Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.

Objective:To systematically evaluate the experience and needs of parental care for premature infants during the transition from hospital to home.Methods:Qualitative studies on the experience and needs of parental care for premature infants transitioning from hospital to home were electronically searched in Cochrane Library, PubMed, Embase, Web of Science, Scopus, PsycINFO, CINAHL, China National Knowledge Infrastructure, VIP, China Biomedical Medline Disc, and WanFang Data. The search period was from the establishment of the database to June 3, 2023. The retrieved studies were evaluated using the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center. The qualitative research results were integrated using the method of aggregation integration.Results:A total of 14 articles were included, 39 research results were extracted, categorized into nine categories. These categories were integrated into three synthesized results, namely the dependency period (parents of premature infants coexisted with joy and concern, and relied on professional support from medical and nursing staff), shock period (parents of premature infants developed negative emotions, faced dual difficulties in home care and role switching, and needed internal and external professional support from the family), adaptation period (parents of premature infants actively responded to changes, sought peer support, and transitioned to the "new normal" of life) .Conclusions:The transition from hospital to home is a dynamic process. During the transition process, parents of premature infants undergo complex emotional experiences and role transitions, requiring support from healthcare professionals, family members, and peers. Medical and nursing workers should pay attention to the psychological changes and diverse needs of parents, provide professional support and guidance to help them adapt to the role of parents, and promote the healthy growth of premature infants.

Objective:To evaluate the effect of non-pharmacological interventions on benefit finding of breast cancer patients by using network Meta-analysis.Methods:Randomized controlled trials on the effect of non-pharmacological interventions on the benefit finding of breast cancer patients were retrieved by computer from CNKI, VIP, Wanfang Date, China Biology Medicine disc, PubMed, Web of Science, Cochrane Library, EBSCO, Embase, Medline, Ovid, CINAHL and other databases. The retrieval time was from establishment of the databases to October 15th, 2023. Literature screening and data extraction were carried out independently by two researchers. The Cochrane Manual 5.1.0 randomised Controlled Trial Bias Risk Assessment Scale were used to evaluate the included literature. And the Stata 14.0 were used for Network Meta-analysis.Results:A total of 10 literatures were included. The results of Network Meta-analysis showed that cognitive behavior therapy was the best intervention in improving the benefit finding of breast cancer patients. The effects of different non-pharmacological intervention methods in descending order were cognitive behavior therapy, yoga, acceptance and commitment therapy, self disclosure and muscle stretching.Conclusions:Existing evidence suggests that cognitive behavioral therapy is most effective in improving benefiting finding in breast cancer patients, but more valuable evidence support and high-quality randomized controlled trial studies are needed to further validate.

Objective:To systematically evaluate the rehabilitation effect of Otago exercise in patients with limb dysfunction.Methods:Randomized controlled trials and quasi trials on the rehabilitation effect of Otago exercise in patients with limb dysfunction were searched through computer on PubMed, Cochrane Library, Medline, Embase, Ovid, Scopus, China National Knowledge Infrastructure, VIP, and Wanfang Data. The search period was from the establishment of the database to July 31, 2022. Two researchers independently screened article, evaluated article quality, and extracted data. Meta-analysis was conducted using RevMan 5.3 software.Results:A total of 12 articles were included, including 682 patients with limb dysfunction. Meta-analysis results showed that compared with conventional physical therapy, Otago exercise could improve fall efficacy ( MD=8.64, 95% CI: 7.08-10.20, P<0.01) and balance ability ( MD=2.90, 95% CI: 0.72 -5.08, P<0.01) of patients with limb dysfunction. Conclusions:Otago exercise can improve fall efficiency and balance ability of patients with limb dysfunction, and has a positive impact on patients' limb function rehabilitation.

Objective:To assess the nutritional status of elderly patients with dementia in a memory clinic and to identify patients with malnutrition and patients at risk for malnutrition.Methods:A total of 510 elderly dementia patients were recruited from a memory clinic of the First Affiliated Hospital of Chongqing Medical University.All subjects were assessed with the mini-nutritional assessment short-form(MNA-SF), mini-mental state examination(MMSE), activities of daily living scale(ADL)and neuropsychiatric inventory(NPI). Logistic regression was used to explore potential risk factors and to establish a prediction model.Results:13.33%(68/510)of participants were classified as being malnourished, 52.94%(270/510)as being at risk for malnutrition and 33.73%(172/510)as well nourished.A Logistic regression model for predicting malnutrition identified dysphagia, irritability, physical self-maintenance scale(PSMS), appetite and eating disorders as important influencing factors( OR=4.334, 1.096, 1.121, 1.213, all P<0.05), and MMSE score, family history of dementia and age were important influencing factors for predicting malnutrition/at risk for malnutrition( OR=0.923, 0.517, 1.045, all P<0.05). Conclusions:The incidence of malnutrition and the risk of malnutrition in elderly patients with dementia in the memory clinic are high, and there are many related influencing factors.Early detection and intervention can delay or avoid malnutrition.

OBJECTIVE: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease. METHODS: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis. RESULTS: Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3). CONCLUSION The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Dyneins/genetics* ; Genomics ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Sperm Tail/pathology* ; Whole Exome Sequencing

Objective:To investigate the status of family function and self-care ability in elderly patients with total hip arthroplasty, and analyze the relationship between them.Methods:From March 2018 to March 2019, the convenience sampling method was used. 224 elderly patients undergoing total hip arthroplasty who were hospitalized in the orthopedics department of the Red Cross Hospital of Yulin City, Guangxi were selected as the research objects. The Family Function Assessment Form (APGAR) and the Self-care Capability Scale (ESCA) were used to survey patients ′ family functions and self-care capabilities. Results:The total score of family function of elderly patients with total hip arthroplasty was 8.16 ± 1.98, and those with good family function accounted for 71.88%(161/224); the total score of self-care ability was 84.32 ± 6.54. Those with moderat to low self-care ability accounted for 81.70%(183/224). Patients ′ family function was positively correlated with self-care ability ( P <0.05). Conclusions:The family function of elderly patients undergoing total hip arthroplasty is closely related to their self-care ability. Interventions should be taken to improve the family function of the patients and thus improve their self-care ability.

Objective: To predict the optimal single-batch production and annual production batches for five oral solutions in order to support equipment upgrade and control reasonable cost as well as provide reference for optimizing production management of new preparation room. Methods: The clinical use of the five oral solutions in four consecutive validity periods was retrospectively analyzed. Decision analysis was used to predict the optimal single-batch production and annual production batches for the five oral solutions. The weight coefficient was adjusted according to the clinical characteristics of each preparation. Results: The optimal single-batch produc-tion for the five oral solutions was five to seven times larger than the current scale while the annual production batches were greatly re-duced. In particular, compound ammonium chloride and glycyrrhiza oral solution ( formerly known as brown mixture) were reduced from 95 batches to 13 batches per year. Conclusion: The optimal prediction can provide reference for the appropriate adjustment of production scale of hospital preparations to lower the cost of single packaging production. At the same time, it is also beneficial to the overall management of production equipment selection and future scale design for new preparation room.

Objective To understand the characteristics of nasal prongs or nasal mask for non-invasive positive pressure ventilation in preterm infants with respiratory distress syndrome ( RDS ) .Methods Ninety-three RDS preterm infants from August 2012 to June 2013 were chosen and divided into the nasal prong group (n=48) or nasal mask group (n=45) according to the random number table .The nasal prong group received the short binasal prongs as the connection interface , and the nasal mask group received the nasal mask .The parameters including fraction of inspiration O 2 ( FiO2 ) were adjusted according to transcutaneous oxygen saturation monitoring or blood gas analysis , and the various parameters and incidence rate of adverse reaction were recorded.Results After 12-24 h of non-invasive positive pressure ventilation, the level of pH, PaCO2, FiO2 , abdominal distension , the average time of non-invasive ventilation and the failure cases of non-invasive ventilation were respectively (7.32 ±0.06), (48.2 ±9.0) mmHg, (0.39 ±0.08), 3 cases, (54.1 ± 16.8) h and 12 cases in the nasal prong group, and were (7.31 ±0.07), (47.2 ±10.2) mmHg, (0.38 ± 0.08), 5 cases, (54.8 ±13.6) h and 9 cases in the nasal mask group, and the differences were not statistically significant (t/χ2 =0.169, 0.484, 0.464, 0.217, -0.226, 0.332, respectively;P>0.05).The total numbers of falling off and leaking gas were respectively 89 and 352 in the nasal prong group , and were lower than 48 and 489 in the nasal mask group, and the differences were statistically significant (χ2 =8.898, 44.644, respectively;P<0.05).No difference was found in the incidence rate of nasal injury between two groups (χ2 =0.009,P>0.05).But the sites of nasal injury between two groups were significant different , and the sites of nasal injury in the nasal prong group were almost around the medial aspect of the nasal septum and the columella, and were around the junction of the nasal septum and philtrum and the glabella in the nasal mask group.Conclusions The nasal prongs fall off more easily than nasal masks , and the nasal mask leaks more easily than nasal prongs , but there are no significant differences in the duration and the failure rate of noninvasive ventilation between the two types of connection interfaces .The incidence rate and degree of nasal injury causes by the nasal prongs or nasal mask are similar , but the sites of nasal injury are different .

ObjectiveTo evaluate the predictive value of the sperm quality to fertilization outcomes after short-time insemination.MethodsA total of 558 cycles of short-time insemination in the Reproductive Medical Center of Henan Provincial People's Hospital during January 2009 to June 2010 excluding patients aged ＞ 38 years and M Ⅱ oocyte number ＜ 3 were analyzed retrospectively.According to whether undergo rescue intracytoplasmic sperm injection( Re-ICSI),all cycles were divided into in vitro fertilization (IVF)group (472 cycles) and rescue intracytoplasmic sperm injection (Re-ICSI) group (86 cycles).Both IVFgroup and Re-ICSI group were subdivided into primary infertility and secondary infertility according to previous history of pregnancy.269 primary infertility cycles and 203 secondary infertility cycles were characterized in IVF group; and 64 primary infertility cycles and 22 secondary infertility cycles were characterized in Re-ICSI group.x2 test was applied for comparison of embryo plant rate,clinical pregnancy rate,early miscarriage rate between IVF and Re-ICSI groups,while Fisher test was used for comparison of live birth rate.and Mann-Whitney U test was utilized for comparison of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity between IVF and Re-ICSI groups.ResultsThe embryo plant rate,clinical pregnancy rate,early miscarriage rate,live birth rate of IVF group were:29.4％,44.9％,13.4％,37.0％ respectively; the above indicators in Re-ICSI group were:25.7％,34.6％,10.7％,29.6％ respectively,the differences of the indicators between the two groups had no statisticalsigmficance (x2 =0.869,2.963,0.010,P =0.351,0.085,0.922,0.098).Median of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity of primary infertility cycles in IVF group were:4.00(3.00 -6.00) years,58.37(33.64 - 102.27) × 106,81.09％ (79.41％ -88.69％ ),76.30 (48.50 - 92.46 ) μIU/106 sperm respectively ; in Re-ICSI group were:5.00 ( 3.25 -8.00) years,36.33 (20.59 -64.43 ) × 106,85.5％ (81.28％ - 89.02％ ),47.14( 31.61 -90.24) μIU/106 sperm respectively,the differences of them between the two groups had statistical significance (Z =-2.617, -3.505, -3.553, -3.530,P =0.009,0.000,0.000,0.000).Median of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity of secondary infertility cycles in IVF group were:5.00 (3.00 -7.00) years,63.00 (34.20 - 107.73 ) × 106,81.29％ (79.90 -86.09) ％,78.34 ( 53.87 - 98.00) μIU/106 sperm respectively,in Re-ICSI group were:5.00 ( 3.75 -7.00) years,28.80 ( 18.57 - 48.56 ) × 106,88.79％ ( 84.04 - 95.64 ) ％,54.70 ( 39.73 - 76.77 ) μIU/106 sperm respectively,the differences of them between the two groups showed statistical significance except duration of infertility (Z =- 0.338,- 3.505,- 3.553,- 3.530,P =0.735,0.000,0.000,0.006).ConclusionThe duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity have predictive value of fertilization outcomes after short-time insemination.