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1.
Chinese Journal of Medical Genetics ; (6): 876-880, 2023.
Article in Chinese | WPRIM | ID: wpr-981840

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of two patients with developmental delay and intellectual disability.@*METHODS@#Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions.@*RESULTS@#Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents.@*CONCLUSION@#The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.


Subject(s)
Humans , Child , Female , Child, Preschool , Intellectual Disability/genetics , Comparative Genomic Hybridization , Chromosome Disorders/genetics , Chromosome Deletion , Magnetic Resonance Imaging , Chromosomes, Human, Pair 22 , Developmental Disabilities/genetics , Carrier Proteins/genetics , Nerve Tissue Proteins/genetics
2.
Chinese Journal of Medical Genetics ; (6): 505-511, 2023.
Article in Chinese | WPRIM | ID: wpr-981779

ABSTRACT

OBJECTIVE@#To explore the genetic basis for fetus with bilateral lateral ventriculomegaly.@*METHODS@#Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship.@*RESULTS@#The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy.@*CONCLUSION@#The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.


Subject(s)
Pregnancy , Female , Humans , Classical Lissencephalies and Subcortical Band Heterotopias , Comparative Genomic Hybridization , DNA Copy Number Variations , Fetus , Hydrocephalus , Prenatal Diagnosis , Chromosome Deletion
3.
Chinese Journal of Medical Genetics ; (6): 408-412, 2023.
Article in Chinese | WPRIM | ID: wpr-981762

ABSTRACT

OBJECTIVE@#To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated.@*RESULTS@#Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting).@*CONCLUSION@#The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.


Subject(s)
Humans , Child , Female , Child, Preschool , Microcephaly/genetics , Developmental Disabilities/genetics , Intellectual Disability/complications , Comparative Genomic Hybridization , Mutation
4.
Chinese Journal of Perinatal Medicine ; (12): 28-34, 2022.
Article in Chinese | WPRIM | ID: wpr-933877

ABSTRACT

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

5.
Chinese Journal of Medical Genetics ; (6): 305-308, 2022.
Article in Chinese | WPRIM | ID: wpr-928407

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic variant in a patient with Usher syndrome.@*METHODS@#Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.@*RESULTS@#The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year.@*CONCLUSION@#The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.


Subject(s)
Child , Female , Humans , Infant, Newborn , Pregnancy , Cadherin Related Proteins , Cadherins/genetics , China , Genetic Testing , Pedigree , Prenatal Diagnosis , Usher Syndromes/genetics
6.
Chinese Journal of Medical Genetics ; (6): 64-67, 2022.
Article in Chinese | WPRIM | ID: wpr-928363

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.@*RESULTS@#The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.@*CONCLUSION@#The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.


Subject(s)
Female , Humans , Adenosine Deaminase/genetics , China , Mutation , Pedigree , Pigmentation Disorders/congenital , RNA-Binding Proteins/genetics
7.
China Journal of Orthopaedics and Traumatology ; (12): 700-704, 2021.
Article in Chinese | WPRIM | ID: wpr-888343

ABSTRACT

OBJECTIVE@#To observe the change of cervical curvature and range of motion (ROM) on imaging at 6 months after Hybrid surgery.@*METHODS@#A total of 29 patients with cervical degenerative disease who underwent Hybrid surgery from January 2017 to July 2018 were retrospectively analyzed. Also, they all met the inclusion criteria and had complete preoperative and 6 months postoperative imaging data. There were 11 males and 18 females, aged from 34 to 76 (55.86±10.69) years, and the operation time was from 2 to 4(3.03±0.51) hours. The Cobb angle method was used to measure the changes of cervical curvature and ROM of C@*RESULTS@#There was no statistically significant difference in C@*CONCLUSION@#Hybrid surgery reconstructs the lordotic curvature of the entire cervical spine and the responsible segment, retains the ROM of the cervical replacement segment, and restores the biomechanical function of cervical spine.


Subject(s)
Female , Humans , Male , Cervical Vertebrae/surgery , Diskectomy , Range of Motion, Articular , Retrospective Studies , Spinal Fusion
8.
China Journal of Orthopaedics and Traumatology ; (12): 80-85, 2021.
Article in Chinese | WPRIM | ID: wpr-879410

ABSTRACT

OBJECTIVE@#To investigate the clinical effect of anterior cervical Hybrid surgery in the treatment of cervical degenerative diseases (CDD) and observe the incidence of heterotopic ossification of disc replacement segment at 1 year after surgery.@*METHODS@#From January 2015 to April 2018, 35 patients who received anterior cervical hybrid surgery met the inclusion and exclusion criteria and the complete clinical follow up data were analyzed retrospectively. Complete imaging follow-up data were obtained from 24 patients. There were 15 males and 20 females, aged from 39 to 70(55.57±7.73) years old. The amount of bleeding was for 20 to 100 (40.29±18.39) ml, and the hospitalstay was for 4 to 28(11.03±4.63) days, and the follow-up time was(12.97±1.36) months. Clinical outcomes were assessed by the Tanaka Yasushi cervical spondylitis symptom scale 20 score (YT20), and Japanese Orthopaedic Association (JOA) score. The occurrence of heterotopic ossification after Hybrid surgery was evaluated by X-ray according to McAfee standard one year after operation. Patients with or without heterotopic ossificationwere divided into two groups and their clinical effects were compared.@*RESULTS@#At the final follow up, the mean YT20 score and JOA score were significantly higher than those before operation (P <0.05), and the average improvement rate of JOA was (70.66 ±0.44)%. One year after operation, the heterotopic ossification occurred in 10 of 24 segments, with incidence of 41.70%(10/24), including 29.20% in gradeⅠand 12.50% in gradeⅡ. The results of clinical efficacy comparison between patients with and without heterotopic ossification were as follows:there was no significant difference in JOA score before and after operation (@*CONCLUSION@#The short-term clinical effect of Hybrid surgery is satisfactory for cervical degenerative diseases, and the cause of heterotopic ossification still needs tobe further explored.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cervical Vertebrae/surgery , Follow-Up Studies , Intervertebral Disc Degeneration/surgery , Range of Motion, Articular , Retrospective Studies , Total Disc Replacement , Treatment Outcome
9.
Chinese Journal of Medical Imaging Technology ; (12): 618-621, 2020.
Article in Chinese | WPRIM | ID: wpr-861069

ABSTRACT

The etiology of autism spectrum disorder (ASD) is not yet clear. SPECT and PET can be used to study the neurobiology mechanism of ASD by non-invasive quantification of cerebral blood flow, glucose metabolism and protein metabolism. The recent research progresses on SPECT and PET of ASD were reviewed in this article.

10.
Chinese Journal of Orthopaedics ; (12): 97-102, 2020.
Article in Chinese | WPRIM | ID: wpr-799611

ABSTRACT

Objective@#To provide experimental evidence for genetic counseling and prenatal molecular diagnosis by analyzing the clinical characteristics and screening for pathogenic genes of a five-generation suspected multiple epiphyseal dysplasia (MED) family (17 patients).@*Methods@#The family members' medical history, general physical examination and hip joint X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA were extracted from these samples. The exons of clinical genes from probands' DNA were sequenced by High throughput sequencing method. Next Gene software was used to compare and analyze the sequence and INGENUITY software was further used to annotate the mutations in order to find the pathogenic mutations in probands. The suspicious mutations were confirmed in pedigree members by PCR and Sanger sequencing.@*Results@#The family consisted of 5 generations and 38 members. Pedigree analysis was consistent with autosomal dominant inheritance. There were 17 patients in the family, and their clinical manifestations showed abnormal walking posture in childhood, pain in hip and knee joints, and typical pathological changes of epiphyseal dysplasia on X-ray. Cartilage oligomeric matrix protein (COMP) gene c.1153G>A (p.Asp385Asn) missense heterozygous mutation was screened in proband, which was genotypically and phenotypically segregated in the pedigree.@*Conclusion@#A missense mutation of the comp gene has been identified in a pedigree affected with MED which was the first reported in a big family. Our result is conducive to the further diagnosis and treatment and also provides a molecular basisfor the future prenatal diagnosis.

11.
Chinese Journal of Medical Genetics ; (6): 153-155, 2020.
Article in Chinese | WPRIM | ID: wpr-781277

ABSTRACT

OBJECTIVE@#To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).@*METHODS@#PCR and Sanger sequencing was carried out for the patient and her parents.@*RESULTS@#The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination. Compound heterozygous variants of the ARSA gene, namely c.960G>A and c.244C>T, were detected in the patient, for which her mother and father were respectively heterozygous carriers. ARSA c.960G>A was known to be pathogenic, while ARSA c.244C>T was a novel variant. The same variants were not detected among 50 healthy controls.@*CONCLUSION@#The compound heterozygous variants c.960G>A and c.244C>T of the ARSA gene probably underlie the MLD in this patient.

12.
Chinese Journal of Medical Genetics ; (6): 1261-1264, 2020.
Article in Chinese | WPRIM | ID: wpr-879481

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).@*METHODS@#Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing. The results were confirmed by Sanger sequencing.@*RESULTS@#DNA sequencing suggested that the proband has carried a heterozygous c.1196C>G variant in exon 9 of the SPAST gene, which can cause substitution of serine by threonine at position 399 (p.Ser399Trp) and lead to change in the protein function. The same variant was also detected in other patients from the pedigree but not among unaffected individuals or the 50 healthy controls. Based on the ACMG 2015 guidelines, the variant was predicted to be possibly pathogenic.@*CONCLUSION@#The c.1196C>G variant of the SPAST gene probably underlay the HSP4 in this pedigree.


Subject(s)
Humans , Base Sequence , Mutation , Paraplegia/genetics , Pedigree , Sequence Analysis, DNA , Spastic Paraplegia, Hereditary/genetics , Spastin/genetics
13.
Chinese Journal of Dermatology ; (12): 363-365, 2020.
Article in Chinese | WPRIM | ID: wpr-870291

ABSTRACT

A female patient aged 7 years and 5 months presented with multiple skin defects of the scalp, ears, hands and in the sacrococcygeal region, and multiple joint flexion contractures of the extremities for more than 7 years. Skin examination showed skin defects of the scalp, auricles, hands and in the sacrococcygeal region, gingival swelling, and multiple joint flexion contractures of the extremities. Genetic testing of the peripheral blood revealed 2 compound heterozygous mutations c.1073delC (A359Lfs*51) and c.1073dupC (A359Cfs*13) in the anthrax toxin receptor-2 ( ANTXR2) gene in the patient, which were inherited from her mother and father respectively. The patient was diagnosed with hyaline fibromatosis syndrome. Surgical treatment was rejected, and anti-inflammatory drugs, analgesics and other drugs were administered for symptomatic treatment. During follow-up of half a year, the child occasionally had mild diarrhea, and other symptoms did not progress markedly.

14.
Chinese Journal of Orthopaedics ; (12): 97-102, 2020.
Article in Chinese | WPRIM | ID: wpr-868951

ABSTRACT

Objective To provide experimental evidence for genetic counseling and prenatal molecular diagnosis by analyzing the clinical characteristics and screening for pathogenic genes of a five-generation suspected multiple epiphyseal dysplasia (MED) family (17 patients).Methods The family members' medical history,general physical examination and hip joint X-ray examination were collected.Peripheral blood samples of the family members were collected and DNA were extracted from these samples.The exons of clinical genes from probands' DNA were sequenced by High throughput sequencing method.Next Gene software was used to compare and analyze the sequence and INGENUITY software was further used to annotate the mutations in order to find the pathogenic mutations in probands.The suspicious mutations were confirmed in pedigree members by PCR and Sanger sequencing.Results The family consisted of 5 generations and 38 members.Pedigree analysis was consistent with autosomal dominant inheritance.There were 17 patients in the family,and their clinical manifestations showed abnormal walking posture in childhood,pain in hip and knee joints,and typical pathological changes of epiphyseal dysplasia on X-ray.Cartilage oligomeric matrix protein (COMP) gene c.1153G > A (p.Asp385Asn) missense heterozygous mutation was screened in proband,which was genotypically and phenotypically segregated in the pedigree.Conclusion A missense mutation of the comp gene has been identified in a pedigree affected with MED which was the first reported in a big family.Our result is conducive to the further diagnosis and treatment and also provides a molecular basisfor the future prenatal diagnosis.

15.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 79-84, 2019.
Article in Chinese | WPRIM | ID: wpr-802423

ABSTRACT

Objective: To observe the efficacy of umbilical moist-heat application of modified Da Chengqitang in treating ventosity after noninvasive ventilation, and the regulatory effect on level of gastrointestinal motility hormone. Method: One hundred and sixty patients were randomly divided into control group and observation group by random number table. Patients in control group got mosapride citrate tablets, 5 mg/time, 3 times/days. In addition tothe therapy in control group, patients in observation group was also given mbilical moist-heat application of modified Da Chengqitang, 30 min/time, 2 times/day. And a course of treatment was 7 days. Before and after treatment, degree of abdominal distention was measured by a tape and subjective evaluation. Time of recovery of bowel sounds, remission of abdominal distention, exhausting and defecation, and the total time of using respirator, pressure of using respirator, and the total days of using respirator were recorded. And levels of gastrin (GAS), motilin (MTL), vasoactive intestinal peptide (VIP) and somatostatin (SS) were detected. Result: According to the rank sum test, the clinical effect in observation group was superior to that in control group (Z=2.484, PZ=2.456, PPPPP2, PaCO2, GAS, MTL were higher than those in control group, whereas PaCO2, VIP and SS were lower than those in control group (PPConclusion: Umbilical moist-heat application of modified Da Chengqitang can relieve abdominal distention and dyspnea, reduce intraperitoneal pressure, improve the recovery of gastrointestinal function, and regulate gastrointestinal hormone level.

16.
Chinese Journal of Medical Genetics ; (6): 1022-1024, 2019.
Article in Chinese | WPRIM | ID: wpr-796472

ABSTRACT

Objective@#To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).@*Methods@#Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*Results@#The fetus was found to carry compound heterozygous variants c. 1440+ 1G>A and c. 925G>T of the NPHS1 gene, which were respectively inherited from its mother and father.@*Conclusion@#Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.

17.
Chinese Journal of Medical Genetics ; (6): 606-609, 2019.
Article in Chinese | WPRIM | ID: wpr-771957

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic mutations in a patient with mucolipidosis type II α/β by using next generation sequencing.@*METHODS@#Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method. The patient was subjected to targeted sequencing using an Ion Ampliseq panel, which included genes related to mucolipidosis and mucopolysaccharidosis. Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Compound heterozygous mutations, namely c.1284+1G>T and c.1090C>T (p.Arg364*), were detected in the patient, which were respectively inherited from her mother and father. No other disease-causing mutation was detected in the patient. GNPTAB c.1090C>T was known to be pathogenic, while GNPTAB c.1284+1G>T is a novel mutation. The same mutations were not detected among 50 healthy controls.@*CONCLUSION@#The compound heterozygous mutations c.1284+1G>T and c.1090C>T (p.Arg364*) of GNPTAB gene probably account for the mucolipidosis type II α/β in the patient. NGS has a great value for the molecular diagnosis and typing of mucolipidosis.


Subject(s)
Female , Humans , High-Throughput Nucleotide Sequencing , Mucolipidoses , Genetics , Mutation , Transferases (Other Substituted Phosphate Groups) , Genetics
18.
Chinese Journal of Medical Genetics ; (6): 701-703, 2019.
Article in Chinese | WPRIM | ID: wpr-776826

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Bartter's syndrome (BS).@*METHODS@#Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient. Suspected mutation was validated in her family members.@*RESULTS@#No pathogenic mutation was detected by NGS, while a 0.152 Mb microdeletion at Xp11.21 (54 834 585-54 986 301) was found in the male fetus, which removed the entire coding region of the MAGED2 gene. His mother was a heterozygous carrier of the deletion. His father and sister did not carry the same deletion.@*CONCLUSION@#The loss of the MAGED2 gene may underlie the BS in this pedigree.


Subject(s)
Female , Humans , Male , Adaptor Proteins, Signal Transducing , Genetics , Antigens, Neoplasm , Genetics , Bartter Syndrome , Genetics , Genetic Testing , Heterozygote , Mutation , Pedigree , Sequence Deletion
19.
Chinese Journal of Medical Genetics ; (6): 1022-1024, 2019.
Article in Chinese | WPRIM | ID: wpr-776752

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).@*METHODS@#Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father.@*CONCLUSION@#Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.


Subject(s)
Female , Humans , Pregnancy , Fetus , Finland , Heterozygote , Membrane Proteins , Genetics , Nephrotic Syndrome , Diagnosis , Prenatal Diagnosis
20.
China Journal of Orthopaedics and Traumatology ; (12): 30-36, 2018.
Article in Chinese | WPRIM | ID: wpr-259793

ABSTRACT

<p><b>OBJECTIVE</b>To compare the clinical effect between spinal card decompression combined with traditional Chinese medicine and simple spinal card decompression for cervical spondylotic myelopathy.</p><p><b>METHODS</b>From June 2012 to June 2015, 73 patients with cervical spondylotic myelopathy were treated, including 42 males and 31 females, aged from 29 to 73 years old with a mean of 50.9 years old. The patients were divided into the simple operation group (34 cases) and the operation combined with traditional Chinese medicine group(39 cases) according to the idea of themselves. The anterior discectomy or subtotal corpectomy with internal fixation or posterior simple open-door decompression with lateral mass screw fixation were performed in the patients. Among them, 39 cases were treated with traditional Chinese medicine after surgery. The Japanese orthopedic association (JOA) score of spinal cord function, the improvement rate of neural function, the neck dysfunction index (NDI) score and the governor vessel stasis syndrome score were compared between two groups preoperative and postoperative 1 week, 1 month and the final follow-up respectively. The internal fixation and the condition of spinal cord decompression were observed by CT, MRI and X-rays before and after operation.</p><p><b>RESULTS</b>All the operations were successful, no injuries such as dura mater, spinal cord and nerve root were found. All the wounds were healed without infection except one patient had a superficial infection. It was solved after intermittent debridement and anti-infective therapy. Hematoma occurred in 1 case, complicated with spinal cord compression, caused incomplete paralysis, and promptly performed the re-operation to remove the hematoma without any obvious sequelae. All the patients were followed up from 12 to 24 months, (14.6±0.8) months for simple operation group and (13.5±0.7) months for operation combined with traditional Chinese medicine group, and there was no significant difference(>0.05). The scores of JOA, NDI and the governor's vessel stasis syndrome in simple operation group were 8.31±3.15, 29.91±4.52, 6.58±1.31 before operation, and 10.21±2.58, 18.67±4.31, 8.24±1.18 one week after operation, and 11.38±2.85, 16.11±3.18, 8.91±2.11 one month after operation, and 12.21±3.12, 14.61±3.28, 9.12±1.56 at final follow-up, respectively; and in operation combined with traditional Chinese medicine group were 8.29±3.47, 30.83±4.14, 6.38±1.81before operation, and 10.48±2.39, 17.59±5.14, 8.33±1.57 one week after operation, and 12.14±3.12, 13.14±3.21, 9.55±2.49 one month after operation, and 13.85±3.34, 12.11±2.51, 10.33±1.95 at final follow-up, respectively. Postoperative JOA , NDI, and the governor vessel stasis syndrome score of two groups were significantly higher than preoperativee(<0.05). There was no significant difference in JOA, NDI, and the governor vessel stasis syndrome score between two groups one week after operation (>0.05). The above items in operation combined with traditional Chinese medicine group was better than that of simple operation group one month and final follow-up after operation (<0.05). The improvement rate of neural function in simple operation group was (67.59±10.78)%, and in operation combined traditional Chinese medicine group was (66.88±12.15)%, there was no significant difference between two groups(>0.05). There were no complications such as internal fixation failure or re-dislocation of atlas by postoperative CT, MRI and X-rays examination.</p><p><b>CONCLUSIONS</b>Spinal card decompression for the treatment of cervical spondylotic myelopathy can extend the spinal canal, relieve the compression of nerve, achieve the deoppilation of governor vessel, the regulation of qi and blood, the restore of Yangqi, combined with traditional Chinese medicine of activating blood removing stasis, warming yang and activating meridians, reinforcing liver benefiting kidney, which may obtain better clinical effect.</p>

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