Bleeding Disorders Associated with Abnormal Platelets: Glanzmann Thrombasthenia and Bernard-Soulier Syndrome

Platelets, the smallest cells in the blood, are associated with hemostasis, bowel formation, tissue remodeling, and wound healing. Although the prevalence of inherited platelet disorders is not fully known, it is a rare disease group and is encountered in approximately between 10000 and 1000000. Glanzmann thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) are more frequently observed in inherited platelet disorders. In GT, the platelet aggregation stage due to deficiency or dysfunction of the platelet GPIIb/IIIa complex cannot take place. BSS is a platelet adhesion disorder due to the absence or abnormality of GPIb/IX complex on the platelet surface. If there is bleeding after easy bruising, mucous and oral cavities, menorrhagia, tooth extraction, tonsillectomy, or other surgical interventions, inherited platelet dysfunction should be considered if the platelet count is normal while the bleeding time is long. Firstly, other causes should be investigated by making differential diagnosis of GT and BSS. In this chapter, the definition, etiology, historical process, epidemiology, genetic basis, pathophysiology, clinical findings, diagnosis, differential diagnosis, and the follow-up and treatment approach of GT and BSS will be reviewed according to the current medical literature

Herpes zoster infection in early adolescence: two case reports and review of the treatment approach

Introduction: Herpes zoster is a skin infection caused by reactivation of the Varicella zoster virus that remains latent in the dorsal root ganglia, showing dermatomal spread on the skin, accompanied by a vesicular rash and itching. It is a disease of the adult age group. Although herpes zoster is more common in immunocompromised children, it is rarely seen in healthy children. Case Presentation: Two patients, 11 and 12 years old, presented with pain, itching, and rash. Patient histories indicated that they were previously healthy. Alanine aminotransferase, aspartate aminotransferase, urea, blood urea nitrogen, creatinine, and electrolyte values were within normal limits. Varicella-zoster virus (VZV) immunoglobulin (Ig) G and VZV Ig M were positive, while herpes zoster virus (HZV) Ig G and HZV Ig M were negative. Oral acyclovir treatment was started. Symptoms, treatment, and follow-up of the two cases were similar. In both patients, the lesions regressed within a week, and at the end of the second week, they recovered without complications.Conclusion: Herpes Zoster infection is rarely seen in healthy children. In this case report, we aimed to remind and discuss the clinical features during childhood

Investigation of interleukin-4 (IL-4) and leukotriene C4 synthase (LTC4s) genes in patients with asthma by next generation sequence analysis

YÖK Tez No: 631797Giriş: Astım farklı uyaranlara kars?ı artmıs? havayolu duyarlılığı ve geri dönüs?ümlü havayolu obstrüksiyonu ile karakterize, genetik ve çevresel risk faktörlerinin birles?iminden kaynaklanan tekrarlayan kronik inflamatuar bir hastalıktır. Çocukluk çağı kronik hastalıklarının en sık görülenidir. Günümüze kadar sürekli olarak prevalansı, morbiditesi ve mortalitesi artan bir hastalık haline gelmis?tir. Astım olus?umunda üç aşama sorumlu tutulmaktadır. Bunlar, artmıs? havayolu duyarlılığı, havayolu inflamasyonu ve geri dönüs?ümlü havayolu obstrüksiyonudur. Astım multifaktöryel bir hastalık olarak değerlendirilmektedir. Astımlı ebeveynlerin çocuklarında astım riski arttığı uzun zamandır bilinmektedir ve astım prediktivite indeksinin üç majör risk faktöründen biridir. Astım, basit Mendelian kalıtım sergilemeyen karmas?ık genetik yapıya sahip bir hastalıktır. Astım genetiği ile ilgili günümüzde yapılan birçok çalıs?ma mevcuttur, ama hala net olarak astım genetiği anlas?ılamamıs?tır. Bildiğimiz kadarıyla literatürde IL-4 veya LTC4S geninin yeni nesil dizi analizi yöntemi ile değerlendirildiği çalışma yoktur. Biz bu çalışma ile astım tanısıyla takip edilen hastalarda yeni nesil dizi analizi ile IL-4 ve LTC4 genindeki değişimleri ortaya koymayı amaçladık. Gereç ve Yöntem: Bu çalışma Düzce Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Kliniğinde GINA kriterlerine göre astım tanısı konulup takip edilen 50 hasta üzerinde yapılmış prospektif bir çalışmadır. İlk olarak rutin amaçlı istenilen tam kan örneklerinden geriye kalan atık kanlardan DNA izolasyon işlemi yapıldı. İzole edilen DNA örneklerinden hedeflenen gen bölgeleri, bu bölgelere spesifik primerler kullanılarak çoğaltılıp saflaştırma işlemi uygulandıktan sonra hedefe yönelik yeni nesil dizi analizi yöntemiyle bu bölgelerdeki mutasyonlar saptandı. Ayrıca hastaların demografik, klinik ve laboratuvar verileri kaydedildi. Bulgular: Çalıs?maya 32'si (%64) erkek, 18'si (%36) kız olmak üzere toplam 50 hasta alındı. Hastaların yas?ı ortalama 7,12±3,8 yıl (1-16 yıl), semptom bas?lama yas?ı ise ortalama 2,73±3,2 yıl (3 ay-13 yıl) idi. Çalışmamıza dahil edilen 50 hastanın 31'inde (%62) mutasyon saptanmıştır. Astımlı olgu grubunda IL-4 geninde intron 1'de c.-33C>T, intron 3'de c.361-9C>A, ekzon 4'te c.23G>A ve intron 3'de c.360+18 C>A mutasyonları saptandı. LTC4S geninde intron 4'te c.312-16 T>C, intron 3'de c.230-12 T>C, intron 1'de c.59-10 C>A, intron 1'de c.-33 C>T ve intron 3'de c.361-9 C>A mutasyonları tanımlandı. Sonuçlar: Astıma en sık es?lik eden hastalık allerjik rinit ve alerjik konjonktivit olarak değerlendirildi. Astım tanısı koyarken MPV düs?üklüğünün kriterlerden biri olabileceği kanaatindeyiz. Total IgE düzeylerinin astım tanısında önemli parametrelerden birisi olduğu çalıs?mamızda da görüldü. IL-4 geninde mutasyon tas?ıyıcı bireylerde akut ürtiker olus?ma olasılığı, tas?ıyıcı olmayanlara göre 5,6 kat daha fazla olduğu görüldü. IL-4 geninde homozigot olarak mutasyon saptanan olguların kliniğinin heterozigot olanlara göre daha kötü olması IL-4 gen mutasyonlarının astım ile ilis?kili olduğunu göstermis?tir. Çalıs?mamızda LTC4S geninde yüksek oranda gözlenen intron 4'te c.312-16 T>C genetik değis?imi astımla ilis?kilendirildi. Çalışmamızın astımın genetik alt yapısı ve farmakogenetik konusu üzerine yapılacak daha geniş ve kontrollü çalışmalara ışık tutacağını umuyoruz.Introduction: Asthma is a recurrent chronic inflammatory disease caused by a combination of genetic and environmental risk factors, characterized by increased airway sensitivity to different stimuli and reversible airway obstruction. It is the most common childhood chronic respiratory disease. To date, its prevalence, morbidity and mortality have become increasingly common. Three stages are held responsible for the occurrence of asthma. These are increased airway sensitivity, airway inflammation and reversible airway obstruction. Asthma is considered as a multifactorial disease. The risk of asthma in children of asthmatic parents has long been known and is one of the three major risk factors of the asthma predictive index. Asthma is a complex genetic disease that does not exhibit simple Mendelian inheritance. There are many studies on asthma genetics, but asthma genetics is still not clearly understood. To the best of our knowledge, there are no studies in the literature in which the IL-4 or LTC4S gene have been investigated by the next generation sequence analysis method. In this study, we aimed to reveal the changes in IL-4 and LTC4 genes by the next generation sequencing in patients followed up with asthma diagnosis. Materials and Method: This study is a prospective study conducted on 50 patients who were diagnosed with asthma according to GINA criteria and followed at the Pediatrics Clinic of Düzce University Medical Faculty. DNA isolation was performed from the remaining blood after routine whole blood samples. The targeted gene regions from the isolated DNA samples were amplified and purified using primers specific to these regions and mutations in these regions were determined by targeted next generation sequencing. In addition, demographic, clinical and laboratory data of the patients were recorded. Results: A total of 50 patients, 32 (64%) male and 18 (36%) female, were included in this study. The mean age of the patients was 7.12±3.8 years (1-16 years) and the mean age of onset of symptoms was 2.73±3.2 years (3 months-13 years). Mutations were detected in 31 (62%) of the 50 patients included in our study. Mutations detected in the IL-4 gene were c.-33C>T in intron 1, c.3619 C>A in intron 3, c.23 G>A in exon 4, and c.360+18 C>A in intron 3. Mutations identified in the LTC4S gene were c.312-16 T>C in intron 4, c.230-12 T>C in intron 3, c.59-10 C>A in intron 1, c.-33 C>T in intron 1, and c.361-9 C>A in intron 3. Discussion: Allergic rhinitis and allergic conjunctivitis were the most common comorbidities of asthma. We believed that low MPV might be one of the criteria in the diagnosis of asthma. Total IgE levels were found to be one of the important parameters in the diagnosis of asthma. The probability of acute urticaria in mutation carriers of the IL-4 gene was 5.6 times higher than in non-carriers. The fact that cases with homozygous mutations in the IL-4 gene were worse than those with heterozygous Clinical findings in asthmatic cases showed that IL-4 gene mutations were associated with asthma. In our study, c.312-16 T> C genetic change in intron 4, which is highly observed in LTC4S gene, was associated with asthma. We hope that our study will shed light on larger and controlled studies on the genetic background and pharmacogenetics of asthma

Potential Immunological Treatments in COVID-19 Patients

December 2019. SARS-CoV-2 infection in human was named as coronavirus disease 2019(COVID-19). It has now infected more than 69 million people worldwide, becoming anepidemic responsible for more than 1,5 million deaths until 10th of December 2020. Theepidemic still continues. This epidemic is the third epidemic caused by coronaviruses in the21st century and may be the most important infectious disease representing a major publichealth threat to the whole world. Treatments against COVID-19 are constantly updated in theliterature, based on evidence. Unfortunately, there is no definitive cure for COVID-19, and anumber of drugs for use in severe cases of COVID-19 are now being studied in a number ofnonrandomized or randomized trials. These include chloroquine, steroids, anti-inflammatory,and antiviral agents. Immunological treatments such as convalescent plasma, intravenousimmunoglobulin, monoclonal antibodies (tocilizumab, eculizumab, itolizumab etc.), andanakinra treatments are tried in COVID-19 disease. Results from some trials look promising.Quite a few reports have also stood published so far on the use of immunological treatmentsfor COVID-19 cases. In this review, we will discuss the key immunological treatments, mostlymentioned in the current literature, used in COVID-19 patients in detail

Potential Immunological Treatments in COVID-19 Patients

December 2019. SARS-CoV-2 infection in human was named as coronavirus disease 2019(COVID-19). It has now infected more than 69 million people worldwide, becoming anepidemic responsible for more than 1,5 million deaths until 10th of December 2020. Theepidemic still continues. This epidemic is the third epidemic caused by coronaviruses in the21st century and may be the most important infectious disease representing a major publichealth threat to the whole world. Treatments against COVID-19 are constantly updated in theliterature, based on evidence. Unfortunately, there is no definitive cure for COVID-19, and anumber of drugs for use in severe cases of COVID-19 are now being studied in a number ofnonrandomized or randomized trials. These include chloroquine, steroids, anti-inflammatory,and antiviral agents. Immunological treatments such as convalescent plasma, intravenousimmunoglobulin, monoclonal antibodies (tocilizumab, eculizumab, itolizumab etc.), andanakinra treatments are tried in COVID-19 disease. Results from some trials look promising.Quite a few reports have also stood published so far on the use of immunological treatmentsfor COVID-19 cases. In this review, we will discuss the key immunological treatments, mostlymentioned in the current literature, used in COVID-19 patients in detail

What does the insulin pump change in children with type 1 diabetes? One-year clinical follow-up

WOS: 000485922405057

A Rare Cause of Acute Renal Failure and Thrombocytopenia in Child: A Case Due to Hantavirus Infection

On yedi yaşında erkek hasta 3 gündür devam eden ateş, halsizlik ve baş ağrısı şikayeti ile aile hekimliğine başvurmuş ve yapılan tetkiklerinde trombositopeni tespit edilmesi üzerine tarafımıza yönlendirilmiş. Hastanemize başvurduğunda orofarinkste hiperemi, 39C ateş, belirgin halsizlik, trombositopeni ve böbrek yetmezliği olduğu görüldü. Hastanın periferik kan yaymasında atipik hücre görülmedi. Hastadan parvovirüs, sitomegalovirüs (CMV), Epstein-Barr virüs (EBV), hepatit belirteçleri, brusella aglütinasyon ve Gruber Widal testleri istenildi ve sonuçlar negatif saptandı. Hastadan alınan ayrıntılı anamnezde ölmüş fareleri yaktığı öğrenildi. Hantavirüsün serolojik tetkikinde hem indirekt immünfluoresan assay (IFA) hem de Biot Analysis’de IgG ve IgM antikorları pozitif saptandı. Hastada kanamalı ateş ile seyreden akut renal sendroma yol açan hantavirüs enfeksiyonu düşünüldü ve sadece semptomatik tedavi uygulandı.Seventeen years old yo male patient had applied to the primary care center for his complaints; fever, malaise and headache, and was he was investigated for causes thrombocytopenia of after thrombocytopenia had been detected in the workup. He had hyperaemia in oropharynx, 39C fever, noticaable malaise, thrombocytopenia and renal failure at admittance to our clinic. No atypic cell was seen in peripheral blood smear of the patient. Laboratory tests for parvovirus, cytomegalovirus (CMV), Epstein-Barr virus (EBV), brucella agglutination and gruber widal test and markers for hepatitis were examined and the results were neg-ative. A detailed patient history showed that we had informed that the patient had burned dead mice bodies. Serolohical investigation showed that IgG and IgM antibodies were positive in both Biot Analysis and in-direct immunofluorescence assay (IFA). We observed a hantavirus infec-tion causing haemorrhagic fever with renal syndrome (HFRS) and corre-spondingly applied symptomatic treatment

Çocuk acil serviste supraventriküler taşikardi yönetimi: Bir olgu sunumu

Supraventriküler taşikardi, çocukluk yaş grubunda görülebilen önemli kardiyak sorunlardan biridir ve sıklığı 1/250 - 1/1000 arasında değişir. Huzursuzluk, emme bozukluğu, taşipne, taşikardi ve kalp yetersizliği ile bulgu verebilir. Genellikle supraventriküler taşikardili hastalarda eşlik eden bir doğumsal kalp hastalığı yoktur, antiaritmikler ile kontrol altına alınabilir. Kontrol altına alınamayan vakalar ağır seyretmektedir ve kalp yetmezliği bulguları ile ortaya çıkabilir. Tedavide acil yaklaşım çok önemlidir ve tedavide kullanılan farklı ilaçlar acil servislerde hazır bulundurulmalıdır. Bu makalede huzursuzluk şikayetiyle çocuk acil servise başvuran 55 günlük bebek tartışılıp adenozin ile taşikardisi kontrol altına alınan supraventriküler taşikardi vakası sunularak, tedavi yaklaşımı literatür bilgileri eşliğinde gözden geçirilmiştirSupraventricular tachycardia is one of the major cardiac problems that can be seen in childhood and its frequency ranges from 1/250 - 1/1000. It may present with symptoms of restlessness, sucking disorder, tachypnea, tachycardia and heart failure. Generally, patients with supraventricular tachycardia do not have a concomitant congenital heart disease, they can be controlled by antiarrhythmics. Uncontrolled cases may be severe and may present with signs of heart failure. An urgent approach to treatment is very important, and different drugs used in treatment should be available in the emergency department. In this article, a 55-day-old baby who was admitted to the emergency department with the complaint of restlessness was presented and a case of supraventricular tachycardia with adenosine and tachycardia was presented. © 2019, Duzce University Medical School. All rights reserved