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Sample records for abnormal development

  1. Mechanisms of abnormal brain development leading to transsexualism (review

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    Full Text Available Overview of national and world literature on sexual autoidentification is analyzed. Prenatal brain development abnormalities leading to transsexualism are discussed. Results of own cytogenetic analysis, ооgenesis and spermatоgenesis examination are reported.

  2. Mechanisms of abnormal brain development leading to transsexualism (review

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Overview of national and world literature on sexual autoidentification is analyzed. Prenatal brain development abnormalities leading to transsexualism are discussed. Results of own cytogenetic analysis, ооgenesis and spermatоgenesis examination are reported.

  3. [DNA methylation and development abnormalities in cloned animals].

    Science.gov (United States)

    Yang, Rong-Rong; Li, Xiang-Yun

    2007-09-01

    Most cloned animals by nuclear transfer were dead before their births, and only a few can develop to their late gestation or adulthood. Although some cloned offsprings can survive, they often have some development disfigurements and abnormal phenotypes in various degrees. DNA methylation is an important modifiable manner of epigenetic dominating the correct expression of gene. It is a main instrument of regulating genome function and plays a prominent part in the embryonic normal development. Through researching the pattern of DNA methylation, we found that there were many abnormal DNA methylation patterns in cloned animals, which might be the primary reasons for inducing premature death of cloned embryos and development abnormalities of cloned animals. This article discusses the function of DNA methylation, the aberrant DNA methylation patterns in cloned animals, and the reasons of inducing abnormal DNA methylation in cloned animals.

  4. Chromosomal abnormalities and embryo development in recurrent miscarriage couples.

    Science.gov (United States)

    Rubio, C; Simón, C; Vidal, F; Rodrigo, L; Pehlivan, T; Remohí, J; Pellicer, A

    2003-01-01

    Chromosomal abnormalities are an important cause of spontaneous abortion and recurrent miscarriage (RM). Therefore, we have analysed the incidence of chromosomal abnormalities and embryo development in patients with RM. Preimplantation genetic diagnosis (PGD) was performed on 71 couples with RM and 28 couples undergoing PGD for sex-linked diseases (control group). Chromosomes 13, 16, 18, 21, 22, X and Y were analysed by fluorescence in-situ hybridization. The implantation rate in RM patients was 28% and three patients (13%) miscarried. The percentage of abnormal embryos was significantly increased (P abnormal in 19 cycles (22.1%) and repeated PGD cycles yielded similar rates of chromosomal abnormalities in 14 couples. Anomalies for chromosomes 16 and 22 were significantly higher (P abnormal embryos (61.7 versus 24.9%; P chromosomally abnormal embryos, of which some are able to develop to the blastocyst stage. IVF plus PGD is an important step in the management of these couples, but the technique has to move towards a full chromosome analysis.

  5. Normal and Abnormal Embryonic Development in Virtual Reality

    OpenAIRE

    Baken, Leonie

    2014-01-01

    markdownabstract__Abstract__ Research of the past years indicates that the periconception period, the period including gametogenesis and embryogenesis, determines growth and development of the embryo and subsequent pregnancy outcome. Prenatal care starts to focus more on the first-trimester of pregnancy, where growth and development rates are the highest. The main aim of this thesis is to describe normal and abnormal development of embryonic and early fetal life using the innovative I-Space V...

  6. Nonsyndromic Craniosynostosis and Associated Abnormal Speech and Language Development.

    Science.gov (United States)

    Naran, Sanjay; Miller, Matthew; Shakir, Sameer; Ware, Benjamin; Camison, Liliana; Ford, Matthew; Goldstein, Jesse; Losee, Joseph E

    2017-07-01

    Although many metrics for neurodevelopment in children with nonsyndromic craniosynostosis have been analyzed, few have directly examined early language acquisition and speech development. The authors characterized language acquisition and speech development in children with nonsyndromic craniosynostosis. The authors' institutional database was queried for nonsyndromic craniosynostosis from 2000 to 2014. Patients with an identified syndrome were excluded. Specific data elements included age, gender, velopharyngeal adequacy by means of the Pittsburgh Weighted Speech Scale, evaluation for anatomical motor delay, language acquisition delay/disorder, articulation or speech sound production delays/disorders, and whether speech therapy was recommended. Diagnosis of a submucous cleft palate was noted. One hundred one patients met inclusion criteria, of which 57.4 percent were male. Average age at the time of the most recent speech evaluation was 6.1 years (range, 2.31 to 17.95 years); 43.6 percent had normal speech/language metrics and 56.4 percent had one or more abnormalities, including anatomical motor delay/disorder (29.7 percent), language acquisition delay/disorder (21.8 percent), articulation or speech production delay/disorder (4.0 percent), hypernasality (15.8 percent), and velopharyngeal insufficiency or borderline competency (23.8 percent). Average Pittsburgh Weighted Speech Scale score was 1.3 (range, 0 to 5), and 29.7 percent (n = 30) of patients were recommended to have speech therapy. In addition, 25.8 percent of patients were diagnosed with a submucous cleft palate. One in four patients with nonsyndromic craniosynostosis carried a diagnosis of submucous cleft palate. The authors found that abnormal speech and language development occurs in one in 1.7 patients with nonsyndromic craniosynostosis, and that speech therapy for such abnormal development is warranted in one in 3.4 of them-a prevalence two to five times higher compared with the general pediatric

  7. Genetic insights into normal and abnormal heart development.

    Science.gov (United States)

    Nemer, Mona

    2008-01-01

    Congenital heart defects (CHDs) affect 1-2% of newborn children and are the leading cause of death in infants under 1 year of age. CHDs represent the single largest class of birth defects and account for 25% of all human congenital abnormalities. Numerous epidemiologic studies have established the heritable nature of CHDs. However, despite the remarkable progress of the past decade, very few CHD-causing genes have been identified so far. Molecular and genetic analysis of heart development--which requires the execution of specific genetic programs--has led to the identification of essential cardiac regulators and mutations that are linked to human CHD. Elucidation of the mechanisms of action of these transcription factors has also provided a molecular framework that will continue to help furthering our understanding of the molecular basis of normal and abnormal heart growth. This review will summarize present knowledge of cardiac development and illustrate how analysis of heart development has helped understand the genetic basis of some CHDs and how these advances could translate into better prevention, diagnosis, and care of congenital heart disease.

  8. Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.

    Science.gov (United States)

    Aspatwar, Ashok; Tolvanen, Martti E E; Jokitalo, Eija; Parikka, Mataleena; Ortutay, Csaba; Harjula, Sanna-Kaisa E; Rämet, Mika; Vihinen, Mauno; Parkkila, Seppo

    2013-02-01

    Congenital ataxia and mental retardation are mainly caused by variations in the genes that affect brain development. Recent reports have shown that mutations in the CA8 gene are associated with mental retardation and ataxia in humans and ataxia in mice. The gene product, carbonic anhydrase-related protein VIII (CARP VIII), is predominantly present in cerebellar Purkinje cells, where it interacts with the inositol 1,4,5-trisphosphate receptor type 1, a calcium channel. In this study, we investigated the effects of the loss of function of CARP VIII during embryonic development in zebrafish using antisense morpholino oligonucleotides against the CA8 gene. Knockdown of CA8 in zebrafish larvae resulted in a curved body axis, pericardial edema and abnormal movement patterns. Histologic examination revealed gross morphologic defects in the cerebellar region and in the muscle. Electron microscopy studies showed increased neuronal cell death in developing larvae injected with CA8 antisense morpholinos. These data suggest a pivotal role for CARP VIII during embryonic development. Furthermore, suppression of CA8 expression leads to defects in motor and coordination functions, mimicking the ataxic human phenotype. This work reveals an evolutionarily conserved function of CARP VIII in brain development and introduces a novel zebrafish model in which to investigate the mechanisms of CARP VIII-related ataxia and mental retardation in humans.

  9. Cytomegalovirus induces abnormal chondrogenesis and osteogenesis during embryonic mandibular development

    Directory of Open Access Journals (Sweden)

    Bringas Pablo

    2008-03-01

    Full Text Available Abstract Background Human clinical studies and mouse models clearly demonstrate that cytomegalovirus (CMV disrupts normal organ and tissue development. Although CMV is one of the most common causes of major birth defects in humans, little is presently known about the mechanism(s underlying CMV-induced congenital malformations. Our prior studies have demonstrated that CMV infection of first branchial arch derivatives (salivary glands and teeth induced severely abnormal phenotypes and that CMV has a particular tropism for neural crest-derived mesenchyme (NCM. Since early embryos are barely susceptible to CMV infection, and the extant evidence suggests that the differentiation program needs to be well underway for embryonic tissues to be susceptible to viral infection and viral-induced pathology, the aim of this study was to determine if first branchial arch NCM cells are susceptible to mCMV infection prior to differentiation of NCM derivatives. Results E11 mouse mandibular processes (MANs were infected with mouse CMV (mCMV for up to 16 days in vitro. mCMV infection of undifferentiated embryonic mouse MANs induced micrognathia consequent to decreased Meckel's cartilage chondrogenesis and mandibular osteogenesis. Specifically, mCMV infection resulted in aberrant stromal cellularity, a smaller, misshapen Meckel's cartilage, and mandibular bone and condylar dysmorphogenesis. Analysis of viral distribution indicates that mCMV primarily infects NCM cells and derivatives. Initial localization studies indicate that mCMV infection changed the cell-specific expression of FN, NF-κB2, RelA, RelB, and Shh and Smad7 proteins. Conclusion Our results indicate that mCMV dysregulation of key signaling pathways in primarily NCM cells and their derivatives severely disrupts mandibular morphogenesis and skeletogenesis. The pathogenesis appears to be centered around the canonical and noncanonical NF-κB pathways, and there is unusual juxtaposition of abnormal stromal

  10. Normal and Abnormal Embryonic Development in Virtual Reality

    NARCIS (Netherlands)

    L. Baken (Leonie)

    2014-01-01

    markdownabstract__Abstract__ Research of the past years indicates that the periconception period, the period including gametogenesis and embryogenesis, determines growth and development of the embryo and subsequent pregnancy outcome. Prenatal care starts to focus more on the first-trimester of

  11. Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

    NARCIS (Netherlands)

    Burger, Nicole B.; Bekker, Mireille N.; Kok, Evelien; de Groot, Christianne J. M.; Martin, James F.; Shou, Weinian; Scambler, Peter J.; Lee, Youngsook; Christoffels, Vincent M.; Haak, Monique C.

    2015-01-01

    To assess whether cardiac failure, because of cardiac defects, and abnormal jugular lymphatic development are involved in nuchal edema (NE) - the morphological equivalent of increased nuchal translucency - in various euploid mutant mouse models. Mouse embryos with lymphatic abnormalities and NE

  12. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report.

    Science.gov (United States)

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  13. Development of Abnormal Operating Strategies for Station Blackout in Shutdown Operating Mode in Pressurized Water Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Duk-Joo; Lee, Seung-Chan; Sung, Je-Joong; Ha, Sang-Jun [KHNP CRI, Daejeon (Korea, Republic of); Hwang, Su-Hyun [FNC Tech. Co., Yongin (Korea, Republic of)

    2016-10-15

    Loss of all AC power is classified as one of multiple failure accident by regulatory guide of Korean accident management program. Therefore we need develop strategies for the abnormal operating procedure both of power operating and shutdown mode. This paper developed abnormal operating guideline for loss of all AC power by analysis of accident scenario in pressurized water reactor. This paper analyzed the loss of ultimate heat sink (LOUHS) in shutdown operating mode and developed the operating strategy of the abnormal procedure. Also we performed the analysis of limiting scenarios that operator actions are not taken in shutdown LOUHS. Therefore, we verified the plant behavior and decided operator action to taken in time in order to protect the fuel of core with safety. From the analysis results of LOUHS, the fuel of core maintained without core uncovery for 73 minutes respectively for opened RCS states after the SBO occurred. Therefore, operator action for the emergency are required to take in 73 minutes for opened RCS state. Strategy is to cooldown by using spent fuel pool cooling system. This method required to change the plant design in some plant. In RCS boundary closed state, first abnormal operating strategy in shutdown LOUHS is first abnormal operating strategy in shutdown LOUHS is to remove the residual heat of core by steam dump flow and auxiliary feedwater of SG.

  14. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly

    Energy Technology Data Exchange (ETDEWEB)

    Jacquemin, C. [King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia). Radiology Dept.; Mullaney, P. [Paediatric Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia); Bosley, T.M. [Neuro-Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia)

    2001-02-01

    We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease. (orig.)

  15. The development and significance of abnormal stereotyped behaviours in tethered sows

    NARCIS (Netherlands)

    Cronin, G.M.

    1985-01-01

    The development and performance of abnormal stereotyped behaviours (stereotypies) by tethered sows were studied in order to investigate the consequences of the behaviours for animal welfare and sow productivity.

    In Chapter 2, the behaviour of 36 tethered sows in a commercial herd

  16. Children born to women treated for hypothyroidism during pregnancy show abnormal corpus callosum development.

    Science.gov (United States)

    Samadi, Arash; Skocic, Jovanka; Rovet, Joanne F

    2015-05-01

    Thyroid hormone (TH) is essential for the developing brain, and because the fetal thyroid develops relatively late in gestation, the maternal TH supply is critical for fetal brain development. However, if the mother has hypothyroidism during pregnancy, fetal brain and neuropsychological development may be compromised. Rodents experiencing maternal TH insufficiency show abnormal corpus callosum (CC) morphology, but it is not known if children born to women treated for hypothyroidism (HYPO) show similar effects. The purpose of the current study was to investigate HYPO for CC morphology and morphometry and to determine whether any specific CC abnormalities were associated aspects of maternal hypothyroidism and were correlated with reduced neuropsychological functioning in the children. ANALYZE software was used to trace CCs in archived magnetic resonance imaging scans from 22 HYPO and 22 matched controls. Areas of two sub-regions and six segments and different shape metrics (angles, lengths, ratios) were determined. CC parameters were correlated with maternal thyrotropin (TSH) values and number of hypothyroid trimesters as well as the child's neuropsychological test performance. HYPO showed a smaller anterior CC and genu and larger posterior CC and splenium areas than controls as well as shape abnormalities in genu and splenium. Results were correlated with the duration of maternal hypothyroidism. Executive function skills were positively associated with genu size in HYPO, while verbal comprehension skills were negatively associated with splenium and overall posterior CC sizes. Maternal hypothyroidism contributes to CC abnormalities in the offspring, and effects differ for anterior versus posterior CC regions.

  17. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

    Directory of Open Access Journals (Sweden)

    Yi Liu

    Full Text Available Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2(ex4/5 splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition helix of the DNA-binding homeodomain. The morphological phenotype of pitx2(ex4/5 morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6-8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2(ex4/5 morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates.

  18. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

    Science.gov (United States)

    Liu, Yi; Semina, Elena V

    2012-01-01

    Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2(ex4/5) splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain. The morphological phenotype of pitx2(ex4/5) morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6-8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2(ex4/5) morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates.

  19. Patterns of development and abnormalities among tadpoles in a constructed wetland receiving treated wastewater.

    Science.gov (United States)

    Ruiz, Alina M; Maerz, John C; Davis, Andrew K; Keel, M Kevin; Ferreira, Andrew R; Conroy, Michael J; Morris, Lawrence A; Fisk, Aaron T

    2010-07-01

    Constructed wetlands are promoted for effectiveness at treating wastewater and potential value as wildlife habitat; however, wildlife performance studies in treated wastewater wetlands are limited. We used repeated surveys of larval amphibians along three wetland systems and four reference sites to test the hypothesis that bullfrog tadpoles exposed to direct inputs of treated wastewater develop slower, show a higher frequency of abnormalities, and are smaller at metamorphosis compared to tadpoles from reference ponds. Bullfrog tadpoles from wastewater wetlands were similar in size at metamorphosis compared to tadpoles from reference sites; however, they did show a much higher frequency of abnormalities including severe edema, scoliosis, and extreme calcinosis of soft tissues. Calcinosis was novel to the literature on amphibian abnormalities, the most frequent abnormality, and restricted exclusively to treatment wetlands. Within the constructed wetlands, tadpole development was slower and the frequency of scoliosis and calcinosis was higher in those cells receiving direct inputs of treated wastewater. Our results suggest that portions of constructed wetlands that directly receive treated wastewater may be poor amphibian habitat.

  20. A curious abnormally developed embryo of the pill millipede Glomeris marginata (Villers, 1789)

    OpenAIRE

    Janssen, Ralf

    2013-01-01

    This paper reports on an abnormally developed embryo (ADE) of the common pill millipede Glomeris marginata. This ADE represents a modified case of Duplicitas posterior, in which two posterior ends are present, but only one anterior end. While the major posterior germ band of the embryo appears almost normally developed, the minor posterior germ band is heavily malformed, has no clear correlation to the single head, little or no ventral tissue, and a minute amount of yolk. The anterior end of ...

  1. A curious abnormally developed embryo of the pill millipede Glomeris marginata (Villers, 1789)

    OpenAIRE

    Ralf Janssen

    2013-01-01

    Abstract This paper reports on an abnormally developed embryo (ADE) of the common pill millipede Glomeris marginata . This ADE represents a modified case of Duplicitas posterior , in which two posterior ends are present, but only one anterior end. While the major posterior germ band of the embryo appears almost normally developed, the minor posterior germ band is heavily malformed, has no clear correlation to the single head, little or no ventral tissue, and a minute amount of yolk. The anter...

  2. Cranial index of children with normal and abnormal brain development in Sokoto, Nigeria: A comparative study.

    Science.gov (United States)

    Musa, Muhammad Awwal; Zagga, Abdullahi Daudu; Danfulani, Mohammed; Tadros, Aziz Abdo; Ahmed, Hamid

    2014-04-01

    Abnormal brain development due to neurodevelopmental disorders in children has always been an important concern, but yet has to be considered as a significant public health problem, especially in the low- and middle-income countries including Nigeria. The aim of this study is to determine whether abnormal brain development in the form of neurodevelopmental disorders causes any deviation in the cranial index of affected children. This is a comparative study on the head length, head width, and cranial index of 112 children (72 males and 40 females) diagnosed with at least one abnormal problem in brain development, in the form of a neurodevelopmental disorder (NDD), in comparison with that of 218 normal growing children without any form of NDD (121 males and 97 females), aged 0-18 years old seen at the Usmanu Danfodiyo University Teaching Hospital, Sokoto, over a period of six months, June to December, 2012. The head length and head width of the children was measured using standard anatomical landmarks and cranial index calculated. The data obtained was entered into the Microsoft excel worksheet and analyzed using SPSS version 17. The mean Cephalic Index for normal growing children with normal brain development was 79.82 ± 3.35 and that of the children with abnormal brain development was 77.78 ± 2.95 and the difference between the two groups was not statistically significant (P > 0.05). It can be deduced from this present study that the cranial index does not change in children with neurodevelopmental disorders.

  3. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.

    Science.gov (United States)

    Akinci, Baris; Koseoglu, Fatos Dilan; Onay, Huseyin; Yavuz, Sevgi; Altay, Canan; Simsir, Ilgin Yildirim; Ozisik, Secil; Demir, Leyla; Korkut, Meltem; Yilmaz, Nusret; Ozen, Samim; Akinci, Gulcin; Atik, Tahir; Calan, Mehmet; Secil, Mustafa; Comlekci, Abdurrahman; Demir, Tevfik

    2015-09-01

    Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes. In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Subjects were investigated for metabolic abnormalities. Fat distribution was assessed by whole body MRI. Hepatic steatosis was evaluated by ultrasound, MRI and MR spectroscopy. Patients with diabetes underwent a mix meal stimulated C-peptide/insulin test to investigate pancreatic beta cell functions. Leptin and adiponectin levels were measured. Fifteen individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia, 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Anti-GAD was negative in all APL patients with diabetes. APL patients with diabetes had lower leptin and adiponectin levels compared to patients with type 2 diabetes and healthy controls. However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. The mix meal test suggested that APL patients with diabetes had a significant amount of functional pancreatic beta cells, and their diabetes was apparently associated with insulin resistance. Our results show that APL is associated with increased risk for developing metabolic abnormalities. We suggest that close long-term follow-up is required to identify and manage metabolic abnormalities in APL. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography

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    Malinger, G. [Fetal Neurology Clinic, Department of Obstetrics and Gynecology, Genetics Institute and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Holon 58100 (Israel)]. E-mail: malinger@nashim.net; Lev, D. [Fetal Neurology Clinic, Department of Obstetrics and Gynecology, Genetics Institute and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Holon 58100 (Israel); Lerman-Sagie, T. [Fetal Neurology Clinic, Department of Obstetrics and Gynecology, Genetics Institute and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Holon 58100 (Israel)

    2006-02-15

    The multiplanar neurosonographic examination of the fetus enables superb visualization of brain anatomy during pregnancy. The examination may be performed using a transvaginal or a transfundal approach and it is indicated in patients at high risk for CNS anomalies or in those with a suspicious finding during a routine examination. The purpose of this paper is to present a description of the normal brain and of abnormal findings usually diagnosed late in pregnancy, including malformations of cortical development, infratentorial anomalies, and prenatal insults.

  5. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    Science.gov (United States)

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  6. Fetal alcohol exposure leads to abnormal olfactory bulb development and impaired odor discrimination in adult mice.

    Science.gov (United States)

    Akers, Katherine G; Kushner, Steven A; Leslie, Ana T; Clarke, Laura; van der Kooy, Derek; Lerch, Jason P; Frankland, Paul W

    2011-07-07

    Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities and specific behavioral alterations during adulthood. Mice drank a 10% ethanol solution throughout pregnancy. When fetal alcohol-exposed offspring reached adulthood, we used high resolution MRI to conduct a brain-wide screen for structural changes and found that the largest reduction in volume occurred in the olfactory bulbs. Next, we tested adult mice in an associative olfactory task and found that fetal alcohol exposure impaired discrimination between similar odors but left odor memory intact. Finally, we investigated olfactory bulb neurogenesis as a potential mechanism by performing an in vitro neurosphere assay, in vivo labeling of new cells using BrdU, and in vivo labeling of new cells using a transgenic reporter system. We found that fetal alcohol exposure decreased the number of neural precursor cells in the subependymal zone and the number of new cells in the olfactory bulbs during the first few postnatal weeks. Using a combination of techniques, including structural brain imaging, in vitro and in vivo cell detection methods, and behavioral testing, we found that fetal alcohol exposure results in smaller olfactory bulbs and impairments in odor discrimination that persist into adulthood. Furthermore, we found that these abnormalities in olfactory bulb structure and function may arise from deficits in the generation of new olfactory bulb neurons during early postnatal development.

  7. Age and Pattern of Pap Smear Abnormalities: Implications for Cervical Cancer Control in a Developing Country.

    Science.gov (United States)

    Akinfolarin, Adepiti Clement; Olusegun, Ajenifuja Kayode; Omoladun, Okunola; Omoniyi-Esan, G O; Onwundiegu, Uche

    2017-01-01

    To characterize the age and pattern of Pap smear abnormalities in a major teaching hospital in Southwestern Nigeria. This is a review of medical records of patients that came for cervical cancer screening. The Pap smear results of women between May 2013 and April 2015 were retrieved. A total of 2048 Pap smear results were retrieved during the study period and analyzed with Statistical Package for Social Sciences (SPSS) version 20. A total of 252 (12.3%) samples were excluded from the analysis. The mean age of the women was 45.77 ± 9.9 years and the mode was 50 years. Normal Pap smear result was reported in 728 (40.6%) women. Only 20 women has had more than one more than one Pap smear done. The most common abnormality was inflammatory smear result as this was reported in 613 (29.9%) women. Atypical squamous cell of undetermined significance, low-grade squamous intraepithelial lesion (LGSIL), and high-grade squamous intraepithelial lesion (HGSIL) were reported in 117 (5.7%), 209 (10.2%), and 111 (5.4%) women, respectively. Atypical glandular cell and squamous cell carcinoma were reported in 12 (6.0%) and 3 (1.0%), respectively. There is a high incidence of abnormal Pap smear in this environment and women start cervical cancer screening late in their reproductive life, past the age at which cervical premalignant lesions peak. This may be a contributing factor to the high burden of cervical cancer in developing countries.

  8. A mechanical model predicts morphological abnormalities in the developing human brain

    Science.gov (United States)

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-07-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.

  9. Fetal alcohol exposure leads to abnormal olfactory bulb development and impaired odor discrimination in adult mice

    NARCIS (Netherlands)

    K.G. Akers (Katherine); S.A. Kushner (Steven); A.T. Leslie (Ana); L. Clarke (Laura); D. van der Kooy (Derek); J.P. Lerch (Jason); P.W. Frankland (Paul)

    2011-01-01

    textabstractBackground: Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities and specific

  10. Quadrantal macular retinal thickness changes in strabismus subjects with abnormal binocular vision development.

    Science.gov (United States)

    Oka, Mayumi; Yamashita, Tsutomu; Ono, Shizuka; Kubo, Ikumi; Tabuchi, Akio

    2013-03-01

    To investigate retinal morphological changes in strabismus patients with abnormal binocular vision development by comparing differences in quadrantal macular retinal thickness. Six strabismus patients (6 dominant and 5 non-dominant eyes) with abnormal binocular vision (mean age 22 years), and 11 control subjects (11 dominant and 11 non-dominant eyes) (mean age 21 years) were enrolled. Macular retinal thickness measurements were performed by optical coherence tomography, with total macular retinal (TMR) and ganglion cell complex (GCC) thicknesses measured in 3- and 6-mm regions in each quadrant. Measurement values were then used to determine quadrant ratios. Compared to the dominant eyes of the controls, the superior/inferior (S/I) ratio of the TMR thickness and GCC thickness in the 3-mm region was significantly lower in the dominant eyes of the strabismus group (P binocular vision development exhibited thinner superior temporal GCC thicknesses in the 3-mm region. Retinal ganglion cells in this region might be affected by efferent neural degeneration that originates in the visual pathway responsible for adaptations to the visual experience.

  11. Latrunculin A treatment prevents abnormal chromosome segregation for successful development of cloned embryos.

    Directory of Open Access Journals (Sweden)

    Yukari Terashita

    Full Text Available Somatic cell nuclear transfer to an enucleated oocyte is used for reprogramming somatic cells with the aim of achieving totipotency, but most cloned embryos die in the uterus after transfer. While modifying epigenetic states of cloned embryos can improve their development, the production rate of cloned embryos can also be enhanced by changing other factors. It has already been shown that abnormal chromosome segregation (ACS is a major cause of the developmental failure of cloned embryos and that Latrunculin A (LatA, an actin polymerization inhibitor, improves F-actin formation and birth rate of cloned embryos. Since F-actin is important for chromosome congression in embryos, here we examined the relation between ACS and F-actin in cloned embryos. Using LatA treatment, the occurrence of ACS decreased significantly whereas cloned embryo-specific epigenetic abnormalities such as dimethylation of histone H3 at lysine 9 (H3K9me2 could not be corrected. In contrast, when H3K9me2 was normalized using the G9a histone methyltransferase inhibitor BIX-01294, the Magea2 gene-essential for normal development but never before expressed in cloned embryos-was expressed. However, this did not increase the cloning success rate. Thus, non-epigenetic factors also play an important role in determining the efficiency of mouse cloning.

  12. Fetal alcohol exposure leads to abnormal olfactory bulb development and impaired odor discrimination in adult mice

    Directory of Open Access Journals (Sweden)

    Akers Katherine G

    2011-07-01

    Full Text Available Abstract Background Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities and specific behavioral alterations during adulthood. Results Mice drank a 10% ethanol solution throughout pregnancy. When fetal alcohol-exposed offspring reached adulthood, we used high resolution MRI to conduct a brain-wide screen for structural changes and found that the largest reduction in volume occurred in the olfactory bulbs. Next, we tested adult mice in an associative olfactory task and found that fetal alcohol exposure impaired discrimination between similar odors but left odor memory intact. Finally, we investigated olfactory bulb neurogenesis as a potential mechanism by performing an in vitro neurosphere assay, in vivo labeling of new cells using BrdU, and in vivo labeling of new cells using a transgenic reporter system. We found that fetal alcohol exposure decreased the number of neural precursor cells in the subependymal zone and the number of new cells in the olfactory bulbs during the first few postnatal weeks. Conclusions Using a combination of techniques, including structural brain imaging, in vitro and in vivo cell detection methods, and behavioral testing, we found that fetal alcohol exposure results in smaller olfactory bulbs and impairments in odor discrimination that persist into adulthood. Furthermore, we found that these abnormalities in olfactory bulb structure and function may arise from deficits in the generation of new olfactory bulb neurons during early postnatal development.

  13. Age and pattern of Pap smear abnormalities: Implications for cervical cancer control in a developing country

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    Adepiti Clement Akinfolarin

    2017-01-01

    Full Text Available Aim: To characterize the age and pattern of Pap smear abnormalities in a major teaching hospital in Southwestern Nigeria. Design: This is a review of medical records of patients that came for cervical cancer screening. Materials and Methods: The Pap smear results of women between May 2013 and April 2015 were retrieved. A total of 2048 Pap smear results were retrieved during the study period and analyzed with Statistical Package for Social Sciences (SPSS version 20. A total of 252 (12.3% samples were excluded from the analysis. Results: The mean age of the women was 45.77 ± 9.9 years and the mode was 50 years. Normal Pap smear result was reported in 728 (40.6% women. Only 20 women has had more than one more than one Pap smear done. The most common abnormality was inflammatory smear result as this was reported in 613 (29.9% women. Atypical squamous cell of undetermined significance, low-grade squamous intraepithelial lesion (LGSIL, and high-grade squamous intraepithelial lesion (HGSIL were reported in 117 (5.7%, 209 (10.2%, and 111 (5.4% women, respectively. Atypical glandular cell and squamous cell carcinoma were reported in 12 (6.0% and 3 (1.0%, respectively. Conclusion: There is a high incidence of abnormal Pap smear in this environment and women start cervical cancer screening late in their reproductive life, past the age at which cervical premalignant lesions peak. This may be a contributing factor to the high burden of cervical cancer in developing countries.

  14. Selenoprotein N deficiency in mice is associated with abnormal lung development

    Science.gov (United States)

    Moghadaszadeh, Behzad; Rider, Branden E.; Lawlor, Michael W.; Childers, Martin K.; Grange, Robert W.; Gupta, Kushagra; Boukedes, Steve S.; Owen, Caroline A.; Beggs, Alan H.

    2013-01-01

    Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency. As with other members of the selenoprotein family, selenoprotein N incorporates selenium in the form of selenocysteine (Sec). Most selenoproteins that have been functionally characterized are involved in oxidation-reduction (redox) reactions, with the Sec residue located at their catalytic site. To model SEPN1-RM, we generated a Sepn1-knockout (Sepn1−/−) mouse line. Homozygous Sepn1−/− mice are fertile, and their weight and lifespan are comparable to wild-type (WT) animals. Under baseline conditions, the muscle histology of Sepn1−/− mice remains normal, but subtle core lesions could be detected in skeletal muscle after inducing oxidative stress. Ryanodine receptor (RyR) calcium release channels showed lower sensitivity to caffeine in SepN deficient myofibers, suggesting a possible role of SepN in RyR regulation. SepN deficiency also leads to abnormal lung development characterized by enlarged alveoli, which is associated with decreased tissue elastance and increased quasi-static compliance of Sepn1−/− lungs. This finding raises the possibility that the respiratory syndrome observed in patients with SEPN1 mutations may have a primary pulmonary component in addition to the weakness of respiratory muscles.—Moghadaszadeh, B., Rider B. E., Lawlor, M. W., Childers, M. K., Grange, R. W., Gupta, K., Boukedes, S. S., Owen, C. A., Beggs, A. H. Selenoprotein N deficiency in mice is associated with abnormal lung development. PMID:23325319

  15. Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

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    Kristie Lee

    Full Text Available Congenital hydrocephalus (CH is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF, a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.

  16. Xenopus embryos lacking specific isoforms of the corepressor SMRT develop abnormal heads.

    Science.gov (United States)

    Malartre, Marianne; Short, Stephen; Sharpe, Colin

    2006-04-15

    The corepressor SMRT acts on a range of transcription factors, including the retinoid and thyroid hormone nuclear receptors. The carboxy-terminal region of SMRT contains CoRNR box motifs that mediate these interactions. We have shown, in Xenopus, that SMRT can exist as isoforms containing either two or three CoRNR boxes depending on the alternative splicing of exon 37b. The number of SMRT transcript isoforms expressed increases during development until all sixteen possible isoforms are identified in the swimming tadpole. To eliminate specific SMRT isoforms, we have developed a process that uses an antisense morpholino oligonucleotide in Xenopus to dictate the outcome of alternative splicing at a defined exon and used this to inhibit the formation of transcripts containing exon 37b. These embryos are therefore limited to the expression of SMRT isoforms that contain two rather than three CoRNR boxes. Analysis of responsive genes in these embryos shows that targets of thyroid hormone, but not retinoid signaling are affected by the elimination of exon 37b. Morpholino-injected embryos have swimming abnormalities and develop altered head morphology, an expanded olfactory epithelium and disorganized peripheral axons. These experiments indicate a critical role for the alternative splicing of SMRT in development.

  17. Rice ORMDL controls sphingolipid homeostasis affecting fertility resulting from abnormal pollen development.

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    Chutharat Chueasiri

    Full Text Available The orosomucoids (ORM are ER-resisdent polypeptides encoded by ORM and ORMDL (ORM-like genes. In humans, ORMDL3 was reported as genetic risk factor associated to asthma. In yeast, ORM proteins act as negative regulators of sphingolipid synthesis. Sphingolipids are important molecules regulating several processes including stress responses and apoptosis. However, the function of ORM/ORMDL genes in plants has not yet been reported. Previously, we found that temperature sensitive genetic male sterility (TGMS rice lines controlled by tms2 contain a deletion of about 70 kb in chromosome 7. We identified four genes expressed in panicles, including an ORMDL ortholog, as candidates for tms2. In this report, we quantified expression of the only two candidate genes normally expressed in anthers of wild type plants grown in controlled growth rooms for fertile and sterile conditions. We found that only the ORMDL gene (LOC_Os07g26940 showed differential expression under these conditions. To better understand the function of rice ORMDL genes, we generated RNAi transgenic rice plants suppressing either LOC_Os07g26940, or all three ORMDL genes present in rice. We found that the RNAi transgenic plants with low expression of either LOC_Os07g26940 alone or all three ORMDL genes were sterile, having abnormal pollen morphology and staining. In addition, we found that both sphingolipid metabolism and expression of genes involved in sphingolipid synthesis were perturbed in the tms2 mutant, analogous to the role of ORMs in yeast. Our results indicated that plant ORMDL proteins influence sphingolipid homeostasis, and deletion of this gene affected fertility resulting from abnormal pollen development.

  18. Abnormal development of tapetum and microspores induced by chemical hybridization agent SQ-1 in wheat.

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    Shuping Wang

    Full Text Available Chemical hybridization agent (CHA-induced male sterility is an important tool in crop heterosis. To demonstrate that CHA-SQ-1-induced male sterility is associated with abnormal tapetal and microspore development, the cytology of CHA-SQ-1-treated plant anthers at various developmental stages was studied by light microscopy, scanning and transmission electron microscopy, in situ terminal deoxynucleotidyl transferasemediated dUTP nick end-labelling (TUNEL assay and DAPI staining. The results indicated that the SQ-1-treated plants underwent premature tapetal programmed cell death (PCD, which was initiated at the early-uninucleate stage of microspore development and continued until the tapetal cells were completely degraded; the process of microspore development was then blocked. Microspores with low-viability (fluorescein diacetate staining were aborted. The study suggests that premature tapetal PCD is the main cause of pollen abortion. Furthermore, it determines the starting period and a key factor in CHA-SQ-1-induced male sterility at the cell level, and provides cytological evidence to further study the mechanism between PCD and male sterility.

  19. Development of spent fuel remote handling technology - Kinematic analysis of bilateral arms for abnormal spent fuels

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Kyu Won; Yoo, Ju Sang; Kim, Jong Yoon [Chungbuk National University, Chongju (Korea)

    2000-03-01

    In the project of 'Development of Spent Fuel Remote Handling Technology', Preprocessing technique, mechanism and teleoperation technique are being developed. One of the mechanisms is a device for disassembling of the spent fuel bundle. However, there may be abnormal fuel bar among the fuel bundle, In this case the unpacking task will be difficult and dangerous. So, in that case, a force reflected teleoperation manipulator is desirable. The system is composed of a anthropomorphic input device at control site, power manipulator at remote site and control system. In this research, the forward and inverse kinematic equations of input device and manipulators has been solved, respectively. In addition, the mapping algorithm is proposed and shown using computer simulation. The reaction force of the telemanipulator with the environmental object is reflected through control system. The reaction force is decomposed into joint torque of the input device based on the jacobian equation. The obtained theoretical relations are verified through computer simulation and they will be used effectively in the spent fuel remote handling technology. 6 refs., 26 figs., 7 tabs. (Author)

  20. Over-expression of thymosin beta 4 promotes abnormal tooth development and stimulation of hair growth.

    Science.gov (United States)

    Cha, Hee-Jae; Philp, Deborah; Lee, Soo-Hyun; Moon, Hye-Sung; Kleinman, Hynda K; Nakamura, Takashi

    2010-01-01

    Thymosin beta 4 has multi-functional roles in cell physiology. It accelerates wound healing, hair growth and angiogenesis, and increases laminin-5 expression in corneal epithelium. Furthermore, thymosin beta 4 stimulates tumor growth and metastasis by induction of cell migration and vascular endothelial growth factor-mediated angiogenesis. Using a construct on the skin-specific keratin-5 promoter, we have developed thymosin beta 4 over-expressing transgenic mice to further study its functional roles. Thymosin beta 4 in adult skin and in embryonic stages of the transgenic mouse was analyzed by both Western blot and immunohistochemistry. The over-expression of thymosin beta 4 was observed especially around hair follicles and in the teeth in the transgenic mice. We examined the phenotype of the thymosin beta 4 over-expressing mice. Hair growth was accelerated. In addition, the transgenic mice had abnormally-shaped white teeth and dull incisors. We found that the expression of laminin-5 was up-regulated in the skin of the transgenic mice. We conclude that thymosin beta 4 has an important physiological role in hair growth and in tooth development.

  1. Ultrastructural and cellular basis for the development of abnormal myocardial mechanics during the transition from hypertension to heart failure.

    Science.gov (United States)

    Shah, Sanjiv J; Aistrup, Gary L; Gupta, Deepak K; O'Toole, Matthew J; Nahhas, Amanda F; Schuster, Daniel; Chirayil, Nimi; Bassi, Nikhil; Ramakrishna, Satvik; Beussink, Lauren; Misener, Sol; Kane, Bonnie; Wang, David; Randolph, Blake; Ito, Aiko; Wu, Megan; Akintilo, Lisa; Mongkolrattanothai, Thitipong; Reddy, Mahendra; Kumar, Manvinder; Arora, Rishi; Ng, Jason; Wasserstrom, J Andrew

    2014-01-01

    Although the development of abnormal myocardial mechanics represents a key step during the transition from hypertension to overt heart failure (HF), the underlying ultrastructural and cellular basis of abnormal myocardial mechanics remains unclear. We therefore investigated how changes in transverse (T)-tubule organization and the resulting altered intracellular Ca(2+) cycling in large cell populations underlie the development of abnormal myocardial mechanics in a model of chronic hypertension. Hearts from spontaneously hypertensive rats (SHRs; n = 72) were studied at different ages and stages of hypertensive heart disease and early HF and were compared with age-matched control (Wistar-Kyoto) rats (n = 34). Echocardiography, including tissue Doppler and speckle-tracking analysis, was performed just before euthanization, after which T-tubule organization and Ca(2+) transients were studied using confocal microscopy. In SHRs, abnormalities in myocardial mechanics occurred early in response to hypertension, before the development of overt systolic dysfunction and HF. Reduced longitudinal, circumferential, and radial strain as well as reduced tissue Doppler early diastolic tissue velocities occurred in concert with T-tubule disorganization and impaired Ca(2+) cycling, all of which preceded the development of cardiac fibrosis. The time to peak of intracellular Ca(2+) transients was slowed due to T-tubule disruption, providing a link between declining cell ultrastructure and abnormal myocardial mechanics. In conclusion, subclinical abnormalities in myocardial mechanics occur early in response to hypertension and coincide with the development of T-tubule disorganization and impaired intracellular Ca(2+) cycling. These changes occur before the development of significant cardiac fibrosis and precede the development of overt cardiac dysfunction and HF.

  2. Abnormal Sperm Development in pcd3J-/- Mice: the Importance of Agtpbp1 in Spermatogenesis

    Science.gov (United States)

    Kim, Nameun; Xiao, Rui; Choi, Hojun; Kim, Jin-Hoi; Sang-Jun, Uhm; Chankyu, Park

    2011-01-01

    Homozygous Purkinje cell degeneration (pcd) mutant males exhibit abnormal sperm development. Microscopic examination of the testes from pcd3J-/- mice at postnatal days 12, 15, 18 and 60 revealed histological differences, in comparison to wild-type mice, which were evident by day 18. Greatly reduced numbers of spermatocytes and spermatids were found in the adult testes, and apoptotic cells were identified among the differentiating germ cells after day 15. Our immunohistological analysis using an antihuman AGTPBP1 antibody showed that AGTPBP1 was expressed in spermatogenic cells between late stage primary spermatocytes and round spermatids. A global gene expression analysis from the testes of pcd3J-/- mice showed that expression of cyclin B3 and de-ubiquitinating enzymes USP2 and USP9y was altered by >1.5-fold compared to the expression levels in the wild-type. Our results suggest that the pcd mutant mice have defects in spermatogenesis that begin with the pachytene spermatocyte stage and continue through subsequent stages. Thus, Agtpbp1, the gene responsible for the pcd phenotype, plays an important role in spermatogenesis and is important for survival of germ cells at spermatocytes stage onward. PMID:21110128

  3. Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome.

    Science.gov (United States)

    Bush, Douglas; Abman, Steven H; Galambos, Csaba

    2017-01-01

    To determine the frequency of histologic features of impaired lung vascular and alveolar development and to identify the presence of intrapulmonary bronchopulmonary anastomoses (IBA) in infants and children who died with Down syndrome. A retrospective review of autopsy reports and lung histology from 13 children with Down syndrome (ages: 0-8 years) was performed. Histologic features of abnormal lung development were identified and semiquantified, including the presence of IBA. Three-dimensional reconstructions of IBA were also performed. Comparisons were made with 4 age-matched patients without Down syndrome with congenital heart defects who underwent autopsies during this time period. Of the 13 subjects with Down syndrome, 69% died from cardiac events, 77% had a congenital heart defect, and 46% had a clinical diagnosis of pulmonary hypertension. Lung histology from all subjects with Down syndrome demonstrated alveolar simplification, and 92% had signs of persistence of a double capillary network in the distal lung. The lungs from the subjects with Down syndrome frequently had features of pulmonary arterial hypertensive remodeling (85%), and prominent bronchial vessels and IBA were observed in all subjects with Down syndrome. These features were more frequent in subjects with Down syndrome compared with control subjects. Children with Down syndrome who died of cardiopulmonary diseases often have histologic evidence of impaired lung alveolar and vascular development, including the presence of prominent IBA and pulmonary hypertension. We speculate that children with Down syndrome are at risk for reduced lung surface area and recruitment of IBA, which may worsen gas exchange in subjects with Down syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Neural Progenitor Cells Rptor Ablation Impairs Development but Benefits to Seizure-Induced Behavioral Abnormalities.

    Science.gov (United States)

    Chen, Ling-Lin; Wu, Mei-Ling; Zhu, Feng; Kai, Jie-Jing; Dong, Jing-Yin; Wu, Xi-Mei; Zeng, Ling-Hui

    2016-12-01

    Previous study suggests that mTOR signaling pathway may play an important role in epileptogenesis. The present work was designed to explore the contribution of raptor protein to the development of epilepsy and comorbidities. Mice with conditional knockout of raptor protein were generated by cross-bred Rptor flox/flox mice with nestin-CRE mice. The expression of raptor protein was analyzed by Western blotting in brain tissue samples. Neuronal death and mossy fiber sprouting were detected by FJB staining and Timm staining, respectively. Spontaneous seizures were recorded by EEG-video system. Morris water maze, open field test, and excitability test were used to study the behaviors of Rptor CKO mice. As the consequence of deleting Rptor, downstream proteins of raptor in mTORC1 signaling were partly blocked. Rptor CKO mice exhibited decrease in body and brain weight under 7 weeks old and accordingly, cortical layer thickness. After kainic acid (KA)-induced status epilepticus, overactivation of mTORC1 signaling was markedly reversed in Rptor CKO mice. Although low frequency of spontaneous seizure and seldom neuronal cell death were observed in both Rptor CKO and control littermates, KA seizure-induced mossy fiber spouting were attenuated in Rptor CKO mice. Additionally, cognitive-deficit and anxiety-like behavior after KA-induced seizures were partly reversed in Rptor CKO mice. Loss of the Rptor gene in mice neural progenitor cells affects normal development in young age and may contribute to alleviate KA seizure-induced behavioral abnormalities, suggesting that raptor protein plays an important role in seizure comorbidities. © 2016 John Wiley & Sons Ltd.

  5. Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice.

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    Sheri L Bonar

    Full Text Available The NLRP3 inflammasome complex is responsible for maturation of the pro-inflammatory cytokine, IL-1β. Mutations in NLRP3 are responsible for the cryopyrinopathies, a spectrum of conditions including neonatal-onset multisystem inflammatory disease (NOMID. While excessive production of IL-1β and systemic inflammation are common to all cryopyrinopathy disorders, skeletal abnormalities, prominently in the knees, and low bone mass are unique features of patients with NOMID. To gain insights into the mechanisms underlying skeletal abnormalities in NOMID, we generated knock-in mice globally expressing the D301N NLRP3 mutation (ortholog of D303N in human NLRP3. NOMID mice exhibit neutrophilia in blood and many tissues, including knee joints, and high levels of serum inflammatory mediators. They also exhibit growth retardation and severe postnatal osteopenia stemming at least in part from abnormally accelerated bone resorption, attended by increased osteoclastogenesis. Histologic analysis of knee joints revealed abnormal growth plates, with loss of chondrocytes and growth arrest in the central region of the epiphyses. Most strikingly, a tissue "spike" was observed in the mid-region of the growth plate in the long bones of all NOMID mice that may be the precursor to more severe deformations analogous to those observed in NOMID patients. These findings provide direct evidence linking a NOMID-associated NLRP3-activating mutation to abnormalities of postnatal skeletal growth and bone remodeling.

  6. The role of the second heart field in pulmonary vein development : new insights in the origin of clinical abnormalities

    NARCIS (Netherlands)

    Douglas, Yvonne Louise

    2010-01-01

    In this thesis we describe normal and abnormal pulmonary vein development in human and mouse hearts, and focus on the histo(patho)logy of the pulmonary venous and left atrial dorsal wall, in order to elucidate the role of the posterior heart field in the formation and differentiation of the

  7. Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest.

    Science.gov (United States)

    Kort, Daniel H; Chia, Gloryn; Treff, Nathan R; Tanaka, Akemi J; Xing, Tongji; Vensand, Lauren Bauer; Micucci, Stephanie; Prosser, Robert; Lobo, Roger A; Sauer, Mark V; Egli, Dieter

    2016-02-01

    What is the prevalence and developmental significance of morphologic nuclear abnormalities in human preimplantation embryos? Nuclear abnormalities are commonly found in human IVF embryos and are associated with DNA damage, aneuploidy, and decreased developmental potential. Early human embryonic development is complicated by genomic errors that occur after fertilization. The appearance of extra-nuclear DNA, which has been observed in IVF, may be a result of such errors. However, the mechanism by which abnormal nuclei form and the impact on DNA integrity and embryonic development is not understood. Cryopreserved human cleavage-stage embryos (n = 150) and cryopreserved blastocysts (n = 105) from clinical IVF cycles performed between 1997 and 2008 were donated for research. Fresh embryos (n = 60) of poor quality that were slated for discard were also used. Immunohistochemical, microscopic and cytogenetic analyses at different developmental stages and morphologic grades were performed. Embryos were fixed and stained for DNA, centromeres, mitotic activity and DNA damage and imaged using confocal microscopy. Rates of abnormal nuclear formation were compared between morphologically normal cleavage-stage embryos, morphologically normal blastocysts, and poor quality embryos. To control for clinical and IVF history of oocytes donors, and quality of frozen embryos within our sample, cleavage-stage embryos (n = 52) were thawed and fixed at different stages of development and then analyzed microscopically. Cleavage-stage embryos (n = 9) were thawed and all blastomeres (n = 62) were disaggregated, imaged and analyzed for karyotype. Correlations were made between microscopic and cytogenetic findings of individual blastomeres and whole embryos. The frequency of microscopic nuclear abnormalities was lower in blastocysts (5%; 177/3737 cells) than in cleavage-stage embryos (16%, 103/640 blastomeres, P < 0.05) and highest in arrested embryos (65%; 44/68 blastomeres, P < 0.05). DNA

  8. Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses.

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    Clara Mariquita Antoinette ten Broek

    Full Text Available Fluctuating asymmetry (FA, as an indirect measure of developmental instability (DI, has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development.

  9. Fetal magnetic resonance imaging (MRI): a tool for a better understanding of normal and abnormal brain development.

    Science.gov (United States)

    Saleem, Sahar N

    2013-07-01

    Knowledge of the anatomy of the developing fetal brain is essential to detect abnormalities and understand their pathogenesis. Capability of magnetic resonance imaging (MRI) to visualize the brain in utero and to differentiate between its various tissues makes fetal MRI a potential diagnostic and research tool for the developing brain. This article provides an approach to understand the normal and abnormal brain development through schematic interpretation of fetal brain MR images. MRI is a potential screening tool in the second trimester of pregnancies in fetuses at risk for brain anomalies and helps in describing new brain syndromes with in utero presentation. Accurate interpretation of fetal MRI can provide valuable information that helps genetic counseling, facilitates management decisions, and guides therapy. Fetal MRI can help in better understanding the pathogenesis of fetal brain malformations and can support research that could lead to disease-specific interventions.

  10. Impact of maternal metabolic abnormalities in pregnancy on human milk and subsequent infant metabolic development: methodology and design

    Directory of Open Access Journals (Sweden)

    Hamilton Jill K

    2010-10-01

    Full Text Available Abstract Background Childhood obesity is on the rise and is a major risk factor for type 2 diabetes later in life. Recent evidence indicates that abnormalities that increase risk for diabetes may be initiated early in infancy. Since the offspring of women with diabetes have an increased long-term risk for obesity and type 2 diabetes, the impact of maternal metabolic abnormalities on early nutrition and infant metabolic trajectories is of considerable interest. Human breast milk, the preferred food during infancy, contains not only nutrients but also an array of bioactive substances including metabolic hormones. Nonetheless, only a few studies have reported concentrations of metabolic hormones in human milk specifically from women with metabolic abnormalities. We aim to investigate the impact of maternal metabolic abnormalities in pregnancy on human milk hormones and subsequently on infant development over the first year of life. The objective of this report is to present the methodology and design of this study. Methods/Design The current investigation is a prospective study conducted within ongoing cohort studies of women and their offspring. Pregnant women attending outpatient obstetrics clinics in Toronto, Canada were recruited. Between April 2009 and July 2010, a total of 216 pregnant women underwent a baseline oral glucose tolerance test and provided medical and lifestyle history. Follow-up visits and telephone interviews are conducted and expected to be completed in October 2011. Upon delivery, infant birth anthropometry measurements and human breast milk samples are collected. At 3 and 12 months postpartum, mothers and infants are invited for follow-up assessments. Interim telephone interviews are conducted during the first year of offspring life to characterize infant feeding and supplementation behaviors. Discussion An improved understanding of the link between maternal metabolic abnormalities in pregnancy and early infant nutrition may

  11. Impact of maternal metabolic abnormalities in pregnancy on human milk and subsequent infant metabolic development: methodology and design.

    Science.gov (United States)

    Ley, Sylvia H; O'Connor, Deborah L; Retnakaran, Ravi; Hamilton, Jill K; Sermer, Mathew; Zinman, Bernard; Hanley, Anthony J

    2010-10-06

    Childhood obesity is on the rise and is a major risk factor for type 2 diabetes later in life. Recent evidence indicates that abnormalities that increase risk for diabetes may be initiated early in infancy. Since the offspring of women with diabetes have an increased long-term risk for obesity and type 2 diabetes, the impact of maternal metabolic abnormalities on early nutrition and infant metabolic trajectories is of considerable interest. Human breast milk, the preferred food during infancy, contains not only nutrients but also an array of bioactive substances including metabolic hormones. Nonetheless, only a few studies have reported concentrations of metabolic hormones in human milk specifically from women with metabolic abnormalities. We aim to investigate the impact of maternal metabolic abnormalities in pregnancy on human milk hormones and subsequently on infant development over the first year of life. The objective of this report is to present the methodology and design of this study. The current investigation is a prospective study conducted within ongoing cohort studies of women and their offspring. Pregnant women attending outpatient obstetrics clinics in Toronto, Canada were recruited. Between April 2009 and July 2010, a total of 216 pregnant women underwent a baseline oral glucose tolerance test and provided medical and lifestyle history. Follow-up visits and telephone interviews are conducted and expected to be completed in October 2011. Upon delivery, infant birth anthropometry measurements and human breast milk samples are collected. At 3 and 12 months postpartum, mothers and infants are invited for follow-up assessments. Interim telephone interviews are conducted during the first year of offspring life to characterize infant feeding and supplementation behaviors. An improved understanding of the link between maternal metabolic abnormalities in pregnancy and early infant nutrition may assist in the development of optimal prevention and intervention

  12. Mid-gestation brain Doppler and head biometry in fetuses with congenital heart disease predict abnormal brain development at birth.

    Science.gov (United States)

    Masoller, N; Sanz-CortéS, M; Crispi, F; Gómez, O; Bennasar, M; Egaña-Ugrinovic, G; Bargalló, N; Martínez, J M; Gratacós, E

    2016-01-01

    Fetuses with congenital heart disease (CHD) show evidence of abnormal brain development before birth, which is thought to contribute to adverse neurodevelopment during childhood. Our aim was to evaluate whether brain development in late pregnancy can be predicted by fetal brain Doppler, head biometry and the clinical form of CHD at the time of diagnosis. This was a prospective cohort study including 58 fetuses with CHD, diagnosed at 20-24 weeks' gestation, and 58 normal control fetuses. At the time of diagnosis, we recorded fetal head circumference (HC), biparietal diameter, middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and brain perfusion by fractional moving blood volume. We classified cases into one of two clinical types defined by the expected levels (high or low) of placental (well-oxygenated) blood perfusion, according to the anatomical defect. All fetuses underwent subsequent 3T-magnetic resonance imaging (MRI) at 36-38 weeks' gestation. Abnormal prenatal brain development was defined by a composite score including any of the following findings on MRI: total brain volume type of CHD was not. Fetal brain Doppler and head biometry at the time of CHD diagnosis are independent predictors of abnormal brain development at birth, and could be used in future algorithms to improve counseling and targeted interventions. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  13. Disruption of Ah Receptor Signaling during Mouse Development Leads to Abnormal Cardiac Structure and Function in the Adult.

    Directory of Open Access Journals (Sweden)

    Vinicius S Carreira

    Full Text Available The Developmental Origins of Health and Disease (DOHaD Theory proposes that the environment encountered during fetal life and infancy permanently shapes tissue physiology and homeostasis such that damage resulting from maternal stress, poor nutrition or exposure to environmental agents may be at the heart of adult onset disease. Interference with endogenous developmental functions of the aryl hydrocarbon receptor (AHR, either by gene ablation or by exposure in utero to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD, a potent AHR ligand, causes structural, molecular and functional cardiac abnormalities and altered heart physiology in mouse embryos. To test if embryonic effects progress into an adult phenotype, we investigated whether Ahr ablation or TCDD exposure in utero resulted in cardiac abnormalities in adult mice long after removal of the agent. Ten-months old adult Ahr-/- and in utero TCDD-exposed Ahr+/+ mice showed sexually dimorphic abnormal cardiovascular phenotypes characterized by echocardiographic findings of hypertrophy, ventricular dilation and increased heart weight, resting heart rate and systolic and mean blood pressure, and decreased exercise tolerance. Underlying these effects, genes in signaling networks related to cardiac hypertrophy and mitochondrial function were differentially expressed. Cardiac dysfunction in mouse embryos resulting from AHR signaling disruption seems to progress into abnormal cardiac structure and function that predispose adults to cardiac disease, but while embryonic dysfunction is equally robust in males and females, the adult abnormalities are more prevalent in females, with the highest severity in Ahr-/- females. The findings reported here underscore the conclusion that AHR signaling in the developing heart is one potential target of environmental factors associated with cardiovascular disease.

  14. Meiotic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  15. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

    Science.gov (United States)

    Li, Wen; Wang, Xianming; Fan, Wenxia; Zhao, Ping; Chan, Yau-Chi; Chen, Shen; Zhang, Shiqiang; Guo, Xiangpeng; Zhang, Ya; Li, Yanhua; Cai, Jinglei; Qin, Dajiang; Li, Xingyan; Yang, Jiayin; Peng, Tianran; Zychlinski, Daniela; Hoffmann, Dirk; Zhang, Ruosi; Deng, Kang; Ng, Kwong-Man; Menten, Bjorn; Zhong, Mei; Wu, Jiayan; Li, Zhiyuan; Chen, Yonglong; Schambach, Axel; Tse, Hung-Fat; Pei, Duanqing; Esteban, Miguel A

    2012-01-01

    Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation.

  16. The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

    Science.gov (United States)

    Satterthwaite, Theodore D; Connolly, John J; Ruparel, Kosha; Calkins, Monica E; Jackson, Chad; Elliott, Mark A; Roalf, David R; Ryan Hopsona, Karthik Prabhakaran; Behr, Meckenzie; Qiu, Haijun; Mentch, Frank D; Chiavacci, Rosetta; Sleiman, Patrick M A; Gur, Ruben C; Hakonarson, Hakon; Gur, Raquel E

    2016-01-01

    The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale study of child development that combines neuroimaging, diverse clinical and cognitive phenotypes, and genomics. Data from this rich resource is now publicly available through the Database of Genotypes and Phenotypes (dbGaP). Here we focus on the data from the PNC that is available through dbGaP and describe how users can access this data, which is evolving to be a significant resource for the broader neuroscience community for studies of normal and abnormal neurodevelopment. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Development of Abnormal Operating Strategies for Loss of Ultimate Heat Sink (LOUHS) at Shutdown Mode in Westinghouse Type Nuclear Power Plant

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Duk-Joo; Lee, Seung-Chan; Sung, Je-Joong; Ha, Sang Jun [KHNP CRI, Daejeon (Korea, Republic of); Hwang, Su-Hyun [FNC Tech. Co., Yongin (Korea, Republic of)

    2016-10-15

    Loss of all AC power is classified as one of multiple failure accident by regulatory guide of Korean accident management program. Therefore we need develop strategies for the abnormal operating procedure both of power operating and shutdown mode. This paper developed abnormal operating guideline for loss of all AC power by analysis of accident scenario in pressurized water reactor. This paper analyzed the extended SBO in shutdown operating mode and developed the operating strategy of the abnormal operation procedure. Operator action for the emergency are not required to take in 500 minutes and 60 minutes in intact and opened RCS state respectively.

  18. Congenital Abnormalities

    Science.gov (United States)

    ... Ribbon Commands Skip to main content Turn off Animations Turn on Animations Our Sponsors Log in | Register Menu Log in | ... course of action. Additional Information Your Family Health History & Genetics Detecting Genetic Abnormalities Prenatal Genetic Counseling Children ...

  19. Walking abnormalities

    Science.gov (United States)

    ... with short-term or long-term gait disorders. Therapy will reduce the risk of falls and other injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are ...

  20. Abnormalities of maternal thyroid function during pregnancy affect neuropsychological development of their children at 25-30 months.

    Science.gov (United States)

    Li, Yuanbin; Shan, Zhongyan; Teng, Weiping; Yu, Xiaohui; Li, Yushu; Fan, Chenling; Teng, Xiaochun; Guo, Rui; Wang, Hong; Li, Jia; Chen, Yanyan; Wang, Weiwei; Chawinga, Masauso; Zhang, Li; Yang, Liu; Zhao, Yaru; Hua, Tianyi

    2010-06-01

    To examine the relationship between specific thyroid abnormalities (subclinical hypothyroidism, hypothyroxinaemia or elevated thyroid peroxidase antibody titres) in women during pregnancy and the subsequent neuropsychological development of their offspring. Serum was collected from 1268 women at 16-20 weeks of gestation and thyroid stimulating hormone (TSH), total thyroxine (tT(4)), free thyroxine (fT(4)), and Thyroid peroxidase antibodies (TPOAb) levels were measured. Thyroid function reference ranges specific for pregnancy were used to screen for thyroid abnormalities. Patients with isolated subclinical hypothyroidism (18 cases), hypothyroxinaemia (19 cases), and those who were euthyroid patients with elevated titres of TPOAb (34 cases) were identified. One hundred and forty-two euthyroid and TPOAb-negative women matched for gestational age from the same cohort were selected as controls. Intellectual and motor development score evaluations were performed on the children from the pregnancies at 25-30 months of age. Children of women with subclinical hypothyroidism, hypothyroxinemia and elevated TPOAb titres had mean intelligence scores 8.88, 9.30 and 10.56 points lower than those of the control group (P = 0.008, P = 0.004 and P = 0.001, respectively); mean motor scores were 9.98, 7.57 and 9.03 points lower than those of the controls [P hypothyroidism, hypothyroxinaemia or euthyroidism with elevated TPOAb titres were all statistically significant predictors of lower motor and intellectual development at 25-30 months.

  1. Abnormal development of Dentalium due to the Amoco Cadiz oil spill

    NARCIS (Netherlands)

    Koster, A.SJ.; Biggelaar, J.A.M. van den

    A comparison was made between the development of Dentalium eggs, spawned by animals, collected before and after the Amoco Cadiz oil spill. Development of eggs from animals collected before the oil spill was significantly better than development of eggs from animals collected after the oil spill. It

  2. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

    Science.gov (United States)

    Downs, Louise M; Scott, Erin M; Cideciyan, Artur V; Iwabe, Simone; Dufour, Valerie; Gardiner, Kristin L; Genini, Sem; Marinho, Luis Felipe; Sumaroka, Alexander; Kosyk, Mychajlo S; Swider, Malgorzata; Aguirre, Geoffrey K; Jacobson, Samuel G; Beltran, William A; Aguirre, Gustavo D

    2016-10-01

    Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the progression of degeneration and the expression profiles of selected genes. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. In mutant dogs, rod and cone photoreceptors have a sensory cilium, but develop and function abnormally and then rapidly degenerate; L/M cones are more severely affected than S-cones. The lack of outer segments in mutant cones indicates a ciliary dysfunction. Genes expressed in mutant rod or both rod and cone photoreceptors show significant downregulation, while those expressed only in cones are unchanged. Many genes in cell-death and -survival pathways also are downregulated. The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures and no CNS abnormalities. Our results identify the critical time points in the pathogenesis of the photoreceptor disease, and bring us closer to defining a potential time window for testing novel therapies for translation to patients. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Expression of antisense SnRK1 protein kinase sequence causes abnormal pollen development and male sterility in transgenic barley.

    Science.gov (United States)

    Zhang, Y; Shewry, P R; Jones, H; Barcelo, P; Lazzeri, P A; Halford, N G

    2001-11-01

    A chimaeric gene was constructed comprising a wheat high molecular weight glutenin subunit gene promoter, a 304-bp sucrose non-fermenting-1-related (SnRK1) protein kinase sequence in the antisense orientation, and the cauliflower mosaic virus 35S RNA gene terminator. Transgenic barley plants containing the antisense SnRK1 chimaeric gene were produced by particle bombardment of barley immature embryos with the aim of obtaining plants expressing the antisense SnRK1 sequence in the seeds. Despite the fact that the promoter was expected to be active only in seeds, two independent transgenic lines were found to fail to transmit the transgene to the T1 generation. These T0 plants had matured and died before this was discovered, but subsequently four other independent transgenic lines were found to be affected in the same way. Cytological analysis of the pollen grains in these lines showed that about 50% were normal but the rest had arrested at the binucleate stage of development, were small, pear-shaped, contained little or no starch and were non-functional. The presence of antisense SnRK1 transcripts was detected in the anthers of the four lines analyzed and a ubiquitin promoter/UidA (Gus) gene, one of the marker genes codelivered with the antisense gene, was found to be expressed only in the abnormal pollen. Expression analyses confirmed that SnRK1 is expressed in barley anthers and that expression of one class of SnRK1 transcripts (SnRK1b) was reduced in the abnormal lines. All of the abnormal lines showed approximately 50% seed set, and none of the transgenes were detected in the T1 generation.

  4. White-matter tract abnormalities and antisocial behavior: A systematic review of diffusion tensor imaging studies across development

    Directory of Open Access Journals (Sweden)

    Rebecca Waller

    2017-01-01

    Full Text Available Antisocial behavior (AB, including aggression, violence, and theft, is thought be underpinned by abnormal functioning in networks of the brain critical to emotion processing, behavioral control, and reward-related learning. To better understand the abnormal functioning of these networks, research has begun to investigate the structural connections between brain regions implicated in AB using diffusion tensor imaging (DTI, which assesses white-matter tract microstructure. This systematic review integrates findings from 22 studies that examined the relationship between white-matter microstructure and AB across development. In contrast to a prior hypothesis that AB is associated with greater diffusivity specifically in the uncinate fasciculus, findings suggest that adult AB is associated with greater diffusivity across a range of white-matter tracts, including the uncinate fasciculus, inferior fronto-occipital fasciculus, cingulum, corticospinal tract, thalamic radiations, and corpus callosum. The pattern of findings among youth studies was inconclusive with both higher and lower diffusivity found across association, commissural, and projection and thalamic tracts.

  5. [Variant of abnormal mental development with early evidence of abstract thinking].

    Science.gov (United States)

    Bulakhova, L A

    1982-01-01

    The author presents the data of 4- to 25-year-long observation of a group of boys distinguished since the early age by a pronounced disproportionaity of the psychic development: an accelerated development of abstract-logical thinking with gross defects of sensuous perception, emotions, psychomotor functions, and adaptive behaviour as a whole. Despite the evolutional course of the state most of the patients appeared to be unable to independent social adaptation. The degree and structure of this disharmonic underdevelopment allow one to regard this pathology as a variant of nervous system dysontogenesis differing from, but bordering on such forms as Kanner's autism, Asperger's psychopathy, or mental retardation with partial giftedness.

  6. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning.

    Science.gov (United States)

    Baglio, Francesca; Cabinio, Monia; Ricci, Cristian; Baglio, Gisella; Lipari, Susanna; Griffanti, Ludovica; Preti, Maria G; Nemni, Raffaello; Clerici, Mario; Zanette, Michela; Blasi, Valeria

    2014-01-01

    Borderline intellectual functioning (BIF) is a condition characterized by an intelligence quotient (IQ) between 70 and 85. BIF children present with cognitive, motor, social, and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. The aim of this study was to investigate brain morphometry and its relation to IQ level in BIF children. Thirteen children with BIF and 14 age- and sex-matched typically developing (TD) children were enrolled. All children underwent a full IQ assessment (WISC-III scale) and a magnetic resonance (MR) examination including conventional sequences to assess brain structural abnormalities and high resolution 3D images for voxel-based morphometry analysis. To investigate to what extent the group influenced gray matter (GM) volumes, both univariate and multivariate generalized linear model analysis of variance were used, and the varimax factor analysis was used to explore variable correlations and clusters among subjects. Results showed that BIF children, compared to controls have increased regional GM volume in bilateral sensorimotor and right posterior temporal cortices and decreased GM volume in the right parahippocampal gyrus. GM volumes were highly correlated with IQ indices. The present work is a case study of a group of BIF children showing that BIF is associated with abnormal cortical development in brain areas that have a pivotal role in motor, learning, and behavioral processes. Our findings, although allowing for little generalization to the general population, contribute to the very limited knowledge in this field. Future longitudinal MR studies will be useful in verifying whether cortical features can be modified over time even in association with rehabilitative intervention.

  7. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning

    Directory of Open Access Journals (Sweden)

    Francesca eBaglio

    2014-10-01

    Full Text Available Borderline intellectual functioning (BIF is a condition characterized by an intelligence quotient (IQ between 70 and 85. BIF children present with cognitive, motor, social and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. Aim of this study was to investigate brain morphometry and its relation to IQ level in borderline intellectual functioning children.Thirteen children with BIF and 14 age- and sex-matched typically developing children were enrolled. All children underwent a full IQ assessment (WISC-III scale and a Magnetic Resonance (MR examination including conventional sequences to assess brain structural abnormalities and high resolution 3D images for voxel based morphometry (VBM analysis. To investigate to what extent the group influenced gray matter volumes, both univariate and multivariate generalized linear model analysis of variance were used, and the varimax factor analysis was used to explore variable correlations and clusters among subjects. Results showed that BIF children, compared to controls have increased regional gray matter volume in bilateral sensori-motor and right posterior temporal cortices and decreased gray matter volume in right parahippocampal gyrus. Gray matter volumes were highly correlated with IQ indices.Our is a case study of a group of BIF children showing that BIF is associated with abnormal cortical development in brain areas that have a pivotal role in motor, learning and behavioral processes. Our findings, although allowing for little generalization to general population, contributes to the very limited knowledge in this field. Future longitudinal MR studies will be useful in verifying whether cortical features can be modified over time even in association with rehabilitative intervention.

  8. Auditory Processing in Infancy: Do Early Abnormalities Predict Disorders of Language and Cognitive Development?

    Science.gov (United States)

    Guzzetta, Francesco; Conti, Guido; Mercuri, Eugenio

    2011-01-01

    Increasing attention has been devoted to the maturation of sensory processing in the first year of life. While the development of cortical visual function has been thoroughly studied, much less information is available on auditory processing and its early disorders. The aim of this paper is to provide an overview of the assessment techniques for…

  9. Development of "normal" dermatomes and somatotopic maps by "abnormal" populations of cutaneous neurons.

    Science.gov (United States)

    Wang, Guoying; Scott, Sheryl A

    2002-11-15

    During development, motor and sensory axons grow to peripheral targets with remarkable precision. Whereas much has been learned about the development of motoneuron connectivity, less is known about the regulation of cutaneous innervation. In adults, dorsal root ganglia (DRG) innervate characteristic skin regions, termed dermatomes, and their axons project somatotopically in the dorsal horn. Here, we have investigated whether cutaneous neurons are selectively matched with specific skin regions, and whether peripheral target skin influences the central connections of cutaneous neurons. To address these questions, we shifted limb buds rostrally in chick embryos prior to axon outgrowth, causing DRGs to innervate novel skin regions, and mapped the resulting dermatomes and central projections. Following limb shifts, cutaneous innervation arose from more rostral and from fewer DRGs than normal, but the overall dermatome pattern was preserved. Thus, DRGs parcel out innervation of skin in a consistent manner, with no indication of matching between skin and DRGs. Similarly, cutaneous nerves established a "normal" somatotopic map in the dorsal horn, but in more rostral segments than usual. Thus, the peripheral target skin may influence the pattern of CNS projections, but does not direct cutaneous axons to specific populations of neurons in the dorsal horn.

  10. Sperm morphological abnormalities visualised at high magnification predict embryonic development, from fertilisation to the blastocyst stage, in couples undergoing ICSI.

    Science.gov (United States)

    Setti, Amanda Souza; Braga, Daniela Paes de Almeida Ferreira; Vingris, Livia; Serzedello, Thais; Figueira, Rita de Cássia Sávio; Iaconelli, Assumpto; Borges, Edson

    2014-11-01

    To investigate the predictive value of the motile sperm organelle morphology examination (MSOME) on embryo morphology. The morphologies of 540 embryos obtained from 60 couples undergoing ICSI were evaluated from days 1 to 5 of development and were examined for associations with the percentages of morphologically normal paternal sperm and of the paternal sperm with large nuclear vacuoles (LNVs) as determined by MSOME. An increased percentage of LNV sperm was associated with increased odds of a zygote presenting with pronuclear abnormalities. It was also associated with decreased odds of (i) normal cleavage on days 2 and 3 of development, (ii) the presence of a high-quality embryo on day 3, (iii) the development of an embryo to the blastocyst stage, and (iv) an embryo possessing a normal trophectoderm and inner cell mass. The calculated areas under the curves differed for the embryos that did and did not develop to the blastocyst stage and for the high- and low-quality blastocysts. The optimal cut-off value for the percentage of LNV sperm that maximised proper blastocyst formation was ≤24.5 %, and the cut-off value that maximised blastocyst quality was ≤19.5 %. These results suggest a very early onset of paternal influences on embryo development. The evaluation of the incidence of vacuoles by MSOME may significantly improve upon the prognostic information provided by conventional semen analyses.

  11. Abnormal development of monoaminergic neurons is implicated in mood fluctuations and bipolar disorder.

    Science.gov (United States)

    Jukic, Marin M; Carrillo-Roa, Tania; Bar, Michal; Becker, Gal; Jovanovic, Vukasin M; Zega, Ksenija; Binder, Elisabeth B; Brodski, Claude

    2015-03-01

    Subtle mood fluctuations are normal emotional experiences, whereas drastic mood swings can be a manifestation of bipolar disorder (BPD). Despite their importance for normal and pathological behavior, the mechanisms underlying endogenous mood instability are largely unknown. During embryogenesis, the transcription factor Otx2 orchestrates the genetic networks directing the specification of dopaminergic (DA) and serotonergic (5-HT) neurons. Here we behaviorally phenotyped mouse mutants overexpressing Otx2 in the hindbrain, resulting in an increased number of DA neurons and a decreased number of 5-HT neurons in both developing and mature animals. Over the course of 1 month, control animals exhibited stable locomotor activity in their home cages, whereas mutants showed extended periods of elevated or decreased activity relative to their individual average. Additional behavioral paradigms, testing for manic- and depressive-like behavior, demonstrated that mutants showed an increase in intra-individual fluctuations in locomotor activity, habituation, risk-taking behavioral parameters, social interaction, and hedonic-like behavior. Olanzapine, lithium, and carbamazepine ameliorated the behavioral alterations of the mutants, as did the mixed serotonin receptor agonist quipazine and the specific 5-HT2C receptor agonist CP-809101. Testing the relevance of the genetic networks specifying monoaminergic neurons for BPD in humans, we applied an interval-based enrichment analysis tool for genome-wide association studies. We observed that the genes specifying DA and 5-HT neurons exhibit a significant level of aggregated association with BPD but not with schizophrenia or major depressive disorder. The results of our translational study suggest that aberrant development of monoaminergic neurons leads to mood fluctuations and may be associated with BPD.

  12. Modulation of serotonin transporter function during fetal development causes dilated heart cardiomyopathy and lifelong behavioral abnormalities.

    Directory of Open Access Journals (Sweden)

    Cornelle W Noorlander

    Full Text Available BACKGROUND: Women are at great risk for mood and anxiety disorders during their childbearing years and may become pregnant while taking antidepressant drugs. In the treatment of depression and anxiety disorders, selective serotonin reuptake inhibitors (SSRIs are the most frequently prescribed drugs, while it is largely unknown whether this medication affects the development of the central nervous system of the fetus. The possible effects are the product of placental transfer efficiency, time of administration and dose of the respective SSRI. METHODOLOGY/PRINCIPAL FINDINGS: In order to attain this information we have setup a study in which these parameters were measured and the consequences in terms of physiology and behavior are mapped. The placental transfer of fluoxetine and fluvoxamine, two commonly used SSRIs, was similar between mouse and human, indicating that the fetal exposure of these SSRIs in mice is comparable with the human situation. Fluvoxamine displayed a relatively low placental transfer, while fluoxetine showed a relatively high placental transfer. Using clinical doses of fluoxetine the mortality of the offspring increased dramatically, whereas the mortality was unaffected after fluvoxamine exposure. The majority of the fluoxetine-exposed offspring died postnatally of severe heart failure caused by dilated cardiomyopathy. Molecular analysis of fluoxetine-exposed offspring showed long-term alterations in serotonin transporter levels in the raphe nucleus. Furthermore, prenatal fluoxetine exposure resulted in depressive- and anxiety-related behavior in adult mice. In contrast, fluvoxamine-exposed mice did not show alterations in behavior and serotonin transporter levels. Decreasing the dose of fluoxetine resulted in higher survival rates and less dramatic effects on the long-term behavior in the offspring. CONCLUSIONS: These results indicate that prenatal fluoxetine exposure affects fetal development, resulting in cardiomyopathy

  13. Deficiency in DGCR8-dependent canonical microRNAs causes infertility due to multiple abnormalities during uterine development in mice.

    Science.gov (United States)

    Kim, Yeon Sun; Kim, Hye-Ryun; Kim, Hyongbum; Yang, Seung Chel; Park, Mira; Yoon, Jung Ah; Lim, Hyunjung J; Hong, Seok-Ho; DeMayo, Francesco J; Lydon, John P; Choi, Youngsok; Lee, Dong Ryul; Song, Haengseok

    2016-02-02

    DGCR8 is an RNA-binding protein that interacts with DROSHA to produce pre-microRNA in the nucleus, while DICER generates not only mature microRNA, but also endogenous small interfering RNAs in the cytoplasm. Here, we produced Dgcr8 conditional knock-out mice using progesterone receptor (PR)-Cre (Dgcr8(d/d)) and demonstrated that canonical microRNAs dependent on the DROSHA-DGCR8 complex are required for uterine development as well as female fertility in mice. Adult Dgcr8(d/d) females neither underwent regular reproductive cycles nor produced pups, whereas administration of exogenous gonadotropins induced normal ovulation in these mice. Interestingly, immune cells associated with acute inflammation aberrantly infiltrated into reproductive organs of pregnant Dgcr8(d/d) mice. Regarding uterine development, multiple uterine abnormalities were noticeable at 4 weeks of age when PR is significantly increased, and the severity of these deformities increased over time. Gland formation and myometrial layers were significantly reduced, and the stromal cell compartment did not expand and became atrophic during uterine development in these mice. These results were consistent with aberrantly reduced stromal cell proliferation and completely failed decidualization. Collectively, we suggest that DGCR8-dependent canonical microRNAs are essential for uterine development and physiological processes such as proper immune modulation, reproductive cycle, and steroid hormone responsiveness in mice.

  14. Silencing abnormal wing disc gene of the Asian citrus psyllid, Diaphorina citri disrupts adult wing development and increases nymph mortality.

    Directory of Open Access Journals (Sweden)

    Ibrahim El-Shesheny

    Full Text Available Huanglongbing (HLB causes considerable economic losses to citrus industries worldwide. Its management depends on controlling of the Asian citrus Psyllid (ACP, the vector of the bacterium, Candidatus Liberibacter asiaticus (CLas, the causal agent of HLB. Silencing genes by RNA interference (RNAi is a promising tool to explore gene functions as well as control pests. In the current study, abnormal wing disc (awd gene associated with wing development in insects is used to interfere with the flight of psyllids. Our study showed that transcription of awd is development-dependent and the highest level was found in the last instar (5(th of the nymphal stage. Micro-application (topical application of dsRNA to 5(th instar of nymphs caused significant nymphal mortality and adult wing-malformation. These adverse effects in ACP were positively correlated with the amounts of dsRNA used. A qRT-PCR analysis confirmed the dsRNA-mediated transcriptional down-regulation of the awd gene. Significant down-regulation was required to induce a wing-malformed phenotype. No effect was found when dsRNA-gfp was used, indicating the specific effect of dsRNA-awd. Our findings suggest a role for awd in ACP wing development and metamorphosis. awd could serve as a potential target for insect management either via direct application of dsRNA or by producing transgenic plants expressing dsRNA-awd. These strategies will help to mitigate HLB by controlling ACP.

  15. Electron beam irradiation induces abnormal development and the stabilization of p53 protein of American serpentine leafminer, Liriomyza trifolii (Burgess)

    Science.gov (United States)

    Koo, Hyun-Na; Yun, Seung-Hwan; Yoon, Changmann; Kim, Gil-Hah

    2012-01-01

    The American serpentine leafminer fly, Liriomyza trifolii (Burgess), is one of the most destructive polyphagous pests worldwide. In this study, we determined electron beam doses for inhibition of normal development of the leaf miner and investigated the effect of electron beam irradiation on DNA damage and p53 stability. Eggs (0-24 h old), larvae (2nd instar), puparia (0-24 h old after pupariation) and adults (24 h after emergence) were irradiated with increasing doses of electron beam irradiation (six levels between 30 and 200 Gy). At 150 Gy, the number of adults that developed from irradiated eggs, larvae and puparia was lower than in the untreated control. Fecundity and egg hatchability decreased depending on the doses applied. Reciprocal crosses between irradiated and unirradiated flies demonstrated that males were more radiotolerant than females. Adult longevity was not affected in all stages. The levels of DNA damage in L. trifolii adults were evaluated using the alkaline comet assay. Our results indicate that electron beam irradiation increased levels of DNA damage in a dose-dependent manner. Moreover, low doses of electron beam irradiation led to the rapid appearance of p53 protein within 6 h; however, it decreased after exposure to high doses (150 Gy and 200 Gy). These results suggest that electron beam irradiation induced not only abnormal development and reproduction but also p53 stability caused by DNA damage in L. trifolii. We conclude that a minimum dose of 150 Gy should be sufficient for female sterilization of L. trifolii.

  16. Sperm exposure to carbon-based nanomaterials causes abnormalities in early development of purple sea urchin (Paracentrotus lividus).

    Science.gov (United States)

    Mesarič, Tina; Sepčić, Kristina; Drobne, Damjana; Makovec, Darko; Faimali, Marco; Morgana, Silvia; Falugi, Carla; Gambardella, Chiara

    2015-06-01

    We examined egg fertilisation in purple sea urchin (Paracentrotus lividus) after sperm exposure to carbon-based nanomaterials, carbon black (CB) and graphene oxide (GO), from 0.0001 mg/L to 1.0mg/L. Gastrula stage embryos were investigated for acetylcholinesterase and propionylcholinesterase activities, and their morphological characteristics. Plutei were analysed for morphological abnormalities, with emphasis on skeletal rod formation. Egg fertilisation was significantly affected by CB, at all concentrations tested. Loss of cell adhesion at the gastrula surface was observed in eggs fertilised with sperm treated with CB. However, concentration-dependent morphological anomalies were observed in the gastrulae and plutei formed after sperm exposure to either CB or GO. The activities of both cholinesterases decreased in the gastrulae, although not in a concentration-dependent manner. These effects appear to arise from physical interactions between these carbon-based nanomaterials and the sperm, whereby nanomaterials attached to the sperm surface interfere with fertilisation, which leads to disturbances in the signalling pathways of early embryonic development. Reduced cholinesterase activity in gastrulae from eggs fertilised with nanomaterial-treated sperm confirms involvement of the cholinergic system in early sea urchin development, including skeletogenesis. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Blocking Endogenous Leukemia Inhibitory Factor During Placental Development in Mice Leads to Abnormal Placentation and Pregnancy Loss.

    Science.gov (United States)

    Winship, Amy; Correia, Jeanne; Krishnan, Tara; Menkhorst, Ellen; Cuman, Carly; Zhang, Jian-Guo; Nicola, Nicos A; Dimitriadis, Evdokia

    2015-08-14

    The placenta forms the interface between the maternal and fetal circulation and is critical for the establishment of a healthy pregnancy. Specialized trophoblast cells derived from the embryonic trophectoderm play a pivotal role in the establishment of the placenta. Leukemia inhibitory factor (LIF) is one of the predominant cytokines present in the placenta during early pregnancy. LIF has been shown to regulate trophoblast adhesion and invasion in vitro, however its precise role in vivo is unknown. We hypothesized that LIF would be required for normal placental development in mice. LIF and LIFRα were immunolocalized to placental trophoblasts and fetal vessels in mouse implantation sites during mid-gestation. Temporally blocking LIF action during specific periods of placental development via intraperitoneal administration of our specific LIFRα antagonist, PEGLA, resulted in abnormal placental trophoblast and vascular morphology and reduced activated STAT3 but not ERK. Numerous genes regulating angiogenesis and oxidative stress were altered in the placenta in response to LIF inhibition. Pregnancy viability was also significantly compromised in PEGLA treated mice. Our data suggest that LIF plays an important role in placentation in vivo and the maintenance of healthy pregnancy.

  18. Microcystin-LR induces abnormal root development by altering microtubule organization in tissue-cultured common reed (Phragmites australis) plantlets.

    Science.gov (United States)

    Máthé, Csaba; Beyer, Dániel; Erdodi, Ferenc; Serfozo, Zoltán; Székvölgyi, Lóránt; Vasas, Gábor; M-Hamvas, Márta; Jámbrik, Katalin; Gonda, Sándor; Kiss, Andrea; Szigeti, Zsuzsa M; Surányi, Gyula

    2009-05-05

    Microcystin-LR (MC-LR) is a heptapeptide cyanotoxin, known to be a potent inhibitor of type 1 and 2A protein phosphatases in eukaryotes. Our aim was to investigate the effect of MC-LR on the organization of microtubules and mitotic chromatin in relation to its possible effects on cell and whole organ morphology in roots of common reed (Phragmites australis). P. australis is a widespread freshwater and brackish water aquatic macrophyte, frequently exposed to phytotoxins in eutrophic waters. Reed plantlets regenerated from embryogenic calli were treated with 0.001-40 microg ml(-1) (0.001-40.2 microM) MC-LR for 2-20 days. At 0.5 microg ml(-1) MC-LR and at higher cyanotoxin concentrations, the inhibition of protein phosphatase activity by MC-LR induced alterations in reed root growth and morphology, including abnormal lateral root development and the radial swelling of cells in the elongation zone of primary and lateral roots. Both short-term (2-5 days) and long-term (10-20 days) of cyanotoxin treatment induced microtubule disruption in meristems and in the elongation and differentiation zones. Microtubule disruption was accompanied by root cell shape alteration. At concentrations of 0.5-5 microg ml(-1), MC-LR increased mitotic index at long-term exposure and induced the increase of the percentage of meristematic cells in prophase as well as telophase and cytokinesis of late mitosis. High cyanotoxin concentrations (10-40 microg ml(-1)) inhibited mitosis at as short as 2 days of exposure. The alteration of microtubule organization was observed in mitotic cells at all exposure periods studied, at cyanotoxin concentrations of 0.5-40 microg ml(-1). MC-LR induced spindle anomalies at the metaphase-anaphase transition, the formation of asymmetric anaphase spindles and abnormal sister chromatid separation. This paper reports for the first time that MC-LR induces cytoskeletal changes that lead to alterations of root architecture and development in common reed and generally, in

  19. Electron beam irradiation induces abnormal development and the stabilization of p53 protein of American serpentine leafminer, Liriomyza trifolii (Burgess)

    Energy Technology Data Exchange (ETDEWEB)

    Koo, Hyun-Na; Yun, Seung-Hwan; Yoon, Changmann [Department of Plant Medicine, College of Agriculture, Life and Environment Sciences, Chungbuk National University, Cheongju 361-763 (Korea, Republic of); Kim, Gil-Hah, E-mail: khkim@chungbuk.ac.kr [Department of Plant Medicine, College of Agriculture, Life and Environment Sciences, Chungbuk National University, Cheongju 361-763 (Korea, Republic of)

    2012-01-15

    The American serpentine leafminer fly, Liriomyza trifolii (Burgess), is one of the most destructive polyphagous pests worldwide. In this study, we determined electron beam doses for inhibition of normal development of the leaf miner and investigated the effect of electron beam irradiation on DNA damage and p53 stability. Eggs (0-24 h old), larvae (2nd instar), puparia (0-24 h old after pupariation) and adults (24 h after emergence) were irradiated with increasing doses of electron beam irradiation (six levels between 30 and 200 Gy). At 150 Gy, the number of adults that developed from irradiated eggs, larvae and puparia was lower than in the untreated control. Fecundity and egg hatchability decreased depending on the doses applied. Reciprocal crosses between irradiated and unirradiated flies demonstrated that males were more radiotolerant than females. Adult longevity was not affected in all stages. The levels of DNA damage in L. trifolii adults were evaluated using the alkaline comet assay. Our results indicate that electron beam irradiation increased levels of DNA damage in a dose-dependent manner. Moreover, low doses of electron beam irradiation led to the rapid appearance of p53 protein within 6 h; however, it decreased after exposure to high doses (150 Gy and 200 Gy). These results suggest that electron beam irradiation induced not only abnormal development and reproduction but also p53 stability caused by DNA damage in L. trifolii. We conclude that a minimum dose of 150 Gy should be sufficient for female sterilization of L. trifolii. - Highlights: > Electron beam irradiation inhibited normal development of the leaf miner. > Electron beam irradiation inhibited normal reproduction of the leaf miner. > Electron beam irradiation increased levels of DNA damage. > Electron beam irradiation induced p53 stability.

  20. Abnormal immune system development and function in schizophrenia helps reconcile diverse findings and suggests new treatment and prevention strategies.

    Science.gov (United States)

    Anders, Sherry; Kinney, Dennis K

    2015-08-18

    Extensive research implicates disturbed immune function and development in the etiology and pathology of schizophrenia. In addition to reviewing evidence for immunological factors in schizophrenia, this paper discusses how an emerging model of atypical immune function and development helps explain a wide variety of well-established - but puzzling - findings about schizophrenia. A number of theorists have presented hypotheses that early immune system programming, disrupted by pre- and perinatal adversity, often combines with abnormal brain development to produce schizophrenia. The present paper focuses on the hypothesis that disruption of early immune system development produces a latent immune vulnerability that manifests more fully after puberty, when changes in immune function and the thymus leave individuals more susceptible to infections and immune dysfunctions that contribute to schizophrenia. Complementing neurodevelopmental models, this hypothesis integrates findings on many contributing factors to schizophrenia, including prenatal adversity, genes, climate, migration, infections, and stress, among others. It helps explain, for example, why (a) schizophrenia onset is typically delayed until years after prenatal adversity, (b) individual risk factors alone often do not lead to schizophrenia, and (c) schizophrenia prevalence rates actually tend to be higher in economically advantaged countries. Here we discuss how the hypothesis explains 10 key findings, and suggests new, potentially highly cost-effective, strategies for treatment and prevention of schizophrenia. Moreover, while most human research linking immune factors to schizophrenia has been correlational, these strategies provide ethical ways to experimentally test in humans theories about immune function and schizophrenia. This article is part of a Special Issue entitled SI: Neuroimmunology in Health And Disease. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. Absence of PTHrP nuclear localization and carboxyl terminus sequences leads to abnormal brain development and function.

    Directory of Open Access Journals (Sweden)

    Zhen Gu

    Full Text Available We assessed whether the nuclear localization sequences (NLS and C terminus of parathyroid hormone-related protein (PTHrP play critical roles in brain development and function. We used histology, immunohistochemistry, histomorphometry, Western blots and electrophysiological recordings to compare the proliferation and differentiation of neural stem cells, neuronal hippocampal synaptic transmission, and brain phenotypes including shape and structures, in Pthrp knock-in mice, which express PTHrP (1-84, a truncated form of the protein that is missing the NLS and the C-terminal region of the protein, and their wild-type littermates. Results showed that Pthrp knock-in mice display abnormal brain shape and structures; decreased neural cell proliferative capacity and increased apoptosis associated with up-regulation of cyclin dependent kinase inhibitors p16, p21, p27 and p53 and down-regulation of the Bmi-1 oncogene; delayed neural cell differentiation; and impaired hippocampal synaptic transmission and plasticity. These findings provide in vivo experimental evidence that the NLS and C-terminus of PTHrP are essential not only for the regulation of neural cell proliferation and differentiation, but also for the maintenance of normal neuronal synaptic transmission and plasticity.

  2. Multiple Renal Cyst Development but Not Situs Abnormalities in Transgenic RNAi Mice against Inv::GFP Rescue Gene

    Science.gov (United States)

    Kamijho, Yuki; Shiozaki, Yayoi; Sakurai, Eiki; Hanaoka, Kazunori; Watanabe, Daisuke

    2014-01-01

    In this study we generated RNA interference (RNAi)-mediated gene knockdown transgenic mice (transgenic RNAi mice) against the functional Inv gene. Inv mutant mice show consistently reversed internal organs (situs inversus), multiple renal cysts and neonatal lethality. The Inv::GFP-rescue mice, which introduced the Inv::GFP fusion gene, can rescue inv mutant mice phenotypes. This indicates that the Inv::GFP gene is functional in vivo. To analyze the physiological functions of the Inv gene, and to demonstrate the availability of transgenic RNAi mice, we introduced a short hairpin RNA expression vector against GFP mRNA into Inv::GFP-rescue mice and analyzed the gene silencing effects and Inv functions by examining phenotypes. Transgenic RNAi mice with the Inv::GFP-rescue gene (Inv-KD mice) down-regulated Inv::GFP fusion protein and showed hypomorphic phenotypes of inv mutant mice, such as renal cyst development, but not situs abnormalities or postnatal lethality. This indicates that shRNAi-mediated gene silencing systems that target the tag sequence of the fusion gene work properly in vivo, and suggests that a relatively high level of Inv protein is required for kidney development in contrast to left/right axis determination. Inv::GFP protein was significantly down-regulated in the germ cells of Inv-KD mice testis compared with somatic cells, suggesting the existence of a testicular germ cell-specific enhanced RNAi system that regulates germ cell development. The Inv-KD mouse is useful for studying Inv gene functions in adult tissue that are unable to be analyzed in inv mutant mice showing postnatal lethality. In addition, the shRNA-based gene silencing system against the tag sequence of the fusion gene can be utilized as a new technique to regulate gene expression in either in vitro or in vivo experiments. PMID:24586938

  3. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic–neural development

    Science.gov (United States)

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-01-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith–Lemli–Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and

  4. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

    Science.gov (United States)

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-07-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes

  5. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.

    Science.gov (United States)

    Sgariglia, Federica; Candela, Maria Elena; Huegel, Julianne; Jacenko, Olena; Koyama, Eiki; Yamaguchi, Yu; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi

    2013-11-01

    Long bones are integral components of the limb skeleton. Recent studies have indicated that embryonic long bone development is altered by mutations in Ext genes and consequent heparan sulfate (HS) deficiency, possibly due to changes in activity and distribution of HS-binding/growth plate-associated signaling proteins. Here we asked whether Ext function is continuously required after birth to sustain growth plate function and long bone growth and organization. Compound transgenic Ext1(f/f);Col2CreERT mice were injected with tamoxifen at postnatal day 5 (P5) to ablate Ext1 in cartilage and monitored over time. The Ext1-deficient mice exhibited growth retardation already by 2weeks post-injection, as did their long bones. Mutant growth plates displayed a severe disorganization of chondrocyte columnar organization, a shortened hypertrophic zone with low expression of collagen X and MMP-13, and reduced primary spongiosa accompanied, however, by increased numbers of TRAP-positive osteoclasts at the chondro-osseous border. The mutant epiphyses were abnormal as well. Formation of a secondary ossification center was significantly delayed but interestingly, hypertrophic-like chondrocytes emerged within articular cartilage, similar to those often seen in osteoarthritic joints. Indeed, the cells displayed a large size and round shape, expressed collagen X and MMP-13 and were surrounded by an abundant Perlecan-rich pericellular matrix not seen in control articular chondrocytes. In addition, ectopic cartilaginous outgrowths developed on the lateral side of mutant growth plates over time that resembled exostotic characteristic of children with Hereditary Multiple Exostoses, a syndrome caused by Ext mutations and HS deficiency. In sum, the data do show that Ext1 is continuously required for postnatal growth and organization of long bones as well as their adjacent joints. Ext1 deficiency elicits defects that can occur in human skeletal conditions including trabecular bone loss

  6. The trajectory of gray matter development in Broca’s area is abnormal in people who stutter.

    Directory of Open Access Journals (Sweden)

    Deryk Scott Beal

    2015-03-01

    Full Text Available The acquisition and mastery of speech-motor control requires years of practice spanning the course of development. People who stutter often perform poorly on speech-motor tasks thereby calling into question their ability to establish the stable neural motor programs required for masterful speech-motor control. There is evidence to support the assertion that these neural motor programs are represented in the posterior part of Broca’s area, specifically the left pars opercularis. Consequently, various theories of stuttering causation posit that the disorder is related to a breakdown in the formation of the neural motor programs for speech early in development and that this breakdown is maintained throughout life. To date, no study has examined the potential neurodevelopmental signatures of the disorder across pediatric and adult populations. The current study aimed to fill this gap in our knowledge. We hypothesized that the developmental trajectory of cortical thickness in people who stutter would differ across the lifespan in the left pars opercularis relative to a group of control participants. We collected structural magnetic resonance images from 116 males (55 people who stutter ranging in age from 6 to 48 years old. Differences in cortical thickness across ages and between patients and controls were investigated in 30 brain regions previously implicated in speech-motor control. An interaction between age and group was found for the left pars opercularis only. In people who stutter, the pars opercularis did not demonstrate the typical maturational pattern of gradual gray matter thinning with age across the lifespan that we observed in control participants. In contrast, the developmental trajectory of gray matter thickness in other regions of interest within the neural network for speech-motor control was similar for both groups. Our findings indicate that the developmental trajectory of gray matter in left pars opercularis is abnormal in

  7. The Relationship between Personality Dimensions and Resiliency to Environmental Stress in Orange-Winged Amazon Parrots (Amazona amazonica, as Indicated by the Development of Abnormal Behaviors.

    Directory of Open Access Journals (Sweden)

    Victoria A Cussen

    Full Text Available Parrots are popular companion animals, but are frequently relinquished because of behavioral problems, including abnormal repetitive behaviors like feather damaging behavior and stereotypy. In addition to contributing to pet relinquishment, these behaviors are important as potential indicators of diminished psychological well-being. While abnormal behaviors are common in captive animals, their presence and/or severity varies between animals of the same species that are experiencing the same environmental conditions. Personality differences could contribute to this observed individual variation, as they are known risk factors for stress sensitivity and affective disorders in humans. The goal of this study was to assess the relationship between personality and the development and severity of abnormal behaviors in captive-bred orange-winged Amazon parrots (Amazona amazonica. We monitored between-individual behavioral differences in enrichment-reared parrots of known personality types before, during, and after enrichment deprivation. We predicted that parrots with higher scores for neurotic-like personality traits would be more susceptible to enrichment deprivation and develop more abnormal behaviors. Our results partially supported this hypothesis, but also showed that distinct personality dimensions were related to different forms of abnormal behavior. While neuroticism-like traits were linked to feather damaging behavior, extraversion-like traits were negatively related to stereotypic behavior. More extraverted birds showed resiliency to environmental stress, developing fewer stereotypies during enrichment deprivation and showing lower levels of these behaviors following re-enrichment. Our data, together with the results of the few studies conducted on other species, suggest that, as in humans, certain personality types render individual animals more susceptible or resilient to environmental stress. Further, this susceptibility/resiliency can

  8. The Relationship between Personality Dimensions and Resiliency to Environmental Stress in Orange-Winged Amazon Parrots (Amazona amazonica), as Indicated by the Development of Abnormal Behaviors.

    Science.gov (United States)

    Cussen, Victoria A; Mench, Joy A

    2015-01-01

    Parrots are popular companion animals, but are frequently relinquished because of behavioral problems, including abnormal repetitive behaviors like feather damaging behavior and stereotypy. In addition to contributing to pet relinquishment, these behaviors are important as potential indicators of diminished psychological well-being. While abnormal behaviors are common in captive animals, their presence and/or severity varies between animals of the same species that are experiencing the same environmental conditions. Personality differences could contribute to this observed individual variation, as they are known risk factors for stress sensitivity and affective disorders in humans. The goal of this study was to assess the relationship between personality and the development and severity of abnormal behaviors in captive-bred orange-winged Amazon parrots (Amazona amazonica). We monitored between-individual behavioral differences in enrichment-reared parrots of known personality types before, during, and after enrichment deprivation. We predicted that parrots with higher scores for neurotic-like personality traits would be more susceptible to enrichment deprivation and develop more abnormal behaviors. Our results partially supported this hypothesis, but also showed that distinct personality dimensions were related to different forms of abnormal behavior. While neuroticism-like traits were linked to feather damaging behavior, extraversion-like traits were negatively related to stereotypic behavior. More extraverted birds showed resiliency to environmental stress, developing fewer stereotypies during enrichment deprivation and showing lower levels of these behaviors following re-enrichment. Our data, together with the results of the few studies conducted on other species, suggest that, as in humans, certain personality types render individual animals more susceptible or resilient to environmental stress. Further, this susceptibility/resiliency can have a long

  9. Development of a method to determine abnormal joint torque coupling patterns during walking in chronic hemiparetic stroke

    NARCIS (Netherlands)

    Fricke, S.S.; Dragunas, A.C.; Gordon, Keith E.; van der Kooij, H.; van Asseldonk, E.H.F.; Dewald, Julius P. A.

    Abnormal joint torque coupling between (sub)maximal isometric hip extension and hip adduction torques was found in individuals with chronic hemiparetic stroke in a previous study, however, it is unclear how this coupling affects dynamic tasks like walking. Especially during stance phase of gait, in

  10. Development of a method to determine abnormal joint torque coupling patterns during walking in chronic hemiparetic stroke

    NARCIS (Netherlands)

    Fricke, S.S.; Dragunas, A.C.; Gordon, K.E.; van der Kooij, H.; van Asseldonk, E.H.F.; Dewald, Julius P. A.

    Abnormal joint torque coupling between (sub)maximal isometric hip extension and hip adduction torques previously reported under isometric conditions might lead to instability during walking in chronic hemiparetic stroke. Since this coupling has not been evaluated during a dynamic task, the aim of

  11. Computer-aided assessment of hepatic contour abnormalities as an imaging biomarker for the prediction of hepatocellular carcinoma development in patients with chronic hepatitis C

    Energy Technology Data Exchange (ETDEWEB)

    Goshima, Satoshi [Department of Radiology, Gifu University Hospital, 1-1 Yanagido, 501-1194 Gifu (Japan); Kanematsu, Masayuki, E-mail: masa_gif@yahoo.co.jp [Department of Radiology, Gifu University Hospital, 1-1 Yanagido, 501-1194 Gifu (Japan); Kondo, Hiroshi; Watanabe, Haruo; Noda, Yoshifumi [Department of Radiology, Gifu University Hospital, 1-1 Yanagido, 501-1194 Gifu (Japan); Fujita, Hiroshi [Department of Intelligent Image Information Division of Regeneration and Advanced Medical Sciences, Graduate School of Medicine, Gifu University, Gifu (Japan); Bae, Kyongtae T. [Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, PA (United States)

    2015-05-15

    Highlights: • Hepatic contour was quantified and converted to hepatic fibrosis index (HFI). • HFI was a significant risk factor for HCC with an odds ratio of 26.4. • HFI may be an important imaging biomarker for managing cirrhotic patients. - Abstract: Purpose: To evaluate whether a hepatic fibrosis index (HFI), quantified on the basis of hepatic contour abnormality, is a risk factor for the development of hepatocellular carcinoma (HCC) in patients with chronic hepatitis C. Materials and methods: Our institutional review board approved this retrospective study and written informed consent was waved. During a 14-month period, consecutive 98 patients with chronic hepatitis C who had no medical history of HCC treatment (56 men and 42 women; mean age, 70.7 years; range, 48–91 years) were included in this study. Gadoxetic acid-enhanced hepatocyte specific phase was used to detect and analyze hepatic contour abnormality. Hepatic contour abnormality was quantified and converted to HFI using in-house proto-type software. We compared HFI between patients with (n = 54) and without HCC (n = 44). Serum levels of albumin, total bilirubin, aspartate transferase, alanine transferase, percent prothrombin time, platelet count, alpha-fetoprotein, protein induced by vitamin K absence-II, and HFI were tested as possible risk factors for the development of HCC by determining the odds ratio with logistic regression analysis. Results: HFIs were significantly higher in patients with HCC (0.58 ± 0.86) than those without (0.36 ± 0.11) (P < 0.001). Logistic analysis revealed that only HFI was a significant risk factor for HCC development with an odds ratio (95% confidence interval) of 26.4 (9.0–77.8) using a cutoff value of 0.395. Conclusion: The hepatic fibrosis index, generated using a computer-aided assessment of hepatic contour abnormality, may be a useful imaging biomarker for the prediction of HCC development in patients with chronic hepatitis C.

  12. Robust algorithmic detection of the developed cardiac pathologies and emerging or transient abnormalities from short periods of RR data

    Science.gov (United States)

    Gavrishchaka, Valeriy V.; Senyukova, Olga

    2011-06-01

    Numerous research efforts and clinical testing have confirmed validity of heart rate variability (HRV) analysis as one of the cardiac diagnostics modalities. The majority of HRV analysis tools currently used in practice are based on linear indicators. Methods from nonlinear dynamics (NLD) provide more natural modeling framework for adaptive biological systems with multiple feedback loops. Compared to linear indicators, many NLD-based measures are much less sensitive to data artifacts and non-stationarity. However, majority of NLD measures require long time series for stable calculation. Similar restrictions also apply for linear indicators. Such requirements could drastically limit practical usability of HRV analysis in many applications, including express diagnostics, early indication of subtle directional changes during personalization of medical treatment, and robust detection of emerging or transient abnormalities. Recently we have illustrated that these challenges could be overcome by using classification framework based on boosting-like ensemble learning techniques that are capable of discovering robust meta-indicators from existing HRV measures and other incomplete empirical knowledge. In this paper we demonstrate universality of such meta-indicators and discuss operational details of their practical usage. Using such pathology examples as congestive heart failure (CHF) and arrhythmias, we show that classifiers trained on short RR segments (down to several minutes) could achieve reasonable classification accuracy (˜80-85% and higher). These indicators calculated from longer RR segments could be applicable for accurate diagnostics with classification accuracy approaching 100%. In addition, it is feasible to discover single "normal-abnormal" meta-classifier capable of detecting multiple abnormalities.

  13. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

    Science.gov (United States)

    Traboulsi, Elias I

    2004-01-01

    The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23-q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei.

  14. Concept and development of a discharge alert filter for abnormal laboratory values coupled with computerized provider order entry: a tool for quality improvement and hospital risk management.

    Science.gov (United States)

    Mathew, George; Kho, Abel; Dexter, Paul; Bloodworth, Nathaniel; Fantz, Corinne; Spell, Nathan; LaBorde, David V

    2012-06-01

    To develop a clinical decision support system activated at the time of discharge to reduce potentially inappropriate discharges from unidentified or unaddressed abnormal laboratory values. We identified 106 laboratory tests for possible inclusion in the discharge alert filter. We selected 7 labs as widely available, commonly obtained, and associated with high risk for potential morbidity or mortality within abnormal ranges. We identified trigger thresholds at levels that would capture significant laboratory abnormalities while avoiding excessive flag generation because of laboratory results that minimally deviate outside the normal reference range. We selected sodium (>155 or 6 mEq/dL) phosphorous (11,000 cells/mm with a rise of 20% or more between the 2 most recent results), and international normalized ratio greater than 4. A discharge alert filter that reliably and effectively identifies patients that may be discharged in unsafe situations because of unaddressed critical laboratory values can improve patient safety at discharge and potentially reduce the incidence of costly litigation. Further research is needed to validate whether the proposed discharge alert filter is effective at improving patient safety at discharge.

  15. Development of a decision support tool to facilitate primary care management of patients with abnormal liver function tests without clinically apparent liver disease [HTA03/38/02]. Abnormal Liver Function Investigations Evaluation (ALFIE

    Directory of Open Access Journals (Sweden)

    Sullivan Frank M

    2007-04-01

    Full Text Available Abstract Background Liver function tests (LFTs are routinely performed in primary care, and are often the gateway to further invasive and/or expensive investigations. Little is known of the consequences in people with an initial abnormal liver function (ALF test in primary care and with no obvious liver disease. Further investigations may be dangerous for the patient and expensive for Health Services. The aims of this study are to determine the natural history of abnormalities in LFTs before overt liver disease presents in the population and identify those who require minimal further investigations with the potential for reduction in NHS costs. Methods/Design A population-based retrospective cohort study will follow up all those who have had an incident liver function test (LFT in primary care to subsequent liver disease or mortality over a period of 15 years (approx. 2.3 million tests in 99,000 people. The study is set in Primary Care in the region of Tayside, Scotland (pop approx. 429,000 between 1989 and 2003. The target population consists of patients with no recorded clinical signs or symptoms of liver disease and registered with a GP. The health technologies being assessed are LFTs, viral and auto-antibody tests, ultrasound, CT, MRI and liver biopsy. The study will utilise the Epidemiology of Liver Disease In Tayside (ELDIT database to determine the outcomes of liver disease. These are based on hospital admission data (Scottish Morbidity Record 1, dispensed medication records, death certificates, and examination of medical records from Tayside hospitals. A sample of patients (n = 150 with recent initial ALF tests or invitation to biopsy will complete questionnaires to obtain quality of life data and anxiety measures. Cost-effectiveness and cost utility Markov model analyses will be performed from health service and patient perspectives using standard NHS costs. The findings will also be used to develop a computerised clinical decision

  16. [Abnormal floral meristem development in transgenic tomato plants do not depend on the expression of genes encoding defense-related PR-proteins and antimicrobial peptides].

    Science.gov (United States)

    Khaliluev, M R; Chaban, I A; Kononenko, N V; Baranova, E N; Dolgov, S V; Kharchenko, P N; Poliakov, V Iu

    2014-01-01

    In this study, the morphological and cytoembryological analyses of the tomato plants transformed with the genes encoding chitin-binding proteins (ac and RS-intron-Shir) from Amaranthus caudatus L. andA. retroflexus L., respectively, as well as the gene amp2 encoding hevein-like antimicrobial peptides from Stellaria media L., have been performed. The transgenic lines were adapted to soil and grown the greenhouse. The analysis of putative transgenic tomato plants revealed several lines that did not differ phenotypically from the wild type plants and three lines with disruption in differentiation of the inflorescence shoot and the flower, as well as the fruit formation (modified plants of each line were transformed with a single gene as noted before). Abnormalities in the development of the generative organs were maintained for at least six vegetative generations. These transgenic plants were shown to be defective in the mail gametophyte formation, fertilization, and, consequently, led to parthenocarpic fruits. The detailed analysis of growing ovules in the abnormal transgenic plants showed that the replacement tissue was formed and proliferated instead of unfertilized embryo sac. The structure of the replacement tissue differed from both embryonic and endosperm tissue of the normal ovule. The formation of the replacement tissue occurred due to continuing proliferation of the endothelial cells that lost their ability for differentiation. The final step in the development of the replacement tissue was its death, which resulted in the cell lysis. The expression of the genes used was confirmed by RT-PCR in all three lines with abnormal phenotype, as well as in several lines that did not phenotypically differ from the untransformed control. This suggests that abnormalities in the organs of the generative sphere in the transgenic plants do not depend on the expression of the foreign genes that were introduced in the tomato genome. Here, we argue that agrobacterial

  17. A new Approach to the Study of Russian Language Acquisition in Preschool Children with Normal and Abnormal Development

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    Lebedeva T.V

    2014-11-01

    Full Text Available We discuss the possibilities of using a standardized method of psychological evaluation of the Russian language development in preschool children. We provide a rationale for the relevance of timely differentiation of children with language and speech difficulties in modern educational practice. We present the results of comparative analysis of language and speech development in the two groups of children 5-6 years old: normally developing (N=92 and with language and speech disorders (N=59. We describe the diagnostic potential of this research tool for clinical sample of children with speech and language disorders, reveal differences in the development of Russian language between the two groups of children. The data obtained can be used in solving the problems of differentiated correctional help to pre-school children with impaired language and speech development.

  18. Role of various subtypes of muscarinic cholinergic receptors in the development of posthemorrhagic abnormalities in systemic and portal circulation in rats.

    Science.gov (United States)

    Kovalenko, N Ya; Matsievskii, D D; Reshetnyak, V K

    2012-01-01

    The experiments employing high-frequency ultrasonic technique and selective blockers of M1, M3, and M4 muscarinic cholinergic receptors pirenzepine, 4-DAMP, and tropicamide, respectively, revealed individual roles of these receptors in the development of severe posthemorrhagic hypotension in rats with low or high individual resistance to circulatory hypoxia. The study showed that M1 and M4 muscarinic receptors are involved in shock-limiting and shock-activating processes, respectively, while M3 receptors exert no effect on the course of posthemorrhagic abnormalities in systemic and hepatic portal circulation and on the posthemorrhagic lifespan. Poor resistance of the cardiovascular system to circulatory hypoxia during shock development is considered to be dysregulatory pathology.

  19. Decreased sorbitol synthesis leads to abnormal stamen development and reduced pollen tube growth via an MYB transcription factor, MdMYB39L, in apple (Malus domestica).

    Science.gov (United States)

    Meng, Dong; He, Mingyang; Bai, Yang; Xu, Hongxia; Dandekar, Abhaya M; Fei, Zhangjun; Cheng, Lailiang

    2017-10-13

    Sugars produced by photosynthesis not only fuel plant growth and development, but may also act as signals to regulate plant growth and development. This work focuses on the role of sorbitol, a sugar alcohol, in flower development and pollen tube growth of apple (Malus domestica). Transgenic 'Greensleeves' apple trees with decreased sorbitol synthesis had abnormal stamen development, a decreased pollen germination rate and reduced pollen tube growth, which were all closely related to lower sorbitol concentrations in stamens. RNA sequencing and quantitative RT-PCR analyses identified reduced transcript levels during stamen development and pollen tube growth in the transgenic trees of a stamen-specific MYB39-like transcription factor, MdMYB39L, and of its putative target genes involved in hexose uptake, cell wall formation and microsporogenesis. Suppressing MdMYB39L expression in pollen via antisense oligonucleotide transfection significantly reduced the expression of its putative target genes and pollen tube growth. Exogenous sorbitol application during flower development partially restored MdMYB39L expression, stamen development, and pollen germination and tube growth of the transgenic trees. Addition of sorbitol to the germination medium also partially restored pollen germination and tube growth of the transgenic trees. We conclude that sorbitol plays an essential role in stamen development and pollen tube growth via MdMYB39L in apple. © 2017 The Authors New Phytologist © 2017 New Phytologist Trust.

  20. Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease.

    Science.gov (United States)

    Li, Rui; Sun, Le; Fang, Ai; Li, Peng; Wu, Qian; Wang, Xiaoqun

    2017-11-01

    The development of a cerebral organoid culture in vitro offers an opportunity to generate human brain-like organs to investigate mechanisms of human disease that are specific to the neurogenesis of radial glial (RG) and outer radial glial (oRG) cells in the ventricular zone (VZ) and subventricular zone (SVZ) of the developing neocortex. Modeling neuronal progenitors and the organization that produces mature subcortical neuron subtypes during early stages of development is essential for studying human brain developmental diseases. Several previous efforts have shown to grow neural organoid in culture dishes successfully, however we demonstrate a new paradigm that recapitulates neocortical development process with VZ, OSVZ formation and the lamination organization of cortical layer structure. In addition, using patient-specific induced pluripotent stem cells (iPSCs) with dysfunction of the Aspm gene from a primary microcephaly patient, we demonstrate neurogenesis defects result in defective neuronal activity in patient organoids, suggesting a new strategy to study human developmental diseases in central nerve system.

  1. Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary microcephaly disease

    Directory of Open Access Journals (Sweden)

    Rui Li

    2017-10-01

    Full Text Available Abstract The development of a cerebral organoid culture in vitro offers an opportunity to generate human brain-like organs to investigate mechanisms of human disease that are specific to the neurogenesis of radial glial (RG and outer radial glial (oRG cells in the ventricular zone (VZ and subventricular zone (SVZ of the developing neocortex. Modeling neuronal progenitors and the organization that produces mature subcortical neuron subtypes during early stages of development is essential for studying human brain developmental diseases. Several previous efforts have shown to grow neural organoid in culture dishes successfully, however we demonstrate a new paradigm that recapitulates neocortical development process with VZ, OSVZ formation and the lamination organization of cortical layer structure. In addition, using patient-specific induced pluripotent stem cells (iPSCs with dysfunction of the Aspm gene from a primary microcephaly patient, we demonstrate neurogenesis defects result in defective neuronal activity in patient organoids, suggesting a new strategy to study human developmental diseases in central nerve system.

  2. The Role of Chronic Hypoxia in the Development of Neurocognitive Abnormalities in Preterm Infants with Bronchopulmonary Dysplasia

    Science.gov (United States)

    Raman, Lakshmi; Georgieff, Michael K.; Rao, Raghavendra

    2006-01-01

    Bronchopulmonary dysplasia is the most common pulmonary morbidity in preterm infants and is associated with chronic hypoxia. Animal studies have demonstrated structural, neurochemical and functional alterations due to chronic hypoxia in the developing brain. Long-term impairments in visual-motor, gross and fine motor, articulation, reading,…

  3. Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern

    OpenAIRE

    Decker, Amanda R.; McNeill, Matthew S.; Lambert, Aaron M.; Overton, Jeffrey D.; Chen, Yu-Chia; Lorca, Ramón A.; Johnson, Nicolas A.; Brockerhoff, Susan E.; Mohapatra, Durga P.; MacArthur, Heather; Panula, Pertti; Masino, Mark A.; Runnels, Loren W.; Cornell, Robert A.

    2013-01-01

    Transient receptor potential, melastatin-like 7 (Trpm7) is a combined ion channel and kinase implicated in the differentiation or function of many cell types. Early lethality in mice and frogs depleted of the corresponding gene impedes investigation of the functions of this protein particularly during later stages of development. By contrast, zebrafish trpm7 mutant larvae undergo early morphogenesis normally and thus do not have this limitation. The mutant larvae are characterized by multiple...

  4. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning

    OpenAIRE

    Francesca eBaglio; MONIA eCABINIO; Cristian eRicci; Gisella eBaglio; Susanna eLipari; LUDOVICA eGRIFFANTI; Maria Giulia ePreti; Raffaello eNemni; Mario eClerici; Michela eZanette; Valeria eBlasi

    2014-01-01

    Borderline intellectual functioning (BIF) is a condition characterized by an intelligence quotient (IQ) between 70 and 85. BIF children present with cognitive, motor, social and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. Aim of this study was to investigate brain morphometry and its relation to IQ level in borderline intellectual functioning children.Thirteen children with BIF and 14 age- and sex-matched typica...

  5. Development of lysosome-mimicking vesicles to study the effect of abnormal accumulation of sphingosine on membrane properties

    OpenAIRE

    Carreira, Ana C; de Almeida, Rodrigo F.M.; Silva, Liana C.

    2017-01-01

    Synthetic systems are widely used to unveil the molecular mechanisms of complex cellular events. Artificial membranes are key examples of models employed to address lipid-lipid and lipid-protein interactions. In this work, we developed a new synthetic system that more closely resembles the lysosome ? the lysosome-mimicking vesicles (LMVs) ? displaying stable acid-to-neutral pH gradient across the membrane. To evaluate the advantages of this synthetic system, we assessed the distinct effects o...

  6. Identification of nickel response genes in abnormal early developments of sea urchin by differential display polymerase chain reaction.

    Science.gov (United States)

    Ryu, Tae Kwon; Lee, Gunsup; Rhee, Yong; Park, Heung-Sik; Chang, Man; Lee, Sukchan; Lee, Jaean; Lee, Taek-Kyun

    2012-10-01

    Bioassays and biomarkers have been previously developed to assess the effects of heavy metal contaminants on the early life stages of the sea urchin. In this study, malformation in the early developmental processes was observed in sea urchin (Strongylocentrotus intermedius) larvae exposed to 10 ppm Ni for over 30 h. The most critical stage at which the triggering of nickel effects takes place is thought to be the blastula stage, which occurs after fertilization in larval development. To investigate the molecular-level responses of sea urchin exposed to heavy metal stress and to explore the differentially expressed genes that are induced or repressed by nickel, differential display polymerase chain reaction (DD-PCR) was used with sea urchin mRNAs. The malformation-related genes expressed in the early life stages of the sea urchin were cloned from larvae exposed to 10 ppm of nickel for 15 h, and accessed via DD-PCR. Sequence analysis results revealed that each of the genes evidenced high homology with EGF2, PCSK9, serine/threonine protein kinase, apolipophorin precursor protein, and MGC80921 protein/transcript variant 2. This result may prove useful in the development of novel biomarkers for the assessment of heavy metal stresses on sea urchin embryos. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Global motion perception is related to motor function in 4.5-year-old children born at risk of abnormal development.

    Science.gov (United States)

    Chakraborty, Arijit; Anstice, Nicola S; Jacobs, Robert J; Paudel, Nabin; LaGasse, Linda L; Lester, Barry M; McKinlay, Christopher J D; Harding, Jane E; Wouldes, Trecia A; Thompson, Benjamin

    2017-06-01

    Global motion perception is often used as an index of dorsal visual stream function in neurodevelopmental studies. However, the relationship between global motion perception and visuomotor control, a primary function of the dorsal stream, is unclear. We measured global motion perception (motion coherence threshold; MCT) and performance on standardized measures of motor function in 606 4.5-year-old children born at risk of abnormal neurodevelopment. Visual acuity, stereoacuity and verbal IQ were also assessed. After adjustment for verbal IQ or both visual acuity and stereoacuity, MCT was modestly, but significantly, associated with all components of motor function with the exception of fine motor scores. In a separate analysis, stereoacuity, but not visual acuity, was significantly associated with both gross and fine motor scores. These results indicate that the development of motion perception and stereoacuity are associated with motor function in pre-school children. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Loss of PiT-2 results in abnormal bone development and decreased bone mineral density and length in mice.

    Science.gov (United States)

    Yamada, Shunsuke; Wallingford, Mary C; Borgeia, Suhaib; Cox, Timothy C; Giachelli, Cecilia M

    2018-01-01

    Normal bone mineralization requires phosphate oversaturation in bone matrix vesicles, as well as normal regulation of phosphate metabolism via the interplay among bone, intestine, and kidney. In turn, derangement of phosphate metabolism greatly affects bone function and structure. The type III sodium-dependent phosphate transporters, PiT-1 and PiT-2, are believed to be important in tissue phosphate metabolism and physiological bone formation, but their requirement and molecular roles in bone remain poorly investigated. In order to decipher the role of PiT-2 in bone, we examined normal bone development, growth, and mineralization in global PiT-2 homozygous knockout mice. PiT-2 deficiency resulted in reduced vertebral column, femur, and tibia length as well as mandibular dimensions. Micro-computed tomography analysis revealed that bone mineral density in the mandible, femur, and tibia were decreased, indicating that maintenance of bone function and structure is impaired in both craniofacial and long bones of PiT-2 deficient mice. Both cortical and trabecular thickness and mineral density were reduced in PiT-2 homozygous knockout mice compared with wild-type mice. These results suggest that PiT-2 is involved in normal bone development and growth and plays roles in cortical and trabecular bone metabolism feasibly by regulating local phosphate transport and mineralization processes in the bone. Further studies that evaluate bone cell-specific loss of PiT-2 are now warranted and may yield insight into complex mechanisms of bone development and growth, leading to identification of new therapeutic options for patients with bone diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Abnormalities of Endocytosis, Phagocytosis, and Development Process in Dictyostelium Cells That Over-Express Acanthamoeba castellanii Metacaspase Protein.

    Directory of Open Access Journals (Sweden)

    Entsar Saheb

    2015-06-01

    Full Text Available Acanthamoeba castellanii forms a resistant cyst that protects the parasite against the host's immune response. Acanthamoeba Type-I metacaspase (Acmcp is a caspase-like protein that has been found to be expressed during the encystations. Dictyostelium discoideum is an organism closely related to Acanthamoeba useful for studying the molecular function of this protozoan caspase-like protein.The full length of Acmcp and a mutated version of the same gene, which lacks the proline rich N-terminal region (Acmcp-dpr, were cloned into the pDneo2a-GFP vector separately. The pDneo2a-GFP-Acmcp and pDneo2a-GFPAcmcp-dpr were electro-transfected into wild type D. discoideum cells to create cell lines that over-expressed Acmcp or Acmcp-dpr.Both cell lines that over-expressed Acmcp and Acmcp-dpr showed a significant increase in the fluid phase internalization and phagocytosis rate compared to the control cells. Additionally, the cells expressing the Acmcp-dpr mutant were unable to initiate early development and failed to aggregate or form fruiting bodies under starvation conditions, whereas Acmcp over-expressing cells showed the opposite phenomena. Quantitative cell death analysis provided additional support for these findings.Acmcp is involved in the processes of endocytosis and phagocytosis. In addition, the proline rich region in Acmcp is important for cellular development in Dictyostelium. Given its important role in the development process, metacaspase protein is proposed as a candidate drug target against infections caused by A. castellanii.

  10. Ablation of Mrds1/Ofcc1 Induces Hyper-γ-Glutamyl Transpeptidasemia without Abnormal Head Development and Schizophrenia-Relevant Behaviors in Mice

    Science.gov (United States)

    Ohnishi, Tetsuo; Yamada, Kazuo; Watanabe, Akiko; Ohba, Hisako; Sakaguchi, Toru; Honma, Yota; Iwayama, Yoshimi; Toyota, Tomoko; Maekawa, Motoko; Watanabe, Kazutada; Detera-Wadleigh, Sevilla D.; Wakana, Shigeharu; Yoshikawa, Takeo

    2011-01-01

    Mutations in the Opo gene result in eye malformation in medaka fish. The human ortholog of this gene, MRDS1/OFCC1, is a potentially causal gene for orofacial cleft, as well as a susceptibility gene for schizophrenia, a devastating mental illness. Based on this evidence, we hypothesized that this gene could perform crucial functions in the development of head and brain structures in vertebrates. To test this hypothesis, we created Mrds1/Ofcc1-null mice. Mice were examined thoroughly using an abnormality screening system referred to as “the Japan Mouse Clinic”. No malformations of the head structure, eye or other parts of the body were apparent in these knockout mice. However, the mutant mice showed a marked increase in serum γ-glutamyl transpeptidase (GGT), a marker for liver damage, but no abnormalities in other liver-related measurements. We also performed a family-based association study on the gene in schizophrenia samples of Japanese origin. We found five single nucleotide polymorphisms (SNPs) located across the gene that showed significant transmission distortion, supporting a prior report of association in a Caucasian cohort. However, the knockout mice showed no behavioral phenotypes relevant to schizophrenia. In conclusion, disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-γ-glutamyl-transpeptidasemia in mice. However, there were no phenotypes to support a role for the gene in the development of eye and craniofacial structures in vertebrates. These results prompt further examination of the gene, including its putative contribution to hyper-γ-glutamyl transpeptidasemia and schizophrenia. PMID:22242126

  11. Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice.

    Directory of Open Access Journals (Sweden)

    Tetsuo Ohnishi

    Full Text Available Mutations in the Opo gene result in eye malformation in medaka fish. The human ortholog of this gene, MRDS1/OFCC1, is a potentially causal gene for orofacial cleft, as well as a susceptibility gene for schizophrenia, a devastating mental illness. Based on this evidence, we hypothesized that this gene could perform crucial functions in the development of head and brain structures in vertebrates. To test this hypothesis, we created Mrds1/Ofcc1-null mice. Mice were examined thoroughly using an abnormality screening system referred to as "the Japan Mouse Clinic". No malformations of the head structure, eye or other parts of the body were apparent in these knockout mice. However, the mutant mice showed a marked increase in serum γ-glutamyl transpeptidase (GGT, a marker for liver damage, but no abnormalities in other liver-related measurements. We also performed a family-based association study on the gene in schizophrenia samples of Japanese origin. We found five single nucleotide polymorphisms (SNPs located across the gene that showed significant transmission distortion, supporting a prior report of association in a Caucasian cohort. However, the knockout mice showed no behavioral phenotypes relevant to schizophrenia. In conclusion, disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-γ-glutamyl-transpeptidasemia in mice. However, there were no phenotypes to support a role for the gene in the development of eye and craniofacial structures in vertebrates. These results prompt further examination of the gene, including its putative contribution to hyper-γ-glutamyl transpeptidasemia and schizophrenia.

  12. Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern.

    Science.gov (United States)

    Decker, Amanda R; McNeill, Matthew S; Lambert, Aaron M; Overton, Jeffrey D; Chen, Yu-Chia; Lorca, Ramón A; Johnson, Nicolas A; Brockerhoff, Susan E; Mohapatra, Durga P; MacArthur, Heather; Panula, Pertti; Masino, Mark A; Runnels, Loren W; Cornell, Robert A

    2014-02-15

    Transient receptor potential, melastatin-like 7 (Trpm7) is a combined ion channel and kinase implicated in the differentiation or function of many cell types. Early lethality in mice and frogs depleted of the corresponding gene impedes investigation of the functions of this protein particularly during later stages of development. By contrast, zebrafish trpm7 mutant larvae undergo early morphogenesis normally and thus do not have this limitation. The mutant larvae are characterized by multiple defects including melanocyte cell death, transient paralysis, and an ion imbalance that leads to the development of kidney stones. Here we report a requirement for Trpm7 in differentiation or function of dopaminergic neurons in vivo. First, trpm7 mutant larvae are hypomotile and fail to make a dopamine-dependent developmental transition in swim-bout length. Both of these deficits are partially rescued by the application of levodopa or dopamine. Second, histological analysis reveals that in trpm7 mutants a significant fraction of dopaminergic neurons lack expression of tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Third, trpm7 mutants are unusually sensitive to the neurotoxin 1-methyl-4-phenylpyridinium, an oxidative stressor, and their motility is partially rescued by application of the iron chelator deferoxamine, an anti-oxidant. Finally, in SH-SY5Y cells, which model aspects of human dopaminergic neurons, forced expression of a channel-dead variant of TRPM7 causes cell death. In summary, a forward genetic screen in zebrafish has revealed that both melanocytes and dopaminergic neurons depend on the ion channel Trpm7. The mechanistic underpinning of this dependence requires further investigation. © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  13. Development of lysosome-mimicking vesicles to study the effect of abnormal accumulation of sphingosine on membrane properties.

    Science.gov (United States)

    Carreira, Ana C; de Almeida, Rodrigo F M; Silva, Liana C

    2017-06-21

    Synthetic systems are widely used to unveil the molecular mechanisms of complex cellular events. Artificial membranes are key examples of models employed to address lipid-lipid and lipid-protein interactions. In this work, we developed a new synthetic system that more closely resembles the lysosome - the lysosome-mimicking vesicles (LMVs) - displaying stable acid-to-neutral pH gradient across the membrane. To evaluate the advantages of this synthetic system, we assessed the distinct effects of sphingosine (Sph) accumulation in membrane structure and biophysical properties of standard liposomes (no pH gradient) and in LMVs with lipid composition tuned to mimic physiological- or NPC1-like lysosomes. Ternary 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC)/Sphingomyelin (SM)/Cholesterol (Chol) mixtures with, respectively, low and high Chol/SM levels were prepared. The effect of Sph on membrane permeability and biophysical properties was evaluated by fluorescence spectroscopy, electrophoretic and dynamic light scattering. The results showed that overall Sph has the ability to cause a shift in vesicle surface charge, increase membrane order and promote a rapid increase in membrane permeability. These effects are enhanced in NPC1- LMVs. The results suggest that lysosomal accumulation of these lipids, as observed under pathological conditions, might significantly affect lysosomal membrane structure and integrity, and therefore contribute to the impairment of cell function.

  14. Congenital penile pathology is associated with abnormal development of the dartos muscle: a prospective study of primary penile surgery at a tertiary referral center.

    Science.gov (United States)

    Spinoit, A-F; Van Praet, C; Groen, L-A; Van Laecke, E; Praet, M; Hoebeke, P

    2015-05-01

    Pathophysiological mechanisms leading to chordee in patients with hypospadias and to the hidden state of buried penis in the prepubic fat remain unclear. Resection of dartos tissue usually makes the penis straight in patients with hypospadias and corrects it in those with buried penis, suggesting a common pathophysiology related to dartos tissue. Tissue samples from 113 children undergoing primary penile surgery for hypospadias (94 patients), epispadias (1) or buried penis (18) were collected between November 2011 and September 2013. Tissue samples from 79 children undergoing circumcision for nonmedical reasons served as controls. All samples were stained with smooth muscle actin and analyzed by the same pathologist, who was blinded to indication for surgery. Chi-square and Fisher exact tests were applied. Three different dartos tissue patterns were observed. Pattern I (normal) consisted of smooth muscle fibers of dartos tissue organized in a parallel configuration in the subcutaneous tissue. Pattern II was characterized by poorly developed and hypotrophic smooth muscle fibers. Pattern III was determined by randomly distributed smooth muscle fibers in the subcutaneous tissue, without parallel configuration. Pattern I was observed in 45 circumcision specimens (64%). Of buried penis cases 78% were considered abnormal (pattern II in 4 cases and III in 10, p = 0.001). Of hypospadias cases 70% were considered abnormal (pattern II in 31 cases, III in 32, and mixed II and III in 3, p Congenital penile pathology (hypospadias, buried penis) is associated with structural anomalies in dartos tissue. Further research is needed to unveil the pathophysiology of the condition. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  15. Structurally abnormal human autosomes

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  16. AKAP13 Rho-GEF and PKD-binding domain deficient mice develop normally but have an abnormal response to β-adrenergic-induced cardiac hypertrophy.

    Directory of Open Access Journals (Sweden)

    Matthew J Spindler

    Full Text Available A-kinase anchoring proteins (AKAPs are scaffolding molecules that coordinate and integrate G-protein signaling events to regulate development, physiology, and disease. One family member, AKAP13, encodes for multiple protein isoforms that contain binding sites for protein kinase A (PKA and D (PKD and an active Rho-guanine nucleotide exchange factor (Rho-GEF domain. In mice, AKAP13 is required for development as null embryos die by embryonic day 10.5 with cardiovascular phenotypes. Additionally, the AKAP13 Rho-GEF and PKD-binding domains mediate cardiomyocyte hypertrophy in cell culture. However, the requirements for the Rho-GEF and PKD-binding domains during development and cardiac hypertrophy are unknown.To determine if these AKAP13 protein domains are required for development, we used gene-trap events to create mutant mice that lacked the Rho-GEF and/or the protein kinase D-binding domains. Surprisingly, heterozygous matings produced mutant mice at Mendelian ratios that had normal viability and fertility. The adult mutant mice also had normal cardiac structure and electrocardiograms. To determine the role of these domains during β-adrenergic-induced cardiac hypertrophy, we stressed the mice with isoproterenol. We found that heart size was increased similarly in mice lacking the Rho-GEF and PKD-binding domains and wild-type controls. However, the mutant hearts had abnormal cardiac contractility as measured by fractional shortening and ejection fraction.These results indicate that the Rho-GEF and PKD-binding domains of AKAP13 are not required for mouse development, normal cardiac architecture, or β-adrenergic-induced cardiac hypertrophic remodeling. However, these domains regulate aspects of β-adrenergic-induced cardiac hypertrophy.

  17. Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease.

    Directory of Open Access Journals (Sweden)

    Charlene M Downey

    2009-08-01

    Full Text Available Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in drinking water, and, importantly, deficiency of selenium. This multifunctional trace element, in the form of selenocysteine, is essential for normal selenoprotein function, including attenuation of excessive oxidative stress, and for the control of redox-sensitive molecules involved in cell growth and differentiation. To investigate the effects of skeletal selenoprotein deficiency, a Cre recombinase transgenic mouse line was used to trigger Trsp gene deletions in osteo-chondroprogenitors. Trsp encodes selenocysteine tRNA([Ser]Sec, required for the incorporation of selenocysteine residues into selenoproteins. The mutant mice exhibited growth retardation, epiphyseal growth plate abnormalities, and delayed skeletal ossification, as well as marked chondronecrosis of articular, auricular, and tracheal cartilages. Phenotypically, the mice thus replicated a number of the pathological features of Kashin-Beck disease, supporting the notion that selenium deficiency is important to the development of this syndrome.

  18. Chromosomal Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  19. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  20. Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome.

    Directory of Open Access Journals (Sweden)

    Qi Yang

    Full Text Available Fragile X syndrome (FXS is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study, we found that astrocytes derived from a Fragile X model, the Fmr1 knockout (KO mouse which lacks FMRP expression, inhibited the proper elaboration of dendritic processes of neurons in vitro. Furthermore, astrocytic conditioned medium (ACM from KO astrocytes inhibited proper dendritic growth of both wild-type (WT and KO neurons. Inducing expression of FMRP by transfection of FMRP vectors in KO astrocytes restored dendritic morphology and levels of synaptic proteins. Further experiments revealed elevated levels of the neurotrophin-3 (NT-3 in KO ACM and the prefrontal cortex of Fmr1 KO mice. However, the levels of nerve growth factor (NGF, brain-derived neurotrophic factor (BDNF, glial cell-derived neurotrophic factor (GDNF, and ciliary neurotrophic factor (CNTF were normal. FMRP has multiple RNA-binding motifs and is involved in translational regulation. RNA-binding protein immunoprecipitation (RIP showed the NT-3 mRNA interacted with FMRP in WT astrocytes. Addition of high concentrations of exogenous NT-3 to culture medium reduced the dendrites of neurons and synaptic protein levels, whereas these measures were ameliorated by neutralizing antibody to NT-3 or knockdown of NT-3 expression in KO astrocytes through short hairpin RNAs (shRNAs. Prefrontal cortex microinjection of WT astrocytes or NT-3 shRNA infected KO astrocytes rescued the deficit of trace fear memory in KO mice, concomitantly decreased the NT-3 levels in the prefrontal cortex. This study indicates that excessive NT-3 from astrocytes contributes to the abnormal neuronal dendritic development and that astrocytes could be a potential therapeutic target for FXS.

  1. Communication and abnormal behaviour.

    Science.gov (United States)

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  2. Development of an assessment methodology for geopressured zones of the upper Gulf Coast based on a study of abnormally pressured gas fields in south Texas

    Energy Technology Data Exchange (ETDEWEB)

    Swanson, R K; Oetking, P; Osoba, J S; Hagens, R C

    1976-08-01

    Detailed study of the producing gas fields in south Texas has identified a total of 47 abnormally pressured fields in a six-county area including Hidalgo, Brooks, Cameron, Willacy, Kenedy, and Live Oak Counties. An assessment methodology for assessing the potential of the deep geopressured zone in south Texas as an energy resource was developed, based on investigation of the reservoir parameters of these fields. This methodology is transferrable to broad areas of the Gulf Coast. The depth of the geopressured zone in the study area ranges from 7000 ft in western Hidalgo to 12,000 ft in central Cameron County. Temperature data from within the fields, corrected to undisturbed reservoir values, yields a 300/sup 0/F isogeothermal surface at depths from 10,500 ft to 17,000 ft over the study area. The question of fluid deliverability was found to be paramount in determining the potential of the geopressure-geothermal resource as a practical source of energy. The critical parameter is the effective reservoir permeability throughout the study region. Individual fields were assessed for their potential to produce large quantities of geothermal fluid based on reservoir study and detailed geological investigation. Five locations within the study region have been selected as potential candidates for further evaluation and possible eventual testing. Based on investigation of permeability and temperature, the upper limit of fluid temperature likely to be produced in the lower south Texas study region is 300/sup 0/F. In Live Oak County, the possibility of producing fluid at higher temperatures is somewhat improved, with a reasonable possibility of producing fluid at 350/sup 0/ to 375/sup 0/F.

  3. Mastoid abnormalities in Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-06-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

  4. Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism. Subproject 1: The Neuropathological Markers of Abnormal Brain Development and Aging in Autism

    Science.gov (United States)

    2013-04-01

    Cerebellar dysplasia in 62%; (d) Subcortical, periventricular, hippocampal and cerebellar heterotopias reflect abnormal neuronal igration in 31...patient with autism, epilepsy and ataxia . Dev Med Child Neurol 1994;36:736–42 10 Cheng S, Spinner NB, Zackai EH, et al. Cytogenetic and molecular

  5. Development of the cardiac conduction tissue in human embryos using HNK-1 antigen expression: possible relevance for understanding of abnormal atrial automaticity

    NARCIS (Netherlands)

    Blom, N. A.; Gittenberger-de Groot, A. C.; DeRuiter, M. C.; Poelmann, R. E.; Mentink, M. M.; Ottenkamp, J.

    1999-01-01

    BACKGROUND: Abnormal atrial automaticity in young patients with structurally normal hearts is often located around the pulmonary veins and in sinus venosus-related parts of the right atrium. We hypothesize that these ectopic pacemaker sites correspond to areas of embryonic myocardium with an early

  6. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality.

    Science.gov (United States)

    Grollemund, Bruno; Guedeney, Antoine; Vazquez, Marie-Paule; Picard, Arnaud; Soupre, Véronique; Pellerin, Philippe; Simon, Etienne; Velten, Michel; Dissaux, Caroline; Kauffmann, Isabelle; Bruant-Rodier, Catherine; Danion-Grilliat, Anne

    2012-06-08

    The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent-child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child-parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so as to serve as a reference for improving

  7. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    Directory of Open Access Journals (Sweden)

    Grollemund Bruno

    2012-06-01

    Full Text Available Abstract Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0 and when the child is one year old (T1. At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life and also, for the first time, for the child (distress, withdrawal. In an ethical perspective, the different time lapses until surgery in the different protocols and their

  8. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

    Directory of Open Access Journals (Sweden)

    Jakub Sikora

    2016-01-01

    Full Text Available Christianson syndrome (CS is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium-hydrogen exchanger 6 (NHE6 protein, functional in early recycling endosomes. The extent and variability of the CS phenotype in female heterozygotes, who presumably express the wild-type and mutant SLC9A6 alleles mosaically as a result of X-chromosome inactivation (XCI, have not yet been systematically characterized. Slc9a6 knockout mice (Slc9a6 KO were generated by insertion of the bacterial lacZ/β-galactosidase (β-Gal reporter into exon 6 of the X-linked gene. Mutant Slc9a6 KO male mice have been shown to develop late endosomal/lysosomal dysfunction associated with glycolipid accumulation in selected neuronal populations and patterned degeneration of Purkinje cells (PCs. In heterozygous female Slc9a6 KO mice, β-Gal serves as a transcriptional/XCI reporter and thus facilitates testing of effects of mosaic expression of the mutant allele on penetrance of the abnormal phenotype. Using β-Gal, we demonstrated mosaic expression of the mutant Slc9a6 allele and mosaically distributed lysosomal glycolipid accumulation and PC pathology in the brains of heterozygous Slc9a6 KO female mice. At the behavioral level, we showed that heterozygous female mice suffer from visuospatial memory and motor coordination deficits similar to but less severe than those observed in X-chromosome hemizygous mutant males. Our studies in heterozygous Slc9a6 KO female mice provide important clues for understanding the likely phenotypic range of Christianson syndrome among females heterozygous for SLC9A6 mutations and might improve diagnostic practice and genetic counseling by helping to characterize this presumably

  9. Long-term recovery from hippocampal-related behavioral and biochemical abnormalities induced by noise exposure during brain development. Evaluation of auditory pathway integrity.

    Science.gov (United States)

    Uran, S L; Gómez-Casati, M E; Guelman, L R

    2014-10-01

    Sound is an important part of man's contact with the environment and has served as critical means for survival throughout his evolution. As a result of exposure to noise, physiological functions such as those involving structures of the auditory and non-auditory systems might be damaged. We have previously reported that noise-exposed developing rats elicited hippocampal-related histological, biochemical and behavioral changes. However, no data about the time lapse of these changes were reported. Moreover, measurements of auditory pathway function were not performed in exposed animals. Therefore, with the present work, we aim to test the onset and the persistence of the different extra-auditory abnormalities observed in noise-exposed rats and to evaluate auditory pathway integrity. Male Wistar rats of 15 days were exposed to moderate noise levels (95-97 dB SPL, 2 h a day) during one day (acute noise exposure, ANE) or during 15 days (sub-acute noise exposure, SANE). Hippocampal biochemical determinations as well as short (ST) and long term (LT) behavioral assessments were performed. In addition, histological and functional evaluations of the auditory pathway were carried out in exposed animals. Our results show that hippocampal-related behavioral and biochemical changes (impairments in habituation, recognition and associative memories as well as distortion of anxiety-related behavior, decreases in reactive oxygen species (ROS) levels and increases in antioxidant enzymes activities) induced by noise exposure were almost completely restored by PND 90. In addition, auditory evaluation shows that increased cochlear thresholds observed in exposed rats were re-established at PND 90, although with a remarkable supra-threshold amplitude reduction. These data suggest that noise-induced hippocampal and auditory-related alterations are mostly transient and that the effects of noise on the hippocampus might be, at least in part, mediated by the damage on the auditory pathway

  10. Abnormal Head Position

    Science.gov (United States)

    ... non-ocular causes of an abnormal head position? Congenital shortening of the neck muscles (sternocleidomastoid) can cause a head tilt. This is ... amblyopia) are other treatment alternatives. Physical therapy helps congenital torticollis from tight neck muscles. Updated ... Terms & Conditions Most Common ...

  11. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  12. Abnormal Uterine Bleeding

    OpenAIRE

    Benetti-Pinto, Cristina Laguna; Rosa-e-Silva, Ana Carolina Japur de Sá; Yela, Daniela Angerame; Soares Júnior,José Maria

    2017-01-01

    Abstract Abnormal uterine bleeding is a frequent condition in Gynecology. It may impact physical, emotional sexual and professional aspects of the lives of women, impairing their quality of life. In cases of acute and severe bleeding, women may need urgent treatment with volumetric replacement and prescription of hemostatic substances. In some specific cases with more intense and prolonged bleeding, surgical treatment may be necessary. The objective of this chapter is to describe the main evi...

  13. ORIGINAL ARTICLE EEG changes and neuroimaging abnormalities ...

    African Journals Online (AJOL)

    salah

    Ghada El-Kamah. E-mail: ghadaelkamah@hotmail.com. Key Words: Autism, MRI, EEG, brain develop- ment. INTRODUCTION. Autism is a neuropsychiatric disorder of social, cognitive and language development. Autism. Spectrum Disorders (ASDs). (OMIM 608638)1 are diagnosed on the basis of qualitative abnormalities ...

  14. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.

    Science.gov (United States)

    Brisset, Sophie; Slamova, Zuzana; Dusatkova, Petra; Briand-Suleau, Audrey; Milcent, Karen; Metay, Corinne; Simandlova, Martina; Sumnik, Zdenek; Tosca, Lucie; Goossens, Michel; Labrune, Philippe; Zemankova, Elsa; Lebl, Jan; Tachdjian, Gerard; Sedlacek, Zdenek

    2014-02-28

    Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases.

  15. Prenatal imaging of distal limb abnormalities using OCT in mice

    Science.gov (United States)

    Larina, Irina V.; Syed, Saba H.; Dickinson, Mary E.; Overbeek, Paul; Larin, Kirill V.

    2012-01-01

    Congenital abnormalities of the limbs are common birth defects. These include missing or extra fingers or toes, abnormal limb length, and abnormalities in patterning of bones, cartilage or muscles. Optical Coherence Tomography (OCT) is a 3-D imaging modality, which can produce high-resolution (~8 μm) images of developing embryos with an imaging depth of a few millimeters. Here we demonstrate the capability of OCT to perform 3D imaging of limb development in normal embryos and a mouse model with congenital abnormalities. Our results suggest that OCT is a promising tool to analyze embryonic limb development in mammalian models of congenital defects.

  16. Conduction abnormalities during dipyridamole stress testing.

    Science.gov (United States)

    Massalha, Samia; Reizberg, Ilya; Israel, Ora; Kapeliovich, Michael; Sholy, Haitham; Koskosi, Amjad; Keidar, Zohar; Marai, Ibrahim

    2017-04-01

    Pharmacological stress tests using dipyridamole are considered to be safe. However, cases of atrioventricular (AV) block have been reported. We retrospectively analyzed ECG at baseline and during dipyridamole stress tests of 2010 consecutive patients (patients with second or third degree AV block were excluded). At baseline, 350 (17.4%) patients had conduction abnormalities. Following dipyridamole infusion 16 patients (0.8%) developed a transient change in AV conduction (15 patients) and or sinus arrest (1 patient). Compared to patients without baseline conduction abnormalities, patients with any conduction abnormalities at baseline were at a higher risk for the development of AV block after dipyridamole infusion [0.3% vs 3.14%, respectively; P < .0001].

  17. Identifying abnormalities in symbiotic development between Trifolium spp. and Rhizobium leguminosarum bv. trifolii leading to sub-optimal and ineffective nodule phenotypes

    Science.gov (United States)

    Melino, V. J.; Drew, E. A.; Ballard, R. A.; Reeve, W. G.; Thomson, G.; White, R. G.; O'Hara, G. W.

    2012-01-01

    cells, bacteroid differentiation aborted prematurely, and a reduced pool of functional bacteroids which underwent premature senescence. We discuss possible underlying genetic causes of these developmental abnormalities and consider impacts on N2-fixation of clovers. PMID:22989463

  18. Abnormal uterine bleeding.

    Science.gov (United States)

    Whitaker, Lucy; Critchley, Hilary O D

    2016-07-01

    Abnormal uterine bleeding (AUB) is a common and debilitating condition with high direct and indirect costs. AUB frequently co-exists with fibroids, but the relationship between the two remains incompletely understood and in many women the identification of fibroids may be incidental to a menstrual bleeding complaint. A structured approach for establishing the cause using the Fédération International de Gynécologie et d'Obstétrique (FIGO) PALM-COEIN (Polyp, Adenomyosis, Leiomyoma, Malignancy (and hyperplasia), Coagulopathy, Ovulatory disorders, Endometrial, Iatrogenic and Not otherwise classified) classification system will facilitate accurate diagnosis and inform treatment options. Office hysteroscopy and increasing sophisticated imaging will assist provision of robust evidence for the underlying cause. Increased availability of medical options has expanded the choice for women and many will no longer need to recourse to potentially complicated surgery. Treatment must remain individualised and encompass the impact of pressure symptoms, desire for retention of fertility and contraceptive needs, as well as address the management of AUB in order to achieve improved quality of life. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  19. Evaluation of nail abnormalities.

    Science.gov (United States)

    Tully, Amber S; Trayes, Kathryn P; Studdiford, James S

    2012-04-15

    Knowledge of the anatomy and function of the nail apparatus is essential when performing the physical examination. Inspection may reveal localized nail abnormalities that should be treated, or may provide clues to an underlying systemic disease that requires further workup. Excessive keratinaceous material under the nail bed in a distal and lateral distribution should prompt an evaluation for onychomycosis. Onychomycosis may be diagnosed through potassium hydroxide examination of scrapings. If potassium hydroxide testing is negative for the condition, a nail culture or nail plate biopsy should be performed. A proliferating, erythematous, disruptive mass in the nail bed should be carefully evaluated for underlying squamous cell carcinoma. Longitudinal melanonychia (vertical nail bands) must be differentiated from subungual melanomas, which account for 50 percent of melanomas in persons with dark skin. Dystrophic longitudinal ridges and subungual hematomas are local conditions caused by trauma. Edema and erythema of the proximal and lateral nail folds are hallmark features of acute and chronic paronychia. Clubbing may suggest an underlying disease such as cirrhosis, chronic obstructive pulmonary disease, or celiac sprue. Koilonychia (spoon nail) is commonly associated with iron deficiency anemia. Splinter hemorrhages may herald endocarditis, although other causes should be considered. Beau lines can mark the onset of a severe underlying illness, whereas Muehrcke lines are associated with hypoalbuminemia. A pincer nail deformity is inherited or acquired and can be associated with beta-blocker use, psoriasis, onychomycosis, tumors of the nail apparatus, systemic lupus erythematosus, Kawasaki disease, and malignancy.

  20. Phenotype abnormality: 53 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 53 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u559i abnormal for trait of duration quality... of a process in organ named whole plant in period of organ development ... whole plant organ development ... abnormal ... duration quality of a process

  1. Phenotype abnormality: 68 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 68 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u574i abnormal for trait of morphology... in organ named stomatal complex during process named organ development ... stomatal complex ... abnormal ... organ development ... morphology

  2. Phenotype abnormality: 32 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 32 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u538i abnormal for trait of behavior...al quality during process named organ development ... abnormal ... organ development ... behavioral quality

  3. Phenotype abnormality: 45 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 45 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u551i abnormal for trait of behavior...al quality in organ named stamen during process named organ development ... stamen ... abnormal ... organ development ... behavioral quality

  4. Phenotype abnormality: 48 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 48 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u554i abnormal for trait of behavior...al quality in organ named vascular leaf during process named organ development ... vascular leaf ... abnormal ... organ development ... behavioral quality

  5. Phenotype abnormality: 44 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 44 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u550i abnormal for trait of behavior...al quality in organ named root during process named organ development ... root ... abnormal ... organ development ... behavioral quality

  6. Phenotype abnormality: 39 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 39 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u545i abnormal for trait of behavior...al quality in organ named flower during process named organ development ... flower ... abnormal ... organ development ... behavioral quality

  7. Phenotype abnormality: 37 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 37 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u543i abnormal for trait of behavior...al quality in organ named cotyledon during process named organ development ... cotyledon ... abnormal ... organ development ... behavioral quality

  8. Anatomical Network Comparison of Human Upper and Lower, Newborn and Adult, and Normal and Abnormal Limbs, with Notes on Development, Pathology and Limb Serial Homology vs. Homoplasy.

    Science.gov (United States)

    Diogo, Rui; Esteve-Altava, Borja; Smith, Christopher; Boughner, Julia C; Rasskin-Gutman, Diego

    2015-01-01

    How do the various anatomical parts (modules) of the animal body evolve into very different integrated forms (integration) yet still function properly without decreasing the individual's survival? This long-standing question remains unanswered for multiple reasons, including lack of consensus about conceptual definitions and approaches, as well as a reasonable bias toward the study of hard tissues over soft tissues. A major difficulty concerns the non-trivial technical hurdles of addressing this problem, specifically the lack of quantitative tools to quantify and compare variation across multiple disparate anatomical parts and tissue types. In this paper we apply for the first time a powerful new quantitative tool, Anatomical Network Analysis (AnNA), to examine and compare in detail the musculoskeletal modularity and integration of normal and abnormal human upper and lower limbs. In contrast to other morphological methods, the strength of AnNA is that it allows efficient and direct empirical comparisons among body parts with even vastly different architectures (e.g. upper and lower limbs) and diverse or complex tissue composition (e.g. bones, cartilages and muscles), by quantifying the spatial organization of these parts-their topological patterns relative to each other-using tools borrowed from network theory. Our results reveal similarities between the skeletal networks of the normal newborn/adult upper limb vs. lower limb, with exception to the shoulder vs. pelvis. However, when muscles are included, the overall musculoskeletal network organization of the upper limb is strikingly different from that of the lower limb, particularly that of the more proximal structures of each limb. Importantly, the obtained data provide further evidence to be added to the vast amount of paleontological, gross anatomical, developmental, molecular and embryological data recently obtained that contradicts the long-standing dogma that the upper and lower limbs are serial homologues

  9. Anatomical Network Comparison of Human Upper and Lower, Newborn and Adult, and Normal and Abnormal Limbs, with Notes on Development, Pathology and Limb Serial Homology vs. Homoplasy.

    Directory of Open Access Journals (Sweden)

    Rui Diogo

    Full Text Available How do the various anatomical parts (modules of the animal body evolve into very different integrated forms (integration yet still function properly without decreasing the individual's survival? This long-standing question remains unanswered for multiple reasons, including lack of consensus about conceptual definitions and approaches, as well as a reasonable bias toward the study of hard tissues over soft tissues. A major difficulty concerns the non-trivial technical hurdles of addressing this problem, specifically the lack of quantitative tools to quantify and compare variation across multiple disparate anatomical parts and tissue types. In this paper we apply for the first time a powerful new quantitative tool, Anatomical Network Analysis (AnNA, to examine and compare in detail the musculoskeletal modularity and integration of normal and abnormal human upper and lower limbs. In contrast to other morphological methods, the strength of AnNA is that it allows efficient and direct empirical comparisons among body parts with even vastly different architectures (e.g. upper and lower limbs and diverse or complex tissue composition (e.g. bones, cartilages and muscles, by quantifying the spatial organization of these parts-their topological patterns relative to each other-using tools borrowed from network theory. Our results reveal similarities between the skeletal networks of the normal newborn/adult upper limb vs. lower limb, with exception to the shoulder vs. pelvis. However, when muscles are included, the overall musculoskeletal network organization of the upper limb is strikingly different from that of the lower limb, particularly that of the more proximal structures of each limb. Importantly, the obtained data provide further evidence to be added to the vast amount of paleontological, gross anatomical, developmental, molecular and embryological data recently obtained that contradicts the long-standing dogma that the upper and lower limbs are

  10. Developmental abnormalities of mid and hindbrain

    African Journals Online (AJOL)

    Complete clinical evaluation, cytogenetic analysis and neuroradiological study were done for each patient. Patients' .... measurements (weight, height and head circumference) were assessed. Magnetic resonance imaging ..... developed abnormal kidneys or liver functions; however, regular monitor- ing of these functions is ...

  11. Enhanced monitoring of abnormal emergency department demands

    KAUST Repository

    Harrou, Fouzi

    2016-06-13

    This paper presents a statistical technique for detecting signs of abnormal situation generated by the influx of patients at emergency department (ED). The monitoring strategy developed was able to provide early alert mechanisms in the event of abnormal situations caused by abnormal patient arrivals to the ED. More specifically, This work proposed the application of autoregressive moving average (ARMA) models combined with the generalized likelihood ratio (GLR) test for anomaly-detection. ARMA was used as the modelling framework of the ARMA-based GLR anomaly-detection methodology. The GLR test was applied to the uncorrelated residuals obtained from the ARMA model to detect anomalies when the data did not fit the reference ARMA model. The ARMA-based GLR hypothesis testing scheme was successfully applied to the practical data collected from the database of the pediatric emergency department (PED) at Lille regional hospital center, France. © 2015 IEEE.

  12. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  13. Tooth - abnormal colors

    Science.gov (United States)

    ... or by a child during the time of tooth development can cause changes in the color and hardness ... be taken. Alternative Names ... MO: Elsevier; 2016:chap 2. Tinanoff N. Development and developmental anomalies of the teeth. In: Kliegman ...

  14. [Walking abnormalities in children].

    Science.gov (United States)

    Segawa, Masaya

    2010-11-01

    Walking is a spontaneous movement termed locomotion that is promoted by activation of antigravity muscles by serotonergic (5HT) neurons. Development of antigravity activity follows 3 developmental epochs of the sleep-wake (S-W) cycle and is modulated by particular 5HT neurons in each epoch. Activation of antigravity activities occurs in the first epoch (around the age of 3 to 4 months) as restriction of atonia in rapid eye movement (REM) stage and development of circadian S-W cycle. These activities strengthen in the second epoch, with modulation of day-time sleep and induction of crawling around the age of 8 months and induction of walking by 1 year. Around the age of 1 year 6 months, absence of guarded walking and interlimb cordination is observed along with modulation of day-time sleep to once in the afternoon. Bipedal walking in upright position occurs in the third epoch, with development of a biphasic S-W cycle by the age of 4-5 years. Patients with infantile autism (IA), Rett syndrome (RTT), or Tourette syndrome (TS) show failure in the development of the first, second, or third epoch, respectively. Patients with IA fail to develop interlimb coordination; those with RTT, crawling and walking; and those with TS, walking in upright posture. Basic pathophysiology underlying these condition is failure in restricting atonia in REM stage; this induces dysfunction of the pedunculopontine nucleus and consequently dys- or hypofunction of the dopamine (DA) neurons. DA hypofunction in the developing brain, associated with compensatory upward regulation of the DA receptors causes psychobehavioral disorders in infancy (IA), failure in synaptogenesis in the frontal cortex and functional development of the motor and associate cortexes in late infancy through the basal ganglia (RTT), and failure in functional development of the prefrontal cortex through the basal ganglia (TS). Further, locomotion failure in early childhood causes failure in development of functional

  15. The Biology Underlying Abnormalities of Tooth Number in Humans.

    Science.gov (United States)

    Juuri, E; Balic, A

    2017-10-01

    In past decades, morphologic, molecular, and cellular mechanisms that govern tooth development have been extensively studied. These studies demonstrated that the same signaling pathways regulate development of the primary and successional teeth. Mutations of these pathways lead to abnormalities in tooth development and number, including aberrant tooth shape, tooth agenesis, and formation of extra teeth. Here, we summarize the current knowledge on the development of the primary and successional teeth in animal models and describe some of the common tooth abnormalities in humans.

  16. Social and Biological Risk Factors for the Development of Physical Abnormalities in Infants with Perinatal Lesions of the Central Nervous System

    Directory of Open Access Journals (Sweden)

    L.A. Pykhtina

    2014-03-01

    Full Text Available We observed 448 children aged 1 to 3 years with perinatal lesions of the central nervous system (CNS of hypoxic-ischemic origin and mild to moderate severity. The objective of research — identification of social and biological risk factors of formation of low height and weight deficit in these children. As the result of undertaken study, we highlighted the risk factors and worked out formalized prognostic tables of weight deficit and low height development in infants with perinatal CNS lesions. It is found that biological factors are important for the formation of low height, whereas for the weight deficit — the combined effect of both biological and social factors.

  17. Role of serum abnormal prothrombin protein induced by vitamin K absence or antagonist-Ⅱ in development and progression of hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    LI Junli

    2017-01-01

    Full Text Available Early diagnosis of hepatocellular carcinoma (HCC using tumor markers is very important for long-term survival. This article elaborates on the value and high sensitivity and specificity of protein induced by vitamin K absence or antagonist-Ⅱ (PIVKA-Ⅱ in the early diagnosis, prognostic evaluation, and recurrence prediction of HCC. Its combination with alpha-fetoprotein can significantly increase the early diagnostic rate of HCC. It is pointed out that dynamic measurement of PIVKA-Ⅱ level can assist the correct evaluation of the development, progression, invasion/metastasis, and recurrence of HCC and can be used as an important marker for the prognosis of HCC.

  18. Diabetes mellitus and abnormal glucose tolerance development after gestational diabetes: A three-year, prospective, randomized, clinical-based, Mediterranean lifestyle interventional study with parallel groups.

    Science.gov (United States)

    Pérez-Ferre, Natalia; Del Valle, Laura; Torrejón, Maria José; Barca, Idoya; Calvo, María Isabel; Matía, Pilar; Rubio, Miguel A; Calle-Pascual, Alfonso L

    2015-08-01

    Women with prior gestational diabetes mellitus (GDM) have a high risk of developing type 2 diabetes mellitus (DM2) in later life. The study aim was to evaluate the efficacy of a lifestyle intervention for the prevention of glucose disorders (impaired fasting glucose, impaired glucose tolerance or DM2) in women with prior GDM. A total of 260 women with prior GDM who presented with normal fasting plasma glucose at six to twelve weeks postpartum were randomized into two groups: a Mediterranean lifestyle intervention group (n = 130) who underwent an educational program on nutrition and a monitored physical activity program and a control group (n = 130) with a conventional follow-up. A total of 237 women completed the three-year follow-up (126 in the intervention group and 111 in the control group). Their glucose disorders rates, clinical and metabolic changes and rates of adherence to the Mediterranean lifestyle were analyzed. Less women in the intervention group (42.8%) developed glucose disorders at the end of the three-year follow-up period compared with the control group (56.75%), p < 0.05. The multivariate analysis indicated a reduction in the rate of glucose disorders with a BMI of less than 27 kg/m(2) (OR 0.28; 0.12-0.65; p < 0.003), low fat intake pattern (OR 0.30; 0.13-0.70; p < 0.005), low saturated fat pattern (OR 0.30; 0.13-0.69; p < 0.005) and healthy fat pattern (OR 0.34; 0.12-0.94; p < 0.04). Lifestyle intervention was effective for the prevention of glucose disorders in women with prior GDM. Body weight gain and an unhealthy fat intake pattern were found to be the most predictive factors for the development of glucose disorders. Current Controlled trials: ISRCTN24165302. http://www.controlled-trials.com/isrctn/pf/24165302. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  19. Androgen receptor abnormalities

    NARCIS (Netherlands)

    A.O. Brinkmann (Albert); G.G.J.M. Kuiper (George); C. Ris-Stalpers (Carolyn); H.C.J. van Rooij (Henri); G. Romalo (G.); G. Trifiro (Gianluca); E. Mulder (Eppo); L. Pinsky (L.); H.U. Schweikert (H.); J. Trapman (Jan)

    1991-01-01

    markdownabstract__Abstract__ The human androgen receptor is a member of the superfamily of steroid hormone receptors. Proper functioning of this protein is a prerequisite for normal male sexual differentiation and development. The cloning of the human androgen receptor cDNA and the elucidation of

  20. Semen abnormalities with SSRI antidepressants.

    Science.gov (United States)

    2015-01-01

    Despite decades of widespread use, the adverse effect profile of "selective" serotonin reuptake inhibitor (SSRI) antidepressants has still not been fully elucidated. Studies in male animals have shown delayed sexual development and reduced fertility. Three prospective cohort studies conducted in over one hundred patients exposed to an SSRI for periods ranging from 5 weeks to 24 months found altered semen param-eters after as little as 3 months of exposure: reduced sperm concentration, reduced sperm motility, a higher percentage of abnormal spermatozoa, and increased levels of sperm DNA fragmentation. One clinical trial showed growth retardation in children considered depressed who were exposed to SSRls. SSRls may have endocrine disrupting properties. Dapoxetine is a short-acting serotonin reuptake inhibitor that is chemically related to fluoxetine and marketed in the European Union for men complaining of premature ejaculation. But the corresponding European summary of product characteristics does not mention any effects on fertility. In practice, based on the data available as of mid-2014, the effects of SSRI exposure on male fertility are unclear. However, it is a risk that should be taken into account and pointed out to male patients who would like to father a child or who are experiencing fertility problems.

  1. The Persistence of Abnormal Returns: Analysis of Polish Manufacturing Industry

    Directory of Open Access Journals (Sweden)

    Marcin Puziak

    2017-06-01

    Full Text Available The ultimate goal of a company is to build the enterprise value, which is achievable thanks to abnormal profits generated in particular period. Moreover, firms are expected to take measures to maintain abnormal profit in the future. On the other hand, abnormal profits attract competitors, who increase competition and as a result abnormal profits disappear. The persistence of profit is a term that describes a situation, when the company is successful in maintaining the abnormal profit over time. The main aim of this paper is to investigate the persistence of abnormal profit in Polish manufacturing sector. In other words, the question is whether Polish manufacturing companies are able to maintain their abnormal profits over time. The persistence of abnormal profits is investigated using dynamic panel model with generalized method-of-moments estimators. The method is applied to a panel of 5303 Polish companies from manufacturing sector observed over the period 2006-2014. This paper contributes to the existing literature in two ways. First, analysis is performed for developing country. Second, analysis is performed both at the level of entire sector and at division level. Three main conclusions can be drawn from the conducted research: there are significant differences between profit rates within the same industry at division level; estimated persistence of abnormal profit coefficients are at moderate level; there are substantial differences between estimated persistence of profit coefficients for divisions in the same industry.

  2. Dietary Omega-3 Fatty Acid Deficiency and High Fructose Intake in the Development of Metabolic Syndrome, Brain Metabolic Abnormalities, and Non-Alcoholic Fatty Liver Disease

    Directory of Open Access Journals (Sweden)

    Artemis P. Simopoulos

    2013-07-01

    Full Text Available Western diets are characterized by both dietary omega-3 fatty acid deficiency and increased fructose intake. The latter found in high amounts in added sugars such as sucrose and high fructose corn syrup (HFCS. Both a low intake of omega-3 fatty acids or a high fructose intake contribute to metabolic syndrome, liver steatosis or non-alcoholic fatty liver disease (NAFLD, promote brain insulin resistance, and increase the vulnerability to cognitive dysfunction. Insulin resistance is the core perturbation of metabolic syndrome. Multiple cognitive domains are affected by metabolic syndrome in adults and in obese adolescents, with volume losses in the hippocampus and frontal lobe, affecting executive function. Fish oil supplementation maintains proper insulin signaling in the brain, ameliorates NAFLD and decreases the risk to metabolic syndrome suggesting that adequate levels of omega-3 fatty acids in the diet can cope with the metabolic challenges imposed by high fructose intake in Western diets which is of major public health importance. This review presents the current status of the mechanisms involved in the development of the metabolic syndrome, brain insulin resistance, and NAFLD a most promising area of research in Nutrition for the prevention of these conditions, chronic diseases, and improvement of Public Health.

  3. Parenchymal abnormalities associated with developmental venous anomalies

    Energy Technology Data Exchange (ETDEWEB)

    San Millan Ruiz, Diego; Gailloud, Philippe [Johns Hopkins Hospital, Division of Interventional Neuroradiology, Baltimore, MD (United States); Delavelle, Jacqueline [Geneva University Hospital, Neuroradiology Section, Department of Radiology and Medical Informatics, Geneva (Switzerland); Yilmaz, Hasan; Ruefenacht, Daniel A. [Geneva University Hospital, Section of Interventional Neuroradiology, Department of Clinical Neurosciences, Geneva (Switzerland); Piovan, Enrico; Bertramello, Alberto; Pizzini, Francesca [Verona City Hospital, Service of Neuroradiology, Verona (Italy)

    2007-12-15

    To report a retrospective series of 84 cerebral developmental venous anomalies (DVAs), focusing on associated parenchymal abnormalities within the drainage territory of the DVA. DVAs were identified during routine diagnostic radiological work-up based on magnetic resonance imaging (MRI) (60 cases), computed tomography (CT) (62 cases) or both (36 cases). Regional parenchymal modifications within the drainage territory of the DVA, such as cortical or subcortical atrophy, white matter density or signal alterations, dystrophic calcifications, presence of haemorrhage or a cavernous-like vascular malformation (CVM), were noted. A stenosis of the collecting vein of the DVA was also sought for. Brain abnormalities within the drainage territory of a DVA were encountered in 65.4% of the cases. Locoregional brain atrophy occurred in 29.7% of the cases, followed by white matter lesions in 28.3% of MRI investigations and 19.3% of CT investigations, CVMs in 13.3% of MRI investigations and dystrophic calcification in 9.6% of CT investigations. An intracranial haemorrhage possibly related to a DVA occurred in 2.4% cases, and a stenosis on the collecting vein was documented in 13.1% of cases. Parenchymal abnormalities were identified for all DVA sizes. Brain parenchymal abnormalities were associated with DVAs in close to two thirds of the cases evaluated. These abnormalities are thought to occur secondarily, likely during post-natal life, as a result of chronic venous hypertension. Outflow obstruction, progressive thickening of the walls of the DVA and their morphological organization into a venous convergence zone are thought to contribute to the development of venous hypertension in DVA. (orig.)

  4. Spatial ontologies for detecting abnormal maritime behaviour

    OpenAIRE

    Vandecasteele, Arnaud; Napoli, Aldo

    2012-01-01

    International audience; The upsurge in piracy and the impact of recent environmental disasters have highlighted the need to improve maritime surveillance. Governmental and private initiatives have developed monitoring systems with improved acquisition and analysis capabilities. These systems rely on one major component, namely the detection of abnormal ship behaviour. This implies a detailed formalisation of expert knowledge. However, the quantity of data, the complexity of situations, the fa...

  5. Normal and abnormal torsional development in children.

    Science.gov (United States)

    Fabry, G; Cheng, L X; Molenaers, G

    1994-05-01

    This study presents findings in a series of 123 children with intoeing gait. The intoeing was caused by increased femoral anteversion (IFA) in 70% of the cases, and internal tibial torsion (ITT) in 30%. Rotation of the hips, thigh-foot angle, Q-angle, and computed tomography measured anteversion and tibial torsion divided the two groups very clearly. In the IFA group, 40.3% of the patients presented with an externally rotated tibia and 59.7% had an internally rotated tibia. In the ITT group, the anteversion was normal for age and the tibial torsion was significantly decreased. Eighty children who corrected their intoeing gait, and of whom 83.4% had IFA, were also reviewed: a decrease in anteversion was observed in 20.5% of the patients; 62.9% showed no decrease in anteversion.

  6. Abnormal tooth development in a sea lamprey

    Science.gov (United States)

    Manion, Patrick J.; Hanson, Lee H.

    1977-01-01

    Sea lampreys en route to their spawning grounds have been captured at mechanical or electrical structures that have been in operation for 1 to 27 spawning seasons (1949-75) on some 167 tributaries of the upper Great Lakes; more than 750,000 were taken in 1949-70 (Smith 1971). Among these lampreys (all of which were routinely examined at the time of capture) was one female (length, 434 mm; weight, 130 g) with markedly underdeveloped teeth. It was captured in May 1968 at an electrical barrier in the Ocqueoc River, a Michigan tributary of Lake Huron

  7. [Renal abnormalities in ankylosing spondylitis].

    Science.gov (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. Copyright © 2011 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  8. Abnormal glucose tolerance and lipid abnormalities in Indian ...

    African Journals Online (AJOL)

    quency of abnormal glucose tolerance (impaired glucose tole- rance and diabetes mellitus) in Indian patients with CAD is similar to that in White patients.9 However, with respect to the lipid profile there have been conflicting reports; hypercholeste- rolaemia was present in 37% ofthe series described by McKech- nie' and ...

  9. Background: Madelung's deformity is a congenital abnormality of the ...

    African Journals Online (AJOL)

    Background: Madelung's deformity is a congenital abnormality of the wrist caused by a disturbance of growth that retards the development of the ulnar and volar aspect of the distal radial physis, usually idiopathic, but can be associated with bone dysplas.

  10. Lentiginosis, Deafness and Cardiac Abnormalities*

    African Journals Online (AJOL)

    1973-01-06

    Jan 6, 1973 ... The familia:l form is milder. The cardiac lesion commonly consists of hypertrophic obstructive cardiomyopathy of either ventricle or abnor- malities of the ECG.' The obstructive lesion may be pro- gressive and cause cardiac failure. The ECG features include conduction abnormalities, such as left hemiblock,.

  11. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  12. Interpreting chromosomal abnormalities using Prolog.

    Science.gov (United States)

    Cooper, G; Friedman, J M

    1990-04-01

    This paper describes an expert system for interpreting the standard notation used to represent human chromosomal abnormalities, namely, the International System for Human Cytogenetic Nomenclature. Written in Prolog, this program is very powerful, easy to maintain, and portable. The system can be used as a front end to any database that employs cytogenetic notation, such as a patient registry.

  13. Admission haematological abnormalities and postoperative ...

    African Journals Online (AJOL)

    Admission haematological abnormalities and postoperative outcomes in neonates with acute surgical conditions in Alexandria, Egypt. HL Wella, SMM Farahat. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals ...

  14. Normal and abnormal skin color.

    Science.gov (United States)

    Ortonne, J P

    2012-12-01

    The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma corresponds to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  15. [Normal and abnormal skin color].

    Science.gov (United States)

    Ortonne, J-P

    2012-11-01

    The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma correspond to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  16. Goldenhar syndrome and urogenital abnormalities

    Directory of Open Access Journals (Sweden)

    Mohan Marulaiah

    2003-01-01

    Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

  17. Percutaneous nephrolithotomy in patients with urinary tract abnormalities.

    Science.gov (United States)

    Violette, Philippe D; Dion, Marie; Tailly, Thomas; Denstedt, John D; Razvi, Hassan

    2014-12-01

    Patients with urinary tract abnormalities are at an increased risk of stone formation. Percutaneous nephrolithotomy (PCNL) plays an important role in the treatment of this patient population; however, outcomes are less well defined compared with patients with normal urinary tract anatomy. Our objective was to evaluate the influence of urinary tract abnormalities on intraoperative and postoperative outcomes with PCNL. We report on a single-center prospective database of 2284 consecutive PCNLs in 1935 patients from 1990 to 2012. For the purposes of this analysis, patients were categorized by the presence or absence of a urinary tract abnormality. Multivariable analyses were used to identify independent predictors of the length of hospital stay, operative time, complications, and residual stones at discharge and 3 months. A urinary tract abnormality was present in 14.4% (n=330) of the cohort. On univariable analysis, patients with urinary tract abnormalities were more likely to present with urinary tract infection (28% vs 19%, Purinary tract abnormality was predictive of residual stone at discharge, need for a secondary procedure, but did not increase the risk of residual stone at 3 months or the development of complications. Operative time and hospital stay were only moderately prolonged. Patients with urinary tract abnormalities who undergo PCNL have a higher risk of residual stones at discharge and need for secondary procedures, but comparable complication rates, operative time, and hospital stay.

  18. Torpedo maculopathy: A primary choroidal capillary abnormality?

    Directory of Open Access Journals (Sweden)

    Rohan Chawla

    2018-01-01

    Full Text Available A 26-year-old healthy male patient's fundus revealed findings consistent with torpedo maculopathy. Swept-source optical coherence tomography (OCT showed a dome-shaped elevation of the retina at the level of ellipsoid zone. On OCT angiography segmented at the level of the choriocapillaris, a cluster of convoluted fine vessels was seen, and further, deeper scans of the larger choroidal vessels showed a slower flow. From these observations along with the embryological correlation of choriocapillaris development, a possibility of an abnormality preventing proper fenestration of the choriocapillaris along the horizontal raphe being responsible for this anomaly is suggested.

  19. Factors associated with abnormal spirometry among HIV-infected individuals.

    Science.gov (United States)

    Drummond, M Bradley; Huang, Laurence; Diaz, Philip T; Kirk, Gregory D; Kleerup, Eric C; Morris, Alison; Rom, William; Weiden, Michael D; Zhao, Enxu; Thompson, Bruce; Crothers, Kristina

    2015-08-24

    HIV-infected individuals are susceptible to development of chronic lung diseases, but little is known regarding the prevalence and risk factors associated with different spirometric abnormalities in this population. We sought to determine the prevalence, risk factors and performance characteristics of risk factors for spirometric abnormalities among HIV-infected individuals. Cross-sectional cohort study. We analyzed cross-sectional US data from the NHLBI-funded Lung-HIV consortium - a multicenter observational study of heterogeneous groups of HIV-infected participants in diverse geographic sites. Logistic regression analysis was performed to determine factors statistically significantly associated with spirometry patterns. A total of 908 HIV-infected individuals were included. The median age of the cohort was 50 years, 78% were men and 68% current smokers. An abnormal spirometry pattern was present in 37% of the cohort: 27% had obstructed and 10% had restricted spirometry patterns. Overall, age, smoking status and intensity, history of Pneumocystis infection, asthma diagnosis and presence of respiratory symptoms were independently associated with an abnormal spirometry pattern. Regardless of the presence of respiratory symptoms, five HIV-infected participants would need to be screened with spirometry to diagnose two individuals with any abnormal spirometry pattern. Nearly 40% of a diverse US cohort of HIV-infected individuals had an abnormal spirometry pattern. Specific characteristics including age, smoking status, respiratory infection history and respiratory symptoms can identify those at risk for abnormal spirometry. The high prevalence of abnormal spirometry and the poor predictive capability of respiratory symptoms to identify abnormal spirometry should prompt clinicians to consider screening spirometry in HIV-infected populations.

  20. An APC:WNT counter-current-like mechanism regulates cell division along the colonic crypt axis: a mechanism that explains how APC mutations induce proliferative abnormalities that drive colon cancer development.

    Directory of Open Access Journals (Sweden)

    Bruce M Boman

    2013-11-01

    Full Text Available APC normally down-regulates WNT signaling in human colon, and APC mutations cause proliferative abnormalities in premalignant crypts leading to colon cancer, but the mechanisms are unclear at the level of spatial and functional organization of the crypt. Accordingly, we postulated a counter-current-like mechanism based on gradients of factors (APC;WNT that regulate colonocyte proliferation along the crypt axis. During crypt renewal, stem cells (SCs at the crypt bottom generate non-SC daughter cells that proliferate and differentiate while migrating upwards. The APC concentration is low at the crypt bottom and high at the top (where differentiated cells reside. WNT signaling, in contrast, is high at the bottom (where SCs reside and low at the top. Given that WNT and APC gradients are counter to one another, we hypothesized that a counter-current-like mechanism exists. Since both APC and WNT signaling components (e.g. survivin are required for mitosis, this mechanism establishes a zone in the lower crypt where conditions are optimal for maximal cell division and mitosis orientation (symmetric versus asymmetric. APC haploinsufficiency diminishes the APC gradient, shifts the proliferative zone upwards, and increases symmetric division, which causes SC overpopulation. In homozygote mutant crypts, these changes are exacerbated. Thus, APC-mutation-induced changes in the counter-current-like mechanism cause expansion of proliferative populations (SCs, rapidly-proliferating cells during tumorigenesis. We propose this mechanism also drives crypt fission, functions in the crypt cycle, and underlies adenoma development. Novel chemoprevention approaches designed to normalize the two gradients and readjust the proliferative zone downwards, might thwart progression of these premalignant changes.

  1. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  2. Vitamin D and Risk of Neuroimaging Abnormalities.

    Directory of Open Access Journals (Sweden)

    Thomas J Littlejohns

    Full Text Available Vitamin D deficiency has been linked with an increased risk of incident all-cause dementia and Alzheimer's disease. The aim of the current study was to explore the potential mechanisms underlying these associations by determining whether low vitamin D concentrations are associated with the development of incident cerebrovascular and neurodegenerative neuroimaging abnormalities. The population consisted of 1,658 participants aged ≥65 years from the US-based Cardiovascular Health Study who were free from prevalent cardiovascular disease, stroke and dementia at baseline in 1992-93. Serum 25-hydroxyvitamin D (25(OHD concentrations were determined by liquid chromatography-tandem mass spectrometry from blood samples collected at baseline. The first MRI scan was conducted between 1991-1994 and the second MRI scan was conducted between 1997-1999. Change in white matter grade, ventricular grade and presence of infarcts between MRI scan one and two were used to define neuroimaging abnormalities. During a mean follow-up of 5.0 years, serum 25(OHD status was not significantly associated with the development of any neuroimaging abnormalities. Using logistic regression models, the multivariate adjusted odds ratios (95% confidence interval for worsening white matter grade in participants who were severely 25(OHD deficient (<25 nmol/L and deficient (≥25-50 nmol/L were 0.76 (0.35-1.66 and 1.09 (0.76-1.55 compared to participants with sufficient concentrations (≥50 nmol/L. The multivariate adjusted odds ratios for ventricular grade in participants who were severely 25(OHD deficient and deficient were 0.49 (0.20-1.19 and 1.12 (0.79-1.59 compared to those sufficient. The multivariate adjusted odds ratios for incident infarcts in participants who were severely 25(OHD deficient and deficient were 1.95 (0.84-4.54 and 0.73 (0.47-1.95 compared to those sufficient. Overall, serum vitamin D concentrations could not be shown to be associated with the development of

  3. Incidence of abnormal liver biochemical tests in hyperthyroidism.

    Science.gov (United States)

    Lin, Tiffany Y; Shekar, Anshula O; Li, Ning; Yeh, Michael W; Saab, Sammy; Wilson, Mark; Leung, Angela M

    2017-05-01

    Abnormal serum liver function tests are common in patients with untreated thyrotoxicosis, even prior to the initiation of antithyroidal medications that may worsen the severity of the abnormal serum liver biochemistries. There is a wide range of the incidence of these abnormalities in the published literature. The aim of this study was to assess the risks factors and threshold of thyrotoxicosis severity for developing an abnormal liver biochemical test upon the diagnosis of new thyrotoxicosis. Single-institution retrospective cohort study. Patients of ≥18 years old receiving medical care at a large, academic, urban US medical centre between 2002-2016. Inclusion criteria were a serum thyroid stimulating hormone (TSH) concentration of biochemical test(s) within 6 months of thyrotoxicosis. The biochemical liver tests assessed were serum aspartate transaminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (AP), gamma-glutamyltransferase (GGT), total bilirubin, and conjugated bilirubin concentrations. In this cohort of 1514 subjects, the overall incidence of any biochemical liver test abnormality within 6 months of thyrotoxicosis was 39%. An initial serum TSH concentration biochemical test within 6 months of the diagnosis of new-onset untreated thyrotoxicosis. This study identifies risk factors for patients who develop an abnormal serum liver biochemical test result within 6 months of a diagnosis of untreated thyrotoxicosis. © 2017 John Wiley & Sons Ltd.

  4. Abnormal thermography in Parkinson's disease.

    Science.gov (United States)

    Antonio-Rubio, I; Madrid-Navarro, C J; Salazar-López, E; Pérez-Navarro, M J; Sáez-Zea, C; Gómez-Milán, E; Mínguez-Castellanos, A; Escamilla-Sevilla, F

    2015-08-01

    An autonomic denervation and abnormal vasomotor reflex in the skin have been described in Parkinson's disease (PD) and might be evaluable using thermography with cold stress test. A cross-sectional pilot study was undertaken in 35 adults: 15 patients with PD and abnormal [(123)I]-metaiodobenzylguanidine cardiac scintigraphy and 20 healthy controls. Baseline thermography of both hands was obtained before immersing one in cold water (3 ± 1 °C) for 2 min. Continuous thermography was performed in: non-immersed hand (right or with lesser motor involvement) during immersion of the contralateral hand and for 6 min afterward; and contralateral immersed hand for 6 min post-immersion. The region of interest was the dorsal skin of the third finger, distal phalanx. PD patients showed a lower mean baseline hand temperature (p = 0.037) and greater thermal difference between dorsum of wrist and third finger (p = 0.036) and between hands (p = 0.0001) versus controls, regardless of the motor laterality. Both tests evidenced an adequate capacity to differentiate between groups: in the non-immersed hand, the PD patients did not show the normal cooling pattern or final thermal overshoot observed in controls (F = 5.29; p = 0.001), and there was an AUC of 0.897 (95%CI 0.796-0.998) for this cooling; in the immersed hand, thermal recovery at 6 min post-immersion was lesser in patients (29 ± 17% vs. 55 ± 28%, p = 0.002), with an AUC of 0.810 (95%CI 0.662-0.958). PD patients reveal abnormal skin thermal responses in thermography with cold stress test, suggesting cutaneous autonomic dysfunction. This simple technique may be useful to evaluate autonomic dysfunction in PD. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Abnormal visuomotor processing in schizophrenia

    Directory of Open Access Journals (Sweden)

    Siân E. Robson

    2016-01-01

    Full Text Available Subtle disturbances of visual and motor function are known features of schizophrenia and can greatly impact quality of life; however, few studies investigate these abnormalities using simple visuomotor stimuli. In healthy people, electrophysiological data show that beta band oscillations in sensorimotor cortex decrease during movement execution (event-related beta desynchronisation (ERBD, then increase above baseline for a short time after the movement (post-movement beta rebound (PMBR; whilst in visual cortex, gamma oscillations are increased throughout stimulus presentation. In this study, we used a self-paced visuomotor paradigm and magnetoencephalography (MEG to contrast these responses in patients with schizophrenia and control volunteers. We found significant reductions in the peak-to-peak change in amplitude from ERBD to PMBR in schizophrenia compared with controls. This effect was strongest in patients who made fewer movements, whereas beta was not modulated by movement in controls. There was no significant difference in the amplitude of visual gamma between patients and controls. These data demonstrate that clear abnormalities in basic sensorimotor processing in schizophrenia can be observed using a very simple MEG paradigm.

  6. Lower Extremity Abnormalities in Children.

    Science.gov (United States)

    Rerucha, Caitlyn M; Dickison, Caleb; Baird, Drew C

    2017-08-15

    Leg and foot problems in childhood are common causes of parental concern. Rotational problems include intoeing and out-toeing. Intoeing is most common in infants and young children. Intoeing is caused by metatarsus adductus, internal tibial torsion, and femoral anteversion. Out-toeing is less common than intoeing and occurs more often in older children. Out-toeing is caused by external tibial torsion and femoral retroversion. Angular problems include genu varum (bowleg) and genu valgum (knock knee). With pes planus (flatfoot), the arch of the foot is usually flexible rather than rigid. A history and physical examination that include torsional profile tests and angular measurements are usually sufficient to evaluate patients with lower extremity abnormalities. Most children who present with lower extremity problems have normal rotational and angular findings (i.e., within two standard deviations of the mean). Lower extremity abnormalities that are within normal measurements resolve spontaneously as the child grows. Radiologic studies are not routinely required, except to exclude pathologic conditions. Orthotics are not beneficial. Orthopedic referral is often not necessary. Rarely, surgery is required in patients older than eight years who have severe deformities that cause dysfunction.

  7. The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas

    Science.gov (United States)

    Smith, H B; Verity, D H; Collin, J R O

    2015-01-01

    Purpose To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities. Methods An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005. Results Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). About a third (29%) were an isolated finding, with the remainder associated with other ocular (62%) and/or craniofacial (53%) abnormalities. Of those with ocular abnormalities; 19 (56%) had conjunctival traction bands, 16 (47%) choristomas, and 8 (24%) an abnormal globe. Of those with craniofacial abnormalities; 13 (45%) had Goldenhar Syndrome, 10 (35%) clefting disorders, and 4 (14%) Fraser Syndrome. Clefting disorders were typically associated with more severe colobomas and a higher incidence of conjunctival traction bands, first arch syndromes with smaller colobomas and more choristomas. Overall large colobomas were significantly associated with the presence of other craniofacial defects compared with small colobomas (P<0.01, χ2), but coloboma size did not correspond with the presence of other ocular abnormalities. Conclusions Coloboma size, location, and associations in this series are consistent with our current understanding of eyelid embryogenesis. It is likely that those colobomas associated with other craniofacial and ocular abnormalities are those which result from errors earlier in embryogenesis during eyelid specification, growth, and closure, whereas isolated colobomas arise later during eyelid separation, and after codependent structures have developed. PMID:25613848

  8. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  9. Epilepsy and chromosome 18 abnormalities: A review.

    Science.gov (United States)

    Verrotti, Alberto; Carelli, Alessia; di Genova, Lorenza; Striano, Pasquale

    2015-11-01

    To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies. A careful overview of recent works concerning chromosome 18 aberrations and epilepsy has been carried out considering the major groups of chromosomal 18 aberrations, identified using MEDLINE and EMBASE database from 1980 to 2015. Epilepsy seems to be particularly frequent in patients with trisomy or duplication of chromosome 18 with a prevalence of up to 65%. Approximately, over half of the patients develop epilepsy during the first year of life. Epilepsy can be focal or generalized; infantile spasms have also been reported. Brain imagines showed anatomical abnormalities in 38% of patients. Some antiepileptic drugs as valproic acid and carbamazepine were useful for treating seizures although a large majority of patients need polytherapy. Children with chromosomal 18 abnormalities can present different types of epilepsy, more frequently focal seizures in individuals with 18q- deletion syndrome, while both complex partial seizures and generalized tonic-clonic seizures have been described in patients who suffer for trisomy 18. Outcome in term of seizures frequency and duration seems to be variable and epilepsy is drug resistant in half of the children, especially in children with trisomy 18 and generalized epilepsy. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  10. [Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome].

    Science.gov (United States)

    Chang, Qingxian; Chen, Cuihua; Zhong, Mei; Qiu, Yuwen; Xiao, Chaoqun; Huang, Qitao; Yu, Yanhong

    2013-03-01

    To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes. From January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes. Of all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score. Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.

  11. Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter and Partial Monosomy 13q (13q33.3→qter Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-09-01

    Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array-based comparative genomic hybridization are useful for prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 7p (7p15.3→pter and partial monosomy 13q (13q33.3→qter can be associated with DWM, microcephaly, abnormal skull development, nuchal edema and cardiovascular defects on prenatal ultrasound.

  12. Chromosomal abnormalities in child psychiatric patients.

    OpenAIRE

    Hong, K. E.; Kim, J. H.; Moon, S. Y.; Oh, S. K.

    1999-01-01

    To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results from karyotyping. Chromosomal abnormalities were found in 69 patients (11.3%); these were structural in...

  13. Models of Neurodevelopmental Abnormalities in Schizophrenia

    Science.gov (United States)

    Powell, Susan B.

    2013-01-01

    The neurodevelopmental hypothesis of schizophrenia asserts that the underlying pathology of schizophrenia has its roots in brain development and that these brain abnormalities do not manifest themselves until adolescence or early adulthood. Animal models based on developmental manipulations have provided insight into the vulnerability of the developing fetus and the importance of the early environment for normal maturation. These models have provided a wide range of validated approaches to answer questions regarding environmental influences on both neural and behavioral development. In an effort to better understand the developmental hypothesis of schizophrenia, animal models have been developed, which seek to model the etiology and/or the pathophysiology of schizophrenia or specific behaviors associated with the disease. Developmental models specific to schizophrenia have focused on epidemiological risk factors (e.g., prenatal viral insult, birth complications) or more heuristic models aimed at understanding the developmental neuropathology of the disease (e.g., ventral hippocampal lesions). The combined approach of behavioral and neuroanatomical evaluation of these models strengthens their utility in improving our understanding of the pathophysiology of schizophrenia and developing new treatment strategies. PMID:21312409

  14. [Cognitive abnormalities and cannabis use].

    Science.gov (United States)

    Solowij, Nadia; Pesa, Nicole

    2010-05-01

    Evidence that cannabis use impairs cognitive function in humans has been accumulating in recent decades. The purpose of this overview is to update knowledge in this area with new findings from the most recent literature. Literature searches were conducted using the Web of Science database up to February 2010. The terms searched were: "cannabi*" or "marijuana", and "cogniti*" or "memory" or "attention" or "executive function", and human studies were reviewed preferentially over the animal literature. Cannabis use impairs memory, attention, inhibitory control, executive functions and decision making, both during the period of acute intoxication and beyond, persisting for hours, days, weeks or more after the last use of cannabis. Pharmacological challenge studies in humans are elucidating the nature and neural substrates of cognitive changes associated with various cannabinoids. Long-term or heavy cannabis use appears to result in longer-lasting cognitive abnormalities and possibly structural brain alterations. Greater adverse cognitive effects are associated with cannabis use commencing in early adolescence. The endogenous cannabinoid system is involved in regulatory neural mechanisms that modulate processes underlying a range of cognitive functions that are impaired by cannabis. Deficits in human users most likely therefore reflect neuroadaptations and altered functioning of the endogenous cannabinoid system.

  15. Red cell membrane transport abnormalities.

    Science.gov (United States)

    Bruce, Lesley J

    2008-05-01

    The present review describes the red cell transport abnormalities of proteins of the band 3 macrocomplex. The macrocomplex is involved in red cell gas exchange and recent findings have furthered our understanding of this process. Study of a novel band 3 hereditary spherocytosis variant suggests that expression of mutant band 3 protein can be rescued by wild-type band 3. Other studies show that some mutant band 3 protein can mediate a cation conductance. Recent work suggests both Rh-associated glycoprotein and aquaporin act as gas channels confirming the integrated function of the macrocomplex and the importance of its role in red cell gas transport. The most recent studies on band 3-induced hereditary spherocytosis are reviewed and an explanation for the mild phenotype of heterozygous hereditary spherocytosis is discussed. A number of red cell conditions (hereditary stomatocytosis, south-east Asian ovalocytosis, distal renal tubular acidosis, Rhnull), associated with both stomatocytosis and a cation leak, are described. The evidence that Rh-associated glycoprotein forms a gas channel that transports CO2 and/or NH3 is reviewed and discussed, together with recent studies that show that aquaporin 1 transports both CO2 and O2.

  16. Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation.

    Science.gov (United States)

    Sever, Matjaz; Kantarjian, Hagop; Pierce, Sherry; Jain, Nitin; Estrov, Zeev; Cortes, Jorge; Verstovsek, Srdan

    2009-11-01

    Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.

  17. Placental Abnormalities and Preeclampsia in Trisomy 13 Pregnancies

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-03-01

    Full Text Available Women who are carrying a trisomy 13 fetus are prone to have an abnormal placenta as well as to develop preeclampsia in the second and third trimesters. This article provides a comprehensive review of placental abnormalities, such as small placental volume, reduced placental vascularization, a partial molar appearance of the placenta and placental mesenchymal dysplasia, and preeclampsia associated with trisomy 13 pregnancies. The candidate preeclampsia-causing genes on chromosome 13, such as sFlt1, COL4A2 and periostin, are discussed.

  18. Is Abnormal Urine Protein/Osmolality Ratio Associated with Abnormal Renal Function in Patients Receiving Tenofovir Disoproxil Fumarate?

    Directory of Open Access Journals (Sweden)

    Jasmine R Marcelin

    Full Text Available Risk factors for and optimal surveillance of renal dysfunction in patients on tenofovir disoproxil fumarate (TDF remain unclear. We investigated whether a urine protein-osmolality (P/O ratio would be associated with renal dysfunction in HIV-infected persons on TDF.This retrospective, single-center study investigated the relationship between parameters of renal function (estimated glomerular filtration rate (eGFR and P/O-ratio and risk factors for development of kidney dysfunction. Subjects were HIV-infected adults receiving TDF with at least one urinalysis and serum creatinine performed between 2010 and 2013. Regression analyses were used to analyze risk factors associated with abnormal P/O-ratio and abnormal eGFR during TDF therapy.Patients were predominately male (81%; (65% were Caucasian. Mean age was 45.1(±11.8 years; median [IQR] TDF duration was 3.3 years. [1.5-7.6]. Median CD4+ T cell count and HIV viral load were 451 cells/μL [267.5-721.5] and 62 copies/mL [0-40,150], respectively. Abnormal P/O-ratio was not associated with low eGFR. 68% of subjects had an abnormal P/O-ratio and 9% had low eGFR. Duration of TDF use, age, diabetes and hypertension were associated with renal dysfunction in this study. After adjustment for age, subjects on TDF > 5 years had almost a four-fold increased likelihood of having an abnormal P/O-ratio than subjects on TDF for < 1yr (OR 3.9; 95% CI 1.2-14.0; p = 0.024.Abnormal P/O-ratio is common in HIV-infected patients on TDF but was not significantly associated with low eGFR, suggesting that abnormal P/O-ratio may be a very early biomarker of decreased renal function in HIV infected patients.

  19. Serum lipid profile abnormalities among patients with nephrotic ...

    African Journals Online (AJOL)

    McRoy

    massive proteinuria. There is a variable tendency towards developing edema, hypoalbuminemia and hyperlipidaemia.[1] The severity of lipid abnormalities also .... 150±17. 57±19. **. VLDL-C. 42±6.0. 31±3.0. *. ** Significant, *not significant. Table 2: Atherogenic index (AI), coronary risk index (CRI) and non-HDL-C ...

  20. Microalbuminuria and its relations with serum lipid abnormalities in ...

    African Journals Online (AJOL)

    Microalbuminuria has been well recognized as a marker of endothelial dysfunction in HBP.[7,31] However, the serum lipid abnormalities may precede and possibly be responsible for the development of MA.[26] It is known that cholesterol-rich diet may cause albuminuria and glomerulosclerosis, and pharmacological agents.

  1. Abnormal Vestibulo-Ocular Reflexes in Autism: A Potential Endophenotype

    Science.gov (United States)

    2014-08-01

    children with hearing-impairment, VOR abnormalities appear to be an important predictor of impairment in motor performance (De Kegel et al., 2012...430. De Kegel , A., Maes, L., Baetens, T., Dhooge, I., and Van Waelvelde, H. (2012). The Influence of a Vestibular Dysfunction on the Motor Development

  2. Intracranial abnormalities in infantile esotropia detected by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kori, Yoshifumi [Kochi Prefectural Central Hospital (Japan); Hasebe, Satoru; Otsuki, Hiroshi; Matsuo, Nobuhiko; Sei, Tetsuro

    1996-10-01

    Twenty-one cases of infantile esotropia were examined for possible intracranial abnormalities by magnetic resonance imaging, MRI. Subnormal findings, which did not seem to be related to the development of infantile esotropia, were detected in 3 cases, 14%. All the three cases had a history of ischemic episodes during the perinatal period. (author)

  3. Secondary Abnormalities of Neurotransmitters in Infants with Neurological Disorders

    Science.gov (United States)

    Garcia-Cazorla, A.; Serrano, M.; Perez-Duenas, B.; Gonzalez, V.; Ormazabal, A.; Pineda, M.; Fernandez-Alvarez, E.; Campistol, J. M. D.; Artuch, R. M. D.

    2007-01-01

    Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants…

  4. Attitude of Nigerian women to abnormal menstrual bleeding from ...

    African Journals Online (AJOL)

    Background: Depot Medroxyprogesterone acetate (DMPA) and Norethisterone Enanthate (Net-En) are frequently used progestogen-only injectable contraceptives in many developing countries including Nigeria. Their use is often complicated by abnormal and unpredictable menstrual bleeding patterns. This has often been ...

  5. Characterization of the Antheraea pernyi abnormal wing disc gene ...

    African Journals Online (AJOL)

    It has been known that the abnormal wing disc (awd) gene encodes a nucleoside diphosphate kinase and is closely related to wing development in Drosophila melanogaster and Bombyx mori. In the present study, the awd gene was isolated and characterized from Antheraea pernyi, a well-known wild silkmoth. The isolated ...

  6. Lung function abnormalities in children with type I diabetes

    NARCIS (Netherlands)

    van Gent, R; Brackel, HJL; de Vroede, M; van der Ent, CK

    2002-01-01

    Recent developments in intrabronchial administration of insulin raise lung function in patients with type I diabetes as important issue. Several studies in adults report abnormalities of lung function of these patients, The aim of this study was to investigate lung function in children with type I

  7. Serial cerebral CT abnormalities in relapsing acute disseminated encephalomyelitis.

    Science.gov (United States)

    Walker, R W; Gawler, J

    1989-01-01

    A 7 year old girl developed acute disseminated encephalomyelitis following a Mycoplasma pneumoniae respiratory infection. The illness followed a relapsing course during the first two months. Computed tomography (CT) showed cerebral lesions of a severity and extent out of proportion to the clinical manifestations. The CT abnormalities altered with changes in her clinical state. Images PMID:2795082

  8. Abnormal compression wood in Pinus taeda : a review of current ...

    African Journals Online (AJOL)

    Abnormal compression wood in P. taeda stands was first discovered in the early 1980s. Since then several research projects and surveys have been carried out in order to develop a better understanding of the problem and to try to find a solution. Currently a large proportion of the sawmill intake of logs in the Mpumalanga ...

  9. Cortical gyrification is abnormal in children with prenatal alcohol exposure

    Directory of Open Access Journals (Sweden)

    Timothy J. Hendrickson

    2017-01-01

    Conclusions: Abnormalities in cortical development were seen across the brain in children with PAE compared to controls. Cortical gyrification and IQ were strongly correlated, suggesting that examining mechanisms by which alcohol disrupts cortical formation may yield clinically relevant insights and potential directions for early intervention.

  10. Altered fetal growth, placental abnormalities, and stillbirth.

    Science.gov (United States)

    Bukowski, Radek; Hansen, Nellie I; Pinar, Halit; Willinger, Marian; Reddy, Uma M; Parker, Corette B; Silver, Robert M; Dudley, Donald J; Stoll, Barbara J; Saade, George R; Koch, Matthew A; Hogue, Carol; Varner, Michael W; Conway, Deborah L; Coustan, Donald; Goldenberg, Robert L

    2017-01-01

    Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth. Population-based case-control study of all stillbirths and a representative sample of live births in 59 hospitals in 5 geographic areas in the U.S. Fetal growth abnormalities were categorized as small (90th percentile) for gestational age at death (stillbirth) or delivery (live birth) using a published algorithm. Placental examination by perinatal pathologists was performed using a standardized protocol. Data were weighted to account for the sampling design. Among 319 singleton stillbirths and 1119 singleton live births at ≥24 weeks at death or delivery respectively, 25 placental findings were investigated. Fifteen findings were significantly associated with stillbirth. Ten of the 15 were also associated with fetal growth abnormalities (single umbilical artery; velamentous insertion; terminal villous immaturity; retroplacental hematoma; parenchymal infarction; intraparenchymal thrombus; avascular villi; placental edema; placental weight; ratio birth weight/placental weight) while 5 of the 15 associated with stillbirth were not associated with fetal growth abnormalities (acute chorioamnionitis of placental membranes; acute chorioamionitis of chorionic plate; chorionic plate vascular degenerative changes; perivillous, intervillous fibrin, fibrinoid deposition; fetal vascular thrombi in the chorionic plate). Five patterns were observed: placental findings associated with (1) stillbirth but not fetal growth abnormalities; (2) fetal growth abnormalities in stillbirths only; (3) fetal growth abnormalities in live births only; (4) fetal growth abnormalities in stillbirths and live births in a similar manner; (5) a different pattern of fetal growth abnormalities in

  11. Altered fetal growth, placental abnormalities, and stillbirth.

    Directory of Open Access Journals (Sweden)

    Radek Bukowski

    Full Text Available Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth.Population-based case-control study of all stillbirths and a representative sample of live births in 59 hospitals in 5 geographic areas in the U.S. Fetal growth abnormalities were categorized as small (90th percentile for gestational age at death (stillbirth or delivery (live birth using a published algorithm. Placental examination by perinatal pathologists was performed using a standardized protocol. Data were weighted to account for the sampling design. Among 319 singleton stillbirths and 1119 singleton live births at ≥24 weeks at death or delivery respectively, 25 placental findings were investigated. Fifteen findings were significantly associated with stillbirth. Ten of the 15 were also associated with fetal growth abnormalities (single umbilical artery; velamentous insertion; terminal villous immaturity; retroplacental hematoma; parenchymal infarction; intraparenchymal thrombus; avascular villi; placental edema; placental weight; ratio birth weight/placental weight while 5 of the 15 associated with stillbirth were not associated with fetal growth abnormalities (acute chorioamnionitis of placental membranes; acute chorioamionitis of chorionic plate; chorionic plate vascular degenerative changes; perivillous, intervillous fibrin, fibrinoid deposition; fetal vascular thrombi in the chorionic plate. Five patterns were observed: placental findings associated with (1 stillbirth but not fetal growth abnormalities; (2 fetal growth abnormalities in stillbirths only; (3 fetal growth abnormalities in live births only; (4 fetal growth abnormalities in stillbirths and live births in a similar manner; (5 a different pattern of fetal growth

  12. Identification of Abnormal Stem Cells Using Raman Spectroscopy

    DEFF Research Database (Denmark)

    Harkness, Linda; Novikov, Sergey M; Beermann, Jonas

    2012-01-01

    The clinical use of stem cells in cell-based therapeutics for degenerative diseases requires development of criteria for defining normal stem cells to ensure safe transplantation. Currently, identification of abnormal from normal stem cells is based on extensive ex vivo and in vivo testing. Raman...... microscopy is a label-free method for rapid and sensitive detection of changes in cells' bio-molecular composition. Here, we report that by using Raman spectroscopy, we were able to map the distribution of different biomolecules within 2 types of stem cells: adult human bone marrow-derived stromal stem cells...... and human embryonic stem cells and to identify reproducible differences in Raman's spectral characteristics that distinguished genetically abnormal and transformed stem cells from their normal counterparts. Raman microscopy can be prospectively employed as a method for identifying abnormal stem cells in ex...

  13. Prevalence of biochemical and immunological abnormalities in ...

    African Journals Online (AJOL)

    Tile prevalence of biochemical and immunological abnormalities was studied in a group of 256 patients with rheumatoid arthritis (104 coloureds, 100 whites and 52 blacks). The most common biochemical abnormalities detected were a reduction in the serum creatinine value (43,4%), raised globulins (39,7%), raised serum ...

  14. The prevalence of electroencephalographic abnormalities and ...

    African Journals Online (AJOL)

    Adele

    2004-05-20

    May 20, 2004 ... premorbid organic insult. Both would likely have increased the probability of an abnormal EEG. The high prevalence of abnormal EEGs, particularly of EEGs supporting a diagnosis of epilepsy may reflect a high prevalence in the study popula- tion, but more likely reflects the careful selection of patients.

  15. Relationship among sera lipoprotein abnormalities in healthy ...

    African Journals Online (AJOL)

    As the prevalence of lipoprotein abnormalities in adolescents is increasing dramatically, the identification of relevant risk factors is a major public health challenge. The aim of this study was to investigate whether a family history of diabetes could be a risk factor for lipid abnormalities in healthy individuals. This study is a ...

  16. Sex chromosomes and sex chromosome abnormalities.

    Science.gov (United States)

    Li, Xu

    2011-12-01

    This article focuses on constitutional sex chromosome abnormalities detected by conventional cytogenetics and fluorescence in situ hybridization. The author discusses the two general classifications of abnormalities: numerical and structural. Also included are descriptions of unique aspects of X and Y chromosomes, technological advances in detection, and future perspectives.

  17. [CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH INFERTILITY].

    Science.gov (United States)

    Pylyp, L Y; Spinenko, L O; Verhoglyad, N V; Kashevarova, O O; Zukin, V D

    2015-01-01

    To assess the frequency and structure of chromosomal abnormalities in patients with infertility, a retrospective analysis of cytogenetic studies of 3414 patients (1741 females and 1673 males), referred to the Clinic of reproductive medicine "Nadiya" from 2007 to 2012, was performed. Chromosomal abnormalities were detected in 2.37% patients: 2.79% in males and 1.95% in females. Balanced structural chromosomal abnormalities prevailed over numerical abnormalities and corresponded to 80.2% of all chromosomal abnormalities detected in the studied group. Sex chromosome abnormalities made up 23.5% of chromosomal pathology (19/81) and included gonosomal aneuploidies in 84% of cases (16/19) and structural abnormalities of chromosome Y in 16% of cases (3/19). The low level sex chromosome mosaicism was detected with the frequency of 0.55%. Our results highlight the importance of cytogenetic studies in patients seeking infertility treatment by assisted reproductive technologies, since an abnormal finding not only provide a firm diagnosis to couples with infertility, but also influences significantly the approach to infertility treatment in such patients.

  18. Multiparametric tissue abnormality characterization using manifold regularization

    Science.gov (United States)

    Batmanghelich, Kayhan; Wu, Xiaoying; Zacharaki, Evangelia; Markowitz, Clyde E.; Davatzikos, Christos; Verma, Ragini

    2008-03-01

    Tissue abnormality characterization is a generalized segmentation problem which aims at determining a continuous score that can be assigned to the tissue which characterizes the extent of tissue deterioration, with completely healthy tissue being one end of the spectrum and fully abnormal tissue such as lesions, being on the other end. Our method is based on the assumptions that there is some tissue that is neither fully healthy or nor completely abnormal but lies in between the two in terms of abnormality; and that the voxel-wise score of tissue abnormality lies on a spatially and temporally smooth manifold of abnormality. Unlike in a pure classification problem which associates an independent label with each voxel without considering correlation with neighbors, or an absolute clustering problem which does not consider a priori knowledge of tissue type, we assume that diseased and healthy tissue lie on a manifold that encompasses the healthy tissue and diseased tissue, stretching from one to the other. We propose a semi-supervised method for determining such as abnormality manifold, using multi-parametric features incorporated into a support vector machine framework in combination with manifold regularization. We apply the framework towards the characterization of tissue abnormality to brains of multiple sclerosis patients.

  19. Effects of theophylline administration and intracranial abnormalities ...

    African Journals Online (AJOL)

    Objective: To determine effects of theophylline therapy for recurrent apnoea of prematurity and abnormal early (within the first 24 hours) cranial ultrasound abnormalities on protective neck turning response in preterm infants. Design: A cross sectional descriptive study. Setting: The Neonatal Unit of Hammersmith Hospital, ...

  20. Relationship among sera lipoprotein abnormalities in healthy ...

    African Journals Online (AJOL)

    Jane

    2011-08-29

    Aug 29, 2011 ... As the prevalence of lipoprotein abnormalities in adolescents is increasing dramatically, the identification of relevant ... investigate whether a family history of diabetes could be a risk factor for lipid abnormalities in healthy individuals. This study is a ..... thickness in children with type 1 diabetes. Diabetes, 51: ...

  1. Common echocardiographic abnormalities in Nigerians of different ...

    African Journals Online (AJOL)

    Conclusion: This study has reaffirmed rheumatic heart disease (predominantly mitral valve regurgitation) as the commonest cardiac abnormality in adolescents and young adults. Degenerative valvular diseases, left ventricular diastolic dysfunction, and atrial septal defects were the commonest abnormalities in the elderly, ...

  2. Common echocardiographic abnormalities in Nigerians of different ...

    African Journals Online (AJOL)

    2012-09-17

    Sep 17, 2012 ... Degenerative valvular diseases, left ventricular diastolic dysfunction, and atrial septal defects were the commonest abnormalities in the elderly, middle-aged population and children, respectively. Key words: Different age groups, echocardiographic abnormalities, Nigerians. Date of Acceptance: 17-Sep- ...

  3. First Trimester Ultrasound Screening for Congenital Abnormalities ...

    African Journals Online (AJOL)

    approach used, especially with the introduction of first trimester ultrasound as a reliable screening method. Objective: To give a comprehensive review of the basis for first trimester ultrasound screening for congenital abnormalities, it's utilization in the prenatal screening for chromosomal, structural and genetic abnormalities ...

  4. Abnormal fat distribution in PMM2-CDG

    NARCIS (Netherlands)

    Wolthuis, D.F.; Asbeck, E.V. van; Kozicz, T.L.; Morava, E.

    2013-01-01

    We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or

  5. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  6. Signs and symptoms of developmental abnormalities of the genitourinary tract

    Directory of Open Access Journals (Sweden)

    Paulo Cesar Koch Nogueira

    2016-06-01

    Full Text Available Abstract Objective: The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract. Data sources: Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature. Data synthesis: The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations; (b previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios; (c clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction; and (d pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment. Conclusion: The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.

  7. Rare cytogenetic abnormalities in myelodysplastic syndromes.

    Science.gov (United States)

    Bacher, Ulrike; Schanz, Julie; Braulke, Friederike; Haase, Detlef

    2015-01-01

    The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.

  8. RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMES

    Directory of Open Access Journals (Sweden)

    Julie Schanz

    2015-04-01

    Full Text Available The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS and the revised IPSS-R (IPSS-R that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS. The most frequent cytogenetic abnormalities in MDS, i.e. del(5q, -7/del(7q, +8, complex karyotypes, or –Y have been extensively explored for their prognostic impact. The IPSS-R considers also some less frequent abnormalities such as del(11q, isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression, of chromosome 14 or 14q (prognostically intermediate to favorable, -X (in females, with an intermediate prognosis, or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.

  9. Nail abnormalities in patients with vitiligo.

    Science.gov (United States)

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (pvitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study.

  10. Progress in Mathematical Modeling of Gastrointestinal Slow Wave Abnormalities.

    Science.gov (United States)

    Du, Peng; Calder, Stefan; Angeli, Timothy R; Sathar, Shameer; Paskaranandavadivel, Niranchan; O'Grady, Gregory; Cheng, Leo K

    2017-01-01

    Gastrointestinal (GI) motility is regulated in part by electrophysiological events called slow waves, which are generated by the interstitial cells of Cajal (ICC). Slow waves propagate by a process of "entrainment," which occurs over a decreasing gradient of intrinsic frequencies in the antegrade direction across much of the GI tract. Abnormal initiation and conduction of slow waves have been demonstrated in, and linked to, a number of GI motility disorders. A range of mathematical models have been developed to study abnormal slow waves and applied to propose novel methods for non-invasive detection and therapy. This review provides a general outline of GI slow wave abnormalities and their recent classification using multi-electrode (high-resolution) mapping methods, with a particular emphasis on the spatial patterns of these abnormal activities. The recently-developed mathematical models are introduced in order of their biophysical scale from cellular to whole-organ levels. The modeling techniques, main findings from the simulations, and potential future directions arising from notable studies are discussed.

  11. [Fetal abnormalities and prognosis associated with increased nuchal translucency and abnormal karyotype].

    Science.gov (United States)

    Saldanha, Fátima Aparecida Targino; Brizot, Maria de Lourdes; Lopes, Lilian M; Liao, Adolfo Wenjaw; Zugaib, Marcelo

    2009-01-01

    This study aimed to evaluate the incidence of chromosomal abnormalities in fetuses with increased nuchal translucency (NT) measurement. Incidence of structural abnormalities and pregnancy outcome was also described in fetuses with increased NT and abnormal karyotype. This was a retrospective study involving 246 fetuses with increased NT and known karyotype followed at the Fetal Medicine Unit, Hospital das Clínicas, São Paulo University Medical School. Fetal karyotype was abnormal in 14.2% of the cases. Ultrasound anomaly scan and specialized echocardiographic studies in these cases showed fetal structural abnormalities in 80.8% and cardiac defects were found in 61.5% of the fetuses. Pregnancy outcome was abnormal in 76.5% of these women. Increased NT measurement at 11 to 13 weeks and 6 days is an important marker for fetal chromosomal and structural abnormalities, mainly fetal cardiac defects. This finding also indicates increased risk of spontaneous fetal and neonatal death.

  12. Antenatal diagnosis and management of urinary abnormalities.

    Science.gov (United States)

    Colodny, A H

    1987-10-01

    Although much time, effort, and money have been expended in the area of fetal surgery and even though considerable unfortunate media publicity has resulted, the actual clinical problem is not one of great magnitude. Currently all those interested in this area agree that consideration of any intrauterine manipulation or surgery should be reserved for a fetus who has bilateral involvement that is progressive, destructive, and associated with oligohydramnios. Except for rare instances, this eliminates all fetuses except those with some type of urethral obstruction. Significant urethral obstruction accounts for approximately 10 per cent of all patients who have a prenatal diagnosis of a urologic abnormality. Of this 10 per cent, some will not be progressive, some will not be destructive, some will not involve both kidneys, and some will not develop oligohydramnios. Some of these patients will be diagnosed early enough in pregnancy to allow termination of the pregnancy if the involvement is significant and if termination is acceptable to the family. Some will be diagnosed late enough in pregnancy so that if the lungs are mature or can be stimulated to mature, early delivery and postnatal management can be elected. Some will have other associated lethal anomalies that can be diagnosed and would preclude any consideration of intrauterine manipulation or therapy. Some will have irreversible renal failure. Occasionally, the mother may refuse any proposed intrauterine therapy. Thus we are probably considering, on a theoretic basis, well under 1 per cent of all fetuses who have a prenatal diagnosis of urologic abnormalities. There may be some unusual situations that justify intrauterine manipulation. One that we encountered involved a fetus with an abdominal mass so large that a cesarean section was deemed necessary (Figs. 12 and 13). Aspiration of the mass just before delivery was performed to allow a vaginal delivery. Another case involved a pregnant woman who developed

  13. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  14. On two abnormal sharks from Gujarat

    Digital Repository Service at National Institute of Oceanography (India)

    Gopalan, U.K.

    The description of the two abnormal sharks, Carchariaswalbeehmi and Eulamia dussumieri collected from Gujarat, India, is given Of these C walbeehmi was double-headed The other shark E dussumieri had thumb snouted albino...

  15. Low-set ears and pinna abnormalities

    Science.gov (United States)

    ... because they do not affect hearing. However, sometimes cosmetic surgery is recommended. Skin tags may be tied off, ... 5 years old. More severe abnormalities may require surgery for cosmetic reasons as well as for function. Surgery to ...

  16. Morphological abnormality among regenerated shoots of banana ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-11-02

    AAA), 'Rastali',. 'Nangka' (AAB) and 'Baka Baling' (ABB) were chosen to compare the effect of benzylaminopurine (BAP) and thidiazuron (TDZ) on multiplication efficiency in relation with frequency of abnormal shoot.

  17. Brain growth rate abnormalities visualized in adolescents with autism.

    Science.gov (United States)

    Hua, Xue; Thompson, Paul M; Leow, Alex D; Madsen, Sarah K; Caplan, Rochelle; Alger, Jeffry R; O'Neill, Joseph; Joshi, Kishori; Smalley, Susan L; Toga, Arthur W; Levitt, Jennifer G

    2013-02-01

    Autism spectrum disorder is a heterogeneous disorder of brain development with wide ranging cognitive deficits. Typically diagnosed before age 3, autism spectrum disorder is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared with those of typically developing children and adolescents. Using tensor-based morphometry, we created 3D maps visualizing regional tissue growth rates based on longitudinal brain MRI scans of 13 autistic and seven typically developing boys (mean age/interscan interval: autism 12.0 ± 2.3 years/2.9 ± 0.9 years; control 12.3 ± 2.4/2.8 ± 0.8). The typically developing boys demonstrated strong whole brain white matter growth during this period, but the autistic boys showed abnormally slowed white matter development (P = 0.03, corrected), especially in the parietal (P = 0.008), temporal (P = 0.03), and occipital lobes (P = 0.02). We also visualized abnormal overgrowth in autism in gray matter structures such as the putamen and anterior cingulate cortex. Our findings reveal aberrant growth rates in brain regions implicated in social impairment, communication deficits and repetitive behaviors in autism, suggesting that growth rate abnormalities persist into adolescence. Tensor-based morphometry revealed persisting growth rate anomalies long after diagnosis, which has implications for evaluation of therapeutic effects. Copyright © 2011 Wiley Periodicals, Inc.

  18. Prevalence of asymptomatic urinary abnormalities among adolescents

    Directory of Open Access Journals (Sweden)

    Mohamed Fouad

    2016-01-01

    Full Text Available To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1% individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8% at the second screening, (P <0.001. Hematuria was the most common urinary abnormalities detected in 245 (9.8% adolescents who had persistent urine abnormalities; 228 (9.1% individuals had non glomerular hematuria. The hematuria was isolated in 150 (6% individuals, combined with leukocyturia in 83 (3.3% individuals, and combined with proteinuria in 12 (0.5% individuals. Leukocyturia was detected in 150 (6% of all studied adolescents; it was isolated in 39 (1.6% individuals and combined with proteinuria in 28 (1.1% of them. Asymp- tomatic bacteriuria was detected in 23 (0.9% of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6% of all the studied adolescents; 45 (1.8% indivi- duals had <0.5 g/day and twenty (0.8% individuals had 0.5-3 g/day. Asymptomatic urinary abnormalities were more common in males than females and adolescents from rural than urban areas (P <0.01 and (P <0.001, respectively. The present study found a high prevalence of asymptomatic urinary abnormalities among adolescents in our population.

  19. Heterotaxy syndromes and abnormal bowel rotation

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Koppolu, Raji; Sylvester, Karl [Lucile Packard Children' s Hospital at Stanford, Department of Surgery, Stanford, CA (United States); Murphy, Daniel [Lucile Packard Children' s Hospital at Stanford, Department of Cardiology, Stanford, CA (United States)

    2014-05-15

    Bowel rotation abnormalities in heterotaxy are common. As more children survive cardiac surgery, the management of gastrointestinal abnormalities has become controversial. To evaluate imaging of malrotation in heterotaxy with surgical correlation and provide an algorithm for management. Imaging reports of heterotaxic children with upper gastrointestinal (UGI) and/or small bowel follow-through (SBFT) were reviewed. Subsequently, fluoroscopic images were re-reviewed in conjunction with CT/MR studies. The original reports and re-reviewed images were compared and correlated with surgical findings. Nineteen of 34 children with heterotaxy underwent UGI, 13/19 also had SBFT. In 15/19 reports, bowel rotation was called abnormal: 11 malrotation, 4 non-rotation, no cases of volvulus. Re-review, including CT (10/19) and MR (2/19), designated 17/19 (90%) as abnormal, 10 malrotation (abnormal bowel arrangement, narrow or uncertain length of mesentery) and 7 non-rotation (small bowel and colon on opposite sides plus low cecum with probable broad mesentery). The most useful CT/MR findings were absence of retroperitoneal duodenum in most abnormal cases and location of bowel, especially cecum. Abnormal orientation of mesenteric vessels suggested malrotation but was not universal. Nine children had elective bowel surgery; non-rotation was found in 4/9 and malrotation was found in 5/9, with discrepancies (non-rotation at surgery, malrotation on imaging) with 4 original interpretations and 1 re-review. We recommend routine, early UGI and SBFT studies once other, urgent clinical concerns have been stabilized, with elective laparoscopic surgery in abnormal or equivocal cases. Cross-sectional imaging, usually obtained for other reasons, can contribute diagnostically. Attempting to assess mesenteric width is important in differentiating non-rotation from malrotation and more accurately identifies appropriate surgical candidates. (orig.)

  20. Diagnosis and treatment of abnormal dental pain

    OpenAIRE

    Fukuda, Ken-ichi

    2016-01-01

    Most dental pain is caused by an organic problem such as dental caries, periodontitis, pulpitis, or trauma. Diagnosis and treatment of these symptoms are relatively straightforward. However, patients often also complain of abnormal dental pain that has a non-dental origin, whose diagnosis is challenging. Such abnormal dental pain can be categorized on the basis of its cause as referred pain, neuromodulatory pain, and neuropathic pain. When it is difficult to diagnose a patient's dental pain, ...

  1. Familial eccrine syringofibroadenomatosis with associated ophthalmologic abnormalities.

    Science.gov (United States)

    Chen, S; Palay, D; Templeton, S F

    1998-08-01

    Eccrine syringofibroadenoma (ESFA) is a rare benign adnexal tumor, generally with sporadic occurrence and not linked to other diseases. Only one familial occurrence of ESFA has been reported. We describe the familial occurrence of multiple ESFAs in a father and his two sons, all of whom also had similar eyelid abnormalities and progressive corneal scarring. This description of hereditary ESFA is the first to link ESFA with periocular and ocular abnormalities.

  2. Somatosensory abnormalities in Chinese patients with painful temporomandibular disorders.

    Science.gov (United States)

    Yang, Guangju; Baad-Hansen, Lene; Wang, Kelun; Fu, Kaiyuan; Xie, Qiu-Fei; Svensson, Peter

    2016-01-01

    The somatosensory phenotype of Chinese temporomandibular disorders (TMD) patients is not sufficiently studied with the use of contemporary techniques and guidelines. A standardized quantitative sensory testing (QST) battery consisting of 13 parameters with a stringent statistical protocol developed by the German Research Network on Neuropathic Pain was performed over the most painful and corresponding contralateral sites as well as the right hand of 40 Chinese patients with TMD and pain classified according to the Diagnostic Criteria for TMD (DC/TMD). The same QST protocol was performed bilaterally over the infraorbital, mental, and hand regions of 70 age- and gender-stratified healthy Chinese controls. Z-scores and loss/gain scores were computed for each TMD patient. For patients, 82.5 % had somatosensory abnormalities in the painful facial region, while 60.0 % had abnormalities confined to the right hand. The most frequent abnormalities were somatosensory gain to pinprick (35.0 %) and pressure (35.0 %) stimuli, somatosensory loss to pinprick (25.0 %), cold (22.5 %), and heat (15.0 %) nociceptive stimuli. The most frequent loss/gain score was L0G2 (no somatosensory loss combined with a gain of mechanical somatosensory function) for both the facial (40.0 %) and hand (27.5 %) regions. Involving side-to-side differences in the evaluation increased the diagnostic sensitivity by 2.5-25.0 % across different parameters. Somatosensory abnormalities were commonly detected in Chinese TMD pain patients both within and outside the primary painful region, strongly indicating disturbances in the central processing of somatosensory stimuli. The individual variations in somatosensory abnormalities indicate a possible need for development of individualized TMD pain management.

  3. Imaging findings in fetal diaphragmatic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Gudinchet, Francois [University Hospital Center of Lausanne, Unit of Radiopediatrics, Department of Radiology, Lausanne (Switzerland); Meuli, Reto [University Hospital Center of Lausanne, Department of Radiology, Lausanne (Switzerland)

    2015-12-15

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. (orig.)

  4. Quantifying the abnormal hemodynamics of sickle cell anemia

    Science.gov (United States)

    Lei, Huan; Karniadakis, George

    2012-02-01

    Sickle red blood cells (SS-RBC) exhibit heterogeneous morphologies and abnormal hemodynamics in deoxygenated states. A multi-scale model for SS-RBC is developed based on the Dissipative Particle Dynamics (DPD) method. Different cell morphologies (sickle, granular, elongated shapes) typically observed in deoxygenated states are constructed and quantified by the Asphericity and Elliptical shape factors. The hemodynamics of SS-RBC suspensions is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. Moreover, SS-RBCs exhibit abnormal adhesive interactions with both the vessel endothelium cells and the leukocytes. The effect of the abnormal adhesive interactions on the hemodynamics of sickle blood is investigated using the current model. It is found that both the SS-RBC - endothelium and the SS-RBC - leukocytes interactions, can potentially trigger the vicious ``sickling and entrapment'' cycles, resulting in vaso-occlusion phenomena widely observed in micro-circulation experiments.

  5. ABNORMAL FINDINGS IN PAP SMEARS: ISFAHAN PROVIENCE 1997-1998

    Directory of Open Access Journals (Sweden)

    G.H SADRI

    2001-06-01

    Full Text Available Background. Cervical cancer is a common female malignancy in developing countries. In our health care system, the screening program is performed by doing pap smears with the interval of three years. This study was designed to determine the prevalence and frequency disturbation of abnormal smears. Methods. This is a cross sectional study was done in 1997-1998. Sample group were all the under coverage married women aged 20-65 years who have a factor of referal criteria. Papsmears samples were interpreted by a pathologist. Papsmear results were documented by colposcopy and biopsy. Results. The prevalence of abnormal smears in under coverage women is 0.05 percent. Results of abnormal papsmears due to more investigations (colposcopy and biopsy were: Normal 25 percent, ASCUS 57 percent, CIN 14 percent, CIN 2 1 percent, CIN 3 1 percent invasive cancer 2 percent. Conclusion. Refering of women with abnormal signs such as leukoplakia, cervical erosion, and history of contact bleeding is necessary. The number of false positive results in cytotechnologlsts diagtlosfs is high. This result shows that on-job-training for cytotechnologists is important.

  6. Early detection of abnormal patient arrivals at hospital emergency department

    KAUST Repository

    Harrou, Fouzi

    2015-10-21

    Overcrowding is one of the most crucial issues confronting emergency departments (EDs) throughout the world. Efficient management of patient flows for ED services has become an urgent issue for most hospital administrations. Handling and detection of abnormal situations is a key challenge in EDs. Thus, the early detection of abnormal patient arrivals at EDs plays an important role from the point of view of improving management of the inspected EDs. It allows the EDs mangers to prepare for high levels of care activities, to optimize the internal resources and to predict enough hospitalization capacity in downstream care services. This study reports the development of statistical method for enhancing detection of abnormal daily patient arrivals at the ED, which able to provide early alert mechanisms in the event of abnormal situations. The autoregressive moving average (ARMA)-based exponentially weighted moving average (EWMA) anomaly detection scheme proposed was successfully applied to the practical data collected from the database of the pediatric emergency department (PED) at Lille regional hospital center, France.

  7. The Real Culprit in Systemic Lupus Erythematosus: Abnormal Epigenetic Regulation

    Science.gov (United States)

    Wu, Haijing; Zhao, Ming; Chang, Christopher; Lu, Qianjin

    2015-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple organs and the presence of anti-nuclear antibodies. The pathogenesis of SLE has been intensively studied but remains far from clear. B and T lymphocyte abnormalities, dysregulation of apoptosis, defects in the clearance of apoptotic materials, and various genetic and epigenetic factors are attributed to the development of SLE. The latest research findings point to the association between abnormal epigenetic regulation and SLE, which has attracted considerable interest worldwide. It is the purpose of this review to present and discuss the relationship between aberrant epigenetic regulation and SLE, including DNA methylation, histone modifications and microRNAs in patients with SLE, the possible mechanisms of immune dysfunction caused by epigenetic changes, and to better understand the roles of aberrant epigenetic regulation in the initiation and development of SLE and to provide an insight into the related therapeutic options in SLE. PMID:25988383

  8. Ocular abnormalities in healthy Standardbred foals.

    Science.gov (United States)

    Barsotti, Giovanni; Sgorbini, Micaela; Marmorini, Paola; Corazza, Michele

    2013-07-01

    To determine the prevalence and describe ocular abnormalities in healthy Standardbred foals within 48 h of birth. One hundred and two neonatal foals. All foals had an unassisted delivery. On the basis of physical examination and the results of hematological and biochemical parameters, all foals were unaffected by systemic diseases. A complete ophthalmic examination was performed within 48 h of birth. Foals with ocular hemorrhages were re-examined weekly until the abnormalities were resolved. 65/102 (63.7%) foals did not show ocular abnormalities, while in 37/102 (36.3%) cases, ocular abnormalities were present. Retinal and subconjunctival hemorrhages were recorded in 19/102 (18.6%), and in 13/102 (12.7%), respectively. In 4/102 (3.9%) animals, an entropion of the lower eyelid was present. Only one foal (1%) showed a congenital nuclear unilateral cataract. No other ocular abnormalities were detected. However, all foals showed various degrees of remnants of hyaloid system. One week after the first ocular examination, retinal hemorrhages had resolved in 100% of the eyes, whereas subconjunctival hemorrhages had disappeared in all eyes by the second week following the first examination. The acquired ocular lesions observed with relatively high frequency in the examined healthy Standardbred foals were ocular hemorrhages, which always showed a good outcome. Although these abnormalities were present at birth, they were not considered strictly congenital but likely acquired during parturition. Instead, congenital ocular abnormalities were rarely diagnosed, and the entropion of the lower eyelid was the most common disease in the breed. © 2012 American College of Veterinary Ophthalmologists.

  9. Cortical thickness abnormalities associated with dyslexia, independent of remediation status

    Science.gov (United States)

    Ma, Yizhou; Koyama, Maki S.; Milham, Michael P.; Castellanos, F. Xavier; Quinn, Brian T.; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

    2014-01-01

    Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the “reading network.” Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same “double hit” of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status. PMID:25610779

  10. Structural brain abnormalities in 12 persons with aniridia

    Science.gov (United States)

    Grant, Madison K.; Bobilev, Anastasia M.; Pierce, Jordan E.; DeWitte, Jon; Lauderdale, James D.

    2017-01-01

    Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development.  The ocular abnormalities of aniridia have been well characterized, but mounting evidence has implicated brain-related phenotypes as a prominent feature of this disorder as well.  Investigations using neuroimaging in aniridia patients have shown reductions in discrete brain structures and changes in global grey and white matter.  However, limited sample sizes and substantive heterogeneity of structural phenotypes in the brain remain a challenge.  Methods: Here, we examined brain structure in a new population sample in an effort to add to the collective understanding of anatomical abnormalities in aniridia.  The current study used 3T magnetic resonance imaging to acquire high-resolution structural data in 12 persons with aniridia and 12 healthy demographically matched comparison subjects.  Results: We examined five major structures: the anterior commissure, the posterior commissure, the pineal gland, the corpus callosum, and the optic chiasm.  The most consistent reductions were found in the anterior commissure and the pineal gland; however, abnormalities in all of the other structures examined were present in at least one individual.  Conclusions: Our results indicate that the anatomical abnormalities in aniridia are variable and largely individual-specific.  These findings suggest that future studies investigate this heterogeneity further, and that normal population variation should be considered when evaluating structural abnormalities. PMID:29034075

  11. Guidelines on the management of abnormal liver blood tests.

    Science.gov (United States)

    Newsome, Philip N; Cramb, Rob; Davison, Suzanne M; Dillon, John F; Foulerton, Mark; Godfrey, Edmund M; Hall, Richard; Harrower, Ulrike; Hudson, Mark; Langford, Andrew; Mackie, Anne; Mitchell-Thain, Robert; Sennett, Karen; Sheron, Nicholas C; Verne, Julia; Walmsley, Martine; Yeoman, Andrew

    2018-01-01

    These updated guidelines on the management of abnormal liver blood tests have been commissioned by the Clinical Services and Standards Committee (CSSC) of the British Society of Gastroenterology (BSG) under the auspices of the liver section of the BSG. The original guidelines, which this document supersedes, were written in 2000 and have undergone extensive revision by members of the Guidelines Development Group (GDG). The GDG comprises representatives from patient/carer groups (British Liver Trust, Liver4life, PBC Foundation and PSC Support), elected members of the BSG liver section (including representatives from Scotland and Wales), British Association for the Study of the Liver (BASL), Specialist Advisory Committee in Clinical Biochemistry/Royal College of Pathology and Association for Clinical Biochemistry, British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN), Public Health England (implementation and screening), Royal College of General Practice, British Society of Gastrointestinal and Abdominal Radiologists (BSGAR) and Society of Acute Medicine. The quality of evidence and grading of recommendations was appraised using the AGREE II tool. These guidelines deal specifically with the management of abnormal liver blood tests in children and adults in both primary and secondary care under the following subheadings: (1) What constitutes an abnormal liver blood test? (2) What constitutes a standard liver blood test panel? (3) When should liver blood tests be checked? (4) Does the extent and duration of abnormal liver blood tests determine subsequent investigation? (5) Response to abnormal liver blood tests. They are not designed to deal with the management of the underlying liver disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. A RARE CASE OF CONGENITAL ABNORMALITIES OF THE MAXILLOFACIAL REGION

    Directory of Open Access Journals (Sweden)

    Юлия Владимировна Степанова

    2014-09-01

    Full Text Available This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

  13. Abnormal Magnetic Field Effects on Electrogenerated Chemiluminescence

    Science.gov (United States)

    Pan, Haiping; Shen, Yan; Wang, Hongfeng; He, Lei; Hu, Bin

    2015-03-01

    We report abnormal magnetic field effects on electrogenerated chemiluminescence (MFEECL) based on triplet emission from the Ru(bpy)3Cl2-TPrA electrochemical system: the appearance of MFEECL after magnetic field ceases. In early studies the normal MFEECL have been observed from electrochemical systems during the application of magnetic field. Here, the abnormal MFEECL suggest that the activated charge-transfer [Ru(bpy)33+ … TPrA•] complexes may become magnetized in magnetic field and experience a long magnetic relaxation after removing magnetic field. Our analysis indicates that the magnetic relaxation can gradually increase the density of charge-transfer complexes within reaction region due to decayed magnetic interactions, leading to a positive component in the abnormal MFEECL. On the other hand, the magnetic relaxation facilitates an inverse conversion from triplets to singlets within charge-transfer complexes. The inverse triplet --> singlet conversion reduces the density of triplet light-emitting states through charge-transfer complexes and gives rise to a negative component in the abnormal MFEECL. The combination of positive and negative components can essentially lead to a non-monotonic profile in the abnormal MFEECL after ceasing magnetic field. Nevertheless, our experimental studies may reveal un-usual magnetic behaviors with long magnetic relaxation from the activated charge-transfer [Ru(bpy)33+ … TPrA•] complexes in solution at room temperature.

  14. [Liver enzyme abnormalities among oil refinery workers].

    Science.gov (United States)

    Carvalho, Fernando Martins; Silvany Neto, Annibal Muniz; Mendes, João Luiz Barberino; Cotrim, Helma Pinchemel; Nascimento, Ana Lísia Cunha; Lima Júnior, Alberto Soares; Cunha, Tatiana Oliveira Bernardo da

    2006-02-01

    Occupational exposure typical of an oil refinery may alter liver function among the workers. Thus, the objective of the study was to identify risk factors for liver enzyme abnormalities among oil refinery workers. The workers at an oil refinery in Northeastern Brazil underwent routine annual medical examination from 1982 to 1998. This case-control study investigated all the 150 cases of individuals with simultaneous gamma-glutamyltransferase and alanine aminotransferase abnormalities of at least 10% above reference levels. As controls, 150 workers without any liver enzyme or bilirubin abnormalities since starting to work there were selected. Odds ratios and the respective 95% confidence intervals were calculated from logistic regression models. In all the production sectors, the risk of liver enzyme abnormalities was significantly higher than in the administrative sector (OR=5.7; 95% CI: 1.7-18.4), even when the effects of alcohol, obesity and medical history of hepatitis were controlled for. During the period from 1992 to 1994, 88 out of the 89 cases occurred among workers from the various production sectors. Occupational exposure plays an important role in causing liver enzyme abnormalities among oil refinery workers. This is in addition to the specifically biological and/or behavioral risk factors such as obesity and alcohol consumption.

  15. Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China.

    Science.gov (United States)

    Li, Dingyang; Zhang, Hongguo; Wang, Ruixue; Zhu, Haibo; Li, Linlin; Liu, Ruizhi

    2012-08-01

    To detect incidences and the types of chromosomal abnormalities in Chinese men with infertility and determine chromosomal factors association with various phenotypes. Semen analysis and karyotype analysis by G-banding were carried out in 4,659 idiopathic infertile males; additionally, multiplex PCR using nine specific sequence-tagged sites (STSs) was used to detect azoospermia factor (AZF) microdeletions in 412 patients with Y chromosomal abnormalities. Male infertility was divided into pregestational infertility, characterized by failure to produce a fertilized ovum, and gestational infertility, characterized by embryo loss after fertilization. The former can result from azoospermia, oligozoospermia or oligoasthenozoospermia syndrome, while the latter is associated with developmental early pregnancy loss, habitual miscarriage and stillbirth. Among 4,659 male patients, 412 (8.84 %) showed abnormal chromosomal karyotypes, including 314 (6.74 %) with sex chromosomal abnormalities and 98 (2.10 %) with autosomal abnormalities. The prevalences of numerical and structural abnormalities among patients with chromosomal abnormalities were 259/412 (62.86 %) and 153/412 (37.14 %), respectively. Furthermore, structural sex chromosomal abnormalities were represented by various phenotypic profiles (46,XX, 47,XYY and 45,X/46,XY), and a prevalence of AZF microdeletions of 19/79 (24.05 %). AZF microdeletions were highly associated with Y chromosomal abnormalities (P = 0.018). Various chromosomal abnormalities that result in male infertility could affect spermatogenesis or embryonic development at different levels. Sex chromosomal and autosomal abnormalities were highly associated with pregestational and gestational infertility, respectively. AZF microdeletions may play an important role in lowering the stability of the Y chromosome.

  16. Abnormal Grain Growth Suppression in Aluminum Alloys

    Science.gov (United States)

    Hales, Stephen J. (Inventor); Claytor, Harold Dale (Inventor); Alexa, Joel A. (Inventor)

    2015-01-01

    The present invention provides a process for suppressing abnormal grain growth in friction stir welded aluminum alloys by inserting an intermediate annealing treatment ("IAT") after the welding step on the article. The IAT may be followed by a solution heat treatment (SHT) on the article under effectively high solution heat treatment conditions. In at least some embodiments, a deformation step is conducted on the article under effective spin-forming deformation conditions or under effective superplastic deformation conditions. The invention further provides a welded article having suppressed abnormal grain growth, prepared by the process above. Preferably the article is characterized with greater than about 90% reduction in area fraction abnormal grain growth in any friction-stir-welded nugget.

  17. Neurological abnormalities associated with CDMA exposure.

    Science.gov (United States)

    Hocking, B; Westerman, R

    2001-09-01

    Dysaesthesiae of the scalp and neurological abnormality after mobile phone use have been reported previously, but the roles of the phone per se or the radiations in causing these findings have been questioned. We report finding a neurological abnormality in a patient after accidental exposure of the left side of the face to mobile phone radiation [code division multiple access (CDMA)] from a down-powered mobile phone base station antenna. He had headaches, unilateral left blurred vision and pupil constriction, unilateral altered sensation on the forehead, and abnormalities of current perception thresholds on testing the left trigeminal ophthalmic nerve. His nerve function recovered during 6 months follow-up. His exposure was 0.015-0.06 mW/cm(2) over 1-2 h. The implications regarding health effects of radiofrequency radiation are discussed.

  18. Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome

    Directory of Open Access Journals (Sweden)

    Vamshidhar R. Vootla

    2015-07-01

    Full Text Available Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

  19. Preoperative electrocardiography: its cost-effectiveness in detecting abnormalities when a previous tracing exists.

    Science.gov (United States)

    Rabkin, S W; Horne, J M

    1979-01-01

    In 812 patients who underwent routine preoperative electrocardiography a mean of 24.6 months after undergoing electrocardiography at the same institution, the frequency of new abnormalities was estimated to evaluate the cost-effectiveness of this procedure prior to an operation. New abnormalities were judged to be either relevant or irrelevant to the assessment of operative risk, depending upon their previously demonstrated correlation with operative and postoperative morbidity and mortality. Since new abnormalities, especially new relevant abnormalities, were found to be relatively infrequent, the cost-effectiveness of routine preoperative electrocardiography was considered to be low. The evidence suggested that when a previous tracing exists preoperative electrocardiography is most clearly indicated for patients who are 60 years of age or older or whose previous tracing exhibited abnormalities. However, further research is required to develop more sensitive and specific protocols, and to evaluate the role of repeat electrocardiography in clinical decision-making. PMID:111793

  20. Abnormal sperm count and motility on semen analysis are not sufficiently predictive of abnormal Kruger morphology.

    Science.gov (United States)

    Morelli, Sara S; Seungdamrong, Aimee; McCulloh, David H; McGovern, Peter G

    2010-12-01

    Abnormal morphology by Kruger's strict criteria cannot be predicted reliably by the presence of other abnormal parameters on semen analysis. Assessment of Kruger morphology therefore remains a necessary component of a complete semen analysis in the workup of the infertile couple. Copyright © 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  1. Abnormal vibration induced illusion of movement in essential tremor: evidence for abnormal muscle spindle afferent function

    OpenAIRE

    Frima, N; Grunewald, R

    2005-01-01

    Objectives: Vibration induced illusion of movement (VIIM) is abnormal in patients with idiopathic focal dystonia, an abnormality which corrects with fatigue of the vibrated muscle. Since dystonia and essential tremor sometimes coexist in families, we investigated the perception of VIIM and the effect of fatigue on VIIM in patients with essential tremor.

  2. Abnormal Event Detection Using Local Sparse Representation

    DEFF Research Database (Denmark)

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    measurement based on the difference between the normal space and local space. Specifically, we provide a reasonable normal bases through repeated K spectral clustering. Then for each testing feature we first use temporal neighbors to form a local space. An abnormal event is found if any abnormal feature...... is found that satisfies: the distance between its local space and the normal space is large. We evaluate our method on two public benchmark datasets: UCSD and Subway Entrance datasets. The comparison to the state-of-the-art methods validate our method's effectiveness....

  3. RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMES

    OpenAIRE

    Julie Schanz; Friederike Braulke; Detlef Haase

    2015-01-01

    The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 1...

  4. Regional Articular Cartilage Abnormalities of the Hip.

    Science.gov (United States)

    Link, Thomas M; Schwaiger, Benedikt J; Zhang, Alan L

    2015-09-01

    Imaging of hip cartilage is challenging because of its limited thickness and complex geometry and therefore requires advanced MRI techniques. However, cartilage abnormalities are found in a number of disease entities, and their diagnosis may impact patient management. This article will provide pertinent information about the motivation to image hip cartilage, which imaging techniques to use, and how to analyze cartilage; finally, we will discuss disease entities with regional cartilage lesions, including the typical MRI findings. Because the detection and quantification of regional cartilage abnormalities are critical for guidance of operative and nonoperative management of hip disorders, radiologists should be familiar with imaging and analysis techniques for assessing hip cartilage.

  5. Abnormal Taenia saginata tapeworms in Thailand.

    Science.gov (United States)

    Maipanich, Wanna; Sato, Megumi; Pubampen, Somchit; Sanguankiat, Surapol; Kusolsuk, Teera; Thaenkham, Urusa; Waikagul, Jitra

    2011-09-01

    Sixty-eight residents of Ban Luang and Ban Pang Kae villages, in Nan Province, northern Thailand, visited our mobile field station in September 2006 and March 2007, seeking treatment for taeniasis. After treatment, 22 cases discharged tapeworm strobila in their fecal samples and 17 scolices were recovered. Among these, 3 were morphologically abnormal, with six suckers on the scolex. To confirm the species of these tapeworms, the mitochondrial cytochrome c oxidase subunit I (COI) gene was used as a molecular marker. The partial COI sequences (800 bp) of the abnormal tapeworms were identical to the sequences of Taenia saginata deposited in Genbank.

  6. Hemorheological abnormalities in human arterial hypertension

    Science.gov (United States)

    Lo Presti, Rosalia; Hopps, Eugenia; Caimi, Gregorio

    2014-05-01

    Blood rheology is impaired in hypertensive patients. The alteration involves blood and plasma viscosity, and the erythrocyte behaviour is often abnormal. The hemorheological pattern appears to be related to some pathophysiological mechanisms of hypertension and to organ damage, in particular left ventricular hypertrophy and myocardial ischemia. Abnormalities have been observed in erythrocyte membrane fluidity, explored by fluorescence spectroscopy and electron spin resonance. This may be relevant for red cell flow in microvessels and oxygen delivery to tissues. Although blood viscosity is not a direct target of antihypertensive therapy, the rheological properties of blood play a role in the pathophysiology of arterial hypertension and its vascular complications.

  7. Temporal abnormalities in children with developmental dyscalculia.

    Science.gov (United States)

    Vicario, Carmelo Mario; Rappo, Gaetano; Pepi, Annamaria; Pavan, Andrea; Martino, Davide

    2012-01-01

    Recent imaging studies have associated Developmental dyscalculia (DD) to structural and functional alterations corresponding Parietal and the Prefrontal cortex (PFC). Since these areas were shown also to be involved in timing abilities, we hypothesized that time processing is abnormal in DD. We compared time processing abilities between 10 children with pure DD (8 years old) and 11 age-matched healthy children. Results show that the DD group underestimated duration of a sub-second scale when asked to perform a time comparison task. The timing abnormality observed in our DD participants is consistent with evidence of a shared fronto-parietal neural network for representing time and quantity.

  8. Research on a detection algorithm for abnormal state of load

    Directory of Open Access Journals (Sweden)

    Yu Dan

    2017-01-01

    Full Text Available This paper describes the development status and main problems of load monitoring, introduces the key technologies of load monitoring, and by using a load state monitoring system, emphatically illustrates a detection algorithm for abnormal state of the secondary load of the current transformer on the three-phase line of the power grid. The algorithm mainly achieves the real-time detection of abnormal state such as disconnection, short connection and series connected semiconductor. In the light of this algorithm, the working principle is explained, the model formula is worked out, and the state criterion is given. The load condition monitoring system is debugged, put into operation and tested in the pilot operation, and the results show that the algorithm has a good effect.

  9. PALM-COEIN Nomenclature for Abnormal Uterine Bleeding.

    Science.gov (United States)

    Deneris, Angela

    2016-05-01

    Approximately 30% of women will experience abnormal uterine bleeding (AUB) during their life time. Previous terms defining AUB have been confusing and imprecisely applied. As a consequence, both clinical management and research on this common problem have been negatively impacted. In 2011, the International Federation of Gynecology and Obstetrics (FIGO) Menstrual Disorders Group (FMDG) published PALM-COEIN, a new classification system for abnormal bleeding in the reproductive years. Terms such as menorrhagia, menometrorrhagia, metrorrhagia, dysfunctional uterine bleeding, polymenorrhea, oligomenorrhea, and uterine hemorrhage are no longer recommended. The PALM-COEIN system was developed to standardize nomenclature to describe the etiology and severity of AUB. A brief description of the PALM-COEIN nomenclature is presented as well as treatment options for each etiology. Clinicians will frequently encounter women with AUB and should report findings utilizing the PALM-COEIN system. © 2016 by the American College of Nurse-Midwives.

  10. Circulatory abnormalities in cirrhosis with focus on neurohumoral aspects

    DEFF Research Database (Denmark)

    Møller, S; Henriksen, Jens Henrik Sahl

    1997-01-01

    -angiotensin-aldosterone system, and elevated circulating vasopressin, endothelin-1 may also be implicated in the hemodynamic counter-regulation in cirrhosis. Recent research has focused on the assertion that the hemodynamic and neurohumoral abnormalities in cirrhosis are part of a general circulatory dysfunction influencing......Patients with cirrhosis exhibit characteristic hemodynamic changes with a hyperkinetic circulation and an abnormal distribution of the blood volume and neurohumoral regulation. Their plasma and noncentral blood volumes are increased, and the central and arterial blood volume and systemic vascular...... resistance are decreased. A peripheral arterial vasodilatation may be of pathogenic importance to the low systemic vascular resistance as it directly correlates to the degree of central hypovolemia. It may therefore be an important element in the development of the low arterial blood pressure...

  11. Transverse testicular ectopia with abnormal karyotype - a case report.

    Science.gov (United States)

    Harasymczuk, Jerzy; Kaminiarczyk-Pyzalka, Dominika; Krawczynski, Maciej; Niedziela, Marek; Wasko, Ryszard; Czarnywojtek, Agata; Jankowski, Andrzej

    2011-01-01

    Growth disturbances and developmental malformations of external genitalia, such as hypospadias, bifid scrotum and micropenis, coexisting with non-palpable testes, may develop as a result of primary endocrinological dysfunctions as well as an effect secondary to chromosomal aberrations. Therefore, patients with these symptoms require specific diagnostic and therapeutic approaches. We present an example of TTE as a presentation of karyotype abnormalities. Clinical presentation - 9.5 year old boy presented with hypospadias, bilateral cryptorchidism and right inguinal hernia and short stature. Endocrine test showed low testosterone levels with adequate gonadal response. Laparoscopy was performed and revealed the presence of TTE. The presence of mosaic karyotype with abnormal Y chromosome does not exclude a possibility of testis migration disorders, including TTE, caused by other (possibly genetic) factors. Laparoscopy is a technique of choice for diagnosis and treatment in cases of cryptorchidism.

  12. Non Syndromic Hypoglossia With Mandibular and Palatal Abnormalities

    Directory of Open Access Journals (Sweden)

    Shishir Ram Shetty

    2011-03-01

    Full Text Available Tongue is the most mobile organ of the body with multiple functions such as speech, mastication, taste and swallowing. Numerous congenital and developmental disorders of the tongue have been reported in literature. Hypoglossia also known as microglossia is one of the rare anomalies. Usually hypoglossia is associated with many other systemic abnormalities but rarely found as an isolated entity. Lack of tongue development leads to decreased mandibular growth. The aim of this article is to report a rare case of isolated hypoglossia and resultant micrognathia. Presence of palatal and faucial pillar abnormalities with hypoglossia which is extremely rare is also highlighted in our report. [J Contemp Med 2011; 1(1.000: 25-28

  13. Adenotonsillar hypertrophy as a risk factor of dentofacial abnormality in Korean children.

    Science.gov (United States)

    Kim, Dong-Kyu; Rhee, Chae Seo; Yun, Pil-Young; Kim, Jeong-Whun

    2015-11-01

    No studies for the role of adenotonsillar hypertrophy in development of dentofacial abnormalities have been performed in Asian pediatric population. Thus, we aimed to investigate the relationship between adenotonsillar hypertrophy and dentofacial abnormalities in Korean children. The present study included consecutive children who visited a pediatric clinic for sleep-disordered breathing due to habitual mouth breathing, snoring or sleep apnea. Their palatine tonsils and adenoids were graded by oropharyngeal endoscopy and lateral cephalometry. Anterior open bite, posterior crossbite, and Angle's class malocclusions were evaluated for dentofacial abnormality. The receiver-operating characteristic curve analysis was used to identify age cutoffs to predict dentofacial abnormality. A total of 1,083 children were included. The presence of adenotonsillar hypertrophy was significantly correlated with the prevalence of dentofacial abnormality [adjusted odds ratio = 4.587, 95% CI (2.747-7.658)] after adjusting age, sex, body mass index, allergy, and Korean version of obstructive sleep apnea-18 score. The cutoff age associated with dentofacial abnormality was 5.5 years (sensitivity = 75.5%, specificity = 67%) in the children with adenotonsillar hypertrophy and 6.5 years (sensitivity = 70.6%, specificity = 57%) in those without adenotonsillar hypertrophy. In conclusion, adenotonsillar hypertrophy may be a risk factor for dentofacial abnormalities in Korean children and early surgical intervention could be considered with regards to dentofacial abnormality.

  14. Radiographic Abnormalities in the Feet of Diabetic Patients with Neuropathy and Foot Ulceration.

    Science.gov (United States)

    Viswanathan, Vijay; Kumpatla, Satyavani; Rao, V Narayan

    2014-11-01

    People with diabetic neuropathy are frequently prone to several bone and joint abnormalities. Simple radiographic findings have been proven to be quite useful in the detection of such abnormalities, which might be helpful not only for early diagnosis but also in following the course of diabetes through stages of reconstruction of the ulcerated foot.The present study was designed to identify the common foot abnormalities in south Indian diabetic subjects with and without neuropathy using radiographic imaging. About 150 (M:F 94:56) subjects with type 2 diabetes were categorised into three groups: Group I (50 diabetic patients), Group II (50 patients with neuropathy), and Group III (50 diabetic patients with both neuropathy and foot ulceration). Demographic details, duration of diabetes and HbA1c values were recorded. Vibration perception threshold was measured for assessment of neuropathy. Bone and joint abnormalities in the feet and legs of the study subjects were identified using standardised dorsi-plantar and lateral weight-bearing radiographs. Radiographic findings of the study subjects revealed that those with both neuropathy and foot ulceration and a longer duration of diabetes had more number of bone and joint abnormalities. Subjects with neuropathy alone also showed presence of several abnormalities, including periosteal reaction, osteopenia, and Charcot changes. The present findings highlight the impact of neuropathy and duration of diabetes on the development of foot abnormalities in subjects with diabetes. Using radiographic imaging can help in early identification of abnormalities and better management of the diabetic foot.

  15. Schizophrenogenic Parenting in Abnormal Psychology Textbooks.

    Science.gov (United States)

    Wahl, Otto F.

    1989-01-01

    Considers the treatment of family causation of schizophrenia in undergraduate abnormal psychology textbooks. Reviews texts published only after 1986. Points out a number of implications for psychologists which arise from the inclusion in these texts of the idea that parents cause schizophrenia, not the least of which is the potential for…

  16. Psychology Faculty Perceptions of Abnormal Psychology Textbooks

    Science.gov (United States)

    Rapport, Zachary

    2011-01-01

    The problem. The purpose of the current study was to investigate the perceptions and opinions of psychology professors regarding the accuracy and inclusiveness of abnormal psychology textbooks. It sought answers from psychology professors to the following questions: (1) What are the expectations of the psychology faculty at a private university of…

  17. Prevalence Of Dental Abnormalities Among Handicapped Children ...

    African Journals Online (AJOL)

    Efforts to improve the quality of life of handicapped people are on the increase world wide, their oral health inclusive. Relevant data is required for adequate planning for this purpose. A survey of 579 handicapped children was carried out in Lagos to assess the various dental abnormalities among them. Over 34% of them ...

  18. Specificity of haemostasis abnormalities for vascular phenotypes.

    Science.gov (United States)

    Lowe, G D; Haverkate, F

    1998-01-01

    Atherothrombosis is a systemic disease, hence it is difficult to prove the specificity of haemostasis abnormality for any single vascular phenotype. Associations between haemostatic variables and any given phenotype, e.g. (vascular) dementia, should be interpreted with caution, given the overlaps of vascular disease phenotypes, risk factors, and haemostatic variables.

  19. Pattern Analysis: The Question of Abnormality.

    Science.gov (United States)

    Silverstein, A. B.

    1984-01-01

    Addresses the question of abnormality when comparing a subject's score on each subtest with that subject's average subtest score on one of Weschler's scales. Suggests comparing each subtest score with the Verbal or Performance average rather than with the overall average. Provides tables estimating differences of standardization samples. (BH)

  20. A Universally Abnormality-Adaptive Logic

    OpenAIRE

    BATENS D.

    2001-01-01

    The present paper presents a logic that allows for the abnormal behaviour of any logical constant and for the ambiguous behaviour of any non-logical constant, but nevertheless offers an interpretation of the premises that is as normal as possible.

  1. immunological arthritis Prevalence of biochemical and abnormalities ...

    African Journals Online (AJOL)

    1991-02-02

    Feb 2, 1991 ... Tile prevalence of biochemical and immunological abnormali- ties was studied in a group of 256 patients with rheumatoid arthritis (104 coloureds, 100 whites and 52 blacks). The most common biochemical abnormalities detected were a reduction in the serum creatinine value (43,4%), raised globulins (39 ...

  2. [A young man with extensive skin abnormalities].

    Science.gov (United States)

    van der Weijden, C P; Joore, I K

    2018-01-01

    A 26-year-old man who has sex with men visited the STI clinic because of increasing skin abnormalities since four months. The patient had macular skin lesions on his penis and scrotum, condylomata lata in the anal region, cutaneous lesions on the feet, and a widespread papular rash. A secondary stage of syphilis was diagnosed.

  3. [Renal abnormalities in Down syndrome: A review].

    Science.gov (United States)

    Niamien-Attai, C; Bacchetta, J; Ranchin, B; Sanlaville, D; Cochat, P

    2017-10-01

    Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli. Histological lesions can be found, albeit nonspecific; they occur earlier than in the general population. Two metabolic specificities have also been described: decreased clearance of uric acid and a hypercalciuria by passive hyperabsorption. End-stage renal disease can occur, thus raising the problem of the best choice of management. In conclusion, renal abnormalities in patients in DS should be known so as to preserve a good renal functional prognosis: systematic screening with renal ultrasound can be proposed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. ORIGINAL ARTICLE EEG changes and neuroimaging abnormalities ...

    African Journals Online (AJOL)

    salah

    Background:Autism is currently viewed as a genetically determined neurode- velopmental disorder although its definite underlying etiology remains to be established. Aim of the Study: Our purpose was to assess autism related morphological neuroimaging changes of the brain and EEG abnormalities in correlation to the.

  5. Correcting abnormal speaking through communication partners ...

    African Journals Online (AJOL)

    The listed characteristics are called speech disorders. Abnormal speaking attracts some penalties to the speaker. The penalties are usually very disturbing to the speaker that undertaking some therapeutic measures becomes inevitable. Communication partners strategy is a speech correction approach which makes use of ...

  6. [Y chromosome structural abnormalities and Turner's syndrome].

    Science.gov (United States)

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  7. Evaluation of Chromosomal Abnormalities and Common ...

    African Journals Online (AJOL)

    Its' pathophysiology is poorly understood. Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. Objective: To evaluate the frequency of chromosomal abnormalities and 3 common thrombophilic mutations in couples with RM. Methods: A retrospective data collection ...

  8. Craniocervical junction abnormalities with atlantoaxial subluxation ...

    African Journals Online (AJOL)

    Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 were diagnosed in a 6-month-old female Pomeranian with tetraplegia as a clinical sign. Lateral survey radiography of the neck with flexion revealed atlantoaxial subluxation with ventral subluxation of C2. Computed ...

  9. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  10. Prevelence and Pattern of Electrocardiographic Abnormalities Seen ...

    African Journals Online (AJOL)

    Objective: There is paucity of published data on the prevalence and pattern of electrocardiographic abnormalities (ECGA) seen in adult Nigerians referred for this investigation. This study determined the prevalence and pattern of some ECGA in Nigerian adults. Methods: This is a hospital based audit to determine the ...

  11. Ophthalmological abnormalities in wild European hedgehogs ...

    African Journals Online (AJOL)

    The predominant finding was bilateral nuclear cataract seen particularly in young poorly growing animals. Investigation into the potential causation of cataracts by poor nutrition or poor feeding ability by lens opacification requires further study. Keywords: Cataract, Conservation, Eye abnormality, Hedgehog, Rehabilitation ...

  12. Systemic abnormalities in migraine: what comes first?

    Science.gov (United States)

    Marmura, Michael J

    2009-03-01

    Recent research suggests that migraine results from the interplay of multiple factors, and many studies have considered the relationship of migraine to systemic abnormalities. This editorial comments on recent findings relating to migraine and metabolic syndrome, and suggests some possible causes.

  13. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  14. Craniofacial abnormalities among patients with Edwards Syndrome

    Science.gov (United States)

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  15. Abnormal interhemispheric connectivity in male psychopathic offenders.

    Science.gov (United States)

    Hoppenbrouwers, Sylco S; De Jesus, Danilo R; Sun, Yinming; Stirpe, Tania; Hofman, Dennis; McMaster, Jeff; Hughes, Ginny; Daskalakis, Zafiris J; Schutter, Dennis J L G

    2014-01-01

    Psychopathic offenders inevitably violate interpersonal norms and frequently resort to aggressive and criminal behaviour. The affective and cognitive deficits underlying these behaviours have been linked to abnormalities in functional interhemispheric connectivity. However, direct neurophysiological evidence for dysfunctional connectivity in psychopathic offenders is lacking. We used transcranial magnetic stimulation combined with electroencephalography to examine interhemispheric connectivity in the dorsolateral and motor cortex in a sample of psychopathic offenders and healthy controls. We also measured intracortical inhibition and facilitation over the left and right motor cortex to investigate the effects of local cortical processes on interhemispheric connectivity. We enrolled 17 psychopathic offenders and 14 controls in our study. Global abnormalities in right to left functional connectivity were observed in psychopathic offenders compared with controls. Furthermore, in contrast to controls, psychopathic offenders showed increased intracortical inhibition in the right, but not the left, hemisphere. The relatively small sample size limited the sensitivity to show that the abnormalities in interhemispheric connectivity were specifically related to the dorsolateral prefrontal cortex in psychopathic offenders. To our knowledge, this study provides the first neurophysiological evidence for abnormal interhemispheric connectivity in psychopathic offenders and may further our understanding of the disruptive antisocial behaviour of these offenders.

  16. Pulmonary Hypertension and Vascular Abnormalities in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Mourani, Peter M; Abman, Steven H

    2015-12-01

    Despite advances in the care of preterm infants, these infants remain at risk bronchopulmonary dysplasia (BPD), which results in prolonged need for supplemental oxygen, recurrent respiratory exacerbations, and exercise intolerance. Recent investigations have highlighted the important contribution of the developing pulmonary circulation to lung development, showing that these infants are also at risk for pulmonary vascular disease (PVD), including pulmonary hypertension (PH) and pulmonary vascular abnormalities. Several epidemiologic studies have delineated the incidence of PH in preterm infants and the impact on outcomes. These studies have also highlighted gaps in the understanding of PVD in BPD. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas.

    Science.gov (United States)

    Kiviranta, A-M; Rusbridge, C; Laitinen-Vapaavuori, O; Hielm-Björkman, A; Lappalainen, A K; Knowler, S P; Jokinen, T S

    2017-11-01

    Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neurologic deficits and to investigate the association of CM/SM-related clinical signs with signalment, SM, or CCJ abnormalities. Fifty-three client-owned Chihuahuas. Prospective study. Questionnaire analyses and physical and neurologic examinations were obtained before magnetic resonance and computed tomography imaging. Images were evaluated for the presence of SM, CM, and atlantooccipital overlapping. Additionally, medullary kinking, dorsal spinal cord compression, and their sum indices were calculated. Scratching was the most common CM/SM-related clinical sign and decreased postural reaction the most common neurologic deficit in 73 and 87% of dogs, respectively. Chiari-like malformation and SM were present in 100 and 38% of dogs, respectively. Syringomyelia was associated with the presence of CM/SM-related clinical signs (P = 0.034), and medullary kinking and sum indices were higher in dogs with clinical signs (P = 0.016 and P = 0.007, respectively). Syringomyelia and CCJ abnormalities are prevalent in Chihuahuas. Syringomyelia was an important factor for the presence of CM/SM-related clinical signs, but many dogs suffered from similar clinical signs without being affected by SM, highlighting the clinical importance of CCJ abnormalities in Chihuahuas. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  18. Quantitative cholescintigraphy and bile abnormalities in patients with acalculous biliary pain

    Energy Technology Data Exchange (ETDEWEB)

    Ponce, Julio; Pons, Vicente; Garrigues, Vicente; Ponce, Marta; Ortiz, Vicente; Pertejo, Virginia [Gastroenterology Unit, La Fe University Hospital, Valencia (Spain); Sopena, Ramon [Service of Nuclear Medicine, Dr. Peset University Hospital, Valencia (Spain)

    2004-08-01

    Acalculous biliary pain has been related to gallbladder dysfunction that produces a gallbladder emptying defect - a condition which favours the development of lithiasis. It is therefore probable that microlithiasis is present in patients with gallbladder dysfunction. The aims of this study were to measure gallbladder emptying and investigate bile abnormalities in patients with acalculous biliary pain. In 92 consecutive patients, gallbladder emptying was assessed by quantitative cholescintigraphy (abnormal ejection fraction {<=}40%). In 64 patients, a microscopic study was performed on duodenal bile, defining abnormality as the presence of cholesterol crystals in any amount and/or calcium bilirubinate granules and/or microspheroliths at a rate of >10 per slide. The ejection fraction was abnormal in 45 patients (49%) (median 25.1%, range 6.8-39.3%) and normal in the remaining 47 cases (median 71.3%, range 41.0-96.1%). Bile was abnormal in 32 of 64 patients (50%), the most frequent finding being calcium bilirubinate granules. In the patients with bile abnormalities, abnormal ejection fraction was more frequent (20 of 32) and the median ejection fraction was lower (30.9%, range 12.0-94.1%) than in the patients with normal bile (16 of 32 with an abnormal ejection fraction; median ejection fraction 50.7%, range 6.8-96.1%). Abnormal bile was frequent (55.5%) in patients with reduced ejection fraction, but was not uncommon in patients with normal ejection fraction (33.3%). Fewer patients showed no alteration (25%). It is concluded that in most patients, acalculous biliary pain coexists with gallbladder dysfunction or abnormal bile, the combination of both alterations being common. (orig.)

  19. Pelvic organ prolapse and connective tissue abnormalities in Korean women.

    Science.gov (United States)

    Bai, Sang Wook; Choe, Byung Hoon; Kim, Jeong Yeon; Park, Ki Hyun

    2002-03-01

    To evaluate the relationship between pelvic organ prolapse in Korean women and joint hypermobility, which suggests a metabolic collagen fiber abnormality. Between March 1998 and March 2000, we investigated 55 patients with prolapse. The prevalence of joint hypermobility, by measuring finger extension angle, and the proportion of patients with joint hypermobility were measured in patients with pelvic organ prolapse and benign gynecologic patients (control group). In middle-aged women (40-59 years), the average finger extension angles were higher in the POP group than in the control group (50.04 +/- 9.70 degrees vs. 39.50 +/- 12.19 degrees, respectively; P .05). The prevalence of joint hypermobility was higher in the POP group and with advanced POP stage (III, IV) than in the control group and early POP stage (I, II). Our results suggest that intrinsic connective tissue abnormality is related to the development of pelvic organ prolapse. Further study involving more patients with pelvic organ prolapse is warranted, and molecular studies to determine the genetic basis of pelvic organ prolapse are also required to further elucidate this abnormality.

  20. Malignancy and Abnormality Detection of Mammograms using Classifier Ensembling

    Directory of Open Access Journals (Sweden)

    Nawazish Naveed

    2011-07-01

    Full Text Available The breast cancer detection and diagnosis is a critical and complex procedure that demands high degree of accuracy. In computer aided diagnostic systems, the breast cancer detection is a two stage procedure. First, to classify the malignant and benign mammograms, while in second stage, the type of abnormality is detected. In this paper, we have developed a novel architecture to enhance the classification of malignant and benign mammograms using multi-classification of malignant mammograms into six abnormality classes. DWT (Discrete Wavelet Transformation features are extracted from preprocessed images and passed through different classifiers. To improve accuracy, results generated by various classifiers are ensembled. The genetic algorithm is used to find optimal weights rather than assigning weights to the results of classifiers on the basis of heuristics. The mammograms declared as malignant by ensemble classifiers are divided into six classes. The ensemble classifiers are further used for multiclassification using one-against-all technique for classification. The output of all ensemble classifiers is combined by product, median and mean rule. It has been observed that the accuracy of classification of abnormalities is more than 97% in case of mean rule. The Mammographic Image Analysis Society dataset is used for experimentation.

  1. Abnormal patterning analysis using actual lens and illumination source data

    Science.gov (United States)

    Hong, Jongkyun; Lee, Jeonkyu; Kang, Eunsuk; Yang, Hyunjo; Yim, Donggyu; Guerrero, James; Chung, Rob

    2005-05-01

    As the minimum feature size shrinks down, i.e. low K1 lithography regime, the tool"s lens aberration sensitivity and user defined illumination imperfection might play a major role in patterning error. Thus, the study of impact from lens aberration and illumination on patterning is required for good tool maintenance and yield improvement. For this purpose, we collected many cases of abnormal patterning result from production line and then simulated in terms of actual lens aberration and illumination source data. LITEL products of ISI(In-situ Interferometer) and SMI(Source Metrology Interferometer) were used for characterizing lens and illumination source. Moreover, the ACE(Analysis and Characteristic Engine) of LITEL development product was used as the simulator. In this work, deformation of pattern fidelity, for example, CD asymmetry in word line and metal contact layer, pattern bending in isolation layer and also decreasing process window in bit line layer will be discussed with experimental and simulation data. Finally, we are able to make a guideline for preventing abnormal phenomenon. From this study, we can understand which lens aberration terms and illumination imperfection take an effect of abnormal pattering result.

  2. Assessing cerebrovascular reactivity abnormality by comparison to a reference atlas.

    Science.gov (United States)

    Sobczyk, Olivia; Battisti-Charbonney, Anne; Poublanc, Julien; Crawley, Adrian P; Sam, Kevin; Fierstra, Jorn; Mandell, Daniel M; Mikulis, David J; Duffin, James; Fisher, Joseph A

    2015-02-01

    Attribution of vascular pathophysiology to reductions in cerebrovascular reactivity (CVR) is confounded by subjective assessment and the normal variation between anatomic regions. This study aimed to develop an objective scoring assessment of abnormality. CVR was measured as the ratio of the blood-oxygen-level-dependent magnetic resonance signal response divided by an increase in CO2, standardized to eliminate variability. A reference normal atlas was generated by coregistering the CVR maps from 46 healthy subjects into a standard space and calculating the mean and standard deviation (s.d.) of CVR for each voxel. Example CVR studies from 10 patients with cerebral vasculopathy were assessed for abnormality, by normalizing each patient's CVR to the same standard space as the atlas, and assigning a z-score to each voxel relative to the mean and s.d. of the corresponding atlas voxel. Z-scores were color coded and superimposed on their anatomic scans to form CVR z-maps. We found the CVR z-maps provided an objective evaluation of abnormality, enhancing our appreciation of the extent and distribution of pathophysiology compared with CVR maps alone. We concluded that CVR z-maps provide an objective, improved form of evaluation for comparisons of voxel-specific CVR between subjects, and across tests sites.

  3. Lung function abnormalities in children with type I diabetes.

    Science.gov (United States)

    van Gent, R; Brackel, H J L; de Vroede, M; van der Ent, C K

    2002-12-01

    Recent developments in intrabronchial administration of insulin raise lung function in patients with type I diabetes as important issue. Several studies in adults report abnormalities of lung function of these patients. The aim of this study was to investigate lung function in children with type I diabetes. Twenty-seven children with type I diabetes performed measurement of airway obstruction (forced flow-volume curves), lung volumes and airway resistance (bodyplethysmography) and of pulmonary carbon monoxide diffusion capacity Mean age (+/- SD) of the children was 12.8 +/- 5 years. Mean time between the detection of type I diabetes and the lung function tests was 5.5 years with a variation from I to 17 years. The total airway resistance (Raw) was significantly higher compared to the reference values (P 0.05). In this relatively small study no relationship between lung function abnormalities and age, the duration of disease or level of HbA1c was observed. Our data show that increase of airway resistance do occur in children withtype I diabetes. Progressive abnormalities in lung function might interfere with the promising results of treatment with intrabronchial administration of insulin.

  4. Karyotype versus microarray testing for genetic abnormalities after stillbirth.

    Science.gov (United States)

    Reddy, Uma M; Page, Grier P; Saade, George R; Silver, Robert M; Thorsten, Vanessa R; Parker, Corette B; Pinar, Halit; Willinger, Marian; Stoll, Barbara J; Heim-Hall, Josefine; Varner, Michael W; Goldenberg, Robert L; Bukowski, Radek; Wapner, Ronald J; Drews-Botsch, Carolyn D; O'Brien, Barbara M; Dudley, Donald J; Levy, Brynn

    2012-12-06

    Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P=0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.).

  5. Multiple luteinizing hormone receptor (LHR) protein variants, interspecies reactivity of anti-LHR mAb clone 3B5, subcellular localization of LHR in human placenta, pelvic floor and brain, and possible role for LHR in the development of abnormal pregnancy, pelvic floor disorders and Alzheimer's disease.

    Science.gov (United States)

    Bukovsky, Antonin; Indrapichate, Korakod; Fujiwara, Hiroshi; Cekanova, Maria; Ayala, Maria E; Dominguez, Roberto; Caudle, Michael R; Wimalsena, Jay; Elder, Robert F; Copas, Pleas; Foster, James S; Fernando, Romaine I; Henley, Donald C; Upadhyaya, Nirmala B

    2003-06-03

    Distinct luteinizing hormone receptor (LHR) protein variants exist due to the posttranslational modifications. Besides ovaries, LHR immunoreactivity (LHRI) was also found in other tissues, such as the brain, fallopian tube, endometrium, trophoblast and resident tissue macrophages. The 3B5 mouse monoclonal antibody was raised against purified rat LHR. In rat, porcine and human ovaries, the 3B5 identified six distinct LHR bands migrating at approximately 92, 80, 68, 59, 52 and 48 kDa. Characteristic LHRI was detected in rat, human and porcine corpora lutea. During cellular differentiation, subcellular LHR distribution changed from none to granular cytoplasmic, perinuclear, surface, nuclear and no staining. There were also differences in vascular LHR expression--lack of LHRI in ovarian vessels and strong staining of vessels in other tissues investigated. In normal human term placentae, villous LHRI was associated with blood sinusoids and cytotrophoblast cells, and rarely detected in trophoblastic syncytium. In all abnormal placentae, the LHRI of sinusoids was absent, and syncytium showed either enhanced (immature placental phenotypes) or no LHRI (aged placental phenotype). LHRI in human brain was identified in microglial cells (CD68+ resident macrophages). Protein extracts from human vaginal wall and levator ani muscle and fascia showed strong approximately 92 and 68 kDa species, and LHRI was detected in smooth muscle cells, fibroblasts, resident macrophages and nuclei of skeletal muscle fibers. Our observations indicate that, in contrast to the theory on the role of vascular hormone receptors in preferential pick up of circulating hormones, there is no need to enhance selective pick up rather only prevent LH/CG transport to inappropriate sites. Abnormal placental LHR expression may play a role in the development of abnormal pregnancy. Expression of LHR in the pelvic floor compartments suggests that high LH levels in postmenopausal women may contribute to the pelvic

  6. Multiple luteinizing hormone receptor (LHR protein variants, interspecies reactivity of anti-LHR mAb clone 3B5, subcellular localization of LHR in human placenta, pelvic floor and brain, and possible role for LHR in the development of abnormal pregnancy, pelvic floor disorders and Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Fernando Romaine I

    2003-06-01

    Full Text Available Abstract Distinct luteinizing hormone receptor (LHR protein variants exist due to the posttranslational modifications. Besides ovaries, LHR immunoreactivity (LHRI was also found in other tissues, such as the brain, fallopian tube, endometrium, trophoblast and resident tissue macrophages. The 3B5 mouse monoclonal antibody was raised against purified rat LHR. In rat, porcine and human ovaries, the 3B5 identified six distinct LHR bands migrating at ~92, 80, 68, 59, 52 and 48 kDa. Characteristic LHRI was detected in rat, human and porcine corpora lutea. During cellular differentiation, subcellular LHR distribution changed from none to granular cytoplasmic, perinuclear, surface, nuclear and no staining. There were also differences in vascular LHR expression – lack of LHRI in ovarian vessels and strong staining of vessels in other tissues investigated. In normal human term placentae, villous LHRI was associated with blood sinusoids and cytotrophoblast cells, and rarely detected in trophoblastic syncytium. In all abnormal placentae, the LHRI of sinusoids was absent, and syncytium showed either enhanced (immature placental phenotypes or no LHRI (aged placental phenotype. LHRI in human brain was identified in microglial cells (CD68+ resident macrophages. Protein extracts from human vaginal wall and levator ani muscle and fascia showed strong ~92 and 68 kDa species, and LHRI was detected in smooth muscle cells, fibroblasts, resident macrophages and nuclei of skeletal muscle fibers. Our observations indicate that, in contrast to the theory on the role of vascular hormone receptors in preferential pick up of circulating hormones, there is no need to enhance selective pick up rather only prevent LH/CG transport to inappropriate sites. Abnormal placental LHR expression may play a role in the development of abnormal pregnancy. Expression of LHR in the pelvic floor compartments suggests that high LH levels in postmenopausal women may contribute to the pelvic

  7. Cortical gyrification is abnormal in children with prenatal alcohol exposure.

    Science.gov (United States)

    Hendrickson, Timothy J; Mueller, Bryon A; Sowell, Elizabeth R; Mattson, Sarah N; Coles, Claire D; Kable, Julie A; Jones, Kenneth L; Boys, Christopher J; Lim, Kelvin O; Riley, Edward P; Wozniak, Jeffrey R

    2017-01-01

    Prenatal alcohol exposure (PAE) adversely affects early brain development. Previous studies have shown a wide range of structural and functional abnormalities in children and adolescents with PAE. The current study adds to the existing literature specifically on cortical development by examining cortical gyrification in a large sample of children with PAE compared to controls. Relationships between cortical development and intellectual functioning are also examined. Included were 92 children with PAE and 83 controls ages 9-16 from four sites in the Collaborative Initiative on FASD (CIFASD). All PAE participants had documented heavy PAE. All underwent a formal evaluation of physical anomalies and dysmorphic facial features. MRI data were collected using modified matched protocols on three platforms (Siemens, GE, and Philips). Cortical gyrification was examined using a semi-automated procedure. Whole brain group comparisons using Monte Carlo z-simulation for multiple comparisons showed significantly lower cortical gyrification across a large proportion of the cerebral cortex amongst PAE compared to controls. Whole brain comparisons and ROI based analyses showed strong positive correlations between cortical gyrification and IQ (i.e. less developed cortex was associated with lower IQ). Abnormalities in cortical development were seen across the brain in children with PAE compared to controls. Cortical gyrification and IQ were strongly correlated, suggesting that examining mechanisms by which alcohol disrupts cortical formation may yield clinically relevant insights and potential directions for early intervention.

  8. Abnormal respiratory drive in vibroacoustic disease.

    Science.gov (United States)

    Ferreira, João Reis; Albuquerque e Sousa, José; Foreld, Peter; Antunes, Marco; Cardoso, Sofia; Alves-Pereira, Mariana; Castelo Branco, Nuno A A

    2006-01-01

    Central nervous system disorders in workers exposed to low frequency noise (LFN, vibroacoustic disease (VAD) is defined as the systemic pathology caused by excessive exposure to LFN. The respiratory tract continues to be under heavy scrutiny in both LFN-exposed humans and animal models and has been confirmed as a major target for LFN-induced damage. Given that both the respiratory and central nervous systems were compromised in these workers, it became pertinent to investigate the status of the neurological control of breathing in VAD patients. The P- 0.1 value, a measure of the suction pressure developed at the mouth 0.1 seconds after the start of inspiration, depends on the respiratory centres and the autonomic nervous system pathway of the neural control of respiratory function. By rebreathing CO2, (6% in air) normal individuals present an average seven-fold increase in P0.1 (CO2) as compared to basal P- 0.1. Twenty-two male VAD patients (ave. age 50.5 +/- 8.5 years, range: 36-66 years) underwent the P0.1(CO2) index respiratory drive tests, as well as standard pulmonary function tests. Seven individuals (ave. age 42.4 +/-14 years, range: 25- 61 years) with reduced LFN exposure served as controls. Pulmonary function tests were normal in both VAD patients and controls. The P0.1 (CO2) in- dex was below average value in VAD patients (average: 22.9%) while it presented normal values in the control group (average > 60%). In the involuntary response to increased PCO2 levels, central chemoreceptors are responsible for 70% of the ventilatory stimulus. In VAD patients, this dysfunction may originate in the brainstem. This is corroborated by the fact that VAD patients register abnormal values for auditory brainstem evoked potentials, and disclose lesions with magnetic resonance imaging. The neurological control of breathing is compromised in VAD patients. The P0.1 (CO2) index may be a useful clinical indicator for VAD diagnosis and follow-up.

  9. Thyroid abnormalities in survivors of childhood cancer.

    Science.gov (United States)

    Çağlar, Ayla Akca; Oğuz, Aynur; Pınarlı, Faruk Güçlü; Karadeniz, Ceyda; Okur, Arzu; Bideci, Aysun; Koçak, Ülker; Bora, Hüseyin

    2014-09-01

    To investigate the late side effects of childhood cancer therapy on the thyroid gland and to determine the risk factors for development of thyroid disorder among childhood cancer survivors. One hundred and twenty relapse-free survivors of childhood cancer (aged 6-30 years) were included in this study. The diagnoses of patients were lymphoma, leukemia, brain tumor, rhabdomyosarcoma and nasopharyngeal carcinoma (NPC). The patients were divided into two groups depending on the treatment: group 1-chemotherapy (ChT) only (n=52) and group 2-combination therapy of ChT + radiotherapy (RT) (head/neck/thorax) (n=68). Thyroid function tests, urinary iodine levels, and thyroid gland ultrasound examinations were evaluated in both groups. Incidence of thyroid disease was 66% (n=79) in the survivors. The thyroid abnormalities were: hypothyroidism (HT) (n=32, 27%), thyroid nodules (n=27, 22%), thyroid parenchymal heterogeneity (n=40, 33%), autoimmune thyroiditis (n=36, 30%), and thyroid malignancy (n=3, 2%). While the incidence of HT and thyroid nodules in group 2 was significantly higher than in group 1, the incidence of thyroid parenchymal heterogeneity and autoimmune thyroiditis was similar in the two patient groups. HT and thyroid malignancy were seen only in group 2. In multivariate logistic regression analysis, a history of Hodgkin lymphoma (HL), brain tumor and NPC, as well as cervical irradiation and 5000-5999 cGy doses of radiation were found to constitute risk factors for HT. History of HL and 4000-5999 cGy doses of radiation were risk factors for thyroid nodules. Head/neck irradiation and treatment with platinum derivatives were risk factors for autoimmune thyroiditis. In univariate analysis, a history of NPC, cervical + nasopharyngeal irradiation, and treatment with platinum derivatives were risk factors for thyroid parenchymal heterogeneity. Our results indicate that there is especially an increased risk of HT and thyroid nodules in patients treated with combination

  10. Proliferation following tetraploidization regulates the size and number of erythrocytes in the blood flow during medaka development, as revealed by the abnormal karyotype of erythrocytes in the medaka TFDP1 mutant.

    Science.gov (United States)

    Taimatsu, Kiyohito; Takubo, Keiyo; Maruyama, Kouichi; Suda, Toshio; Kudo, Akira

    2015-05-01

    For the delivery of oxygen, the correct size/number of erythrocytes is required for proper blood flow. By combined analyses of wild-type (WT) medaka and the kyoho (kyo) mutant, we found proliferation-mediated adaptation for size/number of erythrocytes in the blood flow during medaka development. Before the start of heart beating in the WT medaka, the karyotype of erythrocytes was 2N-4N. After the start of blood flow, the karyotype changed to 4N-8N with tetraploidization, and the cell size became larger. After the start of intersegmental and pharyngeal blood flow, the erythrocytes became smaller. The medaka mutant kyo showed erythrocytes of large size, and positional cloning of kyo demonstrated the candidate gene TFDP1, indicating higher polyploidization due to arrest in S-phase in erythrocytes of the kyo mutant. From our findings, we uncovered a previously unrecognized system for the regulation of the size/number in the blood flow:proliferation of erythrocytes following tetraploidization during embryonic development. © 2015 Wiley Periodicals, Inc.

  11. Delayed Mismatch Field Latencies in Autism Spectrum Disorder with Abnormal Auditory Sensitivity: A Magnetoencephalographic Study

    Directory of Open Access Journals (Sweden)

    Junko Matsuzaki

    2017-09-01

    Full Text Available Although abnormal auditory sensitivity is the most common sensory impairment associated with autism spectrum disorder (ASD, the neurophysiological mechanisms remain unknown. In previous studies, we reported that this abnormal sensitivity in patients with ASD is associated with delayed and prolonged responses in the auditory cortex. In the present study, we investigated alterations in residual M100 and MMFs in children with ASD who experience abnormal auditory sensitivity. We used magnetoencephalography (MEG to measure MMF elicited by an auditory oddball paradigm (standard tones: 300 Hz, deviant tones: 700 Hz in 20 boys with ASD (11 with abnormal auditory sensitivity: mean age, 9.62 ± 1.82 years, 9 without: mean age, 9.07 ± 1.31 years and 13 typically developing boys (mean age, 9.45 ± 1.51 years. We found that temporal and frontal residual M100/MMF latencies were significantly longer only in children with ASD who have abnormal auditory sensitivity. In addition, prolonged residual M100/MMF latencies were correlated with the severity of abnormal auditory sensitivity in temporal and frontal areas of both hemispheres. Therefore, our findings suggest that children with ASD and abnormal auditory sensitivity may have atypical neural networks in the primary auditory area, as well as in brain areas associated with attention switching and inhibitory control processing. This is the first report of an MEG study demonstrating altered MMFs to an auditory oddball paradigm in patients with ASD and abnormal auditory sensitivity. These findings contribute to knowledge of the mechanisms for abnormal auditory sensitivity in ASD, and may therefore facilitate development of novel clinical interventions.

  12. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

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    Morokuma Seiichi

    2010-08-01

    Full Text Available Abstract Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth. Conclusions The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.

  13. Morphological Abnormalities of Thalamic Subnuclei in Migraine

    DEFF Research Database (Denmark)

    Magon, Stefano; May, Arne; Stankewitz, Anne

    2015-01-01

    . SIGNIFICANCE STATEMENT: This multicenter imaging study shows morphological thalamic abnormalities in a large cohort of patients with episodic migraine compared with healthy subjects using state-of-the-art MRI and advanced, fully automated multiatlas segmentation techniques. The results stress that migraine...... is a disorder of the CNS in which not only is brain function abnormal, but also brain structure is undergoing significant remodeling....... techniques in substantial patient populations are lacking. In the present study, we investigated changes of thalamic volume and shape in a large multicenter cohort of patients with migraine. High-resolution T1-weighted MRI data acquired at 3 tesla in 131 patients with migraine (38 with aura; 30.8 ± 9 years...

  14. Reproductive abnormalities in aged female Macaca fascicularis.

    Science.gov (United States)

    Wilkinson, Michele; Walters, Sherry; Smith, Taryn; Wilkinson, Andrew

    2008-02-01

    Spontaneous reproductive tract abnormalities occurred in six female wild-caught, Philippine-origin, Macaca fascicularis. These animals were between 19 and 22 years of age and maintained in captivity for approximately 15 years. Clinical presentations ranged from asymptomatic to painful menses manifested as cyclical recumbency and lethargy. All animals had masses in the caudal ventral abdomen. Diagnostics included physical examination, complete blood counts, clinical chemistries, radiography, and ultrasonography. All animals had an ovariosalpingohysterectomy. Histologic diagnoses included ovarian granulosa cell tumor, ovarian pseudocystic cavitation with encapsulating fibrosis, uterine smooth muscle hyperplasia, uterine leiomysarcoma, and uterine leiomyoma with possible adenomyosis. The abnormalities discovered in these animals present novel insight into the reproductive diseases prevalent in geriatric female M. fascicularis, which vary from that previously reported in other non-human primate species.

  15. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  16. Migraine and structural abnormalities in the brain

    DEFF Research Database (Denmark)

    Hougaard, Anders; Amin, Faisal Mohammad; Ashina, Messoud

    2014-01-01

    PURPOSE OF REVIEW: The aim is to provide an overview of recent studies of structural brain abnormalities in migraine and to discuss the potential clinical significance of their findings. RECENT FINDINGS: Brain structure continues to be a topic of extensive research in migraine. Despite advances...... in neuroimaging techniques, it is not yet clear if migraine is associated with grey matter changes. Recent large population-based studies sustain the notion of increased prevalence of white matter abnormalities in migraine, and possibly of silent infarct-like lesions. The clinical relevance of this association...... is not clear. Structural changes are not related to cognitive decline, but a link to an increased risk of stroke, especially in patients with aura, cannot be ruled out. SUMMARY: Migraine may be a risk factor for structural changes in the brain. It is not yet clear how factors such as migraine sub-type, attack...

  17. Behavioral correlates of epileptiform abnormalities in autism.

    Science.gov (United States)

    Trauner, Doris A

    2015-06-01

    There is a high incidence of epileptiform abnormalities in children with autism even in the absence of clinical seizures. These findings are most prominent during sleep recordings. The significance of these abnormalities is unclear. Although studies do not all agree, there may be some association between cognitive function, behavior, and the presence or absence of epileptiform discharges. Small studies of anticonvulsant treatment mostly suggest an improvement in certain aspects of cognitive or behavioral functioning in these children, but larger and more comprehensive studies are needed to determine the potential relationship between epileptiform discharges on EEG, cognitive and behavioral functioning, and treatment effects in the population with autism. This article is part of a Special Issue entitled "Autism and Epilepsy". Copyright © 2014 Elsevier Inc. All rights reserved.

  18. Abnormal cervical cytology and health care use

    DEFF Research Database (Denmark)

    Frederiksen, Maria Eiholm; Baillet, Miguel Vázquez-Prada; Dugué, Pierre-Antoine

    2015-01-01

    OBJECTIVE: This study aimed to assess the long-term use of health care services in women with abnormal cytology results compared to women with normal cytology results. METHODS: We did a nationwide population-based study, using women aged 23 to 59years participating in the national organized...... cervical cancer screening program. We included a study population of 40,153 women with abnormal cytology (exposed) and 752,627 women with normal cytology (non-exposed). We retrieved data from the Danish Civil Registration System, the Danish Pathology Data Bank, the National Health Service, the National......" the cytology result and for the 5-year period "after" the result. RESULTS: During the "before" period exposed women had more contacts to GPs, more contacts to psychologists/psychiatrist, and more hospital admissions than non-exposed women. In both exposed and non-exposed women, health care use increased from...

  19. Chorionic villus sampling for abnormal screening compared to historical indications: prevalence of abnormal karyotypes.

    Science.gov (United States)

    Marshall, Nicole E; Fraley, Gwen; Feist, Cori; Burns, Michael J; Pereira, Leonardo

    2012-08-01

    To determine the prevalence of abnormal karyotype results in women undergoing chorionic villus sampling (CVS) for abnormal first trimester screening compared to CVS for historical indications (advanced maternal age (AMA) or prior aneuploidy). Retrospective cohort of all patients undergoing CVS at Oregon Health & Science University from January 2006 to June 2010. Patients were separated based on CVS indication: (1) positive ultrasound (U/S) or serum screening; or (2) AMA or prior aneuploidy with normal or no screening. Prevalence of abnormal karyotype results were compared between groups. Fetal karyotyping was successful in 500 of 506 CVS procedures performed. 203 CVS were performed for positive screening with 69 abnormal karyotypes (34.0%). 264 CVS were performed for historical indications with 11 abnormal karyotypes (4.2%). This difference was statistically significant (χ(2) 71.9, p abnormal U/S and/or serum screening (35 U/S, 4 serum, 3 U/S and serum). Combined ultrasound and serum screening should be recommended to all women, including AMA women, prior to undergoing invasive testing to improve risk-based counseling and minimize morbidity.

  20. Abnormal eating behaviors in military women.

    Science.gov (United States)

    Lauder, T D; Williams, M V; Campbell, C S; Davis, G D; Sherman, R A

    1999-09-01

    The purpose of this study was to evaluate the prevalence of abnormal eating behaviors in women on active duty in the Army. A total of 423 female soldiers from the general population on active duty volunteered to participate in this study. They completed the Eating Disorder Inventory (EDI) questionnaire. Each questionnaire was screened and any woman on active duty practicing abnormal eating behaviors (criteria set up by the authors) underwent an interview. A diagnosis, using DSM IV criteria, of one of the following was determined from the interview: 1) No eating disorder, (2) Anorexia nervosa, 3) Bulimia nervosa, 4) binge eating disorder, 5a) Eating disorder NOS, and 5b) Situational eating disorder. A situational eating disorder was defined as any abnormal eating behaviors consistent with an eating disorder NOS that was practiced intermittently and in response to external pressures associated with significant distress, such as military weigh-ins or army physical fitness testing (APFT). Of the 423 women on active duty who participated, 33.6% (N = 142) met the questionnaire screening criteria for being "at risk" for abnormal eating behaviors and underwent an interview. Of the 142 women interviewed, 33 (8%) women were diagnosed with an eating disorder. The women with eating disorders exercised, felt dissatisfied with their weight, and felt significantly more pressure about their weight than the women without eating disorders. In addition, they also had significantly greater scores on the Drive for Thinness (DT), Bulemia (B), and Body Dissatisfaction (BD) subscales, and the total EDI scores for both the 8 and 11 subscales. In the women on active duty in the Army studied, there was an 8% prevalence of eating disorders.

  1. Dysglycemia induces abnormal circadian blood pressure variability

    Directory of Open Access Journals (Sweden)

    Kumarasamy Sivarajan

    2011-11-01

    Full Text Available Abstract Background Prediabetes (PreDM in asymptomatic adults is associated with abnormal circadian blood pressure variability (abnormal CBPV. Hypothesis Systemic inflammation and glycemia influence circadian blood pressure variability. Methods Dahl salt-sensitive (S rats (n = 19 after weaning were fed either an American (AD or a standard (SD diet. The AD (high-glycemic-index, high-fat simulated customary human diet, provided daily overabundant calories which over time lead to body weight gain. The SD (low-glycemic-index, low-fat mirrored desirable balanced human diet for maintaining body weight. Body weight and serum concentrations for fasting glucose (FG, adipokines (leptin and adiponectin, and proinflammatory cytokines [monocyte chemoattractant protein-1 (MCP-1 and tumor necrosis factor-α (TNF-α] were measured. Rats were surgically implanted with C40 transmitters and blood pressure (BP-both systolic; SBP and diastolic; DBP and heart rate (HR were recorded by telemetry every 5 minutes during both sleep (day and active (night periods. Pulse pressure (PP was calculated (PP = SBP-DBP. Results [mean(SEM]: The AD fed group displayed significant increase in body weight (after 90 days; p Conclusion These data validate our stated hypothesis that systemic inflammation and glycemia influence circadian blood pressure variability. This study, for the first time, demonstrates a cause and effect relationship between caloric excess, enhanced systemic inflammation, dysglycemia, loss of blood pressure control and abnormal CBPV. Our results provide the fundamental basis for examining the relationship between dysglycemia and perturbation of the underlying mechanisms (adipose tissue dysfunction induced local and systemic inflammation, insulin resistance and alteration of adipose tissue precursors for the renin-aldosterone-angiotensin system which generate abnormal CBPV.

  2. Binocular combination in abnormal binocular vision

    Science.gov (United States)

    Ding, Jian; Klein, Stanley A.; Levi, Dennis M.

    2013-01-01

    We investigated suprathreshold binocular combination in humans with abnormal binocular visual experience early in life. In the first experiment we presented the two eyes with equal but opposite phase shifted sine waves and measured the perceived phase of the cyclopean sine wave. Normal observers have balanced vision between the two eyes when the two eyes' images have equal contrast (i.e., both eyes contribute equally to the perceived image and perceived phase = 0°). However, in observers with strabismus and/or amblyopia, balanced vision requires a higher contrast image in the nondominant eye (NDE) than the dominant eye (DE). This asymmetry between the two eyes is larger than predicted from the contrast sensitivities or monocular perceived contrast of the two eyes and is dependent on contrast and spatial frequency: more asymmetric with higher contrast and/or spatial frequency. Our results also revealed a surprising NDE-to-DE enhancement in some of our abnormal observers. This enhancement is not evident in normal vision because it is normally masked by interocular suppression. However, in these abnormal observers the NDE-to-DE suppression was weak or absent. In the second experiment, we used the identical stimuli to measure the perceived contrast of a cyclopean grating by matching the binocular combined contrast to a standard contrast presented to the DE. These measures provide strong constraints for model fitting. We found asymmetric interocular interactions in binocular contrast perception, which was dependent on both contrast and spatial frequency in the same way as in phase perception. By introducing asymmetric parameters to the modified Ding-Sperling model including interocular contrast gain enhancement, we succeeded in accounting for both binocular combined phase and contrast simultaneously. Adding binocular contrast gain control to the modified Ding-Sperling model enabled us to predict the results of dichoptic and binocular contrast discrimination experiments

  3. Skeleton-Based Abnormal Gait Detection

    OpenAIRE

    Trong-Nguyen Nguyen; Huu-Hung Huynh; Jean Meunier

    2016-01-01

    Human gait analysis plays an important role in musculoskeletal disorder diagnosis. Detecting anomalies in human walking, such as shuffling gait, stiff leg or unsteady gait, can be difficult if the prior knowledge of such a gait pattern is not available. We propose an approach for detecting abnormal human gait based on a normal gait model. Instead of employing the color image, silhouette, or spatio-temporal volume, our model is created based on human joint positions (skeleton) in time series. ...

  4. Additional chromosome abnormalities in chronic myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Hui-Hua Hsiao

    2011-02-01

    Full Text Available The Philadelphia (Ph chromosome and/or Breakpoint cluster region-Abelson leukemia virus oncogene transcript are unique markers for chronic myeloid leukemia (CML. However, CML demonstrates heterogeneous presentations and outcomes. We analyzed the cytogenetic and molecular results of CML patients to evaluate their correlation with clinical presentations and outcome. A total of 84 newly diagnosed CML patients were enrolled in the study. Patients were treated according to disease status. Bone marrow samples were obtained to perform cytogenetic and molecular studies. Clinical presentations, treatment courses, and survival were reviewed retrospectively. Among 84 patients, 72 had chronic phase and 12 had accelerated phase CML. Cytogenetic study showed 69 (82.1% with the classic Ph chromosome, 6 (7.2% with a variant Ph chromosome, and 9 (10.7% with additional chromosome abnormalities. Fifty-four (64.3% cases harbored b3a2 transcripts, 29 (34.5% had b2a2 transcript, and 1 had e19a2 transcript. There was no difference in clinical presentations between different cytogenetic and molecular groups; however, additional chromosome abnormalities were significantly associated with the accelerated phase. Imatinib therapy was an effective treatment, as measured by cytogenetic response, when administered as first- and second-line therapy in chronic phase patients. Survival analysis showed that old age, additional chromosome abnormalities, high Sokal score, and no cytogenetic response in second-line therapy had a significant poor impact (p<0.05. In conclusion, we presented the cytogenetic and molecular pattern of CML patients and demonstrated that the additional chromosome abnormality was associated with poor outcome.

  5. Computed tomography in abnormalities of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Visser, J.D.; Jonkers, A.; Klasen, H.J. (Rijksuniversiteit Groningen (Netherlands). Academisch Ziekenhuis); Hillen, B. (Rijksuniversiteit Groningen (Netherlands). Lab. voor Anatomie en Embryologie)

    1982-06-26

    The value of computed tomography in the assessment of abnormalities of the hip is demonstrated with the aid of an anatomical preparation and in patients with, respectively, congenital dislocation of a hip, dislocation of the hip in spina bifida, an acetabular fracture and a Ewing tumour. The anteversion of the acetabulum and femur and the instability index of the hip joint can be measured by means of computed tomography.

  6. Chromosomal Abnormality in Men with Impaired Spermatogenesis

    OpenAIRE

    Dana Mierla; Dumitru Jardan; Veronica Stoian

    2014-01-01

    Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in ...

  7. A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients.

    Science.gov (United States)

    Suciu, Nicolae; Plaiasu, Vasilica

    2014-01-01

    Chromosome abnormalities represent the leading cause in many human genetic disorders. Gain or loss of genetic material can disrupt the normal expression of genes important in fetal development and result in abnormal phenotypes. Approximately 60% of first-trimester spontaneous abortions exhibit karyotype abnormalities. The majority of these abnormalities consist of numerical chromosomal changes, such as autosomal trisomy, monosomy X and polyploidy. In our current study, 411 cases were analyzed over a period of 5 years, which reflected the incidence of cytogenetic abnormalities in Romania. Down syndrome showed the highest frequency at 79%. At 2.6% structural chromosome abnormality syndromes and Turner syndrome followed suit. Next were the Edwards and Patau syndromes with an incidence of 1.2%. Klinefelter, Cri du chat and Wolf-Hirschhorn syndromes all had an incidence of 0.7%. Finally, the lowest frequencies were shown by Williams at 0.4% and only one case of Beckwith-Wiedemann syndrome with abnormal karyotype. The average maternal age at childbirth was 31.15 years (SD = 6.96) and the average paternal age was 33.41 years (SD = 7.17).

  8. [Nutritional abnormalities in chronic obstructive pulmonary disease].

    Science.gov (United States)

    Gea, Joaquim; Martínez-Llorens, Juana; Barreiro, Esther

    2014-07-22

    Nutritional abnormalities are associated with chronic obstructive pulmonary disease with a frequency ranging from 2 to 50%, depending on the geographical area and the study design. Diagnostic tools include anthropometry, bioelectrical impedance, dual energy radioabsortiometry and deuterium dilution, being the body mass and the lean mass indices the most frequently used parameters. While the most important consequences of nutritional abnormalities are muscle dysfunction and exercise limitation, factors implicated include an imbalance between caloric intake and consumption, and between anabolic and catabolic hormones, inflammation, tobacco smoking, poor physical activity, hypoxemia, some drugs and aging/comorbidities. The most important molecular mechanism for malnutrition associated with chronic obstructive pulmonary disease appears to be the mismatching between protein synthesis and breakdown. Among the therapeutic measures proposed for these nutritional abnormalities are improvements in lifestyle and nutritional support, although the use of anabolic drugs (such as secretagogues of the growth hormone) offers a new therapeutic strategy. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  9. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.

    Science.gov (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K

    2017-01-01

    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  10. Chromosomal Abnormality in Men with Impaired Spermatogenesis

    Directory of Open Access Journals (Sweden)

    Dana Mierla

    2014-03-01

    Full Text Available Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF region of Y chromosome was performed by multiplex polymerase chain reaction (PCR on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI or testicular sperm extraction (TESE/ICSI treatment.

  11. Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Chalmers Laura J

    2011-05-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences. Methods In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks, birth weight (kg, birth length (cm and parental heights (cm were obtained. Mid-parental height was considered in the analyses. Results Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (P > 0.05. The expected sex difference in favor of heavier males was not seen (P > 0.05. Of the 105 subjects, 44 (27%; 34 females, 10 males had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile, which differed from the expected standard population median of 50th percentile (P = 0.0082. The expected sex difference in favor of longer males was also not seen (P > 0.05. Conclusion The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who

  12. Linking abnormal mitosis to the acquisition of DNA damage

    Science.gov (United States)

    Pellman, David

    2012-01-01

    Cellular defects that impair the fidelity of mitosis promote chromosome missegregation and aneuploidy. Increasing evidence reveals that errors in mitosis can also promote the direct and indirect acquisition of DNA damage and chromosome breaks. Consequently, deregulated cell division can devastate the integrity of the normal genome and unleash a variety of oncogenic stimuli that may promote transformation. Recent work has shed light on the mechanisms that link abnormal mitosis with the development of DNA damage, how cells respond to such affronts, and the potential impact on tumorigenesis. PMID:23229895

  13. Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Liu, Yu-Ju; Tsai, Po-Yi; Chern, Yijuang

    2017-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that is clinically characterized by progressive muscle weakness and impaired voluntary movement due to the loss of motor neurons in the brain, brain stem and spinal cord. To date, no effective treatment is available. Ample evidence suggests that impaired RNA homeostasis and abnormal energy status are two major pathogenesis pathways in ALS. In the present review article, we focus on recent studies that report molecular insights of both pathways, and discuss the possibility that energy dysfunction might negatively regulate RNA homeostasis via the impairment of cytoplasmic-nuclear shuttling in motor neurons and subsequently contribute to the development of ALS. PMID:28522961

  14. Forest Fires Under Abnormal Weather Conditions in Central Siberia

    Directory of Open Access Journals (Sweden)

    E. N. Valendik

    2014-06-01

    Full Text Available Occurrence of forest fires and their development to large and catastrophic wildfires are considered for Central Siberia taiga subzones under abnormal drought conditions. The combination of natural conditions that determine the appearance and spread of these fires are given for drought conditions. A map of the large wildfires distribution in the boreal forest subzones of Central Siberia is compiled for 1979 to 2011. A brief analysis is made of dry periods and their relation to the planetary atmospheric processes, as well as the possibility of wildfires escalating in boreal forests and mountain forests of southern Siberia under climate warming.

  15. Electrocardiographic abnormalities in centenarians: impact on survival

    Directory of Open Access Journals (Sweden)

    Rabuñal-Rey Ramón

    2012-04-01

    Full Text Available Abstract Background The centenarian population is gradually increasing, so it is becoming more common to see centenarians in clinical practice. Electrocardiogram abnormalities in the elderly have been reported, but several methodological biases have been detected that limit the validity of their results. The aim of this study is to analyse the ECG abnormalities in a prospective study of the centenarian population and to assess their impact on survival. Method We performed a domiciliary visit, where a medical history, an ECG and blood analysis were obtained. Barthel index (BI, cognitive mini-exam (CME and Charlson index (ChI were all determined. Patients were followed up by telephone up until their death. Results A total of 80 centenarians were studied, 26 men and 64 women, mean age 100.8 (SD 1.3. Of these, 81% had been admitted to the hospital at least once in the past, 81.3% were taking drugs (mean 3.3, rank 0–11. ChI was 1.21 (SD 1.19. Men had higher scores both for BI (70 -SD 34.4- vs. 50.4 -SD 36.6-, P = .005 and CME (16.5 -SD 9.1- vs. 9.1 –SD 11.6-, P = .008; 40.3% of the centenarians had anaemia, 67.5% renal failure, 13% hyperglycaemia, 22.1% hypoalbuminaemia and 10.7% dyslipidaemia, without statistically significant differences regarding sex. Only 7% had a normal ECG; 21 (26.3% had atrial fibrillation (AF, 30 (37.5% conduction defects and 31 (38.8% abnormalities suggestive of ischemia, without sex-related differences. A history of heart disease was significantly associated with the presence of AF (P = .002, OR 5.2, CI 95% 1.8 to 15.2 and changes suggestive of ischemia (P = .019, OR 3.2, CI 95% 1.2-8.7. Mean survival was 628 days (SD 578.5, median 481 days. Mortality risk was independently associated with the presence of AF (RR 2.0, P = .011, hyperglycaemia (RR 2.2, P = .032, hypoalbuminaemia (RR 3.5, P P = .024. Conclusion Although ECG abnormalities are common in centenarians, they are not related to

  16. Quantification and discrimination of abnormal sulcal patterns in polymicrogyria.

    Science.gov (United States)

    Im, Kiho; Pienaar, Rudolph; Paldino, Michael J; Gaab, Nadine; Galaburda, Albert M; Grant, P Ellen

    2013-12-01

    Polymicrogyria (PMG) is a malformation of cortical development characterized by an irregular gyral pattern and its diagnosis and severity have been qualitatively judged by visual inspection of imaging features. We aimed to provide a quantitative description of abnormal sulcal patterns for individual PMG brains using our sulcal graph-based analysis and examined the association with language impairment. The sulcal graphs were constructed from magnetic resonance images in 26 typical developing and 18 PMG subjects and the similarity between sulcal graphs was computed by using their geometric and topological features. The similarities between typical and PMG groups were significantly lower than the similarities measured within the typical group. Furthermore, more lobar regions were determined to be abnormal in most patients when compared with the visual diagnosis of PMG involvement, suggesting that PMG may have more global effects on cortical folding than previously expected. Among the PMG, the group with intact language development showed sulcal patterns more closely matched with the typical than the impaired group in the left parietal lobe. Our approach shows the potential to provide a quantitative means for detecting the severity and extent of involvement of cortical malformation and a greater understanding of genotype-phenotype and clinical-imaging features correlations.

  17. Abnormality of Auricular Muscles in Congenital Auricular Deformities.

    Science.gov (United States)

    Yotsuyanagi, Takatoshi; Yamauchi, Makoto; Yamashita, Ken; Sugai, Asuka; Gonda, Ayako; Kitada, Ayaka; Saito, Tamotsu; Urushidate, Satoshi

    2015-07-01

    It has been suggested that there is a close association of abnormality in auricular muscles with various congenital auricular deformities. However, there has been no investigation to determine what muscles are involved and how they affect the deformity. The authors examined abnormalities of auricular muscles for patients with various auricular deformities. The authors examined 77 auricles of 62 patients with congenital auricular deformities, including cryptotia, Stahl's ear, prominent ear, lop ear, and others. The superior and posterior auricular muscles from the extrinsic auricular muscle group and the auricular oblique and transverse muscles from the auricular intrinsic muscle group were investigated. The authors found characteristic features of the abnormality of the muscle for each auricular deformity. In nearly all cases of cryptotia, abnormality was found in the superior auricular, auricular oblique, and auricular transverse muscles. Abnormal insertion was found mainly in the superior auricular muscle and was the main cause of cryptotia. In Stahl's ear, the major abnormality was abnormal insertion of the auricular transverse muscle, which creates an abnormal cartilaginous prominence in the scapha. The abnormality in cases of prominent ear was clearly limited mostly to the auricular transverse muscle and, in some cases, to the posterior auricular muscle. In lop ear, abnormality was mostly found in the auricular transverse muscle, with elongation, and in the superior auricular or auricular oblique muscle in some cases. There is a tendency for a specific muscle abnormality to be found in each deformity. It is important to identify the abnormal muscle and correct the abnormality during the operation.

  18. Abnormal anal cytology risk in women with known genital squamous intraepithelial lesion.

    Science.gov (United States)

    do Socorro Nobre, Maria; Jacyntho, Claudia Marcia; Eleutério, José; Giraldo, Paulo César; Gonçalves, Ana Katherine

    2016-01-01

    The purpose of this study was to assess the risk of abnormal anal cytology in women with known genital squamous intraepithelial lesion. This study evaluated 200 women with and without genital squamous intraepithelial lesion who were recruited for anal Pap smears. Women who had abnormal results on equally or over atypical squamous cells of undetermined significance were classified as having abnormal anal cytology. A multiple logistic regression analysis (stepwise) was performed to identify the risk for developing abnormal anal cytology. Data were analyzed using the SPSS 20.0 program. The average age was 41.09 (±12.64). Of the total participants, 75.5% did not practice anal sex, 91% did not have HPV-infected partners, 92% did not have any anal pathology, and 68.5% did not have anal bleeding. More than half (57.5%) had genital SIL and a significant number developed abnormal anal cytology: 13% in the total sample and 17.4% in women with genital SIL. A significant association was observed between genital squamous intraepithelial lesion and anal squamous intraepithelial lesion (PR=2.46; p=0.03). In the logistic regression model, women having genital intraepithelial lesion were more likely to have abnormal anal Pap smear (aPR=2.81; p=0.02). This report shows that women with genital squamous intraepithelial lesion must be more closely screened for anal cancer. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

  19. Abnormal anal cytology risk in women with known genital squamous intraepithelial lesion

    Directory of Open Access Journals (Sweden)

    Maria do Socorro Nobre

    2016-05-01

    Full Text Available The purpose of this study was to assess the risk of abnormal anal cytology in women with known genital squamous intraepithelial lesion. This study evaluated 200 women with and without genital squamous intraepithelial lesion who were recruited for anal Pap smears. Women who had abnormal results on equally or over atypical squamous cells of undetermined significance were classified as having abnormal anal cytology. A multiple logistic regression analysis (stepwise was performed to identify the risk for developing abnormal anal cytology. Data were analyzed using the SPSS 20.0 program. The average age was 41.09 (±12.64. Of the total participants, 75.5% did not practice anal sex, 91% did not have HPV-infected partners, 92% did not have any anal pathology, and 68.5% did not have anal bleeding. More than half (57.5% had genital SIL and a significant number developed abnormal anal cytology: 13% in the total sample and 17.4% in women with genital SIL. A significant association was observed between genital squamous intraepithelial lesion and anal squamous intraepithelial lesion (PR = 2.46; p = 0.03. In the logistic regression model, women having genital intraepithelial lesion were more likely to have abnormal anal Pap smear (aPR = 2.81; p = 0.02. This report shows that women with genital squamous intraepithelial lesion must be more closely screened for anal cancer.

  20. Phenotype abnormality: 41 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 41 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u547i abnormal for trait of behavioral...ganelle ... abnormal ... anatomical structure arrangement ... behavioral quality

  1. Phenotype abnormality: 36 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 36 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u542i abnormal for trait of behavioral...tyledon ... abnormal ... anatomical structure arrangement ... behavioral quality

  2. Phenotype abnormality: 38 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 38 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u544i abnormal for trait of behavioral...idermis ... abnormal ... anatomical structure arrangement ... behavioral quality

  3. Sperm chromosomal abnormalities in patients with unexplained recurrent abortions.

    Science.gov (United States)

    Al-Hassan, S; Hellani, A; Al-Shahrani, A; Al-Deery, M; Jaroudi, K; Coskun, S

    2005-01-01

    Cytogenetic studies showed that about half of concepti were chromosomally abnormal in first trimester abortions. Sperm chromosomal abnormalities in men with normal karyotype could occur during spermatogenesis. The objective of this study was to evaluate sperm chromosomal abnormalities in patients with unexplained recurrent abortions. A total of 14 couples with normal karyotype, and negative workup for endocrine, immune and anatomical causes of recurrent abortion was investigated. Semen analysis was performed and chromosomal abnormalities were assessed by fluorescent in situ hybridization for chromosomes 13, 18, 21, X and Y. The average number of abortions was 5.8. The incidence of chromosomal abnormalities was 16.5% that was higher when compared to baseline (4.6%). In conclusion, a high rate of sperm chromosomal abnormalities was observed in recurrent abortion patients. These abnormalities might form during spermatogenesis since all patients had normal karyotype. Sperm chromosomal abnormality analysis can be included into recurrent abortion workup when no other cause is detected.

  4. Phenotype abnormality: 73 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 73 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u579i abnormal for trait of morphology... in organ named vascular system ... vascular system ... abnormal ... morphology

  5. Phenotype abnormality: 61 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 61 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u567i abnormal for trait of morphology... in organ named obsolete microgametophyte ... obsolete microgametophyte ... abnormal ... morphology

  6. Detecting Kidney and Urinary Tract Abnormalities Before Birth

    Science.gov (United States)

    ... A to Z Health Guide Detecting Kidney and Urinary Tract Abnormalities Before Birth Print Email Ultrasound examinations are ... impact on the child's overall health. What causes urinary tract abnormalities to occur before birth? In about one ...

  7. Acute Radiological Abnormalities after Bronchial Thermoplasty: A Prospective Cohort Trial

    NARCIS (Netherlands)

    d'Hooghe, Julia N. S.; van den Berk, Inge A. H.; Annema, Jouke T.; Bonta, Peter I.

    2017-01-01

    Background: Bronchial thermoplasty (BT) is a novel treatment for severe asthma based on radiofrequency energy delivery to the larger airways. Although impressive radiological abnormalities have been reported, the incidence, pattern, and behavior over time of acute radiological abnormalities

  8. Comparisons of stomatal parameters between normal and abnormal ...

    African Journals Online (AJOL)

    ED), guard cell length (GCL) and guard cell width (GCW) of normal and abnormal leaf of Bougainvillea spectabilis Willd were studied. This can be useful for further research of physical mechanism of abnormal leaf. Epidermal cells were ...

  9. Chromosome abnormalities in primary ovarian cancer

    Energy Technology Data Exchange (ETDEWEB)

    Yonescu, R.; Currie, J.; Griffin, C.A. [John Hopkins Univ., Baltimore, MD (United States)

    1994-09-01

    Chromosome abnormalities that are specific and recurrent may occur in regions of the genome that are involved in the conversion of normal cells to those with tumorigenic potential. Ovarian cancer is the primary cause of death among patients with gynecological malignancies. We have performed cytogenetic analysis of 16 ovarian tumors from women age 28-82. Three tumors of low malignant potential and three granulosa cell tumors had normal karyotypes. To look for the presence of trisomy 12, which has been suggested to be a common aberration in this group of tumors, interphase fluorescence in situ hybridization was performed on direct preparations from three of these tumors using a probe for alpha satellite sequences of chromosome 12. In the 3 preparations, 92-98 percent of the cells contained two copies of chromosome 12, indicating that trisomy 12 is not a universal finding in low grade ovarian tumors. Endometrioid carcinoma of the ovary is histologically indistinguishable from endometial carcinoma of the uterus. We studied 10 endometrioid tumors to determine the degree of genetic similarity between these two carcinomas. Six out of ten endometrioid tumors showed a near-triploid modal number, and one presented with a tetraploid modal number. Eight of the ten contained structural chromosome abnormalities, of which the most frequent were 1p- (5 tumors), 19q+ (3 tumors), 6q- or ins(6) (4 tumors), 3q- or 3q+ (4 tumors). These cytogenetic results resemble those reported for papillary ovarian tumors and differ from those of endometrial carcinoma of the uterus. We conclude that despite the histologic similarities between the endometrioid and endometrial carcinomas, the genetic abnormalities in the genesis of these tumors differ significantly.

  10. Haematological abnormalities in systemic lupus erythematosus.

    Science.gov (United States)

    Aleem, Aamer; Al Arfaj, Abdurahman Saud; khalil, Najma; Alarfaj, Husain

    2014-01-01

    This study was conducted to evaluate the frequency and pattern of haematological abnormalities (HA) in SLE patients at the time of diagnosis and last follow-up, and their relationship with organ involvement. This retrospective study included patients who were diagnosed and treated for SLE from 1982 to 2008 at King Khalid University hospital, Riyadh. Demographic and haematological parameters at diagnosis and the last follow-up, disease manifestations, organ involvement and clinical hematological complications were recorded. Association of HA with organ involvement was explored by multivariate analysis. A total of 624 patients (90.7% females, mean age 34.3±11.9 years) were studied. HA were present in 516 (82.7 %) patients at the time of diagnosis. Anemia was the most frequent HA in 63.0% patients followed by lymphopenia in 40.3%, leukopenia in 30.0%, thrombocytopenia in 10.9% and autoimmune hemolytic anemia (AIHA) in 4.6% patients. Deep vein thrombosis and pulmonary embolism were diagnosed in 7.4% and 2.6% patients respectively. After a mean follow-up of 9.3±5.3 years, 329/491 (67%) patients still had some HA present. Anemia remained the most common abnormality (51.7% patients) followed by lymphopenia in 33.1%, and thrombocytopenia in 4.8% patients. Leucopenia was associated with oral ulcers (p=0.021) and alopecia (p=0.031), anemia with renal disease (p=0.017), AIHA with neurological involvement (p=0.003), elevated IgG with malar rash (p=0.027), and low C3 with serositis (p=0.026). HA are very common at the time of diagnosis and during follow-up in SLE, and some of these abnormalities are associated with organ damage. This information may help in better management planning of SLE patients.

  11. Skeletal abnormalities of acrogeria, a progeroid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  12. Ovarian abnormalities in the staggerer mutant mouse.

    Science.gov (United States)

    Guastavino, Jean-Marie; Boufares, Salima; Crusio, Wim E

    2005-08-24

    Disturbances in several reproductive functions of the staggerer cerebellar mutant mouse have been observed. In this study, reproductive efficiency of staggerer mice was compared to normal mice by recording the number of pups produced and the number of oocytes occurring. It was found that staggerer mothers produced smaller litters than controls and the number of oocytes produced in their ovaries was reduced by the staggerer mutation. These results indicate a pleiotropic effect on fertility of the Rora(sg) gene underlying the cerebellar abnormalities of the staggerer mutant.

  13. Ovarian Abnormalities in the Staggerer Mutant Mouse

    Directory of Open Access Journals (Sweden)

    Jean-Marie Guastavino

    2005-01-01

    Full Text Available Disturbances in several reproductive functions of the staggerer cerebellar mutant mouse have been observed. In this study, reproductive efficiency of staggerer mice was compared to normal mice by recording the number of pups produced and the number of oocytes occurring. It was found that staggerer mothers produced smaller litters than controls and the number of oocytes produced in their ovaries was reduced by the staggerer mutation. These results indicate a pleiotropic effect on fertility of the Rorasg gene underlying the cerebellar abnormalities of the staggerer mutant.

  14. Radiological and orthopedic abnormalities in Satoyoshi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Haymon, M.L. [Children`s Hospital, New Orleans, LA (United States). Dept. of Radiology; Willis, R.B. [Children`s Hospital, New Orleans, LA (United States). Dept. of Orthopedics; Ehlayel, M.S. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics; Lacassie, Y. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics]|[Children`s Hospital, New Orleans, LA (United States). Dept. of Pediatrics

    1997-05-01

    Satoyoshi syndrome is a are disorder on unknown etiology characterized by progressive, painful intermittent muscle spasms, serve skeletal abnormalities mimicking a skeletal dyplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20{sup 1}/{sub 2}-year-old Caucasian woman whith characteristic manifestation of the syndrome. Since the establishment of the diagnostic 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.

  15. Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy

    OpenAIRE

    Chih-Ping Chen

    2007-01-01

    Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploi...

  16. Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy

    OpenAIRE

    Goetzl, Laura

    2010-01-01

    Women with abnormal first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency >3.5mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities and other structural abnormalities. Abnormal first trimester analytes are also associated with adverse pregnancy outcomes but the predictive value is less impressive. As a single marker, PAPP-A

  17. THE ROLE OF NUTRIGENOMICS IN CORRECTION OF METABOLIC ABNORMALITIES

    Directory of Open Access Journals (Sweden)

    I. V. Misnikova

    2015-01-01

    Full Text Available In some patients, diet and increased physical exercise are not effective enough to prevent the development of type 2 diabetes mellitus. At present, a  new approach is proposed to elaborate the diet with consideration of specific need of an individual. Food components can cause changes in metabolism through their influence on activity of certain genes that subsequently influence human proteome and metabolome. It is assumed that nutrients may influence methylation of deoxyribonucleic acid. A number of studies established an interaction between some foods and genes associated with obesity and type 2 diabetes mellitus. Diet recommendations based on presence of certain gene polymorphisms have been developed. The spectrum of gene polymorphisms that is necessary to assess in individuals with metabolic abnormalities or with high risk of their development has been also defined.

  18. Linear scleroderma en coup de sabre including abnormal dental development

    DEFF Research Database (Denmark)

    Hørberg, M; Lauesen, S R; Daugaard-Jensen, J

    2015-01-01

    . A paediatric dentist may be the first medical person to identify SCS by its involvement in dentition. It is assumed that the malformation of a dentition could be associated with the severity of the skin deviation. CASE REPORT: A 6-year and 10-month-old Turkish girl with a history of SCS was referred for dental...

  19. Looking in the mirror: images of abnormally developed infants.

    Science.gov (United States)

    Starr, Ann

    2005-01-01

    Observational drawing provides a means of focusing on anomalous infant bodies. Time required by drawing connects the artist to the humanity of the subjects rather than to the deformities that make them, initially, frightening.

  20. Myocardial perfusion abnormalities in asymptomatic type 2 diabetic patients

    Directory of Open Access Journals (Sweden)

    Ghada Al-Humaidi

    2018-01-01

    Conclusions: We found a high prevalence of myocardial perfusion abnormalities in asymptomatic type 2 diabetic patients. Perfusion abnormalities on myocardial perfusion SPECT images were associated with disease duration, insulin use, nephropathy, and neuropathy. Asymptomatic diabetic patients might be candidates with CAD abnormalities that can be studied using myocardial perfusion SPECT.

  1. ECG classification and abnormality detection using cascade forward ...

    African Journals Online (AJOL)

    This paper describes the use of MATLAB based artificial neural network tools for ECG analysis for finding out whether the ECG is normal or abnormal and if it is abnormal, what is the abnormality. There are various arrhythmia like Ventricular premature beats, asystole, couplet, bigeminy, fusion beats etc. To classify this,

  2. Prevalence of cervical cytology abnormalities among HIV infected ...

    African Journals Online (AJOL)

    Objectives: To establish the prevalence of cervical cytology abnormalities, determine the correlation between CD4+ cell count and abnormal Pap smear, determine the correlation between WHO-HIV staging and abnormal pap smear among HIV infected women attending HIV clinic at Rwanda Military Hospital. Design: ...

  3. Association of posterior tibial tendon abnormalities with abnormal signal intensity in the sinus tarsi on MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Anderson, M.W. [Virginia Univ., Charlottesville, VA (United States). Dept. of Radiology; Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery; Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States). Dept. of Radiology; Kaplan, P.A.; Dussault, R.G. [Virginia Univ., Charlottesville, VA (United States). Dept. of Radiology; Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery; Hurwitz, S. [Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery

    2000-09-01

    Objective. To evaluate the association of abnormal signal intensity within the sinus tarsi with abnormalities of the posterior tibial tendon (PTT) on MR imaging. Design and patients. Sinus tarsi abnormalities were identified on 30 ankle MR examinations in 29 patients. The PTT and anterior talofibular ligament were retrospectively analyzed for abnormalities in these same patients. Results and conclusions. Tears of the anterior talofibular ligament were found in 13 of 30 (43%) ankles. PTT abnormalities (complete tear, partial tear or dislocation) were seen in 14 of 30 (47%) studies, and were distributed relatively equally between those patients with and without lateral ligament tears. Our results provide evidence of an association between abnormalities of the PTT and the sinus tarsi. The finding of abnormal signal intensity within the sinus tarsi on MR imaging should alert the radiologist to potential abnormalities of the PTT. (orig.)

  4. Ventricular shape and relative position abnormalities in preterm neonates.

    Science.gov (United States)

    Paquette, N; Shi, J; Wang, Y; Lao, Y; Ceschin, R; Nelson, M D; Panigrahy, A; Lepore, N

    2017-01-01

    Recent neuroimaging findings have highlighted the impact of premature birth on subcortical development and morphological changes in the deep grey nuclei and ventricular system. To help characterize subcortical microstructural changes in preterm neonates, we recently implemented a multivariate tensor-based method (mTBM). This method allows to precisely measure local surface deformation of brain structures in infants. Here, we investigated ventricular abnormalities and their spatial relationships with surrounding subcortical structures in preterm neonates. We performed regional group comparisons on the surface morphometry and relative position of the lateral ventricles between 19 full-term and 17 preterm born neonates at term-equivalent age. Furthermore, a relative pose analysis was used to detect individual differences in translation, rotation, and scale of a given brain structure with respect to an average. Our mTBM results revealed broad areas of alterations on the frontal horn and body of the left ventricle, and narrower areas of differences on the temporal horn of the right ventricle. A significant shift in the rotation of the left ventricle was also found in preterm neonates. Furthermore, we located significant correlations between morphology and pose parameters of the lateral ventricles and that of the putamen and thalamus. These results show that regional abnormalities on the surface and pose of the ventricles are also associated with alterations on the putamen and thalamus. The complementarity of the information provided by the surface and pose analysis may help to identify abnormal white and grey matter growth, hinting toward a pattern of neural and cellular dysmaturation.

  5. Ventricular shape and relative position abnormalities in preterm neonates

    Directory of Open Access Journals (Sweden)

    N. Paquette

    2017-01-01

    Full Text Available Recent neuroimaging findings have highlighted the impact of premature birth on subcortical development and morphological changes in the deep grey nuclei and ventricular system. To help characterize subcortical microstructural changes in preterm neonates, we recently implemented a multivariate tensor-based method (mTBM. This method allows to precisely measure local surface deformation of brain structures in infants. Here, we investigated ventricular abnormalities and their spatial relationships with surrounding subcortical structures in preterm neonates. We performed regional group comparisons on the surface morphometry and relative position of the lateral ventricles between 19 full-term and 17 preterm born neonates at term-equivalent age. Furthermore, a relative pose analysis was used to detect individual differences in translation, rotation, and scale of a given brain structure with respect to an average. Our mTBM results revealed broad areas of alterations on the frontal horn and body of the left ventricle, and narrower areas of differences on the temporal horn of the right ventricle. A significant shift in the rotation of the left ventricle was also found in preterm neonates. Furthermore, we located significant correlations between morphology and pose parameters of the lateral ventricles and that of the putamen and thalamus. These results show that regional abnormalities on the surface and pose of the ventricles are also associated with alterations on the putamen and thalamus. The complementarity of the information provided by the surface and pose analysis may help to identify abnormal white and grey matter growth, hinting toward a pattern of neural and cellular dysmaturation.

  6. Abnormal mandibular growth and the condylar cartilage.

    Science.gov (United States)

    Pirttiniemi, Pertti; Peltomäki, Timo; Müller, Lukas; Luder, Hans U

    2009-02-01

    Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular level. The aim of this review is to summarize recent progress in the understanding of pathological alterations occurring during childhood and adolescence that affect the temporomandibular joint (TMJ) and, hence, result in disorders of mandibular growth. Pathological conditions taken into account are subdivided into (1) congenital malformations with associated growth disorders, (2) primary growth disorders, and (3) acquired diseases or trauma with associated growth disorders. Among the congenital malformations, hemifacial microsomia (HFM) appears to be the principal syndrome entailing severe growth disturbances, whereas growth abnormalities occurring in conjunction with other craniofacial dysplasias seem far less prominent than could be anticipated based on their often disfiguring nature. Hemimandibular hyperplasia and elongation undoubtedly constitute the most obscure conditions that are associated with prominent, often unilateral, abnormalities of condylar, and mandibular growth. Finally, disturbances of mandibular growth as a result of juvenile idiopathic arthritis (JIA) and condylar fractures seem to be direct consequences of inflammatory and/or mechanical damage to the condylar cartilage.

  7. Skeleton-Based Abnormal Gait Detection

    Directory of Open Access Journals (Sweden)

    Trong-Nguyen Nguyen

    2016-10-01

    Full Text Available Human gait analysis plays an important role in musculoskeletal disorder diagnosis. Detecting anomalies in human walking, such as shuffling gait, stiff leg or unsteady gait, can be difficult if the prior knowledge of such a gait pattern is not available. We propose an approach for detecting abnormal human gait based on a normal gait model. Instead of employing the color image, silhouette, or spatio-temporal volume, our model is created based on human joint positions (skeleton in time series. We decompose each sequence of normal gait images into gait cycles. Each human instant posture is represented by a feature vector which describes relationships between pairs of bone joints located in the lower body. Such vectors are then converted into codewords using a clustering technique. The normal human gait model is created based on multiple sequences of codewords corresponding to different gait cycles. In the detection stage, a gait cycle with normality likelihood below a threshold, which is determined automatically in the training step, is assumed as an anomaly. The experimental results on both marker-based mocap data and Kinect skeleton show that our method is very promising in distinguishing normal and abnormal gaits with an overall accuracy of 90.12%.

  8. Protruding labia minora: abnormal or just uncool?

    Science.gov (United States)

    Michala, Lina; Koliantzaki, Sofia; Antsaklis, Aris

    2011-09-01

    There is a wide variety in the appearance of normal female external genitalia. Nevertheless a specific prototype is promoted by the media, leading to a false sense that all other appearances are abnormal. As adolescents become sexually aware at an earlier age, most of them are worried about the appearance of their genitalia, especially when labia minora protrude beyond labia majora. This is a prospective audit of adolescents presenting for assessment of their perceived abnormal genitalia. Sixteen girls aged 10.2 to 17.8 years presented between June 2009 and December 2010 to a specialist adolescent gynecology service. Their mean labial width was 36 mm (range: 20-55 mm). In six girls, the reason for attending the service was inequality of the size of labia ranging between 6 mm and 35 mm (mean of 20 mm). Among the remaining 10 girls, the concern had arisen through comparison with a prepubescent sibling (one case), change of genitalia during puberty (four cases), looking at internet pictures (four cases), and looking at an anatomy book (one case). Risks of Female Genital Cosmetic Surgery (FGCS) have not been adequately documented, especially with regards to sexual function and long-term patient satisfaction. External genitalia are likely to change during puberty and therefore, any genital operation in the absence of clear pathology should be deferred until adulthood. Even then, women should have clear expectations of what will be achieved with the operation in terms of appearance and function.

  9. Skeleton-Based Abnormal Gait Detection.

    Science.gov (United States)

    Nguyen, Trong-Nguyen; Huynh, Huu-Hung; Meunier, Jean

    2016-10-26

    Human gait analysis plays an important role in musculoskeletal disorder diagnosis. Detecting anomalies in human walking, such as shuffling gait, stiff leg or unsteady gait, can be difficult if the prior knowledge of such a gait pattern is not available. We propose an approach for detecting abnormal human gait based on a normal gait model. Instead of employing the color image, silhouette, or spatio-temporal volume, our model is created based on human joint positions (skeleton) in time series. We decompose each sequence of normal gait images into gait cycles. Each human instant posture is represented by a feature vector which describes relationships between pairs of bone joints located in the lower body. Such vectors are then converted into codewords using a clustering technique. The normal human gait model is created based on multiple sequences of codewords corresponding to different gait cycles. In the detection stage, a gait cycle with normality likelihood below a threshold, which is determined automatically in the training step, is assumed as an anomaly. The experimental results on both marker-based mocap data and Kinect skeleton show that our method is very promising in distinguishing normal and abnormal gaits with an overall accuracy of 90.12%.

  10. First trimester ultrasound screening of chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Trninić-Pjević Aleksandra

    2007-01-01

    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  11. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

    Directory of Open Access Journals (Sweden)

    Megan L. McGill

    2014-01-01

    Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

  12. Abnormal Fixational Eye Movements in Amblyopia.

    Science.gov (United States)

    Shaikh, Aasef G; Otero-Millan, Jorge; Kumar, Priyanka; Ghasia, Fatema F

    2016-01-01

    Fixational saccades shift the foveal image to counteract visual fading related to neural adaptation. Drifts are slow eye movements between two adjacent fixational saccades. We quantified fixational saccades and asked whether their changes could be attributed to pathologic drifts seen in amblyopia, one of the most common causes of blindness in childhood. Thirty-six pediatric subjects with varying severity of amblyopia and eleven healthy age-matched controls held their gaze on a visual target. Eye movements were measured with high-resolution video-oculography during fellow eye-viewing and amblyopic eye-viewing conditions. Fixational saccades and drifts were analyzed in the amblyopic and fellow eye and compared with controls. We found an increase in the amplitude with decreased frequency of fixational saccades in children with amblyopia. These alterations in fixational eye movements correlated with the severity of their amblyopia. There was also an increase in eye position variance during drifts in amblyopes. There was no correlation between the eye position variance or the eye velocity during ocular drifts and the amplitude of subsequent fixational saccade. Our findings suggest that abnormalities in fixational saccades in amblyopia are independent of the ocular drift. This investigation of amblyopia in pediatric age group quantitatively characterizes the fixation instability. Impaired properties of fixational saccades could be the consequence of abnormal processing and reorganization of the visual system in amblyopia. Paucity in the visual feedback during amblyopic eye-viewing condition can attribute to the increased eye position variance and drift velocity.

  13. Ergonomics for enhancing detection of machine abnormalities.

    Science.gov (United States)

    Illankoon, Prasanna; Abeysekera, John; Singh, Sarbjeet

    2016-10-17

    Detecting abnormal machine conditions is of great importance in an autonomous maintenance environment. Ergonomic aspects can be invaluable when detection of machine abnormalities using human senses is examined. This research outlines the ergonomic issues involved in detecting machine abnormalities and suggests how ergonomics would improve such detections. Cognitive Task Analysis was performed in a plant in Sri Lanka where Total Productive Maintenance is being implemented to identify sensory types that would be used to detect machine abnormalities and relevant Ergonomic characteristics. As the outcome of this research, a methodology comprising of an Ergonomic Gap Analysis Matrix for machine abnormality detection is presented.

  14. Pengaruh Pengungkapan Corporate Social Responsibility Terhadap Abnormal Return

    Directory of Open Access Journals (Sweden)

    Megawati Cheng

    2011-01-01

    Full Text Available Penelitian ini bertujuan mengetahui pengaruh pengungkapan corporate social responsibility (CSR terhadap abnormal return. Penelitian ini menggunakan variabel kontrol return on equity (ROE dan price to book value (PBV. Pengukuran pengungkapan CSR didasarkan pada Global Reporting Initiative (GRI. Sedangkan, abnormal return dihitung dengan menggunakan market adjusted model. Penelitian dilakukan terhadap laporan tahunan 40 perusahaan sumber daya alam yang terdaftar di Bursa Efek Indonesia pada tahun 2007-2009. Hasil penelitian menunjukkan bahwa pengungkapan CSR berpengaruh signifikan terhadap abnormal return yang menandakan bahwa investor mempertimbangkan informasi CSR untuk membuat keputusan. Variabel kontrol ROE berpengaruh signifikan negatif terhadap abnormal return. Sedangkan, Variabel kontrol PBV tidak berpengaruh signifikan terhadap abnormal return.

  15. Fault diagnosis of CMOS LSI with various leakage current state using abnormal IDDQ phenomenon

    Science.gov (United States)

    Sanada, Masaru; Fujioka, Hiromu

    1998-08-01

    Abnormal IDDQ is the signal to indicate the presence of physical damage in a circuit. By using this phenomenon, a CAD-based fault diagnosis technique has been developed for CMOS-LSI with various leakage current state. This method of progressively reducing the faulty block works by extracting inner logic state of each block, which composes hierarchical circuit and LSI circuit, from logic simulation and by deriving test vector numbers with abnormal IDDQ. Two kinds of complex leakage state are abnormal state of LSI with penetration current from VDD to GND in normal state and with multiple faults. At the former state, test vector numbers with true abnormal IDDQ are extracted by subtracting operation between normal and unusual current value, and the latter, by classification of multiple values. The fundamental diagnosis technique employs the comparative operation of each block to determine whether the same input logic state with abnormal IDDQ exists in the input logic state with normal IDDQ or not. The former block is regarded as normal block and the latter is as faulty block. This diagnosis method for LSI with various leakage current state detects easily the faulty blocks of each abnormal IDDQ state.

  16. Antecedents of Abnormally Invasive Placenta in Primiparous Women: Risk Associated With Gynecologic Procedures.

    Science.gov (United States)

    Baldwin, Heather J; Patterson, Jillian A; Nippita, Tanya A; Torvaldsen, Siranda; Ibiebele, Ibinabo; Simpson, Judy M; Ford, Jane B

    2018-02-01

    To evaluate the association between prior invasive gynecologic procedures and the risk of subsequent abnormally invasive placenta (ie, placenta accreta, increta, and percreta). We conducted a population-based data linkage study including all primiparous women who delivered in New South Wales, Australia, between 2003 and 2012. Data were obtained from linked birth and hospital admissions with a minimum lookback period of 2 years. Prior procedures invasive of the uterus were considered including gynecologic laparoscopy with instrumentation of the uterus; hysteroscopy, including operative hysteroscopy; curettage, including suction curettage and surgical termination; and endometrial ablation. Modified Poisson regression was used to determine the association between the number of prior gynecologic procedures and risk of abnormally invasive placenta. Eight hundred fifty-four cases of abnormally invasive placenta were identified among 380,775 deliveries included in the study (22.4/10,000). In total, 33,296 primiparous women had at least one prior procedure (8.7%). Among women with abnormally invasive placenta, 152 (17.8%) had undergone at least one procedure compared with 33,144 (8.7%) among women without abnormally invasive placenta (Pinvasive placenta was also positively associated with maternal age, socioeconomic advantage, mother being Australia-born, placenta previa, hypertension, multiple births, use of assisted reproductive technology, and female fetal sex. Women with a history of prior invasive gynecologic procedures were more likely to develop abnormally invasive placenta. These insights may be used to inform management of pregnancies in women with a history of gynecologic procedures.

  17. Liver Function Test Abnormalities in Patients with Inflammatory Bowel Diseases: A Hospital-based Survey

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    Maria Cappello

    2014-07-01

    Full Text Available Background and Aims Inflammatory bowel diseases (IBD are frequently associated with altered liver function tests (LFTs. The causal relationship between abnormal LFTs and IBD is unclear. The aim of our study was to evaluate the prevalence and etiology of LFTs abnormalities and their association with clinical variables in a cohort of IBD patients followed up in a single center. Materials and Methods A retrospective review was undertaken of all consecutive IBD in- and outpatients routinely followed up at a single referral center. Clinical and demographic parameters were recorded. Subjects were excluded if they had a previous diagnosis of chronic liver disease. LFT abnormality was defined as an increase in aspartate aminotransferase, (AST, alanine aminotransferase (ALT, alkaline phosphatase (ALP, gamma-glutamyl transpeptidase (GGT, or total bilirubin. Results A cohort of 335 patients (179 males, mean age 46.0 ± 15.6 years was analyzed. Abnormal LFTs were detected in 70 patients (20.9%. In most cases, the alterations were mild and spontaneously returned to normal values in about 60% of patients. Patients with abnormal LFTs were less frequently on treatment with aminosalicylates (22.8 vs. 36.6%, P = 0.04. The most frequent cause for transient abnormal LFTs was drug-induced cholestasis (34.1%, whereas fatty liver was the most frequent cause of persistent liver damage (65.4%. A cholestatic pattern was found in 60.0% of patients and was mainly related to older age, longer duration of disease, and hypertension. Conclusions The prevalence of LFT abnormalities is relatively high in IBD patients, but the development of severe liver injury is exceptional. Moreover, most alterations of LFTs are mild and spontaneously return to normal values. Drug-induced hepatotoxicity and fatty liver are the most relevant causes of abnormal LFTs in patients with IBD.

  18. Genetic Abnormalities in Oral Leukoplakia and Oral Cancer Progression.

    Science.gov (United States)

    Kil, Tae Jun; Kim, Hyun Sil; Kim, Hyung Jun; Nam, Woong; Cha, In-Ho

    2016-01-01

    The cancer progression of oral leukoplakia is an important watchpoint in the follow-up observation of the patients. However, potential malignancies of oral leukoplakia cannot be estimated by histopathologic assessment alone. We evaluated genetic abnormalities at the level of copy number variation (CNV) to investigate the risk for developing cancer in oral leukoplakias. The current study used 27 oral leukoplakias with histological evidence of dysplasia. The first group (progressing dysplasia) consisted of 7 oral lesions from patients with later progression to cancer at the same site. The other group (non- progressing dysplasia) consisted of 20 lesions from patients with no occurrence of oral cancer and longitudinal follow up (>7 years). We extracted DNA from Formalin-Fixed Paraffin-Embedded (FFPE) samples and examined chromosomal loci and frequencies of CNVs using Taqman copy number assays. CNV frequently occurred at 3p, 9p, and 13q loci in progressing dysplasia. Our results also indicate that CNV at multiple loci-in contrast to single locus occurrences-is characteristic of progressing dysplasia. This study suggests that genetic abnormalities of the true precancer demonstrate the progression risk which cannot be delineated by current histopathologic diagnosis.

  19. [Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications].

    Science.gov (United States)

    García-Peñas, Juan José; Domínguez-Carral, Jana; Pereira-Bezanilla, Elena

    2012-02-29

    The social, language, and behavioural problems that occur with autism suggest that this syndrome affects a functionally diverse and widely distributed set of neural systems. To review the molecular pathways involved in synaptic growth, development, and stability of human synapses. We also examine the genes implicated in synaptogenesis which have been associated with autism. In particular, we highlight the role of these genes in synaptic cell adhesion, organization of presynaptic and postsynaptic specializations, growth signaling pathways, and endosomal function. Proper brain function requires stringent balance of excitatory and inhibitory synapse formation during neural circuit assembly. Mutation of genes that normally sculpt and maintain this balance results in severe dysfunction, causing neurodevelopmental disorders including autism, epilepsy, Angelman syndrome, fragile X syndrome, and Rett syndrome. Such mutations may result in defective architectural structuring of synaptic connections, molecular assembly of synapses and/or functional synaptogenesis. Increased knowledge of abnormal mechanisms of human synaptogenesis may lead to define different etio-pathogenic models of autism and to understand how far abnormal cell/synaptic growth and synaptic function could be reversed.

  20. Hierarchical structure analysis describing abnormal base composition of genomes

    Science.gov (United States)

    Ouyang, Zhengqing; Liu, Jian-Kun; She, Zhen-Su

    2005-10-01

    Abnormal base compositional patterns of genomic DNA sequences are studied in the framework of a hierarchical structure (HS) model originally proposed for the study of fully developed turbulence [She and Lévêque, Phys. Rev. Lett. 72, 336 (1994)]. The HS similarity law is verified over scales between 103bp and 105bp , and the HS parameter β is proposed to describe the degree of heterogeneity in the base composition patterns. More than one hundred bacteria, archaea, virus, yeast, and human genome sequences have been analyzed and the results show that the HS analysis efficiently captures abnormal base composition patterns, and the parameter β is a characteristic measure of the genome. Detailed examination of the values of β reveals an intriguing link to the evolutionary events of genetic material transfer. Finally, a sequence complexity (S) measure is proposed to characterize gradual increase of organizational complexity of the genome during the evolution. The present study raises several interesting issues in the evolutionary history of genomes.

  1. [AML treatment strategy based on cytogenetic abnormalities and somatic mutations].

    Science.gov (United States)

    Imai, Yoichi

    2015-10-01

    In addition to morphological and histocytochemical analyses of acute myeloid leukemia (AML), data on cytogenetic abnormalities and somatic mutations are used for classification of AML. The risk stratification based on these examinations facilitates determining the treatment strategy for AML. Cytogenetic risk category definitions by the Southwest Oncology Group (SWOG), Cancer and Leukemia Group B (CALGB), and The Medical Research Council (MRC) classify AML patients into favorable, intermediate, and adverse groups. Approximately 80% of patients in the intermediate group have a normal karyotype and the importance of molecular genetic analyses in these patients is increasing. Somatic mutations of NPM1, CEBPA, and FLT3 are known to be related to the prognosis of AML patients. The European LeukemiaNet (ELN) introduced risk stratification for AML patients based on cytogenetic abnormalities and NPM1, CEBPA, and FLT3 mutations. This risk stratification can be used to select only chemotherapy or chemotherapy with allogeneic hematopoietic stem cell transplantation as consolidation therapy for individual AML patients. Development of molecular targeted therapies against FLT3 or IDH mutations is in progress and these novel therapies are expected to contribute to improving the prognosis of AML patients.

  2. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    DEFF Research Database (Denmark)

    Presman, Benjamin; Finnerup, Kenneth; Andresen, Sven Robert

    2015-01-01

    BACKGROUND: Persistent postsurgical pain is a well-recognized problem after a number of common surgical procedures, such as amputation, thoracotomy, and inguinal hernia repair. Less is known about persistent pain after cosmetic surgical procedures. We, therefore, decided to study the incidence...... and characteristics of persistent pain after abdominoplasty, which is one of the most frequent cosmetic surgical procedures. METHODS: In September 2014, a link to a web-based questionnaire was mailed to 217 patients who had undergone abdominoplasty between 2006 and 2014 at the Department of Plastic Surgery, Aalborg...... University Hospital, Denmark. The questionnaire included questions about pain and sensory abnormalities located to the abdominal skin, and physical and psychological function; patient satisfaction with surgery was rated on a 4-point scale. RESULTS: One hundred seventy patients answered the questionnaire...

  3. [Galen on the topic of abnormalities].

    Science.gov (United States)

    Bien, C G

    1999-01-01

    Galen on deformities--Galen's treatment of problems of deformities has its primary source in his twofold teleological conviction that nature acts purposefully and that the human organism and his parts serve their purposes in an optimal way. Thus he defines deformities as functionally deviant body parts. Operative therapy therefore is indicated only if an abnormal part of the body hinders its normal function. On the basis of scientific physiological concepts of his time Galen blames avoidable diatetic failures of the parents as causes of deformities. Galen's engagement on this point reveals the influence of his own experiences as a physician. Galen's statements on deformities show that his teleological concept of nature, his practical medical experience and scientific theories of his time enable him to draw fruitful theoretical and practical conclusions for matters of definition, indication for treatment and prophylaxis of deformities.

  4. Chlamydiae, cervicitis, and abnormal Papanicolaou smears.

    Science.gov (United States)

    Carr, M C; Hanna, L; Jawetz, E

    1979-01-01

    Cervical abnormalities accompanied by Papanicolaou Class II or Class III cytologic results are commonly encountered in gynecologic office practice. Chlamydiae are a common cause of genital tract infection, with or without manifest symptoms or signs. An immunofluorescence method was used to determine the presence of antichlamydial antibodies in cervical secretions. Eleven of 15 patients in whom such antibodies were found (73.3%) had Papanicolaou Class II or Class III smears, in contrast to only 3 of 18 patients (16.7%) without antichlamydial antibodies. The determination of antichlamydial antibodies in cervical mucus was highly reproducible, and specimens were readily collected in the office, without the need of prompt laboratory procedures. In selected patients, tetracycline treatment of early chlamydial infection resulted both in the disappearance of the antibody from cervical secretions and in the reversion of the Papanicolaou smear from Class II or Class III to Class I.

  5. Central nervous system abnormalities in vaginismus.

    Science.gov (United States)

    Frasson, Emma; Graziottin, Alessandra; Priori, Alberto; Dall'ora, Elisa; Didonè, Giuseppe; Garbin, Emilio Luigi; Vicentini, Silvana; Bertolasi, Laura

    2009-01-01

    To investigate possible altered CNS excitability in vaginismus. In 10 patients with primary idiopathic lifelong vaginismus, 10 with vulvar vestibulitis syndrome accompanied by vaginismus and healthy controls we recorded EMG activity from the levator ani (LA) and external anal sphincter (EAS) muscles and tested bulbocavernosus reflex (BCR). Pudendal-nerve somatosensory evoked potentials (SEPs) were tested after a single stimulus. Pudendal-nerve SEP recovery functions were assessed using a paired conditioning-test paradigm at interstimulus intervals (ISIs) of 5, 20 and 40ms. EMG in patients showed muscular hyperactivity at rest and reduced inhibition during straining. The BCR polysynaptic R2 had larger amplitude (pvaginismus. The neurophysiological abnormalities in patients with vaginismus indicate concomitant CNS changes in this disorder.

  6. Abnormal epidermal changes after argon laser treatment

    Energy Technology Data Exchange (ETDEWEB)

    Neumann, R.A.; Knobler, R.M.; Aberer, E.; Klein, W.; Kocsis, F.; Ott, E. (Univ. of Vienna (Austria))

    1991-02-01

    A 26-year-old woman with a congenital port-wine stain on the forehead was treated three times at 2-month intervals with an argon laser. Six months after the last treatment, moderate blanching and mild scaling confined to the treated area was observed. A biopsy specimen of the treated area revealed a significant decrease in ectatic vessels. However, epidermal changes similar to those of actinic keratosis with disorganized cell layers and marked cytologic abnormalities were seen. Analysis of peripheral blood lymphocytes for a defect in DNA repair was negative. Multiple, argon laser-induced photothermal effects may be responsible for the changes observed in our case and may lead to premalignant epidermal transformation.

  7. Do abnormal responses show utilitarian bias?

    Science.gov (United States)

    Kahane, Guy; Shackel, Nicholas

    2008-03-20

    Neuroscience has recently turned to the study of utilitarian and non-utilitarian moral judgement. Koenigs et al. examine the responses of normal subjects and those with ventromedial-prefrontal-cortex (VMPC) damage to moral scenarios drawn from functional magnetic resonance imaging studies by Greene et al., and claim that patients with VMPC damage have an abnormally "utilitarian" pattern of moral judgement. It is crucial to the claims of Koenigs et al. that the scenarios of Greene et al. pose a conflict between utilitarian consequence and duty: however, many of them do not meet this condition. Because of this methodological problem, it is too early to claim that VMPC patients have a utilitarian bias.

  8. Toward the detection of abnormal chest radiographs the way radiologists do it

    Science.gov (United States)

    Alzubaidi, Mohammad; Patel, Ameet; Panchanathan, Sethuraman; Black, John A., Jr.

    2011-03-01

    Computer Aided Detection (CADe) and Computer Aided Diagnosis (CADx) are relatively recent areas of research that attempt to employ feature extraction, pattern recognition, and machine learning algorithms to aid radiologists in detecting and diagnosing abnormalities in medical images. However, these computational methods are based on the assumption that there are distinct classes of abnormalities, and that each class has some distinguishing features that set it apart from other classes. However, abnormalities in chest radiographs tend to be very heterogeneous. The literature suggests that thoracic (chest) radiologists develop their ability to detect abnormalities by developing a sense of what is normal, so that anything that is abnormal attracts their attention. This paper discusses an approach to CADe that is based on a technique called anomaly detection (which aims to detect outliers in data sets) for the purpose of detecting atypical regions in chest radiographs. However, in order to apply anomaly detection to chest radiographs, it is necessary to develop a basis for extracting features from corresponding anatomical locations in different chest radiographs. This paper proposes a method for doing this, and describes how it can be used to support CADe.

  9. Pattern of epithelial cell abnormality in Pap smear: A clinicopathological and demographic correlation.

    Science.gov (United States)

    Banik, Urmila; Bhattacharjee, Pradip; Ahamad, Shahab Uddin; Rahman, Zillur

    2011-01-01

    In the low resource settings of a developing country, a conventional Papanicolaou (Pap) test is the mainstay screening system for cervical cancer. In order to counsel women and to organize a public health system for cervical cancer screening by Pap smear examination, it is imperative to know the pattern of premalignant and malignant lesions. This study was undertaken to find out the prevalence of an abnormal Pap smear, in a tertiary hospital of a developing country, and to carry out a clinicopathological and demographical analysis for establishing the pattern of epithelial cell abnormality in a Pap smear. A cross-sectional descriptive study was carried out in a total of 1699 patients who underwent Pap smear examination. The prevalence of epithelial cell abnormality in the Pap smear was calculated in proportions / percentages. Specimen adequacy and reporting was assessed according to the revised Bethesda system. Among the total of 1699 patients who had their Pap smear done, 139 (8.18%) revealed epithelial cell abnormality. Altogether 26 smears revealed high-grade lesions and malignancy, most of which were found to be in women belonging to the 30 - 39 and ≥ 45 age group. A total of 75 (53.96%) women were in the 20 - 44 age group and 64 (46.04%) were in the ≥ 45 age group. A bimodal age distribution was detected in the epithelial cell abnormality, with the bulk being diagnosed in patients aged 45 or above. Overall one-third of the patients with an abnormal Pap smear result showed healthy cervix in per vaginal examination. A raised prevalence of epithelial cell abnormality reflects the lack of awareness about cervical cancer screening. Women aged 45 or above harbor the bulk of premalignant and malignant lesions in the Pap smear, signifying that these women are among the under users of cytological screening.

  10. Prevalence, distribution, and progression of radiographic abnormalities in the lungs of cold-stunned Kemp's ridley sea turtles (Lepidochelys kempii): 89 cases (2002-2005).

    Science.gov (United States)

    Stockman, Jonathan; Innis, Charles J; Solano, Mauricio; O'Sullivan Brisson, Jennifer; Kass, Philip H; Tlusty, Michael F; Weber, E Scott

    2013-03-01

    To evaluate the prevalence, distribution, and progression of radiographic abnormalities in the lungs of cold-stunned Kemp's ridley sea turtles (Lepidochelys kempii) and associations between these abnormalities and body weight, carapace length, and hematologic and plasma biochemical variables. Retrospective case series. 89 cold-stunned juvenile Kemp's ridley sea turtles. Medical records were reviewed. Dorsoventral and horizontal beam craniocaudal radiographs were evaluated for the presence, distribution, and progression of lung abnormalities. Turtles were categorized as having radiographically normal or abnormal lungs; those with abnormalities detected were further categorized according to the distribution of abnormalities (left lung, right lung, or both affected). Body weight, carapace length, and hematologic and plasma biochemical data were compared among categories. 48 of 89 (54%) turtles had radiographic abnormalities of the lungs. Unilateral abnormalities of the right or left lung were detected in 14 (16%) and 2 (2%), respectively; both lungs were affected in 32 (36%). Prevalence of unilateral abnormalities was significantly greater for the right lung than for the left lung. Evaluation of follow-up radiographs indicated clinical improvement over time for most (18/31 [58%]) turtles. Prevalence of bilateral radiographic abnormalities was positively correlated with body weight and carapace length. There was no significant association between radiographic category and hematologic or plasma biochemical variables. Radiographic abnormalities of the lungs were commonly detected in cold-stunned Kemp's ridley turtles. Results of this study may aid clinicians in developing effective diagnostic and treatment plans for these patients.

  11. Amnesia and vegetative abnormalities after irradiation treatment. A case study

    Energy Technology Data Exchange (ETDEWEB)

    Christianson, S.Aa. (Departments of Psychology, University of Stockholm (Sweden)); Neppe, V. (Department of Psychology, University of Washington, Seattle (United States)); Hoffman, H. (Department of Psychology, Pacific Neuropsychiatric Institute, University of Washington, Settle (United States))

    1994-11-01

    This paper describes a case of a patient (GX) with a brain tumour in the third ventricle who developed a syndrome of amnestic disorder and vegetative abnormalities (hyperphagia, oligodipsia) after irradiation treatment that followed brain surgery. The patient shows an extremely poor long-term memory on both visually and verbally presented material, and of autobiographical events occurring after the onset of the illness, but some preserved memory functions on short-term memory tasks, semantic memory tasks, and implicit memory tasks. Given the onset of symptoms only after irradiation (a memory deficit in particular), and the non-invasive nature of the surgery, the probable etiology is post-irradiation syndrome. (au) (27 refs.).

  12. p53 Abnormalities and Potential Therapeutic Targeting in Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    P. J. Teoh

    2014-01-01

    Full Text Available p53 abnormalities are regarded as an independent prognostic marker in multiple myeloma. Patients harbouring this genetic anomaly are commonly resistant to standard therapy. Thus, various p53 reactivating agents have been developed in order to restore its tumour suppressive abilities. Small molecular compounds, especially, have gained popularity in its efficacy against myeloma cells. For instance, promising preclinical results have steered both nutlin-3 and PRIMA-1 into phase I/II clinical trials. This review summarizes different modes of p53 inactivation in myeloma and highlights the current p53-based therapies that are being utilized in the clinic. Finally, we discuss the potential and promise that the novel small molecules possess for clinical application in improving the treatment outcome of myeloma.

  13. Electrocardiogram Abnormalities and Coronary Calcification in Postmenopausal Women

    Directory of Open Access Journals (Sweden)

    Siamak Sabour

    2010-03-01

    Results: LVH was found in 2.7% (n = 15 of the women. The prevalence of T-axis abnormality was 6% (n = 34, whereas 8.5% (n = 48 had a QRS-T angle abnormality. CAC was found in 62% of the women. Compared to women with a normal T-axis, women with borderline or abnormal T-axes were 3.8 fold more likely to have CAC (95% CI: 1.4-10.2. Similarly, compared to women with a normal QRS-T angle, in women with borderline or abnormal QRS-T angle, CAC was 2.0 fold more likely to be present (95% CI: 1.0-4.1. Conclusion: Among women with ECG abnormalities reflecting subclinical ischemia, CAC is commonly found and may in part explain the increased coronary heart disease risk associated with these ECG abnormalities.

  14. Chromosomal Abnormalities in Offspring of Young Cancer Survivors

    DEFF Research Database (Denmark)

    Nielsen, Betina Frydenlund; Schmidt, Anne Aarslev; Mulvihill, John J

    2018-01-01

    Danish cancer survivors and 40 859 offspring (40 794 live-born children and 65 fetuses) of 19 536 siblings. Chromosomal abnormalities include numeric and structural abnormalities. Odds ratios were estimated by multiple logistic regression models comparing the risk of chromosomal abnormalities among...... compared with their siblings' offspring (odds ratio = 0.99, 95% confidence interval = 0.67 to 1.44, two-sided P = .94), with similar risk between male and female survivors. Cancer survivors were not more likely than their siblings to have children with a chromosomal abnormality.......To examine whether cancer survivors diagnosed before age 35 years are more likely to have offspring with chromosomal abnormalities than their siblings, chromosomal abnormalities were determined in a population-based cohort of 14 611 offspring (14 580 live-born children and 31 fetuses) of 8945...

  15. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

    Energy Technology Data Exchange (ETDEWEB)

    Tueysuez, Beyhan [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Gazioglu, Nurperi [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical School, Istanbul (Turkey); Uenguer, Savas [Istanbul University, Department of Pediatric Radiology, Cerrahpasa Medical School, Istanbul (Turkey); Aji, Dolly Yafet [Istanbul University, Department of Pediatrics, Cerrahpasa Medical School, Istanbul (Turkey); Tuerkmen, Seval [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Universitatsklinikum Berlin, Charite Virchow-Klinik, Berlin (Germany)

    2009-01-15

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. (orig.)

  16. Interpretation of Spirometry: Selection of Predicted Values and Defining Abnormality.

    Science.gov (United States)

    Chhabra, S K

    2015-01-01

    Spirometry is the most frequently performed investigation to evaluate pulmonary function. It provides clinically useful information on the mechanical properties of the lung and the thoracic cage and aids in taking management-related decisions in a wide spectrum of diseases and disorders. Few measurements in medicine are so dependent on factors related to equipment, operator and the patient. Good spirometry requires quality assured measurements and a systematic approach to interpretation. Standard guidelines on the technical aspects of equipment and their calibration as well as the test procedure have been developed and revised from time-to-time. Strict compliance with standardisation guidelines ensures quality control. Interpretation of spirometry data is based only on two basic measurements--the forced vital capacity (FVC) and the forced expiratory volume in 1 second (FEV1) and their ratio, FEV1/FVC. A meaningful and clinically useful interpretation of the measured data requires a systematic approach and consideration of several important issues. Central to interpretation is the understanding of the development and application of prediction equations. Selection of prediction equations that are appropriate for the ethnic origin of the patient is vital to avoid erroneous interpretation. Defining abnormal values is a debatable but critical aspect of spirometry. A statistically valid definition of the lower limits of normal has been advocated as the better method over the more commonly used approach of defining abnormality as a fixed percentage of the predicted value. Spirometry rarely provides a specific diagnosis. Examination of the flow-volume curve and the measured data provides information to define patterns of ventilatory impairment. Spirometry must be interpreted in conjunction with clinical information including results of other investigations.

  17. Abnormal position of lymph nodes in a freemartin sheep

    Directory of Open Access Journals (Sweden)

    Salazar PA

    2012-03-01

    Full Text Available Angela M Gonella-Diaza, Luz Zoraya Duarte, Sergio Dominguez, Pedro A SalazarClínica de Grandes Animales, Facultad de Medicina Veterinaria y de Zootecnia, Universidad Cooperativa de Colombia, Bucaramanga, Santander, ColombiaAbstract: In this freemartin case report the authors present the clinical and morphological findings of a freemartin ewe with an abnormal position of two lymph nodes. Freemartins, infertile females from mixed-sex twin pregnancies, are chimeras, having two cell populations: one of their own (XX DNA and one from their male twin (XY DNA. Freemartins can have varying degrees of phenotypic masculinization, including, in some cases, having active male gonads and exhibiting male behaviors such as heat detection and aggressiveness. During the clinical examination of the freemartin ewe, a morphological abnormality of the vulva, the presence of scrotal sacs, and a lack of mammary tissue development were noted. On inspection of the vaginal channel, an extremely enlarged clitoris, resembling a penis, was found. The clinical evidence suggested freemartinism. After the karyotyping diagnosis confirmation, a necropsy was performed and samples were taken for histology and immunohistochemistry. There were two structures found in the scrotal sacs; however, these were found to be lymph nodes, not testicles, and this was confirmed by CD3 lymph protein coloration. On histological study, the phallic structure showed corpus cavernosum and tunica albuginea. The testicles were found retained inside the abdominal cavity, with the presence of atrophic seminiferous tubules. Although the position of the testicles in freemartins has been reported as highly variable, this is the first time, to the best of the authors' knowledge, that a case has been reported where lymph nodes have been found inside the scrotal sacs. It is possible that these were the inguinal lymph nodes, trapped inside the scrotum during fetal growth and development.Keywords: freemartinism

  18. Treatments for Biomedical Abnormalities Associated with Autism Spectrum Disorder

    OpenAIRE

    Richard Eugene Frye; Daniel eRossignol

    2014-01-01

    Recent studies point to the effectiveness of novel treatments that address physiological abnormalities associated with autism spectrum disorder (ASD). This is significant because safe and effective treatments for ASD remain limited. These physiological abnormalities as well as studies addressing treatments of these abnormalities are reviewed in this article. Treatments commonly used to treat mitochondrial disease have been found to improve both core and associated ASD symptoms. Double-blind, ...

  19. Transient tone abnormalities in high risk infants and cognitive outcome at five years.

    Science.gov (United States)

    Chaudhari, Sudha; Bhalerao, Mangalmurti; Chitale, Anjali; Patil, Bharati; Pandit, Anand; Hoge, Mahendra

    2010-11-01

    to identify transient tone abnormalities and determine its prevalence in high risk infants and their cognitive outcome at 5 years. prospective cohort observational study. high risk infants discharged from a level II neonatal unit in a 12 month period, and followed upto 5 years. High risk infants and normal controls were assessed for abnormalities of tone using the method described by Amiel Tison at 3, 6, 9, 12 months. An IQ by Stanford Binet method and a preschool inventory by Ayres, Bobath was done at 5 years. Those infants who had normal tone at 6 and 12 months were called normal high risk (HR) group and those who had abnormalities at 6 months, which disappeared at 12 months, were called the transient tone abnormalities (TTA) group. out of 190 high risk infants, 113 were normal HR and 67 (35.2%) were labeled as TTA. Ten infants with cerebral palsy had abnormal tone throughout the first year. Controls had normal tone throughout the follow-up period. Although there was no difference in the IQ of the TTA group (98.5 ± 12.4) and the normal HR (99.1 ± 13.1) group, it was significantly less (P=0.04) than that of controls (106.1 ± 9.1). Preschool inventory in TTA children showed poor language development (P=0.014). many of the tone abnormalities detected at 6 months resolve by 12 months, hence a hasty diagnosis of cerebral palsy should not be made. High risk infants with transient tone abnormalities have a normal cognitive outcome at 5 years, except for poor language skills.

  20. [Neurocognitive and behavioural abnormalities in paediatric sleep-related breathing disorders].

    Science.gov (United States)

    Esteller Moré, Eduard; Barceló Mongil, Mercé; Segarra Isern, Francesc; Piñeiro Aguín, Zenaida; Pujol Olmo, Albert; Soler, Eusebi Matiñó; Ademà Alcover, Joan Manel

    2009-01-01

    Behavioural and neurocognitive abnormalities in children may be a consequence of sleep-related breathing disorders. The effectiveness of assessments based on questioning parents is dubious and objective assessment tools are therefore required. To ascertain the impact of these abnormalities in children with sleep-related breathing disorders and compare the reliability of questioning parents in relation to validated psychological tests. A prospective study was performed on 20 children with sleep-related breathing disorders and 20 healthy control children between 3 and 12 years of age. Both groups were subjected to a battery of validated psychological tests. The results of both groups were compared with each other and with the response to clinical questionnaires given to parents in the problem group. More than 75% of the cases in the problem group presented abnormalities with regard to attention, anxiety, memory and spatial structuring. The percentage involvement in all concepts was higher in the problem group. Comparisons of attention (40% of children affected in the control group and 80% in the problem group), memory (50% and 84.2%), and spatial structuring (45% and 75%) were statistically significant. More abnormality was observed in the parameters assessed with psychological tests than the equivalent concept obtained from interviewing the parents. Comparison of abnormal concentration assessed from the questionnaires (40% of children affected) with attention during the psychological test (80%), memory (15% and 84.21%), and delayed language development (10%) compared to spatial structuring (75%) was statistically significant. A high prevalence of behavioural and neurocognitive abnormalities was observed in children with sleep-related breathing disorders compared to a control group of healthy children. The use of objective assessment such as psychological tests revealed more abnormalities than were expressed by parents in response to clinical interviews.

  1. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.

    Science.gov (United States)

    Yin, Ai-hua; Peng, Chun-fang; Zhao, Xin; Caughey, Bennett A; Yang, Jie-xia; Liu, Jian; Huang, Wei-wei; Liu, Chang; Luo, Dong-hong; Liu, Hai-liang; Chen, Yang-yi; Wu, Jing; Hou, Rui; Zhang, Mindy; Ai, Michael; Zheng, Lianghong; Xue, Rachel Q; Mai, Ming-qin; Guo, Fang-fang; Qi, Yi-ming; Wang, Dong-mei; Krawczyk, Michal; Zhang, Daniel; Wang, Yu-nan; Huang, Quan-fei; Karin, Michael; Zhang, Kang

    2015-11-24

    Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed that increasing concentration of abnormal DNA and sequencing depth improved detection. Subsequently, we analyzed plasma from 1,456 pregnant women to develop a method for estimating fetal DNA concentration based on the size distribution of DNA fragments. Finally, we collected plasma from 1,476 pregnant women with fetal structural abnormalities detected on ultrasound who also underwent an invasive diagnostic procedure. We used SSP of maternal plasma DNA to detect subchromosomal abnormalities and validated our results with array comparative genomic hybridization (aCGH). With 3.5 million reads, SSP detected 56 of 78 (71.8%) subchromosomal abnormalities detected by aCGH. With increased sequencing depth up to 10 million reads and restriction of the size of abnormalities to more than 1 Mb, sensitivity improved to 69 of 73 (94.5%). Of 55 false-positive samples, 35 were caused by deletions/duplications present in maternal DNA, indicating the necessity of a validation test to exclude maternal karyotype abnormalities. This study shows that detection of fetal subchromosomal abnormalities is a viable extension of NIPT based on SSP. Although we focused on the application of cell-free DNA sequencing for NIPT, we believe that this method has broader applications for genetic diagnosis, such as analysis of circulating tumor DNA for detection of cancer.

  2. Age Specific Cytological Abnormalities in Women Screened for Cervical Cancer in the Emirate of Abu Dhabi.

    Science.gov (United States)

    Al Zaabi, Muna; Al Muqbali, Shaikha; Al Sayadi, Thekra; Al Ameeri, Suhaila; Coetsee, Karin; Balayah, Zuhur; Ortashi, Osman

    2015-01-01

    Cervical cancer is the second most common cancer in women worldwide, with about 500,000 new cases and 270,000 deaths each year. Globally, it is estimated that over one million women currently have cervical cancer, most of whom have not been diagnosed, or have no access to treatment that could cure them or prolong their lives. In the United Arab Emirates (UAE) cervical cancer is the third most common cancer in women. A population-based cross-sectional retrospective survey of cervical smear abnormalities was conducted in the Emirate of Abu Dhabi, UAE, from January 2013 to December 2013 by collecting consecutive liquid-based cytology samples from the Department of Pathology at the SKMC Hospital in Abu Dhabi city. The total number of women screened for cervical cancer for the year 2013 at SKMC was 4,593, with 225 (4.89%) abnormal smears. The majority of the abnormal smear results were atypical squamous cells of undetermined significance (ASCUS) 114 (2.48%). This study showed 60% increase in the rate of abnormal cervical smears in the UAE over the last 10 years. In this study the highest incidence of high grade abnormalities were seen in women above the age of 61 years (1.73%), this might be due to the fact that this group of women missed the chance of screening of cervical cancer earlier in their lives or could be explained by the well-known second peak of HPV infection seen in many prevalence studies. We conclude that the rate of abnormal cervical smear in the screened Abu Dhabi women is not different from the rate in developed countries. A notable increase in both low and high grade abnormalities has occurred within the last decade.

  3. Gait abnormalities following slipped capital femoral epiphysis.

    Science.gov (United States)

    Song, Kit M; Halliday, Suzanne; Reilly, Chris; Keezel, William

    2004-01-01

    The authors evaluated 30 subjects with treated unilateral slipped capital femoral epiphysis and a range of severity from mild to severe to characterize gait and strength abnormalities using instrumented three-dimensional gait analysis and isokinetic muscle testing. For slip angles less than 30 degrees, kinematic, kinetic, and strength variables were not significantly different from age- and weight-matched controls. For moderate to severe slips, as slip angle increased, passive hip flexion, hip abduction, and internal rotation in the flexed and extended positions decreased significantly. Persistent pelvic obliquity, medial lateral trunk sway, and trunk obliquity in stance increased, as did extension, adduction, and external rotation during gait. Gait velocity and step length decreased with increased amount of time spent in double limb stance. Hip abductor moment, hip extension moment, knee flexion moment, and ankle dorsiflexion moment were all decreased on the involved side. Hip and knee strength also decreased with increasing slip severity. All of these changes were present on the affected and to a lesser degree the unaffected side. Body center of mass translation or pelvic obliquity in mid-stance greater than one standard deviation above normal correlated well with the impression of compensated or uncompensated Trendelenburg gait.

  4. Mammillary body volume abnormalities in anorexia nervosa.

    Science.gov (United States)

    Khalsa, Sahib S; Kumar, Rajesh; Patel, Vandan; Strober, Michael; Feusner, Jamie D

    2016-10-01

    Several case reports of Wernicke's Encephalopathy in anorexia nervosa (AN) caused by thiamine deficiency have described mammillary body (MB) injury, but systematic studies are lacking. Here we evaluated whether underweight and weight-restored individuals with AN demonstrate evidence of abnormal MB morphology, via retrospective examination of a previously collected data set. Using standard-resolution T1-weighted magnetic resonance imaging at 3 Tesla, we measured MB volume and fornix area in a cross-sectional study of 12 underweight AN, 20 weight-restored AN, and 30 age- and sex-matched healthy comparisons. Because of the small size of these structures, a manual tracing approach was necessary to obtain accurate measurements. A blinded expert rater manually traced MB and fornix structures in each participant. We observed significantly smaller MB volumes in the underweight AN group. However, the weight-restored AN group exhibited significantly larger MB volumes. The right fornix was smaller in the weight-restored AN group only. These findings suggest the possibility that MB volume and fornix area could represent potential biomarkers of acute weight loss and restoration, respectively. Verification of this finding through prospective studies evaluating MB morphology, cognition, and thiamine levels longitudinally across individual illness trajectories might be warranted. © 2016 Wiley Periodicals, Inc. (Int J Eat Disord 2016; 49:920-929). © 2016 Wiley Periodicals, Inc.

  5. Salivary abnormalities in Prader-Willi Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hart, S.; Poshva, C. [Bowman Gray School of Medicine, Winston-Salem, NC (United States)

    1994-09-01

    Although abnormal saliva is a well documented finding in PWS, little is known about the saliva in these individuals. We have recently undertaken a study to characterize the salivary composition from PW patients and to see if there is any correlation with their underlying molecular diagnosis (deletion vs. disomy). We have collected whole saliva on 3 patients; 2 had normal high-resolution karyotype analysis (Cases 1 & 3) and 1 had a deletion of 15q11q13 (Case 3). For all parameters, Case 3`s values were notably different from those of his unaffected sibling. The salivary flow rates and concentrations for all 3 PW patients are similar and are significantly different from normal controls (mean {plus_minus} SE) (p<0.05). Although this data is from only 3 PW patients, it provides valuable information. First, decreased flow appears to be due to an effect of PWS and not medications since Cases 2 & 3 are not on any medications. Second, decreased flow appears to be present in younger as well as older individuals. Third, deviations from normal in the salivary composition are evident. It is possible that these alterations are concentration effects relative to a decrease in flow rate. We are currently obtaining saliva from more PW individuals to see if these alterations are present in all PW patients and whether they can be applied as a screening test.

  6. [Gastrointestinal abnormalities in children with autism].

    Science.gov (United States)

    Wasilewska, Jolanta; Jarocka-Cyrta, Elzbieta; Kaczmarski, Maciej

    2009-07-01

    The autistic spectrum disorder (ASD) is a neurodevelopmental disorder characterized by socially aloof behavior and impairment of language and social interaction. This paper is a review of literature on gastrointestinal problems in children with ASD. Gastrointestinal symptoms are described in 9-54% of autistic children, among which most common are: constipation, diarrhea and abdominal distension. The gastro-intestinal abnormalities reported in autism include: inflammation (esophagitis, gastritis, duodenitis, enterocolitis) with or without autoimmunity, lymphoid nodular hyperplasia, increased intestinal permeability, low activities of disaccharidase enzymes, impairment of detoxification (e.g. defective sulfation of ingested phenolic amines), dysbiosis with bacterial overgrowth, food intolerance or exorphin intoxication (by opioid derived from casein and gluten). A beneficial effect of dietary intervention on behavior and cognition of some autistic children indicates a functional relationship between the alimentary tract and the central nervous system. There are no epidemiologic data concerning the incidence or prevalence of gastrointestinal problems within the population of children with ASD in comparison to the population of non-ASD children.

  7. Abnormal parietal function in conversion paresis.

    Directory of Open Access Journals (Sweden)

    Marije van Beilen

    Full Text Available The etiology of medically unexplained symptoms such as conversion disorder is poorly understood. This is partly because the interpretation of neuroimaging results in conversion paresis has been complicated by the use of different control groups, tasks and statistical comparisons. The present study includes these different aspects in a single data set. In our study we included both normal controls and feigners to control for conversion paresis. We studied both movement execution and imagery, and we contrasted both within-group and between-group activation. Moreover, to reveal hemisphere-specific effects that have not been reported before, we performed these analyses using both flipped and unflipped data. This approach resulted in the identification of abnormal parietal activation which was specific for conversion paresis patients. Patients also showed reduced activity in the prefrontal cortex, supramarginal gyrus and precuneus, including hemisphere-specific activation that is lateralized in the same hemisphere, regardless of right- or left-sided paresis. We propose that these regions are candidates for an interface between psychological mechanisms and disturbed higher-order motor control. Our study presents an integrative neurophysiological view of the mechanisms that contribute to the etiology of this puzzling psychological disorder, which can be further investigated with other types of conversion symptoms.

  8. Chromagen lenses and abnormal colour perception

    Directory of Open Access Journals (Sweden)

    O. Matthew Oriowo

    2011-12-01

    Full Text Available Background: The Chromagen lens system comprises of tinted spectacle or contact lenses, each with a specific colour wavelength filter which controls the spectra of the light entering the eye. This study investigated whether spectacle-mounted Chromagen lenses would enhance colour perception in individuals with abnormal colour vision.Methods: The Ishihara colour test was used to test for colour vision deficiency (CVD and also to evaluate the effect of the Chromagen spectacle lens on colour perception in 13 subjects. An Oculus Anomaloscope was used to confirm and sub-classify the types of CVD. Subjects comprised of school age children from the Riyadh area in Saudi Arabia.Results: The distribution amongst the male participants comprised two subjects with protanomaly, two with protanopia, five with deuteranomaly, and two with deuteranopia. Amongst the two female participants, one subject showed deuteranomaly, and one showed protanomaly. Different types of Chromagen spectacle lenses displayed some levels of colour vision enhancement depending on type of CVD.Conclusion: The findings support the notion that chromagen lenses could enhance colour vision perception in some cases of red-green colour vision defects. Clients with CVD should be managed on an individual case basis. (S Afr Optom 2011 70(2 69-74 

  9. Pathophysiology of somatosensory abnormalities in Parkinson disease.

    Science.gov (United States)

    Conte, Antonella; Khan, Nashaba; Defazio, Giovanni; Rothwell, John C; Berardelli, Alfredo

    2013-12-01

    Changes in sensory function that have been described in patients with Parkinson disease (PD) can be either 'pure' disorders of conscious perception such as elevations in sensory threshold, or disorders of sensorimotor integration, in which the interaction between sensory input and motor output is altered. In this article, we review the extensive evidence for disrupted tactile, nociceptive, thermal and proprioceptive sensations in PD, as well as the influences exerted on these sensations by dopaminergic therapy and deep brain stimulation. We argue that abnormal spatial and temporal processing of sensory information produces incorrect signals for the preparation and execution of voluntary movement. Sensory deficits are likely to be a consequence of the dopaminergic denervation of the basal ganglia that is the hallmark of PD. A possible mechanism to account for somatosensory deficits is one in which disease-related dopaminergic denervation leads to a loss of response specificity, resulting in transmission of noisier and less-differentiated information to cortical regions. Changes in pain perception might have a different explanation, possibly involving disease-related effects outside the basal ganglia, including involvement of peripheral pain receptors, as well as structures such as the periaqueductal grey matter and non-dopaminergic neurotransmitter systems.

  10. Brain MRI abnormalities in neuromyelitis optica

    Energy Technology Data Exchange (ETDEWEB)

    Wang Fei, E-mail: feiwang1973@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Liu Yaou, E-mail: asiaeurope80@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Duan Yunyun, E-mail: duanyun2003@sohu.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Li Kuncheng, E-mail: kunchengli@yahoo.com.cn [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Education Ministry Key Laboratory for Neurodegenerative Disease, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China)

    2011-11-15

    Objective: The purpose of this study was to explore brain MRI findings in neuromyelitis optica (NMO) and to investigate specific brain lesions with respect to the localization of aquaporin-4 (AQP-4). Materials and methods: Forty admitted patients (36 women) who satisfied the 2006 criteria of Wingerchuk et al. for NMO were included in this study. All patients received a neurological examination and MRI scanning including brain and spinal cord. MRIs were classified as normal, nonspecific, multiple sclerosis-like, typical abnormalities. MS-like lesions were too few to satisfy the Barkhof et al. criteria for MS. Confluent lesions involving high AQP-4 regions were considered typical. Non-enhancing deep white matter lesions other than MS-like lesions or typical lesions were classified as nonspecific. Results: Brain MRI lesions were delineated in 12 patients (25%). Four patients (10%) had hypothalamus, brainstem or periventricle lesions. Six (15%) patients were nonspecific, and 2 (5%) patients had multiple sclerosis-like lesions. Conclusion: Brain MRIs are negative in most NMO, and brain lesions do not exclude the diagnosis of NMO. Hypothalamus, brainstem or periventricle lesions, corresponding to high sites of AQP-4 in the brain, are indicative of lesions of NMO.

  11. Abnormal reactions in ethylene hydrogenation process

    Energy Technology Data Exchange (ETDEWEB)

    Tokuhashi, Kazuaki; Urano, Yokichi; Iwasaka, Masaji; Horiguchi, Sadashige; Kondo, Shigeo; Hashiguchi, Yukio

    1987-11-19

    Ethylene hydrogenation under a commercial acethylene hydrogenation catalyst(palladium catalyst supported in cylindrical alumina) and polymerization and/or pyrolysis of ethylene in a higher temperature range were experimentally studied to get basic data and to prevent the abnormal reactions in chemical plants. The danger of ethylene hydrogenation was studied under conditions of hydrogen concentration of 1.5 to 28.6% in the hydrogen-ethylene gas mixture, constant flow rate, temperature of 63/sup 0/C and pressure of 25.5kg/cm/sup 2/. The catalyst had high activity to the ethylene hydrogenation and the temperature of catalyst was easily raised by the reaction heat of ethylene hydrogenation. Both hydrogenation and pyrolysis took place actively at 400/sup 0/C or higher temperature. The outlet temperature of catalyst layer increased with the increase of ethylene flow rate owing to the accumulation of the reaction heat, so that the possibility of runaway reaction became higher. (11 figs, 4 refs)

  12. Electroencephalographic abnormalities in antisocial personality disorder.

    Science.gov (United States)

    Calzada-Reyes, Ana; Alvarez-Amador, Alfredo; Galán-García, Lídice; Valdés-Sosa, Mitchell

    2012-01-01

    The presence of brain dysfunction in violent offenders has been frequently examined with inconsistent results. The aim of the study was to assess the EEG of 84 violent offenders by visual inspection and frequency-domain quantitative analysis in 84 violent prisoners. Low-resolution electromagnetic tomography (LORETA) was also employed for theta band of the EEG spectra. Antisocial personality disorder (ASPD) was present in 50 of the offenders and it was absent in the remaining 34. The prevalence of EEG abnormalities, by visual inspection, was similar for both the ASPD group (82%) and non-ASPD group (79%). The brain topography of these anomalies also did not differ between groups, in contrast to results of the EEG quantitative analysis (QEEG) and LORETA that showed remarkable regional differences between both groups. QEEG analysis showed a pattern of excess of theta-delta activities and decrease of alpha band on the right fronto-temporal and left temporo-parietal regions in the ASPD group. LORETA signified an increase of theta activity (5.08 Hz) in ASPD group relative to non-ASPD group within left temporal and parietal regions. Findings indicate that QEEG analysis and techniques of source localization may reveal differences in brain electrical activity among offenders with ASPD, which was not obvious to visual inspection. Copyright © 2011 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  13. Real-time Multiple Abnormality Detection in Video Data

    DEFF Research Database (Denmark)

    Have, Simon Hartmann; Ren, Huamin; Moeslund, Thomas B.

    2013-01-01

    Automatic abnormality detection in video sequences has recently gained an increasing attention within the research community. Although progress has been seen, there are still some limitations in current research. While most systems are designed at detecting specific abnormality, others which...... are capable of detecting more than two types of abnormalities rely on heavy computation. Therefore, we provide a framework for detecting abnormalities in video surveillance by using multiple features and cascade classifiers, yet achieve above real-time processing speed. Experimental results on two datasets...

  14. Maternal attitude towards first trimester screening for fetal abnormalities.

    Science.gov (United States)

    Maiz, Nerea; Burgos, Jorge; Barbazán, Maria José; Recio, Virginia; Martínez-Astorquiza, Txanton

    2016-05-01

    To explore the maternal attitude towards the screening for structural abnormalities at the 11-13-week scan, according to the severity of the abnormality. A secondary aim was to analyse which maternal characteristics influence in the maternal response. This is a descriptive study based on the responses to 300 self-administrated questionnaires completed immediately before routine ultrasounds scan. A totally of 296 (98.7%) women participated in the study. If the baby had any abnormality 93.9% would prefer to know at 12 weeks, 96.6% if the abnormality was lethal, 95.3% if the abnormality involves severe handicap, 91.2% if the abnormality can only be suspected, but not confirmed until the pregnancy is more advanced (16 or 20 weeks), 77.0% if the abnormality was minor and 79.4% women would like to know at 12 weeks if the baby appeared normal. Maternal age, gestational age at the time of the questionnaire and maternal attitude towards termination of pregnancy were the only factors affecting maternal responses. Pregnant women prefer to be informed in the first trimester about any abnormality in their fetuses, even in cases of minor or only suspected abnormalities. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  15. Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality

    Directory of Open Access Journals (Sweden)

    Ying XU

    2017-04-01

    Full Text Available Objective  To analysis the clinical high risk factors for fetal chromosomal abnormalities. Methods  Amniocentesis, chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women, who presented sole indication of prenatal diagnosis such as advanced age, high risk factors and fetal ultrasound abnormalities, for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities. Results  The detection rates of abnormal karyotype were 5.0% (57/1143, 1.7% (40/2367 and 4.3% (57/1319 in the older women group (age>35, abnormal maternal serological screening group and abnormal fetal ultrasound finding group, respectively. The detection rats of karyotype abnormality were 6.9% (23/333 in women with fetal congenital heart diseases, 8.5% (20/234 in those with abnormal amniotic fluid, 1.1% (1/89 in those with fetal ventriculomegaly, 1.1% (10/898 in those with fetal intracardiac hyperechogenicity, 5.9% (2/34 in those with fetal choroid cyst and 5.6% (1/18 in those with fetal renal pelvis broadening. Conclusion  The pregnant women with age>35, fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history. DOI: 10.11855/j.issn.0577-7402.2017.02.14

  16. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case......-diabetic women with little risk of contracting genetic disorders. The results suggest that maternal IDDM does not increase the risk of fetal chromosome abnormality and consequently screening by amniocentesis for chromosome abnormalities among diabetic women does not seem to be indicated....

  17. Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy

    Science.gov (United States)

    Goetzl, Laura

    2010-01-01

    Women with abnormal first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency >3.5mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities and other structural abnormalities. Abnormal first trimester analytes are also associated with adverse pregnancy outcomes but the predictive value is less impressive. As a single marker, PAPP-A screening with the possible addition of uterine artery PI assessment in the midtrimester. PMID:20638576

  18. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    Science.gov (United States)

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. A family affair: brain abnormalities in siblings of patients with schizophrenia

    Science.gov (United States)

    Hulshoff Pol, Hilleke; Gogtay, Nitin

    2013-01-01

    Schizophrenia is a severe mental disorder that has a strong genetic basis. Converging evidence suggests that schizophrenia is a progressive neurodevelopmental disorder, with earlier onset cases resulting in more profound brain abnormalities. Siblings of patients with schizophrenia provide an invaluable resource for differentiating between trait and state markers, thus highlighting possible endophenotypes for ongoing research. However, findings from sibling studies have not been systematically put together in a coherent story across the broader age span. We review here the cortical grey matter abnormalities in siblings of patients with schizophrenia from childhood to adulthood, by reviewing sibling studies from both childhood-onset schizophrenia, and the more common adult-onset schizophrenia. When reviewed together, studies suggest that siblings of patients with schizophrenia display significant brain abnormalities that highlight both similarities and differences between the adult and childhood populations, with shared developmental risk patterns, and segregating trajectories. Based on current research it appears that the cortical grey matter abnormalities in siblings are likely to be an age-dependent endophenotype, which normalize by the typical age of onset of schizophrenia unless there has been more genetic or symptom burdening. With increased genetic burdening (e.g. discordant twins of patients) the grey matter abnormalities in (twin) siblings are progressive in adulthood. This synthesis of the literature clarifies the importance of brain plasticity in the pathophysiology of the illness, indicating that probands may lack protective factors critical for healthy development. PMID:23698280

  20. Abnormal speech spectrum and increased pitch variability in young autistic children

    Directory of Open Access Journals (Sweden)

    Yoram S Bonneh

    2011-01-01

    Full Text Available Children with autism spectrum disorder (ASD who can speak often exhibit abnormal voice quality and speech prosody, but the exact nature and underlying mechanisms of these abnormalities, as well as their diagnostic power are currently unknown. Here we quantified speech abnormalities in terms of the properties of the long-term average spectrum (LTAS and pitch variability in speech samples of 83 children (41 with ASD, 42 controls ages 4-6.5 years, recorded while they named a sequence of daily-life pictures for 60 sec. We found a significant difference in the group’s average spectra, with ASD spectra being shallower and exhibiting less harmonic structure. Contrary to the common impression of monotonic speech in autism, the ASD children had a significantly larger pitch range and variability across time. A measure of this variability, optimally tuned for the sample, yielded 86% success (90% specificity, 80% sensitivity in classifying ASD in the sample. These results indicate that speech abnormalities in ASD are reflected in its spectral content and pitch variability. This variability could imply abnormal processing of auditory feedback or elevated noise and instability in the mechanisms that control pitch. The current results are a first step towards developing speech-spectrum-based bio-markers for early diagnosis of ASD.

  1. Incidence of abnormal offspring from cloning and other assisted reproductive technologies.

    Science.gov (United States)

    Hill, Jonathan R

    2014-02-01

    In animals produced by assisted reproductive technologies, two abnormal phenotypes have been characterized. Large offspring syndrome (LOS) occurs in offspring derived from in vitro cultured embryos, and the abnormal clone phenotype includes placental and fetal changes. LOS is readily apparent in ruminants, where a large calf or lamb derived from in vitro embryo production or cloning may weigh up to twice the expected body weight. The incidence of LOS varies widely between species. When similar embryo culture conditions are applied to nonruminant species, LOS either is not as dramatic or may even be unapparent. Coculture with serum and somatic cells was identified in the 1990s as a risk factor for abnormal development of ruminant pregnancies. Animals cloned from somatic cells may display a combination of fetal and placental abnormalities that are manifested at different stages of pregnancy and postnatally. In highly interventional technologies, such as nuclear transfer (cloning), the incidence of abnormal offspring continues to be a limiting factor to broader application of the technique. This review details the breadth of phenotypes found in nonviable pregnancies, together with the phenotypes of animals that survive the transition to extrauterine life. The focus is on animals produced using in vitro embryo culture and nuclear transfer in comparison to naturally occurring phenotypes.

  2. Women with abnormal Pap smear result: a qualitative study of Swedish healthcare professionals' experiences.

    Science.gov (United States)

    Rask, M; Oscarsson, M; Lindell, G; Swahnberg, K

    2016-11-01

    A Papanicolaou (Pap) smear can be used to detect pre-cancerous cellular changes, so that they can be treated before they develop into cervical cancer. When the results of a Pap smear test are abnormal, women need further investigation, treatment and follow-up. Healthcare professionals (HCPs) are in a position to care for these women with abnormalities. The aim of this study was to explore the experiences of HCPs in caring for women with abnormal Pap smear results. In total, 20 HCPs from two counties in south-eastern Sweden participated in individual interviews, based on two open-ended questions. Interviews were recorded, transcribed verbatim and analysed using content analysis. The results showed that HCPs experienced that abnormal Pap smear results created anxiety in women, who often sought information from the Internet as a way to cope. Furthermore, the HCPs thought that it was a problem that women chose not to attend investigation, treatment and follow-ups. However, information about the seriousness of abnormal Pap smear results causes women to participate. It is a challenge for HCPs to inform in a reassuring manner. Finally, HCPs should collaborate with women to meet their information needs and to also provide support regarding finding and filtering reliable information on the Internet. © 2015 John Wiley & Sons Ltd.

  3. First case of sterility associated with sex chromosomal abnormalities in a jenny.

    Science.gov (United States)

    Dorado, J; Anaya, G; Bugno-Poniewierska, M; Molina, A; Mendez-Sanchez, A; Ortiz, I; Moreno-Millán, M; Hidalgo, M; Peral García, P; Demyda-Peyrás, S

    2017-04-01

    Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses. A two-and-a-half-year-old jenny characterized by morphological abnormalities of the reproductive tract was cytogenetically analysed using conventional and fluorescent techniques and a group of microsatellite markers (short tandem repeat, STR). At the same time, five ultrasound measures of the reproductive tract were taken and compared with eight contemporary jennies of the same breed. After slaughter, morphological examinations showed that the case study had a blind vaginal vestibule defining an empty pouch that covered the entrance of the cervical os. Histopathological studies demonstrated that this abnormal structure was compatible with a remnant hymen. Molecular markers, STR and fluorescent in situ hybridization determinations revealed that the animal was a 62, XX/61,X mosaic and, therefore, the first case of chromosomal abnormalities in the sex pair reported in donkeys. © 2016 Blackwell Verlag GmbH.

  4. Micronuclei and other erythrocyte nuclear abnormalities in fishes from the Great Lakes Basin, USA

    Science.gov (United States)

    Braham, Ryan P.; Blazer, Vicki; Shaw, Cassidy H.; Mazik, Patricia M.

    2017-01-01

    Biological markers (biomarkers) sensitive to genotoxic and mutagenic contamination in fishes are widely used to identify exposure effects in aquatic environments. The micronucleus assay was incorporated into a suite of indicators to assess exposure to genotoxic and mutagenic contamination at five Great Lakes Areas of Concern (AOCs), as well as one non-AOC (reference) site. The assay allowed enumeration of micronuclei as well as other nuclear abnormalities for both site and species comparisons. Erythrocyte abnormality data was also compared to skin and liver tumor prevalence and hepatic transcript abundance. Erythrocyte abnormalities were observed at all sites with variable occurrence and severity among sites and species. Benthic-oriented brown bullhead (Ameiurus nebulosus) and white sucker (Catostomus commersonii) expressed lower rates of erythrocyte abnormalities, but higher rates of skin and liver neoplasms, when compared to pelagic-oriented largemouth bass (Micropterus salmoides) or smallmouth bass (Micropterus dolomieu) at the same site. The reduced erythrocyte abnormalities, increased transcript abundance associated with Phase I and II toxicant responsive pathways, and increased neoplastic lesions among benthic-oriented taxa may indicate the development of contaminant resistance of these species to more acute effects.

  5. CAFE: an R package for the detection of gross chromosomal abnormalities from gene expression microarray data.

    Science.gov (United States)

    Bollen, Sander; Leddin, Mathias; Andrade-Navarro, Miguel A; Mah, Nancy

    2014-05-15

    The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities. CAFE is available from https://bitbucket.org/cob87icW6z/cafe/ as both source and compiled packages for Linux and Windows. It is released under the GPL version 3 license. CAFE will also be freely available from Bioconductor. sander.h.bollen@gmail.com or nancy.mah@mdc-berlin.de Supplementary data are available at Bioinformatics online.

  6. Absent cavum septum pellucidum: a review with emphasis on associated commissural abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Sundarakumar, Dinesh K.; Farley, Sarah A.; Nixon, Jason N. [Seattle Children' s Hospital, Department of Radiology, Seattle, WA (United States); Smith, Crysela M. [The University of Texas Health Science Center at San Antonio, Department of Radiology, San Antonio, TX (United States); Maravilla, Kenneth R.; Dighe, Manjiri K. [University of Washington, Department of Radiology, Seattle, WA (United States)

    2015-07-15

    The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark, and its absence often signifies additional underlying malformations. Frequently detected by prenatal sonography, absence of the CSP requires further imaging with pre- or postnatal MRI to characterize the accompanying abnormalities. This article reviews the developmental anatomy of the CSP and the pivotal role of commissurization in normal development. An understanding of the patterns of commissural abnormalities associated with absence of the CSP can lead to improved characterization of the underlying spectrum of pathology. (orig.)

  7. Occurrence of abnormal starfish Astropecten indicus (Doderlein, 1888 (Echinodermata: Astroidea along Southeast coast of India

    Directory of Open Access Journals (Sweden)

    K. Prabhu

    2012-11-01

    Full Text Available Starfish Astropecten indicus was collected from bycatch landings at Mudasalodai fishing harbour, Tamil Nadu (India in November 2011. Totally 134 specimens collected among three specimens (2,2% have abnormally developed four and six arms. Normally, A. indicus has five arms and the deviation from pentamerism is a rare phenomenon in starfishes. The present observations suggest that deviations from pentamerism are not a heritable character but are a consequence of environmental perturbations on the metamorphosis of larvae and/or abnormal regeneration of arms.

  8. Occurrence of abnormal starfish Astropecten indicus (Doderlein, 1888 (Echinodermata: Astroidea along Southeast coast of India

    Directory of Open Access Journals (Sweden)

    PRABHU kOLANDHASAMY

    2012-08-01

    Starfish Astropecten indicus was collected from bycatch landings at Mudasalodai fishing harbour, Tamil Nadu (India in November 2011. Totally 134 specimens collected among three specimens (2,2% have abnormally developed four and six arms. Normally, A. indicus has five arms and the deviation from pentamerism is a rare phenomenon in starfishes. The present observations suggest that deviations from pentamerism are not a heritable character but are a consequence of environmental perturbations on the metamorphosis of larvae and/or abnormal regeneration of arms.

  9. POSTOPERATIVE ABNORMALITIES OF INTESTINE AND FACILITIES OF IT'S CORRECTION IN CHILDREN WITH ANORECTAL MALFORMATION

    Directory of Open Access Journals (Sweden)

    U.Sh. Karimov

    2007-01-01

    Full Text Available In abstract the authors represent the observation after 114 patients in age from 1 till 14 years passing the treatment last 15 years. All of them were been operated in cause of an rectal abnormality and suffering by dysfunction of terminal part of intestine and unsuccessful treatment of medics of different specification. Authors developed the principles of treatment accounting peculiarity and type of dysfunction, which noticeably improve the results of treatment.Key words: congenital abnormality of an rectal zone, motility disturbances of large intestine, children.

  10. Early White-Matter Abnormalities of the Ventral Frontostriatal Pathway in Fragile X Syndrome

    Science.gov (United States)

    Haas, Brian W.; Barnea-Goraly, Naama; Lightbody, Amy A.; Patnaik, Swetapadma S.; Hoeft, Fumiko; Hazlett, Heather; Piven, Joseph; Reiss, Allan L.

    2009-01-01

    Aim: Fragile X syndrome is associated with cognitive deficits in inhibitory control and with abnormal neuronal morphology and development. Method: In this study, we used a diffusion tensor imaging (DTI) tractography approach to reconstruct white-matter fibers in the ventral frontostriatal pathway in young males with fragile X syndrome (n = 17;…

  11. Progression of Amygdala Volumetric Abnormalities in Adolescents after Their First Manic Episode

    Science.gov (United States)

    Bitter, Samantha M.; Mills, Neil P.; Adler, Caleb M.; Strakowski, Stephen M.; DelBello, Melissa P.

    2011-01-01

    Objective: Although previous neuroimaging studies suggest that adolescents with bipolar disorder exhibit smaller amygdala volumes compared with healthy adolescents, whether these abnormalities are present at illness onset or instead develop over time remains unclear. The aim of this study was to conduct a prospective longitudinal investigation…

  12. High prevalence of diabetes and abnormal glucose tolerance in Thai women with previous gestational diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Sirisawat Wanthong

    2017-09-01

    Conclusions: Eighty-one percent of pGDM women developed AGT within 4 years after delivery. Risk factors for AGT were PG ≥ 150 mg/dl at 1 h after a 50 g-GCT and ≥3 abnormal PG values in a 100 g-OGTT.

  13. Abnormal voiding parameters in children with severe idiopathic constipation.

    Science.gov (United States)

    Chung, K L Y; Chao, N S Y; Liu, C S W; Tang, P M Y; Liu, K K W; Leung, M W Y

    2014-07-01

    It is suggested that idiopathic constipation may associate with abnormal voiding parameters. In this study, we investigate the voiding parameters in children with constipation. Since 2010, seventeen consecutive children (12 boys, 5 girls) aged 5-17 (median = 14) with significant constipation according to Rome III criteria and who were not responding to conventional treatment (diet, laxatives & bowel training) for over 6 months were recruited. The rectal diameter (RD) was measured by transpubic ultrasonography (USG), RD >3.5 cm was considered as dilated. Each patient had uroflow measurement and bladder USG done to measure the maximal flow rate (Vmax), voided volume (VV), and post-void residual urine (PVR). Abnormal voiding parameters were defined as Vmax 150% of age-adjusted expected bladder capacity (EBC) and/or PVR >20 ml. Rectal diameter ranged from 1.7 to 8.2 cm (median = 3 cm) and was abnormally dilated in eight children. Vmax was normal in all children (median = 23.7 ml/sec). Voided volume ranged from 30 to 289% of EBC and was abnormal in six children (35.5%). Post-void residual urine varied from 0 to 85 ml and was abnormal in six (35.5 %) children. Three children (17.6 %) had both abnormal VV and PVR. On the whole, the prevalence of abnormal voiding parameters in constipated children was 52.9 %. Mean RD in normal and abnormal parameters groups was 2.8 and 4.7 cm, respectively. Rectal dilation was associated with abnormal voiding parameters (p = 0.015). Abnormal voiding parameters including voided volume and post-void residual urine are prevalent in constipated children. Dilated rectum is associated with abnormal voiding parameters.

  14. Skeletal muscle abnormalities and genetic factors related to vertical talus.

    Science.gov (United States)

    Merrill, Laura J; Gurnett, Christina A; Connolly, Anne M; Pestronk, Alan; Dobbs, Matthew B

    2011-04-01

    Congenital vertical talus is a fixed dorsal dislocation of the talonavicular joint and fixed equinus contracture of the hindfoot, causing a rigid deformity recognizable at birth. The etiology and epidemiology of this condition are largely unknown, but some evidence suggests it relates to aberrations of skeletal muscle. Identifying the tissue abnormalities and genetic causes responsible for vertical talus has the potential to lead to improved treatment and preventive strategies. We therefore (1) determined whether skeletal muscle abnormalities are present in patients with vertical talus and (2) identified associated congenital anomalies and genetic abnormalities in these patients. We identified associated congenital anomalies and genetic abnormalities present in 61 patients affected with vertical talus. We obtained abductor hallucis muscle biopsy specimens from the affected limbs of 11 of the 61 patients and compared the histopathologic characteristics with those of age-matched control subjects. All muscle biopsy specimens (n = 11) had abnormalities compared with those from control subjects including combinations of abnormal variation in muscle fiber size (n = 7), type I muscle fiber smallness (n = 6), and abnormal fiber type predominance (n = 5). Isolated vertical talus occurred in 23 of the 61 patients (38%), whereas the remaining 38 patients had associated nervous system, musculoskeletal system, and/or genetic and genomic abnormalities. Ten of the 61 patients (16%) had vertical talus in one foot and clubfoot in the other. Chromosomal abnormalities, all complete or partial trisomies, were identified in three patients with vertical talus who had additional congenital abnormalities. Vertical talus is a heterogeneous birth defect resulting from many diverse etiologies. Abnormal skeletal muscle biopsies are common in patients with vertical talus although it is unclear whether this is primary or secondary to the joint deformity. Associated anomalies are present in 62

  15. Phenotypic abnormalities strongly reflect genotype in patients with unexplained cytopenias.

    Science.gov (United States)

    Cutler, Jevon A; Wells, Denise A; van de Loosdrecht, Arjan A; de Baca, Monica E; Kalnoski, Michael H; Zehentner, Barbara K; Eidenschink, Lisa; Ghirardelli, Keely M; Biggerstaff, Julie Sanford; Loken, Michael R

    2011-05-01

    In patients with unexplained cytopenias, abnormal karyotyping studies can be found with inconclusive light microscopic findings. Multidimensional flow cytometry (FCM) can identify myelomonocytic cells with aberrant phenotypes often not seen by standard morphology. In 431 patients presenting with unexplained cytopenia(s) FCM results were compared to abnormal karyotyping and FISH results recognized as associated with myelodysplastic syndrome (MDS) in the 2008 WHO classification, to assess the degree of and types of phenotypic abnormalities observed using a previously reported flow cytometric scoring system (FCSS). Fluorescence activated cell sorting was also used to identify subpopulations of abnormal maturing myelomonocytic cells that carry the genotypic abnormality. For marrows with complex (three or more karyotypic abnormalities), two abnormalities, isolated chromosome seven anomalies, del(5q) or del(13q), 100% of cases were positive when using a FCSS cutoff of ≥ 2. Trisomy 8, del(20 q), and minus Y had flow scores ≥ 2 in 72, 60, and 18%, respectively, but in some cases the flow score was high, indicating myeloid dysplasia. Most patients (16/22) with high myeloid progenitor cells (MyPC) (> 20%) also exhibited maturing myeloid cell abnormalities by FCM. Morphology was negative in the maturing myeloid cells in many cases with phenotypically abnormal myeloid cells. The high correlation between genotypic and phenotypic abnormalities suggests a possible increased utility of flow cytometry in the diagnosis of patients with unexplained cytopenias and may be useful in future clinical studies and in the classification by the WHO, using the FCSS rather than simple counting of flow cytometric abnormalities. Copyright © 2010 International Clinical Cytometry Society.

  16. Interaction Between Second-Phase Particle Dissolution and Abnormal Grain Growth in an Austenitic Stainless Steel

    Directory of Open Access Journals (Sweden)

    J.C. Dutra

    2002-09-01

    Full Text Available The continuing development of stainless steels has resulted in complex steel compositions with substantial amounts of alloying elements. The benefits of such additions invariably come attached to unavoidable disadvantages. One of the most critical item is the potential microstructural instability of the material. Alloying elements may be in a supersaturated solid solution, in which the precipitation of carbides, nitrides, borides and intermetallic phases occurs in a wide range of temperatures. In order to dissolve the mentioned precipitates, solution annealing is commonly performed. However, at the temperature range in which this treatment is carried out, the onset of abnormal grain growth can occur. The interaction between the dissolution of these second-phase particles and the occurrence of abnormal grain growth is investigated in this work. This study also shows that the thermodynamics and the kinetics of dissolution of precipitates may be used to predict whether abnormal grain growth takes place.

  17. Abnormal Grief: Should We Consider a More Patient-Centered Approach?

    Science.gov (United States)

    Moayedoddin, Babak; Markowitz, John C

    2015-01-01

    Grief, the psychological reaction to the loss of a significant other, varies complexly in its cause, experience, evolution, and prognosis. Although most bereaved individuals experience a normal grieving process, some develop complicated grief (CG) or major depressive disorder (MDD). The DSM-5, which controversially altered the nosology, recognizes grief-related major depression (GRMD) as a diagnostic subtype if a patient meets MDD criteria two weeks post bereavement. The (DSM-5) tries to distinguish between grief and MDD, but remains a symptom-based, centered approach to grief that is not patient centered. This article reviews grief in its normal and abnormal dimensions. Using an illustrative clinical case in which interpersonal psychotherapy (IPT) was employed, we discuss the need for a more patient-centered approach to treating abnormal grief, considering the patient's personal history, perceptions, experiences of bereavement, and interpersonal environment. Clinical studies need to better identify subgroups of individuals susceptible to abnormal grief and to evaluate their response to early interventions.

  18. ADEPT - Abnormal Doppler Enteral Prescription Trial

    Directory of Open Access Journals (Sweden)

    McCormick Kenny

    2009-10-01

    Full Text Available Abstract Background Pregnancies complicated by abnormal umbilical artery Doppler blood flow patterns often result in the baby being born both preterm and growth-restricted. These babies are at high risk of milk intolerance and necrotising enterocolitis, as well as post-natal growth failure, and there is no clinical consensus about how best to feed them. Policies of both early milk feeding and late milk feeding are widely used. This randomised controlled trial aims to determine whether a policy of early initiation of milk feeds is beneficial compared with late initiation. Optimising neonatal feeding for this group of babies may have long-term health implications and if either of these policies is shown to be beneficial it can be immediately adopted into clinical practice. Methods and Design Babies with gestational age below 35 weeks, and with birth weight below 10th centile for gestational age, will be randomly allocated to an "early" or "late" enteral feeding regimen, commencing milk feeds on day 2 and day 6 after birth, respectively. Feeds will be gradually increased over 9-13 days (depending on gestational age using a schedule derived from those used in hospitals in the Eastern and South Western Regions of England, based on surveys of feeding practice. Primary outcome measures are time to establish full enteral feeding and necrotising enterocolitis; secondary outcomes include sepsis and growth. The target sample size is 400 babies. This sample size is large enough to detect a clinically meaningful difference of 3 days in time to establish full enteral feeds between the two feeding policies, with 90% power and a 5% 2-sided significance level. Initial recruitment period was 24 months, subsequently extended to 38 months. Discussion There is limited evidence from randomised controlled trials on which to base decisions regarding feeding policy in high risk preterm infants. This multicentre trial will help to guide clinical practice and may also

  19. Surrogate Motherhood and Abortion for Fetal Abnormality.

    Science.gov (United States)

    Walker, Ruth; van Zyl, Liezl

    2015-10-01

    A diagnosis of fetal abnormality presents parents with a difficult - even tragic - moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide - the pregnant woman - does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate's right to decide whether to undergo an abortion, and the intended parents' obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making. © 2015 John Wiley & Sons Ltd.

  20. Colposcopic management of abnormal cervical cytology and histology.

    Science.gov (United States)

    Bentley, James

    2012-12-01

    To provide a guideline for managing abnormal cytology results after screening for cervical cancer, to clarify the appropriate algorithms for follow-up after treatment, and to promote the best possible care for women while ensuring efficient use of available resources. Women with abnormal cytology are at risk of developing cervical cancer; appropriate triage and treatment will reduce this risk. This guideline will facilitate implementation of common standards across Canada, moving away from the current trend of individual guidelines in each province and territory. Published literature was retrieved through searches of PubMed or Medline, CINAHL, and The Cochrane Library in October 2008 using appropriate controlled vocabulary (e.g., colposcopy, cervical dysplasia) and key words (e.g., colposcopy management, CIN, AGC, cervical dysplasia, LEEP, LLETZ, HPV testing, cervical dysplasia triage). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to July 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. Expert opinion from published peer-reviewed literature and evidence from clinical trials is summarized. Consensus opinion is outlined when evidence is insufficient. The quality of the evidence is rated using the criteria described by the Canadian Task Force on Preventive Health Care (Table 1). This guideline has been reviewed for accuracy from content experts in cytology, pathology, and cervical screening programs. Guideline content was also compared with similar documents from other organizations including the American Society for Colposcopy and Cervical Pathology, the

  1. Hematologic abnormalities associated with retroviral infections in the cat.

    Science.gov (United States)

    Shelton, G H; Linenberger, M L

    1995-11-01

    Feline patients with unexplained peripheral blood cytopenias, circulating immature or neoplastic cells, dysplastic or dysmorphic bone marrow abnormalities, and/or lymphoid tumors are likely suffering from an underlying retroviral infection with feline leukemia virus (FeLV) and/or feline immunodeficiency virus (FIV). Cytopenic hematologic disorders are often caused by the direct or indirect hematosuppressive effects of these retroviruses. Alternatively, secondary infections, nutritional deficiencies, and/or hematopoietic neoplasms may be important cofactors in the development of blood and bone marrow abnormalities in retrovirus-positive patients. Mild to moderate nonregenerative anemia, with or without concurrent granulocytopenia and/or thrombocytopenia, is one of the most frequent hematologic disorders encountered with either infectious agent. Severe, isolated anemia with absent reticulocytes (pure red blood cell aplasia) specifically suggests infection with FeLV subgroup C. Hemolytic (regenerative) anemia, more commonly associated with FeLV infection, may be caused by an autoimmune process and/or coinfection with Haemobartonella felis. Lymphopenia is a hallmark of chronic, symptomatic FIV infection. Neutropenia may accompany a panleukopenia-like syndrome in FeLV-positive cats or it may be associated with acute primary infection or an adverse drug effect in the FIV-infected patient. FeLV and, to a lesser extent, FIV are both causally related to lymphoid neoplasms in domestic cats, but with dissimilar epidemiologic, clinical, and host cell phenotypic features. Clinicians must be cognizant of the wide spectrum of hematologic manifestations of FeLV and FIV infections to recognize and appropriately manage these complications in their feline patients.

  2. Balancing uncertainty and acceptance: understanding Chinese women's responses to an abnormal cervical smear result.

    Science.gov (United States)

    Twinn, Sheila

    2006-09-01

    for nursing practice, in particular developing information-giving strategies and targeted information to help women manage feelings of uncertainty. The importance of trusting professional relationships in determining women's acceptance of an abnormal result is also highlighted. The findings suggest nurses working with Chinese women should consider the underlying influence of culture on women's beliefs and actions.

  3. Clinical approach to a patient with abnormal uterine bleeding ...

    African Journals Online (AJOL)

    Abnormal excessive uterine bleeding forms a large proportion of gynaecological complaints. Of postpubertal girls who experience excessive menstrual loss, about one quarter will never regain a normal cycle and flow. As she grows older many other factors may arise causing menstrual abnormalities. South African Family ...

  4. 21 CFR 864.7415 - Abnormal hemoglobin assay.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Abnormal hemoglobin assay. 864.7415 Section 864... hemoglobin assay. (a) Identification. An abnormal hemoglobin assay is a device consisting of the reagents... hemoglobin types. (b) Classification. Class II (performance standards). [45 FR 60618, Sept. 12, 1980] ...

  5. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non...

  6. [Influence of nonindustrial risk factors on congenital abnormalities formation].

    Science.gov (United States)

    Talykova, L V

    2009-01-01

    Congenital abnormalities could result from exposure to occupational hazards. Epidemiologic study of nickel compounds influence on reproductive health in females engaged into nickel purification in Murmansk region enterprises did not reveal increased risk of the anomalies. The study was aimed to define influence of various risk factors connected not to work conditions, but to mother's health, bad habits, age, on congenital abnormalities in newborns.

  7. The intelligent estimating of spinal column abnormalities by using ...

    African Journals Online (AJOL)

    Spinal column abnormities such as kyphosis and lordosis are the most common deformity that normally compare to the standard norms. To classify the subjects into the healthy and abnormal groups based on the angle values of the standard norms, the aim of this study was to use the artificial neural network method as a ...

  8. Prevalence of hematological abnormalities and malnutrition in HIV ...

    African Journals Online (AJOL)

    Background: Hematological abnormalities such as anemia, neutropenia, and thrombocytopenia occur in children infected by the human immunodeficiency virus (HIV). These abnormalities are due to myelosuppression caused by the HIV and contribute to the morbidity and mortality of HIV.infected children. Malnutrition is ...

  9. The prevalence and risk factors of abnormal glucose tolerance ...

    African Journals Online (AJOL)

    BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrinopathy amongst women in the reproductive age worldwide. Abnormal glucose tolerance (AGT) is common amongst women with PCOS. The prevalence of abnormal glucose tolerance amongst Nigerian women with PCOS has not been investigated.

  10. Phenotype abnormality: 71 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 71 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u577i abnormal for trait of morphology... in organ named trichome during process named growth ... trichome ... abnormal ... growth ... morphology

  11. The Incidence of Electrolytes and Acid-Base Abnormalities in ...

    African Journals Online (AJOL)

    Diabetic patients with prolonged insulin insufficiency can present in the emergency department with life threatening ketoacidosis,el ectrolyte abnormalities,an d morbid arrhythmias. A quick and accurate determination of the metabolic abnormalities with rapid intervention is paramount in their management. The aim of this ...

  12. Phenotype abnormality: 65 [Arabidopsis Phenome Database[Archive

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    Full Text Available 65 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u571i abnormal for tra...it of morphology in organ named root primordium ... root primordium ... abnormal ... morphology

  13. Phenotype abnormality: 51 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 51 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u557i abnormal for tra...it of catalytic activity in organ named portion of meristem tissue ... portion of meristem tissue ... abnormal ... catalytic activity

  14. Structural Echocardiographic Abnormalities Seen in HIV/AIDS ...

    African Journals Online (AJOL)

    2017-06-28

    Jun 28, 2017 ... All the individuals had clinical examination, electrocardiography. (ECG) and echocardiography (echo) done. Results: ECG abnormalities were seen in 55.3% of the HIV‑positive patients compared with 2.7% of controls (P <. 0.001). The overall prevalence of echo abnormalities among the patients was 54%,.

  15. Structural echocardiographic abnormalities seen in HIV/AIDS ...

    African Journals Online (AJOL)

    All the individuals had clinical examination, electrocardiography (ECG) and echocardiography (echo) done. Results: ECG abnormalities were seen in 55.3% of the HIV-positive patients compared with 2.7% of controls (P < 0.001). The overall prevalence of echo abnormalities among the patients was 54%, against 15.3% (P ...

  16. Pregnancy outcome in asymptomatic women with abnormal vaginal ...

    African Journals Online (AJOL)

    The presence of abnormal vaginal flora was correlated with pregnancy outcomes in terms of preterm delivery or late miscarriage, premature rupture of the membranes (PROM) and puerperal sepsis. Results. A total of 242 patients with abnormal vaginal flora for whom outcome data were complete were analysed. Intervention ...

  17. risk factors for abnormal tubal hysterosalpingographic findings in ...

    African Journals Online (AJOL)

    Administrator

    12,13,14 therapeutic also. The goal of this study is to check the tubal abnormalities of women with infertility as seen on. HSG in Jos and correlate it with some com .... abortions. Structural abnormalities of female reproductive system follow exposure to some of these risk factors. Women who had prior multiple sexual partners,.

  18. QUALITATIVE ABNORMAL FETAL BREATHING MOVEMENTS, ASSOCIATED WITH TRACHEAL ATRESIA

    NARCIS (Netherlands)

    BAARSMA, R; BEKEDAM, DJ; VISSER, GHA

    A case is reported in which qualitatively, grossly abnormal fetal breathing movements turned out to be indicative of complete tracheal atresia. Fetal breathing movements were vigorous and jerky and of large amplitude; similarly abnormal movements were observed after birth. At postmortem tracheal

  19. Freud Was Right. . . about the Origins of Abnormal Behavior

    Science.gov (United States)

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  20. Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

    NARCIS (Netherlands)

    J.W. Wladimiroff (Juriy); W.R. Bhaggoe (W.); M.J.E. Kristelijn (M. J E); T.E. Cohen-Overbeek (Titia); N.S. den Hollander (Nicolette); H. Brandenburg (Helen); F.J. Los

    1995-01-01

    textabstractStructural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy.

  1. Eclampsia and abnormal QTc | Isezuo | West African Journal of ...

    African Journals Online (AJOL)

    Background: Abnormalities of calcium and magnesium metabolism are known risk factors for QT interval prolongation and have been reported in eclampsia. Objective: To determine if eclampsia is associated with QT abnormalities. Methods: In a prospective study, the QT interval corrected for heart rate (QTc), serum calcium, ...

  2. Phenotype abnormality: 46 [Arabidopsis Phenome Database[Archive

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    Full Text Available 46 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u552i abnormal for trait of behavior.../cria224u2ria224u38i stomatal complex ... abnormal ... response to light stimulus ... behavioral quality

  3. Phenotype abnormality: 43 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 43 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u549i abnormal for trait of behavior...al quality in organ named root during process named growth ... root ... abnormal ... growth ... behavioral quality

  4. Phenotype abnormality: 47 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 47 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u553i abnormal for trait of behavior...al quality in organ named thylakoid membrane during process named thylakoid membrane organization ... abnormal ... behavioral quality

  5. Phenotype abnormality: 34 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 34 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u540i abnormal for trait of behavior...al quality during process named response to cytokinin stimulus ... abnormal ... behavioral quality

  6. Phenotype abnormality: 42 [Arabidopsis Phenome Database[Archive

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    Full Text Available 42 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u548i abnormal for trait of behavior...al quality in organ named root during process named gravitropism ... root ... abnormal ... behavioral quality

  7. Phenotype abnormality: 40 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 40 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u546i abnormal for trait of behavior...al quality in organ named hypocotyl during process named gravitropism ... hypocotyl ... abnormal ... behavioral quality

  8. Phenotype abnormality: 50 [Arabidopsis Phenome Database[Archive

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    Full Text Available 50 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u556i abnormal for trait of behavior...al quality in organ named whole plant during process named photomorphogenesis ... whole plant ... abnormal ... behavioral quality

  9. Phenotype abnormality: 31 [Arabidopsis Phenome Database[Archive

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    Full Text Available 31 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u537i abnormal for trait of behavior...al quality during process named localization of cell ... abnormal ... behavioral quality

  10. Phenotype abnormality: 33 [Arabidopsis Phenome Database[Archive

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    Full Text Available 33 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u539i abnormal for trait of behavior...al quality during process named response to auxin stimulus ... abnormal ... behavioral quality

  11. Phenotype abnormality: 35 [Arabidopsis Phenome Database[Archive

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    Full Text Available 35 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u541i abnormal for trait of behavior...al quality during process named response to gravity ... abnormal ... behavioral quality

  12. Phenotype abnormality: 49 [Arabidopsis Phenome Database[Archive

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    Full Text Available 49 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u555i abnormal for trait of behavior...al quality in organ named whole plant during process named cell growth ... whole plant ... abnormal ... cell growth ... behavioral quality

  13. Evaluation of clinical characteristics of Kawasaki syndrome and risk factors for coronary artery abnormalities among children in Denmark.

    Science.gov (United States)

    Patel, Amy; Holman, Robert C; Callinan, Laura S; Sreenivasan, Nandini; Schonberger, Lawrence B; Fischer, Thea K; Belay, Ermias D

    2013-04-01

    To examine clinical characteristics, treatment and outcome of Kawasaki syndrome patients in Denmark. A retrospective chart review of hospitalization records for children Kawasaki syndrome discharge diagnosis identified through the Danish National Patient Registry during 1994 through June 2008 was conducted. A total of 284 cases Kawasaki syndrome (n = 279) and atypical Kawasaki syndrome (n = 5); 70.4% were Kawasaki syndrome patients were diagnosed with coronary artery abnormalities. Not receiving intravenous immunoglobulin treatment before the 10th day of illness, young age and male sex were significantly associated with the development of coronary artery abnormalities. In Denmark, more than one in 10 children with Kawasaki syndrome develop coronary artery abnormalities. Physicians should increase their index of suspicion for early diagnosis and treatment of Kawasaki syndrome among patients susceptible to increased risk of coronary artery abnormalities, particularly in infants who may have a more atypical presentation of the illness. ©2012 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.

  14. Chromosomal Abnormalities Associated with Neural Tube Defects (I: Full Aneuploidy

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-12-01

    Full Text Available Fetuses with neural tube defects (NTDs carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploidy, trisomy 9, trisomy 2, trisomy 21, trisomy 7, trisomy 8, trisomy 14, trisomy 15, trisomy 16, trisomy 5 mosaicism, trisomy 11 mosaicism, trisomy 20 mosaicism, monosomy X, and tetraploidy. NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

  15. Roentgenologic abnormalities in Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Takehiko; Russell, W.J.; Komatsuda, Michio; Neriishi, Shotaro

    1968-07-25

    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  16. Abnormal respiratory drive in vibroacoustic disease

    Directory of Open Access Journals (Sweden)

    José Reis Ferreira

    2006-07-01

    Full Text Available Introduction: Central nervous system disorders in workers exposed to low frequency noise (LFN, 60%. Discussion: In the involuntary response to increased PCO2 levels, central chemoreceptors are responsible for 70% of the ventilatory stimulus. In VAD patients, this dysfunction may originate in the brainstem. This is corroborated by the fact that VAD patients register abnormal values for auditory brainstem evoked potentials, and disclose lesions with magnetic resonance imaging. The neurological control of breathing is compromised in VAD patients. The P0.1(CO2 index may be a useful clinical indicator for VAD diagnosis and follow-up. Resumo: Enquadramento: As alterações do sistema nervoso central em trabalhadores expostos a ruído de baixa frequência (RBF, 60%. Conclusões: Na resposta reflexa ao acréscimo de PCO2, os quimio-receptores centrais são responsáveis por 70% do estímulo ventilatório. Um estímulo ventilatório diminuído pode traduzir certa disfunção do tronco cerebral. Em doentes com VAD, esta disfunção é corroborada por anomalias dos potenciais evocados auditivos do tronco cerebral, bem como por alterações detectáveis em ressonância magnética. O índice P0.1CO2 pode revelar-se um indicador clínico útil para o diagnóstico e seguimento da VAD. Em resumo, o controlo neurológico da respiração está comprometido em doentes com VAD. Key-words: Low frequency noise, infrasound, respiratory control, P0.1CO2, peak respiratory pressure, Palavras-chave: Ruído de baixa frequência, infra-sons, controlo da respiração, P0.1CO2, pressões respiratórias máximas

  17. Upper airway alterations/abnormalities in a case series of obstructive sleep apnea patients identified with cone-beam CT

    Energy Technology Data Exchange (ETDEWEB)

    Shigeta, Y.; Shintaku, W.H.; Clark, G.T. [Orofacial Pain/Oral Medicine Center, Div. of Diagnostic Sciences, School of Dentistry, Univ. of Southern California, Los Angeles, CA (United States); Enciso, R. [Div. of Craniofacial Sciences and Therapeutics, School of Dentistry, Univ. of Southern California, Los Angeles, CA (United States); Ogawa, T. [Dept. of Fixed Prosthodontic Dentistry, Tsurumi Univ., School of Dental Medicine, Tsurumi (Japan)

    2007-06-15

    There are many factors that influence the configuration of the upper airway and may contribute to the development of obstructive sleep apnea (OSA). This paper presents a series of 12 consecutive OSA cases where various upper airway alteration/abnormalities were identified using 3D anatomic reconstructions generated from cone-beam CT (CBCT) images. Some cases exhibited more than one type of abnormality and below we describe each of the six types identified with CBCT in this case series. (orig.)

  18. Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia.

    Science.gov (United States)

    Dewald, G W; Pierre, R V; Phyliky, R L

    1982-01-01

    Structural abnormalities of the X chromosome are rarely found in neoplastic disorders. We describe three patients with a history of idiopathic acquired sideroblastic anemia (IASA); each one had an abnormal clone of cells in the bone marrow, characterized by a structurally abnormal X chromosome. In two of these patients, the predominant karyotype was 47,X,2idic(X)(q13); in the other patient, it was 46,X,t(X;11)(q13;p15). Inasmuch as all three of these cases involved chromosome band Xq13, as did two previously published cases, we suggest that band Xq13 may be more prone to structural rearrangement than other X chromosome bands in hematologic disorders. The common Xq13 chromosome breakpoint and clinical presentation (IASA) among these three patients and the occurrence of an X-linked type of sideroblastic anemia may suggest that an association exists between X chromosome abnormalities and IASA. Perhaps alteration of a gene or chromosome structure in or near band Xq13 predisposes to development of IASA. The fact that two of these patients had preleukemia and the third had overt acute leukemia may imply that patients with IASA and X chromosome abnormalities have a poor prognosis. Cases of IASA without associated X chromosome abnormalities are known; thus, if an association between IASA and an abnormal X chromosome does exist, most likely it involves only some patients with IASA.

  19. Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm.

    Directory of Open Access Journals (Sweden)

    Sahar Houshdaran

    2007-12-01

    Full Text Available Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis.We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm.This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line.

  20. Using Natural Language Processing to Extract Abnormal Results From Cancer Screening Reports.

    Science.gov (United States)

    Moore, Carlton R; Farrag, Ashraf; Ashkin, Evan

    2017-09-01

    Numerous studies show that follow-up of abnormal cancer screening results, such as mammography and Papanicolaou (Pap) smears, is frequently not performed in a timely manner. A contributing factor is that abnormal results may go unrecognized because they are buried in free-text documents in electronic medical records (EMRs), and, as a result, patients are lost to follow-up. By identifying abnormal results from free-text reports in EMRs and generating alerts to clinicians, natural language processing (NLP) technology has the potential for improving patient care. The goal of the current study was to evaluate the performance of NLP software for extracting abnormal results from free-text mammography and Pap smear reports stored in an EMR. A sample of 421 and 500 free-text mammography and Pap reports, respectively, were manually reviewed by a physician, and the results were categorized for each report. We tested the performance of NLP to extract results from the reports. The 2 assessments (criterion standard versus NLP) were compared to determine the precision, recall, and accuracy of NLP. When NLP was compared with manual review for mammography reports, the results were as follows: precision, 98% (96%-99%); recall, 100% (98%-100%); and accuracy, 98% (96%-99%). For Pap smear reports, the precision, recall, and accuracy of NLP were all 100%. Our study developed NLP models that accurately extract abnormal results from mammography and Pap smear reports. Plans include using NLP technology to generate real-time alerts and reminders for providers to facilitate timely follow-up of abnormal results.

  1. Proximal patellar tendinosis and abnormalities of patellar tracking

    Energy Technology Data Exchange (ETDEWEB)

    Allen, G.M. [Royal Hospital Haslar, Gosport (United Kingdom); Tauro, P.G. [Northern Hospital,Victoria (Australia); Ostlere, S.J. [Nuffield Orthopaedic Hospital, Oxford (United Kingdom)

    1999-04-01

    Objective. To assess whether an association exists between patellar tendinosis and abnormal patellar tracking. Design and patients. The MRI examinations of 630 patients (i.e. 860 knees) referred with anterior knee pain over a 4-year period were assessed in retrospect for the presence of patellar tendinosis and abnormal patellar tracking. The images of the patients with patellar tendinosis were reviewed and the location within the patellar tendon was recorded. Results. There were 44 knees with proximal patellar tendinosis. Twenty-four of these were considered to have normal patellar tracking and 20 to have abnormal patellar tracking. In the group of 816 knees without proximal patellar tendinosis, 581 were considered to have normal patellar tracking and 235 knees to have abnormal patellar tracking. When the two groups were compared there was a statistically significant difference in the ratio of patients with and without abnormal tracking. Conclusion. In patients referred with anterior knee pain or suspected abnormal patellar tracking there is a significant association between proximal patellar tendinosis and abnormal patellar tracking. (orig.) With 2 figs., 5 tabs., 10 refs.

  2. Classification of breast abnormalities using artificial neural network

    Science.gov (United States)

    Zaman, Nur Atiqah Kamarul; Rahman, Wan Eny Zarina Wan Abdul; Jumaat, Abdul Kadir; Yasiran, Siti Salmah

    2015-05-01

    Classification is the process of recognition, differentiation and categorizing objects into groups. Breast abnormalities are calcifications which are tumor markers that indicate the presence of cancer in the breast. The aims of this research are to classify the types of breast abnormalities using artificial neural network (ANN) classifier and to evaluate the accuracy performance using receiver operating characteristics (ROC) curve. The methods used in this research are ANN for breast abnormalities classifications and Canny edge detector as a feature extraction method. Previously the ANN classifier provides only the number of benign and malignant cases without providing information for specific cases. However in this research, the type of abnormality for each image can be obtained. The existing MIAS MiniMammographic database classified the mammogram images into three features only namely characteristic of background tissues, class of abnormality and radius of abnormality. However, in this research three other features are added-in. These three features are number of spots, area and shape of abnormalities. Lastly the performance of the ANN classifier is evaluated using ROC curve. It is found that ANN has an accuracy of 97.9% which is considered acceptable.

  3. Abnormal grain growth in AISI 304L stainless steel

    Energy Technology Data Exchange (ETDEWEB)

    Shirdel, M., E-mail: mshirdel1989@ut.ac.ir [School of Metallurgy and Materials Engineering, College of Engineering, University of Tehran, P.O. Box 11155-4563, Tehran (Iran, Islamic Republic of); Mirzadeh, H., E-mail: hmirzadeh@ut.ac.ir [School of Metallurgy and Materials Engineering, College of Engineering, University of Tehran, P.O. Box 11155-4563, Tehran (Iran, Islamic Republic of); Advanced Metalforming and Thermomechanical Processing Laboratory, School of Metallurgy and Materials Engineering, University of Tehran, Tehran (Iran, Islamic Republic of); Parsa, M.H., E-mail: mhparsa@ut.ac.ir [School of Metallurgy and Materials Engineering, College of Engineering, University of Tehran, P.O. Box 11155-4563, Tehran (Iran, Islamic Republic of); Center of Excellence for High Performance Materials, School of Metallurgy and Materials Engineering, University of Tehran, Tehran (Iran, Islamic Republic of); Advanced Metalforming and Thermomechanical Processing Laboratory, School of Metallurgy and Materials Engineering, University of Tehran, Tehran (Iran, Islamic Republic of)

    2014-11-15

    The microstructural evolution during abnormal grain growth (secondary recrystallization) in 304L stainless steel was studied in a wide range of annealing temperatures and times. At relatively low temperatures, the grain growth mode was identified as normal. However, at homologous temperatures between 0.65 (850 °C) and 0.7 (900 °C), the observed transition in grain growth mode from normal to abnormal, which was also evident from the bimodality in grain size distribution histograms, was detected to be caused by the dissolution/coarsening of carbides. The microstructural features such as dispersed carbides were characterized by optical metallography, X-ray diffraction, scanning electron microscopy, energy dispersive X-ray analysis, and microhardness. Continued annealing to a long time led to the completion of secondary recrystallization and the subsequent reappearance of normal growth mode. Another instance of abnormal grain growth was observed at homologous temperatures higher than 0.8, which may be attributed to the grain boundary faceting/defaceting phenomenon. It was also found that when the size of abnormal grains reached a critical value, their size will not change too much and the grain growth behavior becomes practically stagnant. - Highlights: • Abnormal grain growth (secondary recrystallization) in AISI 304L stainless steel • Exaggerated grain growth due to dissolution/coarsening of carbides • The enrichment of carbide particles by titanium • Abnormal grain growth due to grain boundary faceting at very high temperatures • The stagnancy of abnormal grain growth by annealing beyond a critical time.

  4. The clinical and prognostic value of motor abnormalities in psychosis, and the importance of instrumental assessment.

    Science.gov (United States)

    van Harten, Peter N; Walther, Sebastian; Kent, Jerillyn S; Sponheim, Scott R; Mittal, Vijay A

    2017-07-13

    Motor abnormalities comprise several clinical signs intrinsic to psychosis. Critically, these features are of prognostic value in individuals at-risk for psychosis, and for those in early stages of psychotic disorders. Motor abnormalities such as tremor, rigidity, and neurological soft signs often go unrecognized. Currently, advances in this area are limited by a paucity of theoretical conceptions categorizing or linking these behaviours to underlying neurobiology affected in psychosis. However, emerging technological advances have significantly improved the ability to detect and assess motor abnormalities with objective instruments in a timely and reliable manner. Further, converging evidence has laid the groundwork for theoretically and empirically derived categorization and conceptualization. This review summarizes these advances, stressing the importance of motor abnormalities for understanding vulnerability across different stages of psychosis and introducing these innovative instrumental approaches. Patients, researchers and clinicians will benefit from these new developments, as better assessment aids the development of targeted interventions to ultimately improve the care for individuals experiencing psychosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Safety and Yield of Diagnostic ERCP in Liver Transplant Patients with Abnormal Liver Function Tests

    Directory of Open Access Journals (Sweden)

    Jayapal Ramesh

    2014-01-01

    Full Text Available Background. Abnormal liver enzymes postorthotopic liver transplant (OLT may indicate significant biliary pathology or organ rejection. There is very little known in the literature regarding the current role of diagnostic ERCP in this scenario. Aim. To review the utility of diagnostic ERCP in patients presenting with abnormal liver function tests in the setting of OLT. Methods. A retrospective review of diagnostic ERCPs in patients with OLT from 2002 to 2013 from a prospectively maintained, IRB approved database. Results. Of the 474 ERCPs performed in OLT patients, 210 (44.3%; 95% CI 39.8–48.8 were performed for abnormal liver function tests during the study period. Majority of patients were Caucasian (83.8%, male (62.4% with median age of 55 years (IQR 48–62 years. Biliary cannulation was successful in 99.6% of cases and findings included stricture in 45 (21.4 %; biliary stones/sludge in 23 (11%; biliary dilation alone in 31 (14.8%; and normal in 91 (43.3%. Three (1.4% patients developed mild, self-limiting pancreatitis; one patient (0.5% developed cholangitis and two (1% had postsphincterotomy bleeding. Multivariate analyses showed significant association between dilated ducts on imaging with a therapeutic outcome. Conclusion. Diagnostic ERCP in OLT patients presenting with liver function test abnormalities is safe and frequently therapeutic.

  6. Abnormal lateralization of functional connectivity between language and default mode regions in autism

    Science.gov (United States)

    2014-01-01

    Background Lateralization of brain structure and function occurs in typical development, and abnormal lateralization is present in various neuropsychiatric disorders. Autism is characterized by a lack of left lateralization in structure and function of regions involved in language, such as Broca and Wernicke areas. Methods Using functional connectivity magnetic resonance imaging from a large publicly available sample (n = 964), we tested whether abnormal functional lateralization in autism exists preferentially in language regions or in a more diffuse pattern across networks of lateralized brain regions. Results The autism group exhibited significantly reduced left lateralization in a few connections involving language regions and regions from the default mode network, but results were not significant throughout left- and right-lateralized networks. There is a trend that suggests the lack of left lateralization in a connection involving Wernicke area and the posterior cingulate cortex associates with more severe autism. Conclusions Abnormal language lateralization in autism may be due to abnormal language development rather than to a deficit in hemispheric specialization of the entire brain. PMID:24502324

  7. Cardiac Arrhythmias and Abnormal Electrocardiograms After Acute Stroke.

    Science.gov (United States)

    Ruthirago, Doungporn; Julayanont, Parunyou; Tantrachoti, Pakpoom; Kim, Jongyeol; Nugent, Kenneth

    2016-01-01

    Cardiac arrhythmias and electrocardiogram (ECG) abnormalities occur frequently but are often underrecognized after strokes. Acute ischemic and hemorrhagic strokes in some particular area of brain can disrupt central autonomic control of the heart, precipitating cardiac arrhythmias, ECG abnormalities, myocardial injury and sometimes sudden death. Identification of high-risk patients after acute stroke is important to arrange appropriate cardiac monitoring and effective management of arrhythmias, and to prevent cardiac morbidity and mortality. More studies are needed to better clarify pathogenesis, localization of areas associated with arrhythmias and practical management of arrhythmias and abnormal ECGs after acute stroke. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  8. Abnormal uterine bleeding unrelated to structural uterine abnormalities: management in the perimenopausal period.

    Science.gov (United States)

    Sabbioni, Lorenzo; Zanetti, Isabella; Orlandini, Cinzia; Petraglia, Felice; Luisi, Stefano

    2017-02-01

    Abnormal uterine bleeding (AUB) is one of the commonest health problems encountered by women and a frequent phenomenon during menopausal transition. The clinical management of AUB must follow a standardized classification system to obtain the better diagnostic pathway and the optimal therapy. The PALM-COEIN classification system has been approved by the International Federation of Gynecology and Obstetrics (FIGO); it recognizes structural causes of AUB, which can be measured visually with imaging techniques or histopathology, and non-structural entities such as coagulopathies, ovulatory dysfunctions, endometrial and iatrogenic causes and disorders not yet classified. In this review we aim to evaluate the management of nonstructural causes of AUB during the menopausal transition, when commonly women experience changes in menstrual bleeding patterns and unexpected bleedings which affect their quality of life.

  9. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U

    2007-01-01

    by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. RESULTS: Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal....... Ultrasound screening to assess chorionicity and follow-up of monochorionic pregnancies to detect signs of TTTS, as well as malformation screening, are therefore essential in the antenatal care of twin pregnancies.......OBJECTIVE: To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. METHODS: Enrolled into this prospective multicenter...

  10. Genital abnormalities in early childhood in sexual homicide perpetrators.

    Science.gov (United States)

    Rettenberger, Martin; Hill, Andreas; Dekker, Arne; Berner, Wolfgang; Briken, Peer

    2013-04-01

    INTRODUCTION.: The present study investigates the relevance of genital abnormalities (GA) like cryptorchidism, hypospadias, and phimosis usually diagnosed in early childhood for the development of psychosexual problems and deficits in a sample of N = 163 convicted sexual homicide perpetrators. AIMS.: The first aim was to investigate the prevalence of early childhood GA in a sample of sexual homicide perpetrators. The second was to explore differences in the psychosexual development of participants with GA in early childhood compared with those without GA. It was expected that offenders with GA show specific problems in their psychosexual development compared with offenders without GA. METHODS.: The data for the present study were obtained by reanalyzing an existing database derived from a large-scale research project about sexual homicide. Using a predominantly exploratory design we, therefore, divided the total sample into two subgroups (with vs. without indicators of GA). MAIN OUTCOME MEASURES.: Main outcome measures were the number of sexual homicide perpetrators showing GA in early childhood and the differences of subjects with and without GA with regard to their psychosexual development (i.e., according to sexual deviant interests or sexual dysfunctions). RESULTS.: The prevalence of GA is substantially higher in this sample than epidemiological studies indicated in the normal population. This result provided first support for the importance of GA in the population of sexual homicide perpetrators. Further analyses indicate significant differences between both subgroups: Offenders with GA in early childhood showed indicators for more sexual dysfunctions (e.g., erectile dysfunction) in adulthood and a distinct tendency of more masochistic sexual interests. CONCLUSION.: Even if the exploratory design of the present investigation allows no causal conclusions between GA and sexual homicide offenses, the result provided support for the relevance of early

  11. A reliable sewage quality abnormal event monitoring system.

    Science.gov (United States)

    Li, Tianling; Winnel, Melissa; Lin, Hao; Panther, Jared; Liu, Chang; O'Halloran, Roger; Wang, Kewen; An, Taicheng; Wong, Po Keung; Zhang, Shanqing; Zhao, Huijun

    2017-09-15

    With closing water loop through purified recycled water, wastewater becomes a part of source water, requiring reliable wastewater quality monitoring system (WQMS) to manage wastewater source and mitigate potential health risks. However, the development of reliable WQMS is fatally constrained by severe contamination and biofouling of sensors due to the hostile analytical environment of wastewaters, especially raw sewages, that challenges the limit of existing sensing technologies. In this work, we report a technological solution to enable the development of WQMS for real-time abnormal event detection with high reliability and practicality. A vectored high flow hydrodynamic self-cleaning approach and a dual-sensor self-diagnostic concept are adopted for WQMS to effectively encounter vital sensor failing issues caused by contamination and biofouling and ensure the integrity of sensing data. The performance of the WQMS has been evaluated over a 3-year trial period at different sewage catchment sites across three Australian states. It has demonstrated that the developed WQMS is capable of continuously operating in raw sewage for a prolonged period up to 24 months without maintenance and failure, signifying the high reliability and practicality. The demonstrated WQMS capability to reliably acquire real-time wastewater quality information leaps forward the development of effective wastewater source management system. The reported self-cleaning and self-diagnostic concepts should be applicable to other online water quality monitoring systems, opening a new way to encounter the common reliability and stability issues caused by sensor contamination and biofouling. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis.

    Science.gov (United States)

    Mademont-Soler, I; Morales, C; Soler, A; Martínez-Crespo, J M; Shen, Y; Margarit, E; Clusellas, N; Obón, M; Wu, B L; Sánchez, A

    2013-04-01

    To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies. First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement. Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced. In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

  13. Short break-up time type dry eye has potential ocular surface abnormalities.

    Science.gov (United States)

    Ichihashi, Yoshiyuki; Ide, Takeshi; Kaido, Minako; Ishida, Reiko; Hatou, Shin; Tsubota, Kazuo

    2015-01-01

    To describe a case series in which corneal fluorescein staining (CFS) development occurred in short break-up time (s-BUT) dry eyes after a short period during prolonged opening of the eye. The study was designed as a clinical case series. Ocular surface evaluations were performed on 13 individuals with s-BUT dry eye. Tear function examinations included Schirmer's test and BUT evaluation. In all 13 cases, the BUT was short, but the tear quantity was not so bad. In all cases, CFS developed following a single eye opening, and the staining was observed at sites that showed as dark spots. In several cases, the CFS disappeared later. In this study, we demonstrated that CFS could develop following a single eye opening. Based on our findings, CFS is a dynamic phenomenon rather than a stable indicator of ocular surface abnormalities. Moreover, s-BUT dry eye has the potential to show ocular surface abnormalities.

  14. Unsuspected glucose abnormalities in patients with coronary artery ...

    African Journals Online (AJOL)

    HbA1c), the American Diabetic Association (ADA) score and measures of the metabolic syndrome (waist circumference, high-density lipoprotein (HDL), and triglycerides) in predicting an initial diagnosis of diabetes mellitus or abnormal ...

  15. Retinal microvascular abnormalities and stroke: a systematic review

    NARCIS (Netherlands)

    Doubal, F.N.; Hokke, P.E.; Wardlaw, J.M.

    2009-01-01

    Background: Lacunar strokes account for 25% of ischaemic strokes, but their precise aetiology is unknown. Similarities between the retinal and cerebral small vessels mean that clarification of the exact relationship between retinal microvascular abnormalities and stroke, and particularly with stroke

  16. Abnormal Uterine Bleeding: American College of Nurse-Midwives.

    Science.gov (United States)

    2016-07-01

    Variations in uterine bleeding, termed abnormal uterine bleeding, occur commonly among women and often are physiologic in nature with no significant consequences. However, abnormal uterine bleeding can cause significant distress to women or may signify an underlying pathologic condition. Most women experience variations in menstrual and perimenstrual bleeding in their lifetimes; therefore, the ability of the midwife to differentiate between normal and abnormal bleeding is a key diagnostic skill. A comprehensive history and use of the PALM-COEIN classification system will provide clear guidelines for clinical management, evidence-based treatment, and an individualized plan of care. The purpose of this Clinical Bulletin is to define and describe classifications of abnormal uterine bleeding, review updated terminology, and identify methods of assessment and treatment using a woman-centered approach. © 2016 by the American College of Nurse-Midwives.

  17. Changing pattern of epithelial cell abnormalities using revised Bethesda system

    Directory of Open Access Journals (Sweden)

    Shagufta T. Mufti

    2014-10-01

    Conclusion: The percentage of abnormal PS is increasing (14.52% over the last decade. This increase is evident by different studies conducted across Saudi Arabia. Under present circumstances the need for mass screening.

  18. Effects of abnormal excitation on the dynamics of spiral waves

    Science.gov (United States)

    Min-Yi, Deng; Xue-Liang, Zhang; Jing-Yu, Dai

    2016-01-01

    The effect of physiological and pathological abnormal excitation of a myocyte on the spiral waves is investigated based on the cellular automaton model. When the excitability of the medium is high enough, the physiological abnormal excitation causes the spiral wave to meander irregularly and slowly. When the excitability of the medium is low enough, the physiological abnormal excitation leads to a new stable spiral wave. On the other hand, the pathological abnormal excitation destroys the spiral wave and results in the spatiotemporal chaos, which agrees with the clinical conclusion that the early after depolarization is the pro-arrhythmic mechanism of some anti-arrhythmic drugs. The mechanisms underlying these phenomena are analyzed. Project supported by the National Natural Science Foundation of China (Grant Nos. 11365003 and 11165004).

  19. Hysterosalpingographic abnormalities in women with infertility in a ...

    African Journals Online (AJOL)

    Background: Structural tubal abnormalities are responsible for infertility in significant proportion of infertile couples. Hysterosalpingography (HSG) being a simple, less invasive, relatively inexpensive, and reproducible rapid diagnostic test provides valuable information about the uterine cavity and tubal architecture.

  20. Abnormal Changes of Synaptic Excitability in Migraine with Aura

    DEFF Research Database (Denmark)

    Siniatchkin, Michael; Sendacki, Mascha; Moeller, Friederike

    2012-01-01

    Migraine patients are characterized by altered cortical excitability and information processing between attacks. The relationship between these abnormalities is still poorly understood. In this study, visual evoked potentials (VEP) and proton magnetic resonance spectroscopy were recorded simultan...