Based on the "sweat pore-qi and liquid-collaterals" theory， it is considered that the core pathogenesis of pediatric infectious mononucleosis lies in the obstruction of sweat pores， the failure of qi and liquid to disperse， and damage to the collaterals due to pathogenic toxins. Accordingly， the treatment principles proposed include unblocking the sweat pores， regulating qi and liquid， and smoothing the collaterals. In clinical practice， treatment is differentiated according to stages： initial， acute， and late stages. In the initial stage， invasion of warm pathogenic toxins into the lung defense leads to obstruction of the sweat pores， which should be treated by unblocking the sweat pores and expelling pathogens outward. In the acute stage， the obstruction of the sweat pores worsens， leading to the failure of qi and liquid dispersal， resulting in intense heat toxins with accumulation of dampness， phlegm， and blood stasis， which should be treated by promoting qi movement， resolving dampness and phlegm， clearing heat， detoxifying， and dispersing stasis to regulate qi and liquid. In the late stage， residual pathogens remain， with qi and yin deficiency and unsmooth collaterals， which should be treated by unblocking the collaterals， dissipating nodules， tonifying qi， and nourishing yin to smooth the collaterals. This approach may provide new insights for the clinical treatment of pediatric infectious mononucleosis.

Accurate timing of myelination is crucial for the proper functioning of the central nervous system. Here, we identified a de novo heterozygous mutation in TMEM63A (c.1894G>A; p. Ala632Thr) in a 7-year-old boy exhibiting hypomyelination. A Ca²⁺ influx assay suggested that this is a loss-of-function mutation. To explore how TMEM63A deficiency causes hypomyelination, we generated Tmem63a knockout mice. Genetic deletion of TMEM63A resulted in hypomyelination at postnatal day 14 (P14) arising from impaired differentiation of oligodendrocyte precursor cells (OPCs). Notably, the myelin dysplasia was transient, returning to normal levels by P28. Primary cultures of Tmem63a^-/- OPCs presented delayed differentiation. Lentivirus-based expression of TMEM63A but not TMEM63A_A632T rescued the differentiation of Tmem63a^-/- OPCs in vitro and myelination in Tmem63a^-/- mice. These data thus support the conclusion that the mutation in TMEM63A is the pathogenesis of the hypomyelination in the patient. Our study further demonstrated that TMEM63A-mediated Ca²⁺ influx plays critical roles in the early development of myelin and oligodendrocyte differentiation.
Animals ; Cell Differentiation/physiology* ; Oligodendroglia/metabolism* ; Mice, Knockout ; Mice ; Male ; Myelin Sheath/metabolism* ; Humans ; Child ; Cells, Cultured ; Oligodendrocyte Precursor Cells/metabolism*

OBJECTIVE: To investigate the clinical phenotype and genetic etiology of a patient with tall stature and primary amenorrhea presenting with 47,XYY Disorder of sex development (DSD). METHODS: A female patient presenting with "tall stature and primary amenorrhea" at Nanjing Drum Tower Hospital in July 2024 was selected as the study subject. A retrospective study design was employed to collect the patient's clinical data. Peripheral venous blood sample was collected. Following the extraction of genomic DNA, genetic testing was performed including chromosomal karyotyping analysis, copy number variation sequencing (CNV-seq), multiplex PCR for the AZF regions and sex-determining genes Y (SRY), and whole-exome sequencing (WES). Candidate variants were validated by Sanger sequencing and classified for pathogenicity based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Nanjing Drum Tower Hospital (Ethics No.: 2022-451-01). RESULTS: The patient had a height of 188 cm and a body weight of 50 kg, in addition with infantile uterus, absent ovaries, and primary amenorrhea. G-banded karyotyping analysis of peripheral blood sample revealed 47,XYY. CNV-seq indicated Seq[GRCh37]Yp11.32q12×2. No deletion was detected in the AZF regions of Y chromosome, and SRY was positive. WES identified a heterozygous c.86C>A (p.Thr29Lys) variant of the NR5A1 gene, leading to substitution of threonine with lysine at position 29 of the encoded protein. Sanger sequencing confirmed the presence of the variant. According to the ACMG guidelines, this variant was classified as variant of uncertain significance (VUS) with supporting evidence (PS3_Moderate+PM5+PP3+PM2_Supporting+PS4_Supporting). Reviewing the nearly 60 years of previously reported cases, all 7 documented 47,XYY DSD patients were assigned a female social gender and presented with abnormal gonadal and external genitalia development. Among them, 5 cases underwent SRY testing, all of which were positive. Only 1 case underwent whole-exome sequencing (WES), but no pathogenic or likely pathogenic variants were identified. CONCLUSION This DSD patient presented with the clinical features of tall stature and primary amenorrhea. The NR5A1 gene variant c.86C>A (p.Thr29Lys) probably underlay the Disorder of sex development in this patient. Above finding has enriched the spectrum of pathogenic variants of the NR5A1 gene.
Humans ; Female ; Steroidogenic Factor 1/genetics* ; DNA Copy Number Variations/genetics* ; XYY Karyotype/genetics* ; Karyotyping ; Retrospective Studies ; Phenotype ; Sex Chromosome Disorders of Sex Development/genetics* ; Sex Chromosome Disorders

Objective:The purpose of this study is to explore the clinical characteristics of Coronavirus Disease 2019 (COVID-19) in patients with type 2 diabetes mellitus (T2DM), and analyze the risk factors for adverse outcomes.Methods:2 052 patients diagnosed with COVID-19 who were hospitalized in Shanxi Bethune Hospital between December 1, 2022 and March 20, 2023 were included. They were divided into diabetes group ( n=70) and non-diabetes group ( n=1 982) according to the presence or absence of comorbid T2DM. The two groups were matched at 1:1 via propensity score matching. Clinical characteristics and laboratory examination results of the two groups were compared. According to the outcomes during hospitalization, the two groups were further divided into two subgroups respectively. Univariate analysis and subsequent binary Logistic regression was used to analyze the risk factors of adverse outcomes in patients with COVID-19 and type 2 diabetes. Results:After the propensity score matching, the most common comorbid condition in diabetes group and non-diabetes group was hypertension. The proportion of patients with severe or critical disease in diabetes group was higher compared with non-diabetes group. The levels of hemoglobin A1c (HbA1c), fasting blood glucose (FBG), blood urea, IL-4, IL-6, IL-10, IFN-γ and TNF-α were significantly higher in the diabetes group ( P<0.05). Logistic regression analysis within the diabetes group showed that hypertension ( OR=3.640, 95% CI: 3.156 to 4.290), FBG>11 mmol/L ( OR=3.283, 95% CI: 1.416 to 7.611), HbA1c>10% ( OR=2.718, 95% CI: 1.024 to 7.213) were independent risk factors for adverse outcomes in patients with COVID-19 and type 2 diabetes(all P<0.05). Conclusions:Compared with the non-diabetes group, patients with COVID-19 and T2DM have worse inflammatory response and higher levels of inflammatory cytokines. The elevated levels of FBG and HbA1c are related to the adverse outcome in patients with COVID-19 and T2DM.

Objective To investigate the serum levels of microRNA-146a(miR-146a)and soluble pro-grammed death ligand 2(sPD-L2)in children with Mycoplasma pneumoniae pneumonia(MPP)and to ana-lyze their relationship with disease severity and their predictive value for prognosis.Methods A total of 89 MPP patients diagnosed and treated in Linfen People's Hospital from February 2019 to June 2021 were includ-ed,and they were divided into severe group(50 cases)and mild group(39 cases)based on disease severity.Based on the prognosis of MMP patients,they were categorized into good prognosis group(70 cases)and poor prognosis group(19 cases).Moreover,50 healthy children who underwent physical examination at the same time were setected as the control group.Real-time fluorescence quantitative PCR was performed to assess the serum miR-146a levels in each group,while serum sPD-L2 levels were measured using the enzyme-linked im-munosorbent assay.Pearson correlation analysis was conducted to evaluate the relationship between serum miR-146a and sPD-L2 levels in children with MPP.Logistic regression analysis was performed to identify fac-tors influencing poor prognosis in children with MPP.The predictive efficacy of serum miR-146a and sPD-L2 for predicting the poor prognosis in children with MPP was assessed by receiver operating characteristic curve.Results The serum miR-146a levels decreased sequentially from the control group to the mild group and the severe group(P<0.05),while the sPD-L2 levels increased sequentially(P<0.05).Serum miR-146a was negatively correlated with sPD-L2 levels in children with MPP(r=-0.735,P<0.001).Duration of fe-ver,proportion of pleural effusion,C-reactive protein(CRP)levels,proportion of severe MPP patients and ser-um sPD-L2 levels in the poor prognosis group were higher than those in the good prognosis group,while ser-um miR-146a level was lower than that in the good prognosis group(P<0.05).Severe MMP and serum sPD-L2 were identified as independent risk factors for poor prognosis in children with MPP(P<0.05),whereas miR-146a was found to be a protective factor(P<0.05).The area under the curve of the combination of ser-um miR-146a and sPD-L2 levels in predicting the poor prognosis in children with MPP was 0.915(95%CI:0.861-0.949),which was higher than 0.844 of miR-146a(95%CI:0.801-0.886)and 0.859 of sPD-L2(95%CI:0.814-0.897)alone(Z=4.780,4.023,P<0.05).Conclusion In children with MPP,serum miR-146a level decreases,while sPD-L2 level increases,and the two are associated with the disease severity of MPP.The combination of these two demonstrates high predictive value for the poor prognosis in MPP.

Objective:To investigate and analysis of the occurrence and influencing factors of sarcopenia in elderly critically ill patients in the intensive care unit (ICU).Methods:A prospective cohort study was conducted. Elderly patients (aged ≥ 60 years) admitted to the ICU of Tianjin Medical University General Hospital from November 2023 to June 2024 were enrolled. Clinical records were collected, and conduct muscle mass and strength measurements, as well as upper arm circumference and calf circumference were measured. Appendicular skeletal muscle index (ASMI) of less than 7.0 kg/m 2 for males and less than 5.7 kg/m 2 for females was defined as reduced muscle mass, grip strength of less than 28 kg for males and less than 18 kg for females was defined as decreased muscle strength, patients meeting both low muscle mass and low muscle strength criteria were diagnosed with sarcopenia. According to the diagnostic criteria for sarcopenia, patients were divided into sarcopenia group and non-sarcopenia group. Multivariate Logistic regression analysis was applied to identify risk factors for sarcopenia in the elderly and to develop a predictive model for the occurrence of sarcopenia. The predictive value of various risk factors for sarcopenia in elderly critically ill patients were evaluated by receiver operator characteristic curve (ROC curve). The Kaplan-Meier curve for the length of ICU stay of two groups patients were drawn. Results:Finally, 540 elderly critically ill patients were included, including 43 patients with sarcopenia, and the incidence of sarcopenia was 8.0%. Univariate analysis showed that there were significantly differences in body mass index (BMI), number of hospitalizations in the past year, the length of ICU stay, ventilation mode, duration of mechanical ventilation, pre-admission exercise habits, nutritional support methods, upper arm circumference, calf circumference, and albumin infusion between the sarcopenia group and the non-sarcopenia group. Multivariate Logistic regression analysis showed that BMI [odds ratio ( OR) = 0.79, 95% confidence interval (95% CI) was 0.67-0.93, P = 0.004], calf circumference ( OR = 0.64, 95% CI was 0.54-0.76, P < 0.001), and duration of mechanical ventilation ( OR = 1.06, 95% CI was 1.01-1.12, P = 0.034) were associated with an increased risk of sarcopenia in elderly critically ill patients. The ROC curve results showed that the area under the curve (AUC) and 95% CI of BMI, calf circumference, and duration of mechanical ventilation for predicting sarcopenia in elderly critically ill patients were 0.828 (0.767-0.888), 0.889 (0.844-0.933), and 0.397 (0.299-0.496), respectively, with cut-off values of 22.95 kg/m 2, 28.25 cm, and 50.50 days, respectively. The Kaplan-Meier curve showed that the cumulative survival rate of patients with sarcopenia was significantly lower than that of the non-sarcopenia group (Log-Rank test: χ 2 = 5.619, P = 0.018). Conclusion:Lower BMI, smaller calf circumference, and longer duration of mechanical ventilation are associated with an increased risk of sarcopenia in critically ill elderly patients.

ObjectiveTo investigate the current situation of rehabilitation therapists' work, and analyze the factors related to their career development and transformation. MethodsFrom September, 2022 to January, 2023, 153 rehabilitation therapists in Weifang were investigated with a cross-sectional questionnaire, using general questionnaire, Job Satisfaction Scale for Grassroots Health Technicians, Social Responsibility Scale, Job Role and Identity Inventory, and Employee Turnover Scale. ResultsThe majority of rehabilitation therapists interviewed were male (52.28%), under 35 years old (88.24%), with a bachelor's degree (77.78%), income less than 5 000 yuan a month (46.40%), and less than five years of service (48.36%). The work time was (7.78±0.84) hours a day, (5.39±0.51) days a week. The favorable rate of the physical environment of work was 67.32%, and the favorable rate of the interpersonal relationship environment of work was 80.39%. The score of professional identity was (3.61±0.84), the score of job satisfaction was (3.62±0.97), the score of social responsibility was (3.53±0.79), and the score of turnover was (2.39±1.10). Education level, job satisfaction, and social responsibility were the main factors related to the employee turnover (P < 0.05). ConclusionThe overall educational level of rehabilitation therapists is relatively low, and the human resource structure needs to be optimized. There is a significant difference between academic education and continuing education, and career development needs to be improved. The main factors related to career development and transformation are education level, job satisfaction, and social responsibility.

Objective:To analyze the clinical characteristics of patients with acute glyphosate herbicide poisoning and the differences in the severity of poisoning.Methods:A retrospective analysis was performed on patients with acute glyphosate herbicide poisoning admitted to the First Affiliated Hospital of Zhengzhou University from January 2014 to December 2020. The general information, exposure time, poisoning dose, poisoning cause, poisoning route, clinical manifestations, laboratory examination results during hospitalization, treatment measures, hospital stays and prognosis of the patients were collected. The patients were graded according to the poisoning severity scoring standard of Chinese Expert Consensus on Diagnosis and Treatment of Acute Poisoning in 2016. The highest severity score during hospitalization was used as the final grade. According to the final grade, asymptomatic and mild patients were included in the mild group, and moderate, severe and death patients were included in the severe group. The independent sample T test or Mann-Whitney U test was used for measurement data, and χ2 test or Fisher's exact test was used for counting data. The differences of general data and clinical data between the two groups were compared. Results:According to the inclusion and exclusion criteria, 83 patients with acute glyphosate herbicide poisoning were selected as the study subjects. All patients survived, mainly mild poisoning (56.6%), with a male to female ratio of 33∶50, and an average age of 39 years. The number of poisoning cases increased yearly (the highest in 2019), and most cases occurred in spring and summer. The main cause of poisoning was suicide (71.1%), direct oral administration (83.1%) was the primary route of poisoning, and the dominating clinical manifestations were digestive symptoms (71.1%). Laboratory tests showed increased white blood cell count (WBC), neutrophil percentage (NEUT %) and D-dimer, and decreased hemoglobin and potassium. Compared with the mild group, patients in the severe group were older [(51±17) years vs. (35±19) years], had a higher proportion of suicide and direct oral administration, a longer hospital stay [8.0 (4.8, 12.0) d vs. 3.0 (2.0, 5.5) d], a higher dose of poisoning [200.0 (50.0, 200.0) mL vs. 30.0 (11.3, 57.5) mL], and higher NEUT % within 24 h of admission [(83.4±10.4) vs. (73.2±12.8)]. The increase of WBC, NEUT %, aspartate aminotransferase, prothrombin time, D-dimer and the decrease of serum potassium were more common in the severe group than the mild group, with statistical significance (all P<0.05). Conclusions:The number of patients with acute glyphosate herbicide poisoning is increasing yearly. Generally, the condition is mild and the prognosis is satisfying. The severity is more serious in the middle-aged and elderly patients andthose with direct oral administration, high toxic dose, and high NEUT % within 24 h of admission. Severe poisoning is more likely to cause changes in laboratory indicators.

Objective:To investigate the clinical features of patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis misdiagnosed as mental disorder, improve the early diagnosis rate and reduce misdiagnosis.Methods:The clinical data of patients with anti-NMDA receptor encephalitis diagnosed at the First Affiliated Hospital of Zhengzhou University from 2012 to 2018 were collected. Patients misdiagnosed as mental disorders were screened out. Their psychiatric symptom characteristics, disease course characteristics, imaging and laboratory findings, treatment and prognosis were retrospectively analyzed.Results:A total of 121 cases of anti-NMDA receptor encephalitis were collected, and 43 cases of mental disorders were screened out. Sixteen of the 43 patients (37.2%) had prodromal symptoms, and all the patients had psychiatric behavioral abnormalities (100%), including 32 cases (74.4%) of seizures, 13 cases (30.2%) of decreased level of consciousness, 21 cases (48.8%) of involuntary movements, 15 cases (34.9%) of decreased memory, 8 cases (18.6%) of speech dysfunction, and 8 cases (18.6%) of other neurological symptoms (central hyperventilation, autonomic dysfunction). Memory loss was observed in 15 cases (34.9%), speech dysfunction in 8 cases (18.6%), other neurological symptoms (central hypoventilation, autonomic dysfunction) in 8 cases (18.6%), and various symptoms may appear simultaneously or successively in the same patient. Thirty-eight cases had complete resolution of symptoms or only minor physical impairment, and 5 cases had recurrent admissions with mental abnormalities and seizures. The recurrence rate accounted for 11.6% (5/43).Conclusions:The clinical manifestations of anti-NMDA receptor encephalitis are complex and varied. Most of them have mental behavior abnormalities as the first symptom, which is easily misdiagnosed as mental disorder and delayed treatment will lead to prolonged disease course and poor prognosis.

Objective:To investigate the recovery of patients with acute thallium poisoning after 9 years.Methods:A group of 14 patients with familial thallium poisoning who were admitted to our hospital in 2010 were followed up for 9 years.Results:Among the 14 patients with acute thallium poisoning, one patient died on the 14th day after poisoning, and all the other survivors were followed up 9 years later. The general condition of all the patients was significantly better than that of poisoning 9 years ago. The alopecia of all cases disappeared, the newborn hair grew normally, without gastrointestinal symptoms, numbness, pain in the limbs and mental symptoms. All the patients returned to normal intelligence and physical strength and had a normal life. One patient (No. 5) gave birth to 2 children successively after discharge. The first child was 6 years old and the second child was 2 years old. Both growth and intelligence were not different from those of the same age. Currently, the third pregnancy was more than 7 months. No.6 and No.10 patients were poisoned in their teenage and were currently all studying in university. No.6 patient suffered from Hashimoto's thyroiditis 7 years after poisoning, and he has been taking thiamazole tablets for two years. Poisoned infants, No.7, 8 ,11 and 12, were school-age children with normal growth, mental development and excellent academic performance. Among the 13 surviving patients, blood and urine samples from No. 1, No. 3, and No. 4 patients were collected, and no thallium concentration was detected, and biochemical examina-tion and neurological examination were all normal.Conclusions:Patients with acute thallium poisoning have a favorable prognosis according to the follow-up after 9 years. All patients have no obvious sequelae and have normal labor ability. Young women have normal fertility, and children have normal growth and mental development.