Clinical and Genetic Study on 48 Children with Short Stature of Unknown Etiology / 中山大学学报(医学科学版)

ObjectiveTo explore the clinical features and causative genes of short stature children with unknown etiology， providing evidence for precise clinical diagnosis and treatment. MethodsThe study recruited children with suspected but undiagnosed short stature from the pediatric endocrinology department in our hospital between January 2018 and August 2022. A retrospective analysis was performed on the clinical manifestations， laboratory test and whole exome sequencing （WES） results. Causative genes were classified and analyzed according to different pathogenic mechanisms. ResultsA total of 48 children （30 boys and 18 girls） were enrolled， aged 7.73 ± 3.97 years， with a height standard deviation score （ HtSDS） of -3.63 ± 1.67. Of the patients， 33 （68.8%） suffered from facial anomalies， 31 （64.6%） from skeletal abnormalities， 26 ［54.2%， 61.5% of whom born small for gestational age （SGA）］ from perinatal abnormalities， 24 ［50.0%， 87.5% of whom with growth hormone （GH） peak concentration below normal］ from endocrine disorders and 21（43.8%） had a family history of short stature. Laboratory tests showed that GH peak concentration following stimulation test was （9.72 ± 7.25） ng/mL， IGF-1 standard deviation score was -0.82 ± 1.42， the difference between bone age and chronological age was -0.93 ± 1.39 years. Of the 25 cases with mutant genes found by WES， 14 （56.0%） had pathogenic mutation， 6 （24.0%） likely pathogenic mutation， and 5 （20.0%） mutation of uncertain significance. Pathogenic and likely pathogenic variants were identified in 14 genes， including 10 affecting intracellular signaling pathways （PTPN11， RAF1， RIT1， ARID1B， ANKRD11， CSNK2A1， SRCAP， CUL7， SMAD4 and FAM111A） and 4 affecting extracellular matrix （ECM） components or functions （ACAN， FBN1， COL10A1 and COMP）. ConclusionsA rare monogenic disease should be considered as the possible etiology for children with severe short stature accompanied by facial anomalies， disproportionate body types， skeletal abnormalities， SGA， GH peak concentration below normal and a family history of short stature. WES played an important role in identifying the monogenic causes of short stature. This study indicated that affecting growth plate cartilage formation through intracellular signaling pathways and ECM components or functions was the main mechanism of causative genes leading to severe short stature in children. Further research may help discover and study new pathogenic variants and gene functions.

Research progress on association between chronic diseases and herpes zoster / 中华全科医师杂志

Herpes zoster is an infectious skin disease caused by reactivation of the varicella-zoster virus with multiple manifestations and various complication clinically. Studies have confirmed that chronic diseases are one of the independent risk factors for HZ; and the common chronic diseases such as diabetes, cardiovascular disease, chronic obstructive pulmonary disease and rheumatoid arthritis are associated with the development of herpes zoster. In this article, we review the latest research progress on the clinical features of herpes zoster, its correlation with common chronic diseases and the prevention strategies to reduce the disease burden.

A new variant of respiratory syncytial virus glycoprotein gene and clinical features of infected children / 中华微生物学和免疫学杂志

Objective:To analyze the epidemiological features of respiratory syncytial virus (RSV) infection in Beijing, and monitor the sequence variations in RSV glycoprotein (G) gene and clinical features of infected children.Methods:Respiratory tract specimens were collected from children with acute respiratory infection in the Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 1, 2023 to December 31, 2023. RSV-positive specimens screened by multiple nucleic acid testing were subjected to PCR to amplify the full-length RSV G gene. A phylogenetic tree was constructed after gene sequencing to analyze RSV subtypes and trace G gene variants. Clinical data were retrieved from the medical record system to analyze the clinical features of children with RSV infection in Beijing.Results:A total of 5 489 respiratory specimens were collected from 3 046 male patients and 2 443 female patients. The average age of the patients was 4.36 years. A total of 589 RSV-positive specimens (10.7%, 589/5 489) were detected with 349 from male patients and 240 from female patients. The average age of children with RSV infection was (2.51±2.78) years and the median age was 0.48 years. RSV had been circulating among children in Beijing since March 2023 with two epidemic peaks in May (24.6%, 122/496) and December (18.2%, 126/693). The predominant subtype of RSV in the first half of 2023 was subtype A, but it was replaced by subtype B from November 2023. Phylogenetic analysis revealed a novel G gene of RSV subtype B (RSV-B-BA9-954bp) with a length of 954 bp, which belonged to a new cluster in the phylogenetic tree. The percentage of patients admitted to the Intensive Care Unit (ICU) was higher in children with new variant of RSV subtype B infection than in those with common RSV subtype B infection [44.1% (15/34) vs 25.2% (31/123), χ 2=4.600, P=0.032], while the counts of white blood cells and the levels of C-reactive protein were lower in the children with new variant infection ( P<0.05). Conclusions:RSV has been prevalent among children in Beijing since March 2023 with two epidemic peaks. The predominant A subtype is gradually replaced by to B subtype. A new variant of RSV B G gene (RSV-B-BA9-954bp) is detected among the children.

Adult carotid body tumors in Northwest China: a multicenter, retrospective cross-sectional study / 中华神经医学杂志

Objective:To analyze the clinical and epidemiological characteristics of adult carotid body tumors (CBTs) in Northwest China to provide references for early diagnosis and treatment of CBTs.Methods:A multicenter, retrospective, non-intervention epidemiological investigation was conducted on adult CBTs patients who were hospitalized from January 1, 2011 to June 30, 2023 in 7 Class A tertiary hospitals in Northwest China (Departments of Neurosurgery, First Affiliated Hospital of Air Force Medical University, Second Affiliated Hospital of Lanzhou University, People's Hospital of Gansu Province, 940 th Hospital of PLA Joint Logistic Support Force, People's Hospital of Qinghai Province, General Hospital of Ningxia Medical University, People's Hospital of Ningxia Hui Autonomous Region). Medical records were collected in these patients, and they were divided into 2 groups according to their average altitude residence: high altitude group (≥1 500 m) and low altitude group (<1 500 m); meanwhile, these patients were divided into Shamblin type I, type II and type III groups according to Shamblin classification criteria; differences in general data and clinical features among patients from different altitude groups or Shamblin subgroups were compared. Independent influencing factors for Shamblin type III CBTs were analyzed by multivariate ordered Logistic regression. Results:(1) A total of 359 patients were enrolled in the study, including 276 females and 83 males, aged (48.80±12.07) years; 211 patients were into the high altitude group and 148 into the low altitude group; 165 patients were into Shamblin type I group, 146 into Shamblin type II group, and 48 into Shamblin type III group. (2) Compared with those in the low altitude group, patients in the high altitude group had higher proportion of females, older age, lower proportion of Han nationality, higher proportion of Shamblin type I, smaller tumor volume, lower platelet count, higher red blood cell count, hematocrit, hemoglobin level, platelet distribution width and mean platelet volume, and higher large platelet percentage, with significant differences ( P<0.05). (3) Compared with those in the Shamblin type I group, patients in the Shamblin type III group had younger age, lower resident altitude, larger tumor volume, longer time interval from onset to diagnosis, higher proportion of unintentional tumor discovery, larger volume of intraoperative blood loss, lower hemoglobin level, hematocrit, mean erythrocyte volume, and mean hemoglobin concentration, decreased erythrocyte distribution width variable coefficient, and increased platelet count, with significant differences ( P<0.05). Compared with those in the Shamblin type II group, patients in Shamblin type III group had younger age, larger tumor volume, longer time interval from onset to diagnosis, larger volume of intraoperative blood loss, lower hemoglobin, hematocrit and mean erythrocyte volume, higher erythrocyte distribution width variable coefficient and platelet count, with significant differences ( P<0.05). (4) Age ( OR=0.960, 95% CI: 0.942-0.977, P<0.001), residence altitude ( OR=0.992, 95% CI: 0.990-0.999, P=0.020) and time interval from onset to diagnosis ( OR=1.009, 95% CI: 1.005-1.014, P<0.001) were independent influencing factors for Shamblin type III CBTs. Conclusions:More females than males are noted in patients with adult CBTs in Northwest China, and more CBTs patients live at high altitude, with Shamblin type I enjoying the highest proportion. More female and old patients lived at high altitude is noted than those lived at low altitude; patients with Shamblin type III have the youngest age, lowest altitude, and longest time interval from onset to diagnosis. CBTs patients with young age, low residence altitude, and long time interval from onset to diagnosis are more likely to develop Shamblin type III.

Clinical features of severe acute respiratory syndrome coronavirus 2 Omicron variant infection in children: an analysis of 201 cases / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features of children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection.@*METHODS@#A retrospective analysis was performed on the medical data of 201 children with coronavirus disease 2019 (COVID-19) who were hospitalized and diagnosed with SARS-CoV-2 Omicron variant infection in Quanzhou First Hospital from March 14 to April 7, 2022. Among the 201 children, there were 34 children with asymptomatic infection and 167 with symptomatic infection. The two groups were compared in terms of clinical features, results of experimental examinations, and outcome.@*RESULTS@#Of all the 201 children, 161 (80.1%) had a history of exposure to COVID-19 patients and 132 (65.7%) had a history of COVID-19 vaccination. Among the 167 children with symptomatic infections, 151 had mild COVID-19 and 16 had common COVID-19, with no severe infection or death. Among the 101 children who underwent chest CT examination, 16 had ground glass changes and 20 had nodular or linear opacities. The mean time to nucleic acid clearance was (14±4) days for the 201 children with Omicron variant infection, and the symptomatic infection group had a significantly longer time than the asymptomatic infection group [(15±4) days vs (11±4) days, P<0.05]. The group vaccinated with one or two doses of COVID-19 vaccine had a significantly higher positive rate of IgG than the group without vaccination (P<0.05). The proportions of children with increased blood lymphocyte count in the symptomatic infection group was significantly lower than that in the asymptomatic infection group (P<0.05). Compared with the asymptomatic infection group, the symptomatic infection group had significantly higher proportions of children with increased interleukin-6, increased fibrinogen, and increased D-dimer (P<0.05).@*CONCLUSIONS@#Most of the children with Omicron variant infection have clinical symptoms, which are generally mild. The children with symptomatic infection are often accompanied by decreased or normal blood lymphocyte count and increased levels of interleukin-6, fibrinogen, and D-dimer, with a relatively long time to nucleic acid clearance. Some of them had ground glass changes on chest CT.

Clinical features and prognosis of juvenile myelomonocytic leukemia: an analysis of 63 cases / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical features of juvenile myelomonocytic leukemia (JMML) and their association with prognosis.@*METHODS@#Clinical and prognosis data were collected from the children with JMML who were admitted from January 2008 to December 2016, and the influencing factors for prognosis were analyzed.@*RESULTS@#A total of 63 children with JMML were included, with a median age of onset of 25 months and a male/female ratio of 3.2∶1. JMML genetic testing was performed for 54 children, and PTPN11 mutation was the most common mutation and was observed in 23 children (43%), among whom 19 had PTPN11 mutation alone and 4 had compound PTPN11 mutation, followed by NRAS mutation observed in 14 children (26%), among whom 12 had NRAS mutation alone and 2 had compound NRAS mutation. The 5-year overall survival (OS) rate was only 22%±10% in these children with JMML. Of the 63 children, 13 (21%) underwent hematopoietic stem cell transplantation (HSCT). The HSCT group had a significantly higher 5-year OS rate than the non-HSCT group (46%±14% vs 29%±7%, P<0.05). There was no significant difference in the 5-year OS rate between the children without PTPN11 gene mutation and those with PTPN11 gene mutation (30%±14% vs 27%±10%, P>0.05). The Cox proportional-hazards regression model analysis showed that platelet count <40×109/L at diagnosis was an influencing factor for 5-year OS rate in children with JMML (P<0.05).@*CONCLUSIONS@#The PTPN11 gene was the most common mutant gene in JMML. Platelet count at diagnosis is associated with the prognosis in children with JMML. HSCT can improve the prognosis of children with JMML.

Clinical features of children with coronavirus disease 2019 caused by Delta variant infection in different age groups / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features of children with coronavirus disease 2019 (COVID-19) caused by Delta variant infection in different ages groups.@*METHODS@#A total of 45 children with COVID-19 caused by Delta variant infection who were hospitalized in the designated hospital in Henan Province, China, from November 17 to December 17, 2021, were included. They were divided into three groups: <6 years group (n=16), 6-13 years group (n=16), and >13 years group (n=13). The three groups were compared in clinical features and laboratory examination data.@*RESULTS@#COVID-19 in all age groups was mainly mild. Main manifestations included cough and expectoration in the three groups, and fever was only observed in the 6-13 years group. The <6 years group had significantly higher serum levels of aspartate aminotransferase, lactate dehydrogenase, and creatine kinase isoenzymes than the other two groups (P<0.05). The 6-13 years group had the highest proportion of children with elevated serum creatinine levels (50%). Among the three groups, only 4 children in the >13 years group had an increase in serum C-reactive protein levels. The 6-13 years group had the lowest counts of CD3+CD4+ lymphocytes, CD3+CD8+ lymphocytes, and natural killer cells in the peripheral blood among the three groups. The >13 years group had a significantly higher positive rate of SARS-CoV-2 IgG on admission than the other two groups (P<0.05). There was no significant difference in the imaging findings on chest CT among the three groups (P>0.05).@*CONCLUSIONS@#The clinical features of COVID-19 caused by Delta variant infection in children of different age groups may be different: children aged <6 years tend to develop myocardial injury, and those aged 6-13 years have fever except cough and expectoration and tend to develop renal and immune dysfunction.

Analysis of clinical characteristics and warning factors in SARS-CoV-2 variants infection / 中国热带医学

@#Abstract: Objective To investigate the influence of the variation of SARS-CoV-2 on the clinical feature, and to provide early warning signs for the variation of SARS-CoV-2 in clinical work. Methods From Jan 2, 2021 to Jun 30, 2021, a total of 105 COVID-19 patients were included in the study using a case-control method. Nasal swab samples were collected from the study subjects, the viral genes were sequenced, and patients were divided into Delta variant group and non-Delta variant group according to their gene sequences. Clinically relevant data were collected from the two groups, and indicators such as days of hospitalization, age distribution, lymphocytes, neutrophils, B lymphocytes, NK cells, IL-4, and IL-10 were compared; subgroup analysis was performed based on the number of days of viral negativity in the study subjects as the basis for grouping, and differences in immunological characteristics were compared, including lymphocytes, neutrophils, B lymphocytes, NK cells, IL-4, IL-10, etc. Results The theoretical hospitalization days of Delta variant group were (22.2±8.33) d, which were significantly longer than (17.6±10.50) d of non-Delta variant group (t=2.396, P<0.05). The total lymphocyte count and IL-4 of Delta variant group were (1.22±0.86) ×109/L and (0.80±0.23) ng/mL, which were significantly lower than corresponding (1.91±0.70) ×109/L and (1.59±0.59) ng/mL of non-Delta variant group (t=4.329, 9.072, P<0.05), while IL-10 was (7.16±7.77) ng/mL, which was significantly higher than (4.26±3.91) ng/mL of non-Delta mutation group (t=1.980, P<0.05). Subgroup analysis showed that the total lymphocyte count and IL-4 concentration in Delta variant group were (1.04±0.60) ×109/L and (0.74±0.25) ng/ml, which were significantly lower than corresponding (1.62±0.56) ×109/L and (1.56±0.52) ng/mL in non-Delta variant group, in patients with delayed discharge (P<0.05). Conclutions SARS-CoV-2 variant has an impact on clinical manifestations. The patient's B cell count and IL-10 concentration increased or IL-2 and IL-4 concentration decreased within 12 hours of admission indicated variant virus infection. The decrease of total lymphocyte count, especially T lymphocyte reduction, strongly suggests discharge delay due to viral clearance disorder.

Advances in clinical diagnosis and treatment of drug-induced liver injury in children / 中华肝脏病杂志

Drug-induced liver injury (DILI) is one of the most common adverse drug reactions that may seriously threaten the health of children and is receiving increasing clinical attention day by day. There is still no independent diagnosis and treatment guideline for DILI in children, but its clinical features are not completely similar to those in adults. This article reviews the epidemiology, clinical features, diagnosis, and treatment progress in order to provide a reference for the management of DILI in children.

Clinical features and treatment status of adolescent patients with bipolar disorder / 四川精神卫生

BackgroundGender and age differences in the clinical manifestations of patients with bipolar disorder can affect the clinical diagnosis and treatment process. The current treatment effect of bipolar disorder in adolescents is not ideal， which has become the main reason for disability during the learning period. ObjectiveTo analyze the clinical features and medication therapy status of bipolar disorder in adolescents， and to provide references to support for personalized diagnosis and treatment. MethodsOn January 16， 2023， 1 169 patients with bipolar disorder who were hospitalized at Beijing Anding Hospital Affiliated Capital Medical University from January 1， 2014 to December 31， 2017 were retrospectively enrolled. Medical records were collected and analyzed to compare the clinical features among patients of different gender and age groups， and to explore the differences in medication use among patients of different genders in different types of seizures. ResultsMale patients reported a larger proportion of manic episodes， and a smaller proportion of depressive episodes than female patients （P<0.05）.Female patients reported a larger proportion of non-suicidal self-harm behaviors than male patients （χ2=7.761， P<0.01）.And patients in low-age group featured a larger proportion of mixed seizures， impulsive behaviors and family history of bipolar disorders along with a smaller proportion of manic episodes than those in high-age group （P<0.05 or 0.01）. High-age group had a longer average length of hospital stay than low-age group （t=-2.930， P<0.01）. In manic episode patients， males were found to have a larger proportion of valproate and atypical antipsychotic drug administration than females （P<0.01）. Among atypical antipsychotic drugs， males accounted for a larger proportion of administration of risperidone and olanzapine （χ2=26.957） than females （P<0.05 or 0.01）， while females constituted a larger proportion of administration of quetiapine （χ2=14.865） and aripiprazole than males （P<0.01）. In depressive episode patients， females had a larger proportion of administration of olanzapine than males （P<0.01）. In patients with mixed seizures， females occupied a larger proportion of administration of lithium carbonate than males （χ2=9.253， P<0.01）， and males exhibited a larger proportion of administration of valproate than females （P<0.05）. ConclusionDifferences have been shown in diagnostic classification and concomitant symptoms among adolescent bipolar disorder of different genders and ages. Furthermore， medications of lithium carbonate， valproate， atypical antipsychotic and other drugs differ by gender among adolescents of different subtypes of bipolar disorder. ［Funded by Key Special Project of the National Key R&D Program of the Ministry of Science and Technology for "Major Chronic Non communicable Disease Prevention and Control Research" （number， 2017YFC1311101）］

Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Clinical features of Kawasaki disease complicated by macrophage activation syndrome: an analysis of 27 cases / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical manifestations and laboratory examination results of children with Kawasaki disease complicated by macrophage activation syndrome (KD-MAS), and to provide a basis for identifying early warning indicators for the early diagnosis and treatment of KD-MAS.@*METHODS@#A retrospective study was performed on 27 children with KD-MAS (KD-MAS group) and 110 children with KD (KD group) who were admitted to Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2014 to January 2022. Clinical and laboratory data were compared between the two groups. The receiver operating characteristic (ROC) curve was used to investigate the value of laboratory markers with statistical significance in the diagnosis of KD-MAS.@*RESULTS@#Compared with the KD group, the KD-MAS group had significantly higher incidence rates of hepatomegaly, splenomegaly, incomplete KD, no response to intravenous immunoglobulin, coronary artery damage, multiple organ damage, and KD recurrence, as well as a significantly longer length of hospital stay (P<0.05). Compared with the KD group, the KD-MAS group had significantly lower levels of white blood cell count, absolute neutrophil count, hemoglobin, platelet count (PLT), erythrocyte sedimentation rate, serum albumin, serum sodium, prealbumin, and fibrinogen (FIB), a significantly lower incidence rate of non-exudative conjunctiva, and significantly higher levels of C-reactive protein, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase (LDH), and serum ferritin (SF) (P<0.05). The ROC curve analysis showed that SF, PLT, FIB, and LDH had high value in the diagnosis of KD-MAS, with areas under the curve (AUC) of 0.989, 0.966, 0.932, and 0.897, respectively (P<0.001), and optimal cut-off values of 349.95 μg/L, 159×109/L, 3.85 g/L, and 403.50 U/L, respectively. The combination of SF, PLT, FIB, and LDH had a larger AUC than PLT, FIB, and LDH alone in the diagnosis of KD-MAS (P<0.05), but there was no significant difference in the AUC between the combination of SF, PLT, FIB, and LDH and SF alone (P>0.05).@*CONCLUSIONS@#KD-MAS should be considered when children with KD have hepatosplenomegaly, no response to intravenous immunoglobulin, coronary artery damage, and KD recurrence during treatment. SF, PLT, FIB, and LDH are of high value in the diagnosis of KD-MAS, especially SF is of great significance in the diagnosis of KD-MAS.

Clinical features of children with coronavirus disease 2019 in different age groups during the epidemic of Omicron variant / 中国当代儿科杂志

OBJECTIVES@#To study the differences in the clinical features of children with coronavirus disease 2019 (COVID-19) in different age groups during the epidemic of Omicron variant.@*METHODS@#A retrospective analysis was performed on the clinical data of 211 children with COVID-19 who were admitted to the Department of General Pediatrics, Zhongshan People's Hospital, from December 9, 2022 to January 8, 2023. According to their age, they were divided into 4 groups: 1 month-<1 year (n=84), 1-<3 years group (n=64), 3-<5 years (n=29), and ≥5 years (n=34). The above groups were compared in terms of general status, clinical features, ancillary examination results, treatment, and outcome.@*RESULTS@#The children aged <3 years accounted for 70.1% (148/211) of all hospitalized children with COVID-19, and the 3-<5 years group and the ≥5 years group had a significantly higher proportion of children with underlying diseases than the 1 month-<1 year group and the 1-<3 years group (P<0.05). Compared with the other three groups, the 1 month-<1 year group had significantly higher incidence rates of dyspnea, nasal congestion/nasal discharge, diarrhea and significantly lower incidence rates of convulsion and nervous system involvement (P<0.05). Moreover, compared with the other three groups, the 1 month-<1 year group had significantly higher incidence rates of increases in bile acid and creatine kinase isoenzyme and significantly lower incidence rates of decreased platelet count, increased neutrophil percentage, and decreased lymphocyte percentage (P<0.05). The 1 month-<1 year group had a significantly higher incidence rate of mild COVID-19 than the 1-<3 years group and a significantly lower incidence rate of severe/critical COVID-19 than the other three groups (P<0.05). Compared with the other three groups, the 1 month-<1 year group had a significantly higher proportion of children receiving oxygen inhalation therapy (P<0.05).@*CONCLUSIONS@#Children with COVID-19 in different age groups have different clinical features during the epidemic of Omicron variant, especially between the children aged 1 month to <1 year and those aged ≥1 year.

Expressions and Clinical Significance of Notch1 and Hes1 in Diffuse Large B-Cell Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To investigate the expressions of Notch1 and Hes1 in diffuse large B-cell lymphoma (DLBCL), and their correlations with clinical features.@*METHODS@#Immunohistochemistry (IHC) was performed on DLBCL samples (54 cases) and lymphadenitis tissues (20 cases) to evaluate the expressions of Notch1 and Hes1, and analyze their correlations with clinical characteristics of patients. Based on Oncomine database, the expressions of Notch1 and Hes1 mRNA and DNA were also explored.@*RESULTS@#IHC result showed that the positive expression rates of Notch1 and Hes1 in DLBCL patients were significantly higher than those in the control group (P <0.05). In DLBCL patients, the expression of Notch1 was closely associated with B symptoms, Ann Arbor stage, lymphocyte count and the level of lactate dehydrogenase (P <0.05), while the expression level of Hes1 was significantly higher in patients with B symptoms (P <0.05). Notch+/Hes1+ expression was found in 21 DLBCL tissues (38.9%), and there was a correlation between Notch1 and Hes1 expression (r =0.296, P <0.05). Bioinformatics analysis (Oncomine database) showed that the mRNA expressions of Notch1 and Hes1 in the Brune dataset were significantly higher than those in the control tissues (P <0.05).@*CONCLUSION@#The expressions of Notch1 and Hes1 in DLBCL are significantly higher than those in lymphadenitis, and correlated with B symptoms and Ann Arbor stage, suggesting that Notch1 and Hes1 play important roles in the occurrence and development of DLBCL.

Research progress on epilepsy in the plateau area / 中国神经精神疾病杂志

Epilepsy is a chronic neurological disease and a common disease in neurology.The epidemiologic characters,clinical characteristics and risk factors of epilepsy vary from region to region.Although there are relatively few studies on epilepsy in the plateau,current studies show that its morbidity and prevalence are higher than those in other regions.There is a large gap in epilepsy treatment in the plateau area,and the quality of life of patients is poor.Among them,cerebrovascular diseases,cerebral parasitic diseases and craniocerebral trauma are common causes of epilepsy in the plateau area.This paper summarizes the epidemiologic characteristics,clinical characteristics,risk factors,etiology,comorbidities and other related studies of epilepsy in plateau areas,aiming to offer valuable reference for the diagnosis and treatment of epilepsy patients in plateau areas.

Risk factors for fatigue impairment in patients with multiple system atrophy / 中风与神经疾病杂志

@#Objective To investigate the risk factors for fatigue impairment in patients with multiple system atrophy （MSA）. Methods A total of 101 patients with MSA were enrolled，and according to the score of Fatigue Severity Scale （FSS），they were divided into non-fatigue group （<4 points） with 41 patients and fatigue group （≥4 points） with 60 patients. A binary logistic regression analysis was used to screen for the risk factors for fatigue in patients with MSA. Results There were significant differences in sex，course of disease，clinical classification，urinary retention，UMSARS-I，UMSARS-II，UMSARS-I+II，UMSARS-IV，bradykinesia，myotonia，ataxia，abnormal gait and posture，and ESS score between the patients with different between fatigue levels （P<0.05）. The binary logistic regression analysis showed that UMSARS-I and ESS scores were independent risk factors for fatigue in MSA patients （P<0.05）. Conclusion Fatigue impairment in patients with MSA is caused by multiple factors，among which UMSARS-I and ESS scores are independent risk factors for fatigue in MSA.

Hepatolenticular degeneration complicated by hepatic myelopathy： a clinical analysis of 5 cases and literature review / 中风与神经疾病杂志

@#Objective To analyze the clinical features of patients with hepatolenticular degeneration （HLD） complicated by hepatic myelopathy （HM）. Methods A retrospective analysis was performed on the clinical features，auxiliary examinations，diagnosis and treatment，and outcomes of 5 patients diagnosed with HLD complicated by HM in our hospital from January 2018 to February 2023，and the relevant literature was reviewed. Results Among the 5 patients，4 were male and 1 was female； the age of onset of HM ranged from 16 to 32 years. All 5 patients had manifestations of decompensated cirrhosis，and 3 patients had a history of transjugular intrahepatic portosystemic shunt （TIPS）. The spinal MRI showed abnormal signals in the thoracic cord in 2 patients. Electromyography showed abnormalities in 3 patients，and electroencephalography showed significantly slower background brain waves in 4 patients. Two patients underwent liver transplantation，and 2 patients received endovascular treatment. One patient died of upper gastrointestinal bleeding； the other 4 patients had varying degrees of recovery. Conclusion The prevalence of HLD complicated by HM is very low. High copper status，hyperammonemia，TIPS，anemia，hypoproteinemia，and portal hypertension are directly associated with HM.

The advances of streptococcus pneumoniae-associated hemolytic uremic syndrome / 国际儿科学杂志

Streptococcus pneumoniae-associated hemolytic uremic syndrome(SP-HUS) is a thrombotic microvascular disease caused by streptococcus pneumoniae infection, which is one of the causes renal failure in children.Clinical manifestations include thrombocytopenia, hemolytic anemia and acute renal failure.The neuraminidase and surface protein C substance of Streptococcus pneumoniae, immune factors and complement play important roles in the pathogenesis of SP-HUS.The complement inhibitors provides a new solution for the treatment of SP-HUS.However, few SP-HUS cases have been reported in China.This paper reviews the pathogenesis, clinical manifestations and treatment of SP-HUS to help clinicians better understand the disease, early recognition and intervention treatment.

Research progress of ADPRHL2 gene related stress-induced childhood-onset neurodegeneration with variable ataxia and seizures / 中华实用儿科临床杂志

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures caused by ADPRHL2 gene mutation is a recently diagnosed hereditary neurodegenerative disease, featured by a small number of reported cases, early age of onset, and high mortality.Therefore, to attract the attention of clinicians, the research progress of ADPRHL2 gene, its protein structure and function, as well as the hereditary mode, pathogenic mechanism, clinical features, and treatment prognosis of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures were reviewed in this paper.

Factors associated with poor short-term pharmacotherapy response in self-limited epilepsy with centrotemporal spikes / 中华实用儿科临床杂志

Objective:To explore risk factors for clinical onset in children with uncontrolled self-limited epilepsy with centrotemporal spikes (SeLECTS) managed by 2 anti-seizure medications (ASMs).Methods:A total of 112 children with SeLECTS who were diagnosed at the Department of Pediatric Neurology of the Third Affiliated Hospital of Zhengzhou University from January 2018 to May 2021 were retrospectively reviewed.All of them were treated with conventional ASMs, and regularly followed up for 1-2 years.Types of therapeutic drugs, clinical seizure control status, presence of new seizure forms, electroencephalogram (EEG) were reviewed at follow-up visits.According to whether the seizures were controlled after the use of no more than 2 ASMs, patients were divided into poor response group (43 cases) and good response group (69 cases), and their clinical data and EEG characteristics were compared.Multivariate Logistic regression analysis was used to explore the risk factors for seizures that were uncontrolled by 2 ASMs. Results:There were significant differences in the age of onset ( χ2=8.919, P=0.003), seizure form ( χ2=4.218, P=0.040), seizure frequency ( Z=-7.664, P<0.001), EEG background slowing ( χ2=10.284, P=0.001), emergence of electrical status epilepticus during slow-wave sleep (ESES)( χ2=11.921, P=0.001), discharge generalization ( χ2=25.377, P<0.001), and presence of epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS)( χ2=54.334, P<0.001) between groups.Multivariate Logistic regression analysis showed that seizure frequency ( P<0.001, OR=0.086, 95% CI: 0.022-0.329), discharge generalization ( P=0.006, OR=9.942, 95% CI: 1.918-51.527) and EEG background slowing ( P=0.041, OR=6.648, 95% CI: 1.077-41.038) were the 3 main risk factors associated with poor response to short-term medications of ASMs. Conclusions:Seizures are easily controlled in most SeLECTS patients medicated with ASMs with a favorable prognosis.Seizure frequency, discharge generalization and EEG background slowing are risk factors for the poor response to short-term pharmacotherapy in children with SeLECTS.