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  1. Article ; Online: COVID-19 Pandemic and Thalassemia Major Patients: Transfusion Practice and Treatment Assessment.

    Oymak, Yesim / Karapinar, Tuba H

    Journal of pediatric hematology/oncology

    2020  Volume 43, Issue 8, Page(s) e1073–e1076

    Abstract: Background: When the COVID-19 epidemic occurred for the first time in December 2019, the governments worldwide took some restriction measures for slowing the spread of novel coronavirus. Eventually, there was a considerable decrease in volunteer blood ... ...

    Abstract Background: When the COVID-19 epidemic occurred for the first time in December 2019, the governments worldwide took some restriction measures for slowing the spread of novel coronavirus. Eventually, there was a considerable decrease in volunteer blood donations. Regular transfusions and follow-up of patients with thalassemia major (TM) should be maintained during this period. It is possible that the treatment of the patients with TM may hinder due to the difficulty of reaching the treatment center and the difficulty of blood supply. Thus, in this study, we aimed to investigate whether there were any differences in the follow-up and treatment of the patients with TM during the outbreak.
    Materials and methods: Sixty-one patients with TM who were followed up in our center without COVID-19 contact history and symptoms were included in this study. The demographic features and red blood cell volume per kilogram they received, pretransfusion hemoglobin, serum ferritin (SF) level, biochemical parameters, and transfusion interval were recorded. The difference between the arithmetic mean of the data before and during the pandemic was evaluated.
    Results: In this study, 61 patients with TM (32 males/29 females, mean age 13.9±6.8 y) were evaluated. The mean pretransfusion hemoglobin value was 9.14±0.77 g/dL and 8.87± 0.80 g/dL before and during the pandemic, respectively (P=0.023). There was no difference between before and during the pandemic concerning transfusion interval and transfusion volume. However, SF levels increased above 1000 ng/mL in 16.6% of patients.
    Conclusion: Although blood donation decreased significantly during the pandemic, it was observed in this study that the blood needs of patients with TM could be provided. The results of the SF level showed that the management of chelation therapy should be more meticulous. However, we should be ready for the challenges in the transfusion practice of patients with TM due to fluctuations in the COVID-19 pandemic.
    MeSH term(s) Adolescent ; Blood Donors/supply & distribution ; Blood Transfusion/statistics & numerical data ; COVID-19/epidemiology ; COVID-19/virology ; Continuity of Patient Care/statistics & numerical data ; Female ; Health Services Accessibility ; Humans ; Male ; Patient Acceptance of Health Care ; Patient Compliance ; Practice Patterns, Physicians'/standards ; SARS-CoV-2/isolation & purification ; Turkey/epidemiology ; beta-Thalassemia/pathology ; beta-Thalassemia/therapy
    Language English
    Publishing date 2020-12-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Why G6PD Deficiency Should Be Screened Before COVID-19 Treatment With Hydroxychloroquine?

    Oymak, Yesim / Karapinar, Tuba H / Devrim, İlker

    Journal of pediatric hematology/oncology

    2020  Volume 43, Issue 1, Page(s) 35–36

    MeSH term(s) COVID-19/complications ; Glucosephosphate Dehydrogenase Deficiency/complications ; Glucosephosphate Dehydrogenase Deficiency/diagnosis ; Hemolysis/drug effects ; Humans ; Hydroxychloroquine/administration & dosage ; Hydroxychloroquine/adverse effects ; Hydroxychloroquine/therapeutic use ; COVID-19 Drug Treatment
    Chemical Substances Hydroxychloroquine (4QWG6N8QKH)
    Keywords covid19
    Language English
    Publishing date 2020-06-09
    Publishing country United States
    Document type Letter
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000001864
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Why G6PD Deficiency Should Be Screened Before COVID-19 Treatment With Hydroxychloroquine?

    Oymak, Yesim / Karapinar, Tuba H. / Devrim, İlker

    Journal of Pediatric Hematology/Oncology

    2020  Volume Publish Ahead of Print

    Keywords Pediatrics, Perinatology, and Child Health ; Oncology ; Hematology ; covid19
    Language English
    Publisher Ovid Technologies (Wolters Kluwer Health)
    Publishing country us
    Document type Article ; Online
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/mph.0000000000001864
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: The evaluation of Candida-related central line-related bloodstream infections in pediatric cancer patients: A pre- and post-intervention study.

    Devrim, İlker / Celebi, Miray Yılmaz / Karakaya, Nurgul / Sahinkaya, Sahika / Acar, Sultan Okur / Cem, Ela / Demirağ, Bengü / Oruc, Yeliz / Kara, Aybuke Akaslan / Oymak, Yesim / Karapınar, Tuba Hilkay / Bayram, Nuri

    Journal of infection prevention

    2023  Volume 24, Issue 5, Page(s) 219–222

    Abstract: Aim/objections: The purpose of this study was to assess the efficacy of a central line maintenance bundle in preventing catheter-related (implanted venous access devices, port) Candida bloodstream infections.: Methods: The study encompassed two ... ...

    Abstract Aim/objections: The purpose of this study was to assess the efficacy of a central line maintenance bundle in preventing catheter-related (implanted venous access devices, port) Candida bloodstream infections.
    Methods: The study encompassed two distinct time periods, namely, pre-bundle and bundle. The number of catheter-related bloodstream infections (CRBSI) episodes per catheter days for each timeframe was determined.
    Findings/results: Upon implementation of the central line bundle, the rate of CRBSI reduced significantly from 4.27 per 1000 central line days in the pre-bundle period to 1.0 per 1000 central line days in the bundle period (
    Discussion: Using a central line bundle to avoid CRBSIs in pediatric cancer patients with ports led to a significant decrease in Candida species-related CRBSIs.
    Language English
    Publishing date 2023-08-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 2595000-9
    ISSN 1757-1782 ; 1757-1774
    ISSN (online) 1757-1782
    ISSN 1757-1774
    DOI 10.1177/17571774231191334
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.

    Odaman Al, Isik / Oymak, Yesim / Hazan, Filiz / Gursoy, Semra / Ozturk, Tulay / Bag, Ozlem / Gozmen, Salih / Karakaya, Nurgul / Karapinar, Tuba Hilkay

    Sisli Etfal Hastanesi tip bulteni

    2022  Volume 56, Issue 1, Page(s) 161–165

    Abstract: Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious and if left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. ... ...

    Abstract Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious and if left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. Herein, we present an infant girl who was diagnosed with IMO during evaluations for her hypotonicity and thrombocytopenia. A novel mutation of the chloride voltage-gated channel 7 (CLCN7) gene was also reported. A 10-day-old female patient was referred to our hospital for evaluation of hypotonicity. Her physical examination was normal, other than hypotonicity. Laboratory analysis revealed thrombocytopenia and hypocalcemia. In the progress, while she was followed in outpatient clinic, hepatosplenomegaly was detected at the age of 3 months. IMO was suspected with the findings of hepatosplenomegaly, cytopenia, hypocalcemia, difficulty of obtaining bone marrow, peripheral smear findings, and hearing loss. The X-ray of the bones was consistent with IMO. A novel pathogenic homozygous c.1504>T (p.Arg502Trp) mutation in CLCN7 gene was revealed. IMO is a rare disorder and it is important to differentiate this entity for better clinical outcome. The presence of neurological and hematological findings, organomegaly, hearing loss, and vision disorders must attract attention to IMO.
    Language English
    Publishing date 2022-03-28
    Publishing country Turkey
    Document type Case Reports
    ZDB-ID 3026862-X
    ISSN 1308-5123 ; 1302-7123
    ISSN (online) 1308-5123
    ISSN 1302-7123
    DOI 10.14744/SEMB.2021.88964
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

    Isik, Esra / Aydinok, Yesim / Albayrak, Canan / Durmus, Basak / Karakas, Zeynep / Orhan, Mehmet Fatih / Sarper, Nazan / Aydın, Sultan / Unal, Selma / Oymak, Yesim / Karadas, Nihal / Turedi, Aysen / Albayrak, Davut / Tayfun, Funda / Tugcu, Deniz / Karaman, Serap / Tobu, Mahmut / Unal, Ekrem / Ozcan, Alper /
    Unal, Sule / Aksu, Tekin / Unuvar, Aysegul / Bilici, Mustafa / Azik, Fatih / Ay, Yilmaz / Gelen, Sema Aylan / Zengin, Emine / Albudak, Esin / Eker, Ibrahim / Karakaya, Taner / Cogulu, Ozgur / Ozkinay, Ferda / Atik, Tahir

    European journal of haematology

    2024  

    Abstract: Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation ... ...

    Abstract Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.
    Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction.
    Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR.
    Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.
    Language English
    Publishing date 2024-03-31
    Publishing country England
    Document type Journal Article
    ZDB-ID 392482-8
    ISSN 1600-0609 ; 0902-4441
    ISSN (online) 1600-0609
    ISSN 0902-4441
    DOI 10.1111/ejh.14194
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Akut Lenfoblastik Lösemide Flow Sitometri ile İmmünofenotiplemenin Prognoz Üzerine Etkileri

    Sultan Aydi̇n Köker / Raziye Vergi̇n / Yesim Oymak / Dilek İnce / Fearh Genel

    Journal of Contemporary Medicine, Vol 11, Iss 1, Pp 1-

    2021  Volume 7

    Abstract: Giriş: Akut lenfoblastik löseminin (ALL) tanı ve prognozu için immünofenotip alt gruplarının tanımlanması çok önemlidir. Gereç ve Yöntem: Çalışmaya TR-ALL 2000 (modifiye) BFM tedavi protokolü uygulanan 105 ALL olgu (65 erkek, 40 kadın; ortalama yaş 5.9 ± ...

    Abstract Giriş: Akut lenfoblastik löseminin (ALL) tanı ve prognozu için immünofenotip alt gruplarının tanımlanması çok önemlidir. Gereç ve Yöntem: Çalışmaya TR-ALL 2000 (modifiye) BFM tedavi protokolü uygulanan 105 ALL olgu (65 erkek, 40 kadın; ortalama yaş 5.9 ± 3.8 yıl) çalışmaya dahil edildi. Bulgular: EGIL sınıflaması dağılımları pro-B ALL (n = 1), common B ALL (n = 46), pre-B ALL (n = 40), pre-T ALL (n = 8), kortikal T ALL (n = 6) ve matür T ALL (n = 4). T ALL grubunda lökosit ≥100.000 / mm³, lenfadenopati ≥2 cm, mediastinal tutulum yaygın olarak tespit edildi. T ALL, 8.gün periferik kan yaymasında blast sayısı ve 15. gün kemik iliği aspirasyonu (KİA)’ nundaki blast sayısına göre kemoterapiye kötü yanıt gösterdiği saptandı. Tedavinin indüksiyon döneminde nüks, mortalite ve ölüm oranı T ALL grubunda sık olarak görüldü. Tek değişkenli analizle gösterilen prognostik potansiyele sahip olan değişkenler tanı anında lökosit sayısı, hepatomegali, splenomegali ve lenfadenopati, 8. gün steroid yanıtı, 15. gün KİA yanıtı, risk grubu, nüks ve immünofenotip idi. Çok değişkenli Cox regresyon analizinde ise sadece lökosit sayısının (HR 2.51, p
    Keywords akım sitometrisi ; immünofenotipleme ; akut lenfoblastik lösemi ; çocuk ; flow cytometry ; immunophenotyping ; acute lymphoblastic leukemia ; children ; Medicine ; R
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Rabia Yılmaz
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: The Effects of Immunophenotyping with Flow Cytometry on Prognosis in Acute Lymphoblastic Leukemia

    Sultan Aydin Köker / Fearh Genel / Raziye Vergin / Dilek İnce / Yesim Oymak

    Journal of Contemporary Medicine, Vol 11, Iss 1, Pp 22-

    2021  Volume 28

    Abstract: Background: The identification of immunophenotype subgroups is very important for the diagnosis and prognosis of acute lymphoblastic leukemia(ALL). Material and Methods: The study included 105 children with ALL(65 males, 40 females; mean age 5.9±3.8 ... ...

    Abstract Background: The identification of immunophenotype subgroups is very important for the diagnosis and prognosis of acute lymphoblastic leukemia(ALL). Material and Methods: The study included 105 children with ALL(65 males, 40 females; mean age 5.9±3.8 years) who were treated TR-ALL 2000(modified) BFM treatment protocol. Results: The distributions of EGIL classification were pro-B ALL(n=1), common B ALL(n=46), pre-B ALL(n=40), pre-T ALL(n=8), cortical T ALL(n=6), and mature T ALL(n=4). Leukocyte≥100,000/mm³, lymphadenopathy≥2 cm, mediastinal involvement were commonly identified in T ALL group. T ALL had a poor response to chemotherapy according to 8th-day peripheral circulation blast counts and 15th-day bone marrow aspiration(BMA) blast counts. The recurrence, mortality, and death rate in the induction period of treatment were frequently detected in T ALL group. The variables that had prognostic potential, as indicated by univariate analyses, were leukocyte count, hepatomegaly, splenomegaly, and lymphadenopathy at the time of diagnosis, 8th-day steroid response, 15th-day BMA response, risk group, recurrence, and immunophenotyping. Multivariate Cox regression analysis demonstrated that only the leukocyte count(HR 2.51, p < 0.001) was a predictor of prognosis. Conclusion: Immunophenotyping may be effective in the diagnosis and prognosis of ALL, identification of risk groups, and in risk-based treatment planning. T ALL had a poor prognosis.
    Keywords flow cytometry ; immunophenotyping ; acute lymphoblastic leukemia ; children ; akım sitometrisi ; immünofenotipleme ; akut lenfoblastik lösemi ; çocuk ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Rabia Yılmaz
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

    Kose, Engin / Besci, Ozge / Gudeloglu, Elif / Suncak, Suzan / Oymak, Yesim / Ozen, Selime / Isguder, Rana

    Journal of pediatric endocrinology & metabolism : JPEM

    2020  Volume 33, Issue 11, Page(s) 1487–1499

    Abstract: Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ...

    Abstract Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene. Case presentation 4-month-old twins were admitted with fever, respiratory distress, vomiting, diarrhea, and failure to thrive. Physical examination findings revealed developmental delay and hypotonia with no head control, and laboratory findings were severe anemia, neutropenia, and hypogammaglobulinemia. Despite normal vitamin B12 and folate levels, homocysteine and urine methylmalonic acid levels were elevated in both patients. Bone marrow examinations revealed hypocellular bone marrow in both cases. The patients had novel pathogenic homozygous c.241C>T (p.Gln81Ter) variant in the TCN2 gene. In both cases, with intramuscular hydroxycobalamin therapy, laboratory parameters improved, and a successful clinical response was achieved. Conclusions In infants with pancytopenia, growth retardation, gastrointestinal manifestations, and immunodeficiency, the inborn error of cobalamin metabolism should be kept in mind. Early diagnosis and treatment are crucial for better clinical outcomes. What is new? In literature, to date, less than 50 cases with TC deficiency were identified. In this report, we presented twins with TCN2 gene mutation. Both patients emphasized that early and aggressive treatment is crucial for achieving optimal outcomes. In this report, we identified a novel variation in TCN2 gene.
    MeSH term(s) Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/drug therapy ; Amino Acid Metabolism, Inborn Errors/genetics ; Codon, Nonsense/genetics ; Consanguinity ; Diseases in Twins/diagnosis ; Diseases in Twins/drug therapy ; Diseases in Twins/genetics ; Female ; Homozygote ; Humans ; Hydroxocobalamin/administration & dosage ; Infant ; Injections, Intramuscular ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Transcobalamins/deficiency ; Transcobalamins/genetics ; Turkey ; Twins, Dizygotic
    Chemical Substances Codon, Nonsense ; TCN2 protein, human ; Transcobalamins ; Hydroxocobalamin (Q40X8H422O)
    Language English
    Publishing date 2020-08-21
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2020-0096
    Database MEDical Literature Analysis and Retrieval System OnLINE

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