Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

Objective:To explore the risk factors of osteosarcopenia in maintenance hemodialysis patients, construct a diagnostic nomogram model and verify the effect.Methods:Usingthe convenient sampling method, a total of 697 patients who underwent regular hemodialysis in six hospitals in Shanghai from July 2020 to April 2021 were selected as the modeling set, and 132 patients who underwent regular hemodialysis in Tongji Hospital in Shanghai in November 2020 were selected as the validation set. General information, laboratory indicators, human parameters, physical functions, nutritional status, physical activity, cognitive function, and depression were collected. Logistic regression was used to analyze the risk factors of osteosarcopenia in maintenance hemodialysis patients and to construct a nomogram model. The effect of the model was evaluated by the area under the receiver operating characteristic curve, calibration curve, and decision curve.Results:A total of 697 maintenance hemodialysis patients were included in the modeling set, including 171 patients with osteosarcopenia, with an incidence rate of 24.53% (171/697). The results of the binomial logistic regression analysis showed that age, body mass index, physical activity intensity, and Charlson Comorbidity Index (CCI) were the influencing factors for the occurrence of osteosarcopenia in maintenance hemodialysis patients ( P<0.05). The area under the receiver operating characteristic curve in the modeling set, ten-fold cross-validation, and validation set were 0.835, 0.827, and 0.851, respectively. The calibration curves of the modeling and validation sets fitted well. The decision curve showed that the clinical utility of the nomogram was good. Conclusions:Maintenance hemodialysis patients are prone to osteosarcopenia. Old age, low body mass index, high Charlson Comorbidity Index, and low-intensity physical activity are risk factors for osteosarcopenia in maintenance hemodialysis patients. A nomogramdiagnostic model based on the above-mentioned influencing factors can help medical staff identify high-risk populations early and develop prevention and treatment measures.

BACKGROUND: There have been many significant advances in the diagnosis and treatment of non-small cell lung cancer (NSCLC). However, the mechanism underlying the progression of NSCLC is still not clear. Plant homodomain finger-like domain-containing protein 5A (PHF5A) plays an important role in processes of chromatin remodeling, morphological development of tissues and organs and maintenance of stem cell pluripotency. This study aims to investigate the role of PHF5A in the proliferation and migration of NSCLC. METHODS: A549 and PC-9 PHF5A overexpression cell lines were constructed. PHF5A expression was decreased in H292 and H1299 cells by using siRNA. Flow cytometry was used to detect the cell cycle. MTT assay and clone formation assay were used to examine the proliferative ability of NSCLC, while migration assay and wound healing assay were performed to evaluate the ability of migration. Western blot analysis was used to measure the expressions of PI3K, p-AKT and the associated downstream factors. RESULTS: Up-regulation of PHF5A in A549 and PC-9 cells increased the proliferation rate, while down-regulation of PHF5A in H292 and H1299 cells inhibited the proliferation rate at 24 h, 48 h and 72 h (P<0.05). The metastatic ability was elevated in the PHF5A-overexpresion groups, while reduced in the PHF5A-down-regulation group (P<0.05). In addition, reduced expression of PHF5A induced cell cycle arrest at G1/S phase (P<0.05). Furthermore, decreased expression of PHF5A reduced the expression levels of PI3K, phosphorylation of AKT, c-Myc (P<0.05) and elevated the expression of p21 (P<0.05). CONCLUSIONS These results demonstrated that PHF5A may play an important role in progression of NSCLC by regulating the PI3K/AKT signaling pathway.
Humans ; Carcinoma, Non-Small-Cell Lung/pathology* ; Lung Neoplasms/pathology* ; Proto-Oncogene Proteins c-akt/metabolism* ; Phosphatidylinositol 3-Kinases/metabolism* ; Cell Line, Tumor ; Cell Proliferation/genetics* ; Cell Movement/genetics* ; Gene Expression Regulation, Neoplastic ; Trans-Activators/genetics* ; RNA-Binding Proteins/metabolism*

Objective:To investigate the association between cardiorespiratory fitness (CRF) and muscle strength, and the influencing factors of CRF in maintenance hemodialysis (MHD) patients.Methods:It was a single-center cross-sectional study. Patients who were treated with regular MHD from September 1, 2020 to December 31, 2020 were recruited. Baseline data of MHD patients including body circumference (upper arm circumference of non-fistula, triceps skinfold thickness, and calf circumference), exercise capacity [6-min walking test (6MWT), timed up and go test (TUGT)] and upper and lower limb muscle strength (grip strength, knee extension strength) as well as clinical and biochemical data, Charlson comorbidity index were collected or measured. Cardiopulmonary exercise test (CPET) was used to test peak oxygen consumption per kg body weight (peakVO 2/kg) for reflecting CRF. Pearson correlation or Spearman correlation was used to analyze the correlation between peakVO 2/kg and clinical parameters. Multiple linear regression analysis (stepwise) was performed to analyze the influencing factors of peakVO 2/kg. Results:A total of 48 patients were enrolled in the study, of whom 34 were males (70.8%). The age was (60.31±10.44) years old. The median dialysis duration was 48(15, 84) months, and the peakVO 2/kg was (12.37±2.71) ml·kg -1·min -1, which was well below the normal value of 30-50 ml·kg -1·min -1. Furthermore, peakVO 2/kg was positively correlated with lower extremity muscle strength ( r=0.322, P=0.026) and 6MWT ( r=0.307, P=0.034), and negatively correlated with age ( r=-0.300, P=0.038). Multiple linear regression analysis demonstrated that lower extremity muscle strength ( β=0.241, P=0.009) and age ( β=-0.235, P=0.022) were the influencing factor of peakVO 2/kg. Conclusions:CRF of MHD patients is significantly decreased. The decrease of lower extremity muscle strength is an influencing factor of CRF reduction.

Objective:To explore the care experience and needs of caregivers of prostatic cancer patients after surgery, in order to provide effective intervention and support, improve quality of care and improve the quality of life of patients and caregivers.Methods:Using the objective sampling method, a total of 12 caregivers of patients who underwent laparoscopic radical prostatectomy and rechecked in the outpatient clinic in Tongji Hospital of Tongji University from November 2020 to January 2021 were selected as the research objects. Data collection was carried out in the form of semi-structured, personal in-depth interviews. Colaizzi seven-step analysis method was used to summarize and analyze the interview content and refine the theme.Results:A total of 5 themes were extracted, namely, lack of disease and care skills, excessive stress, psychological distress, worries about disease prognosis and hope for medical and social support.Conclusions:Postoperative home caregivers of prostatic cancer patients have average care experience and high demands for disease knowledge and nursing skills. While paying attention to patients, medical staff should also care about the physical and mental state of caregivers, provide them with individualized and effective information and medical support and improve the quality of caregivers at home, thereby improving quality of life of patients.

Objective:To search, evaluate and integrate the best evidence of exercise rehabilitation intervention after PCI in patients with acute myocardial infarction, so as to provide evidence-based basis for clinical doctors and nurses to intervene in exercise rehabilitation of patients.Methods:We searched PubMed, China National Knowledge Infrastructure, Wanfang Data and other domestic and foreign databases, guide websites and professional association websites about the evidence of exercise rehabilitation intervention in patients with acute myocardial infarction after PCI. The search period is from January 2010 to June 2021. The quality of the included literature was evaluated by two researchers, and the literature evidence in accordance with the quality standard was extracted.Results:A total of 20 articles were included, and 39 pieces of evidence were summarized from 11 aspects, such as the establishment of multidisciplinary team, evaluation, exercise prescription, exercise monitoring and so on.Conclusions:This study summarized the best evidence of exercise rehabilitation intervention in patients with acute myocardial infarction after PCI, and provided theoretical support for clinical practice. It is suggested to combine the clinical situation and patients' wishes to promote the transformation of the best evidence to clinical practice.

Objective:To evaluate the practicability and effectiveness of nursing plan for elderly patients with urinary incontinence after operation.Methods:The patients admitted to the Department of Urology and Gynecology in a Grade 3A general hospital from September to October 2019 were selected as the control group, and the patients admitted from December 2019 to January 2020 as the intervention group. In the quasi-experimental study, the control group was given routine discharge guidance, and the intervention group was given a nursing plan for elderly patients with urinary incontinence to observe the preliminary effect of the nursing program for a period of 2 months.Results:Two months after implementation, the total scores of discharge preparation, quality of life and satisfaction of urinary incontinence in the intervention group was (125.08 ±17.64), (58.79 ±5.52) and (96.09 ±2.53) respectively, which were significantly different from those in the control group ( P<0.05). Conclusion:The preliminary verification of the scheme has a certain feasibility, has a certain guiding significance for nurses, and is helpful to improve the discharge preparation of elderly surgical patients with urinary incontinence and improve their satisfaction and quality of life when they are discharged.

Objective:To systematically retrieve, evaluate, and summarize the best evidence of self-management in patients with gastroesophageal reflux disease, so as to provide references for clinical nurses to formulate self-management intervention programs for patients with gastroesophageal reflux disease.Methods:Through systematic retrieval of domestic and foreign guides and literature databases, the quality of the included literature was evaluated separately according to requirements of literature quality evaluation. Experts were invited to evaluate the summarized evidence according to the feasibility, appropriateness, meaningfulness, and effectiveness (FAME) structure.Results:A total of 9 articles were included. Finally, the 5 aspects of diet, lifestyle, medication, abdominal breathing training, and follow-up of patients with gastroesophageal reflux disease were summarized, and a total of 21 best recommendations were made.Conclusions:The best evidence for self-management intervention in patients with gastroesophageal reflux disease is rich in content. In clinical work, clinical nurses should apply relevant evidence based on the specific circumstances of the hospital, combined with the promotion and obstacle factors of evidence application.

Objective? To construct the perioperative urinary incontinence nursing outcomes intervention plan suitable for elderly patients with rectal cancer. Methods? From December 2017 to June 2018, we preliminarily developed the perioperative urinary incontinence nursing plan for elderly patients with rectal cancer by literature review and case investigation. We selected 11 experts undertaking rectal cancer and urinary incontinence clinical care, clinical nursing and nursing management by purpose sampling in Shanghai to demonstrate the intervention plan with the method of expert meeting so as to confirm the final intervention plan. Results? The expert authority coefficient was 0.93. The nursing plan included 4 primary indexes, 9 secondary indexes and 42 tertiary indexes. Conclusions? The expert authority coefficient is high in this study. The construction of perioperative urinary incontinence nursing plan based on nursing outcomes classification system for elderly patients with rectal cancer provides the reference for carrying out practice and researches of perioperative urinary incontinence management for elderly patients with rectal cancer.

Objective? To explore the related factors of urinary incontinence among patients with surgery for lumbar disc herniation (LDH). Methods? From 1st June 2017 to 31st May 2018, we selected 336 medical records of LDH patients with surgical therapy at a ClassⅢ Grade A hospital and a ClassⅡGrade A hospital in Shanghai by convenience sampling. Single factor analysis and multiple factors analysis were used to patients' basic data, diagnosis, segments of LDH, symptoms, complications, types of surgery, types of anesthesia, laboratory examination, patient-controlled analgesia and indwelling urinary catheters. Results? A total of 336 medical records of LDH patients were investigated with 29.5% for the incidence of urinary incontinence. Multiple factors analysis showed that the independent risk factors of patients with surgery for LDH included 9 factors involving the childbearing history, complications (diabetes, heart disease, cerebral infarction, lumbar spinal stenosis), symptoms (constipation and urinary tract infection), indwelling urinary catheters and indwelling days (P＜0.05). Conclusions? The incidence of urinary incontinence of patients with surgery for LDH is high and is related to many factors. Medical staff should carry out screening in time and early intervention for high-risk patients according to related factors to reduce the incidence of urinary incontinence.