Objective:To explore the clinical and genetic characteristics of dyskeratosis congenita (DC).Methods:A retrospective analysis was conducted on the clinical, laboratory, imaging, pathological, genetic, and treatment data of 6 DC patients diagnosed at the Children′s Hospital of Zhejiang University School of Medicine from January 2010 to June 2025.Results:Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diagnosis age 0.9-6.1 years. All 6 cases presented with bone marrow failure; 5 cases had a classic triad of skin and mucous membrane (mucosal leukoplakia, abnormal skin pigmentation, nail dystrophy); 5 cases had growth retardation, among which 2 cases had intrauterine growth retardation. Two cases had diarrhea and 1 case had abnormal liver function; 1 case had stiff and deformed limbs, accompanied by limited mobility, and dry and obstructive balanitis; 1 case had recurrent eyelid inflammation, middle ear inflammation, and nasal inflammation. All 6 cases had decreased B cell numbers, and 4 cases also had decreased natural killer cell numbers. There were 3 cases of children with cytomegalovirus (CMV) infection, of which 1 case of CMV infection led to retinal frosted branch angiitis and subsequent intracranial CMV infection resulting in death, and 1 case had CMV enteritis and died of hemophagocytic syndrome. Among 4 cases of boys, 3 cases had DKC1 gene variations and 1 case had an unknown variation gene; 2 cases of girls had TINF2 gene variations. The TINF2 c.860T>A (p.L287Q) variation site was a new mutation. Among 6 patients with DC, 2 cases died, 3 cases survived and 1 case was lost to follow-up.Conclusions:The DKC1 and TINF2 genes are common pathogenic genes in patients with DC. Bone marrow failure is a clue for the early identification of DC. The triad of skin and mucous membrane is its typical clinical manifestation. Children with DC generally have reduced B cells and natural killer killer cells, and have a high risk of fatal CMV infection. The overall prognosis is poor.

Objective To analyze the feasibility of probiotics in delaying the progression of early Alzheimer's disease(AD)based on the changes of brain-gut-microbiota axis factors.Methods A total of 100 patients with early AD who visited Shaoxing 7th People's Hospital from December 2023 to December 2024 were selected and divided into control group(40 cases)and study group(60 cases)based on different treatment methods.The control group was treated with donepezil hydrochloride,while study group was treated with donepezil hydrochloride combined with probiotic preparations.The cognitive function,daily living ability,intestinal flora,and relative expression levels of brain-gut-microbiota axis factors,interleukin(IL)-6,tumor necrosis factor-α(TNF-α),5-hydroxytryptamine(5-HT),γ-aminobutyric acid(GABA),and lipopolysaccharide(LPS)/Toll-like receptor 4(TLR4)/nuclear factor-KB(NF-κB)axis factors were compared before and after treatment in both groups.The clinical efficacy and prognosis monitoring results were also compared.Results The total effective rate and the proportion of patients with a clinical dementia rating score of 0 in study group were higher than those in control group(P＜0.05).The cognitive function and daily living ability scores in study group were higher than those in control group(P＜0.05).The copy numbers of lactobacillus and bifidobacterium in study group were higher than those in control group,while the copy numbers of enterococcus and escherichia coli were lower(P＜0.05).The relative expression levels of amyloid-β protein 1-42,IL-6,TNF-α,TLR4,and NF-κB in study group were lower than those in control group,and the levels of 5-HT and GABA were higher(P＜0.05).Conclusion Probiotics can delay the progression of early AD patients and improve clinical efficacy.It is speculated that the mechanism of action may be related to regulating the brain-gut-microbiota axis-mediated LPS/TLR4/NF-κB pathway to restore the intestinal microecology and alleviate neurological inflammation.

Objective To analyze the feasibility of probiotics in delaying the progression of early Alzheimer's disease(AD)based on the changes of brain-gut-microbiota axis factors.Methods A total of 100 patients with early AD who visited Shaoxing 7th People's Hospital from December 2023 to December 2024 were selected and divided into control group(40 cases)and study group(60 cases)based on different treatment methods.The control group was treated with donepezil hydrochloride,while study group was treated with donepezil hydrochloride combined with probiotic preparations.The cognitive function,daily living ability,intestinal flora,and relative expression levels of brain-gut-microbiota axis factors,interleukin(IL)-6,tumor necrosis factor-α(TNF-α),5-hydroxytryptamine(5-HT),γ-aminobutyric acid(GABA),and lipopolysaccharide(LPS)/Toll-like receptor 4(TLR4)/nuclear factor-KB(NF-κB)axis factors were compared before and after treatment in both groups.The clinical efficacy and prognosis monitoring results were also compared.Results The total effective rate and the proportion of patients with a clinical dementia rating score of 0 in study group were higher than those in control group(P＜0.05).The cognitive function and daily living ability scores in study group were higher than those in control group(P＜0.05).The copy numbers of lactobacillus and bifidobacterium in study group were higher than those in control group,while the copy numbers of enterococcus and escherichia coli were lower(P＜0.05).The relative expression levels of amyloid-β protein 1-42,IL-6,TNF-α,TLR4,and NF-κB in study group were lower than those in control group,and the levels of 5-HT and GABA were higher(P＜0.05).Conclusion Probiotics can delay the progression of early AD patients and improve clinical efficacy.It is speculated that the mechanism of action may be related to regulating the brain-gut-microbiota axis-mediated LPS/TLR4/NF-κB pathway to restore the intestinal microecology and alleviate neurological inflammation.

Objective:To explore the clinical and genetic characteristics of dyskeratosis congenita (DC).Methods:A retrospective analysis was conducted on the clinical, laboratory, imaging, pathological, genetic, and treatment data of 6 DC patients diagnosed at the Children′s Hospital of Zhejiang University School of Medicine from January 2010 to June 2025.Results:Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diagnosis age 0.9-6.1 years. All 6 cases presented with bone marrow failure; 5 cases had a classic triad of skin and mucous membrane (mucosal leukoplakia, abnormal skin pigmentation, nail dystrophy); 5 cases had growth retardation, among which 2 cases had intrauterine growth retardation. Two cases had diarrhea and 1 case had abnormal liver function; 1 case had stiff and deformed limbs, accompanied by limited mobility, and dry and obstructive balanitis; 1 case had recurrent eyelid inflammation, middle ear inflammation, and nasal inflammation. All 6 cases had decreased B cell numbers, and 4 cases also had decreased natural killer cell numbers. There were 3 cases of children with cytomegalovirus (CMV) infection, of which 1 case of CMV infection led to retinal frosted branch angiitis and subsequent intracranial CMV infection resulting in death, and 1 case had CMV enteritis and died of hemophagocytic syndrome. Among 4 cases of boys, 3 cases had DKC1 gene variations and 1 case had an unknown variation gene; 2 cases of girls had TINF2 gene variations. The TINF2 c.860T>A (p.L287Q) variation site was a new mutation. Among 6 patients with DC, 2 cases died, 3 cases survived and 1 case was lost to follow-up.Conclusions:The DKC1 and TINF2 genes are common pathogenic genes in patients with DC. Bone marrow failure is a clue for the early identification of DC. The triad of skin and mucous membrane is its typical clinical manifestation. Children with DC generally have reduced B cells and natural killer killer cells, and have a high risk of fatal CMV infection. The overall prognosis is poor.

Objective To investigate the predictive value of labor progress angle (AOP), fetal head descent distance (HPD) and their change rates in the outcome of vaginal trial of cesarean scar uterus. Methods A total of 170 pregnant women who underwent vaginal trial production of scar uterus after cesarean section were selected as study subjects, and were divided into successful group and failed group based on the trial production outcomes. Advanced oxidation processes (AOP) and head-perineum distance (HPD) were measured by ultrasound during the active phase of the first stage of labor when the cervix dilated to 4 cm and at 1 hour after the cervix dilated to 4 cm, respectively. The AOP change rate and HPD change rate after 1 hour of progress were calculated. The receiver operating characteristic (ROC) curve was used to analyze the predictive efficacy of AOP, HPD and their change rates in the outcome of vaginal trial production of scar uterus after cesarean section. Delong test was used to compare the differences in area under curves (AUCs). Results Among 170 pregnant women with scarred uterus after cesarean section who were pregnant again, 139 cases (success group) were succeed in transvaginal delivery, while 31 cases failed trial delivery, and transferred to cesarean section (failure group). The AOP of the successful group was significantly larger than that of the failed group when the cervix was opened to 4 cm, and the HPD was significantly shorter than that of the failure group (P < 0.05). The AOP change rate and the change rate of HPD of the successful group were significantly higher than that of the failed group when the cervix dilated to 4 cm and at 1 hour (P < 0.05). The AUC of AOP and HPD in predicting the outcome of vaginal trial delivery of scar uterus after cesarean section were 0.846 and 0.812 respectively, and AUC predicted jointly by AOP and HPD showed no significant differences compared with AUC predicted separately (P>0.05). The AUC of the change rate of AOP and HPD in predicting the outcome of vaginal trial delivery of scarred uterus after cesarean section was 0.899 and 0.852 respectively, and the combined prediction of AOP change rate and HPD change rate had a higher AUC value than the AUC predicted separately. Its AUC value was higher than that of AOP combined with HPD (P < 0.05). Conclusion The AOP, HPD and their change rates when the uterine orifice expands to 4 cm in the active phase of the first stage of labor have predictive value for the outcome of vaginal trial production of scarred uterus after cesarean section.

Humans ; Cost-Benefit Analysis ; HIV Infections/drug therapy* ; Cost-Effectiveness Analysis ; Decision Trees

OBJECTIVE: To evaluate the efficacy and safety of hydroxychloroquine (HCQ) in the treatment of patients with moderate coronavirus disease 2019 (COVID-19). METHODS: We prospectively enrolled 30 treatment-naïve patients with confirmed COVID-19 after informed consent at Shanghai Public Health Clinical Center. The patients were randomized 1：1 to HCQ group and the control group. Patients in HCQ group were given HCQ 400 mg per day for 5 days plus conventional treatments, while those in the control group were given conventional treatment only. The primary endpoint was negative conversion rate of SARS-CoV-2 nucleic acid in respiratory pharyngeal swab on days 7 after randomization. This study has been approved by the Ethics Committee of Shanghai Public Health Clinical Center and registered online (NCT04261517). RESULTS: One patient in HCQ group developed to severe during the treatment. On day 7, nucleic acid of throat swabs was negative in 13 (86.7%) cases in the HCQ group and 14 (93.3%) cases in the control group (>0.05). The median duration from hospitalization to virus nucleic acid negative conservation was 4 (1,9) days in HCQ group, which is comparable to that in the control group [2 (1,4) days, Z=1.27, >0.05]. The median time for body temperature normalization in HCQ group was 1 (0,2) day after hospitalization, which was also comparable to that in the control group [1 (0,3) day]. Radiological progression was shown on CT images in 5 cases (33.3%) of the HCQ group and 7 cases (46.7%) of the control group, and all patients showed improvement in follow-up examinations. Four cases (26.7%) of the HCQ group and 3 cases (20%) of the control group had transient diarrhea and abnormal liver function (>0.05). CONCLUSIONS The prognosis of COVID-19 moderate patients is good. Larger sample size study are needed to investigate the effects of HCQ in the treatment of COVID-19. Subsequent research should determine better endpoint and fully consider the feasibility of experiments such as sample size.
Betacoronavirus ; isolation & purification ; China ; Coronavirus Infections ; diagnostic imaging ; drug therapy ; Humans ; Hydroxychloroquine ; therapeutic use ; Pandemics ; Pilot Projects ; Pneumonia, Viral ; diagnostic imaging ; drug therapy ; RNA, Viral ; isolation & purification ; Treatment Outcome

Objective? To translate the attitudes towards vital signs monitoring scale (V-scale) and to test the reliability and validity of it. Methods? We carried out translation, back-translation and culture adaptation to confirm the Chinese version scale. From March to August 2018, we investigated 420 nurses of general wards from three Class Ⅲ Grade A general hospitals in Beijing with the Chinese version of V-scale. The reliability and validity of the scale was evaluated by exploratory factor analysis, confirmatory factor analysis and internal consistency test. Results? The Chinese version of V-scale had 16 items with 0.93 for the content validity. A total of 5 common factors (workload, operation skill, communication, key indicators and knowledge) were extracted by exploratory factor analysis with 65.724% for the total variance contribution. Confirmatory factor analysis showed that the scale was with the good level of fit indices in each item, and adaptation test values all reached the standard level. The Cronbach's α coefficient of the total scale was 0.761 and Cronbach's α coefficients of all dimensions ranged from 0.579 to 0.809. The retest reliability of the scale was 0.778. Conclusions? The Chinese version of V-scale has the good reliability and validity which could be used to assess ward nurses' attitudes towards vital signs monitoring to identify disease progression in China.

Objective To explore the best time window of intake and output volume observation after partial nephrectomy and its predictive value for acute renal injury. Methods The information of totally 134 renal cancer patients with regular subsequent visits after partial nephrectomy in Peking Union Medical College Hospital from December 2014 to December 2015 were collected. The intake and urine volume per hour was recorded. The receiver operating characteristic (ROC) curve was used to explore the best time wind of intake and output volume observation and its predictive value for acute renal injury in patients with partial nephrectomy. Results Acute renal injury was found in 19.4% of the 134 patients. The differences between intake and output volumes 10, 14, 16 and 18 h postoperatively in the acute renal injury group were bigger than those in the non acute renal injury group (P＜0.05). According to the multiple regression analysis, the intake and output volume 10 h postoperatively and the time of warm ischemia were the independent risk factors to postoperative renal injury (P＜0.05). The intake and output volume 10 h postoperatively had predictive power to acute renal injury, whose area under the ROC was 0.747 (95%CI:0.592-0.903, P＜0.05). Conclusions The intake and output volume 10 h postoperatively may be the best time window for observing the intake and output volume in patients with acute renal injury after partial nephrectomy.

Objective To study the correlation between homocysteine levels and MTHFR C677T gene polymorphism of cerebral infarction.Methods Four hundred and fifty patients with cerebral infarction in our hospital were selected as the study group from February 2012 to August 2015,including 181 diabetes patients and 269 non-diabetic patients.Also 285 cases of physical examination healthy people in the outpatient department were selected as the control group.The MTHFR C677T polymorphism and the correlation between genotype and Hcy levels were analyzed by pyrosequencing.Results The difference of distributions of MTHFR genotype between the study group and the control group was statistically significant (P ＜ 0.05).The frequency of the T gene in the study group was significantly higher than the control group,the difference was statistically significant (x2 =13.67,P =0.00).The Hcy concentrations of the study group was significantly higher than the control group,and the difference was statistically significant (t =12.71,P =0.00).The Hcy levels of different MTHFR genotype in the cerebral infarction patients were statistically significant (F =17.68,P =0.00).Hcy levels in non-diabetic patients with cerebral infarction was significantly higher than in diabetic patients with cerebral infarction,and the difference was statistically significant (t =2.97,P =0.00).Hcy concentrations of TT genotype of non-diabetic group was significantly higher than the TT genotype of the diabetic group,CC type Hcy concentration significantly lower than the diabetic group,and the differences were statistically significant (t =5.67,2.18;P =0.00,0.03).In cerebral infarction patients both with non-diabetic and diabetic,the Hcy levels of MTHFR gene TT genotype were significantly higher than those of CC and CT genotype,and the differences were statistically significant (P ＜ 0.05),and the differences of Hcy levels between the genotype of CT and CC was not statistically significant (P ＞ 0.05).Conclusion The T allele frequency of MTHFR C677T in the cerebral infarction patients is much higher than healthy people.MTHFR TT genotype is related to serum Hcy levels.Maybe it is a risk factor for cerebral infarction.