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Male Preponderance (male + preponderance)
Selected AbstractsAbstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 36JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2003F Logullo Diabetic lumbosacral radiculoplexus neuropathy (DLRPN) is a well-recognized subacute painful asymmetric proximal and distal lower limb neuropathy. DLRPN may be associated with thoracic and upper limb involvement. The latter may appear as compression mononeuropathies and as a more diffuse disorder consistent with cervicobrachial radiculoplexus neuropathy (DCRPN). We performed a multiperspective study of patients, seen between 1999,2002, with diabetes and acute or subacute onset and progression of unilateral or asymmetric bilateral proximal and/or distal weakness in lower and/or upper limbs. We excluded patients who had compression mononeuropathies or radiculopathies, multineuropathies or asymmetric poly(radiculo)neuropathies, motor neuron disease as suggested by clinical, electrophysiological, laboratory or MRI findings. During the study period we observed 18 patients with diabetic radiculoplexus neuropathy. Most patients were middle-aged or elderly and male preponderance was noted. Ten patients had DLPRN, 6 both DLPRN and DCRPN, 2 isolated DCRPN. DCRPN affected prevalently hands and forearms, unilaterally in 3 patients, bilaterally in 5, and improved spontaneously but incompletely in most patients in several months. Pain was not a prominent feature except for one patient. We conclude that diabetic radiculoplexus neuropathy may involve the cervicobrachial regions not only in association with DLRPN but also alone. [source] Gender difference, sex hormones, and immediate type hypersensitivity reactionsALLERGY, Issue 11 2008W. Chen Gender differences in the development and prevalence of human diseases have long been recognized. Immense interest grows in the understanding of the role of sex hormones in the homeostasis of immunity. Asthma predominates in boys before puberty and this gender preference reverses after puberty and in adulthood, when adult women tend to have a more severe disease, often recalcitrant to treatment. Atopic eczema in preschool children shows insignificant gender difference or male preponderance in different studies, with more adult females suffering from atopic eczema. The limited data on the prevalence of immediate hypersensitivity to hymenoptera venom show controversial results. Discrepancy exists regarding the gender difference in food allergy, with females reporting significantly more allergic reactions in questionnaire studies. In general, adverse reactions to nonionic iodinated radiocontrast media are more commonly observed in females. The course of allergic diseases varies unpredictably during pregnancy, whereas hormone replacement therapy in postmenopausal women usually has a favorable influence on the course of asthma. Experiments in rodents confirm an effect of estrogens on mast cell activation and allergic sensitization, while progesterone is shown to suppress histamine release but potentiate IgE induction. Dehydroepiandrosterone may antagonize the production of Th2 cytokines but the effect of testosterone and the other androgens remains less defined. Actual data from human studies are lacking. [source] Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjectsNEPHROLOGY, Issue 8 2008JOO HOON LEE SUMMARY: Aim: Mutations in the SLC22A12 gene, which encodes a uric acid transporter, URAT1, are associated with renal hypouricaemia. This study was designed to measure serum uric acid (Sua) levels and allele frequencies of two common mutations in SLC22A12, W258X and R90H, in healthy Korean subjects. Methods: A total of 909 unrelated Korean adults (male : female, 1:1.23; mean age, 48.4 ± 11.0 years) were recruited among those who had taken a routine health check-up in a health centre in 2003. None of them had hypertension, diabetes mellitus, kidney diseases or liver diseases. Genotyping for W258X and R90H was performed using the TaqMan method. Results: The prevalences of hyperuricaemia (Sua levels, >416 µmol/L) and hypouricaemia (Sua levels, <178 µmol/L) were 4.6% and 3.3%, respectively. A marked male preponderance in the hyperuricaemic group was noted, and the men revealed higher Sua than the women. The Sua showed a positive correlation with serum creatinine level and blood pressure. In the hypouricaemic group, the allele frequencies of W258X and R90H were 11.7% and 6.7%, respectively, and the proportion of subjects with one or both of the mutant alleles was 33.3%. Hyperuricaemic subjects never had either mutation. Conclusion: The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles. [source] Etiologic yield of autistic spectrum disorders: A prospective studyAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2006Agatino Battaglia Abstract Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau,Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield. © 2006 Wiley-Liss, Inc. [source] MEDULLARY THYROID CARCINOMA: A 20-YEAR EXPERIENCE FROM A CENTRE IN SOUTH INDIAANZ JOURNAL OF SURGERY, Issue 3 2007Philip Finny Background: Management of medullary thyroid carcinoma (MTC) remains controversial despite many advances over the past five decades. We attempt to review the presentation, management and prognosis of MTC at our institution over the last two decades. Methods: We conducted a retrospective review of the records of 40 patients with MTC over a period of 20 years. Results: Ten patients had hereditary MTC and 30 had sporadic MTC. The mean age of presentation was 41 years. Sixty-five per cent of the patients had a definite thyroid swelling and 43% had lymphadenopathy at the time of presentation. Total thyroidectomy with a central neck dissection was carried out in 82.5% of patients. Adjuvant therapy was given in 75% of patients because of extensive/residual disease. Postoperative hypercalcitoninaemia was seen 73% of patients. 131I metaiodobenzylguanidine scanning was carried out in 16 patients with persistent hypercalcitoninaemia; the uptake was positive in 10 and negative in 6, indicating a positivity of 62%. Conclusion: Medullary thyroid carcinoma accounts for 2.5% of thyroid carcinomas. There is a small male preponderance. In our series 131I metaiodobenzylguanidine scan had a better positivity than what has been reported in the published work. Persistent postoperative hypercalcitoninaemia was associated with a poorer prognosis that did not reach statistical significant. [source] |