The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

neurogenetics - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from...     

What are the requirements for patient-centered breast imaging? Communication preferences of mammography patients in Turkey

Abstract

We have investigated communication preferences of mammography results in 90 patients through a structured interview approach. About 81% of patients expressed that they wanted to get the results, and 18% expressed that getting the results does not help if they are incomprehensible. In patients who want to get the results, 80% preferred face-to-face interaction with physicians, whereas the others preferred other modes of communication to prevent loss of time. Majority of patients infavor of face-to-face interaction (57%) preferred both the referring physician and the radiologist. Comprehensibility and fast delivery of reports, plus direct communication with radiologists are the requirements in mammography patients while implementing patient-centered radiology.     

Are Dermatophytid Reactions in Patients with Kerion Celsi Much More Common Than Previously Thought? A Prospective Study

Dermatophytid reactions are secondary eruptions in response to dermatophytosis. Only a few cases demonstrating an association between dermatophytid reactions and tinea capitis have been reported. Dermatophytid reactions were evaluated in patients diagnosed with kerion celsi. Patients admitted to the dermatology clinic of Van Regional Training and Research Hospital between November 22, 2012, and July 1, 2013, diagnosed with kerion celsi were evaluated for dermatophytid reactions. Six girls (32%) and 13 boys (68%) were included in this study. Dermatophytid reactions were detected in 13 of the 19 patients (68%). Seven patients (36.84%) had eczematous patches or plaques and three (15.8%) had papules. Eczematous lesions, papules, and pustules were noted in two patients (10.5%) and one (5.3%) had signs of an angioedema‐like reaction. Dermatophytid reactions in all patients were observed before the initiation of therapy. According to our clinical experiences, dermatophytid reactions in patients with kerion celsi were more common than reported. Eczematous scaly patches or plaques were the most frequently seen forms of dermatophytid in patients with kerion celsi. Dermatophytid reactions may occur before or after initiation of systemic antifungal therapy. Recognition of this reaction is important so that dermatophytids can be distinguished from drug reactions and the decision can be made whether to continue or to stop the systemic antifungal treatment.     

Attachment to Caregivers and Type 1 Diabetes in Children

Attachment is a behavioral and physiological system, which enables individual’s dynamic adaptation to its environment. Attachment develops in close interaction between an infant and his/her mother, plays an important role in the development of the infant’s brain, and influences the quality of interpersonal relationships throughout life.Security of attachment is believed to influence individual response to stress, exposing insecurely organized individuals to deregulated autonomic nervous system and exaggerated hypothalamic-pituitary-adrenal activity, which, in turn, produces increased and prolonged exposure to stress-hormones. Such stress responses may have considerable implications for the development of diverse health-risk conditions, such as insulin resistance and hyperlipidemia, shown by numerous studies.Although the mechanisms are not yet fully understood, there is compelling evidence highlighting the role of psychological stress in the development of type 1 diabetes (T1D). One of the possible contributing factors for the development of T1D may be the influence of attachment security on individual stress reactivity. Thus, the suggestion is that insecurely attached individuals are more prone to experience increased and prolonged influence of stress hormones and other mechanisms causing pancreatic beta-cell destruction.The present paper opens with a short overview of the field of attachment in children, the principal attachment classifications and their historic development, describes the influence of attachment security on individual stress-reactivity and the role of the latter in the development of T1D. Following is a review of recent literature on the attachment in patients with T1D with a conclusion of a proposed role of attachment organization in the etiology of T1D.     

Secondary haemophagocytic lymphohistiocytosis: Experience from the Uppsala University Hospital

Background. Haemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome characterized by fever, hepatosplenomegaly, cytopenia, and progressive multiple-organ failure. HLH in adults is often secondary to autoimmune diseases, cancer, or infections in contrast to familial HLH. Treatment of secondary HLH is directed against the triggering disease in addition to immunosuppressive therapy, the latter commonly according to the HLH-2004 protocol.Methods. We conducted a retrospective study to identify triggering diseases, disease-specific and immunosuppressive therapy administered, and prognosis in adult patients with secondary HLH. Patient data were collected from October 2010 to January 2015.Results. Ten adult patients with secondary HLH were identified. Seven were men, and the median age at diagnosis was 62 years. Five cases were triggered by malignant disease and five by infection. The median patient fulfilled five of the eight HLH-2004 diagnostic criteria. All patients fulfilled the criteria fever, cytopenia, and ferritin >500 µg/L. Median time from hospital admission to HLH diagnosis was 20 days. Four patients received immunosuppressive therapy according to the HLH-2004 protocol. The prognosis was dismal, especially for the patients with malignancy-associated HLH, of whom all died.Conclusion. HLH should be suspected in patients who present with fever, cytopenia, and ferritin >500 µg/L. Secondary HLH has a dismal prognosis. None of the patients with HLH triggered by malignancy survived. Achieving remission of the triggering disease seems to be important for a favourable outcome as, in all surviving patients, the haemophagocytic syndrome resolved after remission of the underlying infection.