24 research outputs found

    An association of hypochondroplasia and immune deficiency

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    A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously. Abstract A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously. &nbsp;</p

    Premature thelarche related to fennel tea consumption?

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    Background: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient. Abstract Background: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient. Case: Here, we report a case of a 12-month-old girl who showed breast development that became apparent in the last 3 months. Her medical history revealed that she was given two to three teaspoons of fennel tea by her mother every day for restlessness for the last 6 months. Isolated premature thelarche was diagnosed based on physical and laboratory findings. On follow-up, after cessation of fennel consumption, the breast development of the patient regressed gradually and became normal by the end of 1 year. Conclusion: Reporting this case, we want to emphasize the importance of awareness of fennel tea, a commonly used plant in babies, as a preventable cause of premature thelarche. Keywords: fennel tea; isolated premature thelarche; phytoestrogen. *Corresponding author: Deniz Okdemir, Faculty of Medicine,</p

    Contribution of KIR (killer immunoglobulin-like receptor) genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus

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    Backgound and aim: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM
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