OBJECTIVE: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations. METHODS: Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). RESULTS: Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated. CONCLUSION This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.
Humans ; Child ; Pregnancy ; Male ; Female ; Adult ; Homozygote ; Sequence Deletion ; Prenatal Diagnosis ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Survival of Motor Neuron 1 Protein/genetics* ; Genetic Carrier Screening

Objective:To further improve socket shield technique. The treatment outcome and the key related factors in Asian population are evaluated by measuring the root fragment and alveolar crest parameters in immediate implant placement cases with socket shield.Methods:A total of 18 patients, with 21 implants placed using socket shield technique were included in this retrospective study. Fourteen implants of 11 cases were recruited from West China Hospital of Stomatology, Sichuan University, 7 implants of 7 cases were recruited from Stomatological Hospital of Chongqing Medical University. The relationship between the thickness of the root fragment, the vertical height of the root fragment and the dimensional changes of buccal alveolar bone in 6 months was analyzed respectively. The pink-white esthetic scores were evaluated. The complications were recorded, analyzed and preventive measures were put forward.Results:There is a negative correlation between the vertical height of tooth fragment and the buccal crest height reduction ( r=-0.458, P=0.037). There were negative correlations between the thickness of the tooth fragment with the vertical dimensional changes ( r=-0.574, P=0.007) and horizontal dimensional changes ( r=-0.619, P=0.003) of buccal alveolar bone. Three cases with internal exposure were recorded during the treatment. No severe complications were observed. Every case achieved a satisfying pink-white esthetic outcome according to the existing treatment protocols. Conclusions:Rigorous case screening, delicate surgical procedures, and maintaining adequate thickness of the root are the key to achieve a good esthetic outcome of implant treatment with socket shield technique.