Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype

Cutis laxa is a rare group of inherited and acquired disorders characterized by loose and redundant skin with reduced elasticity. Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. A homozygous mutation in the fibulin-5 coding gene was discovered in a Turkish pedigree showing recessive inheritance, and a different mutation in this gene was found in the heterozygous state in a sporadic case of the disease. Here, we report the third case of a mutation in the fibulin-5 coding gene in a recessive Iranian cutis laxa pedigree. The mutation is the same as previously reported in the Turkish pedigree, further confirming that it is causative of disease. A haplotype consisting of seven intragenic sequence variations common to both pedigrees is described for the mutation-carrying fibulin-5 allele.     

Are the Predictors of Sexual Violence the Same as Those of Nonsexual Violence? A Gender Analysis

IntroductionViolence manifests itself in such multifarious ways as sexual, physical, and psychological abuse. What has hitherto eluded the medical community, however, is whether sexual and nonsexual abuse share the same predictors.AimDrawing upon a representative sample of married men and women in the Iranian capital, Tehran, we aimed to determine: (i) the overlap between sexual abuse and physical and psychological violence, and (ii) the predictors that sexual violence victimization share with physical and psychological violence victimization.Main Outcome MeasuresVictimization through any type of sexual coercion by the husband in the context of the current marital relationship, as determined via the conflict tactic scales-revised (CTS-2).MethodsIn a cross-sectional survey in Tehran in 2007, 460 married Iranian men and women were selected via a multicluster sampling method from four different randomized regions. Independent variables comprised sociodemographic characteristics, subscores of psychological, and personality characteristics known to be allied with intimate abuse (personal and relationship profile), and dichotomus data on victimization history through all types of violence by the spouse including psychological aggression, physical assault, and sexual coercion (CTS-2).ResultsIn both genders, the experience of physical or psychological violence increased the likelihood of sexual violence victimization. In both genders, higher conflict was a predictor of sexual and psychological violence victimization. In addition, the common predictors of sexual and physical violence victimization were low self-control and high violent socialization in the men and women, respectively.ConclusionsSexual violence victimization shares some factors with the victimization of nonsexual types of marital abuse, but this seems to be partially gender dependent. Mohammadkhani P, Forouzan AS, Khooshabi KS, Assari S, and Moghani Lankarani M. Are the predictors of sexual violence the same as those of nonsexual violence? A gender analysis. J Sex Med 2009;6:2215–2223.     

Evaluation of procalcitonin and neopterin level in serum of patients with acute bacterial infection

BackgroundFever as a common presenting complaint in pediatric patients can be due to various causes. Differentiating bacterial infection from other causes is important because the prompt use of antibiotics is critical in bacterial infection. Traditional markers of infection such as BT and WBC count may be unspecific and culture may be late or absent. CRP and Procalcitonin (PCT) have been considered to evaluate the evolution of infections and sepsis in patients presenting with SIRS. Neopterin has also been proposed to aid in the diagnosis of bacterial infection. In this study, we compared the value of the serum PCT, neopterin level, and WBC count for predicting bacterial infection and outcome in children with fever.Methods158 pediatric (2-120-month-old) patients suspected to have acute bacterial infection, based on clinical judgment in which other causes of SIRS were ruled out were included in the study. WBC count with differential was determined and PCT and neopterin levels were measured.ResultsPCT level was higher in bacterial infection and patients who were complicated or expired.ConclusionRapid PCT test is superior to neopterin and WBC count for anticipating bacterial infection, especially in ED where prompt decision making is critical. Abbreviations: BT, body temperature; WBC, white blood cell; PCT, procalcitonin; CRP, C-reactive protein; SIRS, systemic inflammatory response syndrome; ED, emergency department.     

Study of morphine-induced dependence in gonadectomized male and female mice

In this study we evaluated the effects of sex difference and also sex hormones on the naloxone-precipitated morphine withdrawal in both orchidectomized (ORC) male and ovariectomized (OVX) female mice. Morphine (50, 50 and 75 mg/kg/day for 4 days, s.c.) was administered to animals and at 5th day naloxone (4 mg/kg, i.p.)-precipitated morphine withdrawal signs, jumpings and the percentage of weight loss, were measured. There was no significant alteration in withdrawal jumpings between male and female mice, though weight loss was significantly higher in male ones. Jumpings was significantly lower in both OVX and ORC mice and percentage of weight loss was significantly higher in OVX mice than corresponding non-operated or sham animals. In OVX mice, E₂V (10 mg/kg, s.c.) increased number of jumpings and decreased percentage of weight loss. Progesterone (25 mg/kg, s.c.) had no effect on jumpings, whereas it decreased weight loss in OVX mice. Testosterone (2.5 mg/kg, s.c.) increased jumpings in ORC mice while it had no effect on percentage of weight loss. Our results demonstrated that sex hormones could play a role in the morphine withdrawal syndrome in both ORC male and OVX female mice.     

An uncontrolled trial of rituximab for antibody associated paraneoplastic neurological syndromes

Abstract Anti-CD20 monoclonal antibody (rituximab) is effectively used in the treatment of B-cell lymphomas. Recent reports in the literature suggest that antibody associated autoimmune disorders may respond to rituximab. We therefore treated nine patients with anti-Hu or anti-Yo associated paraneoplastic neurological syndromes (PNS) with a maximum of four monthly IV infusions of rituximab (375mg/m²). In this uncontrolled, unblinded trial of rituximab, three patients improved ≥1 point on the Rankin Scale (RS). One patient with limbic encephalitis improved dramatically (RS from 5 to 1). Further studies of rituximab in autoantibody associated PNS are warranted.     

A new paraneoplastic encephalomyelitis autoantibody reactive with the axon initial segment

Serum from a patient with paraneoplastic encephalomyelitis (PEM) and small cell lung cancer (SCLC) showed high titer immunohistochemical staining of the axon initial segment (AIS) on rat and human brain sections. EM studies showed that the antigen was localized in close proximity of the microtubules in the AIS. Double labeling experiments and absence of staining at the nodes of Ranvier excluded the previously identified βIV spectrin as autoantigen. Screening a rat hippocampal cDNA library resulted in the isolation of ubiquitin-conjugating enzyme E2E1 (UBE2E1). However, blocking and elution experiments excluded UBE2E1 as the AIS autoantigen.