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Isolated Cases (isolated + case)
Selected AbstractsBeneficial lactobacilli in food and feed: long-term use, biodiversity and proposals for specific and realistic safety assessmentsFEMS MICROBIOLOGY REVIEWS, Issue 4 2006Marion Bernardeau Abstract Lactobacilli have played a crucial role in the production of fermented products for millennia. Their probiotic effects have recently been studied and used in new products. Isolated cases of lactobacillemia have been reported in at-risk populations, but lactobacilli present an essentially negligible biological risk. We analyzed the current European guidelines for safety assessment in food/feed and conclude that they are not relevant for the Lactobacillus genus. We propose new specific guidelines, beginning by granting a ,long-standing presumption of safety' status to Lactobacillus genus based on its long history of safe use. Then, based on the available body of knowledge and intended use, only such tests as are useful will be necessary before attributing ,qualified presumption of safety' status. [source] Mutations in RYR1 in malignant hyperthermia and central core disease,HUMAN MUTATION, Issue 10 2006Rachel Robinson Abstract The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation,contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a congenital myopathy characterized on histology by cores and rods. The majority of gene mutations reported are missense changes identified in cases of MH and CCD. In vitro analysis has confirmed that alteration of normal calcium homeostasis is a functional consequence of some of these changes. Genotype,phenotype correlation studies performed using data from MH and CCD patients have also suggested that mutations may be associated with a range of disease severity phenotypes. This review aims to summarize the current understanding of RYR1 mutations reported in association with MH and CCD and the present viewpoint on the use of mutation data to aid clinical diagnosis of these conditions. Hum Mutat 27(10), 977,989, 2006. © 2006 Wiley-Liss, Inc. [source] Field evaluation of the efficacy of tolfenamic acid administered in one single preoperative injection for the prevention of postoperative pain in the dogJOURNAL OF VETERINARY PHARMACOLOGY & THERAPEUTICS, Issue 6 2007E. GRANDEMANGE In this randomized, placebo-controlled, blinded field trial, 62 dogs (of which four were excluded) taken to a veterinary practice for orthopaedic surgery with a postoperative painful component were enrolled to assess the efficacy of a preoperative intramuscular injection of tolfenamic acid (TA) at a dose of 4 mg/kg in preventing postoperative pain. The animals were clinically examined at T1 + 1H, T1 + 4H, T1 + 24H (T1 = extubation). The efficacy results showed a statistical effect of TA in preventing postoperative pain with the evolution in the pain statistically in favour of TA treatment (Visual Analogue Scale). This was confirmed by the sum of the scores calculated at T1 + 24H that was statistically higher in the placebo group, and by the evolution in the respiratory rate, which was statistically lower in the TA-treated animals after surgery. TA treatment was very well tolerated as no clinical sign (except one isolated case of vomiting and diarrhoea, i.e. 3.5%) or change in biochemical and haematological values was observed and as no interaction with the anaesthetic drugs and with marbofloxacin was reported. [source] Enron/Andersen: Crisis in U.S. Accounting and Lessons for GovernmentPUBLIC BUDGETING AND FINANCE, Issue 3 2005Richard E. Brown Accounting and auditing play a key role in the belief of ordinary taxpayers and investors in their institutions. This is equally true of the private and governmental sectors. The Enron/Andersen scandal, regrettably, is not an isolated case, but rather merely indicative of underlying, structural flaws in our financial systems. Moreover, there is evidence that some of these flaws may be present in governmental accounting and auditing. The Sarbanes-Oxley Act of 2002 is an attempt to address these problems in the private sector, but does not address concerns in the public sector. Public sector accounting issues that need to be addressed and monitored include substandard audit work and related liability issues, the appropriate funding of GASB so as to ensure its independence, auditor fees, and auditor independence questions including protection of elected and appointed state auditors. [source] Brief communication: Plio-Pleistocene eagle predation on fossil cercopithecids from the Humpata Plateau, southern AngolaAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 3 2009Christopher C. Gilbert Abstract Recent studies suggest a large raptor such as the crowned eagle (Stephanaoetus coronatus) was responsible for collecting at least a portion of the primate fauna from the South African fossil site of Taung, including its lone hominin specimen. This taphonomic signature at Taung is currently regarded as a unique and, most likely, isolated case in primate and human evolution. However, the activities of large, carnivorous birds should also be detectable at other primate fossil localities in Africa if raptors have been a strong selective force throughout primate evolution. Over the last 60 years, a collection of extinct cercopithecids has been assembled from several cave breccias on the Humpata Plateau in southern Angola. The material, dated near the Plio-Pleistocene boundary, includes an assortment of craniodental and postcranial remains variably assigned to Papio (Dinopithecus) cf. quadratirostris, Parapapio, Cercopithecoides, and Theropithecus. We compare the Angolan and Taung material to remains of extant primates killed by crowned eagles in the Ivory Coast's Tai National Park. Our analysis indicates that the size distribution and composition of fauna from the localities is quite similar and that there are striking consistencies in damage to the crania from each site. The absence of large bodied (>20 kg) primates and other mammalian taxa at the Taung hominin locality and Tai, and their rarity in Angola, combined with the strong likelihood that raptor nests were positioned near fissure openings at both fossil localities, provides additional support for eagle involvement. On the basis of this evidence, we conclude that at least some of the Angolan cercopithecids were most likely raptor prey and hypothesize that raptor predation has been a strong and perhaps underappreciated selective force during the course of primate evolution. Am J Phys Anthropol 2009. © 2009 Wiley-Liss, Inc. [source] Implications of REACH for developing countriesENVIRONMENTAL POLICY AND GOVERNANCE, Issue 1 2008Frank Ackerman Abstract The new European Union (EU) chemicals regulation, the Registration, Evaluation and Authorisation of Chemicals, or REACH, went into effect in 2007. In the extensive advance discussion of the expected impacts of REACH, questions were raised about the effects of this new chemical policy on developing countries. In particular, will it harm the economies of the group of African, Caribbean and Pacific (ACP) countries that historically have been connected to Europe? We found, in brief, that there are only limited, isolated cases where REACH could be problematical for ACP exporters. Almost all ACP exports subject to REACH face insignificant obstacles from the new regulation. Copyright © 2007 John Wiley & Sons, Ltd and ERP Environment. [source] Assessment of the carrier status by pedigree analysis in some families from IndiaHAEMOPHILIA, Issue 5 2002M. Singh Summary., Pedigree analysis is an important tool to assess the carrier status of the females in the families of haemophiliac patients. A study was conducted on 85 families, of which 75 were of haemophilia type A and 10 of haemophilia type B. The probability values of the females being carriers were calculated by the Bayesian method. The results revealed that 45 mothers were genetic obligate carriers and the remaining 40 probable, hence the transmission was of familial nature in 45 families, whereas the remaining 40 were categorized as isolated cases. The probability values of 425 females were calculated and a wide range of probability values ranging from 0.0295 to 1 was observed. [source] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion,HUMAN MUTATION, Issue 3 2009Paola S. Denora Abstract Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. © 2008 Wiley-Liss, Inc. [source] A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency,HUMAN MUTATION, Issue 1 2004Marilyn M. Gordon Abstract Congenital intrinsic factor (IF) deficiency is a disorder characterized by megaloblastic anemia due to the absence of gastric IF (GIF, GenBank NM_005142) and GIF antibodies, with probable autosomal recessive inheritance. Most of the reported patients are isolated cases without genetic studies of the parents or siblings. Complete exonic sequences were determined from the PCR products generated from genomic DNA of five affected individuals. All probands had the identical variant (g.68A>G) in the second position of the fifth codon in the coding sequence of the gene that introduces a restriction enzyme site for Msp I and predicts a change in the mature protein from glutamine5 (CAG) to arginine5 (CGG). Three subjects were homozygous for this base exchange and two subjects were heterozygous, one of which was apparently a compound heterozygote at positions 1 and 2 of the fifth codon ([g.67C>G] + [g.68A>G]). The other patient, heterozygous for position 2, had one heterozygous unaffected parent. Most parents were heterozygous for this base exchange, confirming the pattern of autosomal recessive inheritance for congenital IF deficiency. cDNA encoding GIF was mutated at base pair g.68 (A>G) and expressed in COS-7 cells. The apparent size, secretion rate, and sensitivity to pepsin hydrolysis of the expressed IF were similar to native IF. The allelic frequency of g.68A>G was 0.067 and 0.038 in two control populations. This sequence aberration is not the cause of the phenotype, but is associated with the genotype of congenital IF deficiency and could serve as a marker for inheritance of this disorder. Hum Mutat 23:85,91, 2004. © 2003 Wiley-Liss, Inc. [source] Investigating the role of heparin sulfate proteoglycans in hereditary multiple exostoses (HME) tumourigenesisINTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, Issue 4 2004Z.M. Scholefield Introduction Heparin sulfate (HS) has long been implicated in the bone deformity hereditary multiple exostoses (HME), and it is now clear that HME is associated with mutations in the HS biosynthetic genes EXT1 and EXT2. Interestingly, HME is also associated with an increased risk of chondro- and osteo-sarcomas. Methods and results Preliminary analysis of GAG samples purified from fibroblasts of both HME and isolated non-HME exostoses patients reveal a dramatic shift in the ratio of CS : HS, with the HME and isolated cases having a much higher proportion of CS relative to normal controls. This is true in the case of both shed and cell surface material but is far more extreme in the latter, with the HS reducing from approximately 45% in the controls to less than 10% in HME patients. Initial analysis also reveals shortened chain length within these samples; indeed they often have two populations of chains present. Simple analysis of the total disaccharide composition of these samples demonstrates no significant differences against controls. However, detailed analysis of the subpopulations of chains (as determined by chain length) within these samples as well as cartilaginous samples from exostoses patients may provide further insight into the changes that occur within the biosynthetic pathway following disrupted EXT function. We are also carrying out immunocytochemistry with a variety of HS-specific antibodies with the aim to further investigate normal HS structure and localization. This is being carried out on human primary chondrocytes isolated from normal patients and also adult mesenchymal stem cells as they undergo differentiation into chondrocytes. HS has been identified in both these cell types, and it is hoped that the manipulation of these cells through RNAi of different enzymes of the HS biosynthetic pathway will provide a suitable model for studying what changes may occur in cellular HS structures over the initial differentiation process in the growth plate. Discussion Together, these investigations should provide a good model to allow us to determine the role of HS in chondrocyte differentiation and maturation in both normal and diseased states. [source] Villous adenoma of the urinary bladderINTERNATIONAL JOURNAL OF UROLOGY, Issue 6 2008Wooseuk Sung Abstract: Villous adenomas arising in the urinary tract are an uncommon occurrence. They have been identified in the urachus, urethra, prostate, and throughout the bladder. Villous adenomas arising in the bladder are rare tumors that have been described as isolated cases and a few case series. We report a new case of a large villous adenoma arising in the bladder that was treated by transurethral resection. [source] Immunoreactivity of CD99 in invasive malignant melanomaJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2006Anne E. Wilkerson Background:, CD99, also known as p30/32, is a glycoprotein product of the MIC2 gene. It was originally utilized in immunohistochemistry as a unique marker for Ewing sarcoma, other primitive neuroectodermal tumors, and subsequently in other tumors. Its expression in malignant melanoma (MM) has not been well documented, with just two isolated cases of MM recently reported. Recent studies have documented CD99 expression in a significant percentage of atypical fibroxanthomas (AFX), posing potential diagnostic problems in differentiating these two entities. As mistaking MM for AFX based on immunohistochemical staining pattern has significant consequences, we sought to determine the percentage of invasive MM in our archives that have this staining pattern. Methods:, Seventy-eight cases of invasive melanoma were retrieved from our files. Each case was stained with mouse anti-human CD99 and evaluated for membranous expression. Results:, Our evaluation revealed that 47 of 78 MM cases (60%) stain positive for CD99. Conclusion:, This study is the first to demonstrate, in a large series, the prevalence of CD99 expression in primary cutaneous melanoma. Additionally, this introduces in the histologic differential diagnosis of CD99 expressing dermal spindle cell lesions. [source] Schooling as a Knowledge System: Lessons from Cramim Experimental SchoolMIND, BRAIN, AND EDUCATION, Issue 1 2010David Chen This article describes an experiment utilizing a research and development strategy to design and implement an innovative school for the future. The development of Cramim Elementary School was a joint effort of researchers from Tel-Aviv University and the staff of the school. The design stage involved constructing a new theoretical framework that defined school as a knowledge system, based on the state of the art, interdisciplinary study of the nature of humans, and the nature of knowledge. A new school design emerged based on this theoretical framework and the school was opened in 1995. Action research followed for 8 years and the results indicated that the school has emerged as a learning organization and successfully integrated knowledge technologies into the learning processes of both students and teachers. Differentiated teaching strategy resulted in a significant increase in achievements (+11% in maths, literacy, and science; +10% in literacy in kindergarten; persistence of higher achievement in junior high schools). The greatest beneficiaries were low-achieving students. As the school is a highly complex system, individual variables contributing to the increased effectiveness could not be isolated. The article's conclusion is that experimental schools are a productive strategy to bring about changes, but unless these schools are part and parcel of the culture of the mainstream education system culture, they are destined to remain isolated cases. [source] Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases.PRENATAL DIAGNOSIS, Issue 7 2004A population-based study Abstract Objectives To estimate the prognosis of prenatally diagnosed isolated congenital diaphragmatic hernia (PDICDH) treated with ,immediate planned care' (IPC) between 1999 and 2003 in Eastern Brittany. Methods The prognosis of PDICDH was compared with the prognosis of the other live-born CDH, either prenatally undiagnosed or not having had IPC. IPC consisted in prenatal lung maturation with corticosteroids, elective caesarean section at 37 weeks, immediate intubation, surfactant, high- frequency ventilation or oscillation, nitric oxide, intravenous prostacyclin, anaesthesia and haemodynamic support. Surgical repair was performed in the NICU 34 h after birth. Results The incidence of CDH was 0.8, with a prenatal diagnosis rate of 27/30 (90%), leading to a termination of pregnancy in nine cases. Ten CDH were associated with other malformations. IPC in PDICDH was performed in 12 cases. The survival rate of PDICDH with IPC was 11/12 versus 1/9 in CDH with no IPC or no prenatal diagnosis (p < 0.01). Logistic regression analysis showed that IPC was determinant for survival (p < 0.01). Conclusion Prenatal diagnosis of isolated CDH treated with immediate planned care is associated with a high survival rate. This suggests that prenatal diagnosis associated with specifically adapted postnatal procedure may improve the prognosis of isolated CDH. Copyright © 2004 John Wiley & Sons, Ltd. [source] Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe AmplificationANNALS OF HUMAN GENETICS, Issue 4 2010Alexandre Serra Summary Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO2, and low PaO2 during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic diseases such as Hirschsprung disease (HSCR). Since genomic rearrangements in particularly sensitive areas of the RET protooncogene and/or associated genes may account for the CCHS/HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in CCHS/HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA). We have screened 27 CCHS and 11 CCHS/HSCR patients for genomic rearrangements in RET, ZEB2, EDN3 and GDNF and did not identify any deletion or amplification in these four genes in all patients. We conclude that genomic rearrangements in RET are rare and were not responsible for the CCHS/HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether given the size of the cohort. [source] Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996,2002,BIRTH DEFECTS RESEARCH, Issue 6 2008Tasneem Husain Abstract BACKGROUND:In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry. METHODS: Data on birth defects ascertained from pregnancies in 1996,2002 were obtained from the Texas Birth Defects Registry. Using Poisson regression, we calculated crude and adjusted associations between maternal and infant characteristics and birth defects thought to be related to vascular disruption. We repeated the analysis using isolated cases and cases occurring in mothers <20 years. RESULTS: The most commonly shared pattern was observed for plurality and five defects: large intestinal atresia (PR 3.67; CI: 1.63,7.13), renal agenesis (PR 2.05; CI: 1.55,2.65), transverse limb deficiency (PR 1.85; CI: 1.28,2.57), porencephaly (PR 5.18; CI: 2.40,9.87), and Goldenhar syndrome (PR 3.45; CI: 1.04,8.53). Hispanics had the highest prevalence of gastroschisis (PR 1.21; CI: 1.05,1.40), transverse limb deficiency (PR 1.19; CI: 1.01,1.40), microtia/anotia (PR 2.22; CI: 1.83,2.70), and Poland anomaly (PR 1.90; CI: 1.26,2.93). Male infants were at greatest risk for renal agenesis (PR 1.58; CI: 1.40,1.80), porencephaly (PR 1.66; CI: 1.03,2.72), and Poland anomaly (PR 1.52; CI: 1.05,2.21). CONCLUSIONS: Our study confirmed findings in previous studies, but also uncovered several new associations. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source] Secular decreasing trend of the frequency of hypospadias among newborn male infants in SpainBIRTH DEFECTS RESEARCH, Issue 2 2004María Luisa Martínez-Frías Abstract BACKGROUND The frequency of hypospadias is not uniform worldwide. Several countries have reported an increase in its frequency at birth. Although a better ascertainment of the minor forms has been considered as an explanation, the potential effect of environmental endocrine disrupters has also been proposed. We studied the secular trend of hypospadias in Spain over the past 22 years, separating the minor and major forms. METHODS We used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) registry, analyzing the frequency in two different periods: from 1978 to 1995, and from 1996 to 2002. To evaluate the "step" of the frequency between the two periods, we applied a parametric Student's t -test, and the nonparametric Mann-Whitney rank test. RESULTS The birth frequency of isolated and total hypospadias was quite stable between 1978 and 1995. In 1996, it decreased dramatically in a step, essentially due to isolated cases with minor forms of hypospadias. Study of the geographical distribution by the 17 Spanish regions showed that the frequency step occurred in nearly all of them. CONCLUSIONS It is difficult to consider that the observed decrease of the frequency of minor forms of hypospadias could be due to less accurate reporting of these minor forms in all 87 hospitals in the same year without any previous physician agreement. This decrease rather suggests a change in some product or exposure affecting the whole country. We think that the observed change in the frequency cannot be attributable to a lower exposure to endocrine disrupters or the voluntary interruption of gestation. Birth Defects Research (Part A) 67:000,000, 2003. © 2004 Wiley-Liss, Inc. [source] Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunctionBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2004Britta Fricke Summary This report concerns congenitally Na+,K+ leaky red cells of the ,hereditary stomatocytosis' class. Three new isolated cases and one new pedigree are described, and one previously reported case is expanded. In all cases, Western blotting of red cell membranes revealed a deficiency in the 32 kDa membrane protein, stomatin. All showed pronounced cation leaks at 37°C with markedly abnormal intracellular Na+ and K+ concentrations, like all other such stomatin-deficient cases. Consistent with recent findings in two previously described British pedigrees, immunocytochemistry demonstrated that the deficiency of stomatin was not complete. On typical blood films, some red cells showed positive stomatin immunoreactivity, while most were negative, although in one case only a minority were negative. All platelets and neutrophils were stomatin positive. The cases differed markedly between themselves with regard to the temperature dependence of the passive leak to K+. Three showed a simple monotonic temperature dependence, while two showed a minimum at around 20,25°C, such that the cells were extremely leaky at 0°C, giving the phenotype known as ,cryohydrocytosis'. These patients are the only two known cases of stomatin-deficient cryohydrocytosis. Both showed a congenital syndrome of mental retardation, seizures, cataracts and massive hepatosplenomegaly, probably defining a new haemato-neurological syndrome. [source] Trapezius aplasia: Indications for a dual developmental origin of the trapezius muscleCLINICAL ANATOMY, Issue 6 2006Linda S. Nooij Abstract Aplasia of the trapezius muscle is a rarely encountered, mostly asymptomatic anomaly. We report a case of isolated unilateral complete trapezius aplasia that was noticed during a dissection course. Apart from isolated cases, trapezius aplasia may occur in different combinations with other muscle aplasias. We suggest that the patterns of concomitant muscle involvement are indicative of a combined occipital and cervical somitogenic origin. Clin. Anat. 19:547,549, 2006. © 2006 Wiley-Liss, Inc. [source] Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphologyCLINICAL GENETICS, Issue 3 2004TC Cox The rapid proliferative expansion and complex morphogenetic events that coordinate the development of the face underpin the sensitivity of this structure to genetic and environmental insult and provide an explanation for the high incidence of midfacial malformation. Most notable of these malformations is cleft lip with or without cleft palate (CLP) that, with an incidence of between one in 600 and one in 1000 live births, is the fourth most common congenital disorder in humans. Despite the obvious global impact of the disorder and some recent progress in identifying causative genes for some prominent syndromal forms, our knowledge of the key genetic factors contributing to the more common isolated cases of CLP is still remarkably patchy. The current understanding of the molecular and cellular processes that orchestrate morphogenesis of the midface, with emphasis on events leading to fusion of the lip and primary palate, is detailed in this review. The roles of crucial factors identified from relevant animal model systems, including BMP4 and SHH, and the likely events perturbed by key genes pinpointed in human studies [such as PVRL1, IRF6p63, MID1, MSX1, and PTCH1] are discussed in this light. New candidates for human CLP genes are also proposed. 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