67 research outputs found
Sickle cell trait in association with HB H : a new patient from the Mediterranean region
Only five Hb S heterozygotes with an associated Hb H Disease i.e. the ASH condition or AS: --/-α have been defined in molecular detail. These had ancestries of Saudi-Arabian, Black or mixed Black and Chinese origin. We have studied a sixth patient who was from Turkey. The propositus was detected at birth with Hb Bart's at 27.6%. This declined to 1.6% at nine months, while the proportion of Hb S which was 5.1% at one month increased to 18.0% at one year.peer-reviewe
Atrioventricular thrombus in a 14-year-old patient: a case report
Right atrioventricular thrombus was diagnosed by echocardiography in a 14-year-old boy. Thrombus was reached through the right ventricle to the pulmonary artery and it was caused to tricuspit valve insufficiency. Surgical thrombectomy was performed and, he was treated with oral anticoagulation in postoperative period
Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review
Immunoglobulin-A vasculitis (IgAV) is classically a childhood small-sized blood vessel vasculitis with predominant involvement of the skin. Gastrointestinal and joint manifestations are common in patients diagnosed with this condition. Nephritis, which is more severe in adults, constitutes the most feared complication of this vasculitis. The molecular bases underlying the origin of IgAV have not been completely elucidated. Nevertheless, several pieces of evidence support the claim that genes play a crucial role in the pathogenesis of this disease. The human leukocyte antigen (HLA) region is, until now, the main genetic factor associated with IgAV pathogenesis. Besides a strong association with HLA class II alleles, specifically HLA-DRB1 alleles, HLA class I alleles also seem to influence on the predisposition of this disease. Other gene polymorphisms located outside the HLA region, including those coding cytokines, chemokines, adhesion molecules as well as those related to T-cells, aberrant glycosylation of IgA1, nitric oxide production, neoangiogenesis, renin-angiotensin system and lipid, Pyrin and homocysteine metabolism, may be implicated not only in the predisposition to IgAV but also in its severity. An update of the current knowledge of the genetic component associated with the pathogenesis of IgAV is detailed in this review.Acknowledgements: RL-Mis supported by the Miguel Servet I programme of the Spanish Ministry of Economy and Competitiveness through the grant CP16/ 00033. FG is recipient of a Sara Borrell postdoctoral fellowship from the “Instituto Carlos III de Salud” at the Spanish Ministry of Health (Spain) (CD15/00095). SR-M is supported by funds from the RETICS Program (RIER) (RD16/0012/0009). FDC is supported by the Ramón y Cajal programme of the Spanish Ministry of Economy and Competitiveness through the grant RYC-2014-16458
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients
10.1002/pro.2265Protein Science226823-83
Low serum carnitine concentrations in healthy children with iron deficiency anemia
Carnitine is not only obtained from animal-derived foods but also synthesized in the body. It plays an important role in the energy metabolism of many tissues, including heart and skeletal muscles. Iron is known to be essential for the biosynthesis of carnitine. Although many conditions are well known to cause secondary carnitine deficiency, iron deficiency, which is a very common condition in children is not well studied as a cause of secondary carnitine deficiency in humans. This study demonstrates the coexistence of iron deficiency and low carnitine levels in otherwise healthy children. The mean carnitine concentration of 18 otherwise healthy children with iron deficiency anemia was significantly lower compared to the mean carnitine concentration of healthy children without iron deficiency anemia. Based on the evidence about the effect of low iron on carnitine stores in experimental animals, we proposed that low serum carnitine levels in these children may be secondary to iron deficiency. However, further studies need to be done to further clarify this relationship
Point mutations identified in Turkish hemophilia A patients using denaturing gradient gel electrophoresis (DGGE)
ACUTE LYMPHOBLASTIC-LEUKEMIA IN A CHILD WITH HEMOGLOBINS-S AND Q-IRAN
A 13-year-old girl with acute lymphoblastic leukemia is presented. The peripheral smear showed, in addition to lymphoblasts, marked anisocytosis, poikilocytosis, and polychromasia. In vitro sickling test was positive. Hemoglobin electrophoresis at pH 9.0 on starch gel revealed the presence of hemoglobin A, hemoglobin S, and a band with a mobility of hemoglobin A2. Structural analysis revealed the presence of hemoglobin S and an alphachain variant, hemoglobin Q-Iran. The patient attained remission with the initial therapy administered but a relapse occurred five months later. Our study indicates the need for detailed investigation of leukemia patients in which abnormal hemoglobins are prevalent
Indolent Acremonium strictum infection in an immunocompetent patient
WOS: 000171586500008PubMed ID: 11679001A 35-year-old housewife presented with an 11-year history of a painless lesion on the right cheek, which had enlarged over the last 2 years. She had no history of travel or trauma. Various topical and systemic antimicrobial and antifungal agents, such as fluconazole, ketoconazole, sulbactam/ampicillin, and mupirocin, had been prescribed, with a probable diagnosis of pyoderma. and blastomycosis, without significant benefit. Her medical history was otherwise unremarkable. Dermatologic examination revealed a well-circumscribed, erythematous, infiltrative, 8 X 10 cm plaque covering the right cheek and a 2 X 3.5 cm vegetative, ulcerated lesion on the chin (Fig. 1). There were no sinus tracts or grains. The following laboratory test results were within the normal limits: complete blood count, blood biochemistry, urinalysis, immunoglobulins and complement levels, T lymphocyte, CD4 and CD8 cell counts, and response to mitogens. X-Rays of the chest and maxillar and mandibular bones were normal. Routine bacterial cultures were negative. Skin biopsies and fungal and mycobacterial cultures were taken with a preliminary diagnosis of deep fungal or mycobacterial infection. Dermatopathologic examination revealed irregular epidermal hyperplasia with follicular plugging. A dense nodular lymphohistiocytic infiltrate was observed within the reticular dermis, with many multinucleated giant cells and plasma cells. In higher magnification, even in hematoxylin and eosin sections, large septate hyphae and spores were noticeable. Periodic acid-Schiff stain revealed abundant fungal structures within the giant cells and extracellularly throughout the inflammatory infiltrate (Fig. 2). Lymphocytes were rather sparse in comparison to the large amount of microorganisms within the tissue. Fungal cultures were performed on Sabouraud's dextrose agar and, within 1 week of incubation, white fungal colonies were observed. On multiple passages at 26 degreesC, white tufted colonies with a salmon-colored base had formed (Fig. 3). Native preparations from the cultured colonies revealed septate hyphae, and 90 degrees angled branches, together with phialides decorated with ellipsoidal conidia with rounded edges (Fig. 4). These findings were consistent with Acremonium strictum, a saprophytic fungus. Further laboratory examinations revealed no systemic involvement. Following the diagnosis of Acremonium infection, amphotericin B therapy and surgical excision of the tumoral lesion were planned, but the patient refused further treatment and failed to respond to our follow-up attempts
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