Idiopathic generalized epilepsy (IGE) is a common, complex disease with an almost exclusively genetic etiology but with variable phenotypes. Clinically, IGE can be divided into different syndromes. Varying lines of evidence point to the involvement of several interacting genes in the etiology of IGE. We performed a genome scan in 91 families ascertained through a proband with adolescent-onset IGE. The IGEs included juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with generalized tonic clonic seizures (EGTCS). Our linkage results support an oligogenic model for IGE, with strong evidence for a locus common to most IGEs on chromosome 18 (lod score 4.4/5.2 multipoint/two-point) and other loci that may influence specific seizure phenotypes for different IGEs: a previously identified locus on chromosome 6 for JME (lod score 2.5/4.2), a locus on chromosome 8 influencing non-JME forms of IGE (lod score 3.8/2.5), and, more tentatively, two newly discovered loci for absence seizures on chromosome 5 (lod scores 3.8/2.8 and 3.4/1.9). Our data also suggest that the genetic classification of different forms of IGE is likely to cut across the clinical classification of these subforms of IGE. We hypothesize that interactions of different combinations of these loci produce the related heterogeneous phenotypes seen in IGE families.
Thirty-two infants, aged 1 to 12 months, hospitalized with acute wheezing, were studied. They were randomly divided into four treatment groups of eight patients each. The treatments were intramuscular dexamethasone or placebo (double-blind), and salbutamol (oral and inhaled), or none (open), in all four possible combinations. The study was carried out as a randomized block design with eight blocks of four infants each, matched by age and clinical score. Average daily improvements, as reflected by changes in the clinical score and length of hospital stay, was essentially the same for infants treated with placebo, salbutamol alone, and dexamethasone alone. However, combined salbutamol-dexamethasone treatment resulted in more than twice the rate of improvement of the other treatments. The difference was statistically highly significant (P < .01). Furthermore, the response of this combined treatment was observed within 24 hours; none of the ten infants in whom there was no significant improvement within 48 hours and neither of the two patients who developed respiratory failure received the combined salbutamol-dexamethasone treatment. A potentiating effect of corticosteroids on the β-adrenergic responsiveness is a possible explanation for the advantage of this combined treatment in the management of acute wheezing in infancy.
To the best of our knowledge, this is the first study to evaluate the impact of severe bleeding on the outcome of pregnancies complicated with placenta previa. Our study demonstrates that, in women with placenta previa, severe bleeding does not lead to increased adverse maternal or neonatal outcomes.
Pelvic floor disorders are common and bothersome problems that include a variety of conditions. These conditions greatly affect the performance of daily activities and social function such as work, traveling, physical exercise, sleep and sexual function. Aging is a well-known factor affecting the pelvic floor and lower urinary tract anatomy and function. It is clear that the pelvic organs and their surrounding muscular and connective tissue support are estrogen-responsive. Treatment of pelvic floor disorders requires significant health-care resources and their impact is likely to increase in the near future. This literature review aims to provide an overview of both research and clinical aspects of the pathophysiology of urogenital estrogen deficiency and the role of local estrogen therapy as part of the management strategy of different pelvic floor disorders. The safety and risk concerns regarding the use of local estrogen therapy are addressed as well.
Bicornuate uterus is an independent risk factor for cervical os insufficiency. This is an important finding due to the burden of the risk for midtrimester periviable birth associated with cervical incompetence.
Objective: To evaluate the effect of attending a prenatal childbirth preparation course (CPC) on labor duration and outcomes. Methods: A cross sectional study of 53 primiparous women who attended and 54 women who did not attend a CPC was conducted. The state-trait anxiety inventory (STAI) score was used to diagnose anxiety. Clinical and obstetrical data were collected from the perinatal database of our center. Through post-partum interviews, coping strategies were assessed, patients graded their childbirth experience and breastfeeding was evaluated. Data were analyzed using description analyses and a P-value < 0.05 was considered statistically significant. Results: The STAI score was significantly lower in the study group compared with controls (P = 0.025). The first stage and the entire duration of labor were significantly shorter (P = 0.036 and P = 0.026, respectively) in women who attended the CPC. No significant differences were found with regard to the mode of delivery, rate of episiotomy, use of analgesics and neonatal outcomes between the groups. Women in the study group rated their labor experience significantly higher (P = 0.016) and exhibited significantly higher rates of breastfeeding (P < 0.001) than controls.
Conclusions:The knowledge acquired in the CPC has positive effects on the course of labor and delivery outcomes as well as higher rates of breastfeeding.
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