Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome

Damar, İbrahim Halil; Eröz, Recep; Kılıçaslan, Önder

doi:10.18521/ktd.823900

Cited by 3 publications

(3 citation statements)

References 23 publications

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“…Geç dönem tekrarlayan gebelik kayıplarında ise özellikle trombofili, anatomik sebepler, immünolojik nedenler daha olası olarak düşünülmektedir (7,11). Yeni nesil dizileme teknolojilerinin kullanıma girmesiyle birlikte birçok alanda kullanıldığı gibi (27)(28)(29) gebelik kayıplarında etiyolojide yer alan genetik faktörlerden sadece kromozom anomalileri değil, tek gen mutasyonları da çalışılabilir hale gelmiştir (30). Yüksek verimli bir teknoloji olan tam ekzom dizilime (WES) gibi yeni nesil dizi analizi sistemleri, günümüzde TGK ile ilgili nedensel genleri ve varyantları tanımlamak için sıklıkla kullanılmaya başlanmıştır (27,31).…”

Section: Discussionunclassified

Tekrarlayan Gebelik Kayıpları Nedeniyle Çalışılan 306 Çiftin Kromozom Analizi ve Trombofili Parametrelerinin Değerlendirilmesi: Tek Merkez Deneyimi

Doğan

Gezdirici

YAVAŞ

et al. 2022

Sağlık Bilimlerinde Değer

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Amaç: Bu çalışmanın amacı, hastanemize tekrarlayan gebelik kaybı nedeniyle başvuran çiftlere uygun genetik danışmanlık verebilmek için hem majör kromozom anomalilerinin hem de trombofili parametrelerinin etiyolojideki rolünü araştırmaktır. Gereç ve Yöntemler: Çalışmamıza tekrarlayan gebelik kaybı nedeniyle Başakşehir Çam ve Sakura Şehir Hastanesi Genetik Hastalıklar Değerlendirme Merkezi'ne başvuran toplam 306 çift dâhil edildi. Tüm hastalarda kromozom analizleri ve 306 bayanda trombofili parametrelerinin analizleri gerçekleştirildi. Bulgular: Çalışmamızda toplam 306 çiftin 13’ünde (%4,25) polimorfizm dışında kalan kromozomal anomaliler tespit edildi. 4 hastada robertsonian translokasyon, 3 hastada resiprokal traslokasyon, 4 hastada mozaik kromozom kuruluşu, 1 hastada yapısal kromozal dengesizlik (derivatif kromozom) ve 1 hastada sayısal kromozal anomali varlığı tespit edilmiştir. Geriye kalan 293 çiftin kromozom analizi normaldi. Çalışmamızda trombofili parametreleri analiz edilen 306 bayan olgunun yaklaşık %10’unda Faktör V Leiden varyantı saptanırken, Faktör II G20210A varyantı ise yaklaşık %3,5 oranında saptanmıştır. 3 hastada (%1) Faktör V Leiden varyantı homozigot, 27 hastada ise Faktör V Leiden varyantı (%8,8) heterozigot olarak saptanmıştır. 10 hastanın (%3,3) Faktör II G20210A varyantını heterozigot olarak taşıdıkları saptanmıştır. Faktör II G20210A varyantını homozigot olarak taşıtan bir hasta çalışmamızda saptanmamıştır. Sonuç: Mevcut bilgiler ve geçmişteki literatür çalışmaları eşliğinde tekrarlayan gebelik kaybı nedeniyle değerlendirilen çiftlerde etiyolojiyi aydınlatmak için kromozom analizi ve trombofili parametrelerinin değerlendirilmesini ve bu parametrelerde ilişkili olduğu düşünülen bir neden saptandığında tedavi imkanları bulunduğundan dolayı özellikle yardımcı üreme tekniklerinden önce bu analizlerin yapılmasını önermekteyiz.

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Section: Discussionunclassified

Tekrarlayan Gebelik Kayıpları Nedeniyle Çalışılan 306 Çiftin Kromozom Analizi ve Trombofili Parametrelerinin Değerlendirilmesi: Tek Merkez Deneyimi

Doğan

Gezdirici

YAVAŞ

et al. 2022

Sağlık Bilimlerinde Değer

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“…This is due to the fact that the carrier of hereditary thrombophilia gene variants has been associated with a complicated course and mortality in patients with COVID-19. This is especially true for high-risk groups -individuals who, which according to scientific literature, are more likely to carry mutations in the genes of hereditary thrombophilia -persons with Down's syndrome, and those who have a history of cardiovascular diseases, reproductive losses, poor response to therapy with antithrombotic drugs, etc [10,11,12,13,14].…”

Section: / XXVIII /mentioning

confidence: 99%

Leiden mutation (rs6025) in a severe COVID-19 pneumonia patient with Down syndrome: a clinical case

Pokhylko,

Cherniavska,

Fishchuk

et al. 2023

Med. perspekt.

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COVID-19 was first reported in December 2019 in Wuhan (Hubei Province, China). Later, the pandemic of this disease took the world by storm, challenging the medical community. Its clinical manifestations vary from asymptomatic to a severe course that requires hospitalization and intensive therapy with oxygen support. The mortality rate in patients with a severe course of COVID-19 can exceed 50% The majority of fatal cases of COVID-19 were associated with thrombotic events, despite the prophylactic use of anticoagulant therapy. Numerous theoretical overviews and research articles indicate the need for genetic testing in patients with COVID-19 to determine the genetic profile of proteins involved in thrombophilia. According to the researchers, the Leiden mutation (G1691A, rs6025) of the FV gene is one of the promising candidates for testing. The aim of the work was to demonstrate the clinical features of the severe course of COVID-19 in the presence of the Leiden mutation. 58 patients with COVID-19 of the intensive care unit were genotyped. The Leiden mutation in the heterozygous state was found only in one patient, who had Down syndrome. The Leiden mutation was detected with a frequency of 1.72% in the investigated group. The described clinical case clearly showed that individuals with Down syndrome, associated with hereditary thrombophilia are at risk of undesirable clinical consequences in the treatment of COVID-19. The condition of the patient with the Leiden mutation was severe when admitted to the hospital. The score according to the sequential organ failure assessment scale was 2 points. Bilateral multisegmental pneumonia was detected on the X-ray. On the second day after admission, due to the development of acute respiratory distress syndrome and multiple organ failure, the patient was transferred to the intensive care unit, where he received oxygen therapy through a facial mask. Medical treatment was carried out according to the protocol: non-steroidal anti-inflammatory drugs, antibacterial therapy, anticoagulants, sympatho¬mimetics, and glucocorticosteroids. Despite the medical measures taken, progression of respiratory failure, renal failure, and portal hypertension was noted. On the 11th day, the patient developed asystole. Resuscitation measures were unsuccessful. Thus, the described case of a severe course of COVID-19 in a carrier of a heterozygous variant of the Leiden mutation with Down syndrome confirms the recommendations regarding the need for genetic testing for thrombophilia in high-risk groups and the appointment of personalized measures to prevent complications.

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“…Changes in chromosome structure and number can cause various conditions ranging from dysmorphic appearance to recurrent fetal loss and even infertility (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11). Today, DNA sequencing platforms are quite advanced with the developing technology and can detect structural and point mutations in DNA structure.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

YAVAŞ,

DOĞAN,

ERÖZ

et al. 2023

Konuralp Tıp Dergisi

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Objective: Genetic testing for male infertility is rarely performed in our country. Male infertility is caused by chromosome number or structural problems, Y chromosome deletions and gene alterations. Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 3-10% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, we aimed to determine both the chromosomal structure and the microdeletion of the azoospermic factor (AZF) region on the Y chromosome in infertile men admitted to our center before the application of assisted reproductive techniques. Method: We studied 327 patients who applied to our laboratory for routine analysis. Chromosome analysis was performed from peripheral blood by conventional cytogenetic method. DNA was isolated from peripheral blood and Y chromosome microdeletion was analyzed by fragment analysis method with Y chromosome microdeletion detection kit. Results: Out of 327 patients, 32 had cytogenetic and 18 had molecular abnormalities and 4 had both cytogenetic and molecular abnormalities. Numerical and structural anomalies were detected in patients with anomalous karyotype. Among the patients with Y microdeletions, 1 patient had AZFa, 2 patient had AZFb, 6 patients had AZFc, 3 patients had AZFc+d, 2 patients had AZFb+c+d, 1 patient had AZFb+c+sY160, 1 patient had AZFa+b+d+c+sY90, and 2 patient had AZFb+d+c+sY90. Conclusion: Our study shows that chromosomal abnormalities and Y chromosome microdeletions are important causes of male infertility and that chromosome analysis and Y chromosome microdeletion tests should be performed to explain these abnormalities. It also emphasizes the importance of genetic counseling in explaining male infertility.

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Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome

Abstract: Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C,

Cited by 3 publications

References 23 publications

Tekrarlayan Gebelik Kayıpları Nedeniyle Çalışılan 306 Çiftin Kromozom Analizi ve Trombofili Parametrelerinin Değerlendirilmesi: Tek Merkez Deneyimi

Tekrarlayan Gebelik Kayıpları Nedeniyle Çalışılan 306 Çiftin Kromozom Analizi ve Trombofili Parametrelerinin Değerlendirilmesi: Tek Merkez Deneyimi

Leiden mutation (rs6025) in a severe COVID-19 pneumonia patient with Down syndrome: a clinical case

Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

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