Mustafa Büyükavcı

Necmettin Erbakan University

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Late vitamin K deficiency bleeding: 16 cases reviewed

Blood Coagulation & Fibrinolysis (2007)

Hakan Döneray Hüseyin Tan Mustafa Büyükavcı Cahit Karakelleoğlu

In this study, clinical and demographic features of 16 cases with late vitamin K deficiency bleeding are presented. Ages of infants were between 30 and 130 days. Their delivery histories were uneventful, and family histories for bleeding disorders were negative. All parents except one were unaware of whether their children received vitamin K at birth or not. All cases did not have any underlying illness to explain the abnormal coagulation profile. The common presenting finding was pallor (62.5%). Intracranial haemorrhage was the most common bleeding site (37.5%), and two patients (12.5%) died because of it. Late vitamin K deficiency bleeding is still an important handicap in infants. Parents and healthcare providers should be informed about the importance of vitamin K prophylaxis to prevent vitamin K deficiency in infants.

Pallor

Vitamin K deficiency

10.1097/mbc.0b013e3282010d66

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Citations (14)

Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience

Journal of Pediatric Hematology/Oncology (2016)

Zühal Keskin Yıldırım Ebba Nexø Tony Rupar Mustafa Büyükavcı

Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. We report the clinical and laboratory manifestations of 7 children diagnosed with transcobalamin deficiency. All patients were admitted between 2 and 4 months of age with anemia, thrombocytopenia, and hyperhomocysteinemia. The most common complaints at admission were pallor, weakness, and poor feeding. Genetic analysis was performed in 5 patients and it revealed the same homozygous mutation. We initially treated all patients with intramuscular injections of a maximum of 1 mg cyanocobalamin (CN-Cbl) daily and with a final dose of 1 mg per week. Hemoglobin and platelet counts significantly decreased upon decrease or cessation of CN-Cbl therapy. The patients were reevaluated between 2 and 4 years of age and all had delay in speech and walking. In conclusion, 1 mg of intramuscular CN-Cbl every week suffices for hematological improvement but not for normal neurological development in patients who all had relapse due to decrease or cessation of treatment.

Pallor

Hyperhomocysteinemia

10.1097/mph.0000000000000685

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Citations (19)

Spinal Brucellosis with Paraspinal Abscess Formation Treated with CT Guided Percutaneous Abscess Drainage

Interventional Neuroradiology (2004)

Suat Eren Mustafa Büyükavcı Naci Ezirmik Mustafa Ertek

Although brucellosis may be present in various systems, osteoarticular brucellosis is a serious complication of human brucellosis. We present two cases of Brucellar spondylitis (BS) having paraspinal abscess with epidural extension. The first case of non-complicated paraspinal abscess was treated effectively with percutaneous abscess drainage and antibrucellar chemotherapy. However, the second case with disseminated BS and multiseptated large abscess did not respond to needle drainage with medical treatment. Because of the persistence and re-growth of the abscess, he was treated with percutaneous catheter drainage using the Seldinger technique. They showed adequate radiological and clinical response to drainage and antibrucellar chemotherapy.

Spondylitis

Interventional radiology

10.1177/159101990401000407

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Citations (3)

Mature B-hücreli lösemiden kaynaklanan serebral sinovenöz trombozis ve multipl kranial palsi

Hüseyin Tan Arzu Tatar Mustafa Büyükavcı Zühal Keskin Yıldırım Özgür Yörük

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A Rare Cause of Chylothorax in Children: Gorham-Stout Syndrome

Turkish Journal of Pediatric Disease (2018)

Engin Aydın Aysel Yucak Turan Yıldız Zekeriya İlçe Bahri Elmas

Gorham-Stout disease is a complex disease in which lytic lesions of bone tissue are accompanied by chylothorax and abdominal lymphangioma.The etiology is still unknown.The diagnosis is made by the patient's clinical and laboratory findings and biopsy results.It may be fatal depending on the organs involved.Although many treatments have been described, successful results have been reported with interferon alpha 2b in recent years.We discuss the clinical diagnosis and treatment of a 5-year-old female patient with osteolytic lesions in the bones after she was referred with chylothorax.

Chylothorax

10.12956/tjpd.2018.375

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İZOLE KEMİK KİTLESİ: GRANÜLOSİTİK SARKOM OLABİLİR Mİ?

Atatürk Üniversitesi Tıp Fakültesi Cerrahi Tıp Bilimleri Dergisi (2023)

Büşra Kılıç S. Süer Ayşe ŞİMŞEK Hüsna Kalay Mustafa Büyükavcı

Giriş: Granülositik sarkom (GS) granülositik prekürsör hücrelerin ekstramedüller yayılımından kaynaklanan lokalize bir tümördür ve literatürde; chloroma, monositik sarkom, myeloid sarkom, myeloblastom, ekstramedüller myeloid hücreli tümör olarak da adlandırılmaktadır. Genellikle kemik, periost, yumuşak doku, lenf nodları veya deride lokalize olur. En yaygın paranazal sinüsler ve orbita etkilenir. GS ayrıca akut miyeloid löseminin nadir bir başlangıç prezentasyonudur. Olgu: Bu olgumuzda bacak ağrısı ve üst solunum yolu enfeksiyonu bulgularıyla başvuran 2 yaş 10 aylık kız hasta sunulmaktadır. Hastamıza yapılan periferik kandan parmak ucu yaymasında ve kemik iliği aspirasyonunda blast görülmemesi nedeniyle akut miyeloid lösemi (AML) düşünülmeyip gecikerek GS tanısı alan, daha sonra yoğun kemoterapi ile başarılı şekilde tedavisi devam eden bir olgu sunulmaktadır. Sonuç: Çocuklarda ekstramedüller kitle varlığında ayrıntılı muayene ve görüntüleme yöntemleri ile araştırılmalıdır. Akut lösemi tablosu ihtimali de akılda tutulmalıdır. Bu olgu sunumunda, torasik kostada destrüksiyona neden olan nadir bir granülositik sarkom olgusu sunulmuştur.

10.61745/jsmsau.1375162

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Different Phenotypes of a New Mutation: Two Siblings with ADA-2 Deficiency Presenting with Anemia and Neutropenia (Case Reports and Literature Review)

Asthma Allergy Immunology (2023)

Öner Özdemır Mehmet Fatih Orhan Mustafa Büyükavcı Emine Aylin Yılmaz Orhan Görükmez

Deficiency of adenosine deaminase 2 (DADA2) is a childhood-onset disease known with pleiotropic clinical manifestations due to a monogenic form of systemic vasculopathy.Although the clinical spectrum of DADA2, linked to biallelic mutations in the ADA2 gene, has significantly expanded since 2014, approximately 200 cases have been reported thus far.In this report, two siblings are presented to draw attention to an unreported mutation of DADA2 and different phenotypic features of the same missense type homozygous mutation, p.Ser50Leu (c.149C>T).Next-generation sequencing demonstrated an autosomal recessive inherited missense type p.Ser50Leu (c.149C>T) variant homozygous mutation in the ADA-2 gene.The index patient is a 10-year-old Iraqi citizen boy who was referred to us with a complaint of anemia.The patient still needed blood transfusions after 2 hematopoietic stem cell transplantations.His older brother was an 11-year-old boy who presented to the emergency with a history of recurrent lung infections since 7 years of age.Considering the genotype-phenotype relationship from literature data, although vasculitis and low ADA2 activity are defined in cases with missense mutations, immuno-hematological manifestations are remarkable in our patients rather than vasculitic manifestations.While bone marrow failure findings e.g., anemia, neutropenia, etc. are reported to be seen in the 5th and 6th decades of life, those were predominant clinical features in our patients despite their younger age.DADA2 should also be kept in mind in cases of otherwise unexplained cytopenia, especially when associated with panhypogammaglobulinaemia and bone marrow hypocellularity, irrespective of the age of the patient at presentation.

Congenital Neutropenia

10.21911/aai.102

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Citations (1)

Complementary and Alternative Medicine Use in Pediatric Oncology Patients in Eastern Turkey

Cancer Nursing (2007)

Sebahat Gözüm Duygu Arıkan Mustafa Büyükavcı

The use of complementary and alternative medicines (CAM) among children with cancer is becoming increasingly popular. Therefore, it is important to gain insight into the prevalence and factors related to the use of CAM. This study presents findings from a study of parents of 88 children with cancer who were receiving or had received conventional therapy for treatment of childhood cancer at a pediatric oncology unit in eastern Turkey. The findings indicated that 48.9% of the respondents reported the use of 1 or more CAM therapies. The most commonly used modality was herbal products such as herbal tea and herbal meal, mostly stinging nettle (Urtica dioica). The findings of this study indicate that CAM users were children who were an average of 3 years older than nonuser children and that CAM use was more prevalent among the children who had been diagnosed with cancer for a longer time than nonusers. There were no significant difference between users and nonusers regarding sociodemographic characteristics (such as age education level, economic status), hopelessness score of parents, gender of child, and treatment status. Healthcare providers should remain informed about the benefits and adverse effects of complementary and alternative therapies to discuss treatment options with patients and their families and to monitor treatment efficacy.

Complementary Medicine

Cancer Treatment

Pediatric Oncology

10.1097/00002820-200701000-00007

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Citations (84)

Miller fisher syndrome with negative Anti-GQ1b immunoglobulin G antibodies

Pediatric Neurology (2003)

Hüseyin Tan İbrahim Caner Orhan Denız Mustafa Büyükavcı

Miller-Fisher syndrome

10.1016/s0887-8994(03)00281-9

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Citations (15)

Tekrarlayan Akciğer Enfeksiyonu ve Dirençli Demir Eksikliği Anemisi Ayırıcı Tanısında Nadir Bir Antite: İdiyopatik Pulmoner Hemosiderozis

Turkish Journal of Pediatric Disease (2020)

Mustafa Büyükavcı Olena Erkun Mehmet Fatih Orhan

İdiyopatik pulmoner hemosiderozis (İPH), demir eksikliği anemisi (DEA), tekrarlayan alveoler hemoraji atakları ve hemoptizi ile seyreden ve etyolojisi tam bilinmeyen nadir bir hastalıktır. Olguların büyük çoğunluğu çocukluk döneminde görülür. Klinik olarak hemoptizi, alveoler hemoraji atakları sırasında gelişen solunum sıkıntısı, akciğer grafisinde parankimal infiltratlar ve sekonder demir eksikliği anemisi gibi bulgularla prezente olur. Bu nedenle de tekrarlayan solunum sıkıntısı ve demir eksikliği anemisine neden olan diğer hastalıklarla ayırıcı tanısı yapılmalıdır. Biz burada tekrarlayan alt solunum yolu infeksiyonu ve kistik fibrozis ön tanısıyla izlenen ve İPH tanısı alan iki yaşındaki bir olguyu sunuyoruz. Olgunun tanısı bronkoalveoler lavaj sıvısında hemosiderin yüklü makrofajlar görülerek doğrulanmış ve steroid tedavisi ile remisyon sağlanmıştır.

10.12956/tchd.725032

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Citations (0)