Asprosin is a protein-like hormone composed of 140 amino acids,which is mainly secreted by adipo-cytes.Polycystic ovary syndrome(PCOS)and asthenospermia are common causes of infertility.Asprosin promotes the production of estradiol in small granular cells induced by follicle stimulating hormone(FSH)and progesterone in small granular cells induced by insulin-like growth factor 1(IGF-1),which functions in the growth of ovarian folli-cles and ovulation of dominant follicles.Asprosin promotes the secretion of sex hormones and the production of nu-trients,increasing the number,survival time and motility of sperms by acting on the hypothalamus and testicles.Asprosin is involved in regulation of follicle growth and spermatogenesis,so this finding may potentially support the development of new strategies for the treatment of infertility.

Objective To verify the diagnostic efficiency and application value of fecal syndecan 2(SDC2)gene methylation detection in intestinal tumor screening.Methods The clinical data of 1 456 patients with fecal SDC2 gene methylation detection in this hospital from November 2021 to December 2023 were ana-lyze retrospectively.The detection positive rate,colonoscopic compliance,sensitivity,specificity,positive pre-dictive rate and negative predictive rate were analyzed.The pathological diagnosis served as the gold standard.The receiver operating characteristic(ROC)curve and the area under the curve(AUC)were used to judge the diagnostic effect.Results In the results in 1 456 cases of fecal SDC2 gene methylation detection,90 cases were positive with a positive rate of 6.2％.The positive rate had no statistical difference between different sexes(P＞0.05).The positive rate in the patients ≥50 years old was higher than that in the patients＜50 year old(P＜0.05).Among 90 cases of detection results positive,67 cases completed the enteroscopic examination and the enteroscopic compliance rate was 74.4％.The enteroscopic compliance rate had no statistical difference be-tween the different sexes and among different ages of patients(P＞0.05).Among 67 cases of enteroscopic ex-amination completion,there were 6 cases(9.0％)of colorectal cancer,17 cases(25.4％)of progressive stage adenoma,15 cases(22.4％)of non-progressive stage adenoma,6 cases(9.0％)of non-adenomatous polyp and the lesion detection rate was 65.7％.Among 112 cases of fecal SDC2 gene methylation detection negative,there were 2 cases(1.8％)of progressive stage adenoma and 22 cases(19.6％)of non-progressive stage ade-noma.The sensitivity and specificity of this detection for colorectal cancer and progressive stage adenoma were 92.0％and 71.4％,respectively,which had obvious diagnostic significance for colorectal tumor(AUC=0.721,P＜0.001).Conclusion The fecal SDC2 gene methylation detection has an important clinical value in the preliminary screening of colorectal cancer.

Objective:To explore the multidisciplinary management that centred on gastroenterology department, and follow-up study of children with Alagille syndrome(ALGS).Methods:The clinical data of 19 children diagnosed with ALGS in Pediatric Gastroenterology Department, Shengjing Hospital of China Medical University since June 2013 to December 2022 was retrospectively analyzed, and the clinical manifestations of various systems of the body were followed up and evaluated, and then developed the personalised management strategies.Results:Among the 19 confirmed patients, 18 cases were confirmed by genetic testing.Eighteen cases(94.7%) had characteristic facial features.To follow-up node, 8 cases(42.1%) had cholestasis, with alanine aminotransferase(210.20±110.50)U/L, aspartate aminotransferase(187.86±96.70)U/L, and direct bilirubin(110.93±108.15)μmol/L.Eighteen cases(94.7%) had pruritus.Eighteen cases(94.7%) of the patients had a high risk of malnutrition, and the level of total bilirubin[(76.17±107.34)μmol/L] and total bile acid[(100.18±83.78)μmol/L] were significantly increased in the children with obvious growth retardation.Thirteen cases(68.42%) had diffuse liver injury.The clinical opinions on genetic counseling, application of new drugs, liver transplantation, cardiac medicine and surgery follow-up, spine and oral surgery orthodontics were given by multiple disciplines.Conclusion:ALGS children have a high risk of long-term malnutrition and are associated with the severity of liver injury, and pruritus and jaundice are the main clinical manifestations.The management of ALGS patients should be centered around liver disease doctors, combined with multiple disciplines, paying attention to changes in various related organs of ALGS patients, and improving their quality of life.

This paper introduces the concepts related to sexual health and sexual health care, summarizes the contents, application scope and limitations of sexual health care assessment tools for oncology nurses at home and abroad, analyzes the problems existing in the assessment tools and puts forward suggestions, aiming at providing theoretical reference for the localization development of sexual health care assessment tools and the development of sexual health care.

Objective:To explore the risk factors for death within 1 year after hip fracture surgery in the elderly.Methods:A case control study was made on the clinical data of 551 elderly patients with hip fracture treated in Second Affiliated Hospital of Soochow University from January 2019 to December 2020, including 182 males and 369 females; aged 65-100 years [80(73,86)years]. Joint replacement, cannulated screw fixation or proximal femoral nail fixation were performed. The patients were divided into survival group ( n=494) and death group ( n=57) based on the death within 1 year after surgery recorded at postoperative telephone follow-up. The gender, age, hypertension, diabetes, cardiovascular diseases, chronic respiratory diseases, neurological diseases, chronic renal failure, anemia on admission, fracture types, American anesthesiologist Association (ASA) classification, operative methods, preoperative waiting time, duration of operation and perioperative blood transfusion were recorded in two groups. Univariate Cox regression was used to analyze the correlation between the above indexes and death within 1 year after surgery. All indexes with P<0.2 in the univariate analysis were included in multivariate Cox regression analysis to clarify the independent risk factors for death within 1 year after surgery. Results:Univariate Cox regression analysis showed that death within 1 year after surgery correlated with gender, age chronic respiratory diseases, chronic renal failure and anemia on admission (all P<0.01), but not with hypertension, diabetes, cardiovascular diseases, neurological diseases, fracture types, ASA classification, operative methods, preoperative waiting time, duration of operation or perioperative blood transfusion (all P>0.05). Multivariate Cox regression analysis showed that male ( HR=2.08, 95% CI 1.20, 3.61, P<0.01), age ≥ 80 years ( HR=2.22, 95% CI 1.15, 4.28, P<0.05), chronic respiratory diseases ( HR=2.54, 95% CI 1.19, 5.40, P<0.05), chronic renal failure ( HR=4.57, 95% CI 1.27, 16.44, P<0.05), anemia on admission ( HR=2.82, 95% CI 1.38, 5.76, P<0.01) were significantly associated with death within 1 year after surgery. Conclusion:Male age≥ 80 years, chronic respiratory disease, chronic renal failure and anemia on admission are independent risk factors for death within 1 year after hip fracture surgery in the elderly.

Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of the CACNA1A gene. EA2 has been rarely reported in the Chinese population. Here we present an EA2 family admitted to Xiangya Hospital in October 2018. The proband was a 22-year-old male who complained of recurrent spells of vertigo, slurred speech, and incoordination for 4 years. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy. He had neuropsychological development disorder in childhood, and cognitive assessment in adulthood showed cognitive impairment. The proband's mother and grandmother had a similar history. Peripheral blood samples from the proband and family members were collected, and genomic DNA was isolated. Whole exome sequencing of the proband detected a heterozygous frameshift mutation c.2042_2043del (p.Q681Rfs*100) of CACNA1A gene. This mutation was verified in the proband and 2 family members using Sanger sequencing. One family member carrying this mutation was free of symptoms and signs, suggesting an incomplete penetrance of the mutation. We reported a variant c.2042_2043del of CACNA1A gene as the pathogenic mutation in a Chinese EA2 family for the first time. This case enriched the clinical spectrum of CACNA1A related EA2, and contributed to the understanding of clinical and genetic characteristics of EA2 to reduce misdiagnosis.
Adult ; Ataxia ; Calcium Channels/genetics* ; Humans ; Male ; Mutation ; Nystagmus, Pathologic ; Pedigree ; Vertigo ; Young Adult

OBJECTIVES: Idiopathic intracranial hypertension (IIH) is a syndrome that excludes secondary causes such as intracranial space-occupying lesion, hydrocephalus, cerebrovascular disease, and hypoxic ischemic encephalopathy. If not be treated promptly and effectively, IIH can cause severe, permanent vision disability and intractable, disabling headache. This study aims to explore the clinical and image features for IIH, to help clinicians to understand this disease, increase the diagnose rate, and improve the outcomes of patients. METHODS: We retrospectively analyzed 15 cases of IIH that were admitted to Xiangya Hospital, Central South University, during January 2015 to September 2020. The diagnosis of IIH was based on the updated modified Dandy criteria. We analyzed clinical data of patients and did statistical analysis, including age, gender, height, weight, medical history, physical examination, auxiliary examination, treatment and outcome. RESULTS: There were 10 females and 5 males. Female patients were 22 to 42 years old with median age of 39.5. Male patients were 27 to 52 years old with the median age of 44.0. The BMI was 24.14-34.17 (28.71±2.97) kg/m CONCLUSIONS IIH primarily affects women of childbearing age who are overweight. The major hazard of IIH is the severe and permanent visual loss. Typical image signs have high specificity in IIH diagnosis. Prompt diagnosis and effective treatment are significantly important to improve the outcomes of patients.
Adult ; Anemia, Iron-Deficiency ; Female ; Humans ; Intracranial Hypertension ; Male ; Middle Aged ; Pseudotumor Cerebri/diagnostic imaging* ; Retrospective Studies ; Ventriculoperitoneal Shunt ; Young Adult

Objective:To investigate the effect of Lee Silverman voice therapy (LSVT) on the speech and life quality of Chinese persons with Parkinson′s disease (PD).Methods:A total of 16 Chinese PD patients were enrolled and given standard LSVT for 4 weeks. Their acoustic data were analyzed using PRAAT software before and after the treatment. Their voice quality was evaluated using the Japanese GRBAS voice scale and their quality of life was quantified using the Voice Handicap Index (VHI) scale.Results:After 4 weeks of LSVT the patients′ average voice and life quality had improved significantly. The average maximum duration of sustained vowel phonation had increased significantly, as had the vowels′ mean loudness, reading and monologue delivery. The GRBAS grading indicated that hoarseness had decreased significantly. The average total voice handicap index had also decreased significantly.Conclusion:Lee Silverman therapy can significantly improve maximum phonation time and loudness of Chinese-speakers, which enhances sensory feedback. The quality of their speech and of their life also improve significantly. This technique is recommended for clinical application.

Objective:To investigate the technical points and clinical application of combined infratemporal fossa approaches (CIFA) by analyzing the clinical results with CIFA for lesions involved skull base.Methods:A retrospective study was performed on 11 patients underwent CIFA for skull base lesions dissection from December 2014 to January 2019 in the department of otolaryngology, Peking Union Medical College Hospital. There were 6 male and 5 female patients, with age range of 16-72 years old and median age of 53 years old. Five patients underwent CIFA Type B and D, and the other 6 underwent CIFA A and B. All patients were followed up regularly by CT and MRI to observe possible recurrence.Results:Among the 5 patients with CIFA Type B and D, 3 were giant cell tumor and 2 were giant cell reparative granuloma, and median maximum cross-section size was 42 mm×46 mm (range from 37 mm×18 mm to 56 mm×53 mm). Among the 6 patients with CIFA Type A and B, 4 were paraganglioma of head and neck, 1 was schwannoma of skull base, 1 was petrous cholesteatoma, and median maximum cross-section size was 43 mm×36 mm (range from 24 mm×22 mm to 63 mm×35 mm). Nine patients underwent complete resection of the tumor in the first stage. In 2 patients, the extracranial parts were removed in the first stage, and the intracranial part was removed in the second stage. Tympanum and ossicular reconstruction were done in one of the CIFA Type B and group D, and 1 year′s postoperative hearing was mild conductive hearing loss. There was no cerebrospinal fluid leakage of all patients. All the 5 patients with normal facial nerve function before surgery recovered to H-B grade Ⅰ to Ⅱ within 3 months after surgery. Among the 4 patients whose preoperative facial nerve function were grade Ⅱ, 2 recovered to grade I after surgery and the other 2 were still grade Ⅱ. For the patient whose preoperative facial nerve function was grade Ⅴ, his postoperative recovery was grade Ⅲ. There was 1 patient whose pre-operative FN function was H-B grade Ⅲ, and the post-operative FN function was grade Ⅵ due to FN resection. Except for 2 cases with cochlear involved before surgery, cochleae of the other 9 cases were preserved. The follow-up time was 14 to 58 months. No recurrence was observed in all patients.Conclusions:The CIFA can safely and completely remove the extensive lesions that invade the skull base, and the facial nerve function can be well protected and recovered intro-and post-operation. Appropriate use of combined IFA can not only achieve good exposure and complete resection of lesions, but also create conditions for functional reconstruction.

Objective To explore and analyze the clinical effect of enhanced recovery after surgery to tibial plateau fractures patients applied arthroscopic minimally invasive treatment. Methods A total of 60 tibial plateau fractures patients were selected in our orthopedics department from January 2016 to July 2017 and who applied arthroscopic minimally invasive treatment, according to the last two-digit number of patient ID, divided them into observation group (n=30) and control group (n=30) randomly. The control group used regular perioperative strategies. The observation group used multidisciplinary cooperation fast track surgery idea, through preoperative assessment and education, nutrition and fasting, advance pre-rehabilitation and preventive analgesia; intraoperative optimization of anesthesia, body fluid management and body temperature control; postoperative nutritional support, multimodal analgesia, early ambulation and rehabilitation exercises, implied standardized and professional perioperative overall optimization management. The differences of the condition of 6 h, 12 h, 24 h after surgery, VAS score on discharge, time of first ambulation, active knee flexion 120°days; self-care ability at discharge and AKSS score one month after surgery between 2 groups were compared. Results The VAS scores 6 h, 12 h, 24 h after surgery and at discharge were 4.48 ± 1.18, 3.81 ± 1.68, 3.05 ± 1.63, 2.65 ± 1.65 in the observation group, and were 5.45±1.15, 4.15±1.05, 3.71±1.15, 3.23±1.68 in the control group. The differences were statistically significant (t=0.796~0.902 , P<0.05). The time of first ambulation, active knee flexion 120° days, self-care ability at discharge and AKSS scores one month after surgery were (5.61±1.4) hours, (4.01± 1.1) days, 80.22±3.6, 71.89±6.56 and 64.13±6.15 in the observation group, and (35.8±8.1) hours, (6.82± 1.6) days, 64.25±3.8, 63.45±8.36 and 60.95±8.98 in the control group. The differences were statistically significant (t=2.789~10.200, P<0.05). Conclusion Enhanced recovery after surgery to tibial plateau fractures patients applied arthroscopic minimally invasive treatment is worthy of being popularized as it’s beneficial to tibial plateau fractures patients. It can also fasten recovery and improve quality of life for postoperative patients.