Glycogen storage diseases(GSDs)are a group of autosomal recessive disorders of glucose metabolism.GSDs are caused by congenital deficiency of enzymes in glycogen synthesis or decomposition,which results in glycogen accumulation in organs.According to the types of enzyme deficiency,GSDs can be classified into more than ten types,among which GSD Ⅻ is a super-rare type of GSD.Two brothers with a 5-year age difference presented severe neonatal asphyxia,myasthenia,myocardial damage,anemia,and mental retarda-tion,being GSD Ⅻ homozygous cases with neonatal onset.The results of gene detection showed that nucleotide and amino acid alterations(c.619G＞A,p.E207K)of the ALDOA gene existed in the two brothers,being ho-mozygous,and the genotypes in the parents were heterozygous.This article summarized the clinical features,di-agnosis,and treatment of GSD Ⅻ,providing reference for exploring the etiology and treatment of severe asphyxia,myasthenia,anemia,and multiple organ damage in neonates after birth.

ObjectivesTo compare the clinical efficacy and complications of anatomic locking titanium plate （hereinafter referred to as “titanium plate screw”） and intramedullary nail in the treatment of distal tibial fractures.Methods From September 2019 to September 2021， 32 patients diagnosed with AO-A fracture of distal tibia at Sun Yat-sen Memorial Hospital of Sun Yat-sen University were included in this study. Of these， 15 cases were treated with titanium plate screws and 17 cases were treated with intramedullary nails. General surgical indexes， fracture healing time and postoperative operation were compared between the two groups.ResultsAll patients were followed up for 10 to 20 months， with an average of 12 months. The operative time and intraoperative fluoroscopy times of intramedullary nail group were longer than those of titanium plate screw group， but the preoperative waiting time and hospitalization days was less or were fewer than those of titanium plate screw group， the difference was statistically significant （P < 0.05）. There was no significant difference in fracture healing time between the two groups （P> 0.05）. At 6 weeks after operation， VAS scores in both groups were lower than those before operation， with statistically significant difference （P<0.05）. There was no significant difference in VAS scores between the intramedullary nail group and the titanium plate screw group （P> 0.05）. AOFAS scores 6 months after surgery， ankle joint motion and complication rate 1 year after surgery in intramedullary screw group were better than those in titanium plate screw group， and the differences were statistically significant （P< 0.05）. There was no significant difference in AOFAS scores between the two groups at 1 year after operation （P> 0.05）.ConclusionTitanium plate screw and intramedullary nail are both effective methods for the treatment of distal tibial AO-A fracture， and there is no significant difference in long-term clinical efficacy. Intramedullary nail has fewer soft tissue complications， less impact on ankle motion， faster recovery and higher safety， while titanium plate screw has a higher probability of postoperative soft tissue infection. We suggest that in clinical work， preoperative evaluation of patients should be done well. Under the premise of grasping the indications， intramedullary nail has fewer complications and certain advantages.

Objective:To explore the predictive value of preoperative pelvic floor electromyography(EMG)parameters for the risk of urinary incontinence after prostate cancer surgery.Methods:This study retrospectively analyzed the medical records of 271 patients who underwent radical prostatectomy in the urology department of Peking University First Hospital from January 2020 to October 2022.The data included patient age,body mass index(BMI),international prostate symptom score(IPSS),prostate-specific antigen(PSA)levels,Gleason score,type of surgery,urethral reconstruction,lymph node dis-section,nerve preservation,catheterization duration,D'Amico risk classification,American Society of Anesthesiologists(ASA)score,Charlson comorbidity index,postoperative duration,prostate volume,and pelvic floor EMG parameters(pre-resting mean,fast muscle mean,and slow muscle mean scores).Independent risk factors affecting early postoperative urinary incontinence were identified through multiva-riate Logistic regression analysis.The predictive efficacy of pelvic floor EMG results was evaluated by cal-culating the area under the receiver operating characteristic(ROC)curve,and the optimal threshold for early postoperative urinary incontinence was determined based on the Youden index and clinical signifi-cance.Results:The study included 271 prostate cancer patients,with an 81.9％rate of voluntary urinary control post-surgery.The median score for fast pelvic floor muscles was 23.5(18.2,31.6),and for slow muscles,it was 12.5(9.6,17.3).Among the patients,179(66.1％)did not preserve nerves,and 110(40.6％)underwent urethral reconstruction.Advanced age and low fast muscle scores were identified as independent risk factors for urinary incontinence.Patients aged ≤60 had 5.482 times the voluntary urinary control rate compared with those aged ≥70(95％CI:1.532-19.617,P＜0.05).There was a significant correlation between fast muscle scores and urinary incontinence recovery(OR=1.209,95％CI:1.132-1.291,P＜0.05).When the optimal threshold for preoperative fast muscle score was set at 18.5,the ROC sensitivity and specificity were 80.6％and 61.2％,respectively.Con-clusion:Preoperative pelvic floor EMG parameters show good predictive accuracy and clinical applicabili-ty for the risk of urinary incontinence after prostate cancer surgery.These parameters can be used for ear-ly identification of urinary incontinence risk,with age and fast muscle scores being important predictors.

Objective:To investigate the etiological distribution of hydronephrosis caused by upper uri-nary tract obstruction in adult patients and to improve the diagnostic accuracy for this condition.Me-thods:The clinical information of adult patients with newly diagnosed hydronephrosis in Upper Urinary Tract Repair Outpatient Clinic of Peking University First Hospital from May 2020 to May 2021 were pro-spectively and continuously collected.Patients with ureteral calculi or upper urinary tract tumor were ex-cluded.A total of 767 patients were involved.The underlying causes of upper urinary tract obstruction were identified by senior urological surgeons according to symptoms,medical history,physical examina-tion,and a range of diagnostic imaging techniques including ultrasound,computed tomography(CT),magnetic resonance imaging(MRI),retrograde pyelography,antegrade pyelography,radionuclide reno-gram and ureteroscopy.Results:Among the 767 patients,359(46.8％)were male and 408(53.2％)were female.The median age of these patients was 37 years(range,14-84 years).Hydronephrosis was observed at left-sided in 357 cases(46.6％),right-sided in 251 cases(32.7％),and bilateral in 159 cases(20.7％).The causes of hydronephrosis were classified as follows:(1)Non-iatrogenic factors were found in 464 cases(60.5％).These included urinary malformations in 355 cases(76.5％),infec-tion in 29 cases(6.3％),pelvic lipomatosis and/or cystitis glandularis in 23 cases(5.0％),ureteral en-dometriosis in 18 cases(3.9％),retroperitoneal fibrosis in 15 cases(3.2％),trauma in 7 cases(1.5％)and other non-iatrogenic factors in 12 cases(2.6％).Some of these patients had multiple non-iatrogenic causes.Among the 355 cases with urinary system malformations,252 cases(71.0％)had ureteropelvic junction obstruction.(2)Iatrogenic ureteral injuries accounted for 210 cases(27.4％),including 112 cases(53.3％)of urological surgical injuries,51 cases(24.3％)of radiotherapy for malignant tumor re-lated injuries,34 cases(16.2％)of gynecological and obstetrical surgical injuries,and 13 cases(6.2％)of general surgical injuries.(3)The cause of hydronephrosis remained unknown in 93 cases(12.1％).Conclusion:Hydronephrosis in adults due to upper urinary tract obstruction has a diverse range of cau-ses,with urinary malformations and iatrogenic ureteral injuries being significant contributors.Urological surgeon involved in upper urinary tract reconstruction should be familiar with these potential causes to fa-cilitate accurate diagnosis and effective treatment.

Objective:To construct and validate a machine learning model for preoperative prediction of perineural invasion (PNI) status in intrahepatic cholangiocarcinoma (ICC).Methods:Clincial data of 329 patients, including 245 admitted to Zhengzhou University People's Hospital from January 2018 to June 2023 and 84 admitted to the Affiliated Cancer Hospital of Zhengzhou University from January 2013 to January 2020 were retrospectively analyzed. Patients were divided into a training set ( n=231) and a validation set ( n=98). Clinicopathological data including age, gender, hepatitis B virus (HBV) infection status were collected. Predictive variables were determined using least absolute shrinkage and selection operator (LASSO) regression analysis. Six machine learning algorithms including random forest (RF), logistic regression, and linear kernel-based support vector machine were selected to construct the preoperative prediction model for PNI in ICC. Performance metrics of the model were calculated using a confusion matrix, and the final model was selected. The model performance was evaluated in the validation set. Calibration curves were plotted to evaluate the final model, and a Pareto chart was used to visualize the importance of predictive variables. Results:LASSO regression identified nine predictive variables included in the prediction model, including carbohydrate antigen 19-9 (CA19-9), HBV infection status, alkaline phosphatase, alanine aminotransferase, prothrombin time, total bilirubin, albumin, neutrophil times gamma-glutamyl transferase to lymphocyte ratio, and tumor burden score. Among the trained six models, the area under the curve (AUC) of the RF model was 0.909, with a sensitivity of 0.842 and an accuracy of 0.870. Compared with the AUC of the RF model, the AUCs of the other 5 models were lower (all P<0.05). The AUC of the RF model for predicting PNI in ICC in validation set was 0.736. Calibration curves showed good fit of the RF model's prediction of PNI in ICC in both training and validation sets. The Pareto chart showed that CA19-9 was the most important predictive variable in the model, followed by HBV infection status. Conclusion:The machine learning model based on the RF algorithm has a high accuracy in preoperative prediction of PNI status in ICC.

BACKGROUND: Evidence on the relations of the American Heart Association's ideal cardiovascular health (ICH) with mortality in Asians is sparse, and the interaction between behavioral and medical metrics remained unclear. We aimed to fill the gaps. METHODS: A total of 198,164 participants without cancer and cardiovascular disease (CVD) were included from the China Kadoorie Biobank study (2004-2018), Dongfeng-Tongji cohort (2008-2018), and Kailuan study (2006-2019). Four behaviors (i.e., smoking, physical activity, diet, body mass index) and three medical factors (i.e., blood pressure, blood glucose, and blood lipid) were classified into poor, intermediate, and ideal levels (0, 1, and 2 points), which constituted 8-point behavioral, 6-point medical, and 14-point ICH scores. Results of Cox regression from three cohorts were pooled using random-effects models of meta-analysis. RESULTS: During about 2 million person-years, 20,176 deaths were recorded. After controlling for demographic characteristics and alcohol drinking, hazard ratios (95% confidence intervals) comparing ICH scores of 10-14 vs. 0-6 were 0.52 (0.41-0.67), 0.44 (0.37-0.53), 0.54 (0.45-0.66), and 0.86 (0.64-1.14) for all-cause, CVD, respiratory, and cancer mortality. A higher behavioral or medical score was independently associated with lower all-cause and CVD mortality among the total population and populations with different levels of behavioral or medical health equally, and no interaction was observed. CONCLUSIONS ICH was associated with lower all-cause, CVD, and respiratory mortality among Chinese adults. Both behavioral and medical health should be improved to prevent premature deaths.
Adult ; Humans ; Cardiovascular Diseases/prevention & control* ; East Asian People ; Prospective Studies ; Risk Factors ; Smoking

Objective:To analyze the clinical characteristics of patients with spontaneous low intracranial pressure (SIH).Methods:The study is a retrospective series. The clinical data of patients with SIH who visited Beijing Hospital from May 2017 to March 2022, including gender, age, symptoms, signs, imaging findings, treatment and outcome, were collected and their clinical characteristics were analyzed.Results:Finally, 8 patients with SIH, 6 females and 2 males, aged (33.5±7.3) years, were included. There were 6 cases of acute onset, 1 case of subacute onset, and 1 case of chronic onset. Four cases had pre-onset triggers, 3 cases were exertional and 1 case was exercise. All 8 cases had orthostatic headache. Three cases were accompanied by neck pain. Six cases were accompanied by autonomic dysfunction, 1 case with blurred vision and neck resistance, and 1 case with tinnitus in both ears. There were no obvious abnormalities in blood routine, liver and kidney function, electrolytes, and coagulation function in 8 cases. The results of the lumbar puncture showed that the cerebrospinal fluid pressure was≤60 mmH 2O(1 mmH 2O=0.009 8 kPa) in 7 cases, and 2 cases were so low that they were undetectable. One patient had normal cerebrospinal fluid pressure (90 mmH 2O). The routine results of cerebrospinal fluid showed 4 cases of an increased number of red blood cells and 2 cases of leukocytosis. The biochemical results of cerebrospinal fluid in all 8 cases were normal. All 8 patients underwent non-contrast MRI scan of the head, and 6 cases found abnormalities, including 2 cases of subdural hematoma, 1 case of subarachnoid hemorrhage, 1 case of brain tissue sinking, and 3 cases of intracranial venous sinus dilation (including 1 case with subdural hematoma). All 8 patients underwent MRI enhancement scan of the head, and 5 patients showed diffuse dural enhancement. Three patients underwent digital subtraction angiography myelogram and computed tomography myelogram, and 2 cases found dural cerebrospinal fluid leakage. One patient underwent magnetic resonance water imaging and no cerebrospinal fluid leakage was found. Eight patients were followed up for 38.5 (10.3, 63.0) months, after conservative treatment, 6 cases of headache relief or disappearance, 1 case relapsed and was admitted 1 week after discharge, non-targeted epidural blood patching (EBP) did not relapse, 1 case underwent non-targeted EBP after conservative treatment failure, headache relief, recurrence after 2 months, thoracic spine 3-4 space targeted EBP, headache disappeared, did not recur. Conclusions:The present study indicate that SIH prevalence in young age is common, the main symptom is orthostatic headache, accommodated with multiple clinical symptoms with various imaging abnormalities. Most patients with SIH can be treated conservatively, if the effect is not good, non-targeted or targeted EBP is feasible.

Humans ; Blood Pressure/physiology* ; Cohort Studies ; Patient Discharge ; Ischemic Stroke ; Stroke ; Brain Ischemia ; Diabetes Mellitus ; Hypertension

OBJECTIVE To explore the feasibility of microfluidic chip in the rapid detection of pesticide residues in Dendrobium officinale. METHODS The sample was extracted with organic solvent, and purified with QuEChERS dispersive SPE, high throughput screening of enzymes for pesticide residue detection from different manufacturers by centrifugal microfluidic chips. The matrix interference was investigated by negative samples with different horizontal adding methods. The sensitivity, repeatability sand accuracy of the microfluidic chip were investigated, and sample results determined by mass spectrometry were compared with them. RESULTS The results revealed that the significant difference rate of rapid detection method was 0.25; the sensitivity was 99.6%; the specificity was 96.4%; the false negative rate was 0.39%; the false positive rate was 3.57%; the accuracy was 98.81%. Two methods of rapid detection of pesticide residues by microfluidic chip and mass spectrometry were used to detect 40 batches of samples. The results indicated that the two methods had a high consistency, compliance rate of testing results were 100%. CONCLUSION Microfluidic chip rapid detection technology can be used for detecting pesticide residues in Dendrobium officinale, which can meet the screening needs of the basic non-professional person to detect the quality of large quantities of pesticide residues.

BACKGROUND: Primary lung squamous carcinoma that produces alpha-fetoprotein (AFP) is rare and only four related cases have been reported so far. The specific reasons for elevated serum level of AFP and effective treatment regimens for AFP-producing lung squamous carcinoma are not clear. This paper reports the diagnosis and treatment of AFP-producing lung squamous carcinoma so as to provide some references for similar cases in clinical practice. METHODS: The diagnosis and treatment of an AFP-producing lung squamous carcinoma patient admitted to the Shandong Cancer Hospital on October 23, 2020 was retrospectively analyzed, and literatures were reviewed. RESULTS: A 52-year-old male patient was diagnosed as T4N3M0 stage, IIIc right upper lobe lung squamous cell carcinoma with mediastinal lymph node metastasis and multiple metastases in the lung. The main tumor marker was abnormally increased serum AFP. After the rapid progression of two lines chemotherapy, the patient was given anlotinib combined with carrizumab as third-line treatment. The efficacy evaluation reached to partial response (PR) and stable disease (SD) after 2 and 4 cycles of treatment, respectively. The treatment regimen was replaced with albumin paclitaxel plus carrizumab due to gastrointestinal bleeding after the fifth cycle. The patient's condition was under continuous control. CONCLUSIONS The AFP-producing lung squamous carcinoma patient had a good response to anlotinib and immunotherapy in the case report, which may provide some guidances for the clinical practice and the research on AFP-producing lung squamous carcinoma.
Carcinoma, Non-Small-Cell Lung ; Carcinoma, Squamous Cell/drug therapy* ; Humans ; Lung ; Lung Neoplasms/drug therapy* ; Male ; Middle Aged ; Retrospective Studies ; alpha-Fetoproteins