scholarly journals Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Shahzaib Khattak ◽  
Meryam Jan ◽  
Sara Warsi ◽  
Sohail Khattak
Keyword(s):  
Scientific Literature ◽  
De Novo ◽  
Heart Defects ◽  
Self Regulation ◽  
Alagille Syndrome ◽  
Copy Number Variations ◽  
Facial Dysmorphism ◽  
Limited Data ◽  
Wide Range ◽  
History Of

Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

2018 ◽  
Vol 21 (1) ◽  
pp. 87-91 ◽  
Author(s):  
M Vaisvilas ◽  
V Dirse ◽  
B Aleksiuniene ◽  
I Tamuliene ◽  
L Cimbalistiene ◽  
...  
Keyword(s):  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Lymphoblastic Leukemia ◽  
Snp Array ◽  
Facial Dysmorphism ◽  
Severe Intellectual Disability ◽  
Leukemic Clone ◽  
Cell Growth And Differentiation ◽  
Facial Dysmorphia

Abstract Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.

scholarly journals FISH spots microdeletion in heart defects

2009 ◽  
Vol 15 (S3) ◽  
pp. 5-6
Author(s):  
P. Ferraz-Gameiro ◽  
J. Ferrão ◽  
C. Mendes ◽  
L. M. Pires ◽  
E. Matoso ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Autosomal Dominant Trait ◽  
Conotruncal Malformations ◽  
Wide Range ◽  
22Q11.2 Microdeletion ◽  
Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

Confronting an Emergency: The Vaccination Campaign Against Meningitis in Brazil (1974–1975)

2019 ◽  
Author(s):  
Baptiste Baylac-Paouly
Keyword(s):  
Scientific Literature ◽  
Vaccination Campaign ◽  
Public Health Emergency ◽  
Social Aspects ◽  
Vaccine Production ◽  
Historical Sources ◽  
Public And Private ◽  
Wide Range ◽  
History Of ◽  
Ongoing Project

Summary On the basis of a wide range of historical sources, including published scientific literature and both public and private archives (Institut Mérieux, WHO and IMTSSA), this article examines the history of the Brazilian vaccination campaign against cerebrospinal meningitis between 1974 and 1975. It explores not only certain aspects of vaccine production but also the wider social aspects of the ongoing project. Thus, it shows how the different actors were mobilised and their work coordinated in order to produce and vaccinate a whole country or more specifically, 90 million Brazilians in less than a year. This episode not only adds to the scholarship on the politics of vaccination but also attests to the complex reality of the production and use of a vaccine in the context of a public health emergency.

scholarly journals Seven Billion Microcosms: Evolution within Human Microbiomes

mSystems ◽  
2018 ◽  
Vol 3 (2) ◽  
Author(s):  
Tami D. Lieberman
Keyword(s):  
De Novo ◽  
Human Microbiome ◽  
Survival Strategies ◽  
System Level ◽  
Individual Species ◽  
Knowledge Gap ◽  
Bacterial Strains ◽  
Wide Range ◽  
Evolutionary Inference ◽  
History Of

ABSTRACT Rational microbiome-based therapies may one day treat a wide range of diseases and promote wellness. Yet, we are still limited in our abilities to employ such therapies and to predict which bacterial strains have the potential to stably colonize a person. The Lieberman laboratory is working to close this knowledge gap and to develop an understanding of how individual species and strains behave in the human microbiome, including with regard to their niche ranges, survival strategies, and the degree to which they adapt to individual people. We employ system-level approaches, with a particular emphasis on using de novo mutations and evolutionary inference to reconstruct the history of bacterial lineages within individuals.

scholarly journals British Enlightenment in the faces of their time: View from Russia of the 21st century

2021 ◽  
Vol 21 (1) ◽  
pp. 134-138
Author(s):  
Sergey E. Kiyasov ◽  
Keyword(s):  
21St Century ◽  
Scientific Literature ◽  
Philosophical Thought ◽  
Wide Range ◽  
History Of

The review contains comments that were the result of acquaintance with a new book by Russian experts on the history of the British Enlightenment. The authors focused on the main representatives of several generations of this direction of philosophical thought. Their bright essays are based on attracting a wide range of sources and scientific literature. Readers will have the opportunity to expand their understanding of the work of British educational intellectuals.

scholarly journals Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Elif Funda Sener
Keyword(s):  
Autism Spectrum Disorders ◽  
Complex Traits ◽  
Copy Number ◽  
De Novo ◽  
Genome Structure ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Repetitive Behaviors ◽  
Wide Range ◽  
Spectrum Disorders

Autism spectrum disorders (ASDs) are characterized by language impairments, social deficits, and repetitive behaviors. The onset of symptoms occurs by the age of 3 and shows a lifelong persistence. Genetics plays a major role in the etiology of ASD. Except genetics, several potential risk factors (environmental factors and epigenetics) may contribute to ASD. Copy number variations (CNVs) are the most widespread structural variations in the human genome. These variations can alter the genome structure either by deletion or by duplication. CNVs can be de novo or inherited. Chromosomal rearrangements have been detected in 5–10% of the patients with ASD and recently copy number changes ranging from a few kilobases (kb) to several megabases (Mb) in size have been reported. Recent data have also revealed that submicroscopic CNVs can have a role in ASD, and de novo CNVs seem to be a more common risk factor in sporadic compared with inherited forms of ASD. CNVs are being implicated as a contributor to the pathophysiology of complex neurodevelopmental disorders and they can affect a wide range of human phenotypes including mental retardation (MR), autism, neuropsychiatric disorders, and susceptibility to other complex traits such as HIV, Crohn’s disease, and psoriasis. This review emphasizes the major CNVs reported to date in ASD.

scholarly journals Engineered Collagen Matrices

2020 ◽  
Vol 7 (4) ◽  
pp. 163
Author(s):  
Vaidehi A. Patil ◽  
Kristyn S. Masters
Keyword(s):  
Mechanical Properties ◽  
Tissue Engineering ◽  
De Novo ◽  
Synthetic Polymers ◽  
Chemical Modifications ◽  
Collagen Matrices ◽  
Wide Range ◽  
History Of ◽  
The Creation ◽  
Range Of Values

Collagen is the most abundant protein in mammals, accounting for approximately one-third of the total protein in the human body. Thus, it is a logical choice for the creation of biomimetic environments, and there is a long history of using collagen matrices for various tissue engineering applications. However, from a biomaterial perspective, the use of collagen-only scaffolds is associated with many challenges. Namely, the mechanical properties of collagen matrices can be difficult to tune across a wide range of values, and collagen itself is not highly amenable to direct chemical modification without affecting its architecture or bioactivity. Thus, many approaches have been pursued to design scaffold environments that display critical features of collagen but enable improved tunability of physical and biological characteristics. This paper provides a brief overview of approaches that have been employed to create such engineered collagen matrices. Specifically, these approaches include blending of collagen with other natural or synthetic polymers, chemical modifications of denatured collagen, de novo creation of collagen-mimetic chains, and reductionist methods to incorporate collagen moieties into other materials. These advancements in the creation of tunable, engineered collagen matrices will continue to enable the interrogation of novel and increasingly complex biological questions.

scholarly journals Structure and architectural appearance of cruise ports

2021 ◽  
Vol 11 (3) ◽  
pp. 41-57
Author(s):  
Alina Yu. Shleptsova ◽  
Keyword(s):  
Scientific Literature ◽  
Social Benefits ◽  
Design Standards ◽  
Wide Range ◽  
Cruise Tourism ◽  
History Of ◽  
Architectural Planning ◽  
The City ◽  
History Of Formation ◽  
Functional Purpose

Introduction. The purpose of this study is to identify principles and trends in the construction and architecture of cruise ports. Presently, Soviet-era seaport buildings fail to meet cruise tourism development requirements and current norms and standards applicable to this type of structures. Today Russian seaports are limited to solely one function, that is, transportation of passengers, whereas abroad such structures have been transformed into multifunctional complexes. Materials and methods. Theoretical analysis of scientific literature, graphic materials, and written sources were used. The research methods include systematic, spatial, and socio-functional approaches. Results. The article presents the history of formation of the architectural appearance and the functional purpose of cruise ports. It specifies principal requirements and design standards for similar structures, as well as their integration into the mo­dern urban environment. The co-authors offer solutions to relevant problems, related to the architecture of seaport buildings in Russia, using a number of selected international design cases of multifunctional marine complexes. Conclusions. By transforming obsolete buildings of seaports multifunctional complexes, we end up with a new level of structures. The competent architectural planning structure will allow urban authorities to create interesting facilities that bring not only transport, but also commercial, recreational and social benefits to the city. The structure and architectural appearance of a cruise port must be designed with regard for contemporary design standards and encompass a wide range of functional, technical, urban planning, artistic and aesthetic requirements.

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