Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC).@*METHODS@#Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members.@*RESULTS@#Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.

Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS).@*METHODS@#A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed.@*RESULTS@#The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.

Phenotypic and genetic analysis of a child with partial trisomy 7q / 中华医学遗传学杂志

OBJECTIVE@#To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation.@*METHODS@#A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child.@*CONCLUSION@#The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.

MYT1L gene mutation chimerism with autism as the predominant phenotype: a case report and literature review / 中华实用儿科临床杂志

The clinical phenotypes and genotypes of a child with autism spectrum disorder (ASD) concomitant with MYT1L gene mutation were analyzed retrospectively, who was admitted to the Department of Rehabilitation Medicine of Henan Children′s Hospital in April 2019.Whole genome sequencing and copy number variations detection were performed on the child and relevant articles about MYT1L mutation were subjected to a literature review.It was found that this child had a missense mutation of MYT1L gene (c.2186T>G, p.Met729Arg) in 15 exon and was in a state of chimera, with about 10% of the mutation rate.This mutation was not identified in the parents and brother of this patient.A total of 18 reports of MYT1L-related genetic abnormalities were retrieved, including 53 patients in total (including this case), including 22 patients with point mutations and 30 patients containing MYT1L gene region with 2p25.3 chromosomal microdeletions.The incidence of autism was 45.0% (18/40 cases), that of overweight/obesity was 70.2% (33/47 cases) and that of dysnoesia/hypoevolutism was 96.2%(51/53 cases). However, chimeras had relatively mild symptoms.It indicates that the mutation of MYT1L is an important risk factor of ASD, but chimeras have mild symptoms.The children with ASD who are obese or overweight should be alerted to the possible presence of MYT1L mutation, and genetic testing can be performed to confirm the diagnosis and the possibility of chimerism.The spectrum of genetic mutations in ASD was expanded in this study.

Application of CD83 and HSF5 to Identify Antemortem and Postmortem Skin Burns / 法医学杂志

OBJECTIVES@#To explore the forensic application value of cluster of differentiation 83 (CD83) and heat shock transcription factor 5(HSF5) in identifying antemortem and postmortem skin burns.@*METHODS@#Through reverse transcription real-time quantitative polymerase chain reaction (RT-qPCR), CD83 and HSF5 mRNA levels in the skin tissues of antemortem and postmortem burned mice and human samples were detected quantitatively.@*RESULTS@#Compared with the control group and the postmortem burned group, the mRNA levels of CD83 and HSF5 in antemortem burned mice were higher. The high mRNA expressions of CD83 could be detected 96 h after death, and the mRNA expressions of HSF5 could be observed 72 h after death. Compared with undamaged skin, increased CD83 and HSF5 mRNA levels were detected in 11 out of 15 cases(P<0.05).@*CONCLUSIONS@#CD83 and HSF5 can be used in forensic practice as indicators for vital reaction in antemortem burn identification.

Acupuncture combined with / 中国针灸

OBJECTIVE@#To observe the efficacy of acupuncture combined with @*METHODS@#A total of 180 children with cerebral palsy were randomly divided into a combined group (60 cases, 2 cases dropped off), an acupuncture group (60 cases, 4 cases dropped off) and a Chinese medication group (60 cases, 5 cases dropped off). On the basis of conventional treatment, the children in the combined group were treated with acupuncture [Baihui (GV 20), Sishencong (EX-HN 1), Shenting (GV 24), Benshen (GB 13), 30 min each time, twice a day] and @*RESULTS@#The total effective rate was 91.4% (53/58) in the combined group, which was higher than 80.4% (45/56) in the acupuncture group and 78.2% (43/55) in the Chinese medication group (@*CONCLUSION@#Acupuncture combined with

Phenotypic and genetic analysis of a boy with inv dup del(8p) / 中华医学遗传学杂志

OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.

Research progress of miRNA in ovarian cancer / 国际生物医学工程杂志

Ovarian cancer is one of the most common gynecological malignancies leading to female deaths, and its early diagnosis and prevention are very complicated. Therefore, biomarkers for this disease prediction and prognosis are urgently needed for early diagnosis and individualized treatment. miRNAs are short-chain, highly conserved non-coding RNA molecules that mainly degrade or inhibit target genes at the post-transcriptional level to regulate cell growth, proliferation, differentiation, metabolism, and apoptosis. Existing studies have confirmed that miRNAs can be used as potential biomarkers for clinical diagnosis and treatment of cancer. Moreover, tumor-related miRNAs play an important role in the occurrence, invasion and metastasis of ovarian cancer by regulating the expression of multiple oncogenes and tumor suppressor genes. In this paper, the roles of miRNAs as biomarkers for early prevention or detection of ovarian cancer, prognostic diagnosis and treatment targets were reviewed, and the future clinical application of miRNA in patients with ovarian cancer was proposed.

A case of SBBYSS syndrome caused by KAT6B gene variant / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Kleefstra syndrome 1 and ring chromosome 9 in a case / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.@*METHODS@#Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.@*RESULTS@#The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.@*CONCLUSION@#The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.

Clinical and genetic studies of two cases of fructose-1,6-bisphosphatase deficiency caused by FBP1 mutations / 中国实用儿科杂志

OBJECTIVE: To analyze the clinical and molecular genetic characteristics of 2 cases of fructose-1,6-bisphosphatase deficiency in the same family to provide evidence for the precise treatment,genetic counseling and prenatal diagnosis.METHODS: Clinical data were collected from 2 patients with hypoglycemia encephalopathy,and molecular genetic analysis was performed using targeted capture next-generation sequencing. RESULTS: The 2 patients were siblings,the male proband was 7 years old,mainly manifested with convulsions after hunger or ingestion of a large amount of fructose,accompanied by ketoacidosis;clinical diagnosis was hypoglycemia encephalopathy,and fructose metabolism abnormalities was suspected. The younger brother was 4 years old,mainly showing hunger and sweating in the morning,stomach ache after eating fruit,and convulsion episode once after hunger. Next-generation sequencing results showed that the siblings had c.333+1＿2 delinsTC and c.490 G>A compound heterozygous mutations in the FBP1 gene,and their parents were carriers with normal phenotype.The c.333+1＿2 delins TCis a novel mutation,c.490 G>A is a reported pathogenic mutation,and the two patients were diagnosed with fructose-1,6-bisphosphatase deficiency genetically. CONCLUSION: For children with unexplained hypoglycemia,convulsions and metabolic acidosis,the fructose-1,6-bisphosphatase deficiency should be considered. Early genetic analysis is helpful to clarify the cause,make precise treatment and improve prognosis.

Robot-assisted gait training can improve lower limb function in cases of acute flaccid paralysis resulting from hand-foot-and-mouth disease / 中华物理医学与康复杂志

Objective To explore the effect of robot-assisted gait training on the standing and walking balance of persons with acute flaccid paralysis (AFP) resulting from hand-foot-and-mouth disease (HFMD).Methods Thirty-six persons with AFP resulting from HFMD were randomly divided into a control group and a training group,each of 18.Both groups were given conventional rehabilitation training,while the training group was additionally provided with robot-aided gait training.The control group received additional massage of their affected limbs.Before and after 15 days of treatment the subjects' standing and walking ability were evaluated using parts D and E of the gross motor function (GMFM) scale.Their balance was quantified using the Berg balance scale (BBS) and integrated surface electromyograms were recorded.Results There were no significant differences between the two groups before the treatment.After 6 weeks of treatment the average scores of both groups had improved significantly,with a significantly bigger increase observed in the training group.After the treatment,the average GMFM and BBS scores of the training group were significantly higher than those of the control group.Conclusion Gait training in addition to conventional rehabilitation training can significantly improve the standing,walking and balance of patients with HFMD resulting from AFP and promote their recovery.

Combination of hyaluronic acid and bone marrow mesenchymal stem cells promotes cardiac function after myocardial infarction / 中国组织工程研究

BACKGROUND: The poor retention and survival of donor cells implanted into the myocardium limit the efficacy of cell therapy for myocardial infarction. Embedding cells in natural or synthetic biomaterials is a strategy to address this issue. OBJECTIVE: To explore the effects of bone marrow mesenchymal stem cells (BMSCs) encapsulated in hyaluronic acid (HA) hydrogel on cardiac function after myocardial infarction. METHODS:BMSCs from male Sprague-Dawley rats were isolated and cultured,and then HA-encapsulated BMSCs were cultured in vitro in the three-dimensional manner. A model of myocardial infarction was made by cutting the anterior descending artery of female Sprague-Dawley rats. After 1 week, the model rats were screened by ultrasonic testing and then eligible ones were randomly divided into four groups: PBS group (n=8), HA group (n=8), BMSCs group (n=29), and HA-encapsulated BMSCs group (n=29). At 1 week after modeling, the model rats underwent the secondary thoracotomy and the implants were injected into the marginal zone and infarcted region in corresponding groups. The survival rate and apoptosis of implanted cells were examined at post-injection day 1, week 1 and week 2 by RT-PCR and TUNEL respectively. At post-injection week 4, changes of cardiac microstructure and function were evaluated by histological examination and echocardiography. RESULTS AND CONCLUSION: Compared with the BMSCs group, HA hydrogel significantly enhanced the survival rate and reduced the apoptotic rate of BMSCs at post-injection day 1 and week 2 (both P < 0.05). At post-injection week 4, the HA+BMSCs combined treatment yielded the best recovery of cardiac function (P < 0.05). To conclude, HA hydrogel can act as a vehicle for BMSCs delivery and improve the beneficial effects of implanted BMSCs in early myocardial repair(within 2 weeks after infarction)via enhancing cell retention and survival.

Analysis on screening results of 2203 premature infants with retinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

· AIM:To investigate the incidence and risk factors of retinopathy of prematurity (ROP) in preterm infants.· METHODS:The wide-field digital pediatric Retinal imaging system was used to screen 2203 preterm infants with gestational age ＜ 37wk or birth weight ≤ 2000g in NICU and the Ophthalmology Department of Northwest Women and Children Hospital from January 15,2015 to October 15,2017.The screening results were used to calculate the incidence of ROP and to analyze the risk factors.· RESULTS:Totally 367 infants (621 eyes) were diagnosed as retinopathy among 2203 premature infants and the incidence of ROP was 16.66％;236 cases (399 eyes) of ROP (26.61％) were detected in 887 cases of premature infants in accord with screening standard of the Chinese Premature Retinopathy Screening Guidelines (2014),and 131 cases (222 eyes) of ROP (9.95％) was detected in 1316 cases of premature infants outside the screening standard.In our research,the incidence of ROP was related with gestational age,birth weight,oxygen duration and mechanical ventilation.However,the relationship had not been found with artificial insemination,caesarean birth,gender,polyembryony,acute respiratory distress syndrome (ARDS),hypertensive disorders in pregnancy,gestational diabetes mellitus,intrauterine infection,intrauterine distress,premature rupture of membrane.The incidence of ROP was statistically significant between different gestational age groups,different birth weight groups and different oxygen groups (P＜ 0.05).Logistic analysis showed that gestational age,birth weight,oxygen duration and mechanical ventilation were independent risk factors of ROP.· CONCLUSION:The incidence of ROP is 16.66％ in this study,and there is still a certain proportion outside the screening standard of the Chinese Premature Retinopathy Screening Guidelines (2014).Gestational age,birth weight,oxygen duration and mechanical ventilation are high risk factors for ROP.

Application Effects of DS8000 Intelligent Sorting System in the PIVAS of Our Hospital / 中国药房

OBJECTIVE:To improve the automation and information level of Pharmacy intravenous admixture service (PIV-AS),and provide reference for the PIVAS development. METHODS:Related functions of DS8000 intelligent sorting system and its effect of PIVAS were introduced;work environment,workflow,work efficiency,labor intensity and sorting error before and af-ter the system application were compared. RESULTS:The application of intelligent sorting system achieved the automation of multi-ple links including reviewing,sorting,automatically counting,automatically generating hand-over lists of departments,statistical inquiring for related information in finished soft bag infusion sorting. Compared with manual sorting,it only covered less area, working environment was neat and orderly,workflow links was reduced (6 vs. 10),work time was shortened (average time for sorting per bag of infusion 13.53 s vs. 3.11 s),labor intensity was decreased,and work error rate was reduced (0.128‰ vs. 0.013‰);meanwhile,it improved the management for shading drugs,and achieved data analysis of PIVAS and management infor-mation. CONCLUSIONS:The application of DS8000 intelligent sorting system has improved the automation and information of PI-VAS,and promoted the construction and development of PIVAS.

Effects of moxibustion on immune function in children with cerebral palsy / 中国针灸

<p><b>OBJECTIVE</b>To compare the effects between moxibustion at Guanyuan (CV 4), Shenshu (BL 23), Zusanli (ST 36) and western medication on immune function in children with cerebral palsy.</p><p><b>METHODS</b>A total of 230 children with cerebral palsy were randomly divided into an observation group and a control group, 115 cases in each one. Patients in the observation group were treated with warm moxibustion at Guanyuan (CV 4), Shenshu (BL 23) and Zusanli (ST 36). Patients in the control group were treated with oral administration of pidotimod 10 mL every time. The treatment was given once a day, and 30 days were considered as one session for total 90 days. The changes of T-lymphoctyte subgroups, serum immunoglobulin and development quotient were compared 30 days, 60 days and 90 days into treatment respectively; also the occurrence rate.of disease was observed during 6-month and 12-month follow-up visit.</p><p><b>RESULTS</b>The T-lymphoctyte subgroups (CD3+, CD4+, CD4+/CD8+), serum immunoglobulin (IgG, IgA) and development quotient were significantly improved 30 days, 60 days and 90 days into treatment (P < 0.01, P < 0.05). Regarding the changes of CD3+, CD4+, CD4+/CD4+, IgG, IgA and development quotient, the control group was superior to the observation group 30 days into treatment (all P < 0.05), and the control group was similar to the observation group 60 days into treatment (all P > 0.05), and the observation group was superior to the control group 90 days into treatment (all P < 0.05). There was no significant difference of CD8+ and IgM before and after treatment in two groups (all P > 0.05). The rate of adverse events was 7.0% (8/115) in the observation group, which was lower than 23.5% (27/115) in the control group (P < 0.01); during 6-month and 12-month follow-up visit, the occurrence rate of disease in the observation group was lower than that in the control group (P < 0.05).</p><p><b>CONCLUSION</b>Moxibustion at Guanyuan (CV 4), Shenshu (BL 23) and Zusanli (ST 36) can improve immune function of children with cerebral palsy, which is superior to pidotimod.</p>

Neonatal hypoxic ischemic encephalopathy treated with acupuncture combined with acupoint injection: a randomized controlled trial / 中国针灸

<p><b>OBJECTIVE</b>To observe the clinical efficacy difference in the treatment of neonatal hypoxic ischemic encephalopathy (NHIE) between the combined therapy of acupuncture land acupoint injection of nerve growth fac-tor (NGF) and the combined therapy of the intravenous drop of citicoline sodium and intramuscular injection of NGF.</p><p><b>METHODS</b>Sixty-one cases of NHIE were randomized into an observation group (32 cases) and a control group (29 cases). In the observation group, acupuncture combined with acupint injection of NGF was adopted. The acupoints were Baihui (GV 20), Dazhui (GV 14) and Fengfu (GV 16), 0. 5 mL each acupoint, once a day. In the control group, the intravenous drop of citicoline sodium and intramuscular injection of NGF were used. The, treatment of 7 days made one session and 3 sessions were required. Separately, in 7, 14 and 21 days of treatment, the clinical efficacy, behavior nerve determination score and adverse reaction were observed in the two groups.</p><p><b>RESULTS</b>In 7, 14 and 21 days of treatment, the total effective rates were 50. 0% (16/32), 68. 8% (22/32) and 78. 1% (25/32) in the observation group and were 69. 0% (20/29), 72. 4% (21/29) and 82. 8% (24/29) in the control group. The result in the control group was better than that in the observation group in the 7 days (P< 0. 05). The behavior determination scores in 7, 14 and 21 days were all improved obviously as compared with those before treatment in the two groups (P<0. 05, P<0. 01). The score in the control group was better than that in the, observation group in the 7 days (P<0. 05). The differences were not significant in the scores between the two groups in 14 and 21 days (both P>0. 05). The incidence of adverse reaction in the observation group was lower than that in, the control group [14. 3% (5/35) vs 31. 4% (11/35), P<0. 05] and the severity was mild.</p><p><b>CONCLUSION</b>In the treatment of NHIE with the combined therapy of acupuncture and acupint injection, the overall efficacy in 1 week; is inferior to that of the combined therapy of the intravenous drop of citicoline sodium and intramuscular injection of NGF. But the efficacy is improved gradually along with the treatment progression and the adverse reaction is less.</p>

Clinical controlled trial on infantile Tourette syndrome treated with integrated therapy of acupuncture and medicine / 中国针灸

<p><b>OBJECTIVE</b>To compare the difference in the clinical efficacy on infantile Tourette syndrome between the integrated therapy of acupuncture and pingganjianpi decoction and haloperidol tablets.</p><p><b>METHODS</b>Forty-seven children were randomized into an observation group (25 cases) and a control group (22 cases). In the observation group, acupuncture was applied to Taichong (LR 3), Baihui (GV 20), Zhongwan (CV 12), Zusanli (ST 36), etc. The needles were retained for 30 min. Acupuncture was given once a day and there were 5 days at intervals after 10 times of acupuncture. Additionally, pinggan jianpi decoction was prescribed. In the control group, haloperidol tablets were prescribed, starting from the small dose, 0. 05 mg/kg per day, twice a day. The treatment of 30 days made one session and 3 sessions were required. Yale global tic severity scale (YGTSS) was adopted to observe tic time, tic frequency and tic severity score before treatment and in 30 days, 60 days and 90 days after treatment in the two groups. The efficacy and adverse reactions were compared between the two groups.</p><p><b>RESULTS</b>The total effective rates were 40. 0% (10/25), 64.0% (16/25) and 76.0% (19/25) in the observation group and were 59.1% (13/22), 68.2% (15/22) and 77.3% (17/22) in the control group in 30 days, 60 days and 90 days after treatment respectively. The effect in 30 days after treatment in the control group was better than that in the observation group (P<0. 05). The differences at the other time points were not significant between the two groups (all P>0. 05). The tic time, tic frequency and tic severity score at the each time point after treatment were reduced obviously as compared with those before treatment (all P<0. 05). Each item score in the control group was reduced obviously as compared with that in the observation group in 30 days after treatment (all P<0. 05). The differences at the other time points were not significant between the two groups (all P>0.05). The probability of adverse reaction in the observation group was less than that in the control group.</p><p><b>CONCLUSION</b>The integrated therapy of acupuncture and medicine achieves the similar effect on infantile Tourette syndrome to haloperidol tablets and the side effects of it are less.</p>