A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T>A (p.Tyr1020*) in exon 2 of the SALL1 gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense-mediated mRNA decay. This variant c.3060T > A is located at the terminal end of exon 2, proximal to the 3' end of the SALL1 gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial SALL1 function.

The efficacy of acupuncture combined with other therapies in post stroke cognitive impairment: A network meta-analysis.

BACKGROUND: The network meta-analysis was used to evaluate the efficacy of acupuncture combined with other therapies in the treatment of post stroke cognitive impairment (PSCI). METHODS: The China National Knowledge Infrastructure, Wanfang DATA, Vip Chinese Periodic Service Platform, PUBMED, Cochrane Library, Web of Science, and Embase were searched for randomized controlled trials (RCTs) published before March 18, 2023. Two researchers independently reviewed articles and extracted data, and then qualified papers were included in the study. STATA 14.0 was used for network meta-analysis. RESULTS: A total of 29 articles including 2241 patients were included in this study. The treatment of the intervention group includes acupuncture combined with traditional Chinese medicine prescriptions (TCMP), acupuncture combined with hyperbaric oxygen (HBO), acupuncture combined with repetitive transcranial magnetic stimulation (rTMS), acupuncture combined with cognitive rehabilitation (CR), acupuncture combined with donepezil. The intervention of the control group includes acupuncture, HBO, rTMS, CR, TCMP, and donepezil. In terms of improving the score of Minimum Mental State Examination (MMSE), acupuncture combined with TCMP was most likely to be the best treatment (P < .05). In terms of improving the score of Montreal Cognitive Assessment (MoCA), acupuncture combined with TCMP was most likely to be the best treatment (P < .05). In terms of improving the total effective rate of clinical treatment, acupuncture combined with rTMS was most likely to be the best treatment (P < .05). CONCLUSION: Acupuncture combined with TCMP may be the best treatment method among all of the above treatments for PSCI.

The Efficacy of Tai Chi and Stretching Exercises Based on a Smartphone Application for Patients With Parkinson's Disease: A Protocol for a Randomized Controlled Trial.

Introduction: Parkinson's disease (PD) is a common neurodegenerative disease that seriously impairs patients' quality of life, and increases the burden of patients and caregivers. Both drugs and exercise can alleviate its motor and non-motor symptoms, improving the quality of life for PD patients. Telehealth, an increasingly popular tool, makes rehabilitation accessible at home, overcoming the inconvenience of traffic and scheduling. Care-PD is a phone application designed for rehabilitation training, which provides Tai Chi and stretching exercises through tutorial videos as well as an online evaluation system. In this protocol, we will explore the efficacy of Tai Chi and stretching exercises as a PD rehabilitation therapy based on the smartphone application Care-PD. Methods and Analysis: A double-blind, parallel randomized controlled trial will be conducted in this study. The recruitment, intervention, and evaluation processes will be implemented through the Care-PD application. Persons with PD will fill out questionnaires on Activities of Daily Living (ADL), upload the latest case report, and sign the informed consent form in the application. Afterward, doctors and researchers will screen and enroll 180 participants who will be randomly (1:1:1) assigned to Tai Chi group, stretching exercises group, or control group. The subjects will participate in a 1-h exercise session three times per week for 12 weeks, ending with another 4 weeks of follow-up study. Each exercise session includes 10 min of warm-up, 45 min of exercise, and 5 min of cool-down. The primary outcomes are Motor Aspects of Experiences of Daily Living and the 39-item Parkinson's disease Questionnaire. The secondary outcomes include the 9-item Wearing-Off Questionnaire, the Freezing of Gait Questionnaire, the Caregiver Strain Index, Non-motor Experiences of Daily Living, ADL, and Morse Fall Scale. All assessments will be performed at baseline, week 12 and 16. Discussion: Care-PD integrates subject recruitment, intervention, and evaluation, providing a new perspective on clinical rehabilitation for persons with PD. This study will evaluate the efficacy of Tai Chi and stretching exercises on patients' quality of life and disease progression based on a smartphone application. We aim to provide a new rehabilitation training platform for persons with PD. Ethics and Dissemination: This study was approved by the Scientific Research Ethics Committee (102772020RT132) of Shanghai University of Sport. Data collection begins after the approval of the ethics committee. The participants must sign an informed consent form before enrollment. The results will be published in relevant journals, seminars, and be disseminated among rehabilitation practitioners and patients with PD. Clinical Trial Registration: Chinese Clinical Trial Registry, identifier [ChiCTR2100042096]. Registered on January 13, 2021.