Background::Dilated cardiomyopathy (DCM) has a high mortality rate and is the most common indication for heart transplantation. Our study sought to develop a multiparametric nomogram to assess individualized all-cause mortality or heart transplantation (ACM/HTx) risk in DCM patients.Methods::The present study is a retrospective cohort study. The demographic, clinical, blood test, and cardiac magnetic resonance imaging (CMRI) data of DCM patients in the tertiary center (Fuwai Hospital) were collected. The primary endpoint was ACM/HTx. The least absolute shrinkage and selection operator (LASSO) Cox regression model was applied for variable selection. Multivariable Cox regression was used to develop a nomogram. The concordance index (C-index), area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA) were used to evaluate the performance of the nomogram.Results::A total of 218 patients were included in the present study. They were randomly divided into a training cohort and a validation cohort. The nomogram was established based on eight variables, including mid-wall late gadolinium enhancement, systolic blood pressure, diastolic blood pressure, left ventricular ejection fraction, left ventricular end-diastolic diameter, left ventricular end-diastolic volume index, free triiodothyronine, and N-terminal pro-B type natriuretic peptide. The AUCs regarding 1-year, 3-year, and 5-year ACM/HTx events were 0.859, 0.831, and 0.840 in the training cohort and 0.770, 0.789, and 0.819 in the validation cohort, respectively. The calibration curve and DCA showed good accuracy and clinical utility of the nomogram.Conclusions::We established and validated a circulating biomarker- and CMRI-based nomogram that could provide a personalized prediction of ACM/HTx for DCM patients, which might help risk stratification and decision-making in clinical practice.

Objective:To evaluate the effects of parathyroid autotransplantation on total central lymph node dissection and postoperative parathyroid functional recovery in endoscopic radical operation for thyroid carcinoma.Method:The data of 152 patients undergoing endoscopic radical operation for thyroid carcinoma are retrospectively analyzed. The incidence of postoperative hypoparathyroidism, serum PTH and Ca 2+ concentrations at different time points, and the number of lymph nodes cleared were counted. Results:The rate of temporary hypoparathyroidism in the experimental group was higher than that in the control group, and the incidence of permanent hypoparathyroidism was lower than that in the control group, with statistically significant differences ( χ2=6.243, P=0.029). Patient's PTH in the experimental group is significantly higher than that in the control group at 1 week, 1 , 3 , 6 and 12 months after operation, and the difference is statistically significant ( F=25.193, P<0.05); Ca 2+ concentration in experimental group is higher than that in control group at 1, 3, 6 and 12 months after operation, and the difference is statistically significant ( F=3.268, P=0.005); The average number of central zone lymph node dissection and positive lymph nodes per case in the experimental group was higher than that in the control group, and the difference was statistically significant ( t=2.000, P=0.047; t=2.014, P=0.046). Conclusion:In radical lumpectomy for thyroid cancer, parathyroid autotransplantation can effectively prevent permanent postoperative hypoparathyroidism while achieving a more complete lymph node dissection in the central region.

Hiatal hernia (HH) is a prevalent medical condition characterized by the protrusion of abdominal contents into the thoracic cavity through an enlarged diaphragmatic esophageal hiatus. The most common clinical manifestations of HH include acid reflux, heartburn, belching, coughing, and chest pain. Currently, there is a lack of standardized comprehensive treatment protocols for different types of HH, presenting significant challenges in their clinical management. In light of this, individualized treatment approaches should be followed by surgical practitioners when dealing with HH, in order to formulate the most appropriate clinical treatment plan tailored to each patient′s specific circumstances.

A 26-year-old male presented with tremor of bilateral shoulders and hands as the major symptom and also had cognitive and emotional abnormalities for more than 1 year, who was diagnosed as cerebral hepatolenticular degeneration (HLD) in Tongji Hospital of Huazhong University of Science and Technology in October 2021. The serum ceruloplasmin and urine copper levels of the patient were 0.023 g/L and 3760.00 μg/24 h, respectively, and the Kayser-Fleischer (K-F) ring was seen in the cornea. Genetic testing revealed a homozygous mutation of ATP7B gene c.2975C>T (p.Pro992Leu), while transcranial sonography (TCS) showed lenticular nucleus hyper-echogenicity. The literature was searched using hepatolenticular degeneration and transcranial sonography as key words; and 9 articles involving 150 HLD cases were obtained. The lenticular nucleus hyper-echogenicity was presented in 76.9% HLD patients (150/195), while only in 12.7% healthy subjects (17/134) ( P<0.001), suggesting that advanced transcranial sonography can detect the metal deposition and may be used for diagnosis of cerebral HLD.

Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

Objective To assess the risk of public health incidents in the Hankou River Beach during the 7th World Military Games, and to provide reference for risk early warning and emergency preparedness. Methods An expert consultation meeting was held to determine the evaluation index and risk scores. Based on the Kaiser model, a public health risk assessment system suitable for Hankou River Beach was established, and the risk value of each risk event was calculated by the method of risk value calculation. The risk matrix method was used to evaluate the risk levels of different risk events in different areas of Hankou River Beach. Then, according to the calculated Borda values and order values of risk events in different regions, the different risks were ranked in each area. Results The calculation revealed that the risk values of schistosomiasis in the first, second, third and fourth stages of the river beach were 8.43%, 14.68%, 25.26% and 27.56%, respectively; the risk values of vector infectious diseases in each stage were 13.42%, 16.40%, 18.67% and 19.22%; the risk values of accidental injury and other events were 20.34%, 22.94%, 19.00% and 16.53%. According to the risk matrix, the first and second stages of schistosomiasis and vector borne infectious diseases, as well as the fourth stage of accidental injuries were located in the low-risk zone, while the other risk events were in the medium risk zone. The ranking results of Borda sequence value showed that the highest risk public health events in the first and second phases of the river beach were accidental injuries and others, in the third phase was schistosomiasis and accidental injuries, and in the fourth phase was schistosomiasis. Conclusion Considering the results of each evaluation method, the public health events with the highest risk in phase I and phase II of the river beach were accidental injuries, while in phase III and phase IV were schistosomiasis. It is suggested that relevant departments should formulate different strategies and take targeted measures to ensure the public health and safety of Hankou river beach during the Military Games.

Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.

PURPOSE: The significance of neuroendocrine differentiation (NED) in gastric carcinoma (GC) is controversial, leading to ambiguous concepts in traditional classifications. This study aimed to determine the prognostic threshold of meaningful NED in GC and clarify its unclear features in existing classifications. MATERIALS AND METHODS: Immunohistochemical staining for synaptophysin, chromogranin A, and neural cell adhesion molecule was performed for 945 GC specimens. Survival analysis was performed using the log-rank test and univariate/multivariate models with percentages of NED (PNED) and demographic and clinicopathological parameters. RESULTS: In total, 275 (29.1%) cases were immunoreactive to at least 1 neuroendocrine (NE) marker. GC-NED was more common in the upper third of the stomach. PNED, and Borrmann's classification and tumor, lymph node, metastasis stages were independent prognostic factors. The cutoff PNED was 10%, beyond which patients had significantly worse outcomes, although the risk did not increase with higher PNED. Tumors with ≥10% NED tended to manifest as Borrmann type III lesion with mixed/diffuse morphology and poorer histological differentiation; the NE components in this population mainly grew in insulae/nests, which differed from the predominant growth pattern (glandular/acinar) in GC with <10% NED. CONCLUSIONS: GC with ≥10% NED should be classified as a distinct subtype because of its worse prognosis, and more attention should be paid to the necessity of additional therapeutics for NE components.
Adenocarcinoma ; Chromogranin A ; Classification ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Metastasis ; Neural Cell Adhesion Molecules ; Prognosis ; Stomach ; Stomach Neoplasms ; Synaptophysin

Objective To study the curative effects of jejunal exclusion surgery for STZ-induced T2DM SD rats.Methods 60 SD rats were induced to be the T2DM SD rats by intraperitoneal injection of streptozotocini.As a result,55 T2DM SD rats were successfully acquired which were randomly divided into 3 groups,20 rats in the jejunal exclusion group (A),20 rats in the sham operation group (B) and 15 rats in the control group (C).Jejunal exclusion surgery was performed in group A,jejunojejunostomy was performed in group B,and group C were fed normally.The body weight,fasting blood glucose,fasting plasma insuhn level and GLP-1 level were measured before operation and at the 1st,2rid,4th,8th and 16th week after operation.Results As compared with that before operation and that of the control group,the body weight in group A markedly declined at the 2nd,4th,8th and 16th week (352.14±9.00,342.84±8.90,336.64±10.26,330.34±9.12,P＜0.05).The fasting plasma glucose levels in group A markedly declined at the 2nd,4th,8th and 16th week (14.62±1.10,12.12±1.38,8.75± 1.06,7.55±1.00,P＜0.05).The fasting plasma insulin level in group A was maikedly increased at the 2nd,4th,8th and 16th week (14.62±3.10,16.12±3.38,17.75±4.06,17.55±3.10,P＜0.05).GLP-1 level in group A was markedly increased at the 1st,2nd,4th,8th and 16th week (11.02±0.85,14.42±1.18,16.02±1.59,17.62±1.02,18.12±0.71,P＜0.05).Conclusions The jejunal exclusion surgery is effective in controlling blood glucose,which is an ideal and lasting method.This surgery has also showed influence on body weight.