OBJECTIVE: To investigate the clinical characteristics and genetic etiology in a fetus with 12q14 microdeletion syndrome. METHODS: A fetus diagnosed with 12q14 microdeletion syndrome at Wenzhou People's Hospital in July 2019 was selected as the study subject. The fetus was from a twin pregnancy by in vitro fertilization-embryo transfer, with ultrasound findings including growth restriction, cleft lip/palate, ventricular septal defect, tricuspid regurgitation, and pericardial effusion. Clinical data and family history were collected. Amniotic fluid sample was collected from both twins, and peripheral blood samples were obtained from their parents. Amniocytic karyotyping analysis and chromosomal microarray analysis (CMA) were performed, and familial validation was conducted. This study was approved by the Medical Ethics Committee of Wenzhou People's Hospital (Ethics No.: KY-202408-034). RESULTS: Prenatal ultrasound showed no significant abnormality in one of the twins, whilst the other twin exhibited severe growth restriction accompanied by cleft lip/palate, ventricular septal defect, tricuspid regurgitation, and pericardial effusion. Karyotyping and CMA analyses of first twin showed no abnormalities, whilst the second twin had a chromosomal karyotype of 46,XN,t(3;12)(q26.3;q14), and CMA revealed a 4.9 Mb deletion in the 12q14.3-q15 region (arr[hg19]12q14.3q15(65,574,059_70,488,106)x1). Karyotyping and CMA analyses of both parents revealed no abnormalities, confirming that the fetus deletion was de novo in origin. Literature review suggested that prenatal diagnosis of 12q14 microdeletion syndrome has been extremely rare. CONCLUSION The fetus was diagnosed with 12q14 microdeletion syndrome. This de novo deletion may have dervied from chromosomal translocation. As a first-tier prenatal diagnostic technique, CMA can effectively detect microdeletion/microduplications missed by conventional karyotyping analysis.
Humans ; Female ; Pregnancy ; Chromosome Deletion ; Chromosomes, Human, Pair 12/genetics* ; Karyotyping ; Adult ; Prenatal Diagnosis ; Chromosome Disorders/diagnosis* ; Ultrasonography, Prenatal ; Fetus ; Male

Objective To detect the therapeutic effectiveness of electro-acupuncture combined with Leitoufenggranules for primary trigeminal neuralgia.MethodsA total of 60 patients with PTN were randomly divided into the control group and the treatment group (30 in each group). Control group received Carbamazepine, and the treatment group received the electro-acupuncture combined withLeitoufeng granules. Both groups were treated for 15 days as a period of treatment with 3 treatments in total. The outcomes were S hort form of the McGill Pain Questionnaire (SF-MPQ), painratingindex (PRI), the number of word feature (NWC), the present painindex (PPI), the Visual Analogue Scale (VAS) the clinical effect rate and recurrence rate. Results After treatment, compared with the control group, the effect rate (96.67%vs. 70.00%,χ2=5.880,) in the treatment group showed significantly higher (P=0.015). Compared with the control group, PRI (0.20 ± 0.47 vs. 3.33 ± 4.65,t=3.592), NWC (0.20 ± 0.48vs. 1.40 ± 1.87,t=3.345), VAS (0.20 ± 0.48vs. 1.27 ± 1.66, t=3.321), PPI (0.17 ± 0.38vs.0.90 ± 0.99,t=3.771) and the total score (0.79 ± 1.83vs. 6.90 ± 9.05,t=3.602) in the treatment group were significantly lower (P<0.01). In the follow-up of 3 months, compared with control group, the recurrence rate (10.0%vs.56.6%,χ2=12.675) in the treatment group significantly lower (P<0.01). Conclusion As to the treatment of primary trigeminal neuralgia, the effect of acupuncture combined with Leitoufeng granules was superior to the Carbamazepine.

ObjectiveThe therapeutic effectiveness of different electroacupuncture dose on lumbar disc herniation was studied. Methods200 cases with lumbar disc herniation, who were also diagnosed of blood stasis and qi stagnation, and obstruction of collaterals by TCM syndrome differentiation, were randomly divided into a control group and a treatment group (100/group) by tail number of cases. Both groups were cured with electroacupuncture, while receiving treatments of Qd, 20 minutes/time in the control group; Bid, 20minutes/time in the treatment group. Effects were analyzed after the treatment(35days/course). Results After treatment, control-markedly rate was 91％ in the treatment group, and 68％ in the control group; There was significant difference of control- markedly rate between the two groups (Z=-3.5480, P＜0.05). According to the analysis of the symptoms and signs: low back pain (0.65±0.03) score, tender point (1.12±0.11) score, lumbar activity (0.75±0.12) score, dysbasia ( 1.01 ±0.06) score, straight leg raising test (0.37±0.12) score,radioactive pain in the legs (0.61 ±0.09) score, strengthening test (0.29±0.08) score, toe strength (0.29±0.09)score in the control group, those improvements of both groups existed obvious statistical difference (P＜0.05).There was also significant difference of average effective time between the two groups (P＜0.01) [ (3.86±2.106)d in the treatment group, (5.12±3.125)d in the control group]. Conclusion Electroacupuncture Bid group was superior to electroacupuncture Qd group for treating lumbar disc herniation.