OBJECTIVES: Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population. METHODS: Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis. RESULTS: Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC. CONCLUSIONS Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent ; Adult ; Female ; Humans ; Male ; Case-Control Studies ; China/ethnology* ; Exome Sequencing ; Genetic Predisposition to Disease ; Keratoconus/genetics* ; Mutation ; Mutation, Missense ; Transcription Factors/genetics* ; East Asian People/genetics*

Objective:To describe the characteristics and management of right-sided infective endocarditis (RSIE) during pregnancy.Methods:The clinical manifestation, blood culture, echocardiography, diagnosis, treatment, and maternal and infant outcomes of seven patients with RSIE during pregnancy from Capital Medical University Affiliated Beijing Anzhen Hospital from January 2009 to March 2020 were retrospectively collected and described.Results:The incidence of RSIE during pregnancy was 0.27‰ (7/25 832). All patients had a history of congenital heart disease, with a mean age of (26.0±2.7) years and a mean gestational age at onset of (28.7±6.6) weeks. Cardiac murmur, fever, dyspnea, cough, expectoration, and pulmonary rales were the common symptoms. Seven cases were complicated by anemia, seven with hypoproteinemia, six with hypoxemia, five with pulmonary hypertension, and five with positive blood culture. Echocardiography indicated that vegetations were mainly attached to the pulmonary valves (four cases), followed by the tricuspid valves (three cases) and the right ventricular outflow tract (three cases). Four patients were diagnosed with septic pulmonary embolism by chest X-ray. All patients were treated with intravenous antibiotics. Cesarean section was performed on five cases in the third trimester and one in the second trimester due to intrauterine death. The other case underwent vaginal delivery in the third trimester. Cardiac surgery was conducted during the hospitalization in four cases and not in the other three. The mean length of stay was 26 days (12-76 days). Six cases were cured, and one died after discharge. Among the six neonates, one had asphyxia and was died after withdrawal of treatment. The remaining five infants survived and developed well during the follow-up of 5 years (3-10 years).Conclusions:Pregnancy complicated by RSIE is a rare and critical condition, requiring early diagnosis to make optimal treatment strategies, reducing maternal and infant fatality.

Objective To evaluate the effect of transversus abdominis plane (TAP) block on postoperative cognitive function in elderly patients undergoing laparoscopic surgery under general anesthesia.Methods Forty-eight male patients undergoing laparoscopic tension-free repair of inguinal hernia under general anesthesia,aged 65-75 yr,of American Society of Anesthesiologists physical status Ⅱ or Ⅲ,with body mass index of 20-28 kg/m2,were divided into 2 groups (n =24 each) using a random number table method:TAP block combined with general anesthesia group (group TG) and general anesthesia group (group G).Anesthesia was induced with midazolam,cisatracurium besylate,sufentanil and etomidate,and the patients were mechanically ventilated after laryngeal mask airway insertion.TAP block was performed through the anterior superior iliac spine approach,and 0.25％ ropivacaine 30 ml was injected in group TG.Anesthesia was maintained by target-controlled infusion of propofol and remifentanil and muscle relaxation by intravenously injecting cisatracurium.The occurrence of cerebral regional oxygen saturation (rSO2) and low rSO2 events (rSO2 ＜60％) was recorded at 1 min before anesthesia induction (T0),5 min after inserting the laryngeal mask airway (T1),at skin incision (T2),30 min after skin incision (T3),and at the end of surgery (T4).The consumption of propofol and remifentanil was recorded during surgery.Montreal Cognitive Assessment (MoCA) was used to evaluate the cognitive function of patients at 1 day before surgery and 7 days after surgery,and the development of postoperative cognitive dysfunction (POCD,MoCA scores＜ 26) was recorded.Results Compared with group G,the intraoperative consumption of propofol and remifentanil was significantly reduced,rSO2 was increased at T2~,and the incidence of low rSO2 events was decreased,MoCA scores were increased at 7 days after surgery,and the incidence of POCD was decreased in group TG (P＜0.05).Conclusion TAP block can reduce the incidence of POCD in elderly patients undergoing laparoscopic surgery under general anesthesia.

Objective:To summarize the clinical features of clear cell sarcoma of the kidney (CCSK) in children and to evaluate the effica-cy and safety of the WT-2009 chemotherapy protocol. Methods:Clinical data of children with CCSK recorded between January 2009 and December 2014 were retrospectively analyzed. Follow-ups were conducted to monitor the postoperative conditions of the pa-tients. Results:Nine cases of CCSK were recruited, and another three cases were excluded for the analysis because of incomplete clini-cal data. All patients achieved complete remission when the treatment was finished. The estimated 3-year overall survival rate was 100％, and the estimated 3-year event-free survival rate was 83.3％. No report is available on the significant side effects associated with this treatment. Conclusion:CCSK is rare in children and is easily misdiagnosed. The chemotherapy based on the WT-2009 proto-col can produce a favorable prognosis and a high tolerance for patients with CCSK. However, the treatment for high-risk patient needs to be further explored, and follow-ups must be intensified.

Objective To evaluate the clinical outcome of NB09 (China Pediatric Neuroblastoma cooperative group 09) protocol on children with high-risk and ultra-high risk neuroblastoma. Methods The clinical and follow-up data of pa?tients who suffered from high-risk (n=7) and ultra-high risk (n=31) neuroblastomas and admitted in Tumor hospital of Tian?jin Medical University between January 2009 to January 2013 were retrospectively reviewed (27 boys and 11 girls). The age at diagnosis was 19-160 months (median age was 36.5 months). In the high risk group, patients were evaluated and operated after 4 to 6 circles of neoadjuvant chemotherapy. In ultra-high risk group, patient received chemotherapy before and after op?eration, then autologous stem cell transplantation and tumor bed radiotherapy. After chemotherapy, retinoic acid treatment was given to patients in ultra high risk group as in high risk group. Results At the end of treatment, 25 patients achieved complete remission; 5 patients achieved partial remission; 3 patients were in stable disease;5 patients were deteriorating in their conditions which lead to 2 deaths. In total, the response rate reaches upto 86.8%. By the end of follow up, 15 patients had a disease-free-survival, 9 patients survived with tumor, 7 died from recurrence and 7 died from deteriorating conditions. Survival time ranged from 6 to 52 months (median survival 25.5 months). The 1-, 2- and 3-year overall survival were 91.7%, 64.5%and 57.3%respectively. Kaplan-Meier curve and Log-rank test showed no statistical significance between high risk and ultra-high risk neuroblastomas. Conclusion The outcome of NB09 protocol for high risk and ultra-high risk neuroblastoma was preliminary affirmed. It is worthy of further clinical verification.

Objective To observe the concentration changes of plasma cortisol ( Cor ) and adrenocorticotropic hormone( ACTH) in preterm infants with respiratory failure receiving ventilation treatment. Methods The 30 preterm in-fants with respiratory failure requiring mechanical ventilation were selected as the preterm group with respiratory failure, and 32 full term infants with respiratory failure in need of mechanical ventilation were selected as the term infant group with respiratory failure, and 52 preterm infants( preterm control group) and 17 full term infants( term control group) were selected as controls. All the cases were chosen from Neonatal Intensive Care Unit of Anhui Province Children′s Hospital during January to December 2014. The levels of plasma Cor and ACTH were measured and analyzed. Results (1) Cor level:on the 3rd day, the level of plasma Cor in the preterm group with respiratory failure was lower than that in the term group with respiratory failure[262. 50(162. 00-332. 50) nmol/L vs 531. 00(244. 75-644. 00) nmol/L], and higher than those in the preterm control group[199. 50(49. 05-388. 95) nmol/L] and term control group[120. 00(43. 90-191. 00) nmol/L], the differences were statistically significant(all P<0. 05). On the 7th day, the level of plasma Cor in the preterm group with respiratory failure was lower than that in the term group with respiratory failure[128. 00(65. 85-244. 00) nmol/L vs 222. 00 (131. 50-377. 85) nmol/L], the difference was statistically significant(P<0. 05). (2) ACTH level:on the 3rd day, the level of ACTH in the preterm group with respiratory failure was higher than those in the other groups[38. 20(25. 18-76. 65) pmol/L vs 24. 60(19. 03-38. 20) pmol/L vs 22. 30(14. 40-40. 60) pmol/L vs 24. 20(13. 90-45. 65) pmol/L], the differences were statistically significant(P<0. 05). On the 7th day, the concentration of ACTH in the preterm group with respiratory failure was lower than those in the term group with respiratory failure[16. 55(12. 78-31. 80) pmol/L vs 29. 85(18. 23-54. 65) pmol/L], and there were statistical differences(P<0. 05). Conclusions The newborns with respiratory failure were in criti-cal stress, the level of plasma Cor in the preterm infants with respiratory failure was lower than that of the term infants with respiratory failure, while the level of ACTH in the former was higher than that in the latter. And when the stress disap-peared, both of the plasma Cor and ACTH recovered to the normal level.

Neuroblastoma (NB) is a common malignant solid tumor that occurs during childhood;it has a significant heterogene-ity in clinical symptoms and outcome. NB diagnosis is complicated, and various clinical techniques are often involved in examining im-agery, cellular morphology, immunohistochemical staining, gene and molecule biology, and operation excision scope. Diagnoses are graded based on danger extent, which is indicated by clinical stages and unfavorable prognosis factors. These characteristics are the ba-sis for formulating the corresponding synthetic treatment plan. Limited studies are available on treatment norms for adult cases of NB;such cases are currently diagnosed and treated in accordance with child NB diagnosis and treatment norms. An adult patient diagnosed with NB stage 4 is presented. This patient experienced obvious relief from the symptoms after whole body chemotherapy, with further surgery operation indications. This successful case of multi-disciplinary joint diagnosis and cooperative treatment may provide potential treatment techniques for similar patients.