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Late Onset (late + onset)
Terms modified by Late Onset Selected AbstractsEBV-Associated Leukoencephalopathy with Late Onset of Central Nervous System Lymphoma in a Kidney Transplant RecipientAMERICAN JOURNAL OF TRANSPLANTATION, Issue 4 2010A. Vaglio Central nervous system (CNS) lymphoma is a rare posttransplant lymphoproliferative disorder (PTLD), which usually has a poor outcome. To date, no specific conditions predisposing to this complication have been identified. We here describe the case of a renal transplant patient who was initially diagnosed as having Epstein-Barr virus (EBV)-associated leukoencephalopathy and ultimately developed EBV-positive CNS lymphoma. The patient was a young lady who, 2 years after transplantation, presented with focal neurological and electroencephalographic abnormalities and diffuse white matter lesions on brain magnetic resonance imaging. EBV-DNA was detected in the cerebrospinal fluid (CSF) by polymerase chain reaction. After acyclovir therapy and immunosuppressive drug tapering, the symptoms and electroencephalographic abnormalities subsided, and EBV-DNA disappeared from the CSF. Ten years later, a bulky cerebral mass was found. After excision, a diagnosis of EBV-positive, Hodgkin-like monomorphic B-cell PTLD was made. This case illustrates the potential pathophysiological relationships between EBV infection, leukoencephalopathy and CNS lymphoma; although a long time elapsed from the initial neurological illness to CNS lymphoma, a link between these two conditions cannot be excluded. Therefore, a careful long-term follow-up of EBV-related encephalopathy is advisable. [source] Research Issues in Genetic Testing of Adolescents for ObesityNUTRITION REVIEWS, Issue 8 2004Mary E. Segal Ph.D. Obesity is often established in adolescence, and advances are being made in identifying its genetic underpinnings. We examine issues related to the eventual likelihood of genetic tests for obesity targeted to adolescents: family involvement; comprehension of the test's meaning; how knowledge of genetic status may affect psychological adaptation; minors' ability to control events; parental/child autonomy; ability to make informed medical decisions; self-esteem; unclear distinctions between early/late onset for this condition; and social stigmatization. The public health arena will be important in educating families about possible future genetic tests for obesity. [source] A cytoskeletal tropomyosin can compromise the structural integrity of skeletal muscleCYTOSKELETON, Issue 9 2009Anthony J. Kee Abstract We have identified a number of extra-sarcomeric actin filaments defined by cytoskeletal tropomyosin (Tm) isoforms. Expression of a cytoskeletal Tm (Tm3) not normally present in skeletal muscle in a transgenic mouse resulted in muscular dystrophy. In the present report we show that muscle pathology in this mouse is late onset (between 2 and 6 months of age) and is predominately in the back and paraspinal muscles. In the Tm3 mice, Evans blue dye uptake in muscle and serum levels of creatine kinase were markedly increased following downhill exercise, and the force drop following a series of lengthening contractions in isolated muscles (extensor digitorum longus) was also significantly increased in these mice. These results demonstrate that expression of an inappropriate Tm in skeletal muscle results in increased susceptibility to contraction-induced damage. The extra-sarcomeric actin cytoskeleton therefore may have an important role in protecting the muscle from contractile stress. Cell Motil. Cytoskeleton 2009. © 2009 Wiley-Liss, Inc. [source] Perceived parental rearing in subjects with obsessive,compulsive disorder and their siblingsACTA PSYCHIATRICA SCANDINAVICA, Issue 4 2010L. Lennertz Lennertz L, Grabe HJ, Ruhrmann S, Rampacher F, Vogeley A, Schulze-Rauschenbach S, Ettelt S, Meyer K, Kraft S, Reck C, Pukrop R, John U, Freyberger HJ, Klosterkötter J, Maier W, Falkai P, Wagner M. Perceived parental rearing in subjects with obsessive,compulsive disorder and their siblings. Objective:, Perceived parenting in patients suffering from obsessive,compulsive disorder (OCD) is examined. We attempted to overcome some methodological limitations of prior studies by taking age of onset, parental OCD and comorbid depression into consideration. In addition, we included data from unaffected siblings to corroborate information on parental rearing. Method:, One hundred and twenty-two cases with OCD and 41 of their siblings as well as 59 healthy controls and 45 of their siblings completed the German short-version of the EMBU (FEE). Results:, Obsessive,compulsive disorder cases reported less parental warmth and more parental rejection and control. Further analyses indicated that parenting is also associated with OCD in cases with late onset and cases without parents affected by OCD. OCD cases with comorbid depression described their parents particularly negatively. Data from siblings indicated good validity of perceived parenting in OCD. Conclusion:, This study provides further evidence for dysfunctional child rearing being relevant to the development of OCD and depression. [source] Localization of KCNC1 (Kv3.1) potassium channel subunits in the avian auditory nucleus magnocellularis and nucleus laminaris during developmentDEVELOPMENTAL NEUROBIOLOGY, Issue 2 2003Suchitra Parameshwaran-Iyer Abstract The KCNC1 (previously Kv3.1) potassium channel, a delayed rectifier with a high threshold of activation, is highly expressed in the time coding nuclei of the adult chicken and barn owl auditory brainstem. The proposed role of KCNC1 currents in auditory neurons is to reduce the width of the action potential and enable neurons to transmit high frequency temporal information with little jitter. Because developmental changes in potassium currents are critical for the maturation of the shape of the action potential, we used immunohistochemical methods to examine the developmental expression of KCNC1 subunits in the avian auditory brainstem. The KCNC1 gene gives rise to two splice variants, a longer KCNC1b and a shorter KCNC1a that differ at the carboxy termini. Two antibodies were used: an antibody to the N-terminus that does not distinguish between KCNC1a and b isoforms, denoted as panKCNC1, and another antibody that specifically recognizes the C terminus of KCNC1b. A comparison of the staining patterns observed with the panKCNC1 and the KCNC1b specific antibodies suggests that KCNC1a and KCNC1b splice variants are differentially regulated during development. Although panKCNC1 immunoreactivity is observed from the earliest time examined in the chicken (E10), a subcellular redistribution of the immunoproduct was apparent over the course of development. KCNC1b specific staining has a late onset with immunostaining first appearing in the regions that map high frequencies in nucleus magnocellularis (NM) and nucleus laminaris (NL). The expression of KCNC1b protein begins around E14 in the chicken and after E21 in the barn owl, relatively late during ontogeny and at the time that synaptic connections mature morphologically and functionally. © 2003 Wiley Periodicals, Inc. J Neurobiol 55: 165,178, 2003 [source] CADASIL: underdiagnosed in psychiatric patients?ACTA PSYCHIATRICA SCANDINAVICA, Issue 5 2005T. Leyhe Objective:, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is exclusively related to symptoms of the central nervous system. Retrospectively in up to 15% the initial presentation is psychiatric disturbances. In these cases the diagnosis often is delayed or missed. Method:, Two cases of CADASIL diagnosed in a psychiatric hospital are presented. Results:, Both patients were admitted to the gerontopsychiatric department (one because of a suicidal attempt and a depressive episode, the other because of cognitive decline and progressive personal neglect). Brain magnetic resonance imaging (MRI) showed severe leukoencephalopathy in the absence of cardiovascular risk factors. In both cases, diagnosis of CADASIL was made by the identification of specific granular osmiophilic material in skin biopsies. Conclusion:, Brain MRI should be performed in all cases of late onset of severe psychiatric symptoms. CADASIL should be considered as a possible differential diagnosis whenever a marked leukoencephalopathy is detectable. Diagnosis can be verified by taking a skin biopsy or by specific genetic testing. [source] A missing denture's misadventure!DISEASES OF THE ESOPHAGUS, Issue 1 2006I. Samarasam SUMMARY.,. We report a late onset, benign, tracheoesophageal fistula in a 51-year-old man, due to an accidentally swallowed denture. In view of the extensive peri-esophageal sepsis and fibrosis, he was managed by a subtotal esophagectomy and a cervical esophagogastric anastomosis. The tracheal defect was closed with the help of an intercostal muscle flap. This report also highlights the difficulty in identifying swallowed prosthetic dental material radiologically, when no metallic component is present. This fact was also responsible for the delay in diagnosis, eventually leading to the rare complication of a tracheoesophageal fistula. [source] Delusion symptoms are associated with ApoE ,4 allelic variant at the early stage of Alzheimer's disease with late onsetEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2006G. Spalletta Alzheimer's disease (AD) is a neurodegenerative disorder with mixed cognitive and behavioural clinical manifestations. The possession of apolipoprotein-E (ApoE) ,4 allelic variant is one of the most important risk factors for developing late-onset AD (LOAD). In this study we analysed the relationship between the entire range of behavioural symptoms, cognitive deficit, and sociodemographic characteristics and ApoE ,4 allele possession with multivariate logistic regression models in LOAD patients. Patients included (n = 171) were consecutively admitted in a memory clinic for the first diagnostic visit. Levels of behaviour and cognition within the last month were assessed by the Neuropsychiatric Inventory and Mini Mental State Examination. Presence of clinically significant psychosis, delusions and hallucinations at the early stage of the illness, from the onset to the first visit, was measured with diagnostic criteria. ApoE ,4 allele possession was associated with increased levels of delusions within the last month from the first visit (OR 1.23; 95% CI 1.01,1.50; P < 0.05) and with the presence of categorical delusions at the early stage until the first visit (OR 3.11; 95% CI 1.21,8.01; P < 0.02). In this study, which considers the entire range of behavioural expressions in LOAD patients at the early stage of the illness, the relationship between behaviour and ApoE ,4 allele is confirmed for delusions only. [source] Dual-association of gnotobiotic Il-10,/, mice with 2 nonpathogenic commensal bacteria induces aggressive pancolitisINFLAMMATORY BOWEL DISEASES, Issue 12 2007Sandra C. Kim MD Abstract Background: Monoassociating gnotobiotic IL-10-deficient (,/,) mice with either nonpathogenic Enterococcus faecalis or a nonpathogenic Escherichia coli strain induces T-cell-mediated colitis with different kinetics and anatomical location (E. faecalis: late onset, distal colonic; E. coli: early onset, cecal). Hypothesis: E. faecalis and E. coli act in an additive manner to induce more aggressive colitis than disease induced by each bacterial species independently. Methods: Germ-free (GF) inbred 129S6/SvEv IL-10,/, and wildtype (WT) mice inoculated with nonpathogenic E. faecalis and/or E. coli were killed 3,7 weeks later. Colonic segments were scored histologically for inflammation (0 to 4) or incubated in media overnight to measure spontaneous IL-12/IL-23p40 secretion. Bacterial species were quantified by serial dilution and plated on culture media. Mesenteric lymph node (MLN) CD4+ cells were stimulated with antigen-presenting cells pulsed with bacterial lysate (E. faecalis, E. coli, Bacteroides vulgatus) or KLH (unrelated antigen control). IFN-, and IL-17 levels were measured in the supernatants. Results: Dual-associated IL-10,/, (but not WT) mice developed mild-to-moderate pancolitis by 3 weeks that progressed to severe distal colonic-predominant pancolitis with reactive atypia and duodenal inflammation by 7 weeks. NF-,B was activated in the duodenum and colon in dual-associated IL-10,/, × NF-,BEGFP mice. The aggressiveness of intestinal inflammation and the degree of antigen-specific CD4+ cell activation were greater in dual- versus monoassociated IL-10,/, mice. Conclusion: Two commensal bacteria that individually induce phenotypically distinct colitis in gnotobiotic IL-10,/, mice act additively to induce aggressive pancolitis and duodenal inflammation. (Inflamm Bowel Dis 2007) [source] Herpes zoster-associated voiding dysfunction in hematopoietic malignancy patientsINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 1 2008Shinichi Imafuku MD Background, Voiding dysfunction is a rare but important complication of lumbo-sacral herpes zoster. Although the symptoms are transient, the clinical impact on immunocompromised patients cannot be overlooked. Methods, To clarify the time course of voiding dysfunction in herpes zoster, 13 herpes zoster patients with voiding dysfunction were retrospectively analyzed. Results, Of 13 patients, 12 had background disease, and six of these were hematopoietic malignancies; four of these patients were hematopoietic stem cell transplant (HSCT) recipients. Ten patients had sacral lesions, two had lumbar, and one had thoracic lesions. Interestingly, patients with severe rash, or with hematopoietic malignancy had later onset of urinary retention than did patients with mild skin symptoms (Mann,Whitney U analysis, P = 0.053) or with other background disease (P = 0.0082). Patients with severe skin rash also had longer durations (P = 0.035). In one case, acute urinary retention occurred as late as 19 days after the onset of skin rash. Conclusions, In immune compromised subjects, attention should be paid to patients with herpes zoster in the lumbo-sacral area for late onset of acute urinary retention even after the resolution of skin symptoms. [source] Blindness and bulimia nervosa: A description of a case report and its treatmentINTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 3 2006Fernando Fernández-Aranda PhD Abstract Objective Blindness has rarely been described in the eating disorder (ED) literature. In case reports in which this condition has been reported before an ED, it was concluded that visual body image was not essential for the development of the ED. This is the first report in which bulimia nervosa (BN) and its treatment in a blind woman were described. Method We report a single diagnosed and treated case of BN in a blind, 47-year-old Spanish woman. This case presented as its main characteristics the late onset of the ED, restrictive dieting, binging, and consequent purging behavior characterized by vomiting and great difficulties of coping with stress. From the beginning, the woman's body image was not essential. The treatment consisted of 21 individual outpatient sessions, which followed a non,symptom-oriented cognitive-behavioral approach, in which problem solving and stress management strategies were employed. Results Before, after the treatment, and at the 6-month and 1-year follow-up, the clinical evolution of the patient was assessed. Conclusion Although a few descriptions of single case reports on blindness in individuals with anorexia nervosa (AN) have already been reported in the literature, to the authors' knowledge, this is the first reported case in which this condition and its treatment have specifically been reported in an individual with BN. © 2006 by Wiley Periodicals, Inc., Int J Eat Disord, 2006 [source] The role of vascular risk factors in late onset bipolar disorder,INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 8 2007Hari Subramaniam Abstract Background The association between late life depression and cerebro-vascular risk and cerebro-vascular disease is well established. Do similar links exist with late onset bipolar disorder? Aims and Objectives Patients with early onset (less than 60 years of age) bipolar disorder were compared with those of late onset (aged 60 and above) in relation to cognitive function, physical health and vascular risk factors. Method Cross-sectional survey of elderly bipolar disorder patients (above 65 years) involved with secondary care mental health services. Thirty patients with early onset were compared with 20 patients with a late onset bipolar disorder. Diagnosis of bipolar disorder was according to ICD-10 criteria and without an associated clinical diagnosis of dementia. Assessment of cognition included tests of frontal-executive function, and cerebro-vascular risk was quantified with the Framingham stroke risk score. Results The late onset group had a higher stroke risk score than the early onset group, this difference persisting despite taking age and gender differences into account. However, late onset patients' cognitive function (including frontal lobe tests) and physical health status was no different to the early onset group. Conclusion There is higher ,cerebrovascular risk' in elderly patients with late onset bipolar disorder, compared to patients with an early onset. This suggests that cerebrovascular risk may be an important factor for the expression of bipolar disorders in later life, and has significant management implications for older bipolar patients. Copyright © 2006 John Wiley & Sons, Ltd. [source] Differences in diagnostic subtypes among patients with late and early onset of a single depressive episodeINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 12 2006Lars Vedel Kessing Abstract Objective It is unclear whether patients with late onset and patients with early onset present with different subtypes of depression. The aim of the study was to compare the prevalence of subtypes of ICD-10 single depressive episodes for patients with late onset (age >65 years) and patient with early onset (age,,,65 years) in a nationwide sample of all patients discharged from psychiatric in- or outpatient settings. Method All patients who got a diagnosis of a single depressive episode in a period from 1994,2002 at the end of the first outpatient treatment or at the first discharge from psychiatric hospitalisation ever in Denmark were identified in a nationwide register. Results In total, 18.192 patients were given a diagnosis of a single depressive episode at the first outpatient contact and 8.396 patients were given a diagnosis of a single depressive episode at the first psychiatric hospitalisation ever. Patients with late onset were more often women, more often presented with a severe depressive episode and more often with psychosis than patients with early onset, in both inpatient and outpatient treatment settings. No differences were found between patients with late and patients with early onset in the prevalence of depression with or without melancholic symptoms,in either of the treatment settings. Conclusions Patients with a late onset first depressive episode are more often women and are clinically characterised by more severe depressions and a higher prevalence of psychosis than patients with early onset. Copyright © 2006 John Wiley & Sons, Ltd. [source] Pubertal Maturation Characteristics and the Rate of Bone Mass Development Longitudinally Toward MenarcheJOURNAL OF BONE AND MINERAL RESEARCH, Issue 4 2001Silvia C. C. M. Van Coeverden Abstract To assess risks for osteoporosis and to compare bone mass in different groups of healthy children or children with diseases, it is important to have knowledge of their sexual maturation status during puberty. The aim of our study was to evaluate bone mass formation longitudinally in relation to pubertal maturation characteristics in healthy white girls. We investigated the bone mineral content (BMC) and the bone mineral density (BMD) at different skeletal sites in 151 girls with increasing pubertal stages in relation with their chronological age and with an early or late onset of puberty or menarche and with a slow or fast maturation. Bone mass was measured at the onset of puberty, during puberty, and at menarche. We conclude the following: (1) from midpuberty to menarche, the increase in bone mass formation is highest at all skeletal sites in white girls; (2) early mature girls at the onset of puberty have slightly but definitely lower bone masses at all skeletal sites and at all pubertal stages than late mature girls, whereas the average bone mass formation from the onset of puberty to menarche is similar in both groups; (3) girls with a slow rate of pubertal maturation have lower bone mass values 2 years after the onset of puberty, but at menarche bone mass is similar compared with fast maturers; and (4) it cannot be confirmed that there is an effect of menarcheal age on bone mass values at menarche. [source] Prevalence and Characteristics of Left Atrial Tachycardia Following Left Atrial Catheter AblationPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 2007TORU HASHIMOTO M.D. Background: Left atrial tachycardia (AT) is a complication of left atrial catheter ablation (LACA) of atrial fibrillation (AF). However, its prevalence and characteristics have not been sufficiently clarified. Methods: We divided 121 patients who underwent LACA into 2 groups based on the results of AT occurrence after LACA (follow-up period; 12 ± 7 months): an AT+ group and AT, group. Results: New-onset left AT occurred in 30 patients (25%) 31 ± 51 days after LACA. Among the 26 patients with an early onset of AT, 4 underwent a second ablation for AT, and 21 became free of AT within 6 months without a repeat ablation procedure. Among the 4 patients with a late onset of AT (>2 months after the LACA), the tachycardia remitted without a repeat ablation procedure in a single patient within 6 months. Among 71 patients who underwent LACA with additional ablation lines, 22 (31%) developed new-onset left AT. Among 50 patients who underwent LACA alone, 8 (16%) developed new-onset left AT (P = 0.02). Conclusions: New-onset left AT is a frequent complication of LACA for AF, especially in men and in patients with a low left ventricular ejection fraction. Early (<2 months) onset AT does not require a repeat ablation because it often represents a transient phenomenon and disappears spontaneously. [source] Severe iron overload in Blackfan-Diamond anemia: A case-control study,AMERICAN JOURNAL OF HEMATOLOGY, Issue 11 2009Simona Roggero Chronic iron overload is a serious complication in transfusion-dependent patients. Few studies have addressed this issue in Diamond-Blackfan anemia (DBA). We describe a retrospective analysis of iron overload, and its related complications in 31 transfusion-dependent Italian DBA patients whose records included one or more evaluation of liver iron concentration (LIC) by means of noninvasive magnetic liver susceptometry with a superconductive quantum interference device (SQUID). This cohort is also matched with a group of transfusion-dependent ,-thalassemia major patients to look for differences. A severe iron overload was observed in 54% patients, especially among those inadequately chelated. The DBA patients displayed a significantly higher LIC than the regularly chelated ,-thalassemics. This difference may have been attributable to nonoptimal chelation (late onset, type, dose, prescription, and compliance), or an unknown biological mechanism that lead to an early severe iron overload. We therefore suggest that all transfusion patients should have an accurate record of their iron intake, a regular monitoring of iron overload, in order to start chelation when a critical transfusion load is reached, and to test the efficacy/compliance of chelation treatment. Physicians taking care of transfusion-dependent DBA patients must be concerned about the frequent and early complications such as cardiac toxicity. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Delayed ventricular fibrillation following blunt chest trauma in a 4-year-old childPEDIATRIC ANESTHESIA, Issue 4 2006RIAD TOME MD Summary A 4-year-old boy who was involved in a motor vehicle accident as a pedestrian and suffered blunt chest trauma was admitted to the emergency room. Unpredictable delayed ventricular fibrillation was diagnosed and treated successfully 2 h later. This case cannot be classified as commotio cordis as the ventricular fibrillation (VF) developed so long after the sustained chest injury. At the same time, other possible etiologies of VF such as cardiac pathology or electrolyte and metabolic disorders had been ruled out. Thus, an etiological link between the chest trauma and the subsequent VF could not be ruled out and is in fact plausible despite the late onset. [source] The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients,AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2009Tamar H. Taddei Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and genetic characteristics of GD at presentation were examined in a cross-sectional study. In addition, the relative risk (RR) of cancer in patients compared with age-, sex-, and ethnic-group adjusted national rates of cancer was determined. Of the 403 patients, 54% of patients were homozygous (N370S/N370S) and 46% were compound heterozygous for the N370S mutation (N370S/other). The majority of N370S/N370S patients displayed a phenotype characterized by late onset, predominantly skeletal disease, whereas the majority of N370S/other patients displayed early onset, predominantly visceral/hematologic disease, P < 0.0001. There was a striking increase in lifetime risk of multiple myeloma in the entire cohort (RR 25, 95% CI 9.17,54.40), mostly confined to N370S homozygous patients. The risk of other hematologic malignancies (RR 3.45, 95% CI 1.49,6.79), and overall cancer risk (RR 1.80, 95% CI 1.32,2.40) was increased. Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers. High incidence of gammopathy suggests an important role of the adaptive immune system in the development of GD. Adult patients with GD should be monitored for skeletal disease and cancers including multiple myeloma. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Early onset preeclampsia and second trimester serum markersPRENATAL DIAGNOSIS, Issue 12 2009Geralyn M. Lambert-Messerlian Abstract Objective To examine serum markers measured in the second trimester to identify women who subsequently develop preeclampsia. Methods Clinically defined preeclampsia was confirmed in 45 women who had provided a serum sample as part of Down syndrome screening. Preeclampsia was categorized as mild or severe, as well as early (<32 weeks) or late onset. Each case was matched with five controls based on gestational age and date of serum collection. Stored sera were retrieved and tested for inhibin A, soluble vascular endothelial growth factor receptor 1 (sVEGF R1), placental growth factor (PlGF), and endoglin. Results were converted to multiples of the median (MoM) and compared in case and control pregnancies. Univariate analysis was used to identify the strongest markers, which were then used in a multivariate model. Results Inhibin A, PlGF, and endoglin were consistently associated with preeclampsia, especially for early onset disease. A multivariate model using the three markers could identify 50% of the pregnancies with early onset preeclampsia with a 2% false positive rate. Conclusion The levels of inhibin A, PlGF, and endoglin in the second trimester can be combined using a predictive model to provide individualized risk estimates for early onset preeclampsia. Copyright © 2009 John Wiley & Sons, Ltd. [source] Detection of fetal structural abnormalities at the 11,14 week ultrasound scanPRENATAL DIAGNOSIS, Issue 1 2002M. H. B. Carvalho Abstract The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11,14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11,14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11,14 week scan. Fetal structural abnormalities at the 11,14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd. [source] Inferring Haplotype/Disease Association by Joint Use of Case-Parents Trios and Case-Parent PairsANNALS OF HUMAN GENETICS, Issue 3 2010Yue-Qing Hu Summary Recently interest has been increasing in genetic association studies using several closely linked loci. The HAP-TDT method, which uses case-parents trios is powerful for such a task. However, it is not uncommon in practice that one parent is missing for some reason, such as late onset. The case-parents trios are thus reduced to case-parent pairs. Discarding such data could lead to a severe loss of power. In this paper, we propose the HAP-1-TDT method based on case-parent pairs to detect haplotype/disease association. A permutation-based randomisation technique is devised to assess the significance of the test statistic. Furthermore, the combined statistic HAP-C-TDT is developed to use jointly case-parents trios and case-parent pairs. These test statistics can be applied to either phase-known or phase-unknown data. A number of simulation studies are conducted to investigate the validity of the proposed tests; these studies show that the statistics are robust to population structure. Using several disease genes from the literature, we illustrate that incorporating case-parent pairs into an association study leads to noticeable power gain. Moreover, our simulation results suggest that our method has better size and power than UNPHASED. Finally, in simulated scenarios where there are only a few SNPs and risk is determined by two haplotypes that are complementary or near-complementary, our method has better power than TRIMM. [source] Genotypic Association Analysis Using Discordant-Relative-PairsANNALS OF HUMAN GENETICS, Issue 1 2009T. Yan Summary In practice, family-based design has been widely used in disease-gene association analysis. The major advantage of such design is that it is not subject to spurious association due to population structure such as population stratification (PS) and admixture. A disadvantage is that parental genotypes are hard to obtain if the disease is late onset for which a discordant-relative-pair design is useful. Designs of such kind include full-sib-pair, half-sib-pair, first-cousin-pair, and so on. The closer the relatedness of the pair, the less possible that they are subject to population stratification. On the other hand, the association test using close relative-pairs may be less powerful due to over-matching. Trade-off between these two factors (population structure and over-matching) is the major concern of this study. Some tests, namely McNemar's test, matched Cochran-Armitage trend tests (CATTs), matched maximum efficient robust test (MERT), and Bhapkar's test, are used for testing disease-gene association based on relative-pair designs. These tests are shown to be valid in the presence of PS but not admixture. Numerical studies show that the McNemar's test, additive CATT, MERT, and Bhapkar's test are robust in power, but none of them is uniformly more powerful than the others. In most simulations, the power of any of the tests increases as the pair is more distant. The proposed methods are applied to two real examples. [source] The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritisARTHRITIS & RHEUMATISM, Issue 4 2002Berit Flatř Objective To assess the frequency of sacroiliitis and the radiographic and clinical outcome in juvenile idiopathic arthritis (JIA) and determine patient characteristics, early disease variables, and genetic markers that predict development of sacroiliitis. Methods We performed a retrospective cohort study of 314 (79%) of the 400 JIA patients first admitted to the hospital between 1980 and 1985. The participants were examined after a median disease duration of 14.9 years (range 11.7,25.1). Radiographs of the sacroiliac joints, hips, ankles, and tarsi were obtained and studied in a blinded manner by 2 radiologists. The presence of HLA,DRB1 and DPB1 alleles was determined by genotyping and that of HLA,B27 by serologic testing. Variables relating to the onset and course of the disease were obtained by chart reviews. Results Twenty (6%) of the JIA patients developed radiographic sacroiliitis according to the New York criteria. In 9 patients (45%), sacroiliitis had not been demonstrated before the followup examination. At followup, spinal flexion (lateral and anterior) was reduced in 70,75% of patients with sacroiliitis and in 30,35% of those without sacroiliitis. Compared with the JIA patients without sacroiliitis, those with sacroiliitis more frequently had inflammatory back pain, enthesitis, radiographic changes in the hips and calcanei, erosions of any peripheral joint, and uveitis. Predictors of sacroiliitis were HLA,B27, absence of DPB1*02, hip joint involvement within the first 6 months, and disease onset after age 8 years. The following factors were more common among patients in whom sacroiliitis developed than in other JIA patients: DRB1*04, male sex, family history of ankylosing spondylitis, psoriasis, inflammatory back pain, and enthesitis within the first 6 months. Conclusion In the current study, radiographically evident sacroiliitis had developed in 6% of JIA patients after a median disease duration of 14.9 years. HLA,B27, absence of DPB1*02, late onset of disease, and early hip involvement were predictors of sacroiliitis. [source] Peptide-dominated membranes preceding the genetic takeover by RNA: latest thinking on a classic controversyBIOESSAYS, Issue 10 2009Richard Egel Abstract It is commonly presumed that abiotic membranes were colonized by proteins later on. Yet, hydrophobic peptides could have formed primordial protein-dominated membranes on their own. In a metabolism-first context, "autocatalytically closed" sets of statistical peptides could organize a self-maintaining protometabolism, assisted by an unfolding set of ribotide-related cofactors. Pairwise complementary ribotide cofactors may have formed docking guides for stochastic peptide formation, before replicating RNA emerged from this subset. Tidally recurring wet-drying cycles and an early onset of photosynthetic activities are considered most likely to meet the thermodynamic requirements. Conceivably, the earliest peptide-dominated vesicles were engaged in light harvesting, together with isoprenoid-tethered pigments, rather than providing an external boundary. Early on, the bulk of prebiotic organic matter can have formed a contiguous layer covering the mineral sediment, held in place by colloidal coherence of a hydrogel matrix. This unconventional scenario assumes a late onset of cellular individualization , perhaps from within, resembling endosporogenesis. [source] Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutationsACTA NEUROLOGICA SCANDINAVICA, Issue 2009C. Tzoulis Objectives , To investigate two patients with late onset, progressive external ophthalmoplegia (PEO) and sensory peripheral neuropathy. Materials & Methods , The patients aged 86 and 50 years were investigated clinically including magnetic resonance imaging of the brain, electrophysiological studies and, in one, skeletal muscle biopsy. Molecular studies included sequencing of the whole coding region of the POLG1 gene and mitochondrial DNA (mtDNA) analysis for deletions and depletion. Results , Both patients were compound heterozygous for gene encoding the catalytic subunit of the DNA-polymerase gamma (POLG1) mutations. One had the p.737R and p.W748S mutations while the other carried the p.T251I, p.P587L and p.W748S mutations. While these mutations have been previously described, these combinations are novel. mtDNA studies in skeletal muscle showed evidence of multiple deletions and approximately 64% depletion of the mitochondrial genome. Conclusion , Our findings broaden the genotypic spectrum of POLG -associated PEO and show that in addition to multiple deletions, mtDNA depletion occurs and may contribute to the pathogenesis of this disorder. [source] Use of latanoprost to reduce acute intraocular pressure rise following neodymium: Yag laser iridotomyACTA OPHTHALMOLOGICA, Issue 3 2002Catherine J. Liu ABSTRACT. Purpose: To evaluate the efficacy of latanoprost in reducing acute intraocular pressure (IOP) elevation after neodymium:Yag laser iridotomy (LI). Methods: Primary angle-closure glaucoma (PACG) eyes were randomized to receive premedication with latanoprost and pilocarpine or with pilocarpine only before LI. Postoperative IOP changes were compared with Wilcoxon signed-ranks test using the fellow eyes of 47 patients who had one eye in each group. Results: Postoperative pressure spikes were significantly lower (p =,0.010) in the latanoprost group (4.1 ± 5.0 mmHg) than in the control group (6.7 ± 7.0 mmHg). Mean elevation of IOP was less in the latanoprost group than in the control group at 1 hour (2.5 ± 4.8 versus 4.1 ± 4.7 mmHg, p = 0.013) and 2 hours (0.8 ± 5.6 versus 4.4 ± 8.1 mmHg, p = 0.003) postoperatively. Eleven eyes in the latanoprost group (23.4%) and 20 eyes in the control group (42.6%) developed a rise in IOP ,,6 mmHg (p =,0.048). Conclusion: Latanoprost may reduce the pressure rise following LI in PACG eyes, but its application is limited by a late onset of effect. [source] | ||||||||||||||||||||||||||||