71 research outputs found

    State business: gender, sex and marriage in Tajikistan

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    This article examines the relation of the state to masculinity and sexuality by way of an exploration of the sexual problems of a young man and his wife in Tajikistan at the end of the Soviet era. It suggests that the regime’s inattention to this kind of issue was bound up with the importance to the state of projecting appropriate versions of masculinity. It further posits the idea that the continued refusal of the independent Tajik state to offer appropriate treatments for sexual dysfunction is consistent with the image of modernity President Rahmon wishes to present to the world. The article shows that as masculinity discursively occupies the superior gender position, with men expected to dominate, the state is itself impotent to respond when they are, in fact, unable to do so in sexual practice. However, the myth of male dominance persists to the point that it may prevent women from seeing beyond their subordination and finding mutually beneficial solutions in their familial and sexual relationships

    Abdominal manifestations in childhood‐onset systemic lupus erythematosus

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    BACKGROUND: Childhood‐onset lupus erythematosus is a rare disorder of unknown origin. OBJECTIVES: To describe the frequency of gastrointestinal manifestations at presentation of systemic lupus erythematosus SLE and at follow‐up, and discuss the specific causes of these manifestations. METHODS: Medical records of 201 patients with childhood‐onset SLE followed up in French paediatric nephrological, haematological and rheumatological centres were reviewed and abstracted for gastrointestinal manifestations. RESULTS: Gastrointestinal involvement was recorded in 39 (19%) children. The median (range) age at the time of initial gastrointestinal manifestations was 11.3 (4.5–16) years. Gastrointestinal symptoms were present at or occurred within 1 month after diagnosis in 32% patients. Abdominal pain was the most frequent symptom, present in 34 (87%) patients. It was mostly related to lupus involvement, especially ascites (n = 14) and pancreatitis (n = 12), more rarely to treatment‐induced events (n = 1) or infection (n = 1) and never to events unrelated to SLE. Three children with surgical abdomen underwent a laparotomy before SLE was diagnosed, with a final diagnosis of lupus peritonitis and lupus acalculous cholecystitis. C reactive protein values were <40 mg/l in all but two patients who had surgical abdomen. Abdominal ultrasonography and computed tomography scans were abnormal in 58% and 83% of the evaluated patients, respectively. Corticosteroids, associated with intravenous cyclophospamide in eight patients, led to complete remission of gastrointestinal involvement in 30 of 31 treated patients. CONCLUSION: Gastrointestinal involvement is common in children with SLE, and is mainly due to primary lupus involvement. Corticoidsteroid treatment should be promptly considered in children with lupus presenting with abdominal pain after infectious disease; side effects of treatment and intestinal perforation have been excluded

    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

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    Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi–Goutières syndrome. To date, seven genes related to Aicardi–Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi–Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrate cutaneous involvement. We present a family segregating a heterozygous pathogenic mutation in IFIH1 showing dermatological involvement as a prominent feature, variably associated with neurological disturbance and premature tooth loss. All three affected individuals exhibited increased expression of interferon-stimulated genes in whole blood, and the mutant protein resulted in enhanced interferon signalling in vitro, both in the basal state and following ligand stimulation. Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi–Goutières syndrome and Singleton–Merten syndrome
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