Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü Yil University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yüzüncü Yil University Dursun Odabas Medical Center between January 2008 and April 2018 were reviewed retrospectively. Data on such patient characteristics as present genetic mutations, age, gender, age at diagnosis, presenting symptoms, clinical findings, and platelet count and volume were garnered from the patient records. Of the 12 patients identified with genetic mutations, six had the same type of mutation, while four were identified with novel mutations that have to date not been defined in literature. Of these four mutations, three were located in the ITGA2B gene and one in the ITGB3 gene. The present study identified no significant association between the genetic and clinical findings of the patients. Novel mutations were identified in four cases in the present study. No association was found between the mutation type, and the bleeding scores and bleeding phenotypes of the patients. Further studies involving a larger number of patients are required to determine the relationship between the genotypes and clinical findings in patients with GT.

Evaluation of Renal Function Disorder With Urinary Neutrophil Gelatinase-associated Lipocalin Level in Patients With ß-Thalassemia Major.

BACKGROUND AND AIM: Neutrophil gelatinase-associated lipocalin (NGAL) is found in the granules of human neutrophils, with many diverse functions. Expression of NGAL is induced under various pathophysiological conditions, for example, infection, inflammation, kidney injury, cardiovascular disease, burn injury, and intoxication, and it has an important antiapoptotic and anti-inflammatory role. PATIENTS AND METHODS: A total of 37 patients with thalassemia disease ß-thalassemia major (24 male and 13 female individuals) and 37 healthy controls (17 male and 20 female) were enrolled in this study. All patients were regularly transfused, and all of them were using oral chelator, deferasirox. RESULTS: NGAL and cystatin C levels were significantly higher in the case group than in the control group. CONCLUSION: In patients with ß-thalassemia major, renal damage can occur owing to regular blood transfusion. Urinary NGAL levels in these patients may be considered as a marker for early renal injury.

Carbamazepine-induced DRESS syndrome leading to reversible myocarditis in a child.

DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome is a rare type of delayed drug hypersensitivity reaction characterised by fever, skin rash, lymphadenopathy, and visceral involvement, which can be life threatening and is a childhood event. An eight-year-old boy was admitted with complaints of extensive rash and fever three weeks after the onset of treatment with carbamazepine for a diagnosis of epilepsy. Fever, as well as patches and plaques with indeterminate limits that tended to merge and were non-blanchable on a widespread erythematous layer, were revealed in physical examination. Extensive cervical, submandibular, and inguinal lymphadenopathy was observed. We present ours as the second case of myocarditis secondary to DRESS syndrome after carbamazepine use in the literature.

Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child.

Typhoid fever is an acute and systemic infectious disease that is specific to humans and is caused by Salmonella typhi. Patients may present with different findings ranging from simple fever to multiple organ failure. Hemophagocytosis and rhabdomyolysis are rare complications of typhoid fever. In this study, we presented a case of hemophagocytic lymphohistiocytosis and rhabdomyolysis in a 14-year-old girl who migrated from Mosul, Iraq, 1 month ago.

Hydatid cyst involvement of both pulmonary arteries in a 14-year-old girl.

Hydatid disease is the most common mediterranean parasitic infection; it commonly affects the liver and lungs and rarely involves multiple organs. A 14-year-old girl presented with a 1-year history of dyspnoea and fatigue. She was found to have pulmonary hypertension owing to hydatid cysts in the right ventricle and both pulmonary arteries. After administration of albendazole she underwent pulmonary endarterectomy and a calcified hydatid cyst was removed from the right ventricle. She made a complete recovery and remained on albendazole for 6 months.

Wiskott-Aldrich syndrome: Two case reports with a novel mutation.

BACKGROUND: The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema. AIM: In this case report, we present our experience about two cases diagnosed with a new mutation. METHODS: We report phenotypical and laboratory description of two cases with WAS. RESULTS: We, for the first time, detected a new hemizygote mutation of WAS gene (NM_000377.2 p.M393lfs*102 (c.1178dupT)) in two patients. The first case was an 11-month-old boy presenting with complaints of recurrent soft tissue infection, ear infection, anemia, and thrombocytopenia with a low platelet volume. The second case was a 2-month-old boy presenting with thrombocytopenia and a low platelet volume. Both cases were the first-degree relatives: they were cousins and their mothers were sisters. CONCLUSION: Herein, we report two cases of WAS and a new gene mutation which would disrupt the WAS protein function within the Polyproline (PPP) domain. This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.

Hematologic Findings in Children With Brucellosis: Experiences of 622 Patients in Eastern Turkey.

The aim of the present study was to present the hematologic findings of 622 cases diagnosed with acute brucellosis. Medical records of children with brucellosis, admitted to Yuzuncu Yil University Hospital over a 6-year period, were analyzed retrospectively. Three hundred ninety-seven (63.8%) patients were male and 225 (36.2%) were female. The mean age was 11 years (range, 1 to 16 y). The mean hematologic values were as follows: hemoglobin 9.4 (3.4 to 17) g/dL, hematocrite 28% (12% to 50%), leukopenia 2.8 (1.1 to 33)×10/L, leukocytosis 13.7 (1.1 to 33)×10/L, and platelets 79 (3 to 972)×10/L. An overall 28.6% of patients were found to have anemia, alone or in combination with leukopenia or thrombocytopenia. Sixteen percent of patients had thrombocytopenia, 13.9% had leukopenia, 7.7% had pancytopenia, and 4% had both leukopenia and thrombocytopenia. Hematologic complications such as anemia, thrombocytopenia, and leukopenia are more frequently seen in acute brucellosis cases. However, acute brucellosis should also be considered in the differential diagnosis in the presence of other hematologic abnormalities such as severe thrombocytopenia, bicytopenia, and pancytopenia.