ObjectiveTo analyse the efficacy and mechanism of Guizhi Fulingwan in regulating sex hormone disorders in rats with benign prostatic hyperplasia （BPH）. MethodsThirty male SD rats were randomly divided into a sham group， a model group， a finasteride group （0.45 mg·kg^-1·d^-1）， and low-dose and high-dose groups of Guizhi Fulingwan （0.135， 0.337 5 g∙kg^-1∙d^-1）， with six in each group. The BPH model was prepared by subcutaneous injection of 3.5 mg∙kg^-1∙d^-1 testosterone propionate after debridement surgery in all groups except the sham group. The rats in the sham group and the model group were administered with an equal volume of saline by gavage， and the rest of the groups were administered with the corresponding medicinal solution by gavage for 35 days. Histopathology in rats was evaluated by prostate wet weight， volume， index， and hematoxylin-eosin （HE） staining. The serum sex hormone levels of testosterone （T）， dihydrotestosterone （DHT）， and estradiol （E₂） were determined by enzyme-linked immunosorbent assay. The protein expression of the androgen receptor （AR） was detected by immunohistochemistry. The serum metabolism profiles of rats in the sham group， the model group， and the high-dose group of Guizhi Fulingwan were compared by ultra-high performance liquid chromatography tandem Fourier transform mass spectrometry （UHPLCQ Exactive） to screen for metabolic markers and to obtain relevant metabolic pathways. ResultsCompared with those in the sham group， the wet weight， volume， index， serum sex hormone level， and AR protein expression of the prostate in the model group were all elevated （P<0.05， P<0.01）， and the histomorphology showed pathological changes. Compared with those in the model group， the wet weight， volume， index， serum sex hormone level， and AR protein expression of the prostate in the intervention groups showed a decreasing trend （P<0.05， P<0.01）， and histopathology was improved. Serum metabolomics analysis obtained a total of 40 metabolic markers related to the intervention effect of Guizhi Fulingwan， such as dehydrosafynol， hyoscyamine， and lumichrome， which were involved in the pathways of autophagy， riboflavin metabolism， and retrograde endocannabinoid signaling. ConclusionGuizhi Fulingwan can effectively regulate sex hormone disorders in BPH rats， and its mechanism may be related to autophagy， riboflavin metabolism， and retrograde endocannabinoid signaling.

OBJECTIVE: To explore the genetic basis for a girl with primary microcephaly and growth retardation. METHODS: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278). RESULTS: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. CONCLUSION Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.
Female ; Humans ; Cell Cycle Proteins ; Heterozygote ; Microcephaly/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree

Septic shock is one of the leading causes of death in children，especially infants，both domestically and internationally.Research has found that patients with septic shock often have abnormal thyroid function，which affects their prognosis.This article reviewed the changes in thyroid hormone and thyroid-stimulating hormone levels，the reasons for these changes，and the mechanisms by which thyroid function affects the immune system in patients with septic shock,aiming to provide new ideas for clinical treatment.

To investigate the therapeutic effect of open reduction and internal fixation (ORIF) on supination external rotation (SER) ankle fractures (AF) and its impact on ankle joint function and range of motion in patients.Methods:The observation group patients were treated with ORIF, while the control group patients were treated with manual reduction combined with plaster external fixation. Both groups of patients were followed up after 3 and 6 months of treatment. Compare the ankle joint function levels of two groups of patients before treatment and after 3 and 6 months of treatment (Kofood score, AOFAS score, Olerud Molander subjective ankle score (OMAS)). Compare the joint range of motion (relative peak force, torque acceleration energy, endurance) between two groups of patients after 3 and 6 months of treatment. Compare the clinical indicators and incidence of adverse events between two groups of patients after 6 months of treatment. T-test was used for comparison between two groups. Multiple group comparisons were conducted using analysis of variance, while pairwise comparisons were conducted using Dunnett-t test. Comparison of count data between groups using χ2 inspections or Fisher exact test. Results:Before treatment, there was no statistically significant difference in the Kofoed score, AOFAS score, and OMAS score between the two groups of patients (all P>0.05). The Kofoed scores of patients in the observation group before treatment and at 3 and 6 months of treatment were (53.78±6.40), (76.73±4.12), and (89.07±5.78) points, respectively. The control group was (52.22±7.08), (71.68±4.82), and (84.05±5.45) points, respectively. The Kofoed scores of patients in both groups were higher than before treatment at 3 and 6 months of treatment (all P<0.05), and the observation group was higher than the control group (all P<0.01).The AOFAS scores of patients in the observation group before treatment and at 3 and 6 months of treatment were (70.13±5.39), (81.62±4.25), and (92.05±4.15) points, respectively. The control group was (69.85±5.41), (79.08±4.60), and (88.92±4.43) points, respectively. The AOFAS scores of patients in both groups were higher than before treatment at 3 and 6 months of treatment (all P<0.05), and the observation group was significantly higher than the control group (all P<0.01).The OMAS scores of the observation group patients before treatment and at 3 and 6 months of treatment were (53.43±5.07), (76.14±4.52), and (85.68±4.14) points, respectively. The control group was (54.42±4.86), (71.39±3.94), and (81.78±4.15) points, respectively. The OMAS scores of the two groups of patients at 3 and 6 months of treatment were higher than before treatment (all P<0.05), and the observation group was higher than the control group (all P<0.01). The fracture healing time (38.85±4.50) days and complete weight-bearing time (66.62±7.14) days of the observation group patients were shorter than those of the control group patients (49.42±5.43) days and (74.39±6.75) days, and the differences between the two groups were statistically significant (t-values were 12.89 and 6.80, respectively, all P<0.01); There was no statistically significant difference in the incidence of adverse events between the two groups of patients (5.41% (4/74) and 9.46% (7/74)), χ2=0.88, P=0.347). Conclusion:ORIF has a good therapeutic effect on SER-AF patients, promotes ankle joint function recovery, and has a low incidence of adverse events, indicating good safety.

Objective:To explore the efficacy of tracheotomy and nasal intubation in airways management in treatment of patients with respiratory failure caused by severe tetanus.Methods:A respective case series study was conducted to analyze the data of 92 patients with respiratory failure caused by severe tetanus admitted to Jiangxi Chest Hospital from January 2012 to December 2019. There were 60 males and 32 females, aged 23-81 years [(47.5±14.1)years]. Overall 43 patients underwent tracheotomy (tracheotomy group), and 49 patients underwent nasal intubation (nasal intubation group). The blood gas related indexes (PaO 2, PaCO 2), catheter retention time, incidence of complications such as airway bleeding, nasosinusitis, catheter blockage and ventilator-associated pneumonia (VAP), and clinical outcome were compared between the two groups. Results:After mechanical ventilation, the PaO 2 and PaCO 2 in both groups were significantly improved ( P<0.01), with no significant difference between groups ( P>0.05). Both groups were similar regarding the catheter indwelling time, catheter blockage, airway bleeding and nasosinusitis ( P>0.05). The incidences of VAP and catheter blockage after extubation in tracheotomy group [12%(5/43), 12%(5/43)] were significantly different from those in nasal intubation group [0%(0/49), 31%(15/49)] ( P<0.05). There were 3 deaths in each group, with the mortality rate of 7% (3/43) in tracheotomy group and of 6% (3/49) in nasal intubation group ( P>0.05). Both groups of live tetanus patients were cured. After 3-month follow-up, the tetanus was cured in the two groups. Conclusions:The tracheotomy and transnasal tracheal intubation are optional for severe tetanus patients with respiratory failure. The former has airway and tissue trauma, but it is convenient for mechanical ventilation management, especially indicated for patients with severe convulsions, angular arch reflexes, poor sedation, and continuous application of muscle relaxants. Nasal intubation is relatively non-invasive, simple and fast method, but the prevention and monitoring of VAP requires higher requirements.

Objective To investigate the cognitive function of patients with prostate cancer after maximal androgen blockade therapy and its influenced factors,and to provide a new way for early prevention strategy.Methods Montreal cognitive assessment (MoCA),hospital anxiety depression scale (HAD),social support rating scale (SSRS) and self-designed questionnaire were used in 56 cases treated with maximum androgen blockade therapy for more than six months and 37 cases who underwent radical prostatectomy treatment to evaluate their cognitive function and collect the observation indexes between January 2013 and October 2015.Based on MoCA score,all patients were divided into cognitive dysfunction group (n =40) and normal cognitive function group (n =53).The observation indexes in two groups were compared and cognitive function with different treatment in two groups were analyzed.The changes on the influencing factors of cognitive function in patients were filtered using multivariable logistic regression analysis.Results In the cognitive dysfunction group and normal group,the proportion of MAB treatment was 80.0％ (32/40) vs.45.3％ (24/53),the age was 73.7 vs.73.7 years,the proportion of solitary was 32.5％ (13/40) vs.13.2％ (7/53),the proportion of depressive symptoms was 87.5％ (35/40) vs.62.3％ (33/53),the social support level was 32.5 vs.41.1 and the proportion of testosterone decreased was 95.0％ (38/40) vs.45.3％ (24/53).All events showed statistically significant differences (P ＜0.05).Compared MAB treatment group with radical surgical treatment group,the testosterone level was (0.27-±O.15) vs.(12.14 ± 1.86) nmol/L,visual space and executive function score was 4.18 ±0.79 vs.4.54 ±0.56,attention score was 4.73 ±0.99 vs.5.16 ±0.79,delayed memory score was 3.75 ± 1.21 vs.4.30 ± 1.05 and MoCA score was 26.13 ± 1.48 vs.27.27 ± 1.39,which all showed the statistically significant difference (P ＜ 0.05).The results of multiple regression analysis showed that age (OR =1.183,95％ CI 1.135-1.223),depressive symptoms (OR =1.092,95％ CI 1.047-1.149),social support (OR =0.897,95％ CI O.838-0.956),testosterone (OR =2.105,95％ CI 1.369-4.083) were the influenced factors of cognitive dysfunction.Conclusions The incidence of cognitive dysfunction in patients with prostate cancer after maximal androgen blockade therapy more than six months was higher than others.Age,depression,social support level and testosterone levels were related to the occurrence of cognitive dysfunction.