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Objective:To summarize the clinical features and gene variations in children with Townes-Brocks syndrome (TBS).Methods:The clinical data of a female infant diagnosed with TBS caused by human spalt-like transcription factor 1 ( SALL1) gene mutation in Gansu Maternal and Child Health Hospital in May 2022 were analyzed retrospectively. Relevant articles up to July 2022 were retrieved from several databases including CNKI, VIP, Wanfang, Chinese Medical Journal Network and PubMed with the terms of " SALL1 gene" and "Townes-Brocks syndrome". Patients diagnosed with TBS caused by SALL1 gene mutation were retrieved and the clinical phenotype-genotype correlations in patients with TBS caused by frameshift mutation in SALL1 gene were analyzed and summarized. Descriptive statistical analysis was applied. Results:(1) Clinical data: The index patient was a 40-day-old girl exhibiting major clinical manifestations of polycystic kidney dysplasia, congenital external ear deformity, preaxial polydactyly and recto-perineal fistula. Whole exome sequencing and Sanger sequencing revealed a heterozygous variation of c.420delC (p.S141fs*42) in the SALL1 gene, while the same gene was found to be wild type in her parents and sister. The variant was predicted to be pathogenic (PVS1+PS2+PM2). (2) Literature review retrieved 161 cases of TBS, of which 71 were attributable to a frameshift mutation in SALL1 gene. Clinical phenotypes of the 71 cases and the index case were summarized. TBS was mainly characterized by external ear, hand and anal deformities, sometimes accompanied by hearing loss, abnormal kidney development and foot deformity. A small number of affected cases presented with rare clinical phenotypes such as abnormal eyes, hypothyroidism and abnormal development. At present, the human gene mutation database records 110 variations in the SALL1 gene, with a majority located in exon 2. The most common mutation type was frameshift variation, accounting for 52%, followed by missense variation and nonsense variation. Conclusion:TBS should be considered in children with ear, hand and anal malformations, accompanied by renal dysfunction and hearing loss, and genetic testing is recommended for timely diagnosis.
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Objective:To explore any correlation between knee muscle strength and walking ability after an incomplete lumbar spinal cord injury and the factors influencing walking ability.Methods:Twenty-seven persons with an incomplete lumbar spinal cord injury were tested. Their bilateral quadriceps and hamstring muscle strength and peak torque during knee extension and flexion were assessed. They completed the 10m walking time test (10MWT) and each person′s WWISCI II spinal cord injury walking index was evaluated. Spearman correlations among the data were computed and stepwise regression was used to analyze the factors significantly influencing the 10MWT and WISCI II results.Results:The average hamstring strength was significantly negatively correlated with the 10MWT times and WISCI II ratings. Hamstring torque also was negatively correlated with the 10MWT times, but positively correlated with the WISCI II ratings. The 10MWT times and WISCI II ratings were significantly inter-correlated. Hamstring strength was the best predictor of 10MWT times (accounting for 63% of the variance) and WISCI II ratings (64%), but quadriceps strength was also a secondary predictor.Conclusions:Knee muscle strength is a useful predictor of 10MWT times and WISCI II ratings after incomplete lumbar spinal cord injury. It can predict early walking ability to some extent.
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Objective To explore the effects of isokinetic training on muscle endurance and the ambulatory capacity of patients with incomplete lumbar spinal cord injury ( SCI ) . Methods Sixty patients were randomly divided into a control group and a treatment group, each of 30. Both groups were given conventional rehabilitation, while the treatment group was additionally provided with isokinetic muscle strength and muscle endurance training for 3 months. The endurance ratio ( RO) of the quadriceps and hamstrings, the mean power frequency of the rectus femo-ris (RF-MPF) and the biceps flexor cruris (BF-MPF), and distance covered in the 6-minute walk test (6MWT) were evaluated before and after the treatment. An index of functional community ambulation was also compared be-tween the 2 groups. Results After the treatment significant differences were observed in all of the measurements compared to before the treatment for both groups. The average RO improvement of the quadriceps and hamstrings, the BF-MPF, the RF-MPF and the 6MWT distance of the treatment group were all significantly higher compared with the control group. After the treatment, 25 patients of the treatment group could demonstrate functional community ambula-tion, significantly better than that of 20 of the control group. Conclusion Isokinetic training can improve muscle endurance and the walking capacity of persons with an incomplete lumbar spinal cord injury.