Evaluation of knowledge about primary immunodeficiencies among postgraduate medical students

Boyarchuk, Oksana; Kinash, M. I.; HARIYAN, Tetiana; BAKALYUK, Tetiana

doi:10.31688/abmu.2019.54.1.18

Cited by 9 publications

(9 citation statements)

References 14 publications

(25 reference statements)

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“…Our previous research revealed poor awareness of specific signs of PIDs, even the most common ones, among physicians, postgraduate students and medical students in Ternopil region, Ukraine. [7][8][9] The aim of our study was to define the features of PID clinical manifestations in the patients of Ternopil region, Ukraine, in order to improve early detection of these diseases.…”

Section: Introductionmentioning

confidence: 99%

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

Boyarchuk¹,

Dmytrash²

2019

Turk J Immunol

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Introduction: Defining clinical signs is very important for timely diagnosis of diseases, as well as primary immunodeficiencies (PID). The aim of our study was to identify manifestations and their specific features in the patients of Ternopil region, Ukraine, in order to improve early detection of primary immunodeficiencies. Materials and Methods: This retrospective and prospective study involved 36 patients with primary immunodeficiencies, whose clinical symptoms were followed up from the disease onset. A prospective analysis was performed for 26 patients, while retrospective analysis based on the review of medical records was conducted for 10 patients. Results: Combined immunodeficiencies with associated or syndromic features such as Nijmegen breakage syndrome, 22q11.2 deletion syndrome, ataxia-teleangiectasia, were diagnosed the most frequently and followed by antibody deficiencies. The mean delay from initial symptoms to diagnosis was 31.5 months, and ranging from one to 156 months. Recurrent bacterial respiratory tract infections were evidenced in 61.1% of patients, recurrent viral respiratory infections-in 44.4% of patients. Skin infections were reported in 25.0% of all cases. Allergies were present in 11.1% and autoimmune diseases in 16.7% of all patients; malignancy was revealed in one case. Conclusions: Infections were the most prominent clinical manisfestation PIDs, although more than 30% of the children have had PID manifestations accompanied by autoimmune disorders, allergies, or malignancies. Taking into account regional features of the PID incidence, more attention should be given to the clinical signs of microcephaly, ataxia, teleangiectasia and congenital heart defects in PID diagnosis. Lymphopenia and characteristic dysmorphic features are also warning signs for PID in the neonatal period and early infancy.

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Section: Introductionmentioning

confidence: 99%

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

Boyarchuk¹,

Dmytrash²

2019

Turk J Immunol

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“…Adequate prevention of recurrent infections, avoidance of ionizing radiation are promising factors in terms of improving both life quality and expectancy of children with DNA repair disorder. The analysis of doctors, students, and postgraduate students' awareness revealed low knowledge about diagnostic algorithm in newborn microcephaly and lack of alertness for the detrimental effect of ionizing radiation in these syndromes 14,15,27 . Improvement of the doctors' awareness is expected to contribute to timely diagnosis and prevention of severe complications 8,28 .…”

Section: Discussionmentioning

confidence: 99%

“…Knowledge of the early clinical manifestations and the course of PIDs associated with disorders of DNA repair is essential for both primary care physicians and physicians of narrow specialties, for a timely diagnosis and prevention of severe complications of these diseases [14][15] , because the radiation exposure of the children with PID, including X-ray examination methods, should be limited. Magnetic resonance imaging (MRI) should be preferred.…”

Section: Introductionmentioning

confidence: 99%

A rare case of pigmented cutaneous malignant melanoma of the vulva

Dvoretsky¹,

Карнаушкина²,

ZAYRATIANTS³

et al. 2020

Arch Balk Med Union

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Immunodéficiences primaires associées à la réponse de l'altération de réparation de l'ADN : complexités du diagnostic Introduction. L'ataxie-télangiectasie (A-T) ou le syndrome de Louis-Bar et le syndrome de rupture de Nimègue (NBS) font partie des immunodéficiences primaires associées à une altération de la réparation de l'ADN en raison d'endommagements des gènes impliqués dans le système de réparation. La particularité de ces maladies orphelines est que le début et le développement des manifestations cliniques dépendent de la gravité de l'instabilité du génome, du taux d'accumulation de mutations déterminant la gravité de l'évolution pour chaque patient. Présentation des cas. Les cas cliniques du syndrome AT chez l'enfant de 4 ans et NBS chez l'enfant de 8 ans sont représentés dans l'article. On a analysé la dynamique des symptômes cliniques et les caractéristiques de leur évolution, ce qui avait compliqué

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“…Auxiliary diagnosis of a number of diseases using the TREC/ KREC assay has its positive sides, as a number of immunodeficiencies may manifest in the second -third year of life. Low awareness of physicians regarding PID, vagueness of the onset of clinical symptoms lead to a late diagnosis of PID, which can have certain negative consequences and worsen the quality of life [34][35][36] . At the same time, the early diagnosis of PIDs such as A-T, NBS, DGS, DOCK8 deficiency can have advantages, as it will allow proper preventive measures.…”

Section: Related Findingsmentioning

confidence: 99%

Benefits, challenges and prospects of newborn screening for primary immunodeficiency

Boyarchuk

Hariyan

Yarema

et al. 2021

Arch Balk Med Union

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Avantages, défis et perspectives du dépistage de l'immunodéficience primaire chez les nouveau-nésPlus de dix ans de mise en oeuvre du dépistage néonatal du déficit immunitaire combiné sévère (DIC) à l'aide de T-cell receptor excision circle (TREC), et ces dernières années le test TREC/ kappa-deleting recombination excision circle (KREC) ont montré un certain nombre de ses avantages, qui ne sont pas seulement une détection appropriée pour obtenir de meilleurs résultats thérapeutiques et la survie des enfants, ainsi que des connaissances élargies sur la prévalence du DIC, d'autres maladies associées à la lymphopénie T et B, ont permis de détecter de nouvelles mutations dans la PID. Les défis comprennent l'incapacité de diagnostiquer un DIC avec un dysfonctionnement des lymphocytes T et des niveaux normaux de lymphocytes T et certains autres DIC en utilisant la méthode TREC, une infection précoce à cytomegalovirus, qui aggrave considérablement le pronostic de la greffe de cellules souches hématopoiétiques (CSH), les problèmes économiques, en particulier dans les pays à revenu faible et intermédiaire, et certaines questions éthiques. Compte tenu de l'expérience mondiale positive, il existe de nombreuses raisons pour une mise en oeuvre plus large

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Evaluation of knowledge about primary immunodeficiencies among postgraduate medical students

Cited by 9 publications

References 14 publications

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

A rare case of pigmented cutaneous malignant melanoma of the vulva

Benefits, challenges and prospects of newborn screening for primary immunodeficiency

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