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Objective:To investigate the clinical features, imaging features and gene mutation of a paitent with alanyl-transfer ribonucleic acid synthetase 2 (AARS2) gene mutation- related leukodystrophy and further improve the understanding of this rare disease.Methods:Clinical data of a patient with leukodystrophy associated with AARS2 gene mutation diagnosed in October 2020 at Xiamen Hospital of Beijing University of Chinese Medicine and Huashan Hospital of Fudan University were collected.Results:The male patient, 25 years old, was admitted with the clinical manifestations, including chronic onset dyskinesia, ataxia, nystagmus and psoriasis. Head magnetic resonance imaging (MRI) showed bilateral white matter lesions and cerebellar atrophy. Spine MRI showed vertebral body incomplete fusion. Gene detection showed heterozygous compound AARS2 gene mutation [c.985C>T chr6:44275041(p.R329C) and c.452T>C chr6:44279256(p.M151T)].Conclusions:AARS2 gene mutation-related leukodystrophy is a rare mitochondrial disease in clinical practice. The patient presented with progressive motor deficits in the lower limbs, ataxia, relatively retained cognitive function. MRI revealed abnormal symmetry of corpus callosum and bilateral paraventricular white matter. Heterozygous compound AARS2 gene mutations [c.985C>T chr6:44275041 (p.R329C) and c.452T>C chr6:44279256 (p.M151T)] are one of the pathogenic factors leading to hereditary leukodystrophy.
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Objective To compare the clinical efficacies between warm needling and Ibuprofen sustained release capsules (a nonsteroidal anti-inflammatory drug, NSAID) in treating patients with dysmenorrhea in adenomyosis. MethodSixty-five patients with dysmenorrhea induced by adenomyosis were randomized into a treatment group of 33 cases and a control group of 32 cases. The control group was intervened by oral administration of Ibuprofen sustained release capsules, while the treatment group was intervened by warm needling.The intervention lasted 3 menstrual cycles and a 3-month follow-up was studied. The Visual Analogue Scale (VAS), dysmenorrhea symptoms scores and clinical efficacy were compared between the two groups.ResultThe VAS scores after the intervention and inthe first and second months of the follow-up study were significantly different from the pre-treatment score in the two groups (P<0.01); the VAS score of the 3-month follow-up was significantly different from the score before the intervention in the treatment group (P<0.01). There were significant differences in comparing the VAS score after the intervention and in the follow-up study between the two groups (P<0.01), and the treatment group was superior to the control group. The dysmenorrhea symptoms scoresdeclined significantly after the intervention and in the first and second months of the follow-up study in both groups (P<0.01); the dysmenorrhea symptoms score of the 3-month follow-up study decreased in the treatment group and was significantly different from the pre-treatment score (P<0.01). There were significant differences in comparing the dysmenorrhea symptoms scores in the second and third months of the follow-up study between the two groups (P<0.01). The total effective rate was 93.9% in the treatment group, significantly better than 62.5% in the control group (P<0.01).ConclusionWarm needling is effective in easing pain and improving the symptoms of dysmenorrhea in adenomyosis, and can produce a consistent efficacy after the termination of thetreatment; it's superior to NSAIDs in comparing both short-term and long-term treatment efficacies.