To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Objective To explore TCM syndrome distribution law in patients with overlapping non-erosive reflux disease(NERD)and epigastric pain syndrome(EPS)gastrointestinal symptoms.Methods A multi-center,cross-sectional study was conducted to investigate the general information of 800 patients with overlapping NERD and EPS gastrointestinal symptoms in four hospitals,such as gender,age,body mass index(BMI)and four diagnostic information of TCM.Descriptive frequency analysis,factor analysis and clustering analysis were used to summarize the TCM syndrome types and distribution characteristics.Results The average age of 800 patients with overlapping NERD and EPS gastrointestinal symptoms was(44.50±14.43)years old,the average BMI was(23.17±4.80)kg/m2,and the male to female ratio was 3:5.Frequency of 95 TCM symptoms/signs≥20%.18 common factor variables were obtained based on factor analysis,and the cumulative contribution rate was 67.11%.The first three syndrome elements of disease location were liver,stomach and spleen,and the disease nature syndrome elements were qi stagnation,qi deficiency and yin deficiency.Based on the clustering analysis of 18 common factor variables,combined with expert discussion,four main TCM syndrome types were obtained,which were liver-stomach stagnation heat syndrome(213 cases,26.63%),spleen-stomach damp heat syndrome(209 cases,26.13%),spleen-stomach deficiency and cold qi stagnation syndrome(190 cases,23.75%)and qi-phlegm stagnation syndrome(188 cases,23.50%).There was no significant difference in the distribution of TCM syndrome types among patients with different genders,ages and BMI values(P>0.05).Patients with a course of disease≥2 years and those residing long-term north of the Qinling-Huaihe Line showed a significantly higher prevalence of spleen-stomach dampness-heat syndrome(P<0.05).Conclusion The syndrome elements of disease location of overlapping NERD and EPS gastrointestinal symptoms are mainly liver,stomach and spleen.The TCM syndrome types are liver-stomach stagnation heat syndrome,spleen-stomach damp heat syndrome,spleen-stomach deficiency cold qi stagnation syndrome and qi-phlegm stagnation syndrome.The course of disease and the regional differences between north and south may be the influencing factors of the distribution of syndrome types.

The preferred treatment for adrenal functional tumors is laparoscopic surgical resection. However, in recent years, various ablation techniques have gradually been applied in the treatment of adrenal tumors. This report presents the successful diagnosis and treatment experience of 4 aldosterone-producing adenomas and 1 cortisol-secreting adenoma treated with a combined cold and hot ablation system at Xi’an Daxing Hospital from Dec. 2023 to Dec. 2024, providing a new treatment approach for clinical exploration.

The preferred treatment for adrenal functional tumors is laparoscopic surgical resection. However, in recent years, various ablation techniques have gradually been applied in the treatment of adrenal tumors. This report presents the successful diagnosis and treatment experience of 4 aldosterone-producing adenomas and 1 cortisol-secreting adenoma treated with a combined cold and hot ablation system at Xi’an Daxing Hospital from Dec. 2023 to Dec. 2024, providing a new treatment approach for clinical exploration.

Objective To explore TCM syndrome distribution law in patients with overlapping non-erosive reflux disease(NERD)and epigastric pain syndrome(EPS)gastrointestinal symptoms.Methods A multi-center,cross-sectional study was conducted to investigate the general information of 800 patients with overlapping NERD and EPS gastrointestinal symptoms in four hospitals,such as gender,age,body mass index(BMI)and four diagnostic information of TCM.Descriptive frequency analysis,factor analysis and clustering analysis were used to summarize the TCM syndrome types and distribution characteristics.Results The average age of 800 patients with overlapping NERD and EPS gastrointestinal symptoms was(44.50±14.43)years old,the average BMI was(23.17±4.80)kg/m2,and the male to female ratio was 3:5.Frequency of 95 TCM symptoms/signs≥20%.18 common factor variables were obtained based on factor analysis,and the cumulative contribution rate was 67.11%.The first three syndrome elements of disease location were liver,stomach and spleen,and the disease nature syndrome elements were qi stagnation,qi deficiency and yin deficiency.Based on the clustering analysis of 18 common factor variables,combined with expert discussion,four main TCM syndrome types were obtained,which were liver-stomach stagnation heat syndrome(213 cases,26.63%),spleen-stomach damp heat syndrome(209 cases,26.13%),spleen-stomach deficiency and cold qi stagnation syndrome(190 cases,23.75%)and qi-phlegm stagnation syndrome(188 cases,23.50%).There was no significant difference in the distribution of TCM syndrome types among patients with different genders,ages and BMI values(P>0.05).Patients with a course of disease≥2 years and those residing long-term north of the Qinling-Huaihe Line showed a significantly higher prevalence of spleen-stomach dampness-heat syndrome(P<0.05).Conclusion The syndrome elements of disease location of overlapping NERD and EPS gastrointestinal symptoms are mainly liver,stomach and spleen.The TCM syndrome types are liver-stomach stagnation heat syndrome,spleen-stomach damp heat syndrome,spleen-stomach deficiency cold qi stagnation syndrome and qi-phlegm stagnation syndrome.The course of disease and the regional differences between north and south may be the influencing factors of the distribution of syndrome types.

Objective:To study the prevalence and clinical characteristics of hepatitis D patients.Methods:A total of 832 144 HBsAg positive persons who were from infectious department of Southwest Hospital Affiliated to Army Military Medical University were screened from January 1, 2010 to December 31, 2020. A total of 13 585 subjects completed relevant Hepatitis Delta virus (HDV) biomarker tests, 157 HDV patients were evaluated. The mean age was 53 ± 13 years, with a range of 22-85 years. The majority of these subjects were male. The prevalence, clinical characteristics, the outcome of 28 days follow-up and the influencing factors of the outcome were analyzed.Results:In recent 10 years, the screening rate related to hepatitis D was only 1.6% (13 585/832 144), and the screening rate was the highest in 2011, up to 4.13% (962/23 289); The positive rate of screening was only 1.17% (157/13 346). In 2012, the positive rate of screening was the highest, up to 3.56% (58/1627). In Southwest Hospital, the source of disease was 66.24% (104/157) in Chongqing, 22.93% (36/157) in Sichuan, 8.28% (13/157) in Guizhou, 1.27% (2/157) in Yunnan, and 0.64% (1/157) in each of Jiangxi and Tibet. Of 157 patients, 29 (18.47%) had non-cirrhotic with chronic low bilirubin hepatitis, 23.57% (37/157) was non-cirrhotic with chronic high bilirubin hepatitis, 28.66% (45/157) had acute-on-chronic liver failure (ACLF), 27.39% (42/157) had compensated cirrhosis or decompensated cirrhosis, and 1.91% (3/157) had primary hepatocellular carcinoma. The incidence of disease progression was 48.89% (22/48) of chronic-on-acute liver failure>33.33%(1/3) of primary hepatocellular carcinoma>25.58%(11/43) of compensated or decompensated cirrhosis>18.92%(7/37) of non-cirrhotic with chronic high bilirubin hepatitis>6.90%(2/29) of non-cirrhotic with chronic low bilirubin hepatitis ( P<0.05). Among them, 7.64%(12/157) had hepatic encephalopathy, and the rate of disease progression was 83.33%(10/12) ( P<0.05); 3.82% (6/157) of them had combined with other hepatophilic viruses including hepatitis C virus (HCV), Epstein-barr virus, (EBV), Cytomegalovirus (CMV) infections. Logistic regression analysis showed that old age, complication with hepatic encephalopathy, hyperbilirubinemia and prolonged coagulation time were independent risk factors affecting the outcome of hepatitis D. Conclusions:In recent 10 years, the screening rate of hepatitis D is low and the positive rate is not high. It should be noted that HDV infection can accelerate the progress of hepatitis and increase the risk of adverse liver outcomes.

Objective:To report a SPTLC2 gene mutation in a family with a phenotype of Charcot-Marie-Tooth disease.Methods:To screen the family of patients with pathogenic mutations of SPTLC2 gene from the database of hereditary peripheral neuropathy in the Department of Neurology, Peking University First Hospital, and to collect their clinical data, peripheral nerve conduction examination, nerve ultrasound examination, pathological examination of the peroneal nerve and whole exome sequencing results of prohand.Results:One family was screened, the proband was a 16-year-old female with 4 years of sensory loss and anhidrosis of both lower limbs and 16 months of walking difficulty who admitted to Peking University First Hospital in January 2022. Physical examination showed sensory loss, dry skin and weakness in distal limbs. Her father had numbness and dry skin in the distal lower limbs from childhood,weakness and atrophy of his lower limbs in adulthood. He died at age of 52 years old. The nerve conduction study revealed no action potentials of the sensory and motor nerves of the lower limbs in the proband. The amplitude of the compound muscle action potential of the motor conduction of the bilateral ulnar nerve and median nerve decreased, and the nerve conduction velocity of the bilateral median nerve were 32 m/s and 24 m/s. Neurosonography showed thickening of peripheral nerves. Sural biopsy revealed severe loss of myelinated and unmyelinated nerve fibers with onion bulbs formation. SPTLC2 gene showed a known heterozygous p.G435V mutation. The lower limb weakness was improved after oral L-serine.Conclusions:SPTLC2 gene mutation can lead to an intermediate Charcot-Marie-Tooth disease phenotype. L-serine can improve the limb weakness.

Chronic liver diseases in children greatly affect their growth and development and quality of life in future.There are many causes of chronic liver diseases in children,and such causes,diet,and treatment guidance are closely associated with prognosis.This article discusses the guidance and follow-up of common chronic liver diseases in children,such as infantile cholestatic liver disease,chronic hepatitis B,hepatolenticular degeneration,and nonalcoholic fatter liver disease,in order to deepen the understanding of these diseases among patients,raise the awareness of follow-up in medical staff,and improve the cure rate of liver diseases with different causes and children's quality of life.

Objective To analyze the normal reference values of left ventricular longitudinal peak systolic strain (LS) and strain rate (LSr) by two-dimensional speckle tracking imaging (2D-STI) in healthy children at different ages.Methods Clinical ultrasound data of 330 healthy children who taking physical examination in our hospital from September 2015 to November 2016 were collected and retrospectively.They were divided into 7 groups according to their ages,that is,neonate group (0 to 28 days old),infant group (28 days to 1 year old),toddle group (1 to 3 years old),pre-school group (3 to 6 years old),school age group (6 to 9 years old),pre-adolescence group (9 to 13 years old) and adolescence group (13 to 18 years old).2D-STI was performed in the 3 apical projections of left ventricle (LV).The regional peak systolic longitudinal strain and strain rate of LV were measured.Results ① Significant differences were found in the LS and LSr values from 6 segments of the same wall (P ＜ 0.05),and the LS and LSr values were gradually increased from basal segment to apical segment.②There were no significant differences in the LS,LSr and global LS (GLS) values of 18 segments between sexes (P ＞ 0.05).③ Except the basal segments of posterior wall,inferior wall and posterior septum,LS value was gradually elevated with the increase of age (LS ＜LSinfant ＜ LStoddler,pre-shool and school age ＜ LSpre-adolescence and adolescence),So was GLS value.④LS in 18 segments had a positive correlation with age,and the value of apical segment in lateral wall was most remarkably correlated (r =0.551,P ＜0.01);Regional LS had a negative correlation with heart rate,and that of middle segment in lateral wall was the most apparent (r =-0.625,P ＜ 0.01);GLS was positively influenced by age (r =0.665,P ＜ 0.01) and negatively affected by heart rate (r =-0.625,P ＜ 0.01).⑤The heterogeneities were found in the correlations of regional LSr with age and heart rate in segments and in the LSr among different age groups.Conclusion Normal reference values of LV peak LS and LSr are established for healthy children at different ages,and they possess their own characteristics.