Objective:To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age.Methods:Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum.Results:(1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion:This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

This paper reports a case of multiple myeloma complicated with Primary systemic light chain amyloidosis peripheral neuropathy.Patient was a male,60 years old with subacute onset of peripheral neuropathy.Patient had previous history of hypertension,coronary heart disease and stable angina pectoris.His urine routine examination 2 months ago showed urine protein(+++).The first clinical symptom with peripheral neuropathy characterized by progressive numbness and weakness of both lower limbs.The diagnosis was made after completing electromyography,lumbar puncture,renal puncture,bone puncture and other related examinations,and relevant treatment was given.As a rare disease of nervous system,the incidence rate is low.Early diagnosis is an important step to reduce mortality and improve prognosis.However,the disease is easily misdiagnosed as diabetic peripheral neuropathy and chronic inflammatory demyelinating polyradiculoneuropathy,thereby delaying diagnosis and treatment.

ObjectiveTo observe the effect of twelve-week aerobic exercise on inhibitory control abilities and the change of brain activation in overweight children. MethodsFrom October to December, 2021, 20 overweight children from a primary school in Changping District were selected for a twelve-week aerobic exercise intervention. Their inhibitory control abilities were measured by Flanker task before and after intervention, while their brain activation levels during the task were detected by functional near infrared spectroscopy (fNIRS). ResultsThe interactions between task type and time of accuracy and reaction time in inconsistent tasks Flanker task were significant (F > 9.277, P < 0.05), with higher accuracy and lower reaction time of after intervention (P < 0.05). After intervention, ch1, ch2, ch3, ch6, and ch8 channels were activated by inconsistent tasks (P < 0.05). ConclusionA twelve-week aerobic exercise intervention could improve the inhibitory control ability, and increase the prefrontal cortex activation during inconsistent tasks in overweight children.

Objective:To investigate the correlation between antiplatelet agents and the risk of ruptured intracranial aneurysm.Methods:Patients with intracranial aneurysm admitted to the Department of Neurology, East Hospital Area of Qingdao Municipal Hospital from June to December 2018 were selected retrospectively. The baseline data of patients and the characteristics of intracranial aneurysms were collected. The independent correlation between antiplatelet agents and the risk of ruptured intracranial aneurysm was identified by the univariable analysis and multivariate logistic regression analysis. Results:A total of 90 patients with intracranial aneurysm were included in the study. There were 31 males (34.44%) and 59 females (65.56%). The median diameter of the aneurysm was 4 mm. Forty-six patients taking antiplatelet agents before being diagnosed with intracranial aneurysm, of which 36 taking aspirin, 3 taking clopidogrel, and 7 taking aspirin+ clopidogrel. There were 31 patients (34.44%) with ruptured aneurysm and 59 (65.56%) with unruptured aneurysm. There were statistical differences in the proportion of patients with age <60 years ( P<0.05), diabetes ( P<0.1), ischemic heart disease ( P<0.05), history of previous stroke or transient ischemic attack ( P<0.01), internal carotid artery aneurysm ( P<0.01), anterior communicating artery aneurysm ( P<0.05), posterior communicating artery aneurysm ( P<0.01) and taking antiplatelet agents before diagnosis ( P<0.1) between the ruptured group and the unruptured group. Multivariate logistic regression analysis showed that age <60 years (odds ratio[ OR] 4.116, 95% confidence interval [ CI] 1.337-12.673; P=0.014), anterior communicating artery aneurysm ( OR 5.015, 95% CI 1.155-22.559; P=0.032) and posterior communicating artery aneurysm ( OR 68.796, 95% CI 6.762-699.951; P<0.001) were the independent risk factors for ruptured intracranial aneurysm, and taking antiplatelet agents was an independent protective factor for ruptured intracranial aneurysm ( OR 0.320, 95% CI 0.104-0.992; P=0.048). Conclusions:Taking antiplatelet agents, especially aspirin, does not increase the risk of ruptured intracranial aneurysm, but may be a protective factor of ruptured intracranial aneurysm. Unruptured aneurysms are not contraindications for antiplatelet therapy in patients with clear indications.