A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

Other Hand ◽

Wide Range ◽

AbstractThe Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

Scientific Reports ◽

10.1038/s41598-020-78205-5 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Qun Li ◽

Guoying Chang ◽

Lei Yin ◽

Juan Li ◽

Xiaodong Huang ◽

...

Keyword(s):

Clinical Features ◽

Genetic Disorder ◽

Clinical Manifestations ◽

Genetic Variations ◽

Chinese Children ◽

Chinese Patients ◽

Gene Variants ◽

Wide Range ◽

AbstractCornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short stature, developmental delay, limb abnormalities, and a wide range of health conditions. In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. DNA sequencing identified 15 genetic variations, including 11 NIPBL gene variants, two SMC1A gene variants, one RAD21 gene variant, and one HDAC8 variant. The phenotype of these patients was summarized and differences between this cohort and another four groups were compared. The clinical manifestations of the patients in this cohort were mostly consistent with other ethnicities, but several clinical features in our cohort had different frequencies compared with other groups. We identified 15 deleterious variants of which 11 were novel. Variants in the NIPBL gene were the most common cause in our cohort. Our study not only expands upon the spectrum of genetic variations in CdLS, but also broadens our understanding of the clinical features of CdLS.

Reactions of polar dienes with o-quinones

Canadian Journal of Chemistry ◽

10.1139/v89-207 ◽

1989 ◽

Vol 67 (8) ◽

pp. 1354-1358 ◽

Cited By ~ 13

Author(s):

Jacques Paquet ◽

Paul Brassard

Keyword(s):

The Other ◽

Other Hand ◽

Wide Range ◽

Ketene Acetal

The behaviour of various types of polar dienes towards halogenated ortho quinones has been investigated in a number of representative cases. As compared to the commonly used para analogues, o-quinones provide a wide range of products that indicate a keener response to the nature, number, and position of substituents on both reactants. 3-Halogenated-o-naphthoquinones 1 and 2 react smoothly with a representative vinologous ketene acetal 3, vinylketene acetals 4 and 5, and a monooxygenated diene 6 to provide variously substituted phenanthrenequinones 7–11. Only monooxygenated dienes on the other hand add to o-benzoquinones 14–16 and give convenient syntheses of the corresponding o-naphthoquinones 18–20. Keywords: cycloaddition, o-naphthoquinones, phenanthrenequinones, regiospecificity.

The Council of Trent Revisited

Journal of the American Musicological Society ◽

10.1525/jams.2002.55.1.1 ◽

2002 ◽

Vol 55 (1) ◽

pp. 1-37 ◽

Cited By ~ 18

Author(s):

Craig A. Monson

Keyword(s):

The Other ◽

Council Of Trent ◽

Local Authorities ◽

Other Hand ◽

Wide Range ◽

Official Status

Abstract Reexamination of a wide range of documents surrounding the twenty-second, twenty-fourth, and twenty-fifth sessions of the Council of Trent reveals that delegates strived officially to say as little as possible about music: only that secular or impure elements should be eliminated and that specific issues should be settled locally, by individual bishops and provincial synods. But, beginning with Gustave Reese, several scholars have misleadingly strung together a preliminary canon, stressing textual intelligibility, which was never approved in the general congregations, and the few lines that actually supplanted it, concerned only with the elimination of lasciviousness. On the other hand, a largely unrecognized or misunderstood attack on church polyphony did occur at the less familiar twenty-fifth session, when Gabriele Paleotti may have attempted to suppress elaborate music in female monasteries. Although this attempt was rejected in the general congregations, its restrictions were subsequently revived by local authorities such as Paleotti and Carlo Borromeo in their own dioceses. In the Council's immediate aftermath, reformers such as Paleotti and Borromeo once again focused on the issue of intelligibility, affording it a quasi-official status that seems to have quickly become widely accepted as “iuxta formam concilii.”

Diversification of α–Ketoamides via Transamidation Reactions with Alkyl and Benzyl Amines at Room Temperature

Organic & Biomolecular Chemistry ◽

10.1039/d1ob01021b ◽

2021 ◽

Author(s):

Shweta Singh ◽

Sureshbabu Popuri ◽

Qazi Mohammad Junaid ◽

Sabiah Shahul Hameed ◽

Jeyakumar Kandasamy

Keyword(s):

Room Temperature ◽

The Other ◽

Alkyl Amines ◽

Other Hand ◽

Wide Range

A wide range of N-tosyl α–ketoamides underwent transamidation with various alkyl amines in the absence of catalyst, base, or additives. On the other hand, transamidation in N-Boc α–ketoamides is achieved...

Złożenie skargi przez konsumenta za pośrednictwem ODR (Online Dispute Resolution) – internetowego systemu rozstrzygania sporów

Opolskie Studia Administracyjno-Prawne ◽

10.25167/osap.1504 ◽

2019 ◽

Vol 17 (1) ◽

pp. 183-194

Author(s):

Anna Rogacka-Łukasik

Keyword(s):

Dispute Resolution ◽

Alternative Dispute Resolution ◽

The Other ◽

Online Dispute Resolution ◽

Other Hand ◽

Resolution System ◽

Wide Range ◽

Technical Innovations ◽

Modern Form ◽

Dispute Resolution System

ADR (Alternative Dispute Resolution), as a non-judicial resolution of disputes, is a wide range of mechanisms that aim to put an end to a conflict without the need of conducting a trial before the court. On the other hand, the modern form of ADR is ODR (Online Dispute Resolution) – an online dispute resolution system that is the expression of the newest means of communication and technical innovations in order to help in non-judicial dispute resolving. The goal of this publication is to present the ODR platform and, in particular, to describe the process of filing a complaint by the consumer by means of it.

Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome

The Journal of Pediatric Pharmacology and Therapeutics ◽

10.5863/1551-6776-24.2.160 ◽

2019 ◽

Vol 24 (2) ◽

pp. 160-165 ◽

Cited By ~ 1

Author(s):

Stephen M. Small ◽

Rachel S. Bacher

Keyword(s):

Emergency Department ◽

First Generation ◽

Case Reports ◽

Genetic Disorder ◽

Adolescent Male ◽

Qtc Interval ◽

Drug Induced ◽

Iatrogenic Complications ◽

Cornelia de Lange Syndrome is a rare genetic disorder that results in distinctive craniofacial deformities, developmental delay, hirsutism, and other physical abnormalities. Case reports suggest some of these patients exhibit sensitivity and paradoxical reactions to certain psychoactive drugs. This report of a 16-year-old male with Cornelia de Lange is the first to describe dystonia from a first-generation antipsychotic that did not respond to conventional treatment with diphenhydramine. The patient initially presented to the Emergency Department for agitation, which progressively worsened after administration of diphenhydramine, olanzapine, and intramuscular haloperidol. The patient returned to the Emergency Department the following day because of altered mental status and lethargy that progressed to periodic lip-smacking movements and contraction of his upper extremities. His symptoms continued despite administration of diphenhydramine and loading doses of 3 antiepileptic drugs. His abnormal labs included an elevated creatine kinase and a prolonged QTc interval on his electrocardiogram. His symptoms were later deemed a probable drug-induced dystonic reaction to haloperidol once seizures were excluded by an unremarkable electroencephalogram. This case supports previous reports suggesting an association between Cornelia de Lange and paradoxical drug reactions, and it is recommended that clinicians strongly weigh the risks of prescribing first-generation antipsychotics for this patient population. These medications should be carefully titrated, with close patient monitoring to prevent adverse drug effects and other iatrogenic complications because antidotes may be rendered ineffective by this condition.

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

Journal of Clinical Pathology ◽

10.1136/jclinpath-2019-205707 ◽

2019 ◽

Vol 72 (8) ◽

pp. 558-561 ◽

Cited By ~ 1

Author(s):

Grazia Fazio ◽

Valentina Massa ◽

Andrea Grioni ◽

Vojtech Bystry ◽

Silvia Rigamonti ◽

...

Keyword(s):

Paediatric Patient ◽

Acute Lymphoblastic Leukaemia ◽

Lymphoblastic Leukaemia ◽

Genetic Disorder ◽

Premature Stop Codon ◽

Sequencing Analysis ◽

First Case ◽

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 SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 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). The patient did not show any unusual cytogenetic abnormality, and he was enrolled into the high risk arm of AIEOP-BFM ALL2009 protocol because of slow early response, but 3 years after discontinuation, he experienced an ALL relapse. We identified a heterozygous mutation in exon 46 of NIPBL, causing frameshift and a premature stop codon (RNA-Targeted Next generation Sequencing Analysis). The analysis of the family indicated a de novo origin of this previously not reported deleterious variant. As for somatic cohesin mutations in acute myeloid leukaemia, also this ALL case was not affected by aneuploidy, thus suggesting a major impact of the non-canonical role of NIPBL in gene regulation. A potential biological role of NIPBL in leukaemia has still to be dissected.

Hegel’s Lectures on the History of Modern Philosophy

10.1093/oxfordhb/9780199355228.013.29 ◽

2017 ◽

Author(s):

Karin de Boer

Keyword(s):

Modern Philosophy ◽

History Of Philosophy ◽

The Other ◽

Other Hand ◽

Wide Range ◽

History Of ◽

Methodological Principles ◽

The One

This chapter examines Hegel’s lectures on the history of modern philosophy in view of the tension between, on the one hand, his ambition to grasp philosophy’s past in a truly philosophical way and, on the other hand, the necessity to account for the actual particularities of a wide range of philosophical systems. Hegel’s lectures are put in relief by comparing their methodological principles to those put forward by his Kantian predecessor Tennemann. After discussing Hegel’s conception of modern philosophy as a whole, the chapter turns to his reading of Locke, Leibniz, and, in particular, Kant. In this context, it also compares Hegel’s assessment of Kant’s achievements to that of Tennemann. The chapter concludes by considering Hegel’s account of the final moment of the history of philosophy.

Brachmann Cornelia De Lange Syndrome: A Tailored Approach for Assessment and Intervention Using the Griffiths III

Journal of Studies in Education ◽

10.5296/jse.v10i3.17202 ◽

2020 ◽

Vol 10 (3) ◽

pp. 43

Author(s):

Jennifer M Jansen ◽

Elizabeth Mary Green ◽

Louise A Stroud ◽

Mark B Watson

Keyword(s):

Test Scores ◽

Genetic Disorder ◽

Intervention Strategy ◽

Clinical Population ◽

Level Of Functioning ◽

Intervention Plan ◽

Developmental Functioning ◽

Tailored Approach ◽

The process of evaluation and intervention of an atypical child poses challenges in a number of areas. These challenges include measures that are not normed for a clinical population, the interpretation of test scores and the use of test scores to devise a meaningful individualized intervention plan that also takes into account sociocultural issues affecting family functioning. To highlight these challenges, an evaluation of a 7-year 1month old girl with Brachmann Cornelia De Lange Syndrome is described using the Griffiths III Scales of Child Development together with the Conners 3- Parent Teacher Surveys and the Vineland Adaptive Scales. The Griffiths III results confirmed a pattern of global delay in all areas of her developmental functioning. The child demonstrated difficulty with the medical and behavioural manifestations of her genetic disorder that needed to be factored into the intervention strategy. The results guided the interventions of different professionals in developing an individualised intervention plan considering the above-identified challenges. The article serves thus as a guide on how to work creatively to determine the level of functioning of an atypical child in the light of the absence of normed measures for such children.

The Political Function of the Poro. (Part II.)

Africa ◽

10.2307/1158128 ◽

1966 ◽

Vol 36 (1) ◽

pp. 62-72 ◽

Cited By ~ 33

Author(s):

Kenneth Little

Keyword(s):

The Other ◽

The Political ◽

Other Hand ◽

Political Function ◽

Wide Range ◽

Opening Paragraph

Opening ParagraphIn the concluding paragraphs of Part I of this article it was pointed out that in addition to its judicial functions the Poro society possessed some important powers of administration. On the other hand, there was also evidence to suggest that the society carried on this wide range of activities, amounting almost to government of the country, as an instrument of the chiefs.