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Objective:To study the clinical and laboratory characteristics of neonatal isolated sulfite oxidase deficiency (ISOD).Methods:An infant with neonatal ISOD admitted to our hospital was retrospectively analyzed. Using key words "isolated sulfite oxidase deficiency", "SUOX gene", "Infant, newborn", databases including CNKI, Wanfang database, National library and literature center of science and technology, China science paper online, PubMed, Web of Science and EMBASE (up to January 2021) were searched and literature review was conducted. The clinical manifestations, laboratory results, treatment and prognosis were analyzed.Results:Our patient was a full-term male infant with eye movement disorder, refractory seizures, feeding difficulties, increased muscle tone, developmental retardation and microcephaly. Urine sulfite paper-strip test was positive. Uric acid was normal. Whole exon sequencing (WES) revealed SUOX c.475G>T and c.1201A>G compound heterozygous mutations. Cranial MRI showed multiple encephalomalacia and brain atrophy at 5-month of age. The infant died at 8-month. In the literature review, a total of 29 articles and 32 cases of neonatal ISOD were found. 87.5% of the cases developed symptoms within 1-week after birth. All had convulsive seizures. Some of them had feeding difficulties, muscle tone changes, developmental retardation, microcephaly and ectopia lentis. Cranial imaging showed white matter cystic lesions and brain atrophy. Laboratory examination showed elevated urinary sulfite and S-sulfocysteine. Uric acid and xanthine/hypoxanthine were normal. Blood homocysteine was decreased. 23 cases received genetic testing and all of them had SUOX mutations. The treatment was mainly symptomatic relief and supportive treatment. During follow-up, 15 cases died, 13 cases survived and 4 cases were unknown. All the surviving children had drug-resistant convulsions and developmental retardation.Conclusions:Neonatal ISOD may present with refractory convulsions, feeding difficulties and developmental retardation. Cystic white matter changes and brain atrophy may be seen on cranial imaging. Elevated urinary sulfites, decreased blood homocysteine and normal uric acid are important clues for diagnosis. Genetic testing is helpful for early diagnosis.
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OBJECTIVE@#To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.@*METHODS@#Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene.@*RESULTS@#The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported.@*CONCLUSION@#The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Subject(s)
Child , Female , Humans , Male , Amino Acid Metabolism, Inborn Errors/genetics , Heterozygote , Isovaleryl-CoA Dehydrogenase/genetics , MutationABSTRACT
OBJECTIVE@#To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency.@*METHODS@#Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene.@*RESULTS@#The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously.@*CONCLUSION@#Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
Subject(s)
Aged , Humans , Male , Factor V , Factor V Deficiency , Genetics , Genetic Variation , Heterozygote , Mutation , Pedigree , PhenotypeABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).</p><p><b>METHODS</b>Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene.</p><p><b>RESULTS</b>Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients.</p><p><b>CONCLUSION</b>Genetic testing can play an important role in the diagnosis of CHS.</p>
Subject(s)
Female , Humans , Infant , Infant, Newborn , Chediak-Higashi Syndrome , Genetics , Genetic Testing , Mutation , Pedigree , Vesicular Transport Proteins , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the effects of siRNAs targeting CD97 immune epitopes on proliferation, infiltration, apoptosis and cell cycle of breast cancer cells.</p><p><b>METHODS</b>siRNA sequences targeting CD97and CD97immune epitopes were designed according to Gene Bank NM_001025160.2 with smart siCatchsiRNA design software. CD97siRNAs were transfected into MDA-MB231 cells in which CD97 was highly expressed. Highest sensitive CD97and CD97siRNA were screened by Western blotting. Inverted microscope was used to observe the growth of CD97siRNAs-transfected MDA-MB231 cells; the proliferation activity of MDA-MB231 cells was detected by MTT method; the wound healing assay and Transwell migration test were performed to examine the migration and infiltration ability of CD97and CD97siRNA-transfected MDA-MB231 cells; the effects of CD97siRNA and CD97siRNA on cell apoptosis and cell cycle of MDA-MB231 cells were detected by TUNEL and flow cytometry.</p><p><b>RESULTS</b>The growth and proliferation activity of CD97siRNAs-transfected MDA-MB231 cells were significantly lower than those in the control groups, and such differences were more significant in CD97siRNA-transfected group (all<0.05); scratch test showed that the wound healing rate was lower in CD97siRNAs-transfected groups, especially in CD97siRNA-transfected group (all<0.05); Transwell migration showed that the number of MDA-MB231 cells crossing through chambers were less in CD97siRNAs-transfected groups, especially in CD97siRNA-transfected group (all<0.05); no significant difference in cell apoptosis was observed between CD97siRNAs-transfected groups and control groups; cell cycle detection showed that CD97siRNAs-transfected groups had less cells in G/Gphase and more cells in S phase compared with the control groups, and such effect on cell cycle was more marked in CD97siRNA-transfected group (all<0.05).</p><p><b>CONCLUSIONS</b>CD97 plays an important role in the cell growth, proliferation, migration and invasion of breast cancer MDA-MB231 cells, and compared with CD97, CD97may have more effective inhibitory effects on cellular malignant behaviors.</p>
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Objective To study the clinical characteristics of neonatal pertussis.Method From January 2011 to December 2015,clinical data of newborns with pertussis treated in our hospital were retrospectively analyzed,including the general information,clinical manifestations,laboratory examinations,treatment and prognosis.Result A total of 68 newborns with pertussis were found during the study period,including 1 case in 2011,5 cases in 2012,1 case in 2013,18 cases in 2014 and 43 cases in 2015.The time needed for diagnosis was 7 to 35 days after onset of symptoms,and 80.9％ (55/68) in 14 days.The predominant manifestation was paroxysmal cough (68 cases,100％).Other common symptoms included flushing in 45 cases (66.2％) and cyanosis with coughing in 40 cases (58.8％).The uncommon symptoms included whooping cough (20 cases,29.4％),wheezing (10 cases,14.7％),fever (3 cases,4.4％) and apnea with decreased heart rate during cough (2 cases,2.9％).12 patients (17.6％) had elevated peripheral white blood cells or lymphocytes.The clinical manifestations didn't disappear despite erythromycin therapy,and the whooping cough continued for 12 to 42 days during the course of disease.22 cases (32.4％) had complications,including pneumonia in 12 cases,myocardial damage in 10 cases,heart failure in 2 cases,respiratory failure in 1 case,atrial tachycardia in 1 case and lung consolidation in 1 case.Conclusion Neonatal pertussis is not uncommon and has a tendency to increase year by year,and it's challenging for early diagnosis.The patients who have a whooping cough without fever should be considered of pertussis until otherwise ruled out.Leukocyte and lymphocyte count are of little value in the diagnosis of this disease.
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To explore the therapeutic efficacy of extracorporeal shock wave (ESW) for persistent heel pain.A total of 98 patients of persistent heel pain were randomly divided into ESW treatment and control groups (n =49 each).Treatment group had ESW while control group received infrared physical therapy.And their visual analogue scale (VAS) scores were assessed.After one course of treatment, VAS heel pain and function scores were (39.6 ± 6.2) and (25.1 ± 4.6) in ESW group versus (32.3 ± 6.5) and (17.4 ±7.2) in control group.And before treatment, (16.5 ±4.6) and (14.4 ±8.6), (16.1 ±4.7) and (14.6 ± 8.4) respectively.Heel pain significantly decreased with functional improvement (all P ＜ 0.05).After one course, the effective rate was 65％ (32/49) in treatment group.And the improvement rate of 31％ (15/49) was better than control group [27％ (13/49) and 63％ (31/49)] (all P ＜ 0.05).ESW treatment of persistent heel pain was more efficacious than physical therapy and it could be applied clinically.
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BACKGROUND:Excessive lateral pressure syndrome is often associated with lateral retinacular tension and radiographic patel ar tilt. CT scan displayed that lateral retinacular release can effectively correct patel ar tilt. OBJECTIVE:To study the effect of arthroscopic lateral retinacular release combined with intraosseous dril ing and decomposition in the treatment of excessive lateral pressure syndrome. METHODS:Thirty-two patients with excessive lateral pressure syndrome were treated by arthroscopic lateral release combined with intraosseous dril ing and decomposition. The Lysholm scoring system was used to evaluate the treatment effect. RESULTS AND CONCLUSION:The mean duration of fol ow-up was 12 months. After 1 month, pain of al patients was released or disappeared;after 1 year, pain of 26 cases disappeared basical y. Lysholm scoring system assessment showed 20 cases were rated as excellent, six cases were as good, four cases were as fair and two cases were as poor. The excellent and good rate was 83.6%. The patients’ subjective satisfaction rate was 92.8%. The results indicate that arthroscopic lateral release combined with intraosseous dril ing and decomposition is a good method to treat excessive lateral pressure syndromewere. It has the advantages of less trauma and rapid recovery. Patel ar decomposition has a good effect in the treatment of patel ofemoral pain associated with patel ar tilt outward and lightens articular cartilage degeneration without damage to patel ar cartilage surface.
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0.05). The positive rate of the SE in rats experiencing longer arthritis duration (≥4 weeks) was significantly higher than that with shorter arthritis duration (