scholarly journals AB0996 FAMILY CASE OF BLAU SYNDROME IN 3 CHILDREN, INITIALLY DIAGNOSED AS JUVENILE IDIOPATHIC ARTHRITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1791.1-1791
Author(s):  
I. Nikishina ◽  
S. Arsenyeva ◽  
E. Fedorov ◽  
V. Matkava ◽  
A. Shapovalenko ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Picture ◽  
De Novo ◽  
Specific Treatment ◽  
Blau Syndrome ◽  
Molecular Genetic Study ◽  
The Family ◽  
Family Case ◽  
Card15 Gene ◽  
Genetic Assay

Background:Juvenile Idiopathic Arthritis (JIA) is heterogeneous group of diseases which may include genetically determined conditions. Extremely rare monogenic hereditary autoinflammatory disease, such as Blau syndrome (BS) is usually difficult to recognize and JIA is initially established. BS is caused by a mutation in the NOD2/CARD5 gene and phenotypically characterized by triad of granulomatosis polyarthritis, uveitis and skin rash.Objectives:To present the family case of genetically confirmed BS in 2 siblings, initially diagnosed as patients with JIA.Methods:Two brothers of 15 and 3 years old were examined in our clinic. Additional genetic assay was performed because of unusual clinical picture.Results:Case report.Older brother, 15 y.o. developed arthritis of both wrist joints at the age of two. There was erythematous maculo-micropapular scaly rash on the trunk and extremities before the onset of arthritis. By 2009 (5 y.o.), the knees, ankles, and three PIP joints of the left hand were involved. Polyarthritis was characterized by severe effusion and periarticular tissues swallowing. He was treated in regional hospital by NSAID, methotrexate, cyclosporine A without significant positive effect. Since 2012 etanercept was added for treatment with variable result. Inactive status of the disease is never reached. Repeated intra-articular GC injections were needed from 4 to 10 times per year. The patient was admitted to our clinic in November 2019. He was suffering from severe polyarthritis and uveitis de novo (granulomatous chorioretinitis) was detected. At the same time his younger 3 y. o. brother with recently started disease was hospitalized in our clinic. He had polyarthritis with typical features of “boggy” synovitis and tenosynovitis of wrists, ankles and knees, anterior uveitis was determined. The onset of arthritis was preceded by a small-spotted rash with desquamation. This classical clinical features in younger brother let us suggest the BS. There was no increasing of ESR and CRP in both sibs throughout the course of the disease. A molecular genetic study of the NOD2/CARD15 gene in both brothers revealed the same mutation of c.1001G>A (p. Arg334Gln). Because of the absence of specific treatment for this disease and due to insufficient effect of etanercept with uveitis de novo therapy was changed to golimumab and good initial effect is reached. The youngest brother has started his therapy by methotrexate. It should be noted that the family has the eldest brother (20 y.o.), who has been suffering from arthritis since an early childhood with similar clinical picture. We are going to perform genetic analysis of the NOD2/CARD15 gene for the eldest brother.Conclusion:Our clinical case shows that extremely rare BS may be misdiagnosed as JIA. Lack of efficacy of the etanercept therapy and uveitis de novo developing may be caused by genetic (non-idiopathic) nature of disease. Classic triad of boggy-arthritis, granulomatous uveitis and/or skin lesions without acute phase markers is required to perform genetic assay for the detection of a pathogenic mutation of the NOD2/CARD15 gene. This case is remarkable by the presence of BS in two (or 3) children of the family.References:[1]Wouters C.H, Maes A, Foley K, et al. Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatric Rheumatology. 2014; 12: 33.Disclosure of Interests:None declared

BLAU SYNDROME OR MONOGENOUS SARCOIDOSIS WITH EARLY ONSET: RUSSIAN COHORT OF PATIENTS

2021 ◽  
Vol 100 (5) ◽  
pp. 99-109
Author(s):  
E.S. Fedorov ◽  
◽  
S.O. Salugina ◽  
A.N. Shapovalenko ◽  
E.Yu. Zakharova ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Picture ◽  
Autoinflammatory Disease ◽  
Age Of Onset ◽  
Decisive Role ◽  
Pathogenic Mutation ◽  
Skin Lesions ◽  
Posterior Uveitis ◽  
Blau Syndrome ◽  
Card15 Gene

Blau syndrome (BS) is a rare monogenic granulomatous autoinflammatory disease (a variant of genetically determined sarcoidosis) caused by a mutation of the NOD2/CARD15 gene, transmitted in an autosomal dominant manner and manifested by a triad of signs: dermatitis, granulomatous arthritis with pronounced exudative component and involvement of periarticular tissues, uveitis. Objective of the study: to present the variants of the clinical picture and the type of pathogenic variants (mutations) in patients with a rare monogenic granulomatous autoinflammatory disease – BS – in the Russian Federation, the clinical picture of which can mimic juvenile idiopathic arthritis. Materials and methods of research: the observational study included patients with BS who were observed in the children's department of the V.A. Nasonova Research Institute of Rheumatology from 2014 to 2021, the diagnosis of which was confirmed by the detection of a pathogenic mutation in the NOD2/CARD15 gene. Results: the study included 8 children: 6 boys and 2 girls. Ethnic Russians were 5 patients, 1 Jew, 1 of mixed origin (peoples of Dagestan/Russians), 1 Tatar female. The age of onset of the disease is from the first days of life to 2,5 years. Skin lesions were observed in 6 (75%) patients. Atypical arthritis (boggy arthritis) was observed in all patients, in all cases the wrist, ankle and knee joints were involved in the pathological process. Uveitis developed after all other manifestations and was detected in 6 (75%) patients. At the onset, 5 patients had anterior uveitis, 2 of them with subsequent involvement of the posterior segment; in 1 child, the first ophthalmic manifestation was posterior uveitis. In 5 patients, there was no increase in acute phase markers (ESR, C-reactive protein). 5 (62,5%) patients had variant p.R334Q (c.1001G>A), 2 (25%) had variant p.R334W (c.1001G>A), 1 patient had variant p.M513T (c.1538T>C) of the NOD2/CARD15 gene. Conclusions: BS can be encountered in the practice of a pediatric rheumatologist in Russia and requires differentiation from polyarticular juvenile idiopathic arthritis. Identification of the pathogenic variant of the NOD2/CARD15 gene plays a decisive role in the diagnosis.

scholarly journals De Novo SNP Discovery and Genotyping of Iranian Pimpinella Species Using ddRAD Sequencing

Agronomy ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1342
Author(s):  
Shaghayegh Mehravi ◽  
Gholam Ali Ranjbar ◽  
Ghader Mirzaghaderi ◽  
Anita Alice Severn-Ellis ◽  
Armin Scheben ◽  
...  
Keyword(s):  
De Novo ◽  
Genetic Relationships ◽  
Nucleotide Polymorphisms ◽  
High Quality ◽  
Genomic Resources ◽  
High Quality Snps ◽  
The Family ◽  
Double Digestion ◽  
Flanking Sequences ◽  
Downstream Analysis

The species of Pimpinella, one of the largest genera of the family Apiaceae, are traditionally cultivated for medicinal purposes. In this study, high-throughput double digest restriction-site associated DNA sequencing technology (ddRAD-seq) was used to identify single nucleotide polymorphisms (SNPs) in eight Pimpinella species from Iran. After double-digestion with the enzymes HpyCH4IV and HinfI, a total of 334,702,966 paired-end reads were de novo assembled into 1,270,791 loci with an average of 28.8 reads per locus. After stringent filtering, 2440 high-quality SNPs were identified for downstream analysis. Analysis of genetic relationships and population structure, based on these retained SNPs, indicated the presence of three major groups. Gene ontology and pathway analysis were determined by using comparison SNP-associated flanking sequences with a public non-redundant database. Due to the lack of genomic resources in this genus, our present study is the first report to provide high-quality SNPs in Pimpinella based on a de novo analysis pipeline using ddRAD-seq. This data will enhance the molecular knowledge of the genus Pimpinella and will provide an important source of information for breeders and the research community to enhance breeding programs and support the management of Pimpinella genomic resources.

scholarly journals Transcriptomic and Proteomic Analyses Reveal the Diversity of Venom Components from the Vaejovid Scorpion Serradigitus gertschi

Toxins ◽  
2018 ◽  
Vol 10 (9) ◽  
pp. 359 ◽  
Author(s):  
Maria Romero-Gutiérrez ◽  
Carlos Santibáñez-López ◽  
Juana Jiménez-Vargas ◽  
Cesar Batista ◽  
Ernesto Ortiz ◽  
...  
Keyword(s):  
Serine Proteases ◽  
De Novo ◽  
Sequence Similarity ◽  
Scorpion Venom ◽  
Secretory Proteins ◽  
Host Defense Peptides ◽  
The Family ◽  
Pathogenesis Related ◽  
Molecular Masses

To understand the diversity of scorpion venom, RNA from venomous glands from a sawfinger scorpion, Serradigitus gertschi, of the family Vaejovidae, was extracted and used for transcriptomic analysis. A total of 84,835 transcripts were assembled after Illumina sequencing. From those, 119 transcripts were annotated and found to putatively code for peptides or proteins that share sequence similarities with the previously reported venom components of other species. In accordance with sequence similarity, the transcripts were classified as potentially coding for 37 ion channel toxins; 17 host defense peptides; 28 enzymes, including phospholipases, hyaluronidases, metalloproteases, and serine proteases; nine protease inhibitor-like peptides; 10 peptides of the cysteine-rich secretory proteins, antigen 5, and pathogenesis-related 1 protein superfamily; seven La1-like peptides; and 11 sequences classified as “other venom components”. A mass fingerprint performed by mass spectrometry identified 204 components with molecular masses varying from 444.26 Da to 12,432.80 Da, plus several higher molecular weight proteins whose precise masses were not determined. The LC-MS/MS analysis of a tryptic digestion of the soluble venom resulted in the de novo determination of 16,840 peptide sequences, 24 of which matched sequences predicted from the translated transcriptome. The database presented here increases our general knowledge of the biodiversity of venom components from neglected non-buthid scorpions.

scholarly journals Ichthyosis (concept, pathohistology, clinical picture, treatment)

2021 ◽  
Vol 97 (3) ◽  
pp. 6-13
Author(s):  
Tatyana Gennadyevna Takhtarova ◽  
Zarema Rimovna Khismatullina ◽  
Lyudmila Dmitrievna Panova ◽  
Anastasia Nikolaevna Panova
Keyword(s):  
Clinical Picture ◽  
Specific Treatment ◽  
Electron Microscopic Examination ◽  
Allergic Diseases ◽  
Electron Microscopic ◽  
Lamellar Ichthyosis ◽  
Congenital Ichthyosis ◽  
Age Related ◽  
Epidermolytic Hyperkeratosis ◽  
Definition Of

Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales. It is possible to distinguish different approaches to the definition of ichthyosis, based on the modern study of this issue. Ichthyosis is classified by type: congenital and acquired. Congenital ichthyosis has its own classification depending on the manifestation of changes in the skin, the course of the disease, concomitant pathologies. Congenital ichthyosis is divided into ordinary (vulgar autosomal dominant, simple) ichthyosis, lamellar ichthyosis (dry ichthyosiform erythroderma, "collodion child", lamellar ichthyosis), X-linked ichthyosis (ichthyosis associated with the X chromosome, blackening ichthyosis), congenital bullous ichthyosiform erythroderma (erythroderma Broca's disease, ichthyosiform epidermolytic hyperkeratosis), fetal ichthyosis (intrauterine ichthyosis, universal hyperkeratosis, "Harlequin fetus", congenital keratosis), other congenital ichthyosis. Ichthyosiform conditions (the so-called acquired ichthyosis) are divided into symptomatic, age-related (senile), discoid ichthyosis. The causes of acquired ichthyosis can be various diseases, taking medications, improper skin care, unbalanced nutrition. Each form of ichthyosis differs by the type of inheritance, prevalence in the population, clinical picture, verified by histological examination of skin biopsies and electron microscopic examination of the skin. It may be accompanied by seasonality of exacerbation of the clinical picture, association with other diseases (allergic, diseases of the gastrointestinal tract, congenital malformations). There is no specific treatment for ichthyosis. In systemic therapy, derivatives of vitamin A are used, keratolytics, as well as moisturizing and emollient agents are used for external treatment. The use of therapeutic baths, general ultraviolet irradiation is effective.

scholarly journals Recurrent headache and migraine within the family

Genetika ◽  
2011 ◽  
Vol 43 (1) ◽  
pp. 101-112
Author(s):  
Marija Knezevic-Pogancev
Keyword(s):  
Ethnic Groups ◽  
Clinical Picture ◽  
Migraine Headache ◽  
Nuclear Family ◽  
Family Data ◽  
Northern Province ◽  
Place Of Birth ◽  
Recurrent Headache ◽  
Migraine Headaches ◽  
The Family

The aim of this research was to determine risk for family appearance of the recurrent headache (non-migraine and migraine). The recurrent headache can be understood as being a heterogeneous state, consisting of some more, still not found, hereditary disposition factors which altogether, interacting with surrounding factors give the recognizable clinical picture. The current heredity concept suggests multifactor heredity. The research was conducted in Vojvodina, the Northern Province of Serbia. The population of Vojvodina is around 2 million people belonging to more than 20 different ethnic groups. During the 20 years period (1988-2008), 30363 children aged 3 to 17 years were tested, independent of the place of birth. The presence of headaches similar to those tested was compared among all the members of the family within three generations. Positive family data of the recurrent headaches was detected among 98,6% children with migraine headaches, 64,7% children with non- migraine headaches, and 32,4% children without recurrent headaches. The relation among the members of the nuclear family (contingency quotient of 0,429) is significantly stronger than the relation to the members of wider family (contingency quotient of 0,338). The probability of a child having the migraine headache, and not the non-migraine one, is 0,664 for a mother, 0,644 for a father, 0,411 for a father`s mother, - 0,175 for a mother`s mother, 0,165 for a mother`s father, and - 0,102 for a father`s father having similar recurrent headaches.

scholarly journals Stacks 2: Analytical Methods for Paired-end Sequencing Improve RADseq-based Population Genomics

2019 ◽  
Author(s):  
Nicolas C. Rochette ◽  
Angel G. Rivera-Colón ◽  
Julian M. Catchen
Keyword(s):  
Population Genomics ◽  
De Novo ◽  
Simulated Data ◽  
Natural World ◽  
Massively Parallel ◽  
Genetic Knowledge ◽  
Type Ii ◽  
Short Read Sequencing ◽  
The Family ◽  
Paired End Sequencing

AbstractFor half a century population genetics studies have put type II restriction endonucleases to work. Now, coupled with massively-parallel, short-read sequencing, the family of RAD protocols that wields these enzymes has generated vast genetic knowledge from the natural world. Here we describe the first software capable of using paired-end sequencing to derive short contigs from de novo RAD data natively. Stacks version 2 employs a de Bruijn graph assembler to build contigs from paired-end reads and overlap those contigs with the corresponding single-end loci. The new architecture allows all the individuals in a meta population to be considered at the same time as each RAD locus is processed. This enables a Bayesian genotype caller to provide precise SNPs, and a robust algorithm to phase those SNPs into long haplotypes – generating RAD loci that are 400-800bp in length. To prove its recall and precision, we test the software with simulated data and compare reference-aligned and de novo analyses of three empirical datasets. We show that the latest version of Stacks is highly accurate and outperforms other software in assembling and genotyping paired-end de novo datasets.

Cutaneous manifestations in systemic scleroderma

2021 ◽  
pp. 58-63
Author(s):  
Olga Alekseevna Petrishcheva
Keyword(s):  
Gastrointestinal Tract ◽  
Clinical Picture ◽  
Laboratory Data ◽  
Joint Damage ◽  
Specific Treatment ◽  
Systemic Scleroderma ◽  
Lower Gastrointestinal Tract ◽  
Internal Organs ◽  
Cutaneous Manifestations ◽  
Therapeutic Measures

Systemic scleroderma is a chronic disease, the etiology of which is not fully understood. In systemic scleroderma, there is a diffuse change in the skin with the development of fibrosis, as well as with damage to internal organs (in particular, the esophagus, lower gastrointestinal tract, heart, liver and kidneys). The disease can proceed in a generalized and focal form; it is also possible to develop a variant of scleroderma without affecting the skin. A typical clinical picture of the disease is characterized by damage to the skin, the occurrence of multiple joint damage, the development of dysphagia, and the appearance of heartburn, general swelling and the formation of digital contractures. In women, the disease occurs 4 times more often than in men, while it is very rare in children. The onset of the disease is usually observed between the ages of 30 and 50. The diagnosis is established on the basis of the clinical picture, taking into account laboratory data. There is no specific treatment; therapeutic measures are usually aimed at combating complications.

Neurocutaneous syndromes

2018 ◽  
Author(s):  
Nerissa Jordan
Keyword(s):  
Early Childhood ◽  
De Novo ◽  
Genetic Disorders ◽  
Specific Treatment ◽  
Diverse Group ◽  
De Novo Mutations ◽  
Cutaneous Manifestations ◽  
Distinct Phenotype ◽  
Neurocutaneous Syndromes ◽  
Age Range

The neurocutaneous syndromes comprise a diverse group of rare genetic disorders with both neurological and cutaneous manifestations. Each syndrome has a distinct phenotype. Symptoms are variable and depend on the syndrome. Neurocutaneous syndromes often present in childhood or adolescence; for example, tuberous sclerosis typically presents in early childhood. The age range of presentation is broad, depending on the specific condition and severity of expression. The majority are autosomally inherited conditions. De novo mutations can occur. Most neurocutaneous syndromes do not have a specific treatment, and management is predominantly supportive and aimed at symptom reduction and appropriate monitoring. This chapter discusses neurocutaneous syndromes, including their symptoms, demographics, etiologies, natural history, complications, diagnosis, prognosis, and treatment.

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