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Protein as the allergens could lead to allergy. In addition, a widespread class of allergens were known as glycans of N-glycoprotein. N-glycoprotein contained oligosaccharide linked by covalent bonds with protein. Recently,studies implicated that allergy was associated with glycans of heterologous N-glycoprotein found in food, inhalants, insect toxins, etc. The N-glycan structure of N-glycoprotein allergen has exerted an influence on the binding between allergens and IgE, while the recognition and presentation of allergens by antigen-presenting cells (APCs) were also affected. Some researches showed thatN-glycan structure of allergen was remodeled by N-glycosidase, such as cFase I, gpcXylase, as binding of allergen and IgE partly decreased. Thus, allergic problems caused by N-glycoproteins could potentially be solved by modifying or altering the structure ofN-glycoprotein allergens, addressing the root of the issue. Mechanism of N-glycans associated allergy could also be elaborated through glycosylation enzymes, alterations of host glycosylation. This article hopes to provide a separate insight for glycoimmunology perspective, and an alternative strategy for clinical prevention or therapy of allergic diseases.
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The clinical applications of acrosin activity are limited. We analyzed 61 578 male partners in infertile couples who visited the outpatient department of the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) between August 2014 and December 2019 to determine the reference ranges and thresholds for acrosin activity in infertile Chinese men; to determine whether correlations exist between acrosin activity and age, sperm concentration, sperm morphology, or sperm motility; and to evaluate whether acrosin activity could serve as an effective prognostic indicator for choosing between in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in the clinic. The cut-off value for the normal reference range of acrosin activity for male partners in infertile couples was 24.78 μIU per 106 sperm. There was no significant association between acrosin activity and age, sperm concentration, semen volume, total sperm count, progressive motility, or total motile spermatozoa. A weak positive correlation was found between acrosin activity and normal sperm morphology. There was a statistically significant difference in abnormal acrosome morphology between the group with high acrosin activity (>24.78 μIU per 106 sperm) and the group with low acrosin activity (<24.78 μIU per 106 sperm). The group with a low IVF fertilization rate had a high index of abnormal acrosomal morphology at 21.2%, while the group with a high IVF fertilization rate had a low index of 0.2%. At an acrosin activity of <24.78 µIU per 106 sperm, in one cycle of the same patient, the fertilization rate, normal fertilization rate, and good-quality embryo rate for ICSI were significantly higher than those for IVF. Therefore, the most promising application of acrosin activity could be in the selection of ICSI over IVF for infertile male patients with complete fertilization failure or a low fertilization rate.
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Objective: To evaluate the effect of Wendler Glottoplasty to elevate vocal pitch in transgender women. Methods: The voice parameters of pre-and 3-month post-surgery of 29 transgender women who underwent Wendler Glottoplasty in department of otorhinolaryngology head and neck surgery of Beijing Friendship Hospital from January, 2017 to October, 2020 were retrospectively analyzed. The 29 transgender women ranged in age from 19-47 (27.0±6.3) years old. Subjective evaluation was performed using Transsexual Voice Questionnaire for Male to Female (TVQMtF). Objective parameters included fundamental frequency (F0), highest pitch, lowest pitch, habitual volume, Jitter, Shimmer, maximal phonation time (MPT), noise to harmonic ratio (NHR) and formants frequencies(F1, F2, F3, F4). SPSS 25.0 software was used for statistically analysis. Results: Three months after surgery, the score of TVQMtF was significantly decreased [(89.9±14.7) vs. (50.4±13.6), t=11.49, P<0.001]. The F0 was significantly elevated [(152.7±23.3) Hz vs. (207.7±45.9) Hz, t=-6.03, P<0.001]. Frequencies of F1, F2 and F3 were significantly elevated. No statistical difference was observed in the frequencies of F4. The highest pitch was not significantly altered while the lowest pitch was significantly elevated [(96.8±17.7) Hz vs. (120.0±28.9) Hz, t=-3.71, P=0.001]. Habitual speech volume was significantly increased [(60.0±5.2) dB vs. (63.6±9.6) dB, t=-2.12, P=0.043]. Jitter, Shimmer, NHR and MPT were not obviously altered (P>0.05). Conclusions: Wendler Glottoplasty could notably elevate the vocal pitch, formants frequencies and degree of vocal femininity in transgender women without affecting phonation ability and voice quality. It can be an effective treatment modality for voice feminization.
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Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Pessoas Transgênero , Estudos Retrospectivos , Acústica da Fala , Qualidade da Voz , FonaçãoRESUMO
OBJECTIVE@#To explore the genetic basis for 7 families with gonadal mosaicism for Duchenne muscular dystrophy (DMD).@*METHODS@#For the 7 families presented at the CITIC Xiangya Reproductive and Genetic Hospital from September 2014 to March 2022, clinical data were collected. Preimplantation genetic testing for monogenic disorders (PGT-M) was carried out for the mother of the proband from family 6. Peripheral venous blood samples of the probands, their mothers and other patients from the families, amniotic fluid samples from families 1 ~ 4 and biopsied cells of embryos cultured in vitro from family 6 were collected for the extraction of genomic DNA. Multiplex ligation-dependent probe amplification (MLPA) was carried out for the DMD gene, and short tandem repeat (STR)/single nucleotide polymorphism (SNP)-based haplotypes were constructed for the probands, other patients, fetuses and embryos.@*RESULTS@#The results of MLPA showed that the probands and the fetuses/probands' brothers in families 1 ~ 4, 5, 7 had carried the same DMD gene variants, whilst the probands' mothers were all normal. The proband in family 6 carried the same DMD gene variant with only 1 embryo (9 in total) cultured in vitro, and the DMD gene of the proband's mother and the fetus obtained through the PGT-M were normal. STR-based haplotype analysis showed that the probands and the fetuses/probands' brothers in families 1 ~ 3 and 5 have inherited the same maternal X chromosome. SNP-based haplotype analysis showed that the proband from family 6 has inherited the same maternal X chromosome with only 1 embryo (9 in total) cultured in vitro. The fetuses in families 1 and 6 (via PGT-M) were both confirmed to be healthy by follow up, whilst the mothers from families 2 and 3 had chosen induced labor.@*CONCLUSION@#Haplotype analysis based on STR/SNP is an effective method for judging gonad mosaicism. Gonad mosaicisms should be suspected for women who have given births to children with DMD gene variants but with a normal peripheral blood genotype. Prenatal diagnosis and reproductive intervention may be adapted to reduce the births of further affected children in such families.
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Masculino , Gravidez , Criança , Humanos , Feminino , Distrofia Muscular de Duchenne/diagnóstico , Distrofina/genética , Mosaicismo , Éxons , Diagnóstico Pré-Natal/métodos , NucleotídeosRESUMO
OBJECTIVE@#To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age.@*METHODS@#A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed.@*RESULTS@#One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria.@*CONCLUSION@#This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.
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Feminino , Humanos , Recém-Nascido , Povo Asiático/genética , China , Exoma , Doenças Metabólicas/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Oxirredutases/genética , Sequenciamento do ExomaRESUMO
OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.
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Feminino , Humanos , Proteína do X Frágil da Deficiência Intelectual/metabolismo , Síndrome do Cromossomo X Frágil/genética , Doenças Ovarianas , Reserva Ovariana/genética , Insuficiência Ovariana Primária/genética , Repetições de Trinucleotídeos/genéticaRESUMO
OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
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Feminino , Humanos , Gravidez , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Deficiência Intelectual/genética , Mutação , Diagnóstico Pré-NatalRESUMO
Oligoasthenoteratozoospermia (OAT) refers to the combination of various sperm abnormalities, including a decreased sperm count, reduced motility, and abnormal sperm morphology. Only a few genetic causes have been shown to be associated with OAT. Herein, we identified a novel homozygous frameshift mutation in meiosis-specific nuclear structural 1 (MNS1; NM_018365: c.603_604insG: p.Lys202Glufs*6) by whole-exome sequencing in an OAT proband from a consanguineous Chinese family. Subsequent variant screening identified four additional heterozygous MNS1 variants in 6/219 infertile individuals with oligoasthenospermia, but no MNS1 variants were observed among 223 fertile controls. Immunostaining analysis showed MNS1 to be normally located in the whole-sperm flagella, but was absent in the proband's sperm. Expression analysis by Western blot also confirmed that MNS1 was absent in the proband's sperm. Abnormal flagellum morphology and ultrastructural disturbances in outer doublet microtubules were observed in the proband's sperm. A total of three intracytoplasmic sperm injection cycles were carried out for the proband's wife, but they all failed to lead to a successful pregnancy. Overall, this is the first study to report a loss-of-function mutation in MNS1 causing OAT in a Han Chinese patient.
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Objective:To explore the genetic etiology for a premature ovarian insufficiency (POI) patient from a consanguineous Chinese family, and to provide basis for genetic counseling and fertility counseling.Methods:Whole-exome sequencing was performed using DNA extracted from the blood sample of POI patient. Suspected pathogenic mutation was analyzed by bioinformatics methods and verified by Sanger sequencing. The pathogenicity of the variation was assessed according to the ACMG genetic variation classification criteria and guidelines.Results:A homozygous variation, c. 32G>T (p.G11V), of PSMC3IP was identified in the patient. Bioinformatics analysis revealed that the variation was conserved in different animal species, and this variation was classified as possible pathogenic variation according to the ACMG genetic variation classification criteria and guidelines.Conclusions:The homozygous missense variation of PSMC3IP is the cause of the POI patient in this family. We are reporting for the first time the missense variation in PSMC3IP gene caused POI, which enriched the mutation spectrum of PSMC3IP and provided the basis for genetic counseling and fertility guidance of this family.
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Objective:To control the quality of the reference sample of Wenjingtang by establishing the specific chromatograms. Method:On the basis of analyzing 15 batches of Wenjingtang freeze-dried powder samples, a high performance liquid chromatography (HPLC) specific chromatogram analysis method of Wenjingtang was established. The system adaptability was investigated and the retention time, relative retention value and deviation caused by different chromatographic columns and instruments were calculated by using the same brand of chromatographic columns, four different brands of chromatographic columns and instruments from three different manufacturers. The precision, repeatability and stability of this method was further completed. The possible chemical components of the freeze-dried powders were speculated and identified by ultra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry (UPLC-Q-TOF-MS<italic><sup>n</sup></italic>). Chromatographic separation was performed on ACQUITY UPLC BEH C<sub>18</sub> column (2.1 mm×100 mm, 1.7 μm) with acetonitrile (A)-0.1% formic acid aqueous solution (B) as mobile phase for gradient elution (0-2.8 min, 10%A; 2.8-8.0 min, 10%-18%A; 8.0-12.2 min, 18%-25%A; 12.2-15.3 min, 25%-40%A; 15.3-17.4 min, 40%A; 17.4-20.5 min, 40%-90%A), and column temperature was set at 30 ℃ with flow rate of 0.4 mL·min<sup>-1</sup>. Mass spectrometry was performed on electrospray ionization, data were collected under positive and negative ion modes, and the detection range was <italic>m</italic>/<italic>z</italic> 50-1 600. Result:Ten characteristic peaks were selected as the distinguishing features in this specific chromatograms, and eight of them were identified by comparing with the reference standards, including paeoniflorin (peak 1), liquiritin apioside (peak 2), liquiritin (peak 3), ferulic acid (peak 4), iquiritigenin (peak 6), cinnamaldehyde (peak 8), paeonol (peak 9)and glycyrrhizic acid (peak 10). By mass spectrometry analysis, 30 compounds were identified, and the source of medicinal materials were assigned. It mainly contained triterpenoid saponins and flavonoids from Glycyrrhizae Radix et Rhizoma, ginsenosides from Ginseng Radix et Rhizoma, monoterpenoid glycosides and tannins from Paeoniae Radix Alba, steroids in Achyranthis Bidentatae Radix, phenolic acids in Angelicae Sinensis Radix. Conclusion:The established characteristic chromatographic analysis method of Wenjingtang is simple, stable and repeatable. The chemical composition of the freeze-dried powder of Wenjingtang is basically defined by mass spectrometry identification and source attribution, which can provide reference for the development and quality control of Wenjingtang in the future.
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Multidrug resistance (MDR) mediated by ATP binding cassette subfamily B member 1 (ABCB1) is significantly hindering effective cancer chemotherapy. However, currently, no ABCB1-inhibitory drugs have been approved to treat MDR cancer clinically, mainly due to the inhibitor specificity, toxicity, and drug interactions. Here, we reported that three polyoxypregnanes (POPs) as the most abundant constituents of
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Pyrrolizidine alkaloids (PAs) are the most common phytotoxins with documented human hepatotoxicity. PAs require metabolic activation by cytochromes P450 to generate toxic intermediates which bind to proteins and form protein adducts, thereby causing cytotoxicity. This study investigated the role of the gut-liver axis in PA intoxication and the underlying mechanisms. We exposed mice to retrorsine (RTS), a representative PA, and for the first time found RTS-induced intestinal epithelium damage and disruption to intestinal barrier function. Using mice with tissue-selective ablation of P450 activity, we found that hepatic P450s, but not intestinal P450s, were essential for PA bioactivation. Besides, in RTS-exposed, bile duct-cannulated rats, we found the liver-derived reactive PA metabolites were transported by bile into the intestine to exert enterotoxicity. The impact of gut-derived pathogenic factors in RTS-induced hepatotoxicity was further studied in mice with dextran sulfate sodium (DSS)-induced chronic colitis. DSS treatment increased the hepatic endotoxin level and depleted hepatic reduced glutathione, thereby suppressing the PA detoxification pathway. Compared to RTS-exposed normal mice, the colitic mice displayed more severe RTS-induced hepatic vasculature damage, fibrosis, and steatosis. Overall, our findings provide the first mode-of-action evidence of PA-induced enterotoxicity and highlight the importance of gut barrier function in PA-induced liver injury.
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Based on the textual research on literature, the key information of Wenjing Decoction were tested and identified, and 15 batches of lyophilized powder samples of Wenjing Decoction were prepared. The specific components, including paeoniflorin, glycyrrhizin, ginsenosides(Rg_1, Re and Rb_1), glycyrrhizic acid, and paeonol, were used as indexes to establish the HPLC method for quantitative evaluation, and the content ranges and transfer rates of these components were determined. The results showed that the contents of paeoniflorin, glycyrrhizin, ginsenosides Rg_1 + Re, ginsenoside Rb_1, glycyrrhizic acid, and paeonol in the 15 batches of samples were 0.62%-0.86%, 0.25%-0.76%, 0.14%-0.30%, 0.07%-0.21%, 0.63%-1.16%, and 0.09%-0.25%, respectively, and their transfer rates from the decoction pieces to the reference materials were 14.99%-19.42%, 28.11%-40.93%, 25.92%-61.88%, 25.03%-64.06%, 23.43%-35.53%, and 5.34%-10.44%, respectively. The consistency of the transfer rates between batches indicated that the preparation process was stable. It is suggested that the contents of paeoniflorin, glycyrrhizin, ginsenosides Rg_1 + Re, ginsenoside Rb_1, glycyrrhizic acid, and paeonol in Wenjing Decoction should not be less than 0.52%, 0.35%, 0.15%, 0.10%, 0.63%, and 0.12%, respectively. In this study, we determined the contents and analyzed the quantity transfer process of the index components in Wenjing Decoction, which can provide a basis for the follow-up development of Wenjing Decoction and the quality control of related preparations.
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Cromatografia Líquida de Alta Pressão , Medicamentos de Ervas Chinesas , Ácido Glicirrízico , Pós , Controle de QualidadeRESUMO
In the 1970s, the Framingham study found that smoking increased the risk of stroke. Subsequent laboratory and clinical studies have demonstrated that a variety of harmful components in tobacco can damage the vascular endothelium and interfere with the clotting mechanism, giving rise to atherosclerosis and hypercoagulability, which eventually leads to stroke. Furthermore, the harmful ingredients in tobacco may induce hypertension, diabetes, atrial fibrillation and other diseases, which indirectly increase the risk of stroke. However, there are still a lot of questions about the relationship between smoking and stroke. This paper will analyze the correlation between them and its mechanism, and discuss the influence of smoking cessation on the prognosis of stroke, so as to provide reference for the prevention and treatment of related diseases.
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Objective: To explore the effects of recombinant human calcineurin B (rhCNB) on hepatocellular carcinoma in mice. Methods: An in vivo mouse model with hepatocellular carcinoma was established, and the mice were randomized into the rhCNB, positive control and vehicle treatments groups. Tumor growth was assessed via bioluminescence using a small animal imaging system. Relative tumor proliferation rate and tumor growth inhibition were calculated. The expression of p53 and caspase-9 proteins in tumors were detected by immunohistochemistry. In vitro, flow cytometry was used to quantify the cell-cycle stages and rate of apoptosis. Western blotting and quantitative real-time PCR assays were used to evaluate the effects of rhCNB on protein and gene expression of CDK1, cyclin B1, p53 and caspase-9. Results: rhCNB at the higher dose significantly reduced tumor growth in vivo and caused tumor cell apoptosis in vitro. The rhCNB at the higher dose was as effective as cisplatin, and was safer. Conclusions: rhCNB has potent pro-apoptotic effects on tumor cells in vivo and in vitro and is well tolerated in vivo.
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Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs*28], and c.1067delC[p.A356Efs*123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.
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Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Masculino , Adulto Jovem , Síndrome de Resistência a Andrógenos/genética , Análise Mutacional de DNA , Estudos de Associação Genética , Mutação de Sentido Incorreto , Fenótipo , Receptores Androgênicos/genética , Avaliação de SintomasRESUMO
DMD/BMD is a X-linked recessive hereditary disease.It predominantly affects males.While female carriers do not have symptoms,due to their inactive X chromosome make it present mosaic.Recently,more and more papers reported that a clinically significant proportion of DMD/BMD female carriers have symptoms.They presented variable degrees of symptoms.But the mechanism of the pathogencity is still not clear.Most of the research considered that the dominating reason is the skewed X inactivation.It means that the predominant expression of the DMD mutant allele make the normal one have weak expression,thus no function dystrophin proteins could be generate,manifested as DMD/BMD.In this paper,we mainly summarized the relationship between skewed X inactivation and pathogenicity of the symptomatic DMD female carriers.
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Fertilization is a crucial step for origin of life.During Assisted Reproductive Technologies (ART),total fertilization failure is complex and unpredictable.Total fertilization failure may related to some abnormal cellular mechanistic events,such as:any stage of sperm and cumulus-oocyte-complexes penetration,sperm-zona pellucida binding / penetration,sperm-oocyte membrane binding,oocyte activation,sperm discondensation or pronuclear formation.Most of total fertilization failure could be solved by intracytoplasmic sperm injection.But oocytes of some patient still can't fertilize successfully,even though assisted oocyte activation be used.As for total fertilization failure patients in ART,combining the mature of oocyte,sperm quality and some trail to improve clinical protocol in later cycle may prevent failure to happen again.
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<p><b>OBJECTIVE</b>To explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).</p><p><b>METHODS</b>Peripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.</p><p><b>RESULTS</b>Microarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.</p><p><b>CONCLUSION</b>The genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.</p>
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Feminino , Humanos , Masculino , Cromossomos Humanos Par 10 , Genética , Deformidades Congênitas do Pé , Genética , Testes Genéticos , Deformidades Congênitas da Mão , Genética , Deformidades Congênitas dos Membros , Genética , Mutação , Genética , LinhagemRESUMO
Objective To explore the clinical effect of acupuncture combined with Chinese Medicine in the treatment of ischemic stroke patients with Qi deficiency and blood stasis restoring stage. Methods 180 patients with ischemic stroke in recovery period of Qi deficiency and blood stasis were divided into control group and study group, 90 cases in each group. The control group received conventional rehabilitation therapy, the study group on the basis of routine rehabilitation therapy combined with traditional Chinese medicine and acupuncture. Recorded the change of nerve function pre-treament and after continuous treatment for 1 month. Results There was no significant difference in neurological function between the two groups before treatment. After treatment, the NIHSS scale scores of the two groups were significantly lower than pre-treatment (P<0.05). After treatment, the improvement effect of nerve function in the study group was better than control group (P<0.05). Conclusion The traditional Chinese medicine and acupuncture on the basis of routine rehabilitation therapy in treating patients ischemic stroke in recovery period of Qi deficiency and blood stasis can get ideal clinical effect.