Fanconi anemia (FA) is an inheritable disorder that presents with bone marrow failure, developmental anomalies, and an increased susceptibility to cancer. The etiology of this condition stems from a genetic mutation that disrupts the proper repair of interstrand DNA cross-links (ICLs). The resultant dysregulation of the DNA damage response mechanism can induce genomic instability, thereby elevating the mutation rates and the likelihood of developing cancer. The FA pathway assumes a pivotal role in safeguarding genome stability through its involvement in the repair of DNA cross-links and the maintenance of overall genomic integrity. A mutation in the germ line of any of the genes responsible for encoding the FA protein results in the development of FA. The prevalence of aberrant FA gene expression in somatic cancer, coupled with the identification of a connection between FA pathway activation and resistance to chemotherapy, has solidified the correlation between the FA pathway and cancer. Consequently, targeted therapies that exploit FA pathway gene abnormalities are being progressively developed and implemented. This review critically examines the involvement of the FA protein in the repair of ICLs, the regulation of the FA signaling network, and its implications in cancer pathogenesis and prognosis. Additionally, it explores the potential utility of small-molecule inhibitors that target the FA pathway.

Objective:To evaluate the short-term and long-term efficacy of Heidelberg triangle dissection in surgical treatment for pancreatic head cancer.Methods:The clinicopathological data of 97 patients with pancreatic head cancer who underwent pancreaticoduodenectomy at Cangzhou Central Hospital from Jan 2017 to Jan 2020 were retrospectively analyzed. After propensity score matching, 33 patients were included into the Heidelberg group and 36 patients in the control group.Results:There were no significant difference between Heidelberg group and control group in preoperative general conditions and postoperative major complications, while there were more cases with safe surgical margin > 1 mm (81.8% vs. 58.3%, P=0.034) and a significantly higher total number of lymph node dissection (11.24±2.35 vs. 9.50±2.76, P=0.006). In the survival analysis, the cumulative recurrence rate at 12 months (0.182±0.067 vs. 0.444±0.083, P=0.023) and 18 months (0.424±0.086 vs. 0.667±0.079, P=0.024) were better off in the Heidelberg group, and the local recurrence rate in the Heidelberg group was significantly lower than that in the control group (15.3 % vs. 36.1 %, P=0.037). However, there was no statistical difference in the overall survival time between the two groups. Conclusion:Dissection of Heidelberg triangle in radical resection of pancreatic head cancer reduces tumor local recurrence ,while fails to provide survival benefit.

Objective:To explore the effects of life events, family environment and coping style on self-injury behavior in adolescents with first-episode depression.Methods:From July 2019 to December 2022, a total of 110 adolescent patients with first-episode depression were selected in the Psychiatry Department of the First Affiliated Hospital of Zhengzhou University. According to whether the patients had self-injury behavior, the patients were divided into group without self-injury( n=54)and group with self-injury( n=56).Patients in the two groups were evaluated by a general clinical data questionnaire, adolescent self-rating life events checklist (ASLEC), family environment scale-Chinese version(FES-CV), simplified coping style questionnaire (SCSQ), 24 items Hamilton depression scale (HAMD-24), Hamilton anxiety scale (HAMA) and 90 symptom checklist-90 (SCL-90). Statistical analysis including t-test, χ2 test and binary Logistic regression analysis were performed on the enrolled data by SPSS 25.0 statistical software. Results:Among 110 patients, there were 56 patients(50.9%) exhibited self-injury behavior.The scores of ASLEC(51.04±5.99, 48.02±6.86), intimacy(3.70±1.85, 4.59±1.60), emotional expression(3.84±1.80, 4.69±1.96), positive coping styles(15.84±5.85, 18.22±4.84), negative coping styles(12.50±3.23, 11.06±3.64), and HAMA(20.63±2.86, 19.48±2.55) showed statistically significant differences between the group with and without self-injury ( t=-2.46, 2.72, 2.36, 2.32, -2.20, -2.21, all P<0.05). Binary Logistic regression analysis showed that life events ( B=0.079, OR=1.083, 95% CI=1.008-1.163, P=0.030), negative coping style ( B=0.173, OR=1.188, 95% CI=1.033-1.367, P=0.016), HAMA ( B=0.225, OR=1.252, 95% CI=1.057-1.482, P=0.009) were risk factors for self-injury, while intimacy ( B=-0.264, OR=0.768, 95% CI=0.593-0.995, P=0.046) and positive coping styles ( B=-0.092, OR=0.912, 95% CI=0.834-0.997, P=0.044) were protective factors for self-injury. Conclusion:The self-injury behavior of adolescents with first-episode depression may be related to negative life events, early adverse family environment and coping style.

Objective:To explore the effects of depressive symptoms on sleep quality in adolescents with depressive disorder, and the mediating roles of cognitive fusion and sleep belief.Methods:A sample of 210 adolescents with first episode depressive disorder aged 12-18 years were recruited to complete 17-item Hamilton depression scale (HAMD-17), Pittsburgh sleep quality index (PSQI), cognitive fusion questionnaire (CFQ), and dysfunctional beliefs and attitudes about sleep scale (DBAS-16) from November 2021 to July 2022. SPSS 26.0 software was used to perform descriptive analysis and correlation analysis. The mediating effect was tested by Bootstrap analysis using PROCESS V 3.4 Macro program.Results:The incidence of low sleep quality in adolescents with depressive disorder was 69.0%(145/210). HAMD-17 score was (22.4±7.9), PSQI score was (9.7±3.7), CFQ score was (51.6±7.8), DBAS-16 score was (43.5±8.4).PSQI was positively correlated with the scores of HAMD-17 and CFQ( r=0.613, 0.463, both P<0.001).HAMD-17 was positively correlated with CFQ score ( r=0.488, P<0.001).DBAS-16 was negatively correlated with scores of PSQI, HAMD-17 and CFQ( r=-0.326, -0.284, -0.354, all P<0.001). The direct effect of depression on sleep quality was 0.230(95% CI=0.169-0.293). The indirect effect of depression on sleep quality through two pathways, the separate mediating effect value of cognitive fusion was 0.041 (95% CI=0.011-0.074), and the chain mediating effect value of cognitive fusion and sleep beliefs was 0.008(95% CI=0.001-0.020). Conclusion:Depressive symptoms can directly affect sleep quality of depressive disorder adolescents and indirectly through cognitive fusion and sleep beliefs.

Objective:To analyze the status of respiratory pathogen detection and the clinical features in children with Mycoplasma pneumoniae pneumonia (MPP). Methods:A prospective, multicenter study was conducted to collect clinical data, including medical history, laboratory examinations and multiplex PCR tests of children diagnosed with MPP from 4 hospitals in China between November 15 th and December 20 th, 2023. The multiplex PCR results and clinical characteristics of MPP children in different regions were analyzed. The children were divided into severe and mild groups according to the severity of the disease. Patients in the severe group were further divided into Mycoplasma pneumoniae (MP) alone and Multi-pathogen co-detection groups based on whether other pathogens were detected besides MP, to analyze the influence of respiratory pathogen co-detection rate on the severity of the disease. Mann-Whitney rank sum test and Chi-square test were used to compare data between independent groups. Results:A total of 298 children, 136 males and 162 females, were enrolled in this study, including 204 children in the severe group with an onset age of 7.0 (6.0, 8.0) years, and 94 children in the mild group with an onset age of 6.5 (4.0, 7.8) years. The level of C-reactive protein, D-dimer, lactic dehydrogenase (LDH) were significantly higher (10.0 (5.0, 18.0) vs. 5.0 (5.0, 7.5) mg/L, 0.6 (0.4, 1.1) vs. 0.5 (0.3, 0.6) mg/L, 337 (286, 431) vs. 314 (271, 393) U/L, Z=2.02, 2.50, 3.05, all P<0.05), and the length of hospitalization was significantly longer in the severe group compared with those in mild group (6.0 (6.0, 7.0) vs. 5.0 (4.0, 6.0) d, Z=4.37, P<0.05). The time from onset to admission in severe MPP children was significantly shorter than that in mild MPP children (6.0 (5.0, 9.5) vs. 9.0 (7.0, 13.0) d, Z=2.23, P=0.026). All patients completed the multiplex PCR test, with 142 cases (47.7%) MPP children detected with 21 pathogens including adenovirus 25 cases (8.4%), human coronavirus 23 cases (7.7%), rhinovirus 21 cases (7.0%), Streptococcus pneumoniae 21 cases (7.0%), influenza A virus 18 cases (6.0%). The pathogens with the highest detection rates in Tianjin, Shanghai, Wenzhou and Chengdu were Staphylococcus aureus at 10.7% (8/75), adenovirus at 13.0% (10/77), adenovirus at 15.3% (9/59), and both rhinovirus and Haemophilus influenzae at 11.5% (10/87) each. The multi-pathogen co-detection rate in severe MPP children was significantly higher than that in mild MPP group (52.9% (108/204) vs. 36.2% (34/94), χ2=10.62, P=0.005). Among severe MPP children, there are 89 cases in the multi-pathogen co-detection group and 73 cases in the simple MPP group. The levels of LDH, D-dimer and neutrophil counts in the multi-pathogen co-detection group were significantly higher than those in the simple MPP group (348 (284, 422) vs. 307 (270, 358) U/L, 0.8 (0.5, 1.5) vs. 0.6 (0.4, 1.0) mg/L, 4.99 (3.66, 6.89)×10 9vs. 4.06 (2.91, 5.65)×10 9/L, Z=5.17, 4.99, 6.11, all P<0.05). Conclusions:The co-detection rate of respiratory pathogens, LDH and D-dimer in children with severe MPP were higher than those with mild MPP. Among severe MPP children the stress response of children in co-detection group was more serious than that of children with simple MPP.

Objective:To analyze the clinical characteristics, muscle imaging and pathological features of patients with anti-signal recognition particle positive immune-mediated necrotizing myopathy (SRP-IMNM).Methods:Nine patients with SRP-IMNM were collected in the Neuromuscular Disease Center of Jiaozuo People′s Hospital from May 2018 to May 2023, who were confirmed by skeletal muscle pathology and myositis-specific autoantibodies detection, and their clinical manifestations, muscle imaging and muscle pathology characteristics were systematically summarized.Results:Among the 9 patients with SRP-IMNM, there were 7 females and 2 males. The age of onset ranged from 18 to 59 years. All the patients presented proximal muscle weakness. Seven patients experienced neck weakness, and dysphagia was present in 5 patients. Laboratory examinations showed elevated serum creatine kinase levels in all 9 patients (1 866-6 725 U/L). Eight patients were combined with other antibodies positivity, except for anti-SRP antibody. Among them, 7 patients were combined with anti-Ro-52 antibody positivity, 4 patients combined with anti-Ro-52 antibody positivity alone, and 3 patients combined with 3 or more positive antibodies simultaneously. Those patients who presented with interstitial lung disease and cardiac involvement were all combined with other antibodies positivity. Seven patients completed thigh muscle magnetic resonance imaging (MRI), which showed diffuse skeletal muscle oedema, partial muscle atrophy and fatty replacement, primarily affecting the posterior thigh muscle group. Two patients underwent shank muscle MRI. The soleus involvement was evident, while the tibialis anterior muscle and gastrocnemius muscles were involved in 1 patient. All 9 patients showed varying degrees of scattered muscle fiber necrosis and regeneration on muscle biopsies. In 1 patient, a small amount of inflammatory cell infiltration was observed. Pipestem capillaries were observed in 4 patients. Immunohistochemical staining revealed a small number of CD68-positive lymphocytes in 8 patients. Additionally, 5 patients showed upregulation of major histocompatibility complex Ⅰ expression on the muscle fiber membrane, while 6 patients showed deposition of membrane attack complex (C5b-9) on non-necrotic muscle fibers and capillaries. P62 staining showed homogeneous fine-granular in sarcoplasm in 6 patients.Conclusions:In addition to proximal muscle weakness, patients with SRP-IMNM often experience neck weakness and dysphagia. Those with multiple antibodies are more likely to develop interstitial lung disease and cardiac involvement. SRP-IMNM patients have diffuse oedema in the affected muscles, and the posterior thigh muscles are more prone to atrophy and fatty tissue formation. C5b-9 deposition and pipestem capillaries are significant pathological features of SRP-IMNM, which provide additional evidence for clinical diagnosis.

Objective: To investigate the outbreak of mumps in a remote village school of Zhaoqing City, to evaluate and vaccine effectiveness ( VE ) of mumps containing vaccine (MuCV), so as to provide reference for the formulation of epidemic prevention and control strategies. Methods: Through on site case investigations and interviews, case data and epidemic related epidemiological information were obtained. Descriptive and retrospective cohort studies were used to analyze the epidemic characteristics, explore risk factors, and evaluate the protective effect of vaccines. Results: Totally 166 cases of mumps were found, and all of them were students. The total attack rate was 7.79% and the outbreak lasted for 60 days. The first case occurred on October 11th and the last case occurred on December 9th in 2018. Most of the cases aged from 10 to 13 years old, accounting for 66.27%. There were 96 male patients and 70 female patients, with no statistically significant sex difference in the incidence rate ( χ 2=2.40, P >0.05). Involving 28 classes, 11 of which had an incidence rate more than 10%, mainly distributed in grades 2, 4 and 6. There were statistically significant differences in incidence rates among different grades ( χ 2=96.89, P <0.01) and different floors ( χ 2=67.35, P < 0.01 ), with the third floor higher than the other floors. Twelve out of 58 boarding pupils were cases, and boarding pupils were 1.89 times higher in risk of contracting mumps than day students ( RR=1.89, 95%CI =1.10-3.23). Pupils without being given the shot of MuCV were higher in the infection rate than those having the shot ( χ 2=5.70, P <0.05), and the VE % was 35% (95% CI = 7%- 55%). The VE % of one dose was 34% (4%-54%), while the effectiveness of protection was declined with time ( χ 2 trend =6.53, P < 0.05). The effectiveness of vaccine almost diasappeared six years after the shot ( χ 2=1.12, P >0.05). Conclusion Delayed case report and isolation, low rate of receiving MuCV, and decreasing effectiveness of one shot MuCV are closely assocaited with the outbreak and ongoing spread of the epidemic.

Objective:To investigate the characteristics of obesity in adolescents with major depressive disorder (MDD) and its association with the depressed severity.Methods:A total of 278 adolescents with MDD were recruited according to the inclusion and exclusion criteria. Their demographic data were collected and 24-item Hamilton depression scale (HAMD-24) was used to evaluate their severity of depression. According to the body mass index (BMI) classification standard of adolescents in China, all subjects were classified into four groups(wasting group, normal BMI group, overweight group and obesity group). SPSS 26.0 statistical software was used for data analysis. The Kruskal-Wallis test and the Chi-square test were separately used for the comparison of the four groups.Spearman correlation was used to explore the relationship between BMI and HAMD-24 scores and severity.Results:Among 278 adolescents with MDD, the prevalence of body abnormality was 32.4% (90/278), among which wasting, overweight and obesity were 9.0% (25/278), 14.4% (40/278) and 9.0% (25/278) respectively. There were statistically differences in gender ( χ2=17.018, P<0.001), HAMD-24 scores ( H=9.427, P=0.024) and depressed severity( H=8.508, P=0.037) among the four groups. Multiple comparisons showed that there were only statistically differences between obesity group and normal BMI group, that was the prevalence of obesity in males was higher than that in females ( χ2=13.631, P<0.001), and the level in HAMD-24 scores ( Z=2.956, P=0.003) and depressed severity ( Z=2.832, P=0.005) was lower in obesity group than that in normal BMI group.Spearman correlation analysis showed that BMI was negatively correlated with HAMD-24 scores ( r=-0.162, P=0.007). Conclusion:There is gender difference in obesity rates among the adolescent patients with first-episode untreated MDD. And the obese patients are less depressed than those with normal BMI.

Objective:To summarize the characteristics of clinical, muscle pathology and gene mutation of late-onset reducing body myopathy caused by FHL1 gene mutation, in order to improve clinicians′ understanding of this disorder. Methods:The clinical, muscle pathology and muscle magnetic resonance imaging data of the proband from a family diagnosed as reducing body myopathy in Jiaozuo People′s Hospital in December 2021 were collected. Genetic tests and pedigree verification were conducted on the proband and her son.Results:The proband was a 59-year-old female with progressive, asymmetrical limb weakness and muscular atrophy. Her mother, sister and brother had similar symptoms. Electromyography showed myogenic and neurogenic damage. Muscle magnetic resonance imaging indicated that the lesion mainly involved the posterior muscles of the thigh and calf, as well as the gluteus maximus. The muscle pathology showed eosinophilic granular inclusion bodies and rimmed vacuoles in the muscle fibers of the lesion. The structure of myofibrils was disordered and abnormal protein deposition was observed. The gene sequencing showed the FHL1 gene p.C150S heterozygous variation. Conclusions:Late-onset reducing body myopathy is characterized by progressive asymmetric proximal limb muscle weakness, partially involving distal limb muscles and gluteus maximus. Muscle pathology shows the characteristic pathological changes of many kinds of myofibrillar myopathies. FHL1 gene mutation is an important basis for diagnosis.

Objective:To summarize the clinical, imaging, muscle pathological and gene mutational features of patients with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods:Three patients with late-onset MELAS, admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated of Xinxiang Medical University from January 1997 to December 2021 were chosen; all patients were screened for mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations by second-generation gene sequencing. The clinical, imaging, muscle pathological and gene mutational features of patients with late-onset MELAS were analyzed retrospectively.Results:The main clinical manifestations of these late-onset MELAS patients included stroke-like attacks, headache, hearing and vision loss, cognitive decline and mental disorder. The muscle tension and muscle strength of both upper extremities in these 3 patients were normal. Increased muscle tension and active tendon reflexes, and positive pathological signs in both lower extremities were noted in 2 patients. Head MRI showed abnormal long T1 and long T2 signals in temporal occipital parietal cortex and subcortex in 3 patients, and CT showed calcification in bilateral globus pallidus in 1 patient. Ragged red fibers (RRF) and ragged blue fibers (RBF) were found in the muscle biopsies of 3 patients, and cytochrome oxidase (COX)-negative muscle fibers were found in 2 patients. MT-TL1 gene m.3243A>G mutation was detected in all 3 patients by genetic testing, among which mutation in the blood of 2 patients was 15% and 17%, respectively, and mutation in the muscle tissues of 1 patient was 73%. Conclusion:Muscle pathology indicates high RRF percentage in patients with late-onset MELAS; and m.3243A>G spot mutation is the most common mutation type in late-onset MELAS, and m.3243A>G mutation ratio in muscle tissues is obviously higher than that in blood.