OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

Thoracoscopic mitral valve replacement is a common minimally invasive cardiac surgery procedure. However, small annulus, severe calcification of the annulus, and severe thickening of the posterior valve leaflet or sub valvular structure are the difficulties of thoracoscopic mitral valve replacement. Improper treatment can easily lead to left ventricular rupture or prosthesis-patient mismatch. This paper reports a thoracoscopic mitral bioprosthesis replacement case using the chimney technique in Guangdong Provincial People's Hospital and summarizes its operating key points. The patient was a 68-year-old female, weighing 36 kg. The preoperative diagnosis was rheumatic mitral stenosis and atrial fibrillation, the preoperative transthoracic echocardiogram showed the left ventricular end-diastolic diameter was 39 mm. The surgical effect was satisfactory. The patient was in good condition at the follow-up 2 months after the operation.

The elevated polyamines, amine-rich molecules with diverse functions in pathophysiology processes, are implicated in contributing to tumorigenesis and progression. Whether and how they affect the efficacy of chemotherapy is incompletely understood. Our screening assays reveal that the supplement with a low dose of spermidine (Spd), one of the polyamines, enhances ferroptosis in prostate cancer cells as evidenced by increased lipid peroxidation and intracellular Fe²⁺ levels in vitro. Combination treatment with Spd and a low dose of ferroptosis inducer erastin synergistically augments anti-tumor efficacy with undetectable toxicity in mice. Analysis of RNA-seq data indicates that heme oxygenase 1 (HMOX1), an enzyme that catalyzes the cleavage of heme to release Fe²⁺, is significantly upregulated in response to Spd and erastin cotreatment. Spd mediated the hypusine modification of the eukaryotic initiation factor 5A (EIF5A) promotes the translation of the nuclear factor erythroid 2-related factor 2 (NRF2), subsequently leading to elevation of HMOX1. Moreover, Spd and erastin significantly inhibit proteasome activity which results in a decrease in proteasomal degradation of NRF2, although many proteasome-related genes are induced either by Spd or Spd plus erastin. Thus, in addition to its pro-oncogenic activity, the supplement of Spd improves antitumor activity in combination with ferroptosis inducers and offers an optional approach to cancer treatment.

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR). METHODS: A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University on December 6,2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using "hypoparathyroidism""sensorineural deafness""renal dysplasia""HDR""Barakat" and"GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. RESULTS: A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously. CONCLUSION For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.
Humans ; Hypoparathyroidism/diagnosis* ; Female ; Infant, Newborn ; Hearing Loss, Sensorineural/diagnosis* ; GATA3 Transcription Factor/genetics* ; Nephrosis/genetics* ; Phenotype ; Exome Sequencing

Objective To analyze the long-term outcome of modified Morrow surgery (interventricular septal cardiomyectomy) in the treatment of hypertrophic obstructive cardiomyopathy (HOCM) in children. Methods The clinical data of the children with HOCM (aged≤14 years) who underwent modified Morrow surgery from January 2010 to August 2022 in Guangdong Provincial People's Hospital were retrospectively analyzed, including changes in hospitalization status, perioperative period, and long-term 15-lead electrocardiogram and echocardiography. Results A total of 29 patients were collected, including 22 males and 7 females, aged 10.00 (5.00, 12.00) years. Five (17.9%) patients had New York Heart Association (NYHA) heart function grade Ⅲ or Ⅳ. Ventricular septal cardiomyectomy was performed in all patients. All 29 patients survived and their cardiac function recovered after operation. Before discharge, right bundle branch block was observed in 2 patients and left bundle branch block in 6 patients. After surgery, in the left ventricular septal cardiomyectomy, the left atrial diameter decreased (P＜0.001), left ventricular end-systolic diameter increased (P=0.009), the peak pressure gradient of left ventricular outflow tract decreased (P＜0.001), and the thickness of ventricular septum decreased (P＜0.001). The systolic anterior motion of mitral valve disappeared and mitral regurgitent jet area decreased (P＜0.001). The flow velocity and peak pressure gradient of right ventricular outflow tract also decreased in the patients who underwent right ventricular septal cardiomyectomy. The average follow-up of the patients was 69.03±10.60 months. All the patients survived with their NYHA cardiac function grading Ⅰ or Ⅱ. No new-onset arrythmia event was found. Echocardiography indicated that the peak pressure gradient of the left ventricular outflow tract remained low (P<0.001). Moderate mitral regurgitation occurred in 2 patients, and left ventricular outflow tract obstruction with moderate mitral regurgitation occurred in 1 patient after simple right ventricular septal cardiomyectomy. Conclusion Right ventricular or biventricular obstruction is frequent in the children with HOCM and they usually have more symptoms before surgery. Modified Morrow surgery can effectively relieve outflow tract obstruction and improve their cardiac function. The long-term outcome is satisfactory. However, the posterior wall of the left ventricle remains hypertrophic. Also, there is an increased risk of a conduction block.

Objective To explore the impact of SARS-CoV-2-positive donors on the prognosis of heart transplant recipients. Methods The Medline, EMbase, CENTRAL, CNKI, Wanfang Data, VIP and China Biology Medicine from inception to May 2023 were searched by computer for studies about impact of SARS-CoV-2-positive donors on the prognosis of heart transplant recipients. The data were extracted from all the relevant literatures, and the quality of the data was assessed using the Newcastle-Ottawa Scale (NOS). All statistical analyses were conducted by the Stata 11.0 software. Results A total of 10 studies (NOS score ranging from 5 to 9 points) involving 643 patients were enrolled. The pooled results demonstrated that the pooled mortality of heart transplant recipients from SARS-CoV-2-positive donors was 4% (95%CI 2% to 5%). And the incidence of composite outcome, regarding graft failure, rejection and death as poor prognosis, was 7% (95%CI 5% to 9%). Besides, compared with recipients from SARS-CoV-2-negative donors, the pooled odds ratio (OR) value of death of SARS-CoV-2-positive donors was 0.68 (95%CI 0.38 to 1.22, Z=1.28, P=0.200). The pooled OR value of rejection rate was 0.41 (95%CI 0.27 to 0.64, Z=3.97, P<0.005). For the composite outcome, the pooled OR value was 0.50 (95%CI 0.37 to 0.69, Z=4.30, P<0.005). In addition, there was no statistical difference in the length of hospital stay between heart transplant recipients from SARS-CoV-2-positive donors and negative donors (SMD=–0.03, 95%CI –0.22 to 0.15, Z=0.36, P=0.720). Conclusion The application of heart from SARS-CoV-2-positive donor for transplantation is safe and feasible. However, further prospective studies with longer follow-up are still needed to verify its impact on long-term outcomes.

Objective     To evaluate the early clinical outcomes of the Renatus® balloon-expandable valve in the treatment of severe aortic stenosis. Methods    From November 2021 to April 2022, a total of 38 patients who received Renatus® balloon-expandable valve for severe aortic stenosis in Guangdong Provincial People's Hospital were included. There were 22 males and 16 females, with an average age of 73.7±5.3 years. Mean aortic gradient and peak aortic jet velocity at baseline, post-procedure, and follow-up were compared. Clinical outcomes including all-cause mortality, perivalvular leakage, serious adverse cardiovascular events and the occurrence of permanent pacemaker implantation were assessed. Results    All patients completed the procedure successfully without conversion to thoracotomy or perioperative death. The post-implant mean aortic pressure gradient was decreased from 41.5 (27.8, 58.8) mm Hg to 6.0 (3.0, 8.0) mm Hg, and the peak aortic jet velocity was also decreased from 4.1±0.9 m/s to 1.7±0.4 m/s (P<0.001). Pacemakers were required in 2 (5.3%) patients. The median follow-up time was 27.5 (23.0, 87.5) d, with a follow-up rate of 100.0%. The mean aortic gradient was 8.0 (7.0, 10.8) mm Hg and peak aortic jet velocity was 2.0±0.3 m/s, showing significant improvement compared with those in the preoperative period (P<0.001). No severe aortic regurgitation or paravalvular leak was observed. There was no serious cardiovascular adverse event or reoperative event during the study period. Conclusion    Transcatheter aortic valve replacement with the domestic Renatus® balloon-expandable valve system is a safe and effective procedure for selected patients with severe aortic stenosis who are at high risk or not candidates for surgical aortic valve replacement.

Objective:To explore the effect of emergency rescue ability training of operating room nurses based on video tracking method, and provide reference for improving emergency ability of operating room nurses.Methods:This study was a quasi-experimental study. In March 2021, 85 nurses working in the Department of Anesthesiology and Surgery of the Provincial Hospital Affiliated to Shandong First Medical University were selected by cluster sampling method. We implemented a training program of rescue emergency ability based on video tracking and adopted the inspection list of rescue emergency ability assessment and doctors′ satisfaction questionnaire of operating room nurses to evaluate the scores of each item in the nurses' rescue emergency ability list and doctors' satisfaction of rescue cooperation of operating room nurses.Results:The scores of the dimensions of recognition of fatal arrhythmias, fatal arrhythmia, several situations that can directly call help, writing of emergency state nursing records and handover of medical records, use of defibrillator, correct use and maintenance of negative pressure attraction, use and management of rescue vehicle and situation disposal in the inspection list of rescue ability after training were 9.80 ± 1.61, 26.06 ± 2.20, 17.34 ± 1.29, 13.00 ± 1.57, 7.35 ± 0.74, 10.24 ± 1.14, 33.89 ± 2.73, which were higher than before training 9.24 ± 1.18, 24.92 ± 2.15, 15.69 ± 1.92, 12.21 ± 1.66, 6.55 ± 0.92, 8.94 ± 1.32, 32.94 ± 2.20. The differences were statistically significant ( t values were -6.83 to -2.51, all P<0.05); after the training, in the questionnaire of doctors' satisfaction with nurses, surgical materials and instruments preparation, first aid skill operating level, attention to surgical progress, active and correct delivery, orderly and busy, coordination and communication ability, professional knowledge, evaluation ability and foresight, ability to deal with emergencies, clear division of labor and good cooperation, and responsibility scores were 4.22 ± 0.58, 4.52 ± 0.54, 4.53 ± 0.47, 4.43 ± 0.58, 4.44 ± 0.44, 4.37 ± 0. 59, 4.45 ± 0.51, 4.51 ± 0.53, 4.51 ± 0.57, 4.17 ± 0.63, which were higher than the pre-training 4.05 ± 0.58, 4.38 ± 0.56, 4.26 ± 0.76, 4.04 ± 0.67, 4.25 ± 0.62, 4.19 ± 0.74, 4.25 ± 0.74, 4.34 ± 0.67, 4.21 ± 0.84 and 3.56 ± 0.58. All differences were statistically significant ( t values were -8.22 to -2.10, all P<0.05). Conclusions:The training method based on video tracking method improved the emergency rescue ability of operating room nurses and the doctor's satisfaction with rescue cooperation, and provided a reference for the training of operating room nurses.

Objective:To explore the effect of healthcare failure mode and effect analysis (HFMEA) in reducing the incidence of nursing interruption with negative outcome in operating room, so as to maximize the smooth progress of the surgical process.Methods:This was a quasi experimental study. The gastrointestinal surgery room of Shandong Provincial Hospital Affiliated to Shandong First Medical University was selected for the study. According to the surgical sequence, 38 surgeries performed in the gastrointestinal surgery suite from August 15-30, 2021 were set as the control group, and the conventional healthcare cooperation model process was implemented; 42 surgeries performed from September 15-30, 2021 were set as the intervention group, and the operating room under the HFMEA model was implemented negative outcome care disruption event management process.A video tracking method combined with a surgical care disruption event register was used to investigate the occurrence of negative outcome care disruption events in the operating room, comparing the number, duration, source of disruption events and the incidence of near miss events in the operating room between the control group and the intervention group.Results:In the control group, there were 38 observed surgeries, 190 negative outcome care interruptions, negative outcome interruptions of (5.26 ± 1.02) min duration, and no near misses; in the intervention group, there were 42 observed surgeries, 84 negative outcome care interruptions, negative outcome interruptions of (2.06 ± 0.08) min duration, and no near misses. There were statistically significant differences in the number, duration of negative outcome care interruptions between the intervention group and the control group ( χ2 = - 18.71, t = - 20.28; all P<0.01). There was statistically significant difference in the source of negative outcome care interruptions between the intervention group and the control group ( χ2 = - 12.71, P<0.01). Conclusions:HFMEA model can effectively reduce the number of negative nursing interruptions in the operating room, shorten the duration of interruptions, and minimize potential safety hazards caused by nursing interruptions, which is conducive to ensuring the safety of patients.

Objective     To analyze the clinical efficacy and survival outcome of totally thoracoscopic redo mitral valve replacement and evaluate its efficiency and safety. Methods     The clinical data of patients with totally thoracoscopic redo mitral valve replacement in Guangdong Provincial People’s Hospital between 2013 and 2019 were retrospectively analyzed. Survival analysis was performed using the Kaplan-Meier method. Univariate and multivariate Cox regression analyses were used to determine the risk factors for postoperative death. Results     There were 48 patients including 29 females and 19 males with a median age of 53 (44, 66) years. All the procedures were performed successfully with no conversion to median sternotomy. A total of 15, 10 and 23 patients received surgeries under non-beating heart, beating heart and ventricular fibrillation, respectively. The in-hospital mortality rate was 6.25% (3/48), and the incidence of early postoperative complications was 18.75% (9/48). Thirty-five (72.92%) patients had their tracheal intubation removed within 24 hours after the operation. The 1- and 6-year survival rates were 89.50% (95%CI 81.30%-98.70%) and 82.90%(95%CI 71.50%-96.20%), respectively. Age>65 years was an independent risk factor for postoperative death (P=0.04). Conclusion     Totally thoracoscopic redo mitral valve replacement is safe and reliable, with advantages of rapid recovery, reducing blood transfusion rate, reducing postoperative complications and acceptable long-term survival rate. It is worthy of being widely popularized in the clinic.