Objective:To observe the efficacy and safety of subcutaneous stripping combined with gold radiofrequency dot matrix microneedles in the treatment of atrophic acne scar.Methods:A total of 122 patients with atrophic acne scar in Dongying People′s Hospital from January 2023 to January 2024 were prospectively included and divided into two groups by random number table method: Observation group, 61 patients, including 37 males and 24 females, aged 20-43 (31.5±4.7) years, received subcutaneous stripping combined with gold radiofrequency dot matrix microneedles; Control group, 61 patients, including 33 males and 28 females, aged 22-44 (32.6±4.5) years, were treated with subcutaneous dissection. Patients in both groups were treated once every 4 weeks for a total of 3 times. The total effective rate, skin barrier function, wound recovery time, scar condition and adverse reactions were compared between the two groups.Results:The total effective rate of the observation group was 93.4% (57/61), which was higher than that of the control group [75.4% (46/61), P=0.005]. After treatment, the corneum protein content, lactate stimulation test score, skin erythema (a value), and transdermal water loss (TEWL) of the observation group were (29.52±3.22) μg, (1.72±0.18) min, 15.10±2.21, and (18.31±3.35) g/(h·m 2), respectively. They were lower than those (35.24±4.17) μg, (2.75±0.24) min, 19.14±2.57, and (21.23±4.52) g/(h·m 2) in the control group (all P<0.001). The wound healing time, shedding time and scab time in the observation group were (3.42±0.67), (6.57±1.21) and (1.73±0.32) d, respectively, which were shorter than those (5.31±0.99), (8.26±1.48) and (2.85±0.47) d in the control group (all P<0.001). The acne scar clinical score scale (ECCA) and Vancouver scar scale (VSS) scores in the observation group were (38.10±5.29) and (5.23±0.82) points, respectively, which were lower than those (43.65±6.44) and (6.34±0.97) points in the control group (all P<0.001). The incidence of adverse reactions was 11.5% (7/61) in the observation group and 8.2% (5/61) in the control group, the difference was not statistically significant ( P=0.540). Conclusion:Subcutaneous stripping combined with gold radiofrequency dot matrix microneedles is effective in the treatment of atrophic acne scars, which can improve skin barrier function, shorten wound recovery time, and improve scar symptoms with good safety.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To observe the efficacy and safety of subcutaneous stripping combined with gold radiofrequency dot matrix microneedles in the treatment of atrophic acne scar.Methods:A total of 122 patients with atrophic acne scar in Dongying People′s Hospital from January 2023 to January 2024 were prospectively included and divided into two groups by random number table method: Observation group, 61 patients, including 37 males and 24 females, aged 20-43 (31.5±4.7) years, received subcutaneous stripping combined with gold radiofrequency dot matrix microneedles; Control group, 61 patients, including 33 males and 28 females, aged 22-44 (32.6±4.5) years, were treated with subcutaneous dissection. Patients in both groups were treated once every 4 weeks for a total of 3 times. The total effective rate, skin barrier function, wound recovery time, scar condition and adverse reactions were compared between the two groups.Results:The total effective rate of the observation group was 93.4% (57/61), which was higher than that of the control group [75.4% (46/61), P=0.005]. After treatment, the corneum protein content, lactate stimulation test score, skin erythema (a value), and transdermal water loss (TEWL) of the observation group were (29.52±3.22) μg, (1.72±0.18) min, 15.10±2.21, and (18.31±3.35) g/(h·m 2), respectively. They were lower than those (35.24±4.17) μg, (2.75±0.24) min, 19.14±2.57, and (21.23±4.52) g/(h·m 2) in the control group (all P<0.001). The wound healing time, shedding time and scab time in the observation group were (3.42±0.67), (6.57±1.21) and (1.73±0.32) d, respectively, which were shorter than those (5.31±0.99), (8.26±1.48) and (2.85±0.47) d in the control group (all P<0.001). The acne scar clinical score scale (ECCA) and Vancouver scar scale (VSS) scores in the observation group were (38.10±5.29) and (5.23±0.82) points, respectively, which were lower than those (43.65±6.44) and (6.34±0.97) points in the control group (all P<0.001). The incidence of adverse reactions was 11.5% (7/61) in the observation group and 8.2% (5/61) in the control group, the difference was not statistically significant ( P=0.540). Conclusion:Subcutaneous stripping combined with gold radiofrequency dot matrix microneedles is effective in the treatment of atrophic acne scars, which can improve skin barrier function, shorten wound recovery time, and improve scar symptoms with good safety.

Objective:To report the clinical and genetic characteristics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) induced by a new homozygous mutation in the SACS gene, and to improve the clinicians′ recognition of the disease. Methods:Detailed nervous system physical examination was performed on the patient and his parents from a consanguineous family admitted to the Genetics and Metabolism Clinic of the Department of Neurology, the First Affiliated Hospital of Kunming Medical University in March 2022. The peripheral blood DNA of the patient and his parents was extracted, and whole exon sequencing (WES) was performed on the patient and his parents using second-generation sequencing technology. The mutation sites were verified by Sanger sequencing, and the mutation sites were analyzed by software.Results:The 18-year-old Han ethnic male patient developed a progressive stiffness of his bilateral lower limbs and gait unsteadiness since the age of 3. He had pyramidal tract sign in his bilateral lower limbs, cerebellar ataxia, pes cavus and hammer toes. Brain magnetic resonance imaging (MRI) showed symmetrical low signal of bilateral pons, cerebellar atrophy and thinning of corpus callosum in T 2WI and T 2 fluid attenuated inversion recovery (FLAIR) sequences. Neuroelectrophysiological examination showed sensory motor peripheral neuropathy. Ophthalmic examination revealed concomitant exotropia and ametropia in both eyes. WES revealed a homozygous variant of c.6958T>C (p.Tyr2320His) in exon 10 of the SACS gene of the patient, and his parents were heterozygous variant carriers confirmed by Sanger sequencing. The variant was classified as possibly pathogenic (PM1+PM2+PP3+PP4) according to the American Society for Medical Genetics and Genomics. The patient was clearly diagnosed as ARSACS caused by homozygous mutation of c.6958T>C in the SACS gene. Conclusions:A novel pathogenic variant (c.6958T>C) in the SACS gene identified in this study leads to the manifestation of ARSACS. The primary clinical manifestations include cerebellar ataxia, pyramidal tract signs, and sensorimotor peripheral neuropathy. Head MRI examination of T 2WI and T 2FLAIR sequences with symmetrical low signal on both sides of the pons helps to narrow down the scope of differential diagnosis.

Diabetes mellitus(DM)stands as a chronic metabolic ailment predominantly characterized by elevated blood glucose lev-els,stemming from either a resistance to insulin or aberrations in insulin secretion.The ensuing persistent hyperglycemia,a direct con-sequence of pancreatic β-cell devastation,acts as a catalyst for a myriad of complications,inclusive of extensive neuropathies.The dis-ease has substantial prevalence and mortality rates,underscoring the gravity of its impact on public health.Dental pulp stem cells(DPSCs)are readily obtainable,and they exhibit a profound capacity for self-renewal,multi-lineage differentiation,and vigorous pro-liferation.Remarkably,DPSCs can differentiate into pancreatic β-cells,subsequently participate in insulin secretion and play a pivotal role in immune modulation.This has achieved notable advancements in the therapeutic domain,particularly in the treatment of chronic diseases.Furthermore,DPSCs harbor the potential to mitigate symptoms in patients afflicted with type 1 diabetes.They navigate this therapeutic pathway through mechanisms that involve suppressing autoimmunity,modulating inflammatory responses,and counteracting oxidative stress.This article meticulously reviews the biological characteristics inherent to DPSCs and explores their multifaceted thera-peutic potential in addressing DM and its associated complications.Through this endeavor,the article aims to contribute to the refine-ment and enhancement of DM management strategies.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 ( NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.

A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 ( NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.