scholarly journals 245 Arrhythmogenic cardiomyopathy in children according to ‘padua criteria’: single paediatric centre experience

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Marianna Cicenia ◽  
Nicoletta Cantarutti ◽  
Rachele Adorisio ◽  
Massimo Stefano Silvetti ◽  
Aurelio Secinaro ◽  
...  
Keyword(s):  
Incidental Finding ◽  
Positive Family History ◽  
Holter Monitoring ◽  
Compound Heterozygous ◽  
Arrhythmogenic Cardiomyopathy ◽  
Eligibility Criteria ◽  
Therapeutic Decisions ◽  
Paediatric Age ◽  
Compound Heterozygous Variants

Abstract Aims Arrhythmogenic cardiomyopathy (ACM) is a rare disease in children. The purpose of this study is to describe the main features of our paediatric patients with ACM providing a contribution for diagnostic work-up and therapeutic decisions. Methods and results Eligibility criteria of the study was ACM diagnosed at age <18 years old. We enrolled 21 patients (mean age at diagnosis 13.9 ± 2 years). Holter monitoring showed premature ventricular complexes (PVCs) burden of 7.9 ± 10% (range: 1–35%). Exercise testing showed suppression of PVCs during exercise in most patients (44.4%). Cardiac magnetic resonance was performed in 17/21 (81%) patients. Right ventricular (RV) dilatation, segmental wall motion abnormalities, and late gadolinium enhancement of both ventricles were the predominant features. Genetic results were available in 19/21 patients. 3/19 (15.8%) had compound heterozygous variants, 3/19 (15.8%) digenic variants, and 6/19 (31.6%) a single variant. EPS was performed in 15/21 (75%). Ventricular tachycardia was inducible in 3/15 (20%) and ventricular fibrillation occurred in 1/15 (6.7%). Implantable cardiac defibrillators (ICDs) were implanted in 15 patients (71.4%). ICD therapies were released in two patients during follow-up (2009–2021). No patients died suddenly. Conclusions Paediatric ACM can be diagnosed in the majority of cases secondary to: incidental finding of minor arrhythmias or due to positive family history. PVCs burden is not elevated and exercise-induced arrhythmias occur in a minority of patients. ICD may be indicated in most patients even if follow-up during the paediatric age can be reassuring. Multicentric observation is highly needed to derive conclusions in children.

scholarly journals A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Cong Zhou ◽  
Yuanyuan Xiao ◽  
Hanbing Xie ◽  
Shanling Liu ◽  
Jing Wang
Keyword(s):  
Hearing Loss ◽  
Prenatal Diagnosis ◽  
Usher Syndrome ◽  
Chinese Patient ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Compound Heterozygous Variants ◽  
Gene Panels

Abstract Background Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prenatal diagnosis of the patient's mother. Case presentation Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the hearing loss-targeted gene panels. We identified the compound heterozygous variants c.8559-2A>G and c.4749delT in Usher syndrome type 2A (USH2A) gene as the underlying cause of the patient; the former variation has been reported in the literature, but not the latter. The parents of the girl were heterozygous carriers. The two variants were classified as pathogenic. Based on these findings, amniotic fluid samples were used for prenatal diagnosis of the couple's fetus, which was found to carry c.4749delT but not c.8559-2A>G variation. During the follow-up period of more than 9 months after the birth of the fetus, it was confirmed that the infant was healthy. Conclusions The results of the present study identified two compound heterozygous USH2A variants in a patient with hearing loss and reported a novel USH2A variant which expands the spectrum of USH2A variants in USH.

scholarly journals Newborn Screening in Unselected Children Using Genomic Sequencing

2021 ◽  
Author(s):  
Min Jian ◽  
Xiaohong Wang ◽  
Yuanyuan Sui ◽  
Mingyan Fang ◽  
Ya Gao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Methylmalonic Acidemia ◽  
Genomic Sequencing ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Pathogenic Variants ◽  
Disease Associated Genes ◽  
Compound Heterozygous Variants ◽  
High Depth

Abstract Background: The aim of this study is to investigate potentially curable or treatable medical conditions in unselected newborns using genomic sequencing(GS). Methods: 321 newborns from a cohort of pregnant women from Qingdao, China, underwent high-depth GS (average 47.42 fold), with the approval of the ethics committee. 61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. Results: 121 Mendelian pathogenic or likely pathogenic variants associated with 31 inherited diseases were detected, among these hearing loss, congenital hypothyroidism, methylmalonic acidemia, methylmalonic acidemia with homocystinuria, phenylketonuria(PKU) and benign hyperphenylalaninemia accounted for half of the carrier variants. Three children with compound heterozygous variants at GJB2 and PAH were confirmed by Sanger sequencing. Follow-up of the three families confirmed that one child was diagnosed with PKU and two children with GJB2 variants were scheduled to undergo hearing loss testing every six months after genetic counceling due to the nature of incomplete penetrance of hearing loss. 11 heterozygous pathogenic/ likely pathogenic variants in eight PID genes were identified in 11 infants. All 321 newborns carried at least one variant at the five DPGW recommended PGx genes. Codeine and clopidogrel require more attention in giving prescription for 25% and 8% of newborns have a decreased function of CYP2D6 and CYP2C19 enzymes respectively. Conclusions: Our study is the largest to date using GS to sequence unselected newborns. The results suggest that using GS may be a suitable method for screening newborns for variants in a large number of disease associated genes.

scholarly journals The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China

2021 ◽  
Author(s):  
Shuang Hu ◽  
Lina Liu ◽  
Zhihui Jiao ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Methylmalonic Aciduria ◽  
Compound Heterozygous ◽  
Chorionic Villus Sampling ◽  
Prenatal Genetic Diagnosis ◽  
Heterozygous Variant ◽  
Compound Heterozygous Variants

Abstract To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees. Gene analyses were performed for 244 pedigrees. There are 130 families, chorionic villus sampling was performed on the pregnant women to conduct the prenatal diagnosis. Among 244 patients, 168 (68.9%) cases were combined methylmalonic aciduria and homocystinuria, 76 (31.1%) cases were isolated methymalonic aciduria. All the patients were diagnosed with MMA by their clinical manifestation, elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and/or urine/blood methylmalonic acid with or without hyperhomocysteinemia. MMACHC, MUT, SUCLG1 and LMBRD1 gene variants were found in 236 (96.7%) pedigrees included 6 probands with only one heterozygous variant out of 244 cases. For the 130 pedigrees who received a prenatal diagnosis, 22 foetuses were normal, 69 foetuses were carriers of heterozygous variants, and the remaining 39 foetuses harboured compound heterozygous variants or homozygous variants. The follow-up results were consistent with the prenatal diagnosis. The present study indicates genetic heterogeneity in MMA patients. Genetic analysis is a convenient method for prenatal diagnosis that will aid in avoiding the delivery of MMA patients.

Effectiveness of arthroscopic management of idiopathic shoulder stiffness: A meta-analysis

2021 ◽  
pp. 1-8
Author(s):  
Ya-Dong Wang ◽  
Yu-Xiang Ming ◽  
Yong-Hua Pang ◽  
Wei-Nan Chen ◽  
Xu-Hua Zong ◽  
...  
Keyword(s):  
Range Of Motion ◽  
External Rotation ◽  
Meta Analysis ◽  
Eligibility Criteria ◽  
Shoulder Stiffness ◽  
Capsular Release ◽  
Shoulder Range Of Motion ◽  
Arthroscopic Capsular Release ◽  
Shoulder Range

BACKGROUND: Persisting shoulder stiffness adversely affects quality of life by causing pain and motion restrictions especially in patients with diabetes. OBJECTIVE: The aim of this study was to evaluate the outcomes of arthroscopic capsular release in patients with idiopathic shoulder stiffness. METHOD: A literature search was conducted in electronic databases and studies were selected by following precise eligibility criteria. Random-effects meta-analyses were performed to estimate the changes at latest follow-up in scores of the Constant, American Shoulder and Elbow Surgeons (ASES), and University of California at Los Angelis (UCLA) scales, Visual Analogue Scale (VAS), and shoulder range of motion. RESULTS: Nineteen studies were included. The follow-up duration was 42 months [95% confidence interval (CI): 32, 51]. Improvements in scores of the Constant, ASES, UCLA scales, and VAS were 48.3 [95% CI: 38.0, 58.6], 44.6 [95% CI: 24.6, 64.6], 19.3 [95% CI: 16.6, 22.0], and -6.1 [95% CI: -6.9, -5.4] respectively (P< 0.05 all). Improvements in the shoulder range of motion were: abduction 82.0 [95% CI: 65.0, 98.9]; forward flexion 75.9 [95% CI: 59.7, 92.1]; external rotation 43.2 [95% CI: 37.5, 49.0]; and internal rotation 25.4 [95% CI: 15.2, 35.5] degrees; P< 0.05 all). CONCLUSION: Arthroscopic capsular release effectively improves shoulder function in patients with idiopathic shoulder stiffness.

scholarly journals Novel ARG1 variants identified in a patient with arginase 1 deficiency

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Katsuyuki Yokoi ◽  
Yoko Nakajima ◽  
Toshihiro Yasui ◽  
Makoto Yoshino ◽  
Tetsushi Yoshikawa ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Arginase Activity ◽  
Compound Heterozygous ◽  
Measurement Sensitivity ◽  
Protein Core ◽  
Arginase 1 ◽  
Conserved Domain ◽  
New Variant ◽  
Compound Heterozygous Variants

AbstractWe report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

scholarly journals Partial pulpotomy without age restriction: a retrospective assessment of permanent teeth with carious pulp exposure

2021 ◽  
Author(s):  
Florin Eggmann ◽  
Thomas J. W. Gasser ◽  
Hanjo Hecker ◽  
Mauro Amato ◽  
Roland Weiger ◽  
...  
Keyword(s):  
Survival Rates ◽  
Age Groups ◽  
Permanent Teeth ◽  
Eligibility Criteria ◽  
Presumptive Diagnosis ◽  
Tooth Discoloration ◽  
Significant Difference ◽  
Pulp Exposure ◽  
The Mean

Abstract Objectives This study aimed to retrospectively evaluate clinical and radiographic outcomes of partial pulpotomy performed in permanent teeth with carious pulp exposure. Materials and methods Records of patients undergoing treatment at an undergraduate dental clinic between 2010 and 2019 were screened for partial pulpotomies in teeth with a presumptive diagnosis of normal pulp or reversible pulpitis. The follow-up had to be ≥ 1 year. Patient data were retrieved and analyzed using Mantel-Cox chi square tests and Kaplan–Meier statistics. The level of significance was set at α = 0.05. Results Partial pulpotomy was performed in 111 cases, of which 64 (58%) fulfilled the eligibility criteria. At the time of partial pulpotomy, the mean age was 37.3 (± 13.5) years (age range 18–85). The mean observation period was 3.1 (± 2.0) years. Two early failures (3.1%) and five late failures (7.7%) were recorded. The overall success rate of maintaining pulp vitality was 89.1%, with 98.4% tooth survival. The cumulative pulp survival rates of partial pulpotomy in patients aged < 30 years, between 30 and 40 years, and > 40 years were 100%, 75.5%, and 90.5%, respectively, with no significant difference between the age groups (p = 0.225). At follow-up, narrowing of the pulp canal space and tooth discoloration were observed in 10.9% and 3.1% of cases, respectively. Conclusions Across age groups, partial pulpotomy achieved favorable short and medium-term outcomes in teeth with carious pulp exposure. Clinical relevance Adequate case selection provided, partial pulpotomy is a viable operative approach to treat permanent teeth with deep carious lesions irrespective of patients’ age.

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