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Female Predominance (female + predominance)
Selected AbstractsPrevalence of multiple sclerosis in Västerbotten County in northern SwedenACTA NEUROLOGICA SCANDINAVICA, Issue 4 2001P. Sundström Objective , To estimate the prevalence and clinical characteristics of multiple sclerosis (MS) in Västerbotten County in northern Sweden. Methods,Individuals with MS were identified from several sources. A follow-up interview and/or examination was performed in 94% of cases still living in the area during 1997,99. Onset adjusted prevalence and a definition of onset symptoms were applied. Results, A total of 313 cases were identified, resulting in an onset adjusted crude prevalence of MS for January 1990 of 125/105 (95% confidence interval (CI): 112,140). Female predominance was evident (163/105 (95% CI: 142,187) vs 86/105 (95% CI: 71,104)). Diagnostic coding registers were the most important source for identification of cases. Conclusions, The crude prevalence of MS in Västerbotten was higher than previous reports from other major areas in Scandinavia. The adjusted prevalence was significantly higher when compared with a previous study from Göteborg, south-western Sweden. The methodology used in this study gives a high degree of case ascertainment and increases the comparability of multiple sclerosis epidemiological studies. [source] Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathyEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2010M. Hirohata Background and purpose: The present study aims to clarify the clinical features of non-hypertensive cerebral amyloid angiopathy-related lobar intracerebral hemorrhage (CAA-L-ICH). Methods: We investigated clinical, laboratory, and neuroimaging findings in 41 patients (30, women; 11, men) with pathologically supported CAA-L-ICH from 303 non-hypertensive Japanese patients aged ,55, identified via a nationwide survey as symptomatic CAA-L-ICH. Results: The mean age of patients at onset of CAA-L-ICH was 73.2 ± 7.4 years; the number of patients increased with age. The corrected female-to-male ratio for the population was 2.2, with significant female predominance. At onset, 7.3% of patients received anti-platelet therapy. In brain imaging studies, the actual frequency of CAA-L-ICHs was higher in the frontal and parietal lobes; however, after correcting for the estimated cortical volume, the parietal lobe was found to be the most frequently affected. CAA-L-ICH recurred in 31.7% of patients during the average 35.3-month follow-up period. The mean interval between intracerebral hemorrhages (ICHs) was 11.3 months. The case fatality rate was 12.2% at 1 month and 19.5% at 12 months after initial ICH. In 97.1% of patients, neurosurgical procedures were performed without uncontrollable intraoperative or post-operative hemorrhage. Conclusions: Our study revealed the clinical features of non-hypertensive CAA-L-ICH, including its parietal predilection, which will require further study with a larger number of patients with different ethnic backgrounds. [source] A 9-year review of dystonia from a movement disorders clinic in SingaporeEUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2006R. D. G. Jamora The clinical features of dystonia have not been evaluated in Southeast Asia. We therefore investigated the clinical spectrum and characteristics of dystonia in Singapore, a multi-ethnic Southeast Asian country comprising 77% Chinese, 14% Malays, and 8% Indians. We identified all dystonia patients from the Movement Disorders database and Botulinum Toxin clinic between 1995 and November 2004. Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data using a standardized data collection form. A total of 119 (73%) patients had primary dystonia whilst 45 (27%) had secondary dystonia. There were 77% Chinese, 9% Malays, and 8% Indians. The most common focal dystonia were cervical dystonia (47%), writer's cramp (32%), and blepharospasm (11%). There was no significant difference in the distribution of dystonia between the different races. Males were noted to have earlier onset of dystonia overall. There was a significant male predominance in primary dystonia overall (M:F 1.6:1, P = 0.008) and in the subgroup of focal dystonia (M:F 1.6:1, P = 0.037). This contrasts with previous studies that found a female predominance. The role of genetic, hormonal, and environmental factors and their interactions need to be investigated to better understand the gender differences in the occurrence of dystonia. [source] Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?HEPATOLOGY, Issue 5 2004Piotr Milkiewicz The mechanisms that cause the female predominance of primary biliary cirrhosis (PBC) are uncertain, but the X chromosome includes genes involved in immunological tolerance. We assessed the rate of X monosomy in peripheral white blood cells from 100 women with PBC, 50 with chronic hepatitis C, and 50 healthy controls, by fluorescence in-situ hybridisation. Frequency of X monosomy increased with age in all groups, but was significantly higher in women with PBC than in controls (p<0.0001); age-adjusted back-transformed mean frequencies were 0.050 (95% CI 0.046-0.055) in women with PBC, 0.032 (0.028-0.036) in those with chronic hepatitis C, and 0.028 (0.025-0.032) in controls. We suggest that haploinsufficiency for specific X-linked genes leads to female susceptibility to PBC. [source] Role of X chromosome defects in primary biliary cirrhosisHEPATOLOGY RESEARCH, Issue 2007Pietro Invernizzi Similar to the majority of autoimmune conditions, primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by a striking female predominance; it is characterized by high titer serum autoantibodies to mitochondrial antigens, elevated serum immunoglobulin M, progressive destruction of intrahepatic bile ducts, and ultimately liver cirrhosis and failure. Familiarity and high concordance rates for the disease among monozygotic twins strongly support the role of genetics in the disease. Experimental efforts have been dedicated by our and other research groups to investigate the role of X chromosome abnormalities (i.e. monosomyrates and inactivation patterns) in autoimmunity. Our recent work has demonstrated enhanced X monosomy in women with PBC as well as two other female-predominant autoimmune diseases, systemic sclerosis and autoimmune thyroid disease. We will review herein the most recent evidence on the role of the X chromosome in PBC onset and discuss the potential implications. Future developments of these findings will be discussed. [source] Primary biliary cirrhosis: an orchestrated immune response against epithelial cellsIMMUNOLOGICAL REVIEWS, Issue 1 2000M. Eric Gershwin Summary: Primary biliary cirrhosis (PBC) is an organ-specific autoimmune disease that predominantly affects women and is characterized by chronic progressive destruction of small intrahepatic bile ducts with portal inflammation and ultimately fibrosis. The serologic hallmark of PBC is the presence of antibodies to mitochondria, especially to the E2 component of the pyruvate dehydrogenase complex. The mechanisms by which (and if) such antibodies produce liver tissue injury are unknown. However, the presence of these antibodies has allowed detailed immunological definition of the antigenic epitopes, the nature of reactive autoantibodies and the characterization of T-cell responses. Several mechanisms may now be proposed regarding the immune-mediated bile duct damage in PBC, including the possible role of T-cell-mediated cytotoxicity and intracellular interaction between the IgA class of antimitochondrial antibodies and mitochondrial autoantigens. There are major questions which remain unanswered, including, of course, etiology, but also the reasons for female predominance, the absence of PBC in children, the relative ineffectiveness of immunosuppressive drugs, and the specific role of mitochondrial antigens. The data so far provide suggestive evidence that PBC is a mucosal disease; this thesis provides a basis for discussion of etiology via the enterohepatic circulation of toxins and/or infection. [source] Microscopic colitis: an underdiagnosed cause of chronic diarrhoea , the clue is in the biopsiesINTERNAL MEDICINE JOURNAL, Issue 7 2003C. S. Pokorny Abstract Microscopic forms of colitis (collagenous colitis and lymphocytic colitis) are uncommon but important causes of chronic diarrhoea that are often overlooked. The clinical features of these disorders are similar, and they are more common in middle-aged females, although the female predominance is greater in collagenous colitis. Although their cause is unclear, both are associated with a variety of autoimmune diseases. Colonoscopy and barium enema are typically normal, so that the diagnosis depends on the demonstration of characteristic changes on histopathological examination of colorectal biopsies. These should be taken in all patients undergoing colonoscopy for the investigation of chronic diarrhoea. There are no large controlled trials of therapy available. Treatment is empirical, generally using the same agents as for inflammatory bowel disease. Assessment of therapy is also difficult as spontaneous remissions occur often. (Intern Med J 2003; 33: 305,309) [source] Frequency of and variables associated with the EGFR mutation and its subtypesINTERNATIONAL JOURNAL OF CANCER, Issue 3 2010Tomoaki Tanaka Mutation in the epidermal growth factor receptor (EGFR) is frequently seen in non-small cell lung cancers (NSCLCs), especially in Asian females with adenocarcinoma. The frequency of mutation and the factors associated requires to be elucidated by analyzing a large number of consecutive clinical samples. We summarized the result of the EGFR mutation analysis for 1,176 patients performed at the time of diagnosis or relapse. The PNA-LNA PCR clamp, a highly sensitive detection method for the EGFR mutation, was employed. For fresh cases a portion of samples isolated to establish the diagnosis of lung cancer was used. For cases with a relapsed disease archival tissue were tested. The variables associated with the EGFR mutation after removing the confound factors were investigated by the logistic analysis using the samples collected in our university (n = 308) where detailed information on patients were available. The frequency of the EGFR mutation and its subtypes were investigated using all samples (n = 1,176). The EGFR mutation was significantly associated with adenocarcinoma (p = 0.006) and light-smoking (p < 0.0001), but not gender. The deletions in exon 19 were more frequently associated with male gender while exon 21 deletions were with female gender (p = 0.0011). The overall frequency of the EGFR mutation was 31%. Our result suggests that the female predominance in the EGFR mutation rate is a reflection of a higher frequency of adenocarcinoma in females. The gender difference in the mutation subtypes may provide a clue for the mechanism of the occurrence of the EGFR mutation. [source] Lymphoproliferative disorders in autoimmune diseases in Japan: Analysis of clinicopathological features and Epstein-Barr virus infectionINTERNATIONAL JOURNAL OF CANCER, Issue 3 2004Yoshihiko Hoshida Abstract Lymphoproliferative disorders (LPD) occasionally develop in individuals with immune deficiencies such as immunosuppressive conditions and autoimmune diseases (AID). In our study, the clinicopathologic features and virus status were analyzed in 53 cases with LPD developing in rheumatoid arthritis (RA) and other AID. AID in only 4 of 53 patients had been treated with some sort of immunosuppressive therapy, including methotrexate. Median age at the diagnosis of LPD in AID was 60 years old with marked female predominance (M/F = 0.4). The median interval between the onset of AID and LPD development was 45 months, and longer in RA patients than in other AID (p < 0.01). The primary site of lymphoma was nodal in 21 cases and extra-nodal in 24, with clinical Stage I in 17, II in 5, III in 13, and IV in 13. Immunohistochemistry showed that 39 cases were B cell type, 10 were T cell type and 4 were Hodgkin lymphoma (HL). Then majority of B cell cases were diffuse large B cell lymphomas, and 2 were diffuse polymorphic type. EBER-1 in situ hybridization for Epstein-Barr virus (EBV) showed positive signals in tumor cells in 16 of 53 (30.2%) cases. The EBV-positive rate in T cell LPD (70%) was much higher than that in B cell LPD (12.8%) (p < 0.01). All 4 cases of HL were EBV-positive. Immunohistochemistry showed a latency II pattern of EBV infection (LMP-1+ and EBNA-2,). Five-year overall survival rate was 33%. Multivariate analysis showed that only type of AID was an independent factor for survival of patients, i.e., LPD in RA showed the most favorable prognosis. In conclusion, LPD in AID generally shared common features with sporadic LPD except for a much higher EBV-positive rate in T cell LPD. © 2003 Wiley-Liss, Inc. [source] Demographic features and seasonal variations in patients with acne vulgaris in Saudi Arabia: a hospital-based studyINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 12 2002Ali M. Al-Ameer MD Aim To review the demographic features and seasonal variations of acne vulgaris in patients diagnosed at the Dermatology Outpatient Clinic, King Fahad Hospital of the University (KFHU), Al-Khobar, Saudi Arabia. Methods Two hundred and twenty cases (142 females, 78 males; mean age, 14.8 and 16.3 years, respectively) seen between January 1, 1999 and December 31, 2000 were studied. Results Patients suffering from acne vulgaris made up 19.6% of the new cases seen at the clinic. The male to female ratio was 1 : 1.8. The mean age of onset was 16.3 ± 2.1 years for males and 14.8 ± 3.9 years for females (P = 0.003). The largest numbers of patients were seen during the cold months of the year (November to February). Conclusions Acne vulgaris constituted nearly one fifth of all visits to the dermatologist with female predominance. It appears nearly one and a half years earlier in females than in males. Seasonal variations were observed in acne as the condition exacerbates in winter, while if often improves during the summer months. [source] Moyamoya-disease-related ischemic stroke in the postpartum periodJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2009Kei Miyakoshi Abstract Stroke during pregnancy or the puerperium is an extremely rare yet serious cause of perinatal morbidity and mortality. Moyamoya disease, a cerebrovascular occlusive pathology with a female predominance, may become symptomatic for the first time in association with pregnancy. A 36-year-old woman with postpartum pre-eclampsia suddenly developed hemiparesis in the left arm with dysarthria after the initiation of antihypertensive measures. Cranial magnetic resonance imaging and angiography revealed acute ischemic lesions in the right hemisphere along with the steno-occlusive lesions of bilateral terminal portions of the internal carotid artery, indicating Moyamoya disease. With anti-platelet medication, the patient recovered gradually and was diagnosed as having Moyamoya disease using conventional angiography 3 months postpartum. In this case, the fluctuations in blood pressure in association with pre-eclampsia appear to have exacerbated the clinical symptoms of Moyamoya disease. As such, Moyamoya disease should be considered as an underlying disease of ischemic stroke associated with pregnancy. [source] Epithelial salivary gland tumors of children and adolescents in west China population: a clinicopathologic study of 79 casesJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 4 2008Liu Laikui Objective:, Determine the clinical and histopathologic features of epithelial salivary gland tumors of children and adolescents. Methods:, A total of 79 cases of epithelial salivary gland tumors of children and adolescents were retrieved from the files. Information about demographic, clinical, histopathologic characteristics, and follow-up status were analyzed. Results:, Sixty tumors (75.9%) were benign and 19 (24.1%) malignant. The most common tumor overall was pleomorphic adenoma (PA). The parotid was the most frequently involved site (43.0%). PA was the most common type of benign tumor. The most common malignant tumor was mucoepidermoid carcinoma. Five patients with parotid PA and two cases with palate myoepithelioma showed local recurrences. One patient with mucoepidermoid carcinoma showed local recurrences and died from the tumor 3 years after the initial treatment. One patient with adenocarcinoma presented local and neck recurrences, and died 4 years after initial treatment. Conclusions:, Our data showed that the salivary gland tumors in children and adolescents may be the higher incidence of benign tumors, especially of PA; the slightly higher tendency for female predominance; the higher incidence of parotid glands. Mucoepidermoid carcinoma was the most common malignant tumor, with majority of low grade. Initial treatment should be planned to excise the tumor completely with satisfactory margins. The neck dissections or postoperative radiotherapy were performed in patients with low differentiation malignancies, or patients who present nodal metastasis or with clinically suspicious regional metastasis. [source] Dapsone in rosacea fulminansJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 5 2001G Bormann Abstract Rosacea fulminans is a rare disease with female predominance characterized by abrupt onset of pustules, papules, and confluent nodules on the face. The conventional treatment consists of systemic glucocorticoids and isotretinoin. We present the case of a 56-year-old woman with a marked facial papulopustular eruption that had followed an initial period of severe seborrhoea. Conventional treatment produced no clear improvement. Dapsone treatment achieved complete healing in 5 weeks. [source] Psychogenic movement disorders in children,MOVEMENT DISORDERS, Issue 13 2008Joseph Ferrara MD Abstract Psychogenic movement disorders (PMDs) are well characterized in adults, but childhood-onset PMDs have not been extensively studied. We reviewed the medical records of children who were diagnosed in our clinic with PMDs since 1988 and identified 54 patients with PMDs, representing 3.1% of our pediatric movement disorder population and 5.7% of all PMD cases. The mean age at symptom onset was 14.2 years (±2.11, range 7.6,17.7). Similar to published data in adults, two-thirds of children exhibited multiple PMD phenotypes, the most common being tremor followed by dystonia and myoclonus. Most PMDs were abrupt in onset, paroxysmal and triggered by identifiable physical or psychological trauma. As in adults, childhood PMDs were more likely to affect females, but there was no female predominance in children less than 13 years old. Although prior studies suggest that medically unexplained symptoms beginning in childhood often follow a benign course, this cohort of children experienced marked disability and morbidity related to PMDs, including prolonged school absences and unnecessary surgical procedures in more than one-fifth of patients. © 2008 Movement Disorder Society [source] Allergic rhinitis in children: Incidence and treatment in Dutch general practice in 1987 and 2001PEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 6 2009Cindy M. A. De Bot Allergic rhinitis is a common chronic disorder in children, mostly diagnosed in primary health care. This study investigated the national incidence and treatment of allergic rhinitis among children aged 0,17 yr in Dutch general practice in 1987 and 2001 to establish whether changes have occurred. A comparison was made with data from the first (1987) and second (2001) Dutch national surveys of general practice on children aged 0,17 yr. Incidence rates were compared by age, sex, level of urbanization and season. The management of the general practitioner was assessed regarding drug prescriptions and referrals to medical specialists, and compared with the clinical guideline issued in 1996. The incidence rate of allergic rhinitis increased from 6.6 (1987) to 9.2 (2001) per 1000 person-years. We found a male predominance with a switch in adolescence to a female predominance at both time points. The increase in incidence was the highest in rural (<30,000 inhabitants) and suburban areas (30,000,50,000 inhabitants). Compared to 1987, there was a significant increase in incidence in the central part of the Netherlands in 2001. In both years, the incidence was higher in spring compared with the other seasons. In 2001, children of natives and western immigrants visited the general practitioner more often with complaints of allergic rhinitis compared to 1987. In 1987, prescribed medication consisted mainly of nasal corticosteroids (36%) and in 2001 of oral antihistamines (45%). Although a clinical guideline was not issued until 1996, overall, the treatment of allergic rhinitis by general practitioners was in both years in accordance with the current clinical guideline, but with a stronger adherence in 2001. The results show an increased incidence in the past decades of allergic rhinitis in children in Dutch general practice. The shift to a smaller spectrum of prescriptions in 2001 may be a result of the 1996 clinical guideline. [source] Biology, clinical characteristics, and management of adrenocortical tumors in childrenPEDIATRIC BLOOD & CANCER, Issue 3 2005Carlos Rodriguez-Galindo MD Abstract Childhood adrenocortical tumors (ACT) are very aggressive endocrine neoplasms whose incidence is quite low. Little is known about their pathogenesis, clinical presentation, and optimal treatment. In recent years, however, new information has been derived from the International Pediatric Adrenocortical Tumor Registry (IPACTR), and new clues to its pathogenesis have emerged. To provide an overview of the available data that may apply to pediatric ACT, we reviewed the epidemiology, pathogenesis, and treatment of ACT in adults and in children. Germline TP53 mutation is almost always the predisposing factor in childhood ACT. A unique germline mutation (TP53,R337H) has been described in Southern Brazil, where the incidence of ACT is 10,15 times the general incidence. Childhood ACT typically present during the first 5 years of life and has female predominance. Hormone hyperproduction is almost universal, and most patients present with virilization. Two-thirds of patients have resectable tumors. Surgery is the definitive treatment for ACT, and a curative complete resection should always be attempted. Cisplatin-based chemotherapy with mitotane is indicated for unresectable or metastatic disease, although its impact on overall outcome is slight. In childhood ACT, age, tumor size, and tumor resectability are the most important prognostic indicators. Outcome is stage-dependent; patients with small, resectable tumors have survival rates in excess of 80%, whereas the outcome for patients with unresectable disease is dismal. Patients with large, resectable tumors have an intermediate outcome. Childhood ACT are rare, but their unique epidemiology appear to implicate novel oncogenic pathways that are unique to the pediatric population. Multi-institutional and prospective studies are necessary to further our understanding of the pathogenesis and to improve outcomes. © 2005 Wiley-Liss, Inc. [source] Discoid Lupus Erythematosus in Children: Clinical, Histopathologic, and Follow-Up Features in 27 CasesPEDIATRIC DERMATOLOGY, Issue 2 2003Celia Moises-Alfaro, M.D. During a mean follow-up period of 36 months, seven patients (26%) developed systemic lupus erythematosus (SLE). Four of these patients were less than 10 years of age. No correlation was found between localized and disseminated lesions and evolution to SLE. Three of four patients with a positive family history for rheumatoid disease developed SLE (p < 0.05). Hyperpigmentation was significantly more frequent (p < 0.04) in children less than 10 years of age. There was a female predominance of 5:1 among patients less than 10 years of age. Our findings suggest that onset of DLE prior to 10 years of age does not indicate a greater risk of developing SLE. The occurrence of localized or disseminated lesions does not seem to influence the outcome. [source] Headache etiology in children: A retrospective study of 125 casesPEDIATRICS INTERNATIONAL, Issue 6 2000Gülhis Deda AbstractBackground: To determine the headache etiology in children in the middle Anatolia region of Turkey. Methods: The clinical and laboratory findings of 125 patients, who were followed up after a diagnosis of headache in our hospital, were reviewed retrospectively. The criteria defined by the International Headache Society (IHS) were used in the classification of patients. The patients were divided into two subgroups according to age intervals: (i) group I, 5,10 years of age; and (ii) group II, 11,16 years of age. Results: There were 62 males and 63 females in the study. The patients' ages ranged from 5 to 16 years (mean (± SD) age 10.67~2.72 years). Headache was more commonly noted between 11 and 16 years of age. While headache was more frequent in male children in group I, there was female predominance in group II. However, there was no significant difference between the groups with respect to age and gender (P>0.05). The most frequent cause of headache was migraine and the remaining causes, in decreasing order, included sinusitis (no. 11 according to IHS criteria) and tension-type and psychosomatic headaches (no. 13 according to IHS criteria). Of the 125 patients in the study, 85 (68%) had acute headache and 40 (32%) had chronic headache; 44 (35.2%) patients had acute localized-type headache, 39 (31.2%) suffered from acute recurrent-type headache, 38 (30.4%) had chronic non-progressive headache and acute generalized and chronic progressive-type headache were diagnosed in two (1.6%) patients. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain were performed in 50 and seven patients, respectively; there were abnormal findings in six patients on CT examiniation and in two patients following MRI. Conclusions: In conclusion, we stress that the most frequent cause of headache in childhood is migraine and the remaining causes, in decreasing order of frequency, were sinusitis and tension-type and psychosomatic headaches. Neuroimaging studies, such as CT or MRI, need to be performed, especially in patients with complicated symptoms. [source] Autoimmune diseases in women with Turner's SyndromeARTHRITIS & RHEUMATISM, Issue 3 2010Kristian T. Jørgensen Objective In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women with Turner's syndrome is characterized by diseases with a female or male predominance. Methods Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798 Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. Results The overall risk of autoimmune disease among women with Turner's syndrome was twice that among Danish women in general (SIR 2.1 [95% CI 1.6,2.7]). For autoimmune diseases with a female predominance, the SIR among women with Turner's syndrome was 1.7 (95% CI 1.2,2.4), whereas the SIR for autoimmune diseases with a male predominance among these women was 3.9 (95% CI 2.5,5.8). Associations were strongest for Hashimoto thyroiditis (SIR 14.6 [95% CI 6.7,27.1]), a strongly female-predominant condition, and type 1 diabetes mellitus (SIR 4.1 [95% CI 2.5,6.3]). Conclusion Women with Turner's syndrome are at excess risk of autoimmune diseases, notably autoimmune diseases characterized by male predominance. [source] Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, ChinaBIRTH DEFECTS RESEARCH, Issue 4 2006Zhiwen Li Abstract BACKGROUND In the past, northern China's Shanxi Province has reported the highest incidence of neural tube defects (NTDs) in the world. However, little is known about the epidemiology of NTDs in this area in recent years. METHODS Data were collected from a population-based birth defects surveillance system in 4 counties that captures information on all live births, stillbirths of at least 20 weeks' gestation, and pregnancy terminations at any gestational age resulting from prenatal diagnosis of a birth defect. We also surveyed mothers of NTD case patients to determine their use of folic acid before and during early pregnancy. RESULTS During 2003, 160 NTD cases were identified among 11,534 births (NTD birth prevalence = 138.7/10,000 births). The rates of anencephaly, spina bifida and encephalocele were 65.9, 58.1, and 14.7 per 10,000, respectively, and a female predominance was observed among anencephaly cases (male-to-female relative risk [RR], 0.49; 95% confidence interval [CI], 0.30,0.79), but not among spina bifida (RR, 0.90; 95% CI, 0.55,1.45) and encephalocele (RR, 1.03; 95% CI, 0.40,2.69) cases. The percentages of pregnancy termination following prenatal diagnosis of anencephaly, spina bifida, and encephalocele were 50%, 41.8%, and 35.3%, respectively. NTD birth prevalence tended to be higher among mothers aged <20 or ,30 years (P = .06) and was markedly associated with lower levels of maternal education (P < .001). Among 143 NTD mothers, only 6 (4.2%) used folic acid supplements during the periconceptional period. CONCLUSIONS The NTD birth prevalence rate in the study area is among the highest worldwide. Folic acid deficiency may be one important risk factor. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc. [source] Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneityBIRTH DEFECTS RESEARCH, Issue 1 2004Monica Rittler Abstract BACKGROUND Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly underlying causes of birth defects. METHODS Between 1982 and 1999, 1,444,646 newborn infants were examined by the Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) network of South American maternity hospitals. Male relative risks were established for 39,425 infants with 50 selected single anomalies. Associations between male sex and risk factors were identified in nonmalformed infants. In malformed infants, sex-related risk differences were established, and the SR of these infants, with and without associated risk factors, were compared. RESULTS Infants with neural tube defects (NTDs) and intrauterine growth restriction had a lower SR than those with normal growth, while spina bifida without hydrocephaly (SB[sHy]) was the only NTD subtype without a significant female predominance. Multigravidity lowered the SR of SB(sHy) and HPP (HPP) cases. Increased paternal age inverted the SR of cleft lip (CL) with or without cleft palate (CL[P]) cases from male to female. CONCLUSIONS The results indicate etiological differences between high and low SB, a stronger relationship between multigravidity and female sex of the offspring than between multigravidity and a specific congenital anomaly, and a possible involvement of dominant mutations for CL(P), as suggested by the association with increased paternal age. Birth Defects Research (Part A) 67:000,000, 2003. © 2003 Wiley-Liss, Inc. [source] Clinical implications of nodal marginal zone B-cell lymphoma among Japanese: study of 65 casesCANCER SCIENCE, Issue 1 2007Masaru Kojima To clarify the clinical presentation and outcome of nodal marginal zone B-cell lymphoma (NMZBL), 65 Japanese patients with this disease were studied and compared with the published literature from western countries. The clinical findings of our 65 cases were similar to those of their cases in some aspects: (1) 58% of the patients were >60 years old (median age, 64 years); (2) there was a slight female predominance; (3) 90% of the patients exhibited asymptomatic lymphadenopathy in the head and neck area; (4) only a minority of patients had B symptoms (6%) and poor performance status (8%); and (5) only 5% of patients were positive for M-protein. However, the 65 patients in this series exhibited relatively longer 5-year overall survival (85%) and failure-free survival (60%) than the NMZBL series published in western literature, suggesting that NMZBL should be classified as indolent lymphoma. Moreover, based on the histological findings, we further classified four histological subtypes as follows: (1) splenic type (n = 7); (2) floral type (n = 9); (3) mucosa-associated lymphoid tissue (MALT) type (n = 29); and (4) diffuse large B-cell lymphoma (DLBCL) + MALT type (n = 20). DLBCL + MALT type exhibited significantly poorer 5-year overall survival than the splenic variant. The recognition of DLBCL + MALT type appears important. No API2,MALT1 fusion transcript was detected in any of the 14 cases examined. (Cancer Sci 2007; 98: 44,49) [source] | ||||||||||||||||||||||||||||