OBJECTIVE: To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province. METHODS: A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67). RESULTS: Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. CONCLUSION The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans ; Amino Acid Metabolism, Inborn Errors/epidemiology* ; Glutaryl-CoA Dehydrogenase/chemistry* ; Infant, Newborn ; Female ; Neonatal Screening/methods* ; Male ; Brain Diseases, Metabolic/epidemiology* ; China/epidemiology* ; Retrospective Studies ; Mutation ; Genetic Variation ; Glutarates

Objective:To explore the short-term oncological efficacy of the total prostatic urethra preservation（TPUP）technique in laparoscopic radical prostatectomy and its impact on postoperative urinary continence rate.Methods:The clinical data of 17 prostate cancer patients admitted to Shaoxing People’s Hospital from July 2023 to July 2024 were retrospectively analyzed. The age was（70.5 ± 6.5）years，the body mass index was（23.6 ± 2.5）kg/m 2，and the prostate-specific antigen（PSA）level was（7.845 ± 3.929）ng/ml. The preoperative biopsy pathological Gleason score were 6 in 8 cases，and 7 in 9 cases. All patients underwent laparoscopic radical prostatectomy，and the TPUP technique was used during the operation. The integrity of the preserved urethra was improved by preserving the prostatic surgical capsule closely attached to the corpus spongiosum of the urethra. During the operation，the urethra was completely preserved in 2 cases，nearly completely preserved in 14 cases，and partially preserved in 1 case. The recovery of urinary continence on the day of catheter removal and at 1 and 3 months after the operation was recorded. Recovery of urinary continence was defined as pad within 24 hours. PSA was re - examined at 6 weeks and 3 months after the operation. Results:All 17 operations in this study were successfully completed. The operation time was（143.6 ± 31.6）minutes，and the intraoperative blood loss was 50.0（20.0，50.0）ml. None of the cases was converted to open surgery，and no Clavien - Dindo grade ≥ 2 complications such as blood transfusion or intestinal injury occurred during the peri-operative period. The PSA levels at 6 weeks and 3 months after the operation were 0.054（0.008，0.215）ng/ml and 0.008（0.005，0.037）ng/ml，respectively. The indwelling catheter time after the operation was（13.4 ± 2.1）days. The number of cases with recovered urinary continence on the day of catheter removal and at 1 and 3 months after the operation was 10，15，and 17，respectively.Conclusions:The TPUP technique in laparoscopic radical prostatectomy leads to good recovery of postoperative urinary continence，and there is a slowly PSA decrease in the short term.

Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

ObjectiveRepetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, offers a non-pharmacological therapeutic option for the management of Alzheimer’s disease (AD). Studies have demonstrated that ferroptosis plays a pivotal role in the pathological onset and progression of AD, and the inhibition of neuronal ferroptosis can significantly ameliorate cognitive impairments associated with AD. The imbalance of calcium ion (Ca²⁺) homeostasis is intimately associated with the pathology of AD and serves as a catalyst for the induction of ferroptosis through various pathways. This study is designed to investigate whether rTMS can ameliorate AD by inhibiting neuronal ferroptosis or maintaining calcium homeostasis, ultimately establishing a theoretical and experimental framework for the utilization of rTMS in AD treatment. MethodsAPP/PS1 AD mice were subjected to both 0.5 Hz low-frequency and 20 Hz high-frequency rTMS treatments, and the efficacy of these treatments was evaluated using novel object recognition and Morris water maze tests. ELISA was employed to quantify the levels of glutathione (GSH), malondialdehyde (MDA), superoxide dismutase (SOD), Fe²⁺ within the hippocampi of mice from each group. HT-22 cells were induced to undergo ferroptosis via Erastin treatment, and subsequent to high- and low-frequency magnetic stimulation, cell viability was assessed using CCK-8 assay, while intracellular calcium ion concentration fluctuations were monitored using Fluo-4 AM. ResultsThe findings revealed that, when compared to normal mice, AD mice displayed a notable decline in cognitive function, accompanied by a substantial increase in ferroptosis levels and intracellular calcium ion concentrations. Both high-frequency and low-frequency applications of rTMS were found to significantly ameliorate cognitive impairments in AD mice, while also effectively mitigating the abnormal augmentation of neuronal ferroptosis and intracellular calcium ion levels. ConclusionThe present study underscores that both high-frequency and low-frequency rTMS exhibit efficacy in alleviating cognitive dysfunction in AD mice, potentially through the modulation of ferroptosis and intracellular calcium ion homeostasis.

OBJECTIVE: To assess the independent and combined effects of air pollutants, meteorological factors, and greenspace exposure on new tuberculosis (TB) cases. METHODS: TB case data from Shanghai (2013-2018) were obtained from the Shanghai Center for Disease Control and Prevention. Environmental data on air pollutants, meteorological variables, and greenspace exposure were obtained from the National Tibetan Plateau Data Center. We employed a distributed-lag nonlinear model to assess the effects of these environmental factors on TB cases. RESULTS: Increased TB risk was linked to PM _2.5, PM ₁₀, and rainfall, whereas NO ₂, SO ₂, and air pressure were associated with a reduced risk. Specifically, the strongest cumulative effects occurred at various lags: PM _2.5 ( RR = 1.166, 95% CI: 1.026-1.325) at 0-19 weeks; PM ₁₀ ( RR = 1.167, 95% CI: 1.028-1.324) at 0-18 weeks; NO ₂ ( RR = 0.968, 95% CI: 0.938-0.999) at 0-1 weeks; SO ₂ ( RR = 0.945, 95% CI: 0.894-0.999) at 0-2 weeks; air pressure ( RR = 0.604, 95% CI: 0.447-0.816) at 0-8 weeks; and rainfall ( RR = 1.404, 95% CI: 1.076-1.833) at 0-22 weeks. Green space exposure did not significantly impact TB cases. Additionally, low temperatures amplified the effect of PM _2.5 on TB. CONCLUSION Exposure to PM _2.5, PM ₁₀, and rainfall increased the risk of TB, highlighting the need to address air pollutants for the prevention of TB in Shanghai.
China/epidemiology* ; Humans ; Air Pollutants/analysis* ; Tuberculosis/epidemiology* ; Incidence ; Meteorological Concepts ; Particulate Matter/adverse effects* ; Environmental Exposure ; Male ; Female ; Adult ; Air Pollution ; Middle Aged

PURPOSE: Deep vein thrombosis (DVT) of the left and right lower extremities was treated in the same way, but the left and right extremities received different levels of attention. This study aimed to investigate the differences between the right and left lower extremity deep vein thrombosis (LEDVT). METHODS: Clinical characteristics of LEDVT patients from July 2020 to June 2022 were retrospectively analyzed to compare the incidence of LEDVT on different limbs, demographics, predisposing factors, and anatomical characteristics. The exclusion criteria were bilateral LEDVT and recurrent thrombosis. Measured data was analyzed using independent samples t-test or Mann-Whitney test. Count data were analyzed by Chi-square test. A p < 0.05 was considered a statistically significant difference. RESULTS: There were 478 patients included in this study and the ratio of left to right LEDVT on the left and right limbs was 3.16:1 (363:115). Left LEDVT predominantly affected female, with the major aged > 50 years (50 - 60 years: 16.80%; > 60 years: 57.30%). The primary predisposing factor was iliac vein compression syndrome, with iliofemoral thrombosis being the main type. Male patients with LEDVT on the right limb were predominant and the age of onset was usually ≤ 60 years (52.17%). The main predisposing factor was recent surgery or trauma (< 30 days) and femoropopliteal thrombosis was the main type. In more detail, the left iliac vein was compressed mainly in the proximal segment, and the right iliac vein was compressed mainly in the intermediate and distal segments. Recent surgery or trauma to the locomotor system and genitourinary system often induced LEDVT. CONCLUSION The incidence of LEDVT on the left is significantly higher than that on the right. LEDVT on different sides has different characteristics, which is crucial for prevention and diagnosis in the relevant population so there are also differences in treatment of the affected limbs.
Humans ; Venous Thrombosis/etiology* ; Male ; Female ; Middle Aged ; Lower Extremity/blood supply* ; Retrospective Studies ; Adult ; Aged ; Age Factors ; Sex Factors ; Risk Factors ; Acute Disease ; Incidence ; Aged, 80 and over ; Young Adult ; Adolescent

Objective:To systematically synthesize qualitative studies on healthcare professionals' experiences and needs regarding telemedicine services for diabetic foot ulcers (DFU), and to provide scientific evidence for further improvement of DFU telemedicine service systems.Methods:PubMed, Web of Science, Cochrane Library, CINAHL, Scopus, Embase, ProQuest, PsycINFO, China National Knowledge Infrastructure, Wanfang Data, VIP, and China Biology Medicine disc were searched for qualitative studies on healthcare professionals' experiences and needs in the process of constructing and using DFU telemedicine service platforms. The time limit was from the inception of the databases to December 2024. The included literature was appraised according to the 2016 Joanna Briggs Institute (JBI) critical appraisal checklist for qualitative research, and the results were integrated and summarized using meta-aggregation.Results:A total of 10 studies were included, from which 30 findings were extracted, forming 11 categories, and were synthesized into four integrated findings: healthcare professionals held divergent attitudes toward DFU telemedicine services, perceived multiple benefits, faced many challenges, and had multidimensional needs.Conclusions:Telemedicine services have provided healthcare professionals with great convenience in managing DFU patients, but challenges still exist. In the future, relevant platforms and systems should be continuously improved by integrating the needs of healthcare professionals and patients, while service processes and management mechanisms should be enhanced to improve the quality of telemedicine services.

Objective:To systematically synthesize qualitative studies on healthcare professionals' experiences and needs regarding telemedicine services for diabetic foot ulcers (DFU), and to provide scientific evidence for further improvement of DFU telemedicine service systems.Methods:PubMed, Web of Science, Cochrane Library, CINAHL, Scopus, Embase, ProQuest, PsycINFO, China National Knowledge Infrastructure, Wanfang Data, VIP, and China Biology Medicine disc were searched for qualitative studies on healthcare professionals' experiences and needs in the process of constructing and using DFU telemedicine service platforms. The time limit was from the inception of the databases to December 2024. The included literature was appraised according to the 2016 Joanna Briggs Institute (JBI) critical appraisal checklist for qualitative research, and the results were integrated and summarized using meta-aggregation.Results:A total of 10 studies were included, from which 30 findings were extracted, forming 11 categories, and were synthesized into four integrated findings: healthcare professionals held divergent attitudes toward DFU telemedicine services, perceived multiple benefits, faced many challenges, and had multidimensional needs.Conclusions:Telemedicine services have provided healthcare professionals with great convenience in managing DFU patients, but challenges still exist. In the future, relevant platforms and systems should be continuously improved by integrating the needs of healthcare professionals and patients, while service processes and management mechanisms should be enhanced to improve the quality of telemedicine services.

Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

Objective:To explore the short-term oncological efficacy of the total prostatic urethra preservation（TPUP）technique in laparoscopic radical prostatectomy and its impact on postoperative urinary continence rate.Methods:The clinical data of 17 prostate cancer patients admitted to Shaoxing People’s Hospital from July 2023 to July 2024 were retrospectively analyzed. The age was（70.5 ± 6.5）years，the body mass index was（23.6 ± 2.5）kg/m 2，and the prostate-specific antigen（PSA）level was（7.845 ± 3.929）ng/ml. The preoperative biopsy pathological Gleason score were 6 in 8 cases，and 7 in 9 cases. All patients underwent laparoscopic radical prostatectomy，and the TPUP technique was used during the operation. The integrity of the preserved urethra was improved by preserving the prostatic surgical capsule closely attached to the corpus spongiosum of the urethra. During the operation，the urethra was completely preserved in 2 cases，nearly completely preserved in 14 cases，and partially preserved in 1 case. The recovery of urinary continence on the day of catheter removal and at 1 and 3 months after the operation was recorded. Recovery of urinary continence was defined as pad within 24 hours. PSA was re - examined at 6 weeks and 3 months after the operation. Results:All 17 operations in this study were successfully completed. The operation time was（143.6 ± 31.6）minutes，and the intraoperative blood loss was 50.0（20.0，50.0）ml. None of the cases was converted to open surgery，and no Clavien - Dindo grade ≥ 2 complications such as blood transfusion or intestinal injury occurred during the peri-operative period. The PSA levels at 6 weeks and 3 months after the operation were 0.054（0.008，0.215）ng/ml and 0.008（0.005，0.037）ng/ml，respectively. The indwelling catheter time after the operation was（13.4 ± 2.1）days. The number of cases with recovered urinary continence on the day of catheter removal and at 1 and 3 months after the operation was 10，15，and 17，respectively.Conclusions:The TPUP technique in laparoscopic radical prostatectomy leads to good recovery of postoperative urinary continence，and there is a slowly PSA decrease in the short term.