1,247 results match your criteria de Lange Syndrome


The interplay of landscape composition and configuration: new pathways to manage functional biodiversity and agroecosystem services across Europe.

Ecol Lett 2019 Apr 7. Epub 2019 Apr 7.

Department of Animal Ecology and Tropical Biology, Biocenter, University of Würzburg, Am Hubland, 97074, Würzburg, Germany.

Managing agricultural landscapes to support biodiversity and ecosystem services is a key aim of a sustainable agriculture. However, how the spatial arrangement of crop fields and other habitats in landscapes impacts arthropods and their functions is poorly known. Synthesising data from 49 studies (1515 landscapes) across Europe, we examined effects of landscape composition (% habitats) and configuration (edge density) on arthropods in fields and their margins, pest control, pollination and yields. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ele.13265DOI Listing
April 2019
1 Read

First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.

J Clin Pathol 2019 Apr 4. Epub 2019 Apr 4.

Centro di Ricerca Tettamanti, Clinica Pediatrica, Università di Milano, Bicocca, Monza, Italy

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. Germline mutations of cohesin complex genes , , or their regulators and have been identified in CdLS as well as somatic mutations in myeloid disorders. We describe the first case of a paediatric patient with CdLS with B-cell precursor Acute Lymphoblastic Leukaemia (ALL). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jclinpath-2019-205707DOI Listing
April 2019
3 Reads

Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.

J Autism Dev Disord 2019 Apr 2. Epub 2019 Apr 2.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-019-03966-6DOI Listing
April 2019
2 Reads

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.

Cytogenet Genome Res 2018 Mar 26. Epub 2018 Mar 26.

We report a patient with developmental delay, brachydactyly type E, short stature, and tetralogy of Fallot. Brachydactyly-mental retardation syndrome (BDMR) was suspected based on the phenotype; however, array CGH excluded a 2q37 deletion, but identified a deletion encompassing the SHOX gene. BDMR is characterized by cognitive impairment, skeletal abnormalities involving hands and feet, short stature, and overweight. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000499174DOI Listing
March 2018
3 Reads

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Department of Medical Genetics, Warsaw Medical University.

Cornelia de Lange syndrome (CDLS) is a clinically and genetically heterogeneous developmental disorder characterized by multiple malformations. Primarily, affected individuals have unique and recognizable dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. However, also milder, as well as slightly phenotypically different forms exist. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000277DOI Listing

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.

Pediatr Dev Pathol 2019 Mar 19:1093526619834429. Epub 2019 Mar 19.

1 Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant intellectual disability and global developmental delay, hirsutism, and upper-limb reduction defects. Classical CdLS is associated with pathogenic variants in NIPBL. We present a clinical diagnosis of classical CdLS made in a second trimester male fetus with advanced maceration who had undergone intrauterine death at 15 + 6 weeks gestation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1093526619834429DOI Listing
March 2019
2 Reads

Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation.

Indian J Pediatr 2019 Mar 16. Epub 2019 Mar 16.

Department of Maternal and Reproductive Health, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Congenital chylothorax is a relatively uncommon condition seen in newborn period. Treatment comprises of adequate pleural fluid drainage, octreotide infusion, total parenteral nutrition followed by medium chain triglyceride (MCT) based low fat milk preparations. The authors present a case of Cornelia de Lange syndrome with a rare presentation of antenatally diagnosed chlyothorax presenting at birth with respiratory distress. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-019-02908-5DOI Listing
March 2019
1 Read
0.919 Impact Factor

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.

Am J Med Genet A 2019 Mar 15. Epub 2019 Mar 15.

Research Department, Cornelia de Lange Syndrome Foundation, Avon, Connecticut.

Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61108DOI Listing
March 2019
4 Reads

Use Of The Qsofa Score For Prediction Of Icu Admission Due To Septic Shock After Percutaneous Nephrolithotomy: A Multi-Center Study From The Edge Research Consortium.

J Urol 2019 Feb 25:101097JU0000000000000195. Epub 2019 Feb 25.

Boston , MA.

Background: Recent studies have demonstrated that the quick sequential organ failure assessment (qSOFA) criteria may be more accurate than the systemic inflammatory response syndrome (SIRS) criteria in predicting postoperative sepsis. This study evaluated the ability of qSOFA and SIRS criteria to predict septic shock after percutaneous nephrolithotomy.

Materials And Methods: A retrospective multi-center study of 320 patients who underwent percutaneous nephrolithotomy at 8 institutions was performed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/JU.0000000000000195DOI Listing
February 2019
8 Reads

Burnout syndrome: are stroke neurologists at a higher risk?

Arq Neuropsiquiatr 2019 Feb;77(2):84-90

Universidade Federal do Paraná, Hospital de Clínicas, Curitiba PR, Brasil.

Background: Burnout syndrome is a work-related psychological response, characterized by emotional exhaustion, depersonalization and low professional accomplishment.

Objective: The study aimed to evaluate the prevalence of burnout syndrome in neurologists in the State of Paraná, Brazil, dividing them into stroke neurologists and non-stroke neurologists.

Methods: We performed a crosssectional observational study, with a quantitative approach, based on the online Maslach Burnout Inventory - Human Services Survey questionnaire. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/0004-282X20190002DOI Listing
February 2019

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Am J Med Genet A 2019 May 25;179(5):852-856. Epub 2019 Feb 25.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in NIPBL, RAD21, SMC3, HDAC8, or SMC1A; all of which code for proteins that are components of, or interact with, the cohesin complex. Despite the identification of multiple genes associated with CdLS, over 25% of individuals strongly suspected to have CdLS have negative genetic testing, indicating that there are additional genes associated with the condition. HDAC2 codes for histone deacetylase 2 (HDAC2) and, like HDAC8, is a Class 1 histone deacetylase. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61101DOI Listing

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.

Pharmacotherapy 2019 Feb 22. Epub 2019 Feb 22.

Department of Pharmacy, Children's Hospital Colorado, Aurora, Colorado.

Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language deficits. Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X syndrome, Rett syndrome, Cornelia de Lange syndrome, and Down syndrome. Self-injurious behaviors (SIBs) are common in children with NDDs; depending on the specific NDD, the incidence of SIBs is nearly 100%. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/phar.2238
Publisher Site
http://dx.doi.org/10.1002/phar.2238DOI Listing
February 2019
2 Reads

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Orphanet J Rare Dis 2019 02 15;14(1):45. Epub 2019 Feb 15.

Center for Medical Genetics, School of life sciences, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, People's Republic of China.

Background: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis rapidly and detect the mosaic mutation when only sanger sequencing is taken. Read More

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
Publisher Site
http://dx.doi.org/10.1186/s13023-019-1022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774PMC
February 2019
8 Reads

Ophthalmologic findings in the Cornelia de Lange syndrome.

Ophthalmic Genet 2019 Feb 15;40(1):1-6. Epub 2019 Feb 15.

a Sidney Kimmel Medical College , Thomas Jefferson University , Philadelphia , Pennsylvania , USA.

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome.

Materials And Methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/13816810.2019.1
Publisher Site
http://dx.doi.org/10.1080/13816810.2019.1571617DOI Listing
February 2019
17 Reads

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

Eur J Med Genet 2019 Feb 2. Epub 2019 Feb 2.

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.

Cornelia de Lange syndrome is a rare autosomal dominant or X-linked developmental disorder characterized by characteristic facial dysmorphism, intellectual disability, growth retardation, upper limb and multiorgan anomalies. Causative mutations have been identified in five genes coding for the cohesion complex structure components or regulatory elements. Among them, RAD21 is associated with a milder phenotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.01.010DOI Listing
February 2019
1 Read

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study.

J Allergy Clin Immunol 2019 Jan 17. Epub 2019 Jan 17.

Department of Pediatric Immunology and HSCT, Great North Children's Hospital, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK; Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne - UK, NE2 4HH.

Background: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00916749193003
Publisher Site
http://dx.doi.org/10.1016/j.jaci.2018.12.1010DOI Listing
January 2019
17 Reads

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 03 10;7(3):e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Background: Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355PMC
March 2019
2 Reads

[Preterm Birth Screening: What Does Really Make Sense?]

Praxis (Bern 1994) 2019 Jan;108(1):53-57

1 Geburtshilfe und Feto-Maternale Medizin, Universitätsklinik für Frauenheilkunde, Inselspital Bern.

Preterm Birth Screening: What Does Really Make Sense? Abstract. Spontaneous preterm birth is a syndrome triggered by multiple mechanisms. In view of the pathophysiological heterogeneity of preterm birth, a single biomarker cannot show the required high negative and positive predictive values. Read More

View Article

Download full-text PDF

Source
https://econtent.hogrefe.com/doi/10.1024/1661-8157/a003137
Publisher Site
http://dx.doi.org/10.1024/1661-8157/a003137DOI Listing
January 2019
11 Reads

Cornelia de Lange syndrome in diverse populations.

Am J Med Genet A 2019 Feb 6;179(2):150-158. Epub 2019 Jan 6.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.61033
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367950PMC
February 2019
25 Reads

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

BMC Med Genet 2019 Jan 3;20(1). Epub 2019 Jan 3.

Department of Biology and Medical Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.

Background: Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15% of all NIPBL genetic abnormalities. Read More

View Article

Download full-text PDF

Source
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
Publisher Site
http://dx.doi.org/10.1186/s12881-018-0738-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318863PMC
January 2019
3 Reads

Predicted clinical factors associated with the intensive care unit length of stay after total cavopulmonary connection.

J Thorac Cardiovasc Surg 2018 Nov 15. Epub 2018 Nov 15.

Department of Cardiovascular Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany; Insure (Institute for Translational Cardiac Surgery), Department of Cardiovascular Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany; German Center for Cardiovascular Research, Munich, Germany.

Objectives: A longer length of stay (LOS) in the intensive care unit (ICU) after the total cavopulmonary connection (TCPC) is thought to be a predictive sign of late Fontan failure. This study was performed to determine the clinical risk factors for ICU LOS.

Methods: In total, 483 patients who underwent a TCPC between May 1994 and December 2016 were included the study. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00225223183296
Publisher Site
http://dx.doi.org/10.1016/j.jtcvs.2018.10.144DOI Listing
November 2018
15 Reads

Cornelia De Lange Syndrome and Cochlear Implantation.

Iran J Otorhinolaryngol 2018 Nov;30(101):369-373

Department of ENT, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss.

Case Report: A 3-year-old boy with CDLS underwent unilateral cochlear implantation for bilateral profound sensorineural hearing loss. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291814PMC
November 2018
1 Read

Recurrence and Familial Inheritance of Intronic Pathogenic Variant Associated With Mild CdLS.

Front Neurol 2018 27;9:967. Epub 2018 Nov 27.

Laboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.

Splicing pathogenic variants account for a notable fraction of alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing methods. We describe five subjects, belonging to three families, displaying a mild Cornelia de Lange syndrome phenotype who carry the pathogenic variant c.5329-15A>G, affecting the IVS27 branch site, yet reported in a single case. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2018.00967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459PMC
November 2018
2 Reads

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.

Med Arch 2018 Oct;72(4):297-299

Department of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA.

Introduction: Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21, or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5455/medarh.2018.72.297-299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194947PMC
October 2018
2 Reads

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects.

Med Clin (Barc) 2018 Nov 20. Epub 2018 Nov 20.

Unidad de Genética Clínica y Genómica Funcional, Departamento de Farmacología-Fisiología, Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.medcli.2018.10.001DOI Listing
November 2018
1 Read

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Cytogenet Genome Res 2018 16;156(4):191-196. Epub 2018 Nov 16.

Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as "a novel genetic disorder. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000494871DOI Listing
February 2019
2 Reads

Assessment of parental mosaicism in -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

J Med Genet 2019 Feb 27;56(2):75-80. Epub 2018 Oct 27.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

Background: Dravet syndrome is a severe genetic encephalopathy, caused by pathogenic variants in Low-grade parental mosaicism occurs in a substantial proportion of families (7%-13%) and has important implications for recurrence risks. However, parental mosaicism can remain undetected by methods regularly used in diagnostics. In this study, we use single-molecule molecular inversion probes (smMIP), a technique with high sensitivity for detecting low-grade mosaic variants and high cost-effectiveness, to investigate the incidence of parental mosaicism of variants in a cohort of 90 families and assess the feasibility of this technique. Read More

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105672
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105672DOI Listing
February 2019
9 Reads

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Psychiatry Clin Neurosci 2019 Jan 12;73(1):11-19. Epub 2018 Dec 12.

Centre for Brain Development and Repair, Institute for Stem Cell Biology and Regenerative Medicine, Bengaluru, India.

Aim: Severe mental illnesses (SMI), such as bipolar disorder and schizophrenia, are highly heritable, and have a complex pattern of inheritance. Genome-wide association studies detect a part of the heritability, which can be attributed to common genetic variation. Examination of rare variants with next-generation sequencing may add to the understanding of the genetic architecture of SMI. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pcn.12788
Publisher Site
http://dx.doi.org/10.1111/pcn.12788DOI Listing
January 2019
9 Reads
1.620 Impact Factor

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Orphanet J Rare Dis 2018 10 25;13(1):185. Epub 2018 Oct 25.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.

Background: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. Read More

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
Publisher Site
http://dx.doi.org/10.1186/s13023-018-0924-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203267PMC
October 2018
12 Reads

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Ann Hum Genet 2019 Mar 10;83(2):100-109. Epub 2018 Oct 10.

Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.

Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ahg.12289
Publisher Site
http://dx.doi.org/10.1111/ahg.12289DOI Listing
March 2019
11 Reads

Development, behaviour and autism in individuals with SMC1A variants.

J Child Psychol Psychiatry 2019 Mar 8;60(3):305-313. Epub 2018 Oct 8.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants.

Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/jcpp.12979
Publisher Site
http://dx.doi.org/10.1111/jcpp.12979DOI Listing
March 2019
41 Reads

Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

J Pediatr Neurosci 2018 Jul-Sep;13(3):334-336

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Read More

View Article

Download full-text PDF

Source
http://www.pediatricneurosciences.com/text.asp?2018/13/3/334
Publisher Site
http://dx.doi.org/10.4103/JPN.JPN_25_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144607PMC
October 2018
31 Reads

A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn.

Chin Med J (Engl) 2018 10;131(19):2384-2385

Department of Eugenics and Genetics, Women and Infants Hospital of Zhengzhou, Zhengzhou, Henan 45000, China.

View Article

Download full-text PDF

Source
http://www.cmj.org/text.asp?2018/131/19/2384/241793
Publisher Site
http://dx.doi.org/10.4103/0366-6999.241793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166451PMC
October 2018
5 Reads

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Am J Med Genet A 2018 Sep 21;176(9):1865-1871. Epub 2018 Sep 21.

Department of Pediatrics. ASST-Lariana. Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.

Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well-known feature, no specific data have been published about the use of nutritional devices. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40372DOI Listing
September 2018
6 Reads

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.

Hum Mol Genet 2019 01;28(1):64-73

Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five genes: nipped-B-like protein, structural maintenance of chromosomes 1A, structural maintenance of chromosomes 3, RAD21 cohesin complex component and histone deacetylase 8 (HDAC8). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddy329DOI Listing
January 2019
6 Reads

Ivabradine Aggravates the Proarrhythmic Risk in Experimental Models of Long QT Syndrome.

Cardiovasc Toxicol 2019 04;19(2):129-135

Division of Electrophysiology, Department of Cardiovascular Medicine, University of Münster, Münster, Germany.

Ivabradine has recently been demonstrated to have antiarrhythmic properties in atrial fibrillation. The aim of the present study was to assess the electrophysiologic profile of ivabradine in an experimental whole-heart model of long-QT-syndrome. In 12 isolated rabbit hearts long-QT-2-syndrome (LQT2) was simulated by infusion of D,L-sotalol (100 µM). Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12012-018-9482-y
Publisher Site
http://dx.doi.org/10.1007/s12012-018-9482-yDOI Listing
April 2019
27 Reads

Cochlear implantation in children with congenital long QT syndrome: Introduction of an evidence-based pathway of care.

Cochlear Implants Int 2018 11 19;19(6):350-354. Epub 2018 Sep 19.

a Department of Paediatric Anaesthesia , Royal Manchester Children's Hospital , Manchester , UK.

Congenital long QT syndrome (cLQTS) is an inherited cardiac ion channelopathy characterized by a long corrected-QT interval on the ECG, associated with a risk of syncope and sudden death as a result of arrhythmias. The archetypal arrhythmia associated with cLQTS is torsade de pointes which may degenerate into ventricular fibrillation. Children with Jervell and Lange-Neilsen syndrome have the combination of cLQTS and congenital sensorineural deafness and may present for cochlear implantation (CI). Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/14670100.2018.1
Publisher Site
http://dx.doi.org/10.1080/14670100.2018.1518686DOI Listing
November 2018
12 Reads

Temporal changes within mechanical dyssynchrony and rotational mechanics in Takotsubo syndrome: A cardiovascular magnetic resonance imaging study.

Int J Cardiol 2018 Dec 22;273:256-262. Epub 2018 Apr 22.

University Medical Center Göttingen, Department of Cardiology and Pneumology, Georg-August University, Göttingen Germany and German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany; Department of Cardiology, Royal North Shore Hospital, The Kolling Institute, Northern Clinical School, University of Sydney, Sydney, Australia. Electronic address:

Background: The pathophysiological significance of dyssynchrony and rotation in Takotsubo syndrome (TTS) is unknown. We aimed to define the influence of cardiovascular magnetic resonance feature tracking (CMR-FT) dyssynchrony and rotational mechanics in acute and during clinical course of TTS.

Methods: This multicenter study included 152 TTS patients undergoing CMR (mean 3 days after symptom onset). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2018.04.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236127PMC
December 2018
17 Reads

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 Oct 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

Purpose: Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for PMS2-associated Lynch syndrome. Using a large data set from a worldwide collaboration, our aim was to determine accurate penetrance measures of cancers for carriers of heterozygous pathogenic PMS2 variants. Read More

View Article

Download full-text PDF

Source
http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
Publisher Site
http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018
27 Reads

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Genet Med 2019 03 30;21(3):663-675. Epub 2018 Aug 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.

Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.

Methods: We retrospectively studied patients referred for clinical exome sequencing (CES, N = 10,698). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0085-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395558PMC
March 2019
8 Reads

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Eur J Med Genet 2018 Aug 17. Epub 2018 Aug 17.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, 75108, Uppsala, Sweden. Electronic address:

Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder where 70% of clinically diagnosed patients harbor a variant in one of five CdLS associated cohesin proteins. Around 500 variants have been identified to cause CdLS, however only eight different alterations have been identified in the RAD21 gene, encoding the RAD21 cohesin complex component protein that constitute the link between SMC1A and SMC3 within the cohesin ring. We report a 15-month-old boy presenting with developmental delay, distinct CdLS-like facial features, gastrointestinal reflux in early infancy, testis retention, prominent digit pads and diaphragmatic hernia. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.08.007DOI Listing
August 2018
5 Reads

Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.

Stem Cell Res 2018 08 25;31:174-180. Epub 2018 Jul 25.

Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Centro Nacional de Biologia Estrutural e Bioimagem, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Instituto Nacional de Ciência e Tecnologia em Medicina Regenerativa, Rio de Janeiro, RJ, Brazil.

Four human iPSC cell lines (one Jervell and Lange-Nielsen Syndrome, one Long QT Syndrome-type 1 and two healthy controls) were generated from peripheral blood obtained from donors belonging to the same family. CytoTune™-iPS 2.0 Sendai Reprogramming Kit (containing OCT3/4, KLF4, SOX2 and cMYC as reprogramming factors) was used to generate all cell lines. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2018.07.016DOI Listing
August 2018
20 Reads

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):557-560

Center of Prenatal Diagnosis, Hangzhou Gynecology and Obstetrics Hospital (Hangzhou Women and Children's Health Care Hospital), Hangzhou, Zhejiang 310008, China.

Objective: To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS).

Methods: Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow response, and was suspected as CdLS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.022DOI Listing
August 2018
18 Reads

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):493-497

Department of Neonatology, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China.

Objective: To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).

Methods: Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing. Read More

View Article

Download full-text PDF

Source
http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
Publisher Site
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.007DOI Listing
August 2018
7 Reads

Mosaic Intronic Variant in a Family With Cornelia de Lange Syndrome.

Front Genet 2018 13;9:255. Epub 2018 Jul 13.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic variants are detected and 15% of them are predicted to affect splicing. Moreover, a large portion of genetic variants in was shown to be somatic mosaicism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2018.00255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508PMC
July 2018
5 Reads

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Nat Rev Genet 2018 Oct;19(10):649-666

Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41576-018-0031-0DOI Listing
October 2018
17 Reads

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.

Cell Physiol Biochem 2018 10;47(6):2388-2395. Epub 2018 Jul 10.

Background/aims: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis of CdLS was based mainly on identifying the typical phenotype in patients. However, with the advances in clinical molecular genetic diagnostic techniques, more patients, especially patients with milder phenotypes, are being diagnosed from detecting pathogenic mutation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000491613DOI Listing
August 2018
26 Reads

A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.

Acta Paediatr 2018 Dec 20;107(12):2054-2058. Epub 2018 Jul 20.

Department of Pediatric Surgery, Chelsea Children's Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, Imperial College London, London, UK.

Aim: Appendiceal volvulus (AV) and cecal volvulus (CV) are rare conditions and there is no consensus regarding the best surgical approach. This study reviewed CV and AV management and outcomes in children.

Methods: PubMed was reviewed from 1990 to 2018 for AV and CV in children and studies published in English were selected by two independent reviewers. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/apa.14476
Publisher Site
http://dx.doi.org/10.1111/apa.14476DOI Listing
December 2018
11 Reads