Objective:This study aimed to evaluate the therapeutic effect of intratympanic injection of ganglioside in patients with refractory sudden deafness. Methods:A total of 120 patients with sudden deafness, aged 18-65 years, whose onset was within 11-42 days, failed to respond to conventional treatment, and had an average hearing threshold（500-4 000 Hz）>60 dB were selected. They were prospectively and randomly divided into a control group of 61 cases and an experimental group of 59 cases. The control group was treated according to the recommended protocol of the Chinese Medical Association（postauricular injection of methylprednisolone）, while the experimental group was treated with intratympanic injection of monosialotetrahexosylganglioside sodium+postauricular injection of methylprednisolone. Both groups were simultaneously administered oral ginkgo biloba extract and citicoline tablets. Hearing was re-examined two weeks after the completion of treatment, and the therapeutic effects of the two different treatment methods were compared and analyzed. Results:The effective rate was 29.51% in the control group and 54.24% in the experimental group（P<0.01）. The average hearing threshold improved by 11.57 dB HL in the control group and 22.50 dB HL in the experimental group（P<0.05）. Conclusion:The combination of postauricular injection of methylprednisolone and intratympanic injection of ganglioside is more effective than postauricular injection of methylprednisolone alone in the treatment of refractory sudden deafness. The earlier the treatment, the better the therapeutic effect.
Humans ; Middle Aged ; Hearing Loss, Sudden/drug therapy* ; Adult ; Prospective Studies ; Young Adult ; Aged ; Adolescent ; Male ; Female ; Injection, Intratympanic ; Gangliosides/administration & dosage* ; Methylprednisolone/therapeutic use* ; Treatment Outcome

Objective:To study the clinical characteristics and risk factors of necrotizing enterocolitis (NEC) in one of the premature twins.Methods:A retrospective study was conducted on twin premature infants who were admitted to the Department of Neonatology at the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2022 and only one got NEC. The twins were divided into NEC group and control group, the clinical data were collected and analyzed by SPSS 26.0 statistical software.Results:This study enrolled 109 pairs of premature twins, 109 cases in the NEC group, and 109 cases in the control group. Univariate analysis showed that birth weight, pre NEC white blood cell count were lower in NEC group than those in the control group, while the proportion of smaller than gestational age (SGA), donor of twin-to-twin transfusion syndrome, feeding intolerance, incomplete enteral feeding, start feeding time >48 h, red blood cell transfusion 72 h before NEC onset and the neutrophils ratio were higher in the NEC group than that of the control group, the difference was statistically significant ( P<0.05). Multivariate logistic analysis showed that low birth weight ( OR=1.558, 95% CI1.197-2.142), SGA ( OR=1.721, 95% CI 1.217-2.536), feeding intolerance ( OR=3.798, 95% CI 1.347-10.706), and incomplete enteral feeding ( OR=4.319, 95% CI 1.673-11.149) were independent risk factors for NEC ( P<0.05). Conclusions:Low birth weight, small for gestational age, feeding intolerance, and incomplete enteral feeding are independent risk factors for NEC in one of the premature twins.

Objective:To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A).Methods:A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children′s Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing.Results:The child, a 1-year-old boy, had presented with microcephaly, hairy face and dorsal side of distal extremities and trunk, intellectual and motor development delay, increased muscle tone of lower limbs, hyperreflexes of bilateral knee tendons, and positive pathological signs. His parents and sister both had normal phenotypes. Trio-WGS revealed that the child has harbored a homozygous c. 1250G>A (p.Arg417His) variant of the CYP7B1 gene, for which his mother was heterozygous, the father and sister were of the wild type. The variant was determined to have originated from maternal uniparental disomy (UPD). The result of Sanger sequencing was in keeping with the that of trio-WGS. SPG5A due to maternal UPD of chromosome 8 was unreported previously. Conclusion:The child was diagnosed with SPG5A, a complex type of HSP, for which the homozygous c. 1250G>A variant of the CYP7B1 gene derived from maternal UPD may be accountable.

Abstract The study elaborates on the historical development of the home-school-community partnership in the United States, as well as physical activity strategies to prevent overweight and obesity in school age children. Feasible suggestions are proposed for implementing the home-school-community collaboration in China. The finding suggests that in addition to cooperation with schools, families and communities need to take initiatives to actively support children s participation in various physical activities and provide facilities and guarantees. Schools should also do a top level design that links with families and communities, and incorporate their participation into long term physical education planning, making them an integral part of a closely interconnected collaborative network to further prevent overweight and obesity in school age children.

Schizophrenia is a serious mental disease. The diagnosis of schizophrenia so far relies heavily on subjective evidence, including self-reported experiences by patients, manifestations described by relatives, and abnormal behaviors assessed by psychiatrists. The diagnosis, monitoring of the disease progression and therapy efficacy assessment are challenging due to the lack of established laboratory biomarkers. Based on the current literature, clinical consensus, guidelines, and expert recommendations, this review highlighted evidence-based potential laboratory biomarkers for the diagnosis of schizophrenia, including genetic biomarkers, neurotransmitters, neurodevelopmental-related proteins, and intestinal flora, and discussed the potential future directions for the application of these biomarkers in this field, aiming to provide an objective basis for the use of these biomarkers in the early and accurate diagnosis, treatment, and prognosis and rehabilitation assessment of schizophrenia.

This study reported the diagnosis and treatment of cytochrome P450 oxidoreductase deficiency (PORD) in a male infant. The patient was admitted to Children's Hospital Affiliated to Shandong University at the age of 38 days due to nasal obstruction and feeding difficulties presented at 10 d after birth, as well as less weight gain. Physical examination showed craniosynostoses, hand and foot deformities, and normal external genitalia. Laboratory examination revealed mildly elevated serum adrenocorticotrophic hormone and decreased level of baseline cortisol. A homozygous mutation of c.1370G>A(p.R457H) in POR gene was detected by whole-exome sequencing, which confirmed the diagnosis of PORD. Skeletal deformities complicated by external genital malformations and/or adrenocortical hormone abnormalities are important diagnostic indicators for PORD.

Objective:To investigate the relationship between dietary vitamin A intake and its sources in the first trimester and gestational diabetes mellitus (GDM).Methods:A prospective study was conducted to select women at 6-14 weeks of gestation in an obstetric clinic of a maternal and child health care medical institution in Chengdu in 2017. The types and quantities of food during the first trimester were collected by 3-day 24-hour dietary recalls. Dietary vitamin A intake was calculated based on the Chinese Food Composition Table (2018), and it was divided into animal and plant vitamin A intakes according to its food sources. An oral glucose tolerance test was performed at 24-28 weeks of gestation to diagnose GDM according to the Chinese guidelines for diagnosis and treatment of gestational diabetes mellitus (2014). According to the estimated average requirement (EAR) and recommended nutrient intake (RNI), dietary vitamin A intake was divided into low-level group (RNI). Animal and plant vitamin A intakes were divided into four groups (Q1-Q4) according to the quartile method, respectively. The association between dietary vitamin A intake, its different sources of vitamin A intake and GDM in the first trimester was analyzed by log-binomial regression models.Results:A total of 1 298 valid samples were finally included. The average dietary vitamin A intake, animal and plant vitamin A intakes in the first trimester were 341.1 (227.8-501.0) μgRAE/d, 139.3 (69.6-195.3) μgRAE/d and 184.2 (99.4-301.1) μgRAE/d, respectively. After adjusting for confounding factors, log-binomial regression analysis showed that the risk of GDM in high-level group of dietary vitamin A intake was lower than that in low-level group [ RR (95% CI):0.53 (0.36-0.80)]. Pregnant women in the highest quartile of animal vitamin A intake had a lower risk of GDM than those in the lowest quartile [ RR (95% CI):0.66 (0.47-0.95)]. No relationship between plant vitamin A intake and GDM was found. Conclusion:Dietary vitamin A intake in the first trimester is associated with the occurrence of GDM, and higher intake than RNI may reduce the risk of GDM. Higher vitamin A intake from animal-derived food is associated with decreased risk of GDM.

Objective:To analyze the difference of somatic mutation of DNA mismatch repair (MMR) protein deletion (dMMR) /integrity (pMMR) in colorectal cancer (CRC).Methods:A total of 93 cases of paraffin pathological tissue derived from CRC patients underwent surgical treatment and postoperative routine immunohistochemical diagnosed as dMMR in the Second Affiliated Hospital of Zhejiang University Medical College from January 2015 to January 2017 were collected and conducted the second-generation sequencing test. The expressions of 4 MMR proteins (MLH1, MSH2, MSH6 and PMS2) in CRC tissue were detected by immunohistochemistry method, and the immunohistochemistry results were re-interpreted according to the American Association of Pathologists (CAP) standard. Second-generation sequencing technology was used to detect somatic mutations of 41 genes in 93 cases of paraffin pathological CRC tissue, and Fisher′s exact test was used to analyze the gene mutation differences between groups.Results:After re-evaluation according to CAP standard, 31 cases were divided into pMMR group and 62 cases in dMMR group among the 93 CRC patients. The medium number of gene mutations in the dMMR group was 9.5, higher than 3.0 of the pMMR group ( P<0.001). Somatic mutation differences were found in 17 genes between the dMMR and pMMR groups, including breast cancer susceptibility genes 1 (BRCA1), BRCA2, MLH1, PDGFRA, PIK3CA, APC, ATM, KIT, MET, PMS2, MSH6, POLE, MSH2, PTCH1, epidermal growth factor receptors (EGFR), TP53 and ERBB2 genes. The pathogenic somatic mutation rates of BRAF, MLH1, MSH2 and MSH6 in the dMMR group were higher than those in the pMMR group [21.0% (13/62) vs 9.7% (3/31), 9.7% (6/62) vs 0 (0/31), 21.0% (13/62) vs 0 (0/31), 22.6% (14/62) vs 0 (0/31), P<0.05]. The mutation rate differences of BLM N515fs, BRAF V600E, PTCH1 R1308fs and KRAS G13D sites were statistically different between the dMMR group and the pMMR group [22.6% (14/62) vs 0 (0/31), 19.4% (12/62) vs 3.2% (1/31), 11.3% (7/62) vs 0 (0/31), 16.1% (10/62) vs 3.2% (1/31), P<0.05]. The mutation rates of 3 uncommon sites including BLM N515fs, MSH6 F1088fs and PTCH1 R1308fs were 28.2% (11/39), 15.4% (6/39) and 15.4% (6/39) in patients with dMMR who were missing MLH1 and PMS2 together, statistically different from all of 0 (0/31) in pMMR patients ( P<0.05). Conclusions:CRC Patients with dMMR have more related gene somatic mutations. The BRAF V600E mutation is closely related to dMMR. KRAS G13D, BLM N515fs and PTCH1 R1308fs mutation sites are also associated with the expression of MMR proteins.

Objective:To investigate the relationship between dietary vitamin A intake and its sources in the first trimester and gestational diabetes mellitus (GDM).Methods:A prospective study was conducted to select women at 6-14 weeks of gestation in an obstetric clinic of a maternal and child health care medical institution in Chengdu in 2017. The types and quantities of food during the first trimester were collected by 3-day 24-hour dietary recalls. Dietary vitamin A intake was calculated based on the Chinese Food Composition Table (2018), and it was divided into animal and plant vitamin A intakes according to its food sources. An oral glucose tolerance test was performed at 24-28 weeks of gestation to diagnose GDM according to the Chinese guidelines for diagnosis and treatment of gestational diabetes mellitus (2014). According to the estimated average requirement (EAR) and recommended nutrient intake (RNI), dietary vitamin A intake was divided into low-level group (RNI). Animal and plant vitamin A intakes were divided into four groups (Q1-Q4) according to the quartile method, respectively. The association between dietary vitamin A intake, its different sources of vitamin A intake and GDM in the first trimester was analyzed by log-binomial regression models.Results:A total of 1 298 valid samples were finally included. The average dietary vitamin A intake, animal and plant vitamin A intakes in the first trimester were 341.1 (227.8-501.0) μgRAE/d, 139.3 (69.6-195.3) μgRAE/d and 184.2 (99.4-301.1) μgRAE/d, respectively. After adjusting for confounding factors, log-binomial regression analysis showed that the risk of GDM in high-level group of dietary vitamin A intake was lower than that in low-level group [ RR (95% CI):0.53 (0.36-0.80)]. Pregnant women in the highest quartile of animal vitamin A intake had a lower risk of GDM than those in the lowest quartile [ RR (95% CI):0.66 (0.47-0.95)]. No relationship between plant vitamin A intake and GDM was found. Conclusion:Dietary vitamin A intake in the first trimester is associated with the occurrence of GDM, and higher intake than RNI may reduce the risk of GDM. Higher vitamin A intake from animal-derived food is associated with decreased risk of GDM.

Objective:To analyze the difference of somatic mutation of DNA mismatch repair (MMR) protein deletion (dMMR) /integrity (pMMR) in colorectal cancer (CRC).Methods:A total of 93 cases of paraffin pathological tissue derived from CRC patients underwent surgical treatment and postoperative routine immunohistochemical diagnosed as dMMR in the Second Affiliated Hospital of Zhejiang University Medical College from January 2015 to January 2017 were collected and conducted the second-generation sequencing test. The expressions of 4 MMR proteins (MLH1, MSH2, MSH6 and PMS2) in CRC tissue were detected by immunohistochemistry method, and the immunohistochemistry results were re-interpreted according to the American Association of Pathologists (CAP) standard. Second-generation sequencing technology was used to detect somatic mutations of 41 genes in 93 cases of paraffin pathological CRC tissue, and Fisher′s exact test was used to analyze the gene mutation differences between groups.Results:After re-evaluation according to CAP standard, 31 cases were divided into pMMR group and 62 cases in dMMR group among the 93 CRC patients. The medium number of gene mutations in the dMMR group was 9.5, higher than 3.0 of the pMMR group ( P<0.001). Somatic mutation differences were found in 17 genes between the dMMR and pMMR groups, including breast cancer susceptibility genes 1 (BRCA1), BRCA2, MLH1, PDGFRA, PIK3CA, APC, ATM, KIT, MET, PMS2, MSH6, POLE, MSH2, PTCH1, epidermal growth factor receptors (EGFR), TP53 and ERBB2 genes. The pathogenic somatic mutation rates of BRAF, MLH1, MSH2 and MSH6 in the dMMR group were higher than those in the pMMR group [21.0% (13/62) vs 9.7% (3/31), 9.7% (6/62) vs 0 (0/31), 21.0% (13/62) vs 0 (0/31), 22.6% (14/62) vs 0 (0/31), P<0.05]. The mutation rate differences of BLM N515fs, BRAF V600E, PTCH1 R1308fs and KRAS G13D sites were statistically different between the dMMR group and the pMMR group [22.6% (14/62) vs 0 (0/31), 19.4% (12/62) vs 3.2% (1/31), 11.3% (7/62) vs 0 (0/31), 16.1% (10/62) vs 3.2% (1/31), P<0.05]. The mutation rates of 3 uncommon sites including BLM N515fs, MSH6 F1088fs and PTCH1 R1308fs were 28.2% (11/39), 15.4% (6/39) and 15.4% (6/39) in patients with dMMR who were missing MLH1 and PMS2 together, statistically different from all of 0 (0/31) in pMMR patients ( P<0.05). Conclusions:CRC Patients with dMMR have more related gene somatic mutations. The BRAF V600E mutation is closely related to dMMR. KRAS G13D, BLM N515fs and PTCH1 R1308fs mutation sites are also associated with the expression of MMR proteins.