OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

Objective Discuss the effect of the Rhythmic auditory stimulation with treadmill training on freezing of gait in patients with parkinson's disease.Method 68 patients with parkinson's disease randomly divided into 2 groups.The control group uses conventional drug treatment in parkinson's disease patients according to the condition of patients.The comprehensive training group using body weight support treadmill training combined with rhythmic stimulation training for 8 weeks.The two group subjects were proceeded gait tests by freezing of gait questionnaire 、functional independence measure、five time sit to stand test、timed up and go test、berg balance Scale eight weeks after training.Result The comprehensive training group had a significant difference compared with the control group (P ＜ 0.01)in decreased freezing of gait questionnaire score,decreased functional independence measure score,decreased five time sit to stand test times,decreased timed up and go test score,increased berg balance Scale score.Conclusion Rhythmic auditory stimulation with treadmill training can improve freezing of gait function of patients with parkinson's disease.

BACKGROUNDOveractive bladder (OAB) is a series of symptoms with high prevalence in elderly people. This study was conducted using the overactive bladder symptom score (OABSS) to evaluate the efficacy of solifenacin succinate for the treatment of OAB.

METHODSThis was a prospective, multicenter, single-arm, 12-week study that enrolled 241 OAB patients. The patients received 5-10 mg/day solifenacin. Changes in OABSS, symptoms from voiding diary, perception of bladder condition (PPBC) score, international prostate symptom score (IPSS) and quality of life (QOL) were evaluated at weeks 0, 4, and 12. The relationship between OABSS and PPBC score or parameters of voiding diary was also evaluated.

RESULTSAt baseline, the mean OABSS for all patients was 9.41 ± 2.40, and was reduced significantly at week 12 (-3.76 points; 61.21%, P < 0.0001). The OABSS subscore, PPBC score, IPSS, and QOL were also significantly reduced during the study (P < 0.0001). The overall incidence of adverse events was 19.91% (44 cases). The gastrointestinal system was the most commonly affected (11.31%). Around 5.88% of the cases had adverse events related to the genitourinary system. There was a strong correlation between OABSS and urinary symptoms that was recorded in the 3-day voiding dairy.

CONCLUSIONSWe showed that solifenacin was clinically effective for relieving OAB symptoms, considering the balance between efficacy, patients' well-being, and tolerability. OABSS integrates four OAB symptoms into a single score and can be a useful tool for research and clinical practice.

Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Muscarinic Antagonists ; therapeutic use ; Prospective Studies ; Quality of Life ; Quinuclidines ; therapeutic use ; Solifenacin Succinate ; Tetrahydroisoquinolines ; therapeutic use ; Treatment Outcome ; Urinary Bladder, Overactive ; drug therapy

BACKGROUND: There was no uniform criterion for muscle force sense test of the sagittal plane of the ankle joint.OBJECTIVE: To explore the test-retest reliability of the ankle muscle force sense (MFS) under different target force.METHODS: The target force of the muscle was 25%, 50% and 75% maximal voluntary isometric contraction to measure MFS.Consistency degree of the repeated measures was evaluated by intra-class correlation (ICC) and standard error of measurement(SEM).RESULTS AND CONCLUSION: Interclass correlation coefficients of variable errors and absolute errors in MFS were more than0.75, and SEM of them were lower. ICCs of constant error of them were less than 0.75, and SEMs of them were greater. Thetest-retest reliability for variable errors and absolute errors of MFS was better when the target force was smaller.

In order to synthetically train students to do scientific researches independently,inspire their enthusiasm and go-aheadism about study,and improve the quality of experimental teaching,we have been exploring to update experimental content and reform experimental system for many years,and have commenced a number of "Series Experiments".The setup of"Series Experiments" which means several separate experiments are organized together by their internal relations has already showed us a favorable effect.

The femur of chicken embryo in experimental fluorosis was observed under light and electron microscope, and studied by bone histomorphometric method. The results showed that most of osteoblasts were cuboid and crowded together on the surface of bone trabecula in experimental group. The osteoid was increased and mineralized bone was diminished. The bone reformation indexes were higher significantly and the bone resorption indexes did not show differences between the two groups. The cross striations of type Ⅰ collagen fibrils in osteoid layers of experimental group were indistinct and bone lamella were jumble array. Our results suggest that though fluoride has a stimulating action on the embryonic osteoblasts and enhanced the bone formation, the osteoblasts produced abnormal collagen fibrils which caused disorder of osteoid mineralization and led to osteomalacia.