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Sample records for interstitial deletion 7q

  1. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

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    Kristen Dilzell

    2015-01-01

    Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

  2. An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

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    Trupti Kale

    2016-01-01

    Full Text Available Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

  3. Deletion affecting band 7q36 not associated with holoprosencephaly

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    Ebrahim, S.A.D.; Krivchenia, E.; Mohamed, A.N. [Wayne State Univ., Detroit, MI (United States)] [and others

    1994-09-01

    Although the appearance of 7q36 aberrations have been postulated to be responsible for holoprosencephaly (HPE), the presence of a de novo 7q36 deletion in fetus without HPE has not been reported. We report the first case of a fetus with 7q36 deletion but lacking HPE. Ultrasound examination of a 25-year-old G3P1 Caucasian female showed small head circumference with microcephaly at 28 weeks. Decreased amniotic fluid volume, bilateral renal dilatation and abnormal facial features were also noted. Chromosome analysis after cordocentesis showed an abnormal female karyotype with a deletion involving the chromosome band 7q36, 46,XX,del(7)(q36). Chromosome studies on the biological parents were normal. In view of the chromosome finding and after extensive counseling, the couple elected to terminate the pregnancy. The chromosome findings were confirmed by fetal blood chromosome analysis at termination. Post-mortem examination confirmed dysmorphic features including a depressed nasal bridge and large flat ears with no lobules, but no cleft lip or palate was noted. Internal abnormalities included a bicuspid pulmonary valve and abnormally located lungs. The brain weighed 190g (249 {plus_minus} 64g expected) and had symmetric cerebral hemispheres without evidence of HPE or other gross or microscopic malformation, except focal cerebellar cortical dysplasia. In summary, our patient showed a deletion of the same chromosomal band implicated in HPE but lacked HPE. This finding indicates that 7q36 deletion may be seen in the absence of HPE and suggests that other genetic mechanisms may be responsible for HPE in this setting.

  4. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

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    Wouters, C. H.; Meijers-Heijboer, H. J.; Eussen, B. J.; van der Heide, A. A.; van Luijk, R. B.; van Drunen, E.; Beverloo, B. B.; Visscher, F.; van Hemel, J. O.

    2001-01-01

    We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22.

  5. Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

    Science.gov (United States)

    Busa, Tiffany; Panait, Nicoleta; Chaumoitre, Kathia; Philip, Nicole; Missirian, Chantal

    2016-10-01

    Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature

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    Chih-Ping Chen

    2015-06-01

    Conclusion: Simultaneous occurrence of 7q deletion and 3p duplication can be associated with alobar holoprosencephaly. For the couple with a parental translocation involving 7q and 3p, prenatal ultrasound should include a detailed investigation of central nervous system anomalies.

  7. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

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    Brøndum-Nielsen, K; Beck, B; Gyftodimou, J

    1997-01-01

    Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone contain...... in WS patients, both for confirmation of diagnosis and for genetic counselling....

  8. A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report.

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    Bilen, S; Okten, A; Karaguzel, G; Ikbal, M; Aslan, Y

    2013-01-01

    Here we present a male newborn with multiple congenital anomalies who also has an extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X, without any mosaicism. SRY gene was positive by polymerase chain reaction (PCR), and rearranged on distal part of the 7th chromosome by fluorescence in situ hybridization (FISH) analysis. SRY, normally located on the Y chromosome, is the most important gene that plays a role in the development of male sex. SRY gen may be translocated onto another chromosome, mostly X chromosome in the XX testicular DSD. On the other hand very few cases of 45 X testicular DSD were published to date. Other clinical manifestations of our patient were compatible with distal 7 q deletion syndrome. To the best of our knowledge this is the first case of 45 X testicular DSD with SRY gene rearranged on the 7th autosomal chromosome.

  9. Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines.

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    An De Weer

    Full Text Available Chromosomal rearrangements involving the EVI1 proto-oncogene are a recurrent finding in myeloid leukemias and are indicative of a poor prognosis. Rearrangements of the EVI1 locus are often associated with monosomy 7 or cytogenetic detectable deletions of part of 7q. As EVI1 overexpression alone is not sufficient to induce leukemia, loss of a 7q tumour suppressor gene might be a required cooperating event. To test this hypothesis, we performed high-resolution array comparative genomic hybridization analysis of twelve EVI1 overexpressing patients and three EVI1 deregulated cell lines to search for 7q submicroscopic deletions. This analysis lead to the delineation of two critical regions, one of 0.39 Mb on 7q35 containing the CNTNAP2 gene and one of 1.33 Mb on chromosome bands 7q35-q36 comprising nine genes in EVI1 deregulated cell lines. These findings open the way to further studies aimed at identifying the culprit EVI1 implicated tumour suppressor genes on 7q.

  10. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

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    Peoples, R.; Perez-Jurado, L.; Francke, U.; Yu-Ker Wang [Stanford Univ. Medical Center, CA (United States); Kaplan, P. [Children`s Hospital of Philadelphia, PA (United States)

    1996-06-01

    Williams syndrome (WS) is a developmental disorder with multiple system manifestations, including supraval var aortic stenosis (SVAS), peripheral pulmonic stenosis, connective tissue abnormalities, short stature, characteristic personality profile and cognitive deficits, and variable hypercalcemia in infancy. It is caused by heterozygosity for a chromosomal deletion of part of band 7q11.23 including the elastin locus (ELN). Since disruption of the ELN gene causes autosomal dominant SVAS, it is assumed that ELN haploinsufficiency is responsible for the cardiovascular features of WS. The deletion that extends from the ELN locus in both directions is {ge}200 kb in size, although estimates of {ge}2 Mb are suggested by high-resolution chromosome banding and physical mapping studies. We have searched for additional dosage-sensitive genes within the deletion that may be responsible for the noncardiovascular features. We report here that the gene for replication factor C subunit 2 (RFC2) maps within the WS deletion region and was found to be deleted in all of 18 WS patients studied. The protein product of RFC2 is part of a multimeric complex involved in DNA elongation during replication. 14 refs., 3 figs.

  11. Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion

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    Cristina de Sylos

    2002-08-01

    Full Text Available We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

  12. The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.

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    Suri, Tanay; Dixit, Abhijit

    2017-10-01

    Weaver syndrome is a rare overgrowth syndrome with distinct facial features in young children and variable learning disability. Heterozygous missense mutations in EZH2 are present in over 90% of patients with Weaver syndrome but the exact mechanism by which EZH2 mutations cause Weaver syndrome is unknown. We report an 11-year-old boy with a de novo 1.2-Mb deletion at 7q36.1 including EZH2 who has tall stature, significant intellectual disability, and some physical features of Weaver syndrome. Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome. © 2017 Wiley Periodicals, Inc.

  13. Syndrome of proximal interstitial deletion 4p15

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    Fryns, J.P. [Univ. of Leuven (Belgium)

    1995-09-11

    In this journal, Chitayat et al. reported on 2 boys and a girl with interstitial deletion in the short arm of chromosome 4, including p15.2p15.33. All 3 patients had a characteristic face distinct from that of Wolf-Hirschhorn syndrome and multiple minor congenital anomalies. One patient had a congenitally enlarged penis. The authors noted that all had normal growth, and all had moderate psychomotor retardation (patient 1, developmental age of 4-6 years at age 9 years; patient 2, mental age 6 years at age 25 years; and patient 3, global delay with hypotonia, difficulties in both gross and fine motor development, and persistent delay in language skills). 5 refs., 1 fig.

  14. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, K; Beck, B; Gyftodimou, J

    1997-01-01

    containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients...... without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion...

  15. Molecular evidence for the induction of large interstitial deletions on mouse chromosome 8 by ionizing radiation

    International Nuclear Information System (INIS)

    Turker, Mitchell S.; Pieretti, Maura; Kumar, Sudha

    1997-01-01

    The P19H22 mouse embryonal carcinoma cell line is characterized by a hemizygous deficiency for the chromosome 8 encoded aprt (adenine phosphoribosyltransferase) gene and heterozygosity for many chromosome 8 loci. We have previously demonstrated that this cell line is suitable for mutational studies because it is permissive of events ranging in size from base-pair substitutions at the aprt locus to apparent loss of chromosome 8. Large mutational events, defined by loss of the remaining aprt allele, were found to predominate in spontaneous mutants and those induced by ionizing radiation. In this study we have used a PCR based assay to screen for loss of heterozygosity at microsatellite loci both proximal and distal to aprt in 137 Cs-induced and spontaneous aprt mutants. This approach allowed us to distinguish apparent interstitial deletional events from apparent recombinational events. Significantly, 32.5% (26 of 80) of the mutational events induced by 137 Cs appeared to be interstitial deletions as compared with 7.7% (6 of 78) in the spontaneous group. This difference was statistically significant (p 137 Cs caused a significant number of deletion mutations. Most 137 Cs-induced interstitial deletions were larger than 6 cM, whereas none of the spontaneous deletions were larger than 6 cM. These results provide further support for the notion that ionizing radiation induces deletion mutations and validate the use of the P19H22 cell line for the study of events induced by ionizing radiation

  16. Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

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    maas, S. M.; Hoovers, J. M.; van Seggelen, M. E.; Menzel, D. M.; Hennekam, R. C.

    2000-01-01

    We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases.

  17. Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

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    Lee, Jin Hwan; Kim, Hyo Jeong; Yoon, Jung Min; Cheon, Eun Jung; Lim, Jae Woo; Ko, Kyong Og; Lee, Gyung Min

    2016-01-01

    Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cas...

  18. The co-presence of deletion 7q, 20q and inversion 16 in therapy-related acute myeloid leukemia developed secondary to treatment of breast cancer with cyclophosphamide, doxorubicin, and radiotherapy: a case report

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    Yonal Ipek

    2012-02-01

    Full Text Available Abstract Introduction Therapy-related acute myeloid leukemia occurs as a complication of treatment with chemotherapy, radiotherapy, immunosuppressive agents or exposure to environmental carcinogens. Case presentation We report a case of therapy-related acute myeloid leukemia in a 37-year-old Turkish woman in complete remission from breast cancer. Our patient presented to our facility with fatigue, fever, sore throat, peripheral lymphadenopathy, and moderate hepatosplenomegaly. On peripheral blood and bone marrow aspirate smears, monoblasts were present. Immunophenotypic analysis of the bone marrow showed expression of CD11b, CD13, CD14, CD15, CD33, CD34, CD45 and human leukocyte antigen-DR, findings compatible with the diagnosis of acute monoblastic leukemia (French-American-British classification M5a. Therapy-related acute myeloid leukemia developed three years after adjuvant chemotherapy consisting of an alkylating agent, cyclophosphamide and DNA topoisomerase II inhibitor, doxorubicin and adjuvant radiotherapy. Cytogenetic analysis revealed a 46, XX, deletion 7 (q22q34, deletion 20 (q11.2q13.1 karyotype in five out of 20 metaphases and inversion 16 was detected by fluorescence in situhybridization. There was no response to chemotherapy (cytarabine and idarubicin, FLAG-IDA protocol, azacitidine and our patient died in the 11th month after diagnosis. Conclusions The median survival in therapy-related acute myeloid leukemia is shorter compared to de novoacute myeloid leukemia. Also, the response to therapy is poor. In therapy-related acute myeloid leukemia, complex karyotypes have been associated with abnormalities of chromosome 5, rather than 7. To the best of our knowledge, this is the first case of therapy-related acute myeloid leukemia showing the co-presence of deletion 7q, 20q and the inversion 16 signal.

  19. De Novo Interstitial Deletion of Chromosome 2 (p23p24

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    Pen-Hua Su

    2011-02-01

    Full Text Available Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna—congenital radioulnar synostosis—were first visualized by multidetector-row computed tomography scan.

  20. Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis Syndrome)

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    NONE

    1994-01-15

    Interstitial deletion of 17p11.2 is associated with Smith-Magenis syndrome. This is a recognizable chromosomal deletion syndrome, characterized by brachycephaly, midface hypoplasia, growth and mental retardation, behavioral problems, and ocular abnormalities. Molecular analysis indicates it is a contiguous gene syndrome. Over 50 patients have been reported since the deletion was first described by Smith et al. [1982]. Cases include one with mosaicism and a familial example. None were prenatally diagnosed. The authors report on the prenatal detection of interstitial deletion of 17p11.2. 11 refs., 1 fig.

  1. Interstitial Deletions of the Short Arm of Chromosome 4 in a Patient With Mental Retardation and Focal Seizure

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    Pen-Hua Su

    2011-06-01

    Full Text Available Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4(p12p15.2].

  2. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

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    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial de...

  3. Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

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    Gawlik-Kuklinska, Katarzyna; Wierzba, Jolanta; Wozniak, Agnieszka; Iliszko, Mariola; Debiec-Rychter, Maria; Dubaniewicz-Wybieralska, Miroslawa; Limon, Janusz

    2008-01-01

    We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.

  4. Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

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    Schuffenhauer, S.; Daumer-Haas, C.; Murken, J. [Ludwig-Maximilians-Universitaet Muenchen (Germany)] [and others

    1996-10-02

    Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, omphalocele, inguinal hernias, hypospadias, and club feet. The karyotype 46,XY,del(5)(pter{r_arrow}p13::cen{r_arrow}qter)/47,XY,+dicr(5)(:p13{r_arrow}cen::p13{r_arrow}cen),del(5)(pter{r_arrow}p13::cen{r_arrow}qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes. One breakpoint on the del(5) maps distal to GDNF, and FISH analysis using an {alpha}-satellite probe suggests that the proximal breakpoint maps within the centromere. The dicentric r(5) consists of two copies of the segment deleted in the del(5), resulting in trisomy of proximal 5p (5p13-cen). The phenotype of the propositus is compared with other trisomy 5p cases and possible mechanisms for the generation of this unique chromosomal rearrangement are discussed. 27 refs., 3 figs.

  5. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

    DEFF Research Database (Denmark)

    Møller, R S; Hansen, C P; Jackson, G D

    2007-01-01

    In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild mental retardation, epilepsy and polymicrogyria adjacent to an arachnoid cyst of the left temporal lobe. The deletion was ascertained through array-comparative genome hybridization screening of patien...

  6. Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

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    Chen, Chih-Ping; Lee, Meng-Ju; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Lee, Meng-Shan; Wang, Wayseen

    2013-10-25

    We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region. © 2013.

  7. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    DEFF Research Database (Denmark)

    Cingöz, Sultan; Bache, Iben; Bjerglund, Lise

    2011-01-01

    Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patien...

  8. Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation

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    Hertz, Jens Michael; Jensen, P H

    1985-01-01

    A 5-month-old female patient with psychomotor retardation and minor dysmorphisms is described. Cytogenetic analysis using high-resolution banding technique revealed an interstitial deletion of the short arm of one chromosome 1 (p21----p22.2) resulting from a de novo translocation t(1;2)(p22;p25)....

  9. A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.

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    Zarchi, O; Diamond, A; Weinberger, R; Abbott, D; Carmel, M; Frisch, A; Michaelovsky, E; Gruber, R; Green, T; Weizman, A; Gothelf, D

    2014-05-01

    22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS. Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls were compared for the rates of psychiatric disorders as well as cognitive executive and visuospatial functions. We found that while anxiety, mood and disruptive disorders had an equally high prevalence among individuals with 22q11.2DS, WS and DDs, the 22q11.2DS group had the highest rates of psychotic disorders and the WS group had the highest rates of specific phobia. We also found that the WS group demonstrated more severe impairments in both executive and visuospatial functions than the other groups. WS and 22q11.2DS subjects had worse Performance-IQ than Verbal-IQ, a feature typical of non-verbal learning disorders. These findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  10. Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome

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    Asou, Hiroya; Matsui, Hirotaka; Ozaki, Yuko; Nagamachi, Akiko; Nakamura, Megumi; Aki, Daisuke [Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan); Inaba, Toshiya, E-mail: tinaba@hiroshima-u.ac.jp [Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan)

    2009-05-29

    Monosomy 7 and interstitial deletions in the long arm of chromosome 7 (-7/7q-) is a common nonrandom chromosomal abnormality found frequently in myeloid disorders including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML). Using a short probe-based microarray comparative genomic hybridization (mCGH) technology, we identified a common microdeletion cluster in 7q21.3 subband, which is adjacent to 'hot deletion region' thus far identified by conventional methods. This common microdeletion cluster contains three poorly characterized genes; Samd9, Samd9L, and a putative gene LOC253012, which we named Miki. Gene copy number assessment of three genes by real-time PCR revealed heterozygous deletion of these three genes in adult patients with AML and MDS at high frequency, in addition to JMML patients. Miki locates to mitotic spindles and centrosomes and downregulation of Miki by RNA interference induced abnormalities in mitosis and nuclear morphology, similar to myelodysplasia. In addition, a recent report indicated Samd9 as a tumor suppressor. These findings indicate the usefulness of the short probe-based CGH to detect microdeletions. The three genes located to 7q21.3 would be candidates for myeloid tumor-suppressor genes on 7q.

  11. Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature

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    Chitayat, D.; Babul, R.; Teshima, I.E. [Univ. of Toronto, Ontario (Canada)] [and others

    1995-01-16

    We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome. 12 refs., 6 figs., 1 tab.

  12. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions : a European collaborative study

    NARCIS (Netherlands)

    Ryan, AK; Goodship, JA; Wilson, DI; Philip, N; Levy, A; Seidel, H; Schuffenhauer, S; Oechsler, H; Belohradsky, B; Prieur, M; Aurias, A; Raymond, FL; ClaytonSmith, J; Hatchwell, E; McKeown, C; Beemer, FA; Dallapiccola, B; Novelli, G; Hurst, JA; Ignatius, J; Green, AJ; Brueton, L; BrondumNielsen, K; Stewart, F; VanEssen, T; Patton, M; Paterson, J; Scambler, PJ

    1997-01-01

    We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight

  13. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

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    Manoochehr Karjoo

    2017-01-01

    Full Text Available Familial adenomatous polyposis (FAP is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less commonly, patients with FAP present with varying degrees of cognitive dysfunction and developmental delay, though the reason for the association is unclear. Herein, we report the case of a male patient born with an interstitial deletion of chromosome 5q, 46,XY, del(5 (q14q23, presenting with familial adenomatous polyposis (FAP, profound developmental delay, cognitive dysfunction, and multiple congenital anomalies including talipes equinovarus, agenesis of the corpus callosum, and dysmorphic facial features.

  14. De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype

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    Mohamed, A.N.; Bawle, E.; Conard, J. [Wayne State Univ., Detroit, MI (United States)] [and others

    1994-09-01

    Deletions involving the long arm of chromosome 9 are rare. A recent review, particularly with deletions of 9q22-32 region, failed to recognize a distinct pattern of dysmorphies and malformations. Herein, we described two phenotypically abnormal unrelated cases with interstitial deletion of chromosome 9 at band q22.1-q22.3. Parents of both cases exhibited normal karyotypes, indicating that the deletions were de novo events. Therefore, the clinical features present in these two cases can be attributed to partial monosomy for the deleted band 9q22. The first case was a 2-day-old baby with ambiguous genitalia, hydrocephalus, cleft palate and lip, polycystic kidney, absence of uterus on ultrasound and one gonad in the labiosacral region. Chromosome analysis showed a male karyotype, 46,XY,del(9)(q22.1q22.3). The absence of monosomy X cell line and the normal histology of testicular tissue were against the diagnosis of mixed gonadal dysgenesis or XY gonadal dysgenesis. The second 3-day-old newborn baby girl presented with right side hypoplastic heart and pulmonary atresia. In addition, the patient showed multiple dysmorphic features including epicanthal fold, low-set ears, depressed nasal bridge, hypertelorism, and micrognathia. The uvula is absent with slight cleft palate. Bilateral clinodactyly of 5th fingers and severe club feet were also present. The external genitalia was of a normal female phenotype. Chromosome study also indicated interstatial deletion of band 9q22. Although both cases appeared to have the same chromosomal anomalies, neither a discrete facial appearance nor a common pattern of malformations was noted.

  15. Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.

    Science.gov (United States)

    Bailey, Nathanael G; South, Sarah T; Hummel, Marybeth; Wenger, Sharon L

    2010-01-01

    We report on a two-year-old female with a de novo proximal interstitial deletion of the short arm of chromosome 4 and a tetralogy of Fallot malformation. The patient had a karyotype of 46,XX,del(4)(p14p15.33) that was further characterized by array comparative genomic hybridization (aCGH). Phenotypic abnormalities for our patient are compared with those of previously reported patients with similar proximal 4p deletions as well as more distal deletions. The functions of genes that are deleted within this segment are reviewed.

  16. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology

    Energy Technology Data Exchange (ETDEWEB)

    Lipson, A.; Sholler, G.; Issacs, D. [Royal Alexandra Hospital for Children, Sydney (Australia)] [and others

    1996-11-11

    We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. 58 refs., 3 figs.

  17. Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

    Energy Technology Data Exchange (ETDEWEB)

    Grace, K.; Mulla, W.; Stump, T. [Children`s Hospital of Philadelpha, PA (United States)] [and others

    1994-09-01

    It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relative head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.

  18. Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

    Directory of Open Access Journals (Sweden)

    Zagorac Andreja

    2011-08-01

    Full Text Available Abstract Background Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3. Discussion To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.

  19. 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

    Science.gov (United States)

    Bozza, Margherita; Bernardini, Laura; Novelli, Antonio; Brovedani, Paola; Moretti, Elena; Canapicchi, Raffaello; Doccini, Viola; Filippi, Tiziana; Battaglia, Agatino

    2013-05-01

    Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome, characterized by intellectual disability, language impairment, hearing deficit, craniofacial, ophthalmologic, cardiac, and varying central nervous system anomalies. We report on two dyzogotic twins with a maternal segregating hemizygous interstitial deletion on chromosome 6p25.1, spanning 0.9 kb; the smallest ever reported. Both had dysmorphic features (prominence of the metopic suture, synophrys, hypertelorism, down-slanting palpebral fissures, tented mouth), and a distinct brain MRI, showing a focal significant increase of the right peri-frontal subarachnoid space, with shallow sulci and a mild anomaly of the gyral pattern. Such brain anomaly has never been reported in association with del 6p25. Both propositi had a borderline-mild intellectual disability, speech and language difficulties, and behavior abnormalities. Their mother, formally tested, had a borderline cognitive impairment. Although none of the genes mapping to the deleted region are apparently related to the phenotype, LYRM4 resulted down-regulated in the cerebellar cortex of schizophrenia patients compared with controls, and Lyrm4 was down-regulated in the prefrontal cortex of mice with microdeletions in the locus syntenic to human 22q11.2 patients affected by schizophrenia. These data are in agreement with the emerging concept that similar CNVs are pathogenic in patients affected by distinct neurological diseases, and that these loci are more general risk factors for different disorders. The resemblance of our patients to those with the more extensive 6p25.1p25.3 terminal deletion suggests that the gene/s responsible for the physical phenotype should reside in the 6p25.1 genomic region. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  20. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

    Science.gov (United States)

    Chuang, Louise; Wakui, Keiko; Sue, Whey-Chen; Su, Mei-Hsu; Shaffer, Lisa G; Kuo, Pao-Lin

    2005-03-01

    We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki-Shaffer syndrome. The deleted region in our case-11p11.12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome. (c) 2005 Wiley-Liss, Inc.

  1. 3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

    Science.gov (United States)

    Okumura, Akihisa; Yamamoto, Toshiyuki; Miyajima, Masakazu; Shimojima, Keiko; Kondo, Satoshi; Abe, Shinpei; Ikeno, Mitsuru; Shimizu, Toshiaki

    2014-11-01

    Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. The contribution of 7q33 copy number variations for intellectual disability.

    Science.gov (United States)

    Lopes, Fátima; Torres, Fátima; Lynch, Sally Ann; Jorge, Arminda; Sousa, Susana; Silva, João; Rendeiro, Paula; Tavares, Purificação; Fortuna, Ana Maria; Maciel, Patrícia

    2018-01-01

    Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition. One family presents a small duplication in cis affecting CALD1 and AGBL3 genes, while the other four patients carry two larger deletions encompassing EXOC4, CALD1, AGBL3, and CNOT4. This work helps to refine the phenotype and narrow the minimal critical region involved in 7q33 CNVs. Comparison with similar cases and functional studies should help us clarify the relevance of the deleted genes for ID and behavioral alterations.

  3. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    Science.gov (United States)

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

  4. 7Q10 flows for SRS streams

    International Nuclear Information System (INIS)

    Chen, K.F.

    1996-01-01

    The Environmental Transport Group of the Environmental Technology Section was requested to predict the seven-day ten-year low flow (7Q10 flow) for the SRS streams based on historical stream flow records. Most of the historical flow records for the SRS streams include reactor coolant water discharged from the reactors and process water released from the process facilities. The most straight forward way to estimate the stream daily natural flow is to subtract the measured upstream reactor and/or facility daily effluents from the measured downstream daily flow. Unfortunately, this method does not always work, as indicated by the fact that sometimes the measured downstream volumetric flow rates are lower than the reactor effluent volumetric flow rates. For those cases that cannot be analyzed with the simple subtracting method, an alternative method was used to estimate the stream natural flows by statistically separating reactor coolant and process water flow data. The correlation between the calculated 7Q10 flows and the watershed areas for Four Mile Branch and Pen Branch agrees with that calculated by the USGS for Upper Three Runs and Lower Three Runs Creeks. The agreement between these two independent calculations lends confidence to the 7Q10 flow calculations presented in this report

  5. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Coerdt, W; Hahnemann, N

    1988-01-01

    A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies......, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p...

  6. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

    Science.gov (United States)

    Shim, Sung Han; Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Park, Ji Eun; Park, Sang Hee; Hwang, Euna; Kim, Minyoung

    2014-01-15

    Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. © 2013.

  7. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

    Science.gov (United States)

    Boudreau, Eilis A; Johnson, Kyle P; Jackman, Angela R; Blancato, Jan; Huizing, Marjan; Bendavid, Claude; Jones, Marypat; Chandrasekharappa, Settara C; Lewy, Alfred J; Smith, Ann C M; Magenis, R Ellen

    2009-07-01

    Smith-Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It is most commonly due to a 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion of melatonin, a hormone produced by the pineal gland, is the body's signal for nighttime darkness. Published reports of 24-hr melatonin secretion patterns in two independent SMS cohorts (US and France) document an inverted endogenous melatonin pattern in virtually all cases (96%), suggesting that this finding is pathognomic for the syndrome. We report on a woman with SMS due to an atypical large proximal deletion ( approximately 6Mb; cenTNFRSFproteinB) of chromosome band (17)(p11.2p11.2) who presents with typical sleep disturbances but a normal pattern of melatonin secretion. We further describe a melatonin light suppression test in this patient. This is the second reported patient with a normal endogenous melatonin rhythm in SMS associated with an atypical large deletion. These two patients are significant because they suggest that the sleep disturbances in SMS cannot be solely attributed to the abnormal diurnal melatonin secretion versus the normal nocturnal pattern.

  8. INTERSTITIAL DELETION 8P23.1 -8P23.2 – A CASE REPORT OF A POSTNATAL DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Vânia Ferreira

    2017-01-01

    Conclusion: Congenital heart defects are related with haploinsuficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.

  9. A case of de novo complex chromosomal abnormality involving a t(8;10) and an interstitial deletion 5q(q33.1-q34) characterized by GTG banding, FISH and cCGH

    OpenAIRE

    Oliva Teles, Natália; Pires, Silvia; Aguiar, Joaquim; Mota Freitas, Manuela; Marques, Bárbara; Correia, Hildeberto; Sales Marques, Jorge; Furtuna, Ana

    2012-01-01

    Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presenting with development delay, agenesis of the corpus callosum, hallux diverted into,...

  10. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13 encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-06-01

    Conclusion: A de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities.

  11. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Wang Shengyue

    2011-07-01

    Full Text Available Abstract Background Hepatocellular carcinoma (HCC is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64% mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%, 11 (21%, 11 (21% and 23 (44% of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

  12. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

    OpenAIRE

    Manoochehr Karjoo; Qurratul Ann Warsi; Devin Halleran; Marcus Rivera

    2017-01-01

    Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less co...

  13. Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

    DEFF Research Database (Denmark)

    Maegawa, Gustavo H B; Poplawski, Nicola K; Andresen, Brage Storstein

    2008-01-01

    We report on a 6-year-old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analysis revealed......) missense mutation in exon 3; however, only the mother was found to be a carrier of this novel missense mutation. This finding along with non-regressive developmental delay prompted further karyotype and genomic investigations. An interstitial deletion of chromosome 1 was detected by repeat G-banding: 46,XX...... of interstitial deletions with breakpoints of 1p22 and 1p31/32, including the patient in this report, indicate a variable phenotype. Thus, although G-band breakpoints are similar, common breakpoints for these alterations are unlikely. This is the first report of a patient with fatty acid oxidation defect caused...

  14. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Coerdt, W; Hahnemann, N

    1988-01-01

    A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a sli......21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2)....

  15. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

    Science.gov (United States)

    Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

    2016-01-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

  16. 7q21-rs6964587 and breast cancer risk

    DEFF Research Database (Denmark)

    Milne, Roger L; Lorenzo-Bermejo, Justo; Burwinkel, Barbara

    2011-01-01

    Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies....

  17. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling.

  18. Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.

    Science.gov (United States)

    Patel, Chirag; Cooper-Charles, Lisa; McMullan, Dominic J; Walker, Judith M; Davison, Val; Morton, Jenny

    2011-06-01

    Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1-3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1-7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene.

  19. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

    Science.gov (United States)

    Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre

    2007-02-15

    We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases. (c) 2007 Wiley-Liss, Inc.

  20. Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

    Directory of Open Access Journals (Sweden)

    Verhoeven WMA

    2016-05-01

    Full Text Available Willem MA Verhoeven,1,2 Jos IM Egger,1,3,4 Alida C Knegt,5 José Zuydam,6 Tjitske Kleefstra7 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, 2Department of Psychiatry, Erasmus University Medical Center, Rotterdam, 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, 5Department of Clinical Genetics, University of Amsterdam Medical Center, Amsterdam, 6Reigersdaal Institute for Intellectual Disabilities, Heerhugowaard, 7Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands Abstract: Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2 gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources, so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1–q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare developmental disorders with genetically proven etiology, a detailed inventory of

  1. Contribution of Interstitial Deletion of 21q22.2-3 per se to Prostate Cancer Progression in Tumors Harboring TMPRSS2-ERG Translocations

    Science.gov (United States)

    2015-12-01

    involvement of the interstitial-gene RNA per se in the action. We purchased the expression constructs of IGSF5 and FAM3B, and subcloned their coding...products separately into a TA vector, and subcloned the PCR products from the TA vector to the pLVX lentiviral construct (Fig. 5). Transient...cloned separately into the pGEMT vector. The 3’-UTRs were digested out of the pGEMT constructs using XhoI and BamHI, and subcloned into the pLVX

  2. An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Shuan-Pei; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Lee, Chen-Chi; Wang, Wayseen

    2013-10-15

    We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case. © 2013.

  3. A complex microsatellite at chromosome 7q33 as a new prognostic marker of colorectal cancer.

    Science.gov (United States)

    Ye, Xu; Deng, Hongyu; Su, Min; Liao, Qianjin; Huang, Dan; Liao, Duan-Fang; Xiao, Zhi-Qiang; Cao, Deliang

    2017-10-24

    Disease-specific markers are critical for early diagnosis, targeted therapy and prognostic prediction of diseases. Current study reports a complex microsatellite as a new prognostic marker of sporadic colorectal cancer. This microsatellite located at Chromosome 7q33 is composed of three tetranucleotide tandem repeats, (TTCC) 2 (TCCC) 5 (TCCT) 7 , flanked by a CT-rich sequence. We analyzed polymorphisms of this microsatellite in 158 sporadic colorectal cancer, 143 matched normal adjacent tissues (NAT) and 150 health donors. Our results showed that this complex microsatellite was instable with polymorphic frequency of 77.2% in colorectal cancer, 52.4% in NAT and 54.7% in health donors (pmicrosatellite, followed by (TTCC) 2 site for approximately 20%. Polymorphisms in (TCCC) 5 was rare. Polymorphisms at the (TCCT) 7 site were mainly insertions of 1 to 4 copies of TCCT (88.6%), and deletions occurred in about 6.4% of cases. The (TTCC) 2 site was featured with one copy TTCC insertions. Pair-wise analyses between colorectal tumors and NAT revealed that 88 of 121 (72.7%) tumors displayed expansion, contraction or both in these tetranucleotide tandem repeats when compared to NAT. A cross-analysis with clinicopathological data of 158 colorectal cancers revealed that polymorphic alterations of the microsatellite associated with less lymphatic metastasis (pmicrosatellite demonstrated better survival (n=112, p=0.0058). Together these data suggest that this complex microsatellite is a potential prognostic marker of sporadic colorectal cancer.

  4. Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

    Directory of Open Access Journals (Sweden)

    Egger JI

    2014-03-01

    Full Text Available Jos I M Egger,1–3 Willem M A Verhoeven,1,4 Wim Verbeeck,5 Nicole de Leeuw61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands; 2Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, the Netherlands; 3Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, the Netherlands; 4Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, the Netherlands; 5Vincent van Gogh Institute for Psychiatry, Centre for Autism and ADHD, Venray, the Netherlands; 6Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the NetherlandsAbstract: The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4–BP5 that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2–BP3 deletion (approximately 220 kb presenting with developmental delay, behavioral problems and mild facial dysmorphisms. Here, an adult male with a long history of maladaptive behaviors is described who was referred for diagnostic assessment of his amotivational features. Extensive neuropsychological examination demonstrated rigid thinking, anxious beliefs, and ideas of reference in the presence of normal intelligence. Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1–BP4 microdeletion that can be regarded as explanatory for his behavioral profile. It is concluded that microdeletion syndromes are not exclusively related to intellectual disabilities and

  5. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3–q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2015-10-01

    Conclusion: In the present case, the conventional cytogenetic analysis of cultured amniocytes revealed del(8(q23.3q24.13, whereas aCGH analysis of cultured amniocytes showed the deletions of 8q23.3–q24.11 and 8q24.13 with the presence of the segment 8q24.12. Therefore, aCGH provides the advantage of better understanding of the nature of interstitial deletion and genotype–phenotype correlation in this case.

  6. Interstitial Cystitis

    Science.gov (United States)

    ... bathroom at scheduled times and using relaxation techniques. Physical therapy. People who have interstitial cystitis may have painful spasms of pelvic floor muscles. If you have muscle spasms, you can ...

  7. Interstitial nephritis

    Science.gov (United States)

    ... Allergic reaction to a drug (acute interstitial allergic nephritis). Autoimmune disorders, such as antitubular basement membrane disease, Kawasaki disease, Sjögren syndrome, systemic lupus erythematosus, or Wegener granulomatosis. Infections. Long-term use ...

  8. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Ming-Huei; Chen, Yi-Yung; Chern, Schu-Rern; Chen, Yen-Ni; Wu, Peih-Shan; Pan, Chen-Wen; Lee, Meng-Shan; Wang, Wayseen

    2015-10-01

    The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis of amniocentesis revealed an interstitial deletion of chromosome 8q or del(8)(q23.3q24.13). Level II prenatal ultrasound examination revealed craniofacial dysmorphism. The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. Whole-genome array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes was performed. The analysis by aCGH revealed a result of arr 8q23.3q24.11 (116,087,006-118,969,399)×1, 8q24.13 (123,086,851-124,470,847)×1 (NCBI build 37) with a 2.88-Mb deletion of 8q23.3-q24.11 encompassing six OMIM genes, TRPS1, EIF3H, RAD21, SLC30A8, MED30, and EXT1, and a 1.383-Mb deletion of 8q24.13 encompassing four OMIM genes, ZHX2, DERL1, ZHX1, and ATAD2. In the present case, the conventional cytogenetic analysis of cultured amniocytes revealed del(8)(q23.3q24.13), whereas aCGH analysis of cultured amniocytes showed the deletions of 8q23.3-q24.11 and 8q24.13 with the presence of the segment 8q24.12. Therefore, aCGH provides the advantage of better understanding of the nature of interstitial deletion and genotype-phenotype correlation in this case. Copyright © 2015. Published by Elsevier B.V.

  9. Candidate region for Coffin-Siris syndrome at 7q32-->34.

    Science.gov (United States)

    McGhee, E M; Klump, C J; Bitts, S M; Cotter, P D; Lammer, E J

    2000-07-31

    Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome.

  10. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    DEFF Research Database (Denmark)

    Bonora, E.; Lamb, J.A.; Barnby, G.

    2005-01-01

    Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants...... in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect...

  11. Germline large genomic alterations on 7q in patients with multiple primary cancers

    DEFF Research Database (Denmark)

    Villacis, Rolando A R; Basso, Tatiane R; Canto, Luisa M

    2017-01-01

    triple negative breast tumors and no mutations in BRCA1, BRCA2 and TP53 genes. Germline rearrangements on chromosome 7q, involving over 40 Mb of the same region, were found in both patients: one with mosaic loss (80% of cells) and the other with cnLOH (copy-neutral loss of heterozygosity) secondary...

  12. Interstitial Cystitis Association

    Science.gov (United States)

    ... frequency? You may have IC. Get The Facts Interstitial Cystitis Association The Interstitial Cystitis Association (ICA) is the ... news and events. Please leave this field empty Interstitial Cystitis Association 7918 Jones Branch Drive, Suite 300 McLean, ...

  13. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    DEFF Research Database (Denmark)

    Bonora, E.; Lamb, J.A.; Barnby, G.

    2005-01-01

    Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants...... in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect...... for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility....

  14. Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

    DEFF Research Database (Denmark)

    Kristensen, Lone Krøldrup; Kjaergaard, S; Kirchhoff, Marianne

    2012-01-01

    with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression...

  15. [Interstitial lung diseases].

    Science.gov (United States)

    Junker, K; Brasch, F

    2008-11-01

    Interstitial lung diseases comprise a heterogeneous group of about 200 entities. In the classification of these diseases, diffuse parenchymal lung diseases with known cause, granulomatous diseases, and other specific interstitial lung diseases are separated from the important group of idiopathic interstitial pneumonias, which are classified according to the 2002 ATS/ERS consensus classification. Concerning the histological pattern, this classification differentiates between "usual interstitial pneumonia" (UIP), "nonspecific interstitial pneumonia" (NSIP), "organising pneumonia" (COP), "diffuse alveolar damage" (DAD), "respiratory bronchiolitis" (RB), "desquamative interstitial pneumonia" (DIP), "lymphocytic interstitial pneumonia" (LIP) and "unclassifiable interstitial pneumonias". A key message of this classification is that the pathologist will give the diagnosis of a histological pattern, whereas the final clinicopathologic diagnosis can be made only by the clinical pulmonologist after careful correlation with the clinical and radiologic features, which is essential in the diagnosis of interstitial lung diseases.

  16. [Cochlear implantation in a girl with 7q-microdeletion syndrome].

    Science.gov (United States)

    Roemer, A; Lenarz, T; Lesinski-Schiedat, A

    2018-03-01

    One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations. In the following we describe the course of disease and possible treatment options. We especially describe the possibility of cochlear implantation. We can show with this case report that, even though massive mental retardation is shown, cochlear implantation is useful in this patient. Associated disabilities as cardiac and pulmonary problems may occur and should be treated before cochlear implantation. This is the first report of cochlear implantation in a child affected with microdeletion 7q syndrome.

  17. Interstitial Lung Diseases

    Science.gov (United States)

    Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and ... is responsible for some types of interstitial lung diseases. Specific types include Black lung disease among coal ...

  18. A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate ...

    Indian Academy of Sciences (India)

    on a de novo 7q22.1 hemizygous microdeletion, 2.5 Mb in size, detected in our patient. Clinical report. An 8 year-old girl was referred for neurobehavioural dis- orders, moderate dysmorphic features, obesity and develop- mental delay evident since birth. She was the third child born to healthy nonconsanguineous parents.

  19. Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

    Science.gov (United States)

    Prontera, Paolo; Serino, Domenico; Caldini, Bernardo; Scarponi, Laura; Merla, Giuseppe; Testa, Giuseppe; Muti, Marco; Napolioni, Valerio; Mazzotta, Giovanni; Piccirilli, Massimo; Donti, Emilio

    2014-01-01

    The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language.…

  20. Children with 7q11.23 Duplication Syndrome: Psychological Characteristics

    Science.gov (United States)

    Mervis, Carolyn B.; Klein-Tasman, Bonita P.; Huffman, Myra J.; Velleman, Shelley L.; Pitts, C. Holley; Henderson, Danielle R.; Woodruff-Borden, Janet; Morris, Colleen A.; Osborne, Lucy R.

    2015-01-01

    To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we tested 63 children with classic Dup7 aged 4–17 years. Sixteen toddlers aged 18–45 months with classic Dup7 and 12 adults identified by cascade testing also were assessed. For the child group, median General Conceptual Ability (similar to IQ) on the Differential Ability Scales-II was 85.0 (low average), with a range from severe disability to high average ability. Median reading and mathematics achievement standard scores were at the low average to average level, with a range from severe impairment to high average or superior ability. Adaptive behavior was considerably more limited; median Scales of Independent Behavior—Revised Broad Independence standard score was 62.0 (mild impairment), with a range from severe adaptive impairment to average adaptive ability. Anxiety disorders were common, with 50.0% of children diagnosed with Social Phobia, 29.0% with Selective Mutism, 12.9% with Separation Anxiety Disorder, and 53.2% with Specific Phobia. In addition, 35.5% were diagnosed with Attention Deficit/Hyperactivity Disorder and 24.2% with Oppositional Defiant Disorder or Disruptive Behavior Disorder-Not Otherwise Specified. 33.3% of the children screened positive for a possible Autism Spectrum Disorder and 82.3% were diagnosed with Speech Sound Disorder. We compare these findings to previously reported results for children with Williams syndrome and argue that genotype/phenotype studies involving the Williams syndrome region offer important opportunities to understand the contribution of genes in this region to common disorders affecting the general population. PMID:25900101

  1. Acute interstitial pneumonia

    International Nuclear Information System (INIS)

    Cuervo M, Francisco; Carrillo Bayona, Jorge; Ojeda, Paulina

    2004-01-01

    The paper refers to a 71 year-old patient, to who is diagnosed acute interstitial pneumonia; with square of 20 days of evolution of cough dry emetizant, fever, general uneasiness, migraine, progressive dyspnoea and lost of weight

  2. Interstitial Lung Disease

    Science.gov (United States)

    ... grouped together under the label of idiopathic interstitial pneumonias, the most common and deadly of which is idiopathic pulmonary fibrosis. Risk factors Factors that may make you more susceptible to ...

  3. Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

    Science.gov (United States)

    McPherson, E W; Laneri, G; Clemens, M M; Kochmar, S J; Surti, U

    1997-09-05

    Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.

  4. A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids.

    Science.gov (United States)

    Okita, Chiga; Meguro, Makiko; Hoshiya, Hidetoshi; Haruta, Masayuki; Sakamoto, Yu-ki; Oshimura, Mitsuo

    2003-06-01

    We have previously established a series of human monochromosomal hybrids containing a single human chromosome of defined parental origin as an in vitro resource for the investigation of human imprinted loci. Using the hybrids with a paternal or maternal human chromosome 7, we determined the allelic expression profiles of 76 ESTs mapped to the human chromosome 7q21-q31. Seven genes/transcripts, including PEG10 which has previously been reported to be imprinted, showed parent-of-origin-specific expression in monochromosomal hybrids. One of the 6 candidate genes/transcripts, i.e., DLX5 was confirmed to be imprinted in normal human lymphoblasts and brain tissues by a polymorphic analysis. Thus, an imprinted domain has been newly defined in the region of human chromosome 7q21-q31 using human-mouse monochromosomal hybrids.

  5. 1p36 deletion syndrome: an update

    Directory of Open Access Journals (Sweden)

    Jordan VK

    2015-08-01

    Full Text Available Valerie K Jordan,1 Hitisha P Zaveri,2 Daryl A Scott1,2 1Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA Abstract: Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes. Keywords: chromosome 1p36, chromosome deletion, 1p36 deletion syndrome, monosomy 1p36

  6. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

    Science.gov (United States)

    2014-01-01

    Background Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. Results We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3. Conclusions Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification. PMID:25028595

  7. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    DEFF Research Database (Denmark)

    Sehested, Line T; Møller, Rikke S; Bache, Iben

    2010-01-01

    We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...

  8. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

    OpenAIRE

    Ruiz-Botero, Felipe; Pachajoa, Harry

    2016-01-01

    Background Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5?% of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5?Mb in length; this has led to an increase in the diagnosis of these pat...

  9. Interstitial Cystitis / Painful Bladder Syndrome

    Science.gov (United States)

    ... Vesicoureteral Reflux The Urinary Tract & How It Works Interstitial Cystitis (Painful Bladder Syndrome) View or Print All Sections Definition & Facts Interstitial cystitis (IC) is a chronic, or long-lasting, condition ...

  10. Tumor interstitial fluid

    DEFF Research Database (Denmark)

    Gromov, Pavel; Gromova, Irina; Olsen, Charlotta J.

    2013-01-01

    Tumor interstitial fluid (TIF) is a proximal fluid that, in addition to the set of blood soluble phase-borne proteins, holds a subset of aberrantly externalized components, mainly proteins, released by tumor cells and tumor microenvironment through various mechanisms, which include classical secr...

  11. Interstitial granulomatous dermatitis (IGD)

    NARCIS (Netherlands)

    Tebeica, Tiberiu; Voicu, Cristiana; Patterson, James W.; Mangarov, Hristo; Lotti, T.; Wollina, Uwe; Lotti, Jacopo; França, Katlein; Batashki, Atanas; Tchernev, Georgi

    2017-01-01

    We report the case of a 42 years old male patient suffering from skin changes, which appeared in the last 7-8 years. Two biopsies were performed during the evolution of the lesion. Both showed similar findings that consisted in a busy dermis with interstitial, superficial and deep infiltrates of

  12. Interstitial lung diseases in children

    Directory of Open Access Journals (Sweden)

    N. S. Lev

    2014-01-01

    Full Text Available The paper deals with interstitial lung diseases in children. It gives an update and the results of the authors’ observations of different forms of interstitial lung diseases. Particular emphasis is placed on hypersensitive pneumonitis as the most common nosological entity among childhood interstitial lung diseases. The authors followed up 186 children with hypersensitive pneumonitis. They present the most important clinical, functional, radiological, and immunological diagnostic signs of this disease and consider its prognosis. In addition, there is evidence for other rare forms of interstitial lung diseases (idiopathic interstitial pneumonia, idiopathic pulmonary hemosiderosis, etc. in children. 

  13. Interventional MR: interstitial therapy

    Energy Technology Data Exchange (ETDEWEB)

    Vogl, T.J.; Mack, M.G.; Straub, R.; Engelmann, K.; Eichler, K. [Dept. of Diagnostic and Interventional Radiology, Johann Wolfgang Goethe University, Frankfurt am Main (Germany); Mueller, P.K. [Department of Radiology, Virchow, Humboldt Univ. of Berlin (Germany)

    1999-10-01

    The rationale and results for interstitial therapies via interventional MRI in the treatment of tumors in various regions are presented. Different interstitial treatment techniques are presented based on varying technologies both for tumor ablation and treatment monitoring. Data are presented based on 335 patients, 29-84 years of age (mean age 59 years, 196 men and 139 women) with a total of 932 liver tumors, 16 head and neck tumors and 14 abdominal recurrent pelvic and lymphatic tumors. All lesions had been treated with MR-guided laser-induced interstitial thermotherapy (LITT) via 2516 laser applications and 1856 cannulations. Data in the literature are extremely varying depending on author experience, treatment technique, and the included patient material. In our patient material we were able to achieve a local tumor control of 96.7 % depending on the size of the tumorous lesion, the topographical relationship, and the applied laser parameters. The overall cumulative survival rate of patients with liver metastases was 45.74 months (median 40.97 months, 95 % confidence interval 31.42-50.52). The cumulative survival rate of the patient group with hepatic metastases of colorectal carcinoma was 42.71 months (median 39.33 months, 95 % confidence interval 33.26-45.37). In patients with head and neck tumors a relevant reduction in clinically relevant symptoms such as pain, swallowing disorders, or nervous compression was achieved in 11 of 15 patients treated with LITT. In 14 soft tissue tumors, such as pelvic tumor recurrence and lymph node metastases, a local tumor control was obtained in 68 % of lesions. Interstitial therapies under interventional MRI guidance, such as LITT, results in a high local tumor control with an improved survival rate. (orig.) With 7 figs., 28 refs.

  14. Interstitial Granulomatous Dermatitis (IGD

    Directory of Open Access Journals (Sweden)

    Tiberiu Tebeica

    2017-07-01

    Full Text Available We report the case of a 42 years old male patient suffering from skin changes , which appeared in the last 7-8 years.  Two biopsies were performed during the evolution of the lesion. Both showed similar findings that consisted in a busy dermis with interstitial, superficial and deep infiltrates of lymphocytes and histiocytes dispersed among collagen bundles, with variable numbers of neutrophils scattered throughout. Some histiocytes were clustered in poorly formed granuloma that included rare giant cells, with discrete Palisades and piecemeal collagen degeneration, but without mucin deposition or frank necrobiosis of collagen. The clinical and histologic findings were supportive for interstitial granulomatous dermatitis. Interstitial granulomatous dermatitis (IGD is a poorly understood entity that was regarded by many as belonging to the same spectrum of disease or even synonym with palisaded and neutrophilic granulomatous dermatitis (PNGD. Although IGD and PNGD were usually related to connective tissue disease, mostly rheumatoid arthritis, some patients with typical histologic findings of IGD never develop autoimmune disorders, but they have different underlying conditions, such as metabolic diseases, lymphoproliferative disorders or other malignant tumours. These observations indicate that IGD and PNGD are different disorders with similar manifestations.

  15. Interstitial line: sonographic finding in interstitial (cornual) ectopic pregnancy.

    Science.gov (United States)

    Ackerman, T E; Levi, C S; Dashefsky, S M; Holt, S C; Lindsay, D J

    1993-10-01

    To evaluate the relationship of the endometrial canal and decidua vera to the interstitial gestational sac and to determine if this relationship can be used to increase the predictive value of ultrasound (US) in the diagnosis of interstitial ectopic pregnancy. The US findings in 12 patients with interstitial ectopic pregnancy were reviewed. Radiologists also reviewed the cases of 40 patients with various diagnoses to assess the accuracy of the interstitial line sign. US showed a definite gestational sac in four of the 12 patients (33%); the rest had a heterogeneous mass in the cornual region. Thinning of the myometrial mantle was seen in these four patients. The gestational sac appeared eccentric in three of these but in only three of 12 (25%) overall. The endometrial canal or interstitial portion of the tube was identified in 11 of 12 patients (92%). The interstitial line had better sensitivity (80%) and specificity (98%) than eccentric gestational sac location (sensitivity, 40%; specificity, 88%) and myometrial thinning (sensitivity, 40%; specificity, 93%) for the diagnosis of interstitial ectopic pregnancy. The interstitial line sign is a useful diagnostic sign of interstitial ectopic pregnancy.

  16. Velo-cardio-facial syndrome: Frequency and textent of 22q11 deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Goldberg, R.; Jurecic, V. [and others

    1995-07-03

    Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phenotype, the evaluation of the incidence of deletions has been hampered by uncertainty of diagnosis. In this study, 54 patients were diagnosed with VCFS by a single group of clinicians using homogeneous clinical criteria independent of the deletion status. Cell lines of these patients were established and the deletion status evaluated for three loci within the commonly deleted region at 22q11.2 using fluorescence in situ hybridization (FISH). In 81% of the patients all three loci were hemizygous. In one patient we observed a smaller interstitial deletion than that defined by the three loci. The phenotype of this patient was not different from that observed in patients with larger deletions. 22 refs., 2 figs., 1 tab.

  17. Interstitial pregnancy: role of MRI

    International Nuclear Information System (INIS)

    Filhastre, M.; Lesnik, A.; Dechaud, H.; Taourel, P.

    2005-01-01

    We report the MRI features of two cases of interstitial pregnancy. In both cases, MRI was able to localize the ectopic pregnancy by showing a gestational structure surrounded by a thick wall in the upper part of the uterine wall separated from the endometrium by an uninterrupted junctional zone. Because US may confuse angular and interstitial pregnancies and because interstitial pregnancy has a particular evolutive course, MR imaging may play a key role in the diagnosis and management of women with interstitial pregnancy. (orig.)

  18. Partial deletion 11q

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Tommerup, N; Sørensen, F B

    1995-01-01

    We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...... frequently seen in proximal 11q deletions involving 11q21. Telomeric staining using the PRINS technique demonstrated normal telomeric sequences in the deleted chromosome 11....

  19. Interstitial cystitis intravesical therapy.

    Science.gov (United States)

    Ha, Tanya; Xu, Jie Hua

    2017-07-01

    Interstitial cystitis (IC) is a progressive bladder disorder that presents with symptoms of bladder urgency, frequency and pain. The aetiology of the disease remains uncertain, but it is postulated that there is an initial infective insult which damages the glycosaminoglycan (GAG) layer of the bladder urothelium. This defect allows an influx of ions, particularly potassium, which initiates an inflammatory reaction in the bladder wall, which incites the symptoms described above. Treatment initially involves behavioural and oral medication, with second line being intravesical instillation therapy. Treatment strategies focus on restoring lower urinary tract epithelial function, inhibiting neural activation, controlling allergies and relieving symptoms. In this review, current intravesical therapy will be discussed, as well as what lies on the horizon for intravesical therapy in IC.

  20. De novo partial duplication 7(q11.2{r_arrow}q21.2) in a dysmorphic, developmentally retarded boy

    Energy Technology Data Exchange (ETDEWEB)

    Ross, M.; Pinsky, L.; Teebi, A. [McGill Univ., Quebec (Canada)] [and others

    1994-09-01

    Chromosomal abnormalities involving chromosome 7q are rare; we report a case of partial duplication 7q. The propositus was born at 34 weeks by cesarian section, decided because of oligohydramnios, severe intrauterine growth retardation and fetal immobility. At birth, the baby was under the 5th percentile for height, weight and head circumference and had dysmorphic features, including slight asymmetry of the face, bilateral epicanthus, hypoplastic nasal bridge, short globular nose, asymmetrical dysplastic ears, fifth finger clinodactyly, short second and fifth toe. Ultrasound examination showed atrial and ventricular septal defects. At 18 months, the child had a fracture of the femur, secondary to a minor trauma; skeletal X-rays showed generalized osteoporosis and normal healing. The karyotype with GTG-banding showed a de novo partial duplication of the long arm of chromosome 7 (46,XX,dup(7)(q11.23{r_arrow}q21.2)). Fluorescence in situ hybridization with a painting probe specific for chromosome 7 confirmed the intra-chromosomal rearrangement. The patient`s phenotype and his chromosomal abnormality do not match the previously reported cases of partial trisomy 7q. This case confirms the importance of FISH for the delineation of the chromosomal inbalance in structural chromosomal aberrations.

  1. Kinetics of del(7 q) driven leukemogenesis in a patient with JAK2 V617F and TET2 mutated chronic myeloproliferative neoplasm

    DEFF Research Database (Denmark)

    Herborg, Laura Laine; Nederby, Line; Kjeldsen, Eigil

    2013-01-01

    Chronic myeloid neoplasms have susceptibility to transform into acute myeloid leukemia due to attainment of additional molecular lesions. We here describe the kinetics of a del(7q) driven leukemogenesis in a patient with multiple TET2 mutations and JAK2 V617F mutated chronic myeloproliferative...

  2. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

    Directory of Open Access Journals (Sweden)

    Evelyn N Kouwenhoven

    2010-08-01

    Full Text Available Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM, orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA-binding profiling by chromatin immunoprecipitation (ChIP, followed by deep sequencing (ChIP-seq in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in a patient with SHFM. Our study strongly indicates disruption of a non-coding cis-regulatory element located more than 250 kb from the DLX5/DLX6 genes as a novel disease mechanism in SHFM1. These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes.

  3. Interstitial cystitis: painful bladder syndrome

    OpenAIRE

    R F Sholan; G Sh Garaev; G M Nasrullaeva

    2018-01-01

    Interstitial cystitis, or painful bladder syndrome, is a chronic inflammatory disease of a bladder of unknown etiology. It negatively affects the quality of life, causes depressive disorders, anxiety, and sexual dysfunction. Despite numerous studies, the etiology of interstitial cystitis is still unclear and it’s considered as painful bladder syndrome with multifactorial origin. According to the US National Health and Nutrition Examination Survey, 470/100 000 people (60/100 000 men, 850/100 0...

  4. Double knockout of Bax and Bak from kidney proximal tubules reduces unilateral urethral obstruction associated apoptosis and renal interstitial fibrosis.

    Science.gov (United States)

    Mei, Shuqin; Li, Lin; Wei, Qingqing; Hao, Jielu; Su, Yunchao; Mei, Changlin; Dong, Zheng

    2017-03-20

    Interstitial fibrosis, a common pathological feature of chronic kidney diseases, is often associated with apoptosis in renal tissues. To determine the associated apoptotic pathway and its role in renal interstitial fibrosis, we established a mouse model in which Bax and Bak, two critical genes in the intrinsic pathway of apoptosis, were deleted specifically from kidney proximal tubules and used this model to examine renal apoptosis and interstitial fibrosis following unilateral urethral obstruction (UUO). It was shown that double knockout of Bax and Bak from proximal tubules attenuated renal tubular cell apoptosis and suppressed renal interstitial fibrosis in UUO. The results indicate that the intrinsic pathway of apoptosis contributes significantly to the tubular apoptosis and renal interstitial fibrosis in kidney diseases.

  5. Partial deletion 11q

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Tommerup, N; Sørensen, F B

    1995-01-01

    We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

  6. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  7. Quantum deletion: Beyond the no-deletion principle

    International Nuclear Information System (INIS)

    Adhikari, Satyabrata

    2005-01-01

    Suppose we are given two identical copies of an unknown quantum state and we wish to delete one copy from among the given two copies. The quantum no-deletion principle restricts us from perfectly deleting a copy but it does not prohibit us from deleting a copy approximately. Here we construct two types of a 'universal quantum deletion machine' which approximately deletes a copy such that the fidelity of deletion does not depend on the input state. The two types of universal quantum deletion machines are (1) a conventional deletion machine described by one unitary operator and (2) a modified deletion machine described by two unitary operators. Here it is shown that the modified deletion machine deletes a qubit with fidelity 3/4, which is the maximum limit for deleting an unknown quantum state. In addition to this we also show that the modified deletion machine retains the qubit in the first mode with average fidelity 0.77 (approx.) which is slightly greater than the fidelity of measurement for two given identical states, showing how precisely one can determine its state [S. Massar and S. Popescu, Phys. Rev. Lett. 74, 1259 (1995)]. We also show that the deletion machine itself is input state independent, i.e., the information is not hidden in the deleting machine, and hence we can delete the information completely from the deletion machine

  8. Interstitial cystitis: painful bladder syndrome

    Directory of Open Access Journals (Sweden)

    R F Sholan

    2018-02-01

    Full Text Available Interstitial cystitis, or painful bladder syndrome, is a chronic inflammatory disease of a bladder of unknown etiology. It negatively affects the quality of life, causes depressive disorders, anxiety, and sexual dysfunction. Despite numerous studies, the etiology of interstitial cystitis is still unclear and it’s considered as painful bladder syndrome with multifactorial origin. According to the US National Health and Nutrition Examination Survey, 470/100 000 people (60/100 000 men, 850/100 000 women are diagnosed with interstitial cystitis. Diagnosis of the disease is difficult and is substantially based on clinical symptoms. Pelvic pain, urinary urgency, frequency and nocturia are the basic complaints in this pathology. The diagnosis requires exclusion of diseases with similar manifestations. So interstitial cystitis is frequently misdiagnosed as urinary tract infection, overactive bladder, urethral obstruction or diverticulosis, chronic prostatitis, bladder cancer, vulvodynia, endometriosis, and chronic pelvic pain. Etiopathogenesis of the disease is uncertain, which makes etiologic treatment impossible. Currently scientific discussions on the causes of disease continue as well as different treatment regimens are offered, but are often ineffective, palliative and temporary. The treatment for intersticial cystitis should focus on restoring normal bladder function, prevention of relapse of symptoms and improvement of patients’ quality of life. The literature review presents current view on the terminology, epidemiology, diagnosis and treatment of interstitial cystitis.

  9. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

    NARCIS (Netherlands)

    Repping, Sjoerd; van Daalen, Saskia K. M.; Korver, Cindy M.; Brown, Laura G.; Marszalek, Janet D.; Gianotten, Judith; Oates, Robert D.; Silber, Sherman; van der Veen, Fulco; Page, David C.; Rozen, Steve

    2004-01-01

    The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12

  10. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study

    NARCIS (Netherlands)

    Campbell, Linda E.; Daly, Eileen; Toal, Fiona; Stevens, Angela; Azuma, Rayna; Catani, Marco; Ng, Virginia; van Amelsvoort, Therese; Chitnis, Xavier; Cutter, William; Murphy, Declan G. M.; Murphy, Kieran C.

    2006-01-01

    In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of

  11. 3p14 deletion is a rare contiguous gene syndrome : Report of 2 new patients and an overview of 14 patients

    NARCIS (Netherlands)

    Dimitrov, B. I.; Ogilvie, C.; Wieczorek, D.; Wakeling, E.; Sikkema-Raddatz, B.; van Ravenswaaij-Arts, C. M. A.; Josifova, D.

    Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patients have been reported in the literature to date, however, a specific clinical phenotype has not yet been delineated. We describe three patients (two new) with overlapping chromosome 3p14p12 deletions

  12. Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36.

    Science.gov (United States)

    Field, L L; Shumansky, K; Ryan, J; Truong, D; Swiergala, E; Kaplan, B J

    2013-02-01

    Analysis of genetic linkage to dyslexia was performed using 133,165 array-based SNPs genotyped in 718 persons from 101 dyslexia-affected families. Results showed five linkage peaks with lod scores >2.3 (4q13.1, 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). Of these five regions, three have been previously implicated in dyslexia (4q13.1, 16p12.1, and 17q22), three have been implicated in attention-deficit hyperactivity disorder (ADHD, which highly co-occurs with dyslexia; 4q13.1, 7q36.3, 16p12.1) and four have been implicated in autism (a condition characterized by language deficits; 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). These results highlight the reproducibility of dyslexia linkage signals, even without formally significant lod scores, and suggest dyslexia predisposing genes with relatively major effects and locus heterogeneity. The largest lod score (2.80) occurred at 17q22 within the MSI2 gene, involved in neuronal stem cell lineage proliferation. Interestingly, the 4q13.1 linkage peak (lod 2.34) occurred immediately upstream of the LPHN3 gene, recently reported both linked and associated with ADHD. Separate analyses of larger pedigrees revealed lods >2.3 at 1-3 regions per family; one family showed strong linkage (lod 2.9) to a known dyslexia locus (18p11) not detected in our overall data, demonstrating the value of analyzing single large pedigrees. Association analysis identified no SNPs with genome-wide significance, although a borderline significant SNP (P = 6 × 10(-7)) occurred at 5q35.1 near FGF18, involved in laminar positioning of cortical neurons during development. We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism. © 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.

  13. Ultrasound in Rheumatologic Interstitial Lung Disease: A Case Report of Nonspecific Interstitial Pneumonia in Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    A. Laria

    2015-01-01

    Full Text Available According to the American Thoracic Society (ATS/European Respiratory Society consensus classification, idiopathic interstitial pneumonias (IIPs include several clinic-radiologic-pathologic entities: idiopathic pulmonary fibrosis (IPF, usual interstitial pneumonia (UIP, nonspecific interstitial pneumonia (NSIP, cryptogenic organizing pneumonia, acute interstitial pneumonia, respiratory bronchiolitis-associated ILD, desquamative interstitial pneumonia, and lymphoid interstitial pneumonia. Ultrasound Lung Comets (ULCs are an echographic chest-sonography hallmark of pulmonary interstitial fibrosis. We describe the ultrasound (US findings in the follow-up of a NSIP’s case in rheumatoid arthritis (RA.

  14. Epidemiologic issues in interstitial cystitis

    NARCIS (Netherlands)

    Parsons, J. Kellogg; Kurth, Karlheinz; Sant, Grannum R.

    2007-01-01

    As a result of variations in disease definition and diagnostic criteria for interstitial cystitis (IC), the performance of epidemiologic studies has been challenging. Initial prevalence studies used physician-confirmed diagnoses of IC; more recent studies, which have incorporated the use of patient

  15. Thermotransport in interstitial solid solutions

    International Nuclear Information System (INIS)

    Fogel'son, R.L.

    1982-01-01

    On the basis of literature data the problem of thermotransport of impurities (H, N, O, C) in interstitial solid solutions is considered. It is shown that from experimental data on the thermotransport an important parameter of dissolved atoms can be found which characterizes atom state in these solutions-enthalpy of transport

  16. Epimorphin expression in interstitial pneumonia

    Directory of Open Access Journals (Sweden)

    Suga Moritaka

    2005-01-01

    Full Text Available Abstract Epimorphin modulates epithelial morphogenesis in embryonic mouse organs. We previously suggested that epimorphin contributes to repair of bleomycin-induced pulmonary fibrosis in mice via epithelium-mesenchyme interactions. To clarify the role of epimorphin in human lungs, we evaluated epimorphin expression and localization in normal lungs, lungs with nonspecific interstitial pneumonia (NSIP, and lungs with usual interstitial pneumonia (UIP; we also studied the effect of recombinant epimorphin on cultured human alveolar epithelial cells in vitro. Northern and Western blotting analyses revealed that epimorphin expression in NSIP samples were significantly higher than those in control lungs and lungs with UIP. Immunohistochemistry showed strong epimorphin expression in mesenchymal cells of early fibrotic lesions and localization of epimorphin protein on mesenchymal cells and extracellular matrix of early fibrotic lesions in the nonspecific interstitial pneumonia group. Double-labeled fluorescent images revealed expression of matrix metalloproteinase 2 in re-epithelialized cells overlying epimorphin-positive early fibrotic lesions. Immunohistochemistry and metalloproteinase activity assay demonstrated augmented expression of metalloproteinase induced by recombinant epimorphin in human alveolar epithelial cells. These findings suggest that epimorphin contributes to repair of pulmonary fibrosis in nonspecific interstitial pneumonia, perhaps partly by inducing expression of matrix metalloproteinase 2, which is an important proteolytic factor in lung remodeling.

  17. A high density of human communication-associated genes in chromosome 7q31-q36: differential expression in human and non-human primate cortices.

    Science.gov (United States)

    Schneider, E; Jensen, L R; Farcas, R; Kondova, I; Bontrop, R E; Navarro, B; Fuchs, E; Kuss, A W; Haaf, T

    2012-01-01

    The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communication skills and language has been a driving force of human brain development. The phenotypic adaptations in brain structure and function which occurred on the way to modern humans may be associated with specific molecular signatures in today's human genome and/or transcriptome. Genes that have been linked to language, reading, and/or autism spectrum disorders are prime candidates when searching for genes for human-specific communication abilities. The database and genome-wide expression analyses we present here revealed a clustering of such communication-associated genes (COAG) on human chromosomes X and 7, in particular chromosome 7q31-q36. Compared to the rest of the genome, we found a high number of COAG to be differentially expressed in the cortices of humans and non-human primates (chimpanzee, baboon, and/or marmoset). The role of X-linked genes for the development of human-specific cognitive abilities is well known. We now propose that chromosome 7q31-q36 also represents a hot spot for the evolution of human-specific communication abilities. Selective pressure on the T cell receptor beta locus on chromosome 7q34, which plays a pivotal role in the immune system, could have led to rapid dissemination of positive gene variants in hitchhiking COAG. Copyright © 2012 S. Karger AG, Basel.

  18. 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

    Directory of Open Access Journals (Sweden)

    Di Benedetto Daniela

    2013-01-01

    Full Text Available Abstract Background The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. Results High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID, Autism Spectrum Disorders (ASDs, and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. Conclusions We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.

  19. Distinct subtypes of genomic PTEN deletion size influence the landscape of aneuploidy and outcome in prostate cancer.

    Science.gov (United States)

    Vidotto, Thiago; Tiezzi, Daniel Guimarães; Squire, Jeremy A

    2018-01-01

    Inactivation of the PTEN tumor suppressor gene by deletion occurs in 20-30% of prostate cancer tumors and loss strongly correlates with a worse outcome. PTEN loss of function not only leads to activation of the PI3K/AKT pathway, but is also thought to affect genome stability and increase levels of tumor aneuploidy. We performed an in silico integrative genomic and transcriptomic analysis of 491 TCGA prostate cancer tumors. These data were used to map the genomic sizes of PTEN gene deletions and to characterize levels of instability and patterns of aneuploidy acquisition. PTEN homozygous deletions had a significant increase in aneuploidy compared to PTEN tumors without an apparent deletion, and hemizygous deletions showed an intermediate aneuploidy profile. A supervised clustering of somatic copy number alterations (SCNA) demonstrated that the size of PTEN deletions was not random, but comprised five distinct subtypes: (1) "Small Interstitial" (70 bp-789Kb); (2) "Large Interstitial" (1-7 MB); (3) "Large Proximal" (3-65 MB); (4) "Large Terminal" (8-64 MB), and (5) "Extensive" (71-132 MB). Many of the deleted fragments in each subtype were flanked by low copy repetitive (LCR) sequences. SCNAs such as gain at 3q21.1-3q29 and deletions at 8p, RB1 , TP53 and TMPRSS2-ERG were variably present in all subtypes. Other SCNAs appeared to be recurrent in some deletion subtypes, but absent from others. To determine how the aneuploidy influenced global levels of gene expression, we performed a comparative transcriptome analysis. One deletion subtype (Large Interstitial) was characterized by gene expression changes associated with angiogenesis and cell adhesion, structure, and metabolism. Logistic regression demonstrated that this deletion subtype was associated with a high Gleason score (HR = 2.386; 95% C.I. 1.245-4.572), extraprostatic extension (HR = 2.423, 95% C.I. 1.157-5.075), and metastasis (HR = 7.135; 95% C.I. 1.540-33.044). Univariate and multivariate

  20. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients

    Energy Technology Data Exchange (ETDEWEB)

    Lowery, M.C.; Brothman, L.J.; Leonard, C.O. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] [and others

    1995-07-01

    Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was studied, and molecular cytogenetic deletions were seen in 96% of patients with classic WS. Patients included 195 solicited through the Williams Syndrome Association (WSA), plus 40 clinical cytogenetics cases referred by primary-care physicians. Photographs and medical records of most WSA subjects were reviewed, and patients were identified as {open_quotes}classic{open_quotes} (n = 114) or{open_quotes}uncertain{close_quotes} (n = 39). An additional 42 WSA patients were evaluated without clinical information. FISH was performed with biotinylated ELN cosmids on metaphase cells from immortalized lymphoblastoid lines from WSA patients and after high-resolution banding analysis on clinical referral patients. An alpha-satellite probe for chromosome 7 was included in hybridizations, as an internal control. Ninety-six percent of the patients with classic WS showed a deletion in one ELN allele; four of these did not show a deletion. Of the uncertain WS patients, only 3 of 39 showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. Thirty-eight percent (15/40) of clinical cytogenetics cases showed an ELN deletion and no cytogenetic deletion by banded analysis. These results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WS. 14 refs., 2 figs., 4 tabs.

  1. Interstitial microwave hyperthermia treatment investigations

    International Nuclear Information System (INIS)

    Siauve, N; Lormel, C

    2012-01-01

    Microwave ablation also called interstitial hyperthermia is a medical procedure used in the treatment of many cancers, cardiac arrhythmias and other medical conditions. With this medical therapy, an electromagnetic source (antenna) is directly positioned in the target tissue and a sufficient power is injected to necrosis the tissue. The aim of this study is to propose a design procedure and develop the associated tools, for determining the optimal shape, dimensions, type and operating frequency of antenna according to the target volume. In this context, a 3D numerical predictive model of temperature elevation induced by the electric fields and two benches for thermal and electrical tissues properties characterization have been developed. To validate the procedure and the different tools, an experimental bench test which includes interstitial antenna, external microwave generator, phantom that represents the target tissue and measurement system of temperature and electric field has been elaborated.

  2. Promyelocytic Leukemia with No Retinoic Acid Receptor Alpha Abnormality but with RUNX1T1 Insertion to Chromosome 7q: A Classification and Management Dilemma

    Directory of Open Access Journals (Sweden)

    Kathleen Overholt

    2015-01-01

    Full Text Available A case of acute promyelocytic leukemia (APL with RUNX1T1 insertion to 7q is described and compared to reported cases of APL with negative retinoic acid receptor alpha (RARA abnormality. In this report, we describe the case of a 2-year-old boy who presented with bone pain and was found to have pancytopenia. Bone marrow examination showed morphologic and immunophenotypic findings typical of APL, but conventional cytogenetics, fluorescence in situ hybridization (FISH, and real-time polymerase chain reaction (RT-PCR showed no evidence of RARA rearrangements. The only cytogenetic abnormality found was a small insertion in 7q, and three copies of RUNX1T1. Gene sequencing results became available after initiating therapy but were not informative. We describe the rarity of such cases and discuss how the typical morphologic and immunophenotypic findings of APL, coupled with the definite absence of RARA rearrangement (by FISH and RT-PCR, present a diagnostic and classification dilemma, raising the possibility of an unknown alternative mechanism for the leukemogenesis and maturation arrest seen in other APL variants. The diagnostic challenges and urgent management issues this unusual case raises may justify including it, along with similar cases, in a separate subtype of acute myeloid leukemia (AML in future classifications.

  3. Interstitial guidance of cancer invasion.

    Science.gov (United States)

    Gritsenko, Pavlo G; Ilina, Olga; Friedl, Peter

    2012-01-01

    Cancer cell invasion into healthy tissues develops preferentially along pre-existing tracks of least resistance, followed by secondary tissue remodelling and destruction. The tissue scaffolds supporting or preventing guidance of invasion vary in structure and molecular composition between organs. In the brain, the guidance is provided by myelinated axons, astrocyte processes, and blood vessels which are used as invasion routes by glioma cells. In the human breast, containing interstitial collagen-rich connective tissue, disseminating breast cancer cells preferentially invade along bundled collagen fibrils and the surface of adipocytes. In both invasion types, physical guidance prompted by interfaces and space is complemented by molecular guidance. Generic mechanisms shared by most, if not all, tissues include (i) guidance by integrins towards fibrillar interstitial collagen and/or laminins and type IV collagen in basement membranes decorating vessels and adipocytes, and, likely, CD44 engaging with hyaluronan; (ii) haptotactic guidance by chemokines and growth factors; and likely (iii) physical pushing mechanisms. Tissue-specific, resticted guidance cues include ECM proteins with restricted expression (tenascins, lecticans), cell-cell interfaces, and newly secreted matrix molecules decorating ECM fibres (laminin-332, thrombospondin-1, osteopontin, periostin). We here review physical and molecular guidance mechanisms in interstitial tissue and brain parenchyma and explore shared principles and organ-specific differences, and their implications for experimental model design and therapeutic targeting of tumour cell invasion. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  4. (AJST) GENERALISED DELETION DESIGNS

    African Journals Online (AJOL)

    th row if the t-th level is deleted from factor Fj in the preliminary design d-p to obtain d and xss j is an s x s permutation matrix with 1 in the aj - th column of the o-th row. We shall also write j j a j j. * a. cDPDc d j j. ′. ′= (3.2) where cj is a contrast ...

  5. Smoking-related interstitial lung diseases

    International Nuclear Information System (INIS)

    Marten, K.

    2007-01-01

    The most important smoking-related interstitial lung diseases (ILD) are respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, desquamative interstitial pneumonia, and Langerhans' cell histiocytosis. Although traditionally considered to be discrete entities, smoking-related ILDs often coexist, thus accounting for the sometimes complex patterns encountered on high-resolution computed tomography (HRCT). Further studies are needed to elucidate the causative role of smoking in the development of pulmonary fibrosis

  6. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Maas, N.; Thoelen, R.; Vogels, A.; Smeets, D.F.C.M.; Salden, I.; Matthijs, G.; Fryns, J.P.; Vermeesch, J.

    2005-01-01

    We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia,

  7. Sexual Dysfunction in Interstitial Cystitis.

    Science.gov (United States)

    Tonyali, Senol; Yilmaz, Mehmet

    2017-11-01

    Interstitial cystitis (IC)/bladder pain syndrome (BPS) is a debilitating disease characterized with urgency, frequency, and pelvic pain affecting especially women. Sexual dysfunction in female patients with IC/BPS consists of dyspareunia, altered sexual desire and orgasm frequency and insufficient lubrication is reported to negatively affect the patient's quality of life. In the present study, we aimed to determine the association between IC/BPS and sexual dysfunction and improvement in sexual dysfunction related to given treatments. A PubMed/Medline and EMBASE search was conducted using keywords: "interstitial cystitis", "sexual dysfunction", and "bladder pain syndrome". Several studies have been conducted to determine the relation between IC/BPS and sexual dysfunction. And also limited studies focusing on IC/BPS specific treatments reported significant improvements in sexual function after either oral or intravesical treatment. However, given the used different questionnaires, study protocols, patient characteristics, previous treatments and follow-up period, it is not possible to make a head-to-head comparison of the treatment effects on sexual function. Further, randomized controlled studies are needed to confirm these results and make a comparison between effects of various treatment modalities on sexual functioning in IC/BPS.

  8. Interstitial ectopic pregnancy: a case report.

    Science.gov (United States)

    Alagbe, Olayemi Atinuke; Adeniyi, Tinuola Omolade; Abayomi, Olawale Ayobami; Onifade, Emmanuel Olugbenga

    2017-01-01

    Interstitial ectopic pregnancy is a rare type of tubal pregnancy that poses diagnostic challenge. It is associated with the highest risk of massive, uncontrollable bleeding and can result in uterine rupture in the second trimester. This is a rare case of unruptured interstitial ectopic diagnosed in the first trimester by ultrasonography and managed medically with systemic methrotrexate and serial ultrasound monitoring.`.

  9. Pitfalls in diagnosis of interstitial pregnancy.

    Science.gov (United States)

    Chan, Louis Yik-Si; Fok, Wing Yee; Yuen, Pong Mo

    2003-09-01

    To determine the incidence and reasons for misdiagnosis in interstitial ectopic pregnancy. We conducted a retrospective study from 1990 to 2001. Women with interstitial pregnancy were identified and their case records retrieved and reviewed. Reasons for delay in diagnosis and associated morbidity were recorded. Thirty-six women were diagnosed as having interstitial pregnancy during the study period. Initial diagnosis was incorrect in 15 cases (41.7%). In 14 cases, the interstitial pregnancies were mistaken as intrauterine pregnancy. These misdiagnoses resulted in six inappropriate surgical procedures (evacuation of uterus) being performed and led to rupture of interstitial pregnancy in eight women. In two women, the interstitial pregnancy was mistaken as normal intrauterine pregnancy while the uterus itself was thought to be a cervical fibroid. In both cases, the interstitial pregnancies ruptured at 18-20 weeks of gestation. Despite advances in sonographic skills and equipment and the availability of beta-human chorionic gonadotropin (hCG) monitoring, misdiagnosis of interstitial pregnancy still occurs frequently. Clinicians should be aware of the limitations of various investigations and maintain a high index of suspicion.

  10. Telomere length in interstitial lung diseases

    NARCIS (Netherlands)

    Snetselaar, Reinier; Van Moorsel, Coline H M; Kazemier, Karin M.; Van Der Vis, Joanne J.; Zanen, Pieter; Van Oosterhout, Matthijs F M; Grutters, Jan C.

    2015-01-01

    Background: Interstitial lung disease (ILD) is a heterogeneous group of rare diseases that primarily affect the pulmonary interstitium. Studies have implicated a role for telomere length (TL) maintenance in ILD, particularly in idiopathic interstitial pneumonia (IIP). Here, we measure TL in a wide

  11. The interstitial pneumonitis induced by cytostatics

    International Nuclear Information System (INIS)

    Dubrava, M.; Markova, I.; Mistina, L.

    1998-01-01

    The author presents a cause of 9-year old boy with ALL-F2B in the stage of the prevention treatment where in the its course the induced interstitial pneumonitis by cytostatics was developed. The bacterial, virus, mycological and parasitic causes of the interstitial pneumonitis on the basis of the bronchoscopy, BAL, CT, scintigraphy, laboratory and by cultivation were excluded. (authors)

  12. The behavior of interstitials in irradiated graphite

    International Nuclear Information System (INIS)

    Pedraza, D.F.

    1991-01-01

    A computer model is developed to simulate the behavior of self-interstitials with particular attention to clustering. Owing to the layer structure of graphite, atomistic simulations can be performed using a large parallelepipedic supercell containing a few layers. In particular, interstitial clustering is studied here using a supercell that contains two basal planes only. Frenkel pairs are randomly produced. Interstitials are placed at sites between the crystal planes while vacancies are distributed in the two crystal planes. The size of the computational cell is 20000 atoms and periodic boundary conditions are used in two dimensions. Vacancies are assumed immobile whereas interstitials are given a certain mobility. Two point defect sinks are considered, direct recombination of Frenkel pairs and interstitial clusters. The clusters are assumed to be mobile up to a certain size where they are presumed to become loop nuclei. Clusters can shrink by emission of singly bonded interstitials or by recombination of a peripheral interstitial with a neighboring vacancy. The conditions under which interstitial clustering occurs are reported. It is shown that when clustering occurs the cluster size population gradually shifts towards the largest size cluster. The implications of the present results for irradiation growth and irradiation-induced amorphization are discussed

  13. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.

    Science.gov (United States)

    Tug, E; Cine, N; Aydin, H

    2011-01-01

    Smith-Magenis syndrome (SMS), which occurs as a result of an interstitial deletion within chromosome 17p11.2-p12, is a disorder that presents itself with minor dysmorphic features, brachydactyly, short stature, hypotonia, delayed speech, cognitive deficits and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behavior. We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-p12, approximately 4.73 Mb in size was determined. Characteristic physical and behavioral phenotype strongly suggested SMS. This, to the best of our knowledge is the first patient with SMS reported in Turkey. We emphasize the need for whole genome analysis in multiple congenital abnormalities/mental retardation disorders with unusual and severe phenotypes.

  14. Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.

    Science.gov (United States)

    Broadbent, Hannah; Farran, Emily K; Chin, Esther; Metcalfe, Kay; Tassabehji, May; Turnpenny, Peter; Sansbury, Francis; Meaburn, Emma; Karmiloff-Smith, Annette

    2014-01-01

    Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed.

  15. Interstitial lung disease: Diagnostic approach

    Directory of Open Access Journals (Sweden)

    Kaushik Saha

    2014-01-01

    Full Text Available Interstitial lung disease (ILD is a final common pathway of a broad heterogeneous group of parenchymal lung disorders. It is characterized by progressive fibrosis of the lung leading to restriction and diminished oxygen transfer. Clinically, the presenting symptoms of ILD are non-specific (cough and progressive dyspnea on exertion and are often attributed to other diseases, thus delaying diagnosis and timely therapy. Clues from the medical history along with the clinical context and radiologic findings provide the initial basis for prioritizing diagnostic possibilities for a patient with ILD. An accurate prognosis and optimal treatment strategy for patients with ILDs can only be after an accurate diagnosis. This review will assist pulmonary physicians and medicine specialist in recognition of ILD. Extensive literature search has been made through PubMed and also Book References has been used for writing this review.

  16. Navigation system for interstitial brachytherapy

    International Nuclear Information System (INIS)

    Strassmann, G.; Kolotas, C.; Heyd, R.

    2000-01-01

    The purpose of the stud was to develop a computed tomography (CT) based electromagnetic navigation system for interstitial brachytherapy. This is especially designed for situations when needles have to be positioned adjacent to or within critical anatomical structures. In such instances interactive 3D visualisation of the needle positions is essential. The material consisted of a Polhemus electromagnetic 3D digitizer, a Pentium 200 MHz laptop and a voice recognition for continuous speech. In addition, we developed an external reference system constructed of Perspex which could be positioned above the tumour region and attached to the patient using a non-invasive fixation method. A specially designed needle holder and patient bed were also developed. Measurements were made on a series of phantoms in order to study the efficacy and accuracy of the navigation system. The mean navigation accuracy of positioning the 20.0 cm length metallic needles within the phantoms was in the range 2.0-4.1 mm with a maximum of 5.4 mm. This is an improvement on the accuracy of a CT-guided technique which was in the range 6.1-11.3 mm with a maximum of 19.4 mm. The mean reconstruction accuracy of the implant geometry was 3.2 mm within a non-ferromagnetic environment. We found that although the needles were metallic this did not have a significant influence. We also found for our experimental setups that the CT table and operation table non-ferromagnetic parts had no significant influence on the navigation accuracy. This navigation system will be a very useful clinical tool for interstitial brachytherapy applications, particularly when critical structures have to be avoided. It also should provide a significant improvement on our existing technique

  17. Chylothorax in dermatomyositis complicated with interstitial pneumonia.

    Science.gov (United States)

    Isoda, Kentaro; Kiboshi, Takao; Shoda, Takeshi

    2017-04-01

    Chylothorax is a disease in which chyle leaks and accumulates in the thoracic cavity. Interstitial pneumonia and pneumomediastinum are common thoracic manifestations of dermatomyositis, but chylothorax complicated with dermatomyositis is not reported. We report a case of dermatomyositis with interstitial pneumonia complicated by chylothorax. A 77-year-old woman was diagnosed as dermatomyositis with Gottron's papules, skin ulcers, anti-MDA5 antibody and rapid progressive interstitial pneumonia. Treatment with betamethasone, tacrolimus and intravenous high-dose cyclophosphamide was initiated, and her skin symptoms and interstitial pneumonia improved once. However, right-sided chylothorax began to accumulate and gradually increase, and at the same time, her interstitial pneumonia began to exacerbate, and skin ulcers began to reappear on her fingers and auricles. Although her chylothorax improved by fasting and parenteral nutrition, she died due to further exacerbations of dermatomyositis and interstitial pneumonia in spite of steroid pulse therapy, increase in the betamethasone dosage, additional intravenous high-dose cyclophosphamide and plasma pheresis. An autopsy showed no lesions such as malignant tumors in the thoracic cavity. This is the first report of chylothorax complicated by dermatomyositis with interstitial pneumonia.

  18. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

    Science.gov (United States)

    Pereza, Nina; Severinski, Srećko; Ostojić, Saša; Volk, Marija; Maver, Aleš; Dekanić, Kristina Baraba; Kapović, Miljenko; Peterlin, Borut

    2015-06-01

    In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  19. Interstitial ectopic pregnancy: conservative surgical management.

    Science.gov (United States)

    Warda, Hussein; Mamik, Mamta M; Ashraf, Mohammad; Abuzeid, Mostafa I

    2014-01-01

    Interstitial pregnancy is a rare and life-threatening condition. Diagnosis and appropriate management are critical in preventing morbidity and death. Four cases of interstitial pregnancy are presented. Diagnostic laparoscopy followed by laparotomy and cornuostomy with removal of products of conception was performed in 1 case. Laparoscopic cornuostomy and removal of products of conception were performed in the subsequent 3 cases with some modifications of the technique. Subsequent successful reproductive outcomes are also presented. Progressively conservative surgical measures are being used to treat interstitial pregnancy successfully, with no negative impact on subsequent pregnancies.

  20. Pleuroparenchymal fibroelastosis: a rare interstitial lung disease

    Science.gov (United States)

    English, John C; Mayo, John R; Levy, Robert; Yee, John; Leslie, Kevin O

    2015-01-01

    Pleuroparenchymal fibroelastosis (PPFE) is a newly described form of interstitial lung disease that originates in the upper lung zones and typically progresses to involve the entire lung. The disease may be idiopathic but is often associated with other pre- or coexisting conditions. Pneumothorax is a common complication and can occur at presentation or at other times during the course of the disease. Pathologically, interstitial fibrosis takes the form of a dense consolidation with some preservation of alveolar septal outlines and demonstrates a distinctly abrupt interface with residual normal lung. Unrecognized cases of PPFE may be incorrectly diagnosed as sarcoidosis, atypical idiopathic pulmonary fibrosis, or other unclassifiable interstitial pneumonias. PMID:26090119

  1. HRCT of diffuse interstitial pneumonia during treatment

    International Nuclear Information System (INIS)

    Takahashi, Masashi; Sano, Akira; Imanaka, Kazufumi

    1989-01-01

    HRCT was carried out in twenty patients with diffuse interstitial pneumonia: 13 cases of IIP, 3 of BOOP, 2 of drug-induced pneumonia, 1 of rheumatoid lung and acute interstitial pneumonia of unknown origin. With special attention to inflammatory activity, the patients underwent HRCT periodically during the treatment. Correlative investigation between HRCT image and grade of accumulation in 67 Ga scintigraphy was also performed. Response to steroid therapy was clearly reflected on HRCT image, that was shown as decreasing pulmonary density or thinning of honeycomb wall. HRCT is considered to be useful in assessing the activity of diffuse interstitial pneumonia. (author)

  2. Electroexcitation of the Roper resonance for 1.7 < Q**2 < 4.5 -GeV2 in vec-ep ---> en pi+

    Energy Technology Data Exchange (ETDEWEB)

    Aznauryan, Inna; Burkert, Volker; Kim, Wooyoung; Park, Kil; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Ambrozewicz, Pawel; Anghinolfi, Marco; Asryan, Gegham; Avagyan, Harutyun; Bagdasaryan, H.; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Batourine, V.; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Boyarinov, Sergey; Bradford, Robert; Branford, Derek; Briscoe, Wilbert; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Donnelly, J.; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gabrielyan, Marianna; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Golovach, Evgeny; Gonenc, Atilla; Gordon, Christopher; Gothe, Ralf; Graham, L.; Griffioen, Keith; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hafnaoui, Khadija; Hakobyan, Hayk; Hakobyan, Rafael; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Klein, Andreas; Klein, Andreas; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lee, T.; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, Konstantin; MacCormick, Marion; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, S.; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, Jerome; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Polli, Ermanno; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, J.; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham

    2008-10-01

    DOI: http://dx.doi.org/10.1103/PhysRevC.78.045209
    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7 < Q2 < 4.5 GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for pi+ electroproduction on protons at W=1.15-1.69 GeV. The analysis is made using two approaches, dispersion relations and a unitary isobar model, which give consistent results. It is found that the transverse helicity amplitude A_{1/2} for the gamma* p -> N(1440)P11 transition, which is large and negative at Q2=0, becomes large and positive at Q2 ~ 2 GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S_{1/2}, which was previously found from CLAS ep -> eppi0,enpi+ data to be large and positive at Q2=0.4,0.65 GeV2, drops with Q2. Available model predictions for gamma* p -> N(1440)P11 allow us to conclude that these results provide strong evidence in favor of N(1440)P11 as a first radial excitation of

  3. Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

    Science.gov (United States)

    Yan, W L; Guan, X Y; Green, E D; Nicolson, R; Yap, T K; Zhang, J; Jacobsen, L K; Krasnewich, D M; Kumra, S; Lenane, M C; Gochman, P; Damschroder-Williams, P J; Esterling, L E; Long, R T; Martin, B M; Sidransky, E; Rapoport, J L; Ginns, E I

    2000-12-04

    Childhood-onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40-50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc.

  4. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2014-01-01

    Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

  5. A New Three-Way Translocation t(4;11;7(q21;q23;q22 in a Mixed-Phenotype Acute Leukemia

    Directory of Open Access Journals (Sweden)

    Hirotaka Takasaki

    2011-01-01

    Full Text Available A 68-year-old man was admitted to our hospital in September 2008 because of a left-sided chest pain. Bone marrow examination showed that 85.5% of leukemic cells were positive for myeloperoxidase (MPO and were negative for esterase stain. Flow cytometric analysis (FCM revealed the expression of CD19, CD79a, CD13, CD33, CD34, and HLA-DR on the blasts. Cytogenetic analysis of bone marrow cells using the G-banding technique demonstrated 47, XY, +X, t(4;11;7(q21;q23;q22 in five of the 20 analyzed cells. The patient was diagnosed as having mixed biphenotypic acute leukemia according to the European Group for Immunologic Classification of Leukemia criteria. Mixed-phenotype acute leukemia is a rare, difficult to diagnose entity. Whether patients with mixed-phenotype acute leukemia should be treated with regimens designed for acute myeloid leukemia, acute lymphoblastic leukemia, or both remains unclear.

  6. Brain and Behavior in Children with 22Q11.2 Deletion Syndrome: A Volumetric and Voxel-Based Morphometry MRI Study

    Science.gov (United States)

    Campbell, Linda E.; Daly, Eileen; Toal, Fiona; Stevens, Angela; Azuma, Rayna; Catani, Marco; Ng, Virginia; Van Amelsvoort, Therese; Chitnis, Xavier; Cutter, William; Murphy, Declan G. M.; Murphy, Kieran C.

    2006-01-01

    In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit hyperactivity disorder…

  7. The diffuse interstitial lung disease - with emphasis in the idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Bustillo P, Jose G; Pacheco, Pedro M; Matiz, Carlos; Ojeda, Paulina; Carrillo B, Jorge A.

    2003-01-01

    The term diffuse interstitial lung disease, it refers to those diseases that commit the interstice basically, the space between the membrane basal epithelial and endothelial, although the damage can also commit the outlying air spaces and the vessels; the supplement is centered in the diffuse interstitial lung illness of unknown cause; well-known as idiopathic interstitial pneumonias, making emphasis in the more frequents, the pulmonary fibrosis idiopathic or cryptogenic fibrosant alveolitis

  8. Interstitial Metabolic Monitoring During Hemorrhagic Shock

    National Research Council Canada - National Science Library

    Pamnani, Motilal

    2003-01-01

    .... We hypothesize that decompensation results from potassium-mediated vasodilation and/or loss of cardiac contractility, and thus a method of measuring interstitial potassium should be a crucial part...

  9. Interstitial Metabolic Monitoring During Hemorrhagic Shock

    National Research Council Canada - National Science Library

    Pamnani, Motilal

    2004-01-01

    .... We hypothesize that decompensation results from potassium-mediated vasodilation and/or loss of cardiac contractility, and thus a method of measuring interstitial potassium should be a crucial part...

  10. INTERSTITIAL ECTOPIC PREGNANCY-A REVIEW

    OpenAIRE

    Fateme parooei1, Mahmood Anbari2, Morteza Salarzaei

    2017-01-01

    Introduction:. Interstitial ectopic pregnancy, in which rupture occurs much later than other forms of pregnancy, is a rare phenomenon that occurs in 2% of ectopic pregnancies; delayed rupture is due to the expandability of myometrium. Methods: In this review article, the databases Medline, Cochrane, Science Direct, and Google Scholar were thoroughly searched to identify the Interstitial ectopic pregnancy. In this review, the papers published until early January 2017 that were conducted ...

  11. Treatment Approaches for Interstitial Cystitis: Multimodality Therapy

    Science.gov (United States)

    Evans, Robert J

    2002-01-01

    Interstitial cystitis is an increasingly common disease characterized by urgency, frequency, and pelvic pain. Its etiology is poorly understood but is likely to be multifactorial. A proposed pathophysiology describing a cascade of events, including epithelial dysfunction, mast cell activation, and neurogenic inflammation, is presented. Using this model, multimodality therapy regimens have been developed that treat all components of this cascade. Multimodality therapy appears more effective than single agents in the treatment of interstitial cystitis. PMID:16986029

  12. Interstitial Cystitis: Chronic Pelvic Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Fatih Atuğ

    2005-01-01

    Full Text Available Interstitial cystitis, is a chronic inflammatory disease of the bladder of unknown etiology characterized by urinary frequency, urgency, nocturia and suprapubic pain. The syndrome presents differently in many patients, with the unifying factor being chronic pelvic pain and disruption of daily life activities.Although there are abundance of theories, the etiology of the condition remains unclear. This review focuses on recently published literature on the epidemiology, etiology, diagnosis and treatment of interstitial cystitis.

  13. Interstitial Metabolic Monitoring During Hemorrhagic Shock

    Science.gov (United States)

    2005-11-01

    Mass Spectometry (ICP- MS) ATACCC St. Pete Beach, FL 15 Apr 03 Microdialysis (µD) Measurement Of Interstitial Markers of Hemorrhagic Shock...Jackson Foundation Rockville, MD 20852-1428 REPORT DATE : November 2005 TYPE OF REPORT: Final PREPARED FOR... DATE (DD-MM-YYYY) 01-11-2005 2. REPORT TYPE Final 3. DATES COVERED (From - To) 15 MAR 2004 - 14 OCT 2006 4. TITLE AND SUBTITLE Interstitial Metabolic

  14. Interstitial lung diseases in children

    Directory of Open Access Journals (Sweden)

    Clement Annick

    2010-08-01

    Full Text Available Abstract Interstitial lung disease (ILD in infants and children comprises a large spectrum of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. These disorders are characterized by inflammatory and fibrotic changes that affect alveolar walls. Typical features of ILD include dyspnea, diffuse infiltrates on chest radiographs, and abnormal pulmonary function tests with restrictive ventilatory defect and/or impaired gas exchange. Many pathological situations can impair gas exchange and, therefore, may contribute to progressive lung damage and ILD. Consequently, diagnosis approach needs to be structured with a clinical evaluation requiring a careful history paying attention to exposures and systemic diseases. Several classifications for ILD have been proposed but none is entirely satisfactory especially in children. The present article reviews current concepts of pathophysiological mechanisms, etiology and diagnostic approaches, as well as therapeutic strategies. The following diagnostic grouping is used to discuss the various causes of pediatric ILD: 1 exposure-related ILD; 2 systemic disease-associated ILD; 3 alveolar structure disorder-associated ILD; and 4 ILD specific to infancy. Therapeutic options include mainly anti-inflammatory, immunosuppressive, and/or anti-fibrotic drugs. The outcome is highly variable with a mortality rate around 15%. An overall favorable response to corticosteroid therapy is observed in around 50% of cases, often associated with sequelae such as limited exercise tolerance or the need for long-term oxygen therapy.

  15. Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.

    Science.gov (United States)

    Petersen, Andrea Klunder; Ahmad, Ausaf; Shafiq, Mustafa; Brown-Kipphut, Brigette; Fong, Chin-To; Anwar Iqbal, M

    2013-02-01

    Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43-q44. We report on a 3 ½ year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 kb at 1q43 region (239,412,391-239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient's specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43-q44 deletions. Copyright © 2013. Published by Elsevier Masson SAS.

  16. Deletions of the mitochondrial genome.

    Science.gov (United States)

    Harding, A E; Hammans, S R

    1992-01-01

    Single large deletions of mitochondrial DNA are found in the muscle of about 40% of patients with mitochondrial myopathies, and are detectable in both blood and muscle in Pearson syndrome. In mitochondrial myopathies, there is a close association between the presence of deletions and involvement of extra-ocular muscles, together with other features of the Kearns-Sayre syndrome. Deletions appear to arise as fresh mutations in the vast majority of patients and are often flanked by direct repeats up to 13 nucleotides in length. They should affect translation of all mitochondrially encoded components of the respiratory chain, but there is evidence to suggest that intramitochondrial complementation occurs in some cases.

  17. Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

    Science.gov (United States)

    Perche, Olivier; Menuet, Arnaud; Marcos, Mélanie; Liu, Luyan; Pâris, Arnaud; Utami, Kagistia H; Kervran, Dominique; Cacheux, Valere; Laudier, Béatrice; Briault, Sylvain

    2013-11-01

    7qter deletion syndrome includes prenatal and/or postnatal growth retardation, microcephaly, psychomotor delay or mental retardation and a characteristic dysmorphism. If clinical features are well described, the molecular mechanisms underlying the 7qter deletion syndrome remain unknown. Those deletions usually arise de novo. Here, we describe a young boy with an abnormal phenotype consistent with a 7qter deletion syndrome. High resolution genomic analysis (Affymetrix Human Genome Wide SNP 6.0) revealed a 7q36.3 deletion encompassing NCAPG2, ESYT2, WDR60 and VIPR2, inherited from his asymptomatic father and paternal grandfather. In addition, the patient also harbored a MCPH1 deletion inherited from his healthy mother. Combined NCAPG2 and MCPH1 deletions were correlated with low mRNA levels and protein expression in the patient. MCPH1 and NCAPG2 proteins interaction is known to control chromosome structure and we thus propose that double heterozygosity for null mutations of those two genes of the Condensin II system contribute to mental deficiency with severe microcephaly phenotype. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  18. How does interstitial cystitis begin?

    Science.gov (United States)

    Parsons, C Lowell

    2015-12-01

    Interstitial cystitis (IC) does not start as an endstage disease, it has a beginning when symptoms are milder, intermittent and the disease is misdiagnosed. To determine how IC develops patients were interviewed on when their symptoms began, what they were and are now as well as the various diagnoses that they received before they were determined to have IC. One hundred female IC patients were screened. They filled out a questionnaire asking about the age their disease presented, their initial and current symptoms, what their original diagnoses were, effect of the menstrual cycle and sexual activity on their symptoms and about any relatives with bladder symptoms or a current diagnosis of IC. By age 30, 81% of patients had bladder symptoms, 21% before age 10. The first symptom was frequency in 81%, pain present in 59% and the symptoms were intermittent in 64%. Most common early misdiagnosis was UTI in 74% with 93% reporting negative urine cultures. Sex was painful and causes symptom flares in 82%, symptoms flared the week before the menses in 75%. Most common gynecologic diagnosis was yeast vaginitis, 42%. Urge incontinence was present in 33%. There were 51% that reported bladder symptoms in a first degree female relative. IC begins primarily with frequency and is intermittent in most patients with symptom flares associated with sexual activity. Pain and urgency incontinence tend to be a later symptoms. When IC flares the most common misdiagnosis is UTI. Symptoms begin before age 30 in most but an IC diagnosis is often not made until age 40. Genetics appear to play a significant role. It is important to consider these facts when evaluating women with "early IC" because correct diagnosis will result in proper therapy and reduced health care costs.

  19. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion : narrowing the critical region for Prader-Willi-like phenotype

    NARCIS (Netherlands)

    Bonaglia, Maria Clara; Ciccone, Roberto; Gimelli, Giorgio; Gimelli, Stefania; Marelli, Susan; Verheij, Joke; Giorda, Roberto; Grasso, Rita; Borgatti, Renato; Pagone, Filomena; Rodriguez, Laura; Martinez-Frias, Maria-Luisa; van Ravenswaaij, Conny; Zuffardi, Orsetta

    2008-01-01

    Most patients with an interstitial deletion of 6q16 have Prader-Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the chromosome rearrangement was detected by karyotype analysis, which provides an overview of the entire genome

  20. Synoviolin inhibitor LS-102 reduces endoplasmic reticulum stress-induced collagen secretion in an in vitro model of stress-related interstitial pneumonia.

    Science.gov (United States)

    Nakajima, Fukami; Aratani, Satoko; Fujita, Hidetoshi; Yagishita, Naoko; Ichinose, Shizuko; Makita, Koshi; Setoguchi, Yasuhiro; Nakajima, Toshihiro

    2015-01-01

    The deletion mutation of exon 4 in surfactant protein C (SP-C), a lung surfactant protein, has been identified in parent-child cases of familial interstitial pneumonia. It has been shown that this mutation induces endoplasmic reticulum (ER) stress. Synoviolin is an E3 ubiquitin ligase that is localized to the ER and is an important factor in the degradation of ER-related proteins. It has been demonstrated that synoviolin is involved in liver fibrosis. In the present study, we investigated the involvement of synoviolin in the pathogenesis of interstitial pneumonia caused by the exon 4 deletion in the SP-C gene. We transfected wild-type and exon 4-deleted SP-C genes into A549 human lung adenocarcinoma cells and measured the secretion of collagen, which is a representative extracellular matrix protein involved in fibrosis. Secreted collagen levels were increased in the culture medium in SP-C mutants compared to the wild-type cells. Furthermore, the transcription of mRNAs coding for factors associated with fibrosis was increased. Subsequently, to assess the involvement of synoviolin, we constructed plasmids with a luciferase gene under the control of the synoviolin promoter. The A549 cells were transfected with the construct along with the exon 4-deleted SP-C plasmid for use in the luciferase assay. We found a 1.6-fold increase in luciferase activity in the cells carrying exon 4 deleted SP-C, as well as an increase in intrinsic synoviolin expression at the mRNA and protein levels. Collagen secretion was decreased by the addition of LS-102, a synoviolin inhibitor, to the A549 culture medium following transfection with wild-type and exon 4-deleted SP-C. These results demonstrate that synoviolin is involved in the onset of interstitial pneumonia induced by exon 4-deleted SP-C, which suggests that synoviolin inhibitors may be used in the treatment of the disease.

  1. 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

    Directory of Open Access Journals (Sweden)

    Ana Belén de la Hoz

    2015-01-01

    Full Text Available To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.

  2. [Modern Views on Children's Interstitial Lung Disease].

    Science.gov (United States)

    Boĭtsova, E V; Beliashova, M A; Ovsiannikov, D Iu

    2015-01-01

    Interstitial lung diseases (ILD, diffuse lung diseases) are a heterogeneous group of diseases in which a pathological process primarily involved alveoli and perialveolar interstitium, resulting in impaired gas exchange, restrictive changes of lung ventilation function and diffuse interstitial changes detectable by X-ray. Children's interstitial lung diseases is an topical problem ofpediatricpulmonoogy. The article presents current information about classification, epidemiology, clinical presentation, diagnostics, treatment and prognosis of these rare diseases. The article describes the differences in the structure, pathogenesis, detection of various histological changes in children's ILD compared with adult patients with ILD. Authors cite an instance of registers pediatric patients with ILD. The clinical semiotics of ILD, the possible results of objective research, the frequency of symptoms, the features of medical history, the changes detected on chest X-rays, CT semiotics described in detail. Particular attention was paid to interstitial lung diseases, occurring mainly in newborns and children during the first two years of life, such as congenital deficiencies of surfactant proteins, neuroendocrine cell hyperplasia of infancy, pulmonary interstitial glycogenosis. The diagnostic program for children's ILD, therapy options are presented in this article.

  3. Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

    Science.gov (United States)

    Peter, Beate; Lancaster, Hope; Vose, Caitlin; Fares, Amna; Schrauwen, Isabelle; Huentelman, Matthew

    2017-10-01

    Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date. Both children have hypotonia, motor speech disorders, and expressive language delays. Patient 1's speech was characterized by childhood apraxia of speech (CAS) and dysarthria. Other findings include developmental delay, ataxic cerebral palsy, optic nerve dysplagia, and atypical brain morphologies regarding the corpus callosum and gyration patterns, a clinical profile that closely matches a previously reported case with a nearly identical deletion. Patient 2 had speech characterized by CAS and typical nonverbal processing abilities. His father, a carrier, had typical speech and language but showed difficulties with complex motor speech and hand motor tasks, similar to other adults with residual signs of CAS. The small deletion in this family contains the IGF2R-AIRN-SLC22A2-SLC22A3 gene cluster, which is associated with imprinting and maternal-specific expression of Igf2R, Slc22a2, and Slc22a3 in mice, whereas imprinting in humans is a polymorphic trait. The shared phenotypes in the two patients might be associated with the deletion of the gene cluster. © 2017 Wiley Periodicals, Inc.

  4. Idiopathic interstitial pneumonias: radiologic-pathologic correlation

    International Nuclear Information System (INIS)

    Yoon, Young Cheol; Suh, Gee Young; Han, Joung Ho; Lee, Kyung Soo

    2002-01-01

    Idiopathic interstitial pneumonias are at present classified as one of four types: usual, nonspecific, acute, or desquamative. The acute form has the worst prognosis, followed by the usual and the nonspecific form; it is in desquamative cases that prognosis is best. At high-resolution CT, usual interstitial pneumonia, the most frequent type, manifests as patchy subpleural areas of ground-glass attenuation, irregular linear opacity, and honeycombing, which the nonspecific type, the second most frequent, appears as subpleural patchy areas of ground-glass attenuation with associated areas of irregular linear opacity. Acute interstitial pneumonia demonstrates extensive bilateral airspace consolidation and patchy or diffuse bilateral areas of ground-glass attenuation in middle and lower lung zones

  5. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

    International Nuclear Information System (INIS)

    Nussbaum, R.L.; Lesko, J.G.; Lewis, R.A.; Ledbetter, S.A.; Ledbetter, D.H.

    1987-01-01

    Choroideremia, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central blindness in affected males by the third to fourth decade of life. Choroideremia has been mapped to Xq13-21 by tight linkage to restriction fragment length polymorphism loci. The authors have recently identified two families in which choroideremia is inherited with mental retardation and deafness. In family XL-62, an interstitial deletion Xq21 is visible by cytogenetic analysis and two linked anonymous DNA markers, DXYS1 and DXS72, are deleted. In the second family, XL-45, an interstitial deletion was suspected on phenotypic grounds but could not be confirmed by high-resolution cytogenetic analysis. They used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. Two of the first 83 sequences characterized from the library were found to be deleted in probands from family XL-45 as well as from family XL-62. Isolation of these sequences proves that XL-45 does contain a submicroscopic deletion and provides a starting point for identifying overlapping genomic sequences that span the XL-45 deletion. Each overlapping sequence will be studied to identify exons from the choroideremia locus

  6. Strategies for state-dependent quantum deleting

    International Nuclear Information System (INIS)

    Song Wei; Yang Ming; Cao Zhuoliang

    2004-01-01

    A quantum state-dependent quantum deleting machine is constructed. We obtain a upper bound of the global fidelity on N-to-M quantum deleting from a set of K non-orthogonal states. Quantum networks are constructed for the above state-dependent quantum deleting machine when K=2. Our deleting protocol only involves a unitary interaction among the initial copies, with no ancilla. We also present some analogies between quantum cloning and deleting

  7. [Diagnosis and treatment of interstitial cystitis].

    Science.gov (United States)

    Meyer, D; Gregorin, J; Schmid, H-P

    2011-02-16

    Interstitial Cystitis, first described in 1887 as an inflammatory disease of the bladder wall, is now regarded as a very common disease with an estimated number of unreported cases. Reasons for underdiagnosis is the widespread use of strict exclusion criteria. The disease can already be suspected by a careful medical history and physical examination in an early stage and then be treated with promising multimodal therapeutic approaches. In addition to a symptomatic oral therapy, local instillations with constituents of the protective glycosaminoglycan-layer are the most common therapeutic approach, because its defective integrity plays a key role in the pathogenesis of interstitial cystitis.

  8. Radionuclide diagnosis of interstitial lung edema

    International Nuclear Information System (INIS)

    Khodzhibekov, M.Kh.

    1991-01-01

    Perfusion scintigraphy of the lungs has shown that a reverse direction of postural reactions of the pulmonary blood flow is observed in patients with mitral valvular disease. It is accounted for by the action of gravitation on capillary hydrostatic pressure resulting in the localization of interstitial edema in pulmonary venous hypertension mainly in the lower lung, its microcirculatory bed being compressed and the blood flow redistributed to the opposite upper lung. Therefore successive perfusion scintigraphy of the lungs in the vertical position and in the lateral position with a RP administered twice, can serve as a sensitive test for diagnosis of interstitial lung edema

  9. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Juyal, R.C.; Figuera, L.E.; Hauge, X. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1996-05-01

    Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (1) FISH analysis, (2) PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosome 17 from selected patients, and (3) genotype determination of patients for whom a parent(s) was available at four microsatellite marker loci and at four loci with associated RFLPs. The relative order of two novel anonymous markers and a new microsatellite marker was determined in 17p11.2. The results confirmed that the proximal deletion breakpoint in the majority of SMS patients is located between markers D17S58 (EW301) and D17S446 (FG1) within the 17p11.1-17p11.2 region. The common distal breakpoint was mapped between markers cCI17-638, which lies distal to D17S71, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus. The locus D17S258 was found to be deleted in all 62 patients, and probes from this region can be used for diagnosis of the SMS deletion by FISH. Ten patients demonstrated molecularly distinct deletions; of these, two patients had smaller deletions and will enable the definition of the critical interval for SMS. 49 refs.

  10. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

    Science.gov (United States)

    Rocca, Maria Santa; Faletra, Flavio; Devescovi, Raffaella; Gasparini, Paolo; Pecile, Vanna

    2013-01-01

    Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  11. Mortality following unilateral twin interstitial ectopic pregnancy. A case report.

    Science.gov (United States)

    Jackson, G M; Rubin, S M; Sondheimer, S J

    1992-10-01

    Twin ectopic pregnancy is an uncommon event, usually occurring as simultaneous intrauterine and tubal gestations. Interstitial implantation of an ectopic pregnancy is also a rare event, associated with a high mortality rate. Twin interstitial pregnancy has been previously reported only three times in the English literature. We report a recent case of unilateral twin interstitial ectopic pregnancy that resulted in maternal death and review the literature with regard to both ectopic pregnancy and factors associated with mortality from interstitial implantation.

  12. Interstitial Ectopic Pregnancy Report of Four Cases

    Directory of Open Access Journals (Sweden)

    Bülent Kars

    2009-12-01

    Interstitial pregnancy is a rare form of ectopic pregnancy which carries a higher risk of morbidity and mortality due to catastrophic hemorrhage. Early diagnosis is mandatory for management of this potentially fatal condition and a high index of suspicion is essential for early diagnosis.

  13. Rituximab-induced interstitial lung disease

    DEFF Research Database (Denmark)

    Naqibullah, Matiuallah; Shaker, Saher B; Bach, Karen S

    2015-01-01

    , rheumatoid arthritis, and autoimmune hemolytic anemia. Recently, RTX has also been suggested for the treatment of certain connective tissue disease-related interstitial lung diseases (ILD) and hypersensitivity pneumonitis. Rare but serious pulmonary adverse reactions are reported. To raise awareness about...

  14. Interstitial cystitis/painful bladder syndrome.

    Science.gov (United States)

    French, Linda M; Bhambore, Neelam

    2011-05-15

    Interstitial cystitis/painful bladder syndrome affects more than 1 million persons in the United States, but the cause remains unknown. Most patients with interstitial cystitis/painful bladder syndrome are women with symptoms of suprapubic pelvic and/or genital area pain, dyspareunia, urinary urgency and frequency, and nocturia. It is important to exclude other conditions such as infections. Tests and tools commonly used to diagnose interstitial cystitis/painful bladder syndrome include specific questionnaires developed to assess the condition, the potassium sensitivity test, the anesthetic bladder challenge, and cystoscopy with hydrodistension. Treatment options include oral medications, intravesical instillations, and dietary changes and supplements. Oral medications include pentosan polysulfate sodium, antihistamines, tricyclic antidepressants, and immune modulators. Intravesical medications include dimethyl sulfoxide, pentosan polysulfate sodium, and heparin. Pentosan polysulfate sodium is the only oral therapy and dimethyl sulfoxide is the only intravesical therapy with U.S. Food and Drug Administration approval for the treatment of interstitial cystitis/painful bladder syndrome. To date, clinical trials of individual therapies have been limited in size, quality, and duration of follow-up. Studies of combination or multimodal therapies are lacking.

  15. Interstitial laser thermotherapy in neurosurgery: a review

    NARCIS (Netherlands)

    Menovsky, T.; Beek, J. F.; van Gemert, M. J.; Roux, F. X.; Bown, S. G.

    1996-01-01

    One of the most recent laser treatment modalities in neurosurgery is interstitial laser thermotherapy (ILTT). In this review, experimental and clinical studies concerning intracranial ILTT are discussed. Two methods for intra-operative control of the laser induced lesions are described; i.e.,

  16. Desquamative interstitial pneumonia: A case report

    Directory of Open Access Journals (Sweden)

    Lovrenski Aleksandra

    2014-01-01

    Full Text Available Introduction. Desquamative interstitial pneumonia is one of the rarest idiopathic interstitial pneumonias and the rarest form of smoking-related interstitial lung diseases. It was first described by Liebow in 1965. Histologically, it is characterized by the presence of eosinophilic macrophages uniformly filling airspaces which often contain a finely granular light-brown pigment that does not stain for hemosiderin. The alveolar walls are usually mildly thickened by fibrous tissue and infiltrated by a moderate number of lymphocytes. Case Outline. Our patient was a 56-year-old male, heavy smoker, with bilateral lung infiltrations of unknown etiology and several months of discomfort in the form of dry cough and shortness of breath. Lung function tests showed a moderate restrictive ventilation disorder and a severe reduction of diffusing capacity. Since bronchoscopic specimens did not reveal lung lesion etiology, an open lung biopsy of the lower left pulmonary lobe was performed, and based on the obtained surgical material the pathohistologically diagnosis of desquamative interstitial pneumonia was established. The patient was started on corticosteroid and immunosuppressive therapy, and he ceased smoking. At the last control examination, two years after the onset of symptoms, the patient was feeling well, and high-resolution computed tomography (HRCT scan of the thorax showed regression of pathological changes. Conclusion. Although, as in our case, the majority of DIP patients improve on treatment, some patients still develop progressive irreversible fibrosis despite therapy.

  17. Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W; Belasco, Jean B; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H; McDonald-McGinn, Donna M

    2018-02-12

    Lymphedema is an abnormal accumulation of interstitial fluid within the tissues. Primary lymphedema is caused by aberrant lymphangiogenesis and it has been historically classified based on age at presentation. Although most cases are sporadic, primary lymphedema may be familial or present in association with chromosomal abnormalities and syndromic disorders. To the best of our knowledge, primary lymphedema has never been described in patients with 22q11.2 deletion syndrome. We identified 4 patients with 22q11.2 deletion syndrome and primary lymphedema via our International 22q11.2 Deletion Syndrome Consortium. All patients underwent comprehensive clinical, laboratory and imaging assessments to rule out other causes of lymphedema. All patients had de novo typical deletions and family histories were negative for lymphedema. We report the novel association of primary lymphedema with 22q11.2 deletion syndrome. Importantly, animal models demonstrated Tbx1 playing a critical role in lymphangiogenesis by reducing Vegfr3 expression in lymphatic endothelial cells. Moreover, the VEGFR3 pathway is essential for lymphangiogenesis with mutations identified in hereditary primary lymphedema. Accordingly, our findings provide a new insight into understanding cellular mechanisms of lymphangiogenesis disorders. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  18. [Interstitial pregnancy: experience at Rouen's hospital].

    Science.gov (United States)

    Douysset, X; Verspyck, E; Diguet, A; Marpeau, L; Chanavaz-Lacheray, I; Rondeau, S; Resch, B; Sergent, F

    2014-04-01

    Presenting our experience concerning interstitial pregnancies (IP) surgical management and to evaluate our patients' subsequent long-term fertility. Twenty patients underwent surgical treatment of IP in our department over 15 years. In this retrospective study, we present symptoms that led to diagnosis, treatments, fertility and obstetrical outcome. Mean gestational age at diagnosis was 8SA, with a median BHCG rate of 7411 IU/L, and a patient mean age of 30 years. Ninety percent of patients had at least one risk factor for ectopic pregnancy. Pain or bleeding were the most common symptoms at admission, 4 patients were admitted in an hypovolemic shock status. Location of the interstitial ectopic pregnancy was discovered during surgery in 45 % of cases. Six patients had a large hemoperitoneum bigger than 1L, 5 patients had an IP of uterine stump after salpingectomy for a previous ectopic pregnancy. The most used surgical technique was in 60 % of cases the excision by Endo GIA stapling(®) with salpingectomy. Regarding fertility, 12 patients wished pregnancy in the aftermath of the intervention, 10 had at least one pregnancy, among them there is an ectopic contralateral ampullary pregnancy, and a contralateral recurrence of interstitial pregnancy. Four patients were delivered by cesarean section and 4 patients were delivered vaginally, some several times. No uterine rupture occured. Interstitial pregnancy is a rare ectopic pregnancy. Its diagnosis is difficult and may involve maternal life-threatening and fertility. In subsequent pregnancies, the clinician has to be careful concerning the risks of interstitial pregnancy recurrence and uterine rupture. Copyright © 2013. Published by Elsevier SAS.

  19. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

    Science.gov (United States)

    Koczkowska, Magdalena; Wierzba, Jolanta; Śmigiel, Robert; Sąsiadek, Maria; Cabała, Magdalena; Ślężak, Ryszard; Iliszko, Mariola; Kardaś, Iwona; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    2017-02-01

    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.

  20. 76 FR 9555 - Procurement List; Proposed Deletions

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    2011-02-18

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Proposed Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed deletions from the Procurement...'Day Act (41 U.S.C. 46- 48c) in connection with the products proposed for deletion from the Procurement...

  1. 78 FR 56679 - Procurement List; Deletions

    Science.gov (United States)

    2013-09-13

    ... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Deletions from the Procurement List. SUMMARY: This action deletes products from the Procurement List previously furnished by nonprofit agencies employing...

  2. Environmental injury to the kidney: Interstitial nephritis

    Directory of Open Access Journals (Sweden)

    James C. Chan

    2014-10-01

    Full Text Available The First Emperor of China (Qin Shi Huang: 259–210 BCE would have been interested in interstitial nephritis. He might conceivably be fascinated to know that consumption of mercury elixir, instead of giving him immortality, might have shortened his life by giving him interstitial nephritis. In the Balkan region of Eastern Europe, clustering of a peculiar interstitial nephritis is prevalent. One environmental risk contributing to Balkan endemic nephritis is aristolochic acid contamination of cooking flour, drinking water, and herbal medicine. In addition, the popular use of nonprescription Chinese weight reduction herbs and public unawareness of the consequential aristolochic acid nephropathy has become a worldwide problem. Finally, the mighty Romans of antiquity lost their empire, arguably due to lead in their wine containers, lead water pipes, and lead cooking utensils. In modern times, lead paint has become universally banned, which has resulted in a reduction of lead-induced interstitial nephritis. In recent decades, bisphenol A (BPA has been identified as a new environmental risk. BPA is in the plastic coating of food and beverage containers to prevent corrosion. BPA is so ubiquitous that urinary BPA and proteinuria are present in a high percentage of the population. BPA-induced kidney injury and other health concerns have led certain countries to ban BPA. Now, BPA-free containers are being introduced with great fanfare by manufacturers, but safety issues on all plastic products remain. It begs the question whether “plastics” of today take the place of “lead” in ancient Rome. This is a challenging question without an answer at this point.

  3. Chronic interstitial lung disease in children.

    Science.gov (United States)

    Griese, Matthias

    2018-03-31

    Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development.This brief review highlights publications in the field of paediatric interstitial lung disease as reviewed during the Clinical Year in Review session presented at the 2017 European Respiratory Society (ERS) Annual Congress in Milan, Italy. It was commissioned by the ERS and critically presents progress made as well as drawbacks. Copyright ©ERS 2018.

  4. Self-interstitial atoms in metals

    International Nuclear Information System (INIS)

    Schilling, W.

    1978-01-01

    The present state of knowledge and understanding of the properties of self-interstitial atoms (SIAs) in metals is reviewed. Special emphasis is given to a discussion of the structure of SIAs and those properties which relate to structure such as relaxation volumes, elastic polarizabilities, defect vibrations, geometry of jump processes, and elastic interactions. The present experimental status with respect to these properties is summarized, and the basic theoretical concepts for their understanding are presented as simply as possible. (Auth.)

  5. Chronic interstitial lung disease in children

    Directory of Open Access Journals (Sweden)

    Matthias Griese

    2018-02-01

    Full Text Available Children's interstitial lung diseases (chILD are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development. This brief review highlights publications in the field of paediatric interstitial lung disease as reviewed during the Clinical Year in Review session presented at the 2017 European Respiratory Society (ERS Annual Congress in Milan, Italy. It was commissioned by the ERS and critically presents progress made as well as drawbacks.

  6. Temperature control in interstitial laser cancer immunotherapy

    Science.gov (United States)

    Bandyopadhyay, Pradip K.; Holmes, Kyland; Burnett, Corinthius; Zharov, Vladimir P.

    2003-07-01

    Positive results of Laser-Assisted Cancer Immunotherapy (LACI) have been reported previously in the irradiation of superficial tumors. This paper reports the effect of LACI using laser interstitial therapy approach. We hypothesize that the maximum immuno response depends on laser induced tumor temperature. The measurement of tumor temperature is crucial to ensure necrosis by thermal damage and immuno response. Wister Furth female rats in this study were inoculated with 13762 MAT B III rat mammary adinocarcinoma. LACI started seven to ten days following inoculation. Contrary to surface irradation, we applied laser interstitial irradiation of tumor volume to maximize the energy deposition. A diode laser with a wavelength of 805 nm was used for tumor irradiation. The laser energy was delivered inside the tumor through a quartz fiber. Tumor temperature was measured with a micro thermocouple (interstitial), while the tumor surface temperature was controlled with an IR detector. The temperature feedback demonstrates that it is possible to maintain the average tumor temperature at the same level with reasonable accuracy in the desired range from 65°C-85°C. In some experiments we used microwave thermometry to control average temperature in deep tissue for considerable period of time, to cause maximum thermal damage to the tumor. The experimental set-up and the different temperature measurement techniques are reported in detail, including the advantages and disadvantages for each method.

  7. Respiratory muscle function in interstitial lung disease.

    Science.gov (United States)

    Walterspacher, Stephan; Schlager, Daniel; Walker, David J; Müller-Quernheim, Joachim; Windisch, Wolfram; Kabitz, Hans-Joachim

    2013-07-01

    Interstitial lung diseases limit daily activities, impair quality of life and result in (exertional) dyspnoea. This has mainly been attributed to a decline in lung function and impaired gas exchange. However, the contribution of respiratory muscle dysfunction to these limitations remains to be conclusively investigated. Interstitial lung disease patients and matched controls performed body plethysmography, a standardised 6-min walk test, volitional tests (respiratory drive (P0.1), global maximal inspiratory mouth occlusion pressure (PImax), sniff nasal pressure (SnPna) and inspiratory muscle load) and nonvolitional tests on respiratory muscle function and strength (twitch mouth and transdiaphragmatic pressure during bilateral magnetic phrenic nerve stimulation (TwPmo and TwPdi)). 25 patients and 24 controls were included in the study. PImax and SnPna remained unaltered (both p>0.05), whereas P0.1 and the load on the inspiratory muscles were higher (both prespiratory muscle strength remains preserved. Central respiratory drive and the load imposed on the inspiratory muscles are increased. Whether impaired respiratory muscle function impacts morbidity and mortality in interstitial lung disease patients needs to be investigated in future studies.

  8. Role of interstitial implantation in gynecological cancer

    International Nuclear Information System (INIS)

    Nori, D.; Hilaris, B.S.

    1987-01-01

    Recurrent cancer at any site carries a gloomy prognosis. Cancer of the cervix that recurs after radical surgery or curative radiation therapy is a perplexing problem confronting both gynecological and radiation oncologists. In the authors' series, 45% of the patients survived disease-free at 1 year and 10% survived without disease at 5 years or longer following interstitial implantation for recurrent cervical cancer. The optimal utilization of this procedure seems to depend on the site of recurrence, the extent of the disease in the pelvis, and the status of para-aortic node involvement. This retrospective analysis enabled the authors to identify the prognostic factors. The most favorable group benefited by this technique were those who presented with either central recurrence or unilateral, localized pelvic side wall recurrent disease. The least morbidity was noticed in those patients with minimal surgical manipulations at the time of the interstitial implantation. The authors recommended that only a limited and essential surgical procedure should accompany interstitial implantation, since the associated morbidity and mortality is high and survival brief

  9. Interstitial lung involvement in rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    David Vladimirovich Bestaev

    2014-01-01

    Full Text Available Rheumatoid arthritis (RA is a systemic autoimmune rheumatic disease of unknown etiology, characterized by chronic erosive arthritis and extraarticular manifestations. Pulmonary involvement is one of the common extraarticular manifestations of RA and may show itself as bronchial tree lesions, rheumatoid nodules, Caplan's syndrome, and lesions in the pleura or pulmonary interstitium (interstitial lung involvement (ILI. High-resolution computed tomography allows the diagnosis of ILI in RA in nearly 70% of cases although the incidence of ILI may be lower (4 to 30% depending on diagnostic methods and patient selection criteria. There are several histopathological types of ILI, the differential diagnosis of which can be troublesome. Usual interstitial pneumonia (UIP and nonspecific interstitial pneumonia are major types of RA-associated ILI. UIP-pattern ILI has a more severe course than ILI with other histological patterns. The clinical presentation of ILI may be complicated by the likely toxic effect of a number of disease-modifying antirheumatic drugs (DMARDs used to treat RA, such as methotrexate and leflunomide, and biological agents (BAs, tumor necrosis factor-α (TNF-α inhibitors. The pathogenesis of pulmonary involvement in RA and the role of synthetic DMARDs and BAs in the development of ILI call for further investigations.An extraarticular manifestation, such as ILI, affects the choice of treatment policy in patients with RA.The relevance of a study of ILI is beyond question. The paper discusses the state-of-the-art of investigations in this area.

  10. Interstitial prostate brachytherapy. LDR-PDR-HDR

    International Nuclear Information System (INIS)

    Kovacs, Gyoergy; Hoskin, Peter

    2013-01-01

    The first comprehensive overview of interstitial brachytherapy for the management of local or locally advanced prostate cancer. Written by an interdisciplinary team who have been responsible for the successful GEC-ESTRO/EAU Teaching Course. Discusses in detail patient selection, the results of different methods, the role of imaging, and medical physics issues. Prostate brachytherapy has been the subject of heated debate among surgeons and the proponents of the various brachytherapy methods. This very first interdisciplinary book on the subject provides a comprehensive overview of innovations in low dose rate (LDR), high dose rate (HDR), and pulsed dose rate (PDR) interstitial brachytherapy for the management of local or locally advanced prostate cancer. In addition to detailed chapters on patient selection and the use of imaging in diagnostics, treatment guidance, and implantation control, background chapters are included on related medical physics issues such as treatment planning and quality assurance. The results obtained with the different treatment options and the difficult task of salvage treatment are fully discussed. All chapters have been written by internationally recognized experts in their fields who for more than a decade have formed the teaching staff responsible for the successful GEC-ESTRO/EAU Prostate Brachytherapy Teaching Course. This book will be invaluable in informing residents and others of the scientific background and potential of modern prostate brachytherapy. It will also prove a useful source of up-to-date information for those who specialize in prostate brachytherapy or intend to start an interstitial brachytherapy service.

  11. Experimental depletion of different renal interstitial cell populations

    International Nuclear Information System (INIS)

    Bohman, S.O.; Sundelin, B.; Forsum, U.; Tribukait, B.

    1988-01-01

    To define different populations of renal interstitial cells and investigate some aspects of their function, we studied the kidneys of normal rats and rats with hereditary diabetes insipidus (DI, Brattleboro) after experimental manipulations expected to alter the number of interstitial cells. DI rats showed an almost complete loss of interstitial cells in their renal papillae after treatment with a high dose of vasopressin. In spite of the lack of interstitial cells, the animals concentrated their urine to the same extent as vasopressin-treated normal rats, indicating that the renomedullary interstitial cells do not have an important function in concentrating the urine. The interstitial cells returned nearly to normal within 1 week off vasopressin treatment, suggesting a rapid turnover rate of these cells. To further distinguish different populations of interstitial cells, we studied the distribution of class II MHC antigen expression in the kidneys of normal and bone-marrow depleted Wistar rats. Normal rats had abundant class II antigen-positive interstitial cells in the renal cortex and outer medulla, but not in the inner medulla (papilla). Six days after 1000 rad whole body irradiation, the stainable cells were almost completely lost, but electron microscopic morphometry showed a virtually unchanged volume density of interstitial cells in the cortex and outer medulla, as well as the inner medulla. Thus, irradiation abolished the expression of the class II antigen but caused no significant depletion of interstitial cells

  12. Early Identification of Interstitial Cystitis May Avoid Unnecessary Hysterectomy

    Science.gov (United States)

    Jarnagin, Barry

    2009-01-01

    Background: Interstitial cystitis is a clinical syndrome characterized by symptoms of pelvic pain, urinary urgency and frequency, and nocturia. It can be difficult to accurately identify interstitial cystitis because the symptoms overlap many other common gynecologic and urologic conditions. Patients with undiagnosed interstitial cystitis may undergo unnecessary procedures, including hysterectomy. Methods: A PubMed literature search for articles dating back to 1990 was conducted on the topics of interstitial cystitis and hysterectomy. Further references were identified by cross-referencing the bibliographies in articles of interest. Results: The literature review found that hysterectomy is performed more often in patients with undiagnosed interstitial cystitis than in patients with a confirmed diagnosis. Interstitial cystitis often coexists with conditions like endometriosis, for which hysterectomy is indicated. Many patients subsequently diagnosed with interstitial cystitis continue to experience persistent pelvic pain despite having had a hysterectomy for chronic pelvic pain. Careful history and physical examination can identify the majority of interstitial cystitis cases. Conclusion: Interstitial cystitis should be considered prior to hysterectomy in women who present with pelvic pain or who experience pelvic pain after a hysterectomy. If interstitial cystitis is diagnosed, appropriate therapy may eliminate the need for hysterectomy. PMID:19793476

  13. Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

    Science.gov (United States)

    Al-Owain, Mohammed; Kaya, Namik; Al-Zaidan, Hamad; Bin Hussain, Ibrahim; Al-Manea, Hadeel; Al-Hindi, Hindi; Kennedy, Shelley; Iqbal, M Anwar; Al-Mojalli, Hamad; Al-Bakheet, Albandary; Puel, Anne; Casanova, Jean-Laurent; Al-Muhsen, Saleh

    2010-01-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4)(q33). FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.

  14. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

    Directory of Open Access Journals (Sweden)

    Mohammed Al-Owain

    2010-01-01

    Full Text Available Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE. Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4(q33. FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.

  15. Early Identification of Interstitial Cystitis May Avoid Unnecessary Hysterectomy

    OpenAIRE

    Chung, Maurice K.; Jarnagin, Barry

    2009-01-01

    Background: Interstitial cystitis is a clinical syndrome characterized by symptoms of pelvic pain, urinary urgency and frequency, and nocturia. It can be difficult to accurately identify interstitial cystitis because the symptoms overlap many other common gynecologic and urologic conditions. Patients with undiagnosed interstitial cystitis may undergo unnecessary procedures, including hysterectomy. Methods: A PubMed literature search for articles dating back to 1990 was conducted on the topics...

  16. Smoking-related interstitial lung diseases; Interstitielle Lungenerkrankungen bei Rauchern

    Energy Technology Data Exchange (ETDEWEB)

    Marten, K. [Technische Univ. Muenchen (Germany). Klinikum rechts der Isar, Inst. fuer Roentgendiagnostik

    2007-03-15

    The most important smoking-related interstitial lung diseases (ILD) are respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, desquamative interstitial pneumonia, and Langerhans' cell histiocytosis. Although traditionally considered to be discrete entities, smoking-related ILDs often coexist, thus accounting for the sometimes complex patterns encountered on high-resolution computed tomography (HRCT). Further studies are needed to elucidate the causative role of smoking in the development of pulmonary fibrosis.

  17. Cdc42-dependent leading edge coordination is essential for interstitial dendritic cell migration

    DEFF Research Database (Denmark)

    Lammermann, Tim; Renkawitz, Jorg; Wu, Xunwei

    2009-01-01

    proteolysis. Instead, the protrusive flow of the actin cytoskeleton directly drives a basal mode of locomotion that is occasionally supported by actomyosin contractions at the trailing edge to propel the cell's rigid nucleus. We here delete the small GTPase Cdc42 in DCs and find that actin flow and actomyosin......Mature dendritic cells (DCs) moving from the skin to the lymph node are a prototypic example of rapidly migrating amoeboid leukocytes. Interstitial DC migration is directionally guided by chemokines, but independent of specific adhesive interactions with the tissue as well as pericellular...... contraction are still initiated in response to chemotactic cues. Accordingly, the cells are able to polarize and form protrusions. However, in the absence of Cdc42 the protrusions are temporally and spatially dysregulated which leads to impaired leading edge coordination. While this defect still allows...

  18. Case report: laparoscopic treatment of a ruptured interstitial pregnancy.

    Science.gov (United States)

    Grimbizis, Grigoris F; Tsalikis, Tryfon; Mikos, Themistoklis; Zepiridis, Leonidas; Athanasiadis, Apostolos; Tarlatzis, Basil C; Bontis, John N

    2004-10-01

    Interstitial pregnancy is a rare but life-threatening condition. A case of a 28-year-old woman with a partially ruptured interstitial pregnancy treated with operative laparoscopy is presented. A laparoscopic cornual resection and a left salpingectomy were performed uneventfully. Serum beta-human chorionic gonadotrophin concentrations were measured serially at weekly intervals until resolved on day 20 postoperatively. It seems, therefore, that laparoscopic treatment is still an effective option for management even in ruptured interstitial pregnancy, preserving the anatomical integrity of the uterus and future fertility, and that rupture of interstitial ectopic pregnancy is not a contra-indication for laparoscopy.

  19. Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

    Science.gov (United States)

    Knijnenburg, Jeroen; Uytdewilligen, Madiek E W; van Hassel, Daniella A C M; Oostenbrink, Rianne; Eussen, Bert H J; de Klein, Annelies; Brooks, Alice S; van Zutven, Laura J C M

    2017-09-01

    Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1, directly flanked by a distally located interstitial deletion of 2.3 Mb and a terminal segmental uniparental disomy. The duplicated and deleted regions lie exactly between the two segmental duplication regions. These segmental duplications on chromosome 8p23.1 are known to be involved in chromosomal rearrangements because of mutual homology and homology to other genomic regions. Genomic instability mediated by these segmental duplications is generally caused by non-allelic homologous recombination, resulting in deletions, reciprocal duplications, inversions and translocations. Additional analysis of the parental origin of the fragments of this atypical inverted duplication/interstitial deletion shows paternal contribution in the maternal derivate chromosome 8. Combined with the finding that the normal chromosome 8 carries an inversion in 8p23.1 we hypothesize that a double strand break in 8p23.1 of the maternal chromosome was postzygotically repaired with the paternal inverted copy resulting in a duplication, deletion and segmental uniparental disomy, with no particular mediation of the 8p23.1 segmental duplication regions in recombination. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. [Central lung embolism in chronic interstitial pneumopathy].

    Science.gov (United States)

    Mordasini, C; Hess, B; Zimmermann, A

    1998-04-15

    An 80 year old patient with known interstitial pneumopathy of unknown etiology was hospitalized because of acute onset and rapid deterioration of dyspnea at rest within days. A foregoing neurologic investigation including CT and EEG because of prior syncopes and cramp attacks had not revealed pathologic findings. Thorax X-ray at admission showed homogenous loss of transparency on the left side, calcified basal plaques on both sides and prominent central pulmonary vessels with jumping caliber. A punctate of the leftsided pleural effusion revealed lymphocytic exsudate, normal pH, low glucose and an elevated LDH. The patient died shortly after a collapse at a bowel visit and pulmonary embolism was suspected in accordance to results from arterial blood gas analysis, ECG and chest X-ray. Neurologic symptoms could be explained by recurrent pulmonary embolism. Pleural plaques together with the punctate suggested a malignant etiology. A mesothelioma was taken into consideration, although there were no anamnestic reports on an exposition to asbestos. Autopsy revealed almost complete central embolism of the left pulmonary artery with acute cor pulmonale thus confirming the clinical suspicion. The embolus showed components of different ages of origin. Besides bronchitic and emphysematous alteration histology of the pulmonary tissue revealed interstitial and septal fibrosis with focal tissue consolidation. In one giant cell a typical asbestos body was found (in 1 out of 10 sections). In spite of missing information on an exposition to asbestos an abnormally high exposition must be taken into consideration because of the finding of an asbestos particle in relation to the amount of tissue studied. Apart from interstitial fibrosis asbestos may also cause consolidation of pulmonary tissue. Histology of plaquelike lesions revealed mesothelioma of fibrous type. This finding supports the suspicion that a major part of the pulmonary lesions was due to exposition to asbestos.

  1. Interstitial brachytherapy in carcinoma of the penis

    International Nuclear Information System (INIS)

    Chaudhary, A.J.; Ghosh, S.; Bhalavat, R.L.; Kulkarni, J.N.; Sequeira, B.V.E.

    1999-01-01

    Aim: Keeping in line with the increasing emphasis on organ preservation, we at the Tata Memorial Hospital have evaluated the role of Ir-192 interstitial implant as regards local control, functional and cosmetic outcome in early as well as locally recurrent carcinoma of the distal penis. Patients and Methods: From October 1988 to December 1996, 23 patients with histopathologically proven cancer of the penis were treated with radical radiation therapy using Ir-192 temporary interstitial implant. Our patients were in the age group of 20 to 60 years. The primary lesions were T1 and 7, T2 in 7 and recurrent in 9 patients. Only 7 patients had palpable groin nodes at presentation, all of which were pathologically negative. The median dose of implant was 50 Gy (range 40 to 60 Gy), using the LDR afterloading system and the Paris system of implant rules for dosimetry. Follow-up ranged from 4 to 117 months (median 24 months). Results: At last follow-up 18 of the 23 patients remained locally controlled with implant alone. Three patients failed only locally, 2 locoregionally and 1 only at the groin. Of the 5 patients who failed locally, 4 were successfully salvaged with partial penectomy and remained controlled when last seen. Local control with implant alone at 8 years was 70% by life table analysis. The patients had excellent functional and cosmetic outcome. We did not record any case of skin or softtissue necrosis. Only 2 patients developed meatal stenosis, both of which were treated endoscopically. Conclusion: Our results lead us to interpret that interstitial brachytherapy with Ir-192 offers excellent local control rates with preservation of organ and function. Penectomy can be reserved as a means for effective salvage. (orig.) [de

  2. Renal extramedullary hematopoiesis: interstitial and glomerular pathology.

    Science.gov (United States)

    Alexander, Mariam P; Nasr, Samih H; Kurtin, Paul J; Casey, Edward T; Hernandez, Loren P Herrera; Fidler, Mary E; Sethi, Sanjeev; Cornell, Lynn D

    2015-12-01

    Renal extramedullary hematopoiesis is rarely recognized in the antemortem setting. We identified 14 patients with renal extramedullary hematopoiesis on antemortem specimens from 1994 to 2015. The mean age was 68 years (range 47-87 years); males predominated (M:F=9:5). All presented with renal insufficiency, including five (36%) with acute kidney injury. The mean serum creatinine at biopsy was 2.9 mg/dl (range 1.2-7.3 mg/dl). All had proteinuria (mean 7.9 g/24 h; range 0.5-28; n=13), including 9 with ≥3 g/24 h. Renal extramedullary hematopoiesis appeared histologically as an interstitial infiltrate (n=12) and/or a perirenal infiltrate (n=3) or mass-like lesion (n=1). Five were misdiagnosed as interstitial nephritis. Concurrent glomerular disease was prevalent and included fibrillary-like glomerulonephritis (n=3), chronic thrombotic microangiopathy (n=5), focal segmental glomerulosclerosis (n=6), and diabetic glomerulosclerosis (n=2). All patients had an underlying hematologic malignancy: primary myelofibrosis in 9, myeloproliferative neoplasm not otherwise specified in 1, essential thrombocythemia in 1, polycythemia vera in 1, and plasma cell myeloma in 2. Clinical follow-up was available in 12 patients, mean of 29 months (range 4-120 months). In 10 patients for whom treatment history could be obtained, 9 were treated with chemotherapy, and 1 was treated with steroids. The mean creatinine at last follow-up was 2 mg/dl (range 1.2-3.9 mg/dl) (n=9). Ten patients died in the follow-up period from their underlying hematological disease and had persistent renal disease. The two remaining patients had persistent chronic kidney disease. Renal extramedullary hematopoiesis should be considered in the differential diagnosis of interstitial infiltrates, particularly in the presence of a glomerulopathy and a hematologic malignancy.

  3. A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

    NARCIS (Netherlands)

    Kolaitis, G. (Gerasimos); C.G. Bouwkamp (Christian); A. Papakonstantinou (Alexia); I. Otheiti (Ioanna); M. Belivanaki (Maria); S. Haritaki (Styliani); T. Korpa (Terpsihori); Z. Albani (Zinovia); E. Terzioglou (Elena); P. Apostola (Polyxeni); A. Skamnaki (Aggeliki); A. Xaidara (Athena); K. Kosma (Konstantina); S. Kitsiou-Tzeli (Sophia); M. Tzetis (Maria)

    2016-01-01

    markdownabstract_Background:_ This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. _Case presentation:_ We report on an 11 year-old boy, admitted to the

  4. Interstitial hydraulic conductivity and interstitial fluid pressure for avascular or poorly vascularized tumors.

    Science.gov (United States)

    Liu, L J; Schlesinger, M

    2015-09-07

    A correct description of the hydraulic conductivity is essential for determining the actual tumor interstitial fluid pressure (TIFP) distribution. Traditionally, it has been assumed that the hydraulic conductivities both in a tumor and normal tissue are constant, and that a tumor has a much larger interstitial hydraulic conductivity than normal tissue. The abrupt transition of the hydraulic conductivity at the tumor surface leads to non-physical results (the hydraulic conductivity and the slope of the TIFP are not continuous at tumor surface). For the sake of simplicity and the need to represent reality, we focus our analysis on avascular or poorly vascularized tumors, which have a necrosis that is mostly in the center and vascularization that is mostly on the periphery. We suggest that there is an intermediary region between the tumor surface and normal tissue. Through this region, the interstitium (including the structure and composition of solid components and interstitial fluid) transitions from tumor to normal tissue. This process also causes the hydraulic conductivity to do the same. We introduce a continuous variation of the hydraulic conductivity, and show that the interstitial hydraulic conductivity in the intermediary region should be monotonically increasing up to the value of hydraulic conductivity in the normal tissue in order for the model to correspond to the actual TIFP distribution. The value of the hydraulic conductivity at the tumor surface should be the lowest in value. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Photothermal damage prediction of laser interstitial thermotherapy

    Science.gov (United States)

    Li, Xiaoxia; Fan, Shifu; Zhao, Youquan

    2006-11-01

    An improved scattering optical model was developed under cylindrical coordinate to simulate the thermal effect of diffusing applicator in laser interstitial thermotherapy (LITT). The thermal damage was calculated by finite element method (FEM) using Pennes bio-heat transfer equation and Arrhenius injury integral formula. The numerical results showed that the scattering can considerably influence the evaluation of the lesion area, and the relationship between application powers or time and resulting tissue thermal damage was nonlinear. Although usually applying relatively low power can avoid tissue charring, rather higher power is recommended because it is indispensable to achieve necessary damage threshold and the therapy time can be shortened.

  6. Interstitial pneumonitis in canine visceral leishmaniasis

    Directory of Open Access Journals (Sweden)

    M. I. S. Duarte

    1986-12-01

    Full Text Available Forty-one naturally infected dogs with visceral leishmaniasis from an urban area of Corumbá (Mato Grosso do Sul-BRAZIL were studied and three types of lung involvement due to visceral leishmaniasis were characterized; a cellular, a cellular-fibrotic and a fibrotic type. These types seem to represent a sequential evolutive proce'as. Visceral leishmaniasis frequently causes an interstitial pneu monitis in naturally infected dogs (80.5% as well as in man and experimentally infected hamsters.

  7. On the optimization of interstitial hyperthermia systems

    Energy Technology Data Exchange (ETDEWEB)

    Handl-Zeller, L.; Kaercher, K.H.; Schreier, K.; Handl, O.

    1987-07-01

    After having studied the fundamental possibilities of proceedings allowing an intracorporal transfer of energy, two systems were investigated in detail in order to achieve a wide range of application: 1. Resistance heating of tissue by modified standard needles and individual regulation of each needle (system KHS-9). 2. Water heating of standard needles as used in interstitial radiotherapy and overall regulation of the total system. These new systems are supposed to be applied in clinical practice and have been developed by GSP-Wien at the suggestion of the University Hospital. Patent is applied for both of them.

  8. Interstitial cystitis: epidemiology, pathophysiology, and clinical presentation.

    Science.gov (United States)

    McLennan, Mary T

    2014-09-01

    Interstitial cystitis, or painful bladder syndrome, can present with lower abdominal pain/discomfort and dyspareunia, and pain in any distribution of lower spinal nerves. Patients with this condition experience some additional symptoms referable to the bladder, such as frequency, urgency, or nocturia. It can occur across all age groups, although the specific additional symptoms can vary in prevalence depending on patient age. It should be considered in patients who have other chronic pain conditions such as fibromyalgia, chronic fatigue, irritable bowel, and vulvodynia. The cause is still largely not understood, although there are several postulated mechanisms. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Diagnosis and management of interstitial cystitis.

    Science.gov (United States)

    Barr, Susan

    2014-09-01

    Interstitial cystitis is a diagnosis of exclusion. The definition has expanded over the years to encompass painful bladder syndrome. It is disease state that is often delayed in its diagnosis and difficult to manage. Treatment options include oral and intravesical therapies as well as both minor and major surgical options. Also, a patient can improve symptoms by following self-management recommendations that focus on both diet and stress management. Treatment options should be periodically evaluated with validated questionnaires to insure they are improving the patient's symptoms, and a multidisciplinary approach is best to manage the patient. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. On the optimization of interstitial hyperthermia systems

    International Nuclear Information System (INIS)

    Handl-Zeller, L.; Kaercher, K.H.; Schreier, K.; Handl, O.

    1987-01-01

    After having studied the fundamental possibilities of proceedings allowing an intracorporal transfer of energy, two systems were investigated in detail in order to achieve a wide range of application: 1. Resistance heating of tissue by modified standard needles and individual regulation of each needle (system KHS-9). 2. Water heating of standard needles as used in interstitial radiotherapy and overall regulation of the total system. These new systems are supposed to be applied in clinical practice and have been developed by GSP-Wien at the suggestion of the University Hospital. Patent is applied for both of them. (orig./HP) [de

  11. Surfactant gene polymorphisms and interstitial lung diseases

    Directory of Open Access Journals (Sweden)

    Pantelidis Panagiotis

    2001-11-01

    Full Text Available Abstract Pulmonary surfactant is a complex mixture of phospholipids and proteins, which is present in the alveolar lining fluid and is essential for normal lung function. Alterations in surfactant composition have been reported in several interstitial lung diseases (ILDs. Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD. The role of surfactant in lung disease is therefore drawing increasing attention following the elucidation of the genetic basis underlying its surface expression and the proof of surfactant abnormalities in ILD.

  12. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

    Science.gov (United States)

    Xu, Wenbo; Ahmad, Ayesha; Dagenais, Susan; Iyer, Ramaswamy K; Innis, Jeffrey W

    2012-03-01

    The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high-resolution array has not been reported in the evaluation of this group of patients. CHDs are reported in about 60% of patients with 4q deletion syndrome, occurring in the presence or absence of dHAND deletion, implying the existence of additional genes in 4q whose dosage influences cardiac development. We report an 8-month-old patient with a large mid-muscular to outlet ventricular septal defect (VSD), moderate-sized secundum-type atrial septal defect (ASD), thickened, dysplastic pulmonary valve with mild stenosis and moderate pulmonic regurgitation, and patent ductus arteriosus (PDA). Illumina CytoSNP array analysis disclosed a de novo, heterozygous, interstitial deletion of 11.6 Mb of genomic material from the long arm of chromosome 4, at 4q32.3-q34.3 (Chr4:167236114-178816031; hg18). The deleted region affects 37 RefSeq genes (hg18), including two provisional microRNA stemloops. Three genes in this region, namely TLL1 (Tolloid-like-1), HPGD (15-hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives-expressed protein 2), are known to be involved in cardiac morphogenesis. This report narrows the critical region responsible for CHDs seen in 4q deletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  13. Atypical presentation of a large interstitial pregnancy.

    Science.gov (United States)

    Rheinboldt, Matthew; Ibrahim, Sherif

    2013-06-01

    We report the case of a 20-year-old female who presented to the ER with a 1-week history of worsening abdominal pain and intermittent vaginal bleeding for the previous 5 days. Physical exam was notable for bilateral adnexal tenderness and a closed cervix without motion tenderness or discharge. Laboratory data demonstrated a beta HCG level of 7,787 IU/L, and pelvic ultrasound with transvaginal imaging was subsequently performed. Neither an adnexal mass nor a normal intrauterine pregnancy was demonstrable; however, a focal right fundal 7-cm area of heterogeneous echogenicity was observed. Initial findings were felt indeterminate with considerations including potential degenerating leiomyoma coexistent with a nonvisualized intrauterine pregnancy, ectopic pregnancy, or recent spontaneous abortion versus atypical interstitial ectopic pregnancy. The patient, initially declining further clinical intervention, returned within 24 h with continued pain. A repeat ultrasound demonstrated a relatively static and unchanged appearance with only a minimal concurrent interval increase in beta HCG levels. MRI was performed for further elucidation and demonstrated a heterogeneously hypervascular right fundal interstitial 6-cm mass, which, in the clinical context, was most suspicious for an ectopic pregnancy. Confirmatory laparoscopic cornual wedge resection and salpingectomy was subsequently performed.

  14. Intravesical liposome therapy for interstitial cystitis.

    Science.gov (United States)

    Tyagi, Pradeep; Kashyap, Mahendra; Majima, Tsuyoshi; Kawamorita, Naoki; Yoshizawa, Tsuyoshi; Yoshimura, Naoki

    2017-04-01

    Over the past two decades, there has been lot of interest in the use of liposomes as lipid-based biocompatible carriers for drugs administered by the intravesical route. The lipidic bilayer structure of liposomes facilitates their adherence to the apical membrane surface of luminal cells in the bladder, and their vesicular shape allows them to co-opt the endocytosis machinery for bladder uptake after instillation. Liposomes have been shown to enhance the penetration of both water-soluble and insoluble drugs, toxins, and oligonucleotides across the bladder epithelium. Empty liposomes composed entirely of the endogenous phospholipid, sphingomyelin, could counter mucosal inflammation and promote wound healing in patients suffering from interstitial cystitis. Recent clinical studies have tested multilamellar liposomes composed entirely of sphingomyelin as a novel intravesical therapy for interstitial cystitis. In addition, liposomes have been used as a delivery platform for the instillation of botulinum toxin in overactive bladder patients. The present review discusses the properties of liposomes that are important for their intrinsic therapeutic effect, summarizes the recently completed clinical studies with intravesical liposomes and covers the latest developments in this field. © 2017 The Japanese Urological Association.

  15. The Interstitial Language and Transnational Experience

    Directory of Open Access Journals (Sweden)

    Paolo Bartoloni

    2013-08-01

    Full Text Available In this essay I argue that the idea of inhabiting, and of human individuality as the house of being, are fruitful ideas if located in a space defined by movement, porosity, interstitiality, and in an urban and architectural paradigm which is based on openness and inclusiveness. Transnational experiences and localities can be, to this end, extremely instructive. It is essential to articulate the notion of dwelling within an urban context in which building is the result of complex cultural and social interactions, which are characterised not only by the negotiation of space and materials but also, and more importantly, by a range of symbolic values. The symbolism that I refer to here is the product of mnemonic and emotional experiences marked by time and space, which in the case of the migratory and transnational experiences is arrived at through a delicate negotiation of the past and the present, and the ‘here’ (the current locality and the ‘there’ (the native locality. The dwelling that I speak of is, therefore, a double dwelling divided between the present at-hand and the remembered past, and as such it inhabits a space, which is both interstitial and liminal, simultaneously in and out-of-place. I have chosen the Italian Forum in Sydney as a working sample of the place-out-of-place

  16. Theory of the change of elastic constants by interstitials

    International Nuclear Information System (INIS)

    Breuer, N.; Dederichs, P.H.; Lehmann, C.; Leibfried, G.; Scholz, A.

    1975-01-01

    The theory of the change of elastic constants by point-defects, in particular by interstitials, is briefly summarized. The typical effects of spring changes in a defect lattice on the elastic data are discussed qualitatively. Numerical results for the change of elastic constants by self-interstitials and vacancies are given and compared with experimental data for Cu and Al

  17. Bladder pain syndrome/interstitial cystitis in a Danish population

    DEFF Research Database (Denmark)

    Richter, Benedikte; Hesse, Ulrik; Hansen, Alastair B

    2010-01-01

    To characterize and evaluate a Danish patient population with bladder pain syndrome/interstitial cystitis (BPS/IC), using a working definition for BPS/IC incorporating six variables, and a set of criteria defined by the European Society for the Study of Interstitial Cystitis (ESSIC); to describe...

  18. Evaluation of Patients with Painful Bladder Syndrome/Interstitial Cystitis

    Directory of Open Access Journals (Sweden)

    Jean Jacques Wyndaele

    2005-01-01

    Full Text Available This review looks into the evaluation of patients with interstitial cystitis (IC. Interstitial cystitis is not easy to define. There is a lot of activity in this domain and a great international effort is made to get to a generally accepted definition and standardised protocols for diagnosis and treatment. We have not reached this point so far.

  19. Atomic displacements due to interstitial hydrogen in Cu and Pd

    Indian Academy of Sciences (India)

    Abstract. The density functional theory (DFT) is used to study the atomic interac- tions in transition metal-based interstitial alloys. The strain field is calculated in the discrete lattice model using Kanzaki method. The total energy and hence atomic forces between interstitial hydrogen and transition metal hosts are calculated ...

  20. Interstitial ectopic pregnancy: a case report | Alagbe | Pan African ...

    African Journals Online (AJOL)

    Interstitial ectopic pregnancy is a rare type of tubal pregnancy that poses diagnostic challenge. It is associated with the highest risk of massive, uncontrollable bleeding and can result in uterine rupture in the second trimester. This is a rare case of unruptured interstitial ectopic diagnosed in the first trimester by ...

  1. Advanced sickle cell associated interstitial lung disease presenting ...

    African Journals Online (AJOL)

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

  2. Selective Uterine Artery Embolization for Management of Interstitial Ectopic Pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Seung Boo; Lee, Sang Jin; Joe, Hwan Sung; Goo, Dong Erk; Chang, Yun Woo [Soonchunhyang University Gumi Hospital, Gumi (Korea, Republic of); Kim, Dong Hun [Chosun University Hospital, Gwangju (Korea, Republic of)

    2007-04-15

    Interstitial pregnancy is defined as any gestation that develops in the uterine portion of the fallopian tubes lateral to the round ligament. Interstitial pregnancies account for 2-4% of all ectopic pregnancies and have been reported to have an associated 2% to 2.5% maternal mortality rate. The traditional treatment for interstitial pregnancy using surgical cornual resection may cause infertility or uterine rupture in subsequent pregnancies. Recently, the early identification of intact interstitial pregnancy has been made possible in many cases with high resolution transvaginal ultrasound as well as more sensitive assays for betahuman chorionic gonadotropin ({beta}-hCG). The treatment includes: hysteroscopic transcervical currettage, local and systemic methotrexate (MTX) therapy and prostaglandin or potassium chloride injection of the ectopic mass under sonographic guidance. We describe a case of successful treatment of interstitial pregnancy using uterine artery embolization, after failure of methotrexate treatment.

  3. Selective Uterine Artery Embolization for Management of Interstitial Ectopic Pregnancy

    International Nuclear Information System (INIS)

    Yang, Seung Boo; Lee, Sang Jin; Joe, Hwan Sung; Goo, Dong Erk; Chang, Yun Woo; Kim, Dong Hun

    2007-01-01

    Interstitial pregnancy is defined as any gestation that develops in the uterine portion of the fallopian tubes lateral to the round ligament. Interstitial pregnancies account for 2-4% of all ectopic pregnancies and have been reported to have an associated 2% to 2.5% maternal mortality rate. The traditional treatment for interstitial pregnancy using surgical cornual resection may cause infertility or uterine rupture in subsequent pregnancies. Recently, the early identification of intact interstitial pregnancy has been made possible in many cases with high resolution transvaginal ultrasound as well as more sensitive assays for betahuman chorionic gonadotropin (β-hCG). The treatment includes: hysteroscopic transcervical currettage, local and systemic methotrexate (MTX) therapy and prostaglandin or potassium chloride injection of the ectopic mass under sonographic guidance. We describe a case of successful treatment of interstitial pregnancy using uterine artery embolization, after failure of methotrexate treatment

  4. Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2013-01-01

    Full Text Available We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene.

  5. Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

    Directory of Open Access Journals (Sweden)

    Fátima Lopes

    2017-10-01

    Full Text Available Mutations in early B cell factor 3 (EBF3 were recently described in patients with a neurodevelopmental disorder (NDD that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB affecting almost exclusively EBF3 are not commonly reported. We performed array comparative genomic hybridization (aCGH (Agilent 180K and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes are causative of a similar syndrome, including intellectual disability (ID with associated neurological symptoms and particular facial dysmorphisms.

  6. Molecular analysis of two mouse dilute locus deletion mutations: Spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles

    International Nuclear Information System (INIS)

    Strobel, M.C.; Seperack, P.K.; Copeland, N.G.; Jenkins, N.A.

    1990-01-01

    The dilute (d) coat color locus of mouse chromosome 9 has been identified by more than 200 spontaneous and mutagen-induced recessive mutations. With the advent of molecular probes for this locus, the molecular lesion associated with different dilute alleles can be recognized and precisely defined. In this study, two dilute mutations, dilute-lethal20J (dl20J) and dilute prenatal lethal Aa2, have been examined. Using a dilute locus genomic probe in Southern blot analysis, we detected unique restriction fragments in dl20J and Aa2 DNA. Subsequent analysis of these fragments showed that they represented deletion breakpoint fusion fragments. DNA sequence analysis of each mutation-associated deletion breakpoint fusion fragment suggests that both genomic deletions were generated by nonhomologous recombination events. The spontaneous dl20J mutation is caused by an interstitial deletion that removes a single coding exon of the dilute gene. The correlation between this discrete deletion and the expression of all dilute-associated phenotypes in dl20J homozygotes defines the dl20J mutation as a functional null allele of the dilute gene. The radiation-induced Aa2 allele is a multilocus deletion that, by complementation analysis, affects both the dilute locus and the proximal prenatal lethal-3 (pl-3) functional unit. Molecular analysis of the Aa2 deletion breakpoint fusion fragment has provided access to a previously undefined gene proximal to d. Initial characterization of this new gene suggests that it may represent the genetically defined pl-3 functional unit

  7. Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.

    Science.gov (United States)

    Riccardi, Federica; Rivolta, Gianna F; Uliana, Vera; Grati, Francesca R; La Starza, Roberta; Marcato, Livia; Di Perna, Caterina; Quintavalle, Gabriele; Garavelli, Livia; Rosato, Simonetta; Sammarelli, Gabriella; Neri, Tauro M; Tagliaferri, Annarita; Martorana, Davide

    2015-01-01

    Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this study, we describe the clinical consequences of the concurrent presence of an interstitial deletion in 13q34 and a terminal deletion in 4q35.2 in an Italian family. The index patient, a 19-year-old male, as well as his 12-year-old sister are carriers of both deletions, one of maternal and the other of paternal origin. The phenotype includes language delay, multiorgan involvement and bleeding diathesis with mild deficiency of factors X and VII. In the sister, the concomitant presence of Noonan syndrome may partly explain the clinical symptoms. The deleted region on chromosome 13 involves several genes (ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, and LAMP1); some of these seem to play a role in the proband's phenotype. The terminal deletion in 4q35.2 contains other OMIM genes (FRG1, FRG2 and DBET); moreover, the 4q region is reported as a susceptibility locus for Crohn's disease, diagnosed in the proband's father. To our knowledge, this is the first report of a family with these 2 submicroscopic copy number changes. We tried to relate the clinical phenotype of the proband and his family to the molecular function of the involved genes. © 2015 S. Karger AG, Basel.

  8. 78 FR 68823 - Procurement List Deletions

    Science.gov (United States)

    2013-11-15

    ...'Day Act (41 U.S.C. 8501-8506) in connection with the products and services deleted from the... Center, Chicago, IL. Service Type/Location: Janitorial/Custodial Service, Gamelin USARC, 10 Asylum Road... COMMITTEE FOR PURCHASE FROM PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List Deletions...

  9. Seven gene deletions in seven days

    DEFF Research Database (Denmark)

    Ingemann Jensen, Sheila; Lennen, Rebecca; Herrgard, Markus

    2015-01-01

    genes and a rhamnose inducible flippase recombinase was constructed to facilitate fast marker-free deletions. To further speed up the procedure, we integrated the arabinose inducible lambda Red recombineering genes and the rhamnose inducible FLP into the genome of E. coli K-12 MG1655. This system...... in which four to seven genes were deleted in E. coli W and E. coli K-12. The growth rate of an E. coli K-12 quintuple deletion strain was significantly improved in the presence of high concentrations of acetate and NaCl. In conclusion, we have generated a method that enables efficient and simultaneous...... deletion of multiple genes in several E. coli variants. The method enables deletion of up to seven genes in as little as seven days....

  10. Probabilistic cloning and deleting of quantum states

    International Nuclear Information System (INIS)

    Feng Yuan; Zhang Shengyu; Ying Mingsheng

    2002-01-01

    We construct a probabilistic cloning and deleting machine which, taking several copies of an input quantum state, can output a linear superposition of multiple cloning and deleting states. Since the machine can perform cloning and deleting in a single unitary evolution, the probabilistic cloning and other cloning machines proposed in the previous literature can be thought of as special cases of our machine. A sufficient and necessary condition for successful cloning and deleting is presented, and it requires that the copies of an arbitrarily presumed number of the input states are linearly independent. This simply generalizes some results for cloning. We also derive an upper bound for the success probability of the cloning and deleting machine

  11. Pemphigus vulgaris-associated interstitial lung disease.

    Science.gov (United States)

    Bai, Yi-Xiu; Chu, Jin-Gang; Xiao, Ting; Chen, Hong-Duo

    2016-07-01

    Autoimmune bullous diseases (AIBDs)-associated interstitial lung disease (ILD) is extremely rare. Pemphigus vulgaris (PV) is an intraepidermal autoimmune blistering disease caused by circulating autoantibodies against desmoglein. To date, PV-associated ILD has rarely been reported in English literature. We report a rare association of PV and ILD. A 53-year-old Chinese female with PV for 8 months developed ILD after a relapse of PV for 2 months due to discontinuation of oral prednisone by herself. She was successfully treated by systemic methylprednisolone. Taken previously reported bullous pemphigoid-associated ILD and linear IgA/IgG bullous dermatosis-associated ILD together, in general, AIBDs-associated ILD occurs when AIBDs relapse or are not controlled, responds well to systemic corticosteroids, and has a relatively better prognosis when compared with rheumatoid arthritis- or dermatomyositis-associated ILD. © 2016 Wiley Periodicals, Inc.

  12. Systems medicine advances in interstitial lung disease.

    Science.gov (United States)

    Greiffo, Flavia R; Eickelberg, Oliver; Fernandez, Isis E

    2017-09-30

    Fibrotic lung diseases involve subject-environment interactions, together with dysregulated homeostatic processes, impaired DNA repair and distorted immune functions. Systems medicine-based approaches are used to analyse diseases in a holistic manner, by integrating systems biology platforms along with clinical parameters, for the purpose of understanding disease origin, progression, exacerbation and remission.Interstitial lung diseases (ILDs) refer to a heterogeneous group of complex fibrotic diseases. The increase of systems medicine-based approaches in the understanding of ILDs provides exceptional advantages by improving diagnostics, unravelling phenotypical differences, and stratifying patient populations by predictable outcomes and personalised treatments. This review discusses the state-of-the-art contributions of systems medicine-based approaches in ILDs over the past 5 years. Copyright ©ERS 2017.

  13. Interstitial radiophosphorus diagnosis of breast cancer

    International Nuclear Information System (INIS)

    Portnoj, S.M.; Gabuniya, R.I.; Godin, V.P.; Letyagin, V.P.

    1992-01-01

    Method of invasive β-radiometry in breast cancer was developed. Analysis of observations of 148 patients with breast cancer was presented. Qualitative increase of count efficiency is the important advantage for interstitial β-radiometry in intratumoral situation of β-detector. Radionuclide activity of 37-74 kBq/kg permits to receive values of relative accumulation of 32 P in a tumor (RAPTu1) by invasive method. Tendency is evident to some decrease of mean values of RAPTu1 in investigations conducted in 70 hrs and more after 32 P introduction. Study on relative accumulation of radionuclide in tumor after conservative treatment can serve as a criterion for evaluation of efficiency of antitumor treatment

  14. Treatment of interstitial cystitis in women

    Directory of Open Access Journals (Sweden)

    Ching-Hung Hsieh

    2012-12-01

    Full Text Available Interstitial cystitis (IC has been described as a chronic debilitating sterile inflammatory multifactorial bladder syndrome of unknown etiology. IC is characterized by bladder pain (or suprapubic pain associated with urgency, urinary frequency, and nocturia. Because the pathogenesis of IC remains unclear, it is still an enigma and represents a diagnostic and therapeutic challenge. The diagnosis of IC remains unclear and is based on exclusion of other diseases. Consequently, IC has usually been underdiagnosed, and the consensus on best available treatment for the disease is lacking. The current goal for the treatment of IC is usually symptomatic relief, and treatment protocols are based on empiricism. Multiple forms of therapy are available, and most patients can be managed conservatively. Nevertheless, the efficacy of most treatments is short term. This review article gives an overview of the available treatments for IC.

  15. The multiple faces of leukocyte interstitial migration

    Science.gov (United States)

    Lämmermann, Tim; Germain, Ronald N.

    2014-01-01

    Spatiotemporal control of leukocyte dynamics within tissues is critical for successful innate and adaptive immune responses. Homeostatic trafficking and coordinated infiltration into and within sites of inflammation and infection rely on signaling in response to extracellular cues that in turn controls a variety of intracellular protein networks regulating leukocyte motility, migration, chemotaxis, positioning, and cell–cell interaction. In contrast to mesenchymal cells, leukocytes migrate in an amoeboid fashion by rapid cycles of actin polymerization and actomyosin contraction, and their migration in tissues is generally referred to as low adhesive and nonproteolytic. The interplay of actin network expansion, contraction, and adhesion shapes the exact mode of amoeboid migration, and in this review, we explore how leukocyte subsets potentially harness the same basic biomechanical mechanisms in a cell-type-specific manner. Most of our detailed understanding of these processes derives from in vitro migration studies in three-dimensional gels and confined spaces that mimic geometrical aspects of physiological tissues. We summarize these in vitro results and then critically compare them to data from intravital imaging of leukocyte interstitial migration in mouse tissues. We outline the technical challenges of obtaining conclusive mechanistic results from intravital studies, discuss leukocyte migration strategies in vivo, and present examples of mode switching during physiological interstitial migration. These findings are also placed in the context of leukocyte migration defects in primary immunodeficiencies. This overview of both in vitro and in vivo studies highlights recent progress in understanding the molecular and biophysical mechanisms that shape robust leukocyte migration responses in physiologically complex and heterogeneous environments. PMID:24573488

  16. Interstitial photonic radiosurgery for brain tumors

    Energy Technology Data Exchange (ETDEWEB)

    Kubo, Osami; Muragaki, Yoshihiro; Iseki, Hiroshi; Hori, Tomokatsu; Takakura, Kintomo [Tokyo Women' s Medical Coll. (Japan). Neurological Inst.

    1999-12-01

    The photon radiosurgery system (PRS) is a developed of the Photo-electron Corp. of Walham, Mass. The heart of this system is a thin needle, 3 mm in diameter and 100 mm long, from whose tip low-energy X-ray photon are isotropically emitted. This apparatus is a compact radiosurgery system that irradiates soft X ray from the tip of its small probe (weight of the machine=1.9 Kg). The PRS can be used either with a stereotactic frame or during a craniotomy as interstitial radiotherapy. The PRS is able to irradiate 15 Gy at the portion of 1.5 cm from the center for about 20 minutes and avoid severe damage to surrounding normal brain because of steep dose distribution curve. Because this system emits low-energy photons, almost the x-rays are attenuated in the patient. For a treatment of this system, dose rates outside the patient are close to background radiation levels. No special shielding of the patient or health care personnel is required. Basic examination of this system was done. C 6 cell line of Glioma was irradiated by PRS in vitro. A majority of tumor cells were died after 24 hrs. This time we estimated the effect of the PRS for brain tumors. We underwent the PRS to 72 patients from June 1995 to May 1999. Sixty-eight patients underwent intraoperative irradiation after removal and 4 patients had interstitial irradiation after stereotactic biopsy. All 16 cases of primary anaplastic astrocytomas survived and demonstrated good Karnofski performance scale. Median survival tomes of 17 primary cases of glioblastoma is 14 month. Two cases of malignant lymphoma showed complete remission in CT scan 24 hours after intraoperative radiosurgery using PRS and 2 cases of germ cell tumor demonstrated dramatic decrease of tumor size in a short period. There was no definite newly neurological deficit. The intraoperative radiosurgery using PRS is useful adjuvant therapy for brain tumors. (author)

  17. Regulation of tumor invasion by interstitial fluid flow

    Science.gov (United States)

    Shieh, Adrian C.; Swartz, Melody A.

    2011-02-01

    The importance of the tumor microenvironment in cancer progression is undisputed, yet the significance of biophysical forces in the microenvironment remains poorly understood. Interstitial fluid flow is a nearly ubiquitous and physiologically relevant biophysical force that is elevated in tumors because of tumor-associated angiogenesis and lymphangiogenesis, as well as changes in the tumor stroma. Not only does it apply physical forces to cells directly, but interstitial flow also creates gradients of soluble signals in the tumor microenvironment, thus influencing cell behavior and modulating cell-cell interactions. In this paper, we highlight our current understanding of interstitial fluid flow in the context of the tumor, focusing on the physical changes that lead to elevated interstitial flow, how cells sense flow and how they respond to changes in interstitial flow. In particular, we emphasize that interstitial flow can directly promote tumor cell invasion through a mechanism known as autologous chemotaxis, and indirectly support tumor invasion via both biophysical and biochemical cues generated by stromal cells. Thus, interstitial fluid flow demonstrates how important biophysical factors are in cancer, both by modulating cell behavior and coupling biophysical and biochemical signals.

  18. Modeling of interstitial diffusion of ion-implanted boron

    International Nuclear Information System (INIS)

    Velichko, O.I.; Knyazheva, N.V.

    2009-01-01

    A model of the interstitial diffusion of ion-implanted boron during rapid thermal annealing of silicon layers previously amorphized by implantation of germanium has been proposed. It is supposed that the boron interstitials are created continuously during annealing due to generation, dissolution, or rearrangement of the clusters of impurity atoms which are formed in the ion-implanted layers with impurity concentration above the solubility limit. The local elastic stresses arising due to the difference of boron atomic radius and atomic radius of silicon also contribute to the generation of boron interstitials. A simulation of boron redistribution during thermal annealing for 60 s at a temperature of 850 C has been carried out. The calculated profile agrees well with the experimental data. A number of the parameters of interstitial diffusion have been derived. In particular, the average migration length of nonequilibrium boron interstitials is equal to 12 nm. It was also obtained that approximately 1.94% of boron atoms were converted to the interstitial sites, participated in the fast interstitial migration, and then became immobile again transferring into a substitutional position or forming the electrically inactive complexes with crystal lattice defects. (authors)

  19. Regulation of tumor invasion by interstitial fluid flow

    International Nuclear Information System (INIS)

    Shieh, Adrian C; Swartz, Melody A

    2011-01-01

    The importance of the tumor microenvironment in cancer progression is undisputed, yet the significance of biophysical forces in the microenvironment remains poorly understood. Interstitial fluid flow is a nearly ubiquitous and physiologically relevant biophysical force that is elevated in tumors because of tumor-associated angiogenesis and lymphangiogenesis, as well as changes in the tumor stroma. Not only does it apply physical forces to cells directly, but interstitial flow also creates gradients of soluble signals in the tumor microenvironment, thus influencing cell behavior and modulating cell–cell interactions. In this paper, we highlight our current understanding of interstitial fluid flow in the context of the tumor, focusing on the physical changes that lead to elevated interstitial flow, how cells sense flow and how they respond to changes in interstitial flow. In particular, we emphasize that interstitial flow can directly promote tumor cell invasion through a mechanism known as autologous chemotaxis, and indirectly support tumor invasion via both biophysical and biochemical cues generated by stromal cells. Thus, interstitial fluid flow demonstrates how important biophysical factors are in cancer, both by modulating cell behavior and coupling biophysical and biochemical signals

  20. Genetics Home Reference: distal 18q deletion syndrome

    Science.gov (United States)

    ... Health Conditions Distal 18q deletion syndrome Distal 18q deletion syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Distal 18q deletion syndrome is a chromosomal condition that occurs when ...

  1. Genetics Home Reference: proximal 18q deletion syndrome

    Science.gov (United States)

    ... Health Conditions Proximal 18q deletion syndrome Proximal 18q deletion syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Proximal 18q deletion syndrome is a chromosomal condition that occurs when ...

  2. Interstitial lung diseases with fibrosis - the pattern at high resolution

    International Nuclear Information System (INIS)

    Jarzemska, A.; Lasek, W.; Nawrocka, E.; Meder, G.; Zapala, M.

    2003-01-01

    Surgical lung biopsy, either open thoracotomy or video-assisted thoracoscopy is recommended in the diagnosis of interstitial lung diseases (ILD). In some cases, however, the repetitive pattern of radiological features in high-resolution computed tomography is often sufficient to confirm the diagnosis in a non-invasive manner. The purpose of the study was to determine whether patients with ILD can be selected on the basis of the HRCT pattern. Thin-section CT scans were performed in 40 patients with histologically proven idiopathic interstitial pneumonia (26 patients with usual interstitial pneumonia UIP, 2 patients with desquamative interstitial pneumonia DIP, 2 patients with bronchiolitis obliterans organizing pneumonia BOOP, 2 patients with non-specific interstitial pneumonia NSIP, 11 patients with hypersensitivity pneumonitis, and 3 patients with pulmonary histiocytosis X). The location and the intensity of lesions were taken into consideration. Clinical and histopathological findings were compared. HRCT features of interstitial lung diseases such as nodules and cystic spaces in hypersensitivity pneumonitis and pulmonary histiocytosis, and ground-glass opacities in idiopathic interstitial pneumonias (IIP) were statistically significant for differential diagnosis in ILD cases. Combination of honeycombing and ground-glass opacities found in UIP and nodules found in DIP were also statistically significant features in IIP subtypes diagnosis. In some cases, HRCT patterns of hypersensitivity pneumonitis, pulmonary histiocytosis X and IPF combined with clinical findings allowed for the accurate diagnosis without resorting to lung biopsy. Within a group of idiopathic interstitial pneumonia only in usual interstitial pneumonia characteristic pattern in thin-section CT can be defined. In other subgroups some typical features can imply a diagnosis. (author)

  3. Selective uterine artery embolization for management of interstitial ectopic pregnancy.

    Science.gov (United States)

    Yang, Seung Boo; Lee, Sang Jin; Joe, Hwan Sung; Goo, Dong Erk; Chang, Yun Woo; Kim, Dong Hun

    2007-01-01

    Interstitial ectopic pregnancy is a rare condition of pregnancy and may be very dangerous if not identified and treated urgently. We report a case of successful treatment of an interstitial pregnancy using selective uterine artery embolization. A 27-year-old woman with interstitial pregnancy was treated by uterine artery embolization after failure of systemic methotrexate treatment. Her serum beta-human chorionic gonadotropin (beta-hCG) was undetectable one month after the therapeutic embolization and transvaginal sonography 31 days after embolization showed normal endometrium and cornu. The patient achieved a normal pregnancy eight months after embolization.

  4. A conservative and fertility preserving treatment for interstitial ectopic pregnancy.

    Science.gov (United States)

    Wright, Sarah D; Busbridge, Romy C; Gard, Gregory B

    2013-04-01

    This is a case series of women presenting to a tertiary care centre with a diagnosis of interstitial pregnancy. Dilatation and evacuation was performed under ultrasound control with systemic methotrexate post-operatively. All women had successful termination of their interstitial pregnancy. Although described in the international literature, this is the first time that this technique has been documented in Australia, and it may ultimately prove to be a relatively safe and simple fertility preserving method of treating women with unruptured interstitial pregnancies. © 2013 The Authors ANZJOG © 2013 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  5. High-resolution CT of lymphoid interstitial pneumonia

    International Nuclear Information System (INIS)

    Vilgrain, V.; Frija, J.; Yana, C.; Couderc, L.J.; David, M.; Clauvel, J.P.; Laval-Jeantet, M.

    1989-01-01

    Three patients with lymphoid interstitial pneumonia (two HIV 1+ patients with chronic lymphadenopathic syndromes and one with a not-characterized autoimmune disease) have been studied with high-resolution computed tomography (HR-CT). This technique reveals septal lines, small reticulonodular opacities, polyhedral micronodular opacities, 'ground-glass' opacities and a dense, subpleural, curved broken line in one patient. The lesions dominate in the bases of the lungs. They are not characteristic for lymphoid interstitial pneumonia. If a patient presents with a chronic lymphadenopathic syndrome, the diagnosis of an opportunistic infection should not be automatically made, since the syndrome can be caused by lymphoid interstitial pneumonia [fr

  6. Bladder afferent hyperexcitability in bladder pain syndrome/interstitial cystitis.

    Science.gov (United States)

    Yoshimura, Naoki; Oguchi, Tomohiko; Yokoyama, Hitoshi; Funahashi, Yasuhito; Yoshikawa, Satoru; Sugino, Yoshio; Kawamorita, Naoki; Kashyap, Mahendra P; Chancellor, Michael B; Tyagi, Pradeep; Ogawa, Teruyuki

    2014-04-01

    Bladder pain syndrome/interstitial cystitis is a disease with lower urinary tract symptoms, such as bladder pain and urinary frequency, which results in seriously impaired quality of life of patients. The extreme pain and urinary frequency are often difficult to treat. Although the etiology of bladder pain syndrome/interstitial cystitis is still not known, there is increasing evidence showing that afferent hyperexcitability as a result of neurogenic bladder inflammation and urothelial dysfunction is important to the pathophysiological basis of symptom development. Further investigation of the pathophysiology will lead to the effective treatment of patients with bladder pain syndrome/interstitial cystitis. © 2014 The Japanese Urological Association.

  7. Gallium interstitial contributions to diffusion in gallium arsenide

    Science.gov (United States)

    Schick, Joseph T.; Morgan, Caroline G.

    2011-09-01

    A new diffusion path is identified for gallium interstitials, which involves lower barriers than the barriers for previously identified diffusion paths [K. Levasseur-Smith and N. Mousseau, J. Appl. Phys. 103, 113502 (2008), P. A. Schultz and O. A. von Lilienfeld, Modelling and Simulation in Materials Science and Engineering 17, 084007 (2009)] for the charge states which dominate diffusion over most of the available range of Fermi energies. This path passes through the ⟨110⟩ gallium-gallium split interstitial configuration, and has a particularly low diffusion barrier of 0.35 eV for diffusion in the neutral charge state. As a part of this work, the character of the charge states for the gallium interstitials which are most important for diffusion is investigated, and it is shown that the last electron bound to the neutral interstitial occupies a shallow hydrogenic bound state composed of conduction band states for the hexagonal interstitial and both tetrahedral interstitials. How to properly account for the contributions of such interstitials is discussed for density-functional calculations with a k-point mesh not including the conduction band edge point. Diffusion barriers for gallium interstitials are calculated in all the charge states which can be important for a Fermi level anywhere in the gap, q = 0, +1, +2, and +3, for diffusion via the ⟨110⟩ gallium-gallium split interstitial configuration and via the hexagonal interstitial configuration. The lowest activation enthalpies over most of the available range of Fermi energies are found to correspond to diffusion in the neutral or singly positive state via the ⟨110⟩ gallium-gallium split interstitial configuration. It is shown that several different charge states and diffusion paths contribute significantly for Fermi levels within 0.2 eV above the valence band edge, which may help to explain some of the difficulties [H. Bracht and S. Brotzmann, Phys. Rev. B 71, 115216 (2005)] which have been

  8. Gallium interstitial contributions to diffusion in gallium arsenide

    Directory of Open Access Journals (Sweden)

    Joseph T. Schick

    2011-09-01

    Full Text Available A new diffusion path is identified for gallium interstitials, which involves lower barriers than the barriers for previously identified diffusion paths [K. Levasseur-Smith and N. Mousseau, J. Appl. Phys. 103, 113502 (2008, P. A. Schultz and O. A. von Lilienfeld, Modelling and Simulation in Materials Science and Engineering 17, 084007 (2009] for the charge states which dominate diffusion over most of the available range of Fermi energies. This path passes through the ⟨110⟩ gallium-gallium split interstitial configuration, and has a particularly low diffusion barrier of 0.35 eV for diffusion in the neutral charge state. As a part of this work, the character of the charge states for the gallium interstitials which are most important for diffusion is investigated, and it is shown that the last electron bound to the neutral interstitial occupies a shallow hydrogenic bound state composed of conduction band states for the hexagonal interstitial and both tetrahedral interstitials. How to properly account for the contributions of such interstitials is discussed for density-functional calculations with a k-point mesh not including the conduction band edge point. Diffusion barriers for gallium interstitials are calculated in all the charge states which can be important for a Fermi level anywhere in the gap, q = 0, +1, +2, and +3, for diffusion via the ⟨110⟩ gallium-gallium split interstitial configuration and via the hexagonal interstitial configuration. The lowest activation enthalpies over most of the available range of Fermi energies are found to correspond to diffusion in the neutral or singly positive state via the ⟨110⟩ gallium-gallium split interstitial configuration. It is shown that several different charge states and diffusion paths contribute significantly for Fermi levels within 0.2 eV above the valence band edge, which may help to explain some of the difficulties [H. Bracht and S. Brotzmann, Phys. Rev. B 71, 115216 (2005] which

  9. Interstitial shadow on chest CT is associated with the onset of interstitial lung disease caused by chemotherapeutic drugs

    International Nuclear Information System (INIS)

    Niho, Seiji; Goto, Koichi; Yoh, Kiyotaka; Kim, Y.H.; Ohmatsu, Hironobu; Kubota, Kaoru; Saijo, Nagahiro; Nishiwaki, Yutaka

    2006-01-01

    Pretreatment computerized tomography (CT) films of the chest was studied to clarify the influence of interstitial shadow on developing interstitial lung disease (ILD). Eligible patients were those lung cancer patients who started to receive first-line chemotherapy between October 2001 and March 2004. Patients who received thoracic radiotherapy to the primary lesion, mediastinum, spinal or rib metastases were excluded. We reviewed pretreatment conventional CT and plain X-ray films of the chest. Ground-glass opacity, consolidation or reticular shadow without segmental distribution was defined as interstitial shadow, with this event being graded as mild, moderate or severe. If interstitial shadow was detected on CT films of the chest, but not via plain chest X-ray, it was graded as mild. Patients developing ILD were identified from medial records. A total of 502 patients were eligible. Mild, moderate and severe interstitial shadow was identified in 7, 8 and 5% of patients, respectively. A total of 188 patients (37%) received tyrosine kinase inhibitor (TKI) treatment, namely gefitinib or erlotinib. Twenty-six patients (5.2%) developed ILD either during or after chemotherapy. Multivariate analyses revealed that interstitial shadow on CT films of the chest and treatment history with TKI were associated with the onset of ILD. It is recommended that patients with interstitial shadow on chest CT are excluded from future clinical trials until this issue is further clarified, as it is anticipated that use of chemotherapeutic agents frequently mediate onset of ILD in this context. (author)

  10. Interstitial brachytherapy in carcinoma of the penis

    Energy Technology Data Exchange (ETDEWEB)

    Chaudhary, A.J.; Ghosh, S.; Bhalavat, R.L. [Tata Memorial Hospital, Mumbai (India). Dept. of Radiation Oncology; Kulkarni, J.N. [Tata Memorial Hospital, Mumbai (India). Dept. of Surgery; Sequeira, B.V.E. [Tata Memorial Hospital, Mumbai (India). Dept. of Medical Physics

    1999-01-01

    Aim: Keeping in line with the increasing emphasis on organ preservation, we at the Tata Memorial Hospital have evaluated the role of Ir-192 interstitial implant as regards local control, functional and cosmetic outcome in early as well as locally recurrent carcinoma of the distal penis. Patients and Methods: From October 1988 to December 1996, 23 patients with histopathologically proven cancer of the penis were treated with radical radiation therapy using Ir-192 temporary interstitial implant. Our patients were in the age group of 20 to 60 years. The primary lesions were T1 and 7, T2 in 7 and recurrent in 9 patients. Only 7 patients had palpable groin nodes at presentation, all of which were pathologically negative. The median dose of implant was 50 Gy (range 40 to 60 Gy), using the LDR afterloading system and the Paris system of implant rules for dosimetry. Follow-up ranged from 4 to 117 months (median 24 months). Results: At last follow-up 18 of the 23 patients remained locally controlled with implant alone. Three patients failed only locally, 2 locoregionally and 1 only at the groin. Of the 5 patients who failed locally, 4 were successfully salvaged with partial penectomy and remained controlled when last seen. Local control with implant alone at 8 years was 70% by life table analysis. The patients had excellent functional and cosmetic outcome. We did not record any case of skin or softtissue necrosis. Only 2 patients developed meatal stenosis, both of which were treated endoscopically. Conclusion: Our results lead us to interpret that interstitial brachytherapy with Ir-192 offers excellent local control rates with preservation of organ and function. Penectomy can be reserved as a means for effective salvage. (orig.) [Deutsch] Ziel: Das Prinzip des Organerhalts gewinnt in der Onkologie zunehmend an Bedeutung. Ziel dieser Untersuchung war es, die Rolle der interstitiellen Brachytherapie mit Ir-192 zur Behandlung des fruehen und rezidivierten Peniskarzinoms zu

  11. Interstitial rotating shield brachytherapy for prostate cancer

    International Nuclear Information System (INIS)

    Adams, Quentin E.; Xu, Jinghzu; Breitbach, Elizabeth K.; Li, Xing; Rockey, William R.; Kim, Yusung; Wu, Xiaodong; Flynn, Ryan T.; Enger, Shirin A.

    2014-01-01

    Purpose: To present a novel needle, catheter, and radiation source system for interstitial rotating shield brachytherapy (I-RSBT) of the prostate. I-RSBT is a promising technique for reducing urethra, rectum, and bladder dose relative to conventional interstitial high-dose-rate brachytherapy (HDR-BT). Methods: A wire-mounted 62 GBq 153 Gd source is proposed with an encapsulated diameter of 0.59 mm, active diameter of 0.44 mm, and active length of 10 mm. A concept model I-RSBT needle/catheter pair was constructed using concentric 50 and 75 μm thick nickel-titanium alloy (nitinol) tubes. The needle is 16-gauge (1.651 mm) in outer diameter and the catheter contains a 535 μm thick platinum shield. I-RSBT and conventional HDR-BT treatment plans for a prostate cancer patient were generated based on Monte Carlo dose calculations. In order to minimize urethral dose, urethral dose gradient volumes within 0–5 mm of the urethra surface were allowed to receive doses less than the prescribed dose of 100%. Results: The platinum shield reduced the dose rate on the shielded side of the source at 1 cm off-axis to 6.4% of the dose rate on the unshielded side. For the case considered, for the same minimum dose to the hottest 98% of the clinical target volume (D 98% ), I-RSBT reduced urethral D 0.1cc below that of conventional HDR-BT by 29%, 33%, 38%, and 44% for urethral dose gradient volumes within 0, 1, 3, and 5 mm of the urethra surface, respectively. Percentages are expressed relative to the prescription dose of 100%. For the case considered, for the same urethral dose gradient volumes, rectum D 1cc was reduced by 7%, 6%, 6%, and 6%, respectively, and bladder D 1cc was reduced by 4%, 5%, 5%, and 6%, respectively. Treatment time to deliver 20 Gy with I-RSBT was 154 min with ten 62 GBq 153 Gd sources. Conclusions: For the case considered, the proposed 153 Gd-based I-RSBT system has the potential to lower the urethral dose relative to HDR-BT by 29%–44% if the clinician allows

  12. Successful Laparoscopic Removal of an Interstitial Ectopic Pregnancy

    Science.gov (United States)

    Pelosi

    1994-08-01

    This presentation describes the successful laparoscopic removal of an interstitial ectopic pregnancy. Interstitial pregnancy is rare (2%-4% of tubal pregnancies). Due to its location, rupture usually results in hemorrhagic shock. Current treatments include cornual resection, hysterectomy, local injection of potassium chloride or methotrexate, and systemic methotrexate. The laparoscopic treatment of interstitial pregnancy has not been reported with the exception of Reich et al (1988). A 38 year-old gravida 4 para 3 underwent cornual resection, while preserving the tube, for a right interstitial 9-week pregnancy using the single umbilical puncture approach. The operating time was 45 minutes and blood loss 50 ml. The patient was discharged at 24 hours and had an uneventful postoperative course.

  13. CD34-positive interstitial cells of the human detrusor

    DEFF Research Database (Denmark)

    Rasmussen, Helle; Hansen, Alastair; Smedts, Frank

    2007-01-01

    Interstitial cells of Cajal (ICC) are well described in the bowel wall. They are c-kit positive and play a role as pacemaker cells. Similar c-kit-positive cells have recently been described in the human bladder. The aim of this study was to characterize interstitial cells of the bladder detrusor...... using a panel of antibodies directed against CD117/c-kit, CD34, CD31, S100, tryptase, neurofilament, NSE, Factor-VIII and GFAP. A striking finding was an interstitial type of cell which is CD34 immunoreactive (CD34-ir) but CD117/c-kit negative. The cells have a tentacular morphology, enveloping...... and intermingling with individual muscle fasicles. Morphologically and immunohistochemically, they show no neurogenic, endothelial or mast cell differentiation. Transmission electron microscopy (TEM) showed the presence of interstitial cells with a round-to-oval nucleus, sparse perinuclear cytoplasm and long...

  14. CT in the diagnosis of interstitial lung disease

    International Nuclear Information System (INIS)

    Bergin, C.J.; Mueller, N.L.

    1985-01-01

    The computed tomographic (CT) appearance of interstitial lung disease was assessed in 23 patients with known interstitial disease. These included seven patients with fibrosing alveolitis, six with silicosis, two with hypersensitivity pneumonitis, three with lymphangitic spread of tumor, two with sarcoidosis, one with rheumatoid lung disease, and two with neurofibromatosis. The CT appearance of the interstitial changes in the different disease entities was assessed. Nodules were a prominent CT feature in silicosis, sarcoidosis, and lymphangitic spread of malignancy. Distribution of nodules and associated interlobular septal thickening provided further distinguishing features in these diseases. Reticular densities were the predominant CT change in fibrosing alveolitis, rheumatoid lung disease, and extrinsic allergic alveolitis. CT can be useful in the investigation of selected instances of interstitial pulmonary disease

  15. A new interstitial flatworm (Turbellaria: Promesostomidae) from the Indian Ocean

    NARCIS (Netherlands)

    Clerck, De G.G.

    1994-01-01

    Paraproboscifer alacerregis, representing a new genus and a new species of the interstitial typloplanoid flatworms is described from the Seychelles and Kenya. It is placed in the turbellarian family Promesostomidae, The type locality is on Mahé Island, Seychelles.

  16. Laparoscopic management of interstitial pregnancy with automatic stapler.

    Science.gov (United States)

    Ahsan Akhtar, Muhammad; Izzat, Feras; Keay, Stephen D

    2012-10-22

    A 36-year-old woman was referred by general practitioner to the early pregnancy unit with pelvic pain in her seventh week of pregnancy. She had a transvaginal ultrasound. Unruptured live twin tubal ectopic pregnancy was diagnosed on. Diagnostic laparoscopy revealed an unruptured left interstitial ectopic pregnancy. The interstitial tubal pregnancy was removed by laparoscopic automatic stapler with minimal blood loss. The patient had an uneventful recovery to health.

  17. Laparoscopic management of interstitial pregnancy with automatic stapler

    OpenAIRE

    Ahsan Akhtar, Muhammad; Izzat, Feras; Keay, Stephen D

    2012-01-01

    A 36-year-old woman was referred by general practitioner to the early pregnancy unit with pelvic pain in her seventh week of pregnancy. She had a transvaginal ultrasound. Unruptured live twin tubal ectopic pregnancy was diagnosed on. Diagnostic laparoscopy revealed an unruptured left interstitial ectopic pregnancy. The interstitial tubal pregnancy was removed by laparoscopic automatic stapler with minimal blood loss. The patient had an uneventful recovery to health.

  18. Interstitial ectopic pregnancy: A rare and difficult clinicosonographic diagnosis

    OpenAIRE

    R Rastogi; G L Meena; N Rastogi; V Rastogi

    2008-01-01

    Ectopic pregnancy in the interstitial part of the fallopian tube is a rare event. This condition presents a challenge for clinical as well as radiological diagnosis. Although routine two-dimensional ultrasound can be suggestive, three-dimensional ultrasound is highly accurate in diagnosis. Hence, the authors report a rare case of interstitial ectopic pregnancy diagnosed preoperatively by three-dimensional ultrasound and managed laparoscopically.

  19. Single dose methotrexate therapy: application to interstitial ectopic pregnancy.

    Science.gov (United States)

    Borgatta, L; Burnhill, M; Stubblefield, P

    1998-03-01

    A woman with a small (6-mm gestational sac) interstitial pregnancy had complete resolution after medical therapy alone. A single cycle of methotrexate 50 mg/m2 was used as outpatient treatment without any operative procedure either for diagnosis or intervention. The guidelines that have evolved for selection of women for single dose methotrexate treatment for both intrauterine and tubal ectopic pregnancies may be applicable to interstitial ectopic pregnancy as well. A suggested framework for treatment decisions is presented.

  20. Interstitial ectopic pregnancy: A rare and difficult clinicosonographic diagnosis

    Directory of Open Access Journals (Sweden)

    R Rastogi

    2008-01-01

    Full Text Available Ectopic pregnancy in the interstitial part of the fallopian tube is a rare event. This condition presents a challenge for clinical as well as radiological diagnosis. Although routine two-dimensional ultrasound can be suggestive, three-dimensional ultrasound is highly accurate in diagnosis. Hence, the authors report a rare case of interstitial ectopic pregnancy diagnosed preoperatively by three-dimensional ultrasound and managed laparoscopically.

  1. Interstitial ectopic pregnancy: A rare and difficult clinicosonographic diagnosis.

    Science.gov (United States)

    Rastogi, R; Gl, Meena; Rastogi, N; Rastogi, V

    2008-07-01

    Ectopic pregnancy in the interstitial part of the fallopian tube is a rare event. This condition presents a challenge for clinical as well as radiological diagnosis. Although routine two-dimensional ultrasound can be suggestive, three-dimensional ultrasound is highly accurate in diagnosis. Hence, the authors report a rare case of interstitial ectopic pregnancy diagnosed preoperatively by three-dimensional ultrasound and managed laparoscopically.

  2. The idiopathic interstitial pneumonias: understanding key radiological features

    Energy Technology Data Exchange (ETDEWEB)

    Dixon, S. [Department of Radiology, Churchill Hospital, Old Road, Oxford OX3 7LJ (United Kingdom); Benamore, R., E-mail: Rachel.Benamore@orh.nhs.u [Department of Radiology, Churchill Hospital, Old Road, Oxford OX3 7LJ (United Kingdom)

    2010-10-15

    Many radiologists find it challenging to distinguish between the different interstitial idiopathic pneumonias (IIPs). The British Thoracic Society guidelines on interstitial lung disease (2008) recommend the formation of multidisciplinary meetings, with diagnoses made by combined radiological, pathological, and clinical findings. This review focuses on understanding typical and atypical radiological features on high-resolution computed tomography between the different IIPs, to help the radiologist determine when a confident diagnosis can be made and how to deal with uncertainty.

  3. Seasonal Variation in Interstitial Fluid Quality of the Andoni Flats ...

    African Journals Online (AJOL)

    Physicochemical characteristics of the interstitial fluid of the sediment of the intertidal and subtidal zones of the Andoni flats were studied. The results for the interstitial fluid showed low dissolved oxygen levels (0.1 – 1.3mg/l), high temperature values (26.2 -32.4°C), wide salinity range (8 – 21ppt) and near neutral pH (6.26 ...

  4. New spacing material for interstitial implantation of radioactive seeds

    Energy Technology Data Exchange (ETDEWEB)

    Hammer, J.; Hawliczek, R.; Kaercher, K.H.R.; Riccabona, M.

    1989-01-01

    Poly-p-dioxanon sutures (PDS) have been common in surgery as an absorbable material for years. After hardening by a particular procedure we use PDS pins as spacer material in interstitial I-125 implantations. The advantages of PDS are the mechanical qualities in contrast to catgut which causes hazards because of its soft consistency. PDS supports the efforts in optimization of seed distribution and dose application in interstitial radiotherapy.

  5. Rheumatoid arthritis associated interstitial lung disease: a review

    Directory of Open Access Journals (Sweden)

    Deborah Assayag

    2014-04-01

    Full Text Available Rheumatoid arthritis is a common inflammatory disease affecting about 1% of the population. Interstitial lung disease is a serious and frequent complication of rheumatoid arthritis. Rheumatoid arthritis associated interstitial lung disease (RA-ILD is characterized by several histopathologic subtypes. This article reviews the proposed pathogenesis and risk factors for RA-ILD. We also outline the important steps involved in the work-up of RA-ILD and review the evidence for treatment and prognosis.

  6. Differential neutron cross section for free interstitial production in copper

    International Nuclear Information System (INIS)

    Goldstone, J.A.; Parkin, D.M.; Simpson, H.M.

    1979-01-01

    Free interstitials produced by monoenergetic neutrons were monitored by changes in Young's modulus of a vibrating foil specimen. These changes can be related to the number of pinners on dislocations which depends on the number of defects produced. The pinning rate is compared with displacement cross section calculations and agrees with the Norgett--Robinson--Torrens (NRT) model. Electron irradiations on the same sample yield estimates of the free interstitial production cross section to be approx. 1% of the NRT cross section

  7. Velocardiofacial syndrome in father and daughter: What is the mechanism for the deletion 22(q11.2q11.2) in only the daughter?

    Energy Technology Data Exchange (ETDEWEB)

    Magenis, R.E.; Gunter, K.; Toth-Fejel, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    E.G. had marked feeding difficulty noted at birth; the cause was determined to be a paralyzed palate. In 1992 chromosome studies were performed because of the provisional diagnosis of velocardiofacial syndrome, and a small interstitial deletion of chromosome 22 was found. Recently the family was seen in our Genetics Clinic. The father had unusual facial features shared by his daughter, a paralyzed upper lip and a history of repaired Tetralogy of Fallot. His chromosomes appeared normal. FISH studies were performed on the child`s peripheral blood using the ONCOR DiGeorge region probe (D22S75) and the deletion verified. However, the father`s chromosomes were not deleted for the ONCOR probe (D22S75) and probe DO832 sent to us by Peter Scambler. Skin cells were then obtained and no deletion was detected in a total of 66 cells examined using both probes. Several questions arise from these data: does the father have velocardiofacial syndrome? Does he have occult mosaicism? Does he have a molecular deletion not detected by the probes used? And was this deletion somehow {open_quotes}amplified{close_quotes} in his daughter?

  8. Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array CGH

    Science.gov (United States)

    Ichimura, Koichi; Mungall, Andrew J; Fiegler, Heike; Pearson, Danita M.; Dunham, Ian; Carter, Nigel P; Collins, V. Peter

    2009-01-01

    Deletions of chromosome 6 are a common abnormality in diverse human malignancies including astrocytic tumours, suggesting the presence of tumour suppressor genes (TSG). In order to help identify candidate TSGs, we have constructed a chromosome 6 tile path microarray. The array contains 1780 clones (778 PACs and 1002 BACs) that cover 98.3% of the published chromosome 6 sequences. A total of 104 adult astrocytic tumours (10 diffuse astrocytomas, 30 anaplastic astrocytomas (AA), 64 glioblastomas (GB)) were analysed using this array. Single copy number change was successfully detected and the result was in general concordant with a microsatellite analysis. The pattern of copy number change was complex with multiple interstitial deletions/gains. However, a predominance of telomeric 6q deletions was seen. Two small common and overlapping regions of deletion at 6q26 were identified. One was 1002 kb in size and contained PACRG and QKI, while the second was 199 kb and harbours a single gene, ARID1B. The data show that the chromosome 6 tile path array is useful in mapping copy number changes with high resolution and accuracy. We confirmed the high frequency of chromosome 6 deletions in AA and GB, and identified two novel commonly deleted regions that may harbour TSGs. PMID:16205629

  9. New insights into canted spiro carbon interstitial in graphite

    Science.gov (United States)

    EL-Barbary, A. A.

    2017-12-01

    The self-interstitial carbon is the key to radiation damage in graphite moderator nuclear reactor, so an understanding of its behavior is essential for plant safety and maximized reactor lifetime. The density functional theory is applied on four different graphite unit cells, starting from of 64 carbon atoms up to 256 carbon atoms, using AIMPRO code to obtain the energetic, athermal and mechanical properties of carbon interstitial in graphite. This study presents first principles calculations of the energy of formation that prove its high barrier to athermal diffusion (1.1 eV) and the consequent large critical shear stress (39 eV-50 eV) necessary to shear graphite planes in its presence. Also, for the first time, the gamma surface of graphite in two dimensions is calculated and found to yield the critical shear stress for perfect graphite. Finally, in contrast to the extensive literature describing the interstitial of carbon in graphite as spiro interstitial, in this work the ground state of interstitial carbon is found to be canted spiro interstitial.

  10. [Interstitial cystitis in urology clinic: current status and problems].

    Science.gov (United States)

    Nanri, Masaharu; Nanri, Masayuki; Nanri, Kazushige

    2014-10-01

    We examined the complications in the diagnosis and treatment of interstitial cystitis in daily clinical practice. The study included 82 patients who were suspected of having interstitial cystitis at our hospital from March 2002 to April 2013. All hydrodistention procedures were performed with the aid of an anesthesiologist, as recommended by the Ministry of Health, Labour, and Welfare since April 2010. Of the 82, 20 patients were male and 62 were female, (mean age at diagnosis 53 years.) Six of the suspected cases did not have interstitial cystitis. Of the 67 patients diagnosed with interstitial cystitis during hydrodistention, 29 (43%) did not experience pain. The time taken to diagnose these asymptomatic patients was longer than that taken for those who experienced pain. Twenty-eight patients (42%) discontinued treatment because it was ineffective. Interstitial cystitis has been widely recognized, but general physicians are unable to provide a diagnosis and suggest aggressive treatment because of difficulty associated in the treatment and diagnosis. To resolve these issues, physicians should be keep in mind that interstitial cystitis involves a hypersensitive bladder, and that some patients may not experience pain. Further, knowledge about Hunner's ulcer is essential. We believe that the most important points are improving health insurance about facility criteria of hydrodistention, and evaluating behavioral modification and dietary manipulation.

  11. Microstructures and phase transformations in interstitial alloys of tantalum

    International Nuclear Information System (INIS)

    Dahmen, U.

    1979-01-01

    The analysis of microstructures, phases, and possible ordering of interstitial solute atoms is fundamental to an understanding of the properties of metal-interstitial alloys in general. As evidenced by the controversies on phase transformations in the particular system tantalum--carbon, our understanding of this class of alloys is inferior to our knowledge of substitutional metal alloys. An experimental clarification of these controversies in tantalum was made. Using advanced techniques of electron microscopy and ultrahigh vacuum techology, an understanding of the microstructures and phase transformations in dilute interstitial tantalum--carbon alloys is developed. Through a number of control experiments, the role and sources of interstitial contamination in the alloy preparation (and under operating conditions) are revealed. It is demonstrated that all previously published work on the dilute interstitially ordered phase Ta 64 C can be explained consistently in terms of ordering of the interstitial contaminants oxygen and hydrogen, leading to the formation of the phases Ta 12 O and Ta 2 H

  12. Modeling of long-range migration of boron interstitials

    International Nuclear Information System (INIS)

    Velichko, O.I.; Burunova, O.N.

    2009-01-01

    A model of the interstitial migration of ion-implanted dopant in silicon during low-temperature thermal treatment has been formulated. It is supposed that the boron interstitials are created during ion implantation or at the initial stage of annealing. During thermal treatment a migration of these impurity interstitials to the surface and in the bulk of a semiconductor occurs. On this basis, a simulation of boron redistribution during thermal annealing for 35 minutes at a temperature of 800 0 C has been carried out. The calculated boron profile agrees well with the experimental data. A number of the parameters describing the interstitial diffusion have been derived. In particular, the average migration length of nonequilibrium boron interstitials is equal to 0.092 μm at a temperature of 800 0 C. To carry out modeling of ion-implanted boron redistribution, the analytical solutions of nonstationary diffusion equation for impurity interstitials have been obtained. The case of Dirichlet boundary conditions and the case of reflecting boundary on the surface of a semiconductor have been considered. (authors)

  13. Dose optimisation in single plane interstitial brachytherapy.

    Science.gov (United States)

    Tanderup, Kari; Hellebust, Taran Paulsen; Honoré, Henriette Benedicte; Nielsen, Søren Kynde; Olsen, Dag Rune; Grau, Cai; Lindegaard, Jacob Christian

    2006-10-01

    Brachytherapy dose distributions can be optimised by modulation of source dwell times. In this study dose optimisation in single planar interstitial implants was evaluated in order to quantify the potential benefit in patients. In 14 patients, treated for recurrent rectal and cervical cancer, flexible catheters were sutured intra-operatively to the tumour bed in areas with compromised surgical margin. Both non-optimised, geometrically and graphically optimised CT -based dose plans were made. The overdose index (OI), homogeneity index (HI), conformal index (COIN), minimum target dose, and high dose volumes were evaluated. The dependence of OI, HI, and COIN on target volume and implant regularity was evaluated. In addition, 12 theoretical implant configurations were analyzed. Geometrical and graphical optimisation improved the dose plans significantly with graphical optimisation being superior. Graphically optimised dose plans showed a significant decrease of 18%+/-9% in high dose volume (pusability of these parameters for comparison of dose plans between patients. Dwell time optimisation significantly improved the dose distribution regarding homogeneity, conformity, minimum target dose, and size of high dose volumes. Graphical optimisation is fast, reproducible and superior to geometric optimisation.

  14. Dose optimisation in single plane interstitial brachytherapy

    DEFF Research Database (Denmark)

    Tanderup, Kari; Hellebust, Taran Paulsen; Honoré, Henriette Benedicte

    2006-01-01

    BACKGROUND AND PURPOSE: Brachytherapy dose distributions can be optimised       by modulation of source dwell times. In this study dose optimisation in       single planar interstitial implants was evaluated in order to quantify the       potential benefit in patients. MATERIAL AND METHODS: In 14...... patients,       treated for recurrent rectal and cervical cancer, flexible catheters were       sutured intra-operatively to the tumour bed in areas with compromised       surgical margin. Both non-optimised, geometrically and graphically       optimised CT -based dose plans were made. The overdose index...... (OI),       homogeneity index (HI), conformal index (COIN), minimum target dose, and       high dose volumes were evaluated. The dependence of OI, HI, and COIN on       target volume and implant regularity was evaluated. In addition, 12       theoretical implant configurations were analyzed. RESULTS...

  15. Granular Material Flows with Interstitial Fluid Effects

    Science.gov (United States)

    Hunt, Melany L.; Brennen, Christopher E.

    2004-01-01

    The research focused on experimental measurements of the rheological properties of liquid-solid and granular flows. In these flows, the viscous effects of the interstitial fluid, the inertia of the fluid and particles, and the collisional interactions of the particles may all contribute to the flow mechanics. These multiphase flows include industrial problems such as coal slurry pipelines, hydraulic fracturing processes, fluidized beds, mining and milling operation, abrasive water jet machining, and polishing and surface erosion technologies. In addition, there are a wide range of geophysical flows such as debris flows, landslides and sediment transport. In extraterrestrial applications, the study of transport of particulate materials is fundamental to the mining and processing of lunar and Martian soils and the transport of atmospheric dust (National Research Council 2000). The recent images from Mars Global Surveyor spacecraft dramatically depict the complex sand and dust flows on Mars, including dune formation and dust avalanches on the slip-face of dune surfaces. These Aeolian features involve a complex interaction of the prevailing winds and deposition or erosion of the sediment layer; these features make a good test bed for the verification of global circulation models of the Martian atmosphere.

  16. Classical patterns of interstitial lung diseases

    International Nuclear Information System (INIS)

    Mueller-Mang, C.

    2014-01-01

    High resolution computed tomography (HRCT) is the most important non-invasive tool in the diagnostics and follow-up of patients with interstitial lung disease (ILD). A systematic review of the HRCT patterns of ILD was carried out and the most relevant differential diagnoses are discussed in order to provide a road map for the general radiologist to successfully navigate the complex field of ILD. Using HRCT four basic patterns of ILD can be identified: linear and reticular patterns, the nodular pattern, the high attenuation and low attenuation patterns. These patterns can be further differentiated according to their localization within the secondary pulmonary lobule (SPL), e.g. centrilobular or perilymphatic and their distribution within the lungs (e.g. upper or lower lobe predominance). Relevant clinical data, such as smoking history and course of the disease provide useful additional information in the diagnosis of ILD. On the basis of the pattern and anatomical distribution on HRCT, an accurate diagnosis can be achieved in some cases of ILD; however, due to morphological and clinical overlap the final diagnosis of many ILDs requires close cooperation between clinicians, radiologists and pathologists. (orig.) [de

  17. Magnetic effects of interstitial hydrogen in nickel

    Energy Technology Data Exchange (ETDEWEB)

    León, Andrea [Departamento de Física, Universidad Técnica Federico Santa María, Valparaíso (Chile); Velásquez, E.A. [Facultad de Física y Centro de Investigación en Nanotecnología y Materiales Avanzados CIEN-UC, Pontificia Universidad Católica de Chile, Santiago (Chile); Centro para el Desarrollo de la Nanociencia y la Nanotecnología CEDENNA, Santiago (Chile); Grupo de Investigación en Modelamiento y Simulación Computacional, Universidad de San Buenaventura Sec. Medellín, Medellín (Colombia); Mazo-Zuluaga, J. [Grupo de Instrumentación Científica y Microelectrónica, Grupo de Estado Sólido, IF-FCEN, Universidad de Antioquia UdeA, Calle 70 No. 52-21, Medellín (Colombia); Mejía-López, J. [Facultad de Física y Centro de Investigación en Nanotecnología y Materiales Avanzados CIEN-UC, Pontificia Universidad Católica de Chile, Santiago (Chile); Centro para el Desarrollo de la Nanociencia y la Nanotecnología CEDENNA, Santiago (Chile); Florez, J.M. [Departamento de Física, Universidad Técnica Federico Santa María, Valparaíso (Chile); and others

    2017-01-01

    Hydrogen storage in materials is among the most relevant fields when thinking about energy conversion and storage. In this work we present a study that responds to a couple of questions concerning induced electronic changes that H produces in ferromagnetic nickel (Ni) host. We calculate and explain the change of magnetic properties of Ni with different concentrations of H. Density functional theory calculations (DFT) were performed for super-cells of fcc Ni with interstitial H in octahedral sites at different concentrations. In order to physically explain the effect of magnetization diminishing as the hydrogen concentration increases, we propose a simple Stoner type of model to describe the influence of the H impurity on the magnetic properties of Ni. The exchange splitting reduction, as shown in first principles calculations, is clearly explained within this physical model. Using a paramagnetic Ni fcc band with variable number of electrons and a Stoner model allow us to obtain the correct trend for the magnetic moment of the system as a function of the H concentration. - Highlights: • We calculate and explain the change of magnetic properties of Ni with different concentrations of H. • We propose a simple Stoner type of model to describe the influence of the H impurity on the magnetic properties of Ni. • The band exchange splitting reduction as the H concentration increases, is a consequence of the competition between the band energy term (kinetic energy) and the ferromagnetic energy term (Weiss field).

  18. Renaissance of laser interstitial thermal ablation.

    Science.gov (United States)

    Missios, Symeon; Bekelis, Kimon; Barnett, Gene H

    2015-03-01

    Laser interstitial thermal therapy (LITT) is a minimally invasive technique for treating intracranial tumors, originally introduced in 1983. Its use in neurosurgical procedures was historically limited by early technical difficulties related to the monitoring and control of the extent of thermal damage. The development of magnetic resonance thermography and its application to LITT have allowed for real-time thermal imaging and feedback control during laser energy delivery, allowing for precise and accurate provision of tissue hyperthermia. Improvements in laser probe design, surgical stereotactic targeting hardware, and computer monitoring software have accelerated acceptance and clinical utilization of LITT as a neurosurgical treatment alternative. Current commercially available LITT systems have been used for the treatment of neurosurgical soft-tissue lesions, including difficult to access brain tumors, malignant gliomas, and radiosurgery-resistant metastases, as well as for the ablation of such lesions as epileptogenic foci and radiation necrosis. In this review, the authors aim to critically analyze the literature to describe the advent of LITT as a neurosurgical, laser excision tool, including its development, use, indications, and efficacy as it relates to neurosurgical applications.

  19. Acute interstitial nephritis induced by Dioscorea quinqueloba

    Science.gov (United States)

    2014-01-01

    Background The use of herbal medicine may be a risk factor for the development of kidney injury, as it has been reported to cause various renal syndromes. Dioscorea quinqueloba is a medicinal herb that is used as an alternative therapy for cardiovascular disease and various medical conditions. Case presentation A 52-year-old man was admitted with complaints of skin rash and burning sensation. He had ingested a raw extract of D. quinqueloba as a traditional remedy. Laboratory tests revealed the following values: absolute eosinophil count, 900/mm3; serum creatinine level, 2.7 mg/dL; and blood urea nitrogen, 33.0 mg/dL. The immunoglobulin E level was markedly increased at 1320.0 IU/mL. Urinalysis revealed a fractional excretion of sodium of 3.77%, protein 1+, and blood 3+. Histological examination of the renal biopsy specimen showed a diffusely edematous interstitium with infiltrates composed of eosinophils, lymphocytes, and neutrophils. Conclusion Here, we present the first reported case of biopsy-proven acute interstitial nephritis following ingestion of D. quinqueloba associated with skin rash, eosinophilia, and increased plasma immunoglobulin E level. PMID:25186588

  20. Palliative care and interstitial lung disease.

    Science.gov (United States)

    Bajwah, Sabrina; Yorke, Janelle

    2017-09-01

    The palliative care needs of people with interstitial lung disease (ILD) have recently been highlighted by the National Institute for Health and Care Excellence. All people with progressive ILD should receive best supportive care to improve symptom control and quality of life and where possible this should be evidence based. Deaths from ILD are increasing and deaths in hospital are more common compared to home. People with ILD experience a wide range of symptoms including breathlessness and cough. People living with ILD often suffer unmet physical and psychological needs throughout the disease journey. Few appropriately validated outcome measures exist for ILD which has hampered research on the longitudinal experience of symptoms and quality of life and the evaluation of interventions. Recent recommendations from the National Institute of Clinical Excellence promote the use of a new palliative care needs assessment tool. Use of a tool in busy respiratory clinics may help to highlight those requiring specialist input. Further research into the role of opioids, oxygen and neuromodulatory agents in symptom management are needed. In addition, exploration of breathlessness and case conference interventions in transitioning patients from the hospital to community settings is a priority. Further work is needed to identify a core set of validated ILD-specific patient-reported outcome measures for the robust evaluation of interventions.

  1. Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Paolo Prontera

    2017-09-01

    Full Text Available Moyamoya angiopathy (MA is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735. Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3−/− model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1. In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.

  2. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.

    Science.gov (United States)

    Ververi, Athina; Islam, Lily; Bewes, Beverley; Busby, Louise; Sullivan, Caroline; Canham, Natalie

    2017-01-01

    Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism. © 2017 S. Karger AG, Basel.

  3. Interstitial deletion 8p23.1-8p23.2 – a case report of a postnatal diagnosis

    OpenAIRE

    Ferreira, V.; Maciel, R.; Casanova, J.; Álvares, S.; Teles, N.; Freitas, M.; Rodrigues, M.C.; Mendes, M.J.

    2013-01-01

    Introdução: A deleção cromossómica 8p23 apresenta um espectro clínico variável que se deve à extensão da deleção ou da região do ponto de quebra do material genético. Caso clínico: Grávida de 23 semanas de gestação referenciada ao Centro de Diagnóstico Pré Natal por bradiarritmia fetal. A ecocardiografia fetal revelou anel pulmonar estreito e foramen oval grande. Parto eutócico às 40 semanas de gestação de um feto do sexo masculino e com peso abaixo do percentil 10. A ...

  4. 19 CFR 142.49 - Deletion of C-4 Code.

    Science.gov (United States)

    2010-04-01

    .... Entry filers may delete C-4 Codes from Line Release by notifying the port director in writing on a Deletion Data Loading Sheet. Such notification shall state the C-4 Code which is to be deleted, the port... TREASURY (CONTINUED) ENTRY PROCESS Line Release § 142.49 Deletion of C-4 Code. (a) By Customs. A port...

  5. 78 FR 17641 - Procurement List; Proposed Addition and Deletion

    Science.gov (United States)

    2013-03-22

    ... Addition and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Addition to and Deletion from the Procurement List. SUMMARY: The Committee is proposing to add a..., Washington, DC Deletion The following product is proposed for deletion from the Procurement List: Product...

  6. 46 CFR 67.171 - Deletion; requirement and procedure.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 2 2010-10-01 2010-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

  7. 78 FR 54871 - Procurement List; Proposed Additions and Deletion

    Science.gov (United States)

    2013-09-06

    ... Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed additions to and deletions from the Procurement List. SUMMARY: The Committee is proposing to add... by the Defense Commissary Agency. Deletion The following product is proposed for deletion from the...

  8. Interstitial Lung disease in Systemic Sclerosis

    International Nuclear Information System (INIS)

    Ooi, G.C.; Mok, M.Y.; Tsang, K.W.T.; Khong, P.L.; Fung, P.C.W.; Chan, S.; Tse, H.F.; Wong, R.W.S.; Lam, W.K.; Lau, C.S.; Wong, Y.

    2003-01-01

    Purpose: To evaluate high-resolution CT (HRCT) parameters of inflammation and fibrosis in systemic sclerosis (SSc), for correlation with lung function, skin scores and exercise tolerance. Material and Methods: : 45 SSc patients (40 women, 48.5±13.4 years), underwent thoracic HRCT, lung function assessment, and modified Rodnan skin scores. Exercise tolerance was also graded. HRCT were scored for extent of 4 HRCT patterns of interstitial lung disease (ILD): ground glass opacification (GGO), reticular, mixed and honeycomb pattern in each lobe. Total HRCT score, inflammation index (GGO and mixed score) and fibrosis index (reticular and honeycomb scores) were correlated with lung function and clinical parameters. Results: ILD was present in 39/45 (86.7%) patients. Abnormal (<80% predicted) forced vital capacity (FVC), total lung capacity (TLC) and carbon monoxide diffusion factor (DLco) were detected in 30%, 22% and 46% of patients. Total HRCT score correlated with FVC (r=0.43, p=0.008), FEV1 (forced expiratory volume) (r=-0.37, p=0.03), TLC (r=-0.47, p=0.003), and DLCO (r=-0.43, p=0.008); inflammatory index with DLCO (r=-0.43, p=0.008) and exercise tolerance (r=-0.39, p < 0.05); and fibrosis index with FVC (r=-0.31, p=0.05) and TLC (r=-0.38, p=0.02). Higher total HRCT score, and inflammation and fibrosis indices were found in patients with abnormal lung function. Conclusion: Qualitative HRCT is able to evaluate inflammation and fibrosis, showing important relationships with diffusion capacity and lung volume, respectively

  9. Co-morbidities of Interstitial Cystitis

    Directory of Open Access Journals (Sweden)

    Gisela eChelimsky

    2012-08-01

    Full Text Available Introduction: This study aimed to estimate the proportion of patients with Interstitial Cystitis/Painful Bladder Syndrome (IC/BPS with systemic dysfunction associated co-morbidities such as irritable bowel syndrome (IBS and fibromyalgia (FM. Material and Methods: Two groups of subjects with IC/BPS were included: 1 Physician diagnosed patients with IC/BPS and 2 Subjects meeting NIDDK IC/PBS criteria based on a questionnaire (ODYSA. These groups were compared to healthy controls matched for age and socio-economic status. NIDDK criteria required: pain with bladder filling that improves with emptying, urinary urgency due to discomfort or pain, polyuria > 11 times/24 hrs, and nocturia > 2 times/night. The ODYSA instrument evaluates symptoms pertaining to a range of disorders including chronic fatigue, orthostatic intolerance, syncope, IBS, dyspepsia, cyclic vomiting syndrome, headaches and migraines, sleep, Raynaud’s syndrome and chronic aches and pains. Results: IC/BPS was diagnosed in 26 subjects (mean age 47 +/- 16 yrs, 92% females, 58 had symptoms of IC/BPS by NIDDK criteria, (mean age 40 +/- 17 yrs, 79% females and 48 were healthy controls (mean age 31+/- 14 yrs, mean age 77%. Co-morbid complaints in the IC/BPS groups included gastrointestinal symptoms suggestive of IBS and dyspepsia, sleep abnormalities with delayed onset of sleep, feeling poorly refreshed in the morning, waking up before needed, snoring, severe chronic fatigue and chronic generalized pain, migraines and syncope. Discussion: Patients with IC/BPS had co-morbid central and autonomic nervous system disorders. Our findings mirror those of others in regard to IBS, symptoms suggestive of FM, chronic pain and migraine. High rates of syncope and functional dyspepsia found in the IC/BPS groups merit further study to determine if IC/BPS is part of a diffuse disorder of central, autonomic and sensory processing affecting multiple organs outside the bladder.

  10. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2

    Directory of Open Access Journals (Sweden)

    Peters Sarika U

    2006-02-01

    Full Text Available Abstract Background Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. Case presentation We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH. We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. Conclusion This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion.

  11. Conservative medical and surgical management of interstitial ectopic pregnancy.

    Science.gov (United States)

    Lau, S; Tulandi, T

    1999-08-01

    To review the definition and diagnosis of interstitial and heterotopic interstitial pregnancy and to evaluate the conservative management of these conditions. A MEDLINE computer search was used to identify relevant studies. The mean values for the duration of amenorrhea, serum beta-hCG level, size of the ectopic mass, and success rates of the various treatment modalities were calculated from the raw data in the original publications. A review of 41 patients with interstitial pregnancy who were treated with methotrexate systemically, locally, or in combination revealed an overall success rate of 83%. The mean duration of amenorrhea, mean serum beta-hCG level, and mean size of the ectopic mass were 54 days, 15,127 mIU/mL, and 23 mm, respectively. Among 22 patients with interstitial pregnancy who were treated with conservative laparoscopic techniques, the overall success rate was 100%. In this group, the mean duration of amenorrhea, mean serum beta-hCG level, and mean size of the ectopic mass were 54 days, 7,572 mIU/mL, and 31 mm, respectively. There were nine cases of heterotopic interstitial pregnancy. Seven patients were managed with potassium chloride injected into the ectopic pregnancy, and two patients were treated by laparoscopy. Overall, 67% of the coexisting intrauterine pregnancies resulted in successful deliveries and the remainder ended in spontaneous abortions. Cornual resection or hysterectomy with a laparotomy should no longer be the first line of treatment for a hemodynamically stable patient with an interstitial pregnancy. In selected cases, methotrexate and laparoscopy can be used successfully in treating early interstitial pregnancy.

  12. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    Science.gov (United States)

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. © 2015 S. Karger AG, Basel.

  13. Rapid deletion production in fungi via Agrobacterium mediated transformation of OSCAR deletion contructs.

    Science.gov (United States)

    Precise deletion of gene(s) of interest, while leaving the rest of the genome unchanged, provides the ideal product to determine that particular gene’s function in the living organism. In this protocol we describe the OSCAR method of precise and rapid deletion plasmid construction. OSCAR relies on t...

  14. Somatic mosaicism for a DMD gene deletion

    Energy Technology Data Exchange (ETDEWEB)

    Saito, Kayoko; Ikeya, Kiyoko; Kondo, Eri [Tokyo Women`s Medical College (Japan)] [and others

    1995-03-13

    Mosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocytochemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis showed a DMD gene deletion, upstream from exon 7 to the 5{prime} end containing both muscle and brain promoters. As the patient`s mother and elder sister had no deletions, he was considered to have a new mutation. Immunocytochemical studies of postmortem tissues showed that dystrophin was absent from the tongue, deltoid, intercostal, psoas and rectus femoris muscles, but there was a mix of dystrophin-positive and negative fibers in the rectus abdominis, cardiac, temporalis and sternocleidomastoid muscles. All diaphragm cells were dystrophin positive. Polymerase chain reaction (PCR) amplification from all tissues except the temporalis and sternocleidomastoid muscles, diaphragm and kidney, in which no deletion was found, showed the deletion from at least exon 6 to the 5{prime} end containing both muscle and brain promoters. In this case, a genomic deletion of the DMD gene contributed to the formation of tissues derived from both ectoderm and endoderm, and cells of mesodermal origin showed genotypic and phenotypic heterogeneity. Our results indicate a mutation of the present case may have occurred just before the period of germ layer formation. 34 refs., 7 figs.

  15. Interstitial pneumonitis after acetylene welding: a case report.

    Science.gov (United States)

    Brvar, Miran

    2014-01-01

    Acetylene is a colorless gas commonly used for welding. It acts mainly as a simple asphyxiant. In this paper, however, we present a patient who developed a severe interstitial pneumonitis after acetylene exposure during aluminum welding. A 44-year old man was welding with acetylene, argon and aluminum electrode sticks in a non-ventilated aluminum tank for 2 h. Four hours after welding dyspnea appeared and 22 h later he was admitted at the Emergency Department due to severe respiratory insufficiency with pO2 = 6.7 kPa. Chest X-ray showed diffuse interstitial infiltration. Pulmonary function and gas diffusion tests revealed a severe restriction (55% of predictive volume) and impaired diffusion capacity (47% of predicted capacity). Toxic interstitial pneumonitis was diagnosed and high-dose systemic corticosteroid methylprednisolone and inhalatory corticosteroid fluticasone therapy was started. Computed Tomography (CT) of the lungs showed a diffuse patchy ground-glass opacity with no signs of small airway disease associated with interstitial pneumonitis. Corticosteroid therapy was continued for the next 8 weeks gradually reducing the doses. The patient's follow-up did not show any deterioration of respiratory function. In conclusion, acetylene welding might result in severe toxic interstitial pneumonitis that improves after an early systemic and inhalatory corticosteroid therapy.

  16. Interstitial impurity interactions and dislocation microdynamics in Mo crystals

    International Nuclear Information System (INIS)

    Kwok, D.N.

    1975-05-01

    The effects of interstitial impurities on the mechanical properties of molybdenum are explored by comparing results obtained for crystals of various interstitial contents controlled by ultra-high vacuum outgassing. Results show a modulus reduction for as-grown samples and for outgassed specimens at low applied stresses. As a function of plastic microstrain, the values of modulus defect for both as-grown and outgassed specimens saturate at the same value. Interstitial impurities act as pinning agents to dislocation bowing, but when all the easy dislocation loops have broken away from local interstitial pins, the modulus defect reaches a constant saturation value. Etch pitting techniques were used to correlate microstrain observations with dislocation generation and motion. It has been found that edge dislocation generation and movement are active in the microstrain region while screw dislocations are relatively inactive until the macrostrain region is reached. Dislocation velocities range from 10 -6 to 10 -3 cm/s and the average distance between interstitial impurity pinning points is found to be approximately 8 x 10 -4 cm. (U.S.)

  17. Acute Abdomen in Interstitial Ectopic Pregnancy, An Emergency Laparoscopic Treatment

    Directory of Open Access Journals (Sweden)

    E. Picardo

    2014-01-01

    Full Text Available The present case report demonstrates a laparoscopic approach to treat interstitial cornual pregnancy in emergency. Interstitial ectopic pregnancy develops in the uterine portion of the fallopian tube which accounts for 2–4% of all ectopic pregnancies and has the potential to cause life-threatening hemorrhage at rupture. The mortality rate for a woman diagnosed with such a pregnancy is 2–2.5%. Diagnosis of interstitial pregnancy is made by ultrasound. In this case a 32 year-old woman, Gravida 0 Parity 0 Living 0 Ectopic 1, presented to the emergency obstetrical room complaining acute abdominal pain. There was a history of 10 weeks of pregnancy but no pelvic ultrasound scan was performed before the access. A transvaginal ultrasound scan immediately performed demonstrated a gestational sac with viable fetus in the right interstitial region. Moreover there was an ultrasound evidence of hemoperitoneum. She was transferred to the operating room and an emergency laparoscopy surgery was performed. The postoperative course was uneventful and the patient was discharged two days after the surgery. Interstitial pregnancies present a difficult management problem with no absolute standard of care in literature. Laparoscopic technique is under study with favorable results. For our personal point of view a treatment via laparoscopy could be performed both in elective and in emergency cases.

  18. Smoking-related interstitial lung diseases: radiologic-pathologic correlation

    International Nuclear Information System (INIS)

    Hidalgo, Alberto; Franquet, Tomas; Gimenez, Ana; Pineda, Rosa; Madrid, Marta; Bordes, Ramon

    2006-01-01

    Smoking-related interstitial lung diseases (SRILD) are a heterogeneous group of entities of unknown cause. These diseases include desquamative interstitial pneumonia (DIP), respiratory-bronchiolitis-related interstitial lung disease (RB-ILD), pulmonary Langerhans' cell histiocytosis (LCH) and idiopathic pulmonary fibrosis (IPF). High-resolution CT is highly sensitive in the detection of abnormalities in the lung parenchyma and airways. Ground-glass attenuation can occur in DIP and RB-ILD. Whereas DIP is histologically characterized by intra-alveolar pigmented macrophages, RB-ILD shows alveolar macrophages in a patchy peribronchiolar distribution. LCH shows nodular infiltrates on histopathological examination containing varying amounts of characteristic Langerhans' histiocytes. The HRCT findings are characteristically bilateral, symmetrical and diffuse, involving the upper lobe zones with sparing of the costophrenic angles. The most prominent CT features are nodules (sometimes cavitary) measuring 1 to 10 mm in diameter, cysts and areas of ground-glass attenuation. Pathologically, IPF is characterized by its heterogeneity with areas of normal clung, alveolitis and end-stage fibrosis shown in the same biopsy specimen. High-resolution CT findings consist of honeycombing, traction bronchiectasis and intralobular interstitial thickening with subpleural and lower lung predominance. Since coexisting lesions in the same cases have been observed, a better understanding of the different smoking-related interstitial lung diseases (SRILD) allows a more confident and specific diagnosis. (orig.)

  19. Interstitial pneumonitis after acetylene welding: A case report

    Directory of Open Access Journals (Sweden)

    Miran Brvar

    2014-02-01

    Full Text Available Acetylene is a colorless gas commonly used for welding. It acts mainly as a simple asphyxiant. In this paper, however, we present a patient who developed a severe interstitial pneumonitis after acetylene exposure during aluminum welding. A 44-year old man was welding with acetylene, argon and aluminum electrode sticks in a non-ventilated aluminum tank for 2 h. Four hours after welding dyspnea appeared and 22 h later he was admitted at the Emergency Department due to severe respiratory insufficiency with pO2 = 6.7 kPa. Chest X-ray showed diffuse interstitial infiltration. Pulmonary function and gas diffusion tests revealed a severe restriction (55% of predictive volume and impaired diffusion capacity (47% of predicted capacity. Toxic interstitial pneumonitis was diagnosed and high-dose systemic corticosteroid methylprednisolone and inhalatory corticosteroid fluticasone therapy was started. Computed Tomography (CT of the lungs showed a diffuse patchy ground-glass opacity with no signs of small airway disease associated with interstitial pneumonitis. Corticosteroid therapy was continued for the next 8 weeks gradually reducing the doses. The patient's follow-up did not show any deterioration of respiratory function. In conclusion, acetylene welding might result in severe toxic interstitial pneumonitis that improves after an early systemic and inhalatory corticosteroid therapy.

  20. Smoking-related interstitial lung diseases: radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Hidalgo, Alberto [Universidad Autonoma de Barcelona, Department of Radiology, Hospital de Sant Pau, Barcelona (Spain); Hospital de la Santa Creu i Sant Pau, Thoracic Radiology, Department of Radiology, Barcelona (Spain); Franquet, Tomas; Gimenez, Ana; Pineda, Rosa; Madrid, Marta [Universidad Autonoma de Barcelona, Department of Radiology, Hospital de Sant Pau, Barcelona (Spain); Bordes, Ramon [Universidad Autonoma de Barcelona, Department of Pathology, Hospital de Sant Pau, Barcelona (Spain)

    2006-11-15

    Smoking-related interstitial lung diseases (SRILD) are a heterogeneous group of entities of unknown cause. These diseases include desquamative interstitial pneumonia (DIP), respiratory-bronchiolitis-related interstitial lung disease (RB-ILD), pulmonary Langerhans' cell histiocytosis (LCH) and idiopathic pulmonary fibrosis (IPF). High-resolution CT is highly sensitive in the detection of abnormalities in the lung parenchyma and airways. Ground-glass attenuation can occur in DIP and RB-ILD. Whereas DIP is histologically characterized by intra-alveolar pigmented macrophages, RB-ILD shows alveolar macrophages in a patchy peribronchiolar distribution. LCH shows nodular infiltrates on histopathological examination containing varying amounts of characteristic Langerhans' histiocytes. The HRCT findings are characteristically bilateral, symmetrical and diffuse, involving the upper lobe zones with sparing of the costophrenic angles. The most prominent CT features are nodules (sometimes cavitary) measuring 1 to 10 mm in diameter, cysts and areas of ground-glass attenuation. Pathologically, IPF is characterized by its heterogeneity with areas of normal clung, alveolitis and end-stage fibrosis shown in the same biopsy specimen. High-resolution CT findings consist of honeycombing, traction bronchiectasis and intralobular interstitial thickening with subpleural and lower lung predominance. Since coexisting lesions in the same cases have been observed, a better understanding of the different smoking-related interstitial lung diseases (SRILD) allows a more confident and specific diagnosis. (orig.)

  1. 9q22 Deletion - First Familial Case

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    Yamamoto Toshiyuki

    2011-06-01

    Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

  2. Deletion 22q13.3 syndrome

    Directory of Open Access Journals (Sweden)

    Phelan Mary C

    2008-05-01

    Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

  3. Comparison of an interstitial cystitis/bladder pain syndrome clinical cohort with symptomatic community women from the RAND Interstitial Cystitis Epidemiology study.

    Science.gov (United States)

    Konkle, Katy S; Berry, Sandra H; Elliott, Marc N; Hilton, Lara; Suttorp, Marika J; Clauw, Daniel J; Clemens, J Quentin

    2012-02-01

    The RAND Interstitial Cystitis Epidemiology survey estimated that 2.7% to 6.5% of United States women have urinary symptoms consistent with a diagnosis of interstitial cystitis/bladder pain syndrome. We describe the demographic and clinical characteristics of the symptomatic community based RAND Interstitial Cystitis Epidemiology cohort, and compare them with those of a clinically based interstitial cystitis/bladder pain syndrome cohort. Subjects included 3,397 community women who met the criteria for the RAND Interstitial Cystitis Epidemiology high sensitivity case definition, and 277 women with an interstitial cystitis/bladder pain syndrome diagnosis recruited from specialist practices across the United States (clinical cohort). Questions focused on demographic information, symptom severity, quality of life indicators, concomitant diagnoses and treatment. Average symptom duration for both groups was approximately 14 years. Women in the clinical cohort reported worse baseline pain and maximum pain, although the absolute differences were small. Mean Interstitial Cystitis Symptom Index scores were approximately 11 for both groups, but mean Interstitial Cystitis Problem Index scores were 9.9 and 13.2 for the clinical cohort and the RAND Interstitial Cystitis Epidemiology cohort, respectively (p Interstitial Cystitis Epidemiology subjects were more likely to be uninsured. The RAND Interstitial Cystitis Epidemiology community cohort was remarkably similar to an interstitial cystitis/bladder pain syndrome clinical cohort with respect to demographics, symptoms and quality of life measures. In contrast to other chronic pain conditions for which clinical cohorts typically report worse symptoms and functional status than population based samples, our data suggest that many measures of symptom severity and functional impact are similar, and sometimes worse, in the RAND Interstitial Cystitis Epidemiology cohort. These findings suggest that interstitial cystitis/bladder pain

  4. Some analogies between quantum cloning and quantum deleting

    International Nuclear Information System (INIS)

    Qiu Daowen

    2002-01-01

    We further verify the impossibility of deleting an arbitrary unknown quantum state, and also show it is impossible to delete two nonorthogonal quantum states as a consequence of unitarity of quantum mechanics. A quantum approximate (deterministic) deleting machine and a probabilistic (exact) deleting machine are constructed. The estimation for the global fidelity characterizing the efficiency of the quantum approximate deleting is given. We then demonstrate that unknown nonorthogonal states chosen from a set with their multiple copies can evolve into a linear superposition of multiple deletions and failure branches by a unitary process if and only if the states are linearly independent. It is notable that the proof for necessity is somewhat different from Pati's [Phys. Rev. Lett. 83, 2849 (1999)]. Another deleting machine for the input states that are unnecessarily linearly independent is also presented. The bounds on the success probabilities of these deleting machines are derived. So we expound some preliminary analogies between quantum cloning and deleting

  5. Concurrent interstitial ectopic pregnancy and appendicitis: a case report.

    Science.gov (United States)

    Biggs, R Lee; Magann, Everett F; O'Boyle, John D

    2008-05-01

    Concurrent ectopic pregnancy and acute appendicitis is rarely encountered. Since 1960, only 22 cases have been reported. No case of concurrent interstitial ectopic pregnancy and appendicitis has ever been reported. A 24-year-old, African American woman, gravida 4, para 3, had a right interstitial ectopic pregnancy. She was managed as an inpatient with parenteral methotrexate and her beta-human chorionic gonadotropin level decreased appropriately. She was discharged 3 days after treatment but subsequently returned with right lower quadrant pain, nausea, vomiting and fever. The patient underwent laparoscopy with removal of a suppurative appendix. A stable interstitial ectopic pregnancy was visualized and left in situ. The discipline to consider concomitant abdominal pathology is paramount. The perceived rarity of an ectopic pregnancy and appendicitis should not obscure a thorough clinical evaluation.

  6. Eccentrically located intrauterine pregnancy misdiagnosed as interstitial ectopic pregnancy.

    Science.gov (United States)

    Ash, Adam; Ko, Patrick; Dewar, Christopher; Raio, Christopher

    2010-12-01

    This is a case report of an eccentrically located intrauterine pregnancy initially diagnosed as an interstitial ectopic pregnancy. Although interstitial ectopic pregnancy represents a well-known pitfall in first-trimester sonography, the common error is to misidentify the ectopic pregnancy as intrauterine, not the reverse. Such an error is potentially catastrophic because it may lead to the inadvertent termination of a viable pregnancy. Although the role of ultrasonography for evaluation of ectopic pregnancy is well established, its diagnostic accuracy for interstitial ectopic pregnancy remains uncertain. Because of this, sonographic findings should be considered suggestive, but not diagnostic, in this setting. Copyright © 2010 American College of Emergency Physicians. Published by Mosby, Inc. All rights reserved.

  7. The behaviour of stacking fault energy upon interstitial alloying.

    Science.gov (United States)

    Lee, Jee-Yong; Koo, Yang Mo; Lu, Song; Vitos, Levente; Kwon, Se Kyun

    2017-09-11

    Stacking fault energy is one of key parameters for understanding the mechanical properties of face-centered cubic materials. It is well known that the plastic deformation mechanism is closely related to the size of stacking fault energy. Although alloying is a conventional method to modify the physical parameter, the underlying microscopic mechanisms are not yet clearly established. Here, we propose a simple model for determining the effect of interstitial alloying on the stacking fault energy. We derive a volumetric behaviour of stacking fault energy from the harmonic approximation to the energy-lattice curve and relate it to the contents of interstitials. The stacking fault energy is found to change linearly with the interstitial content in the usual low concentration domain. This is in good agreement with previously reported experimental and theoretical data.

  8. Crohn's disease: ultrastructure of interstitial cells in colonic myenteric plexus

    DEFF Research Database (Denmark)

    Rumessen, Jüri Johs.; Vanderwinden, Jean-Marie; Horn, Thomas

    2011-01-01

    -MP and other interstitial cells in the myenteric region of the colon are lacking for CD. In the present study, we characterized the ultrastructure of interstitial cells, nerves, and glial cells in the myenteric region in Crohn's colitis (CC). In comparison with controls, varicosities of the myenteric bundles...... were dilated and appeared to be empty. Lipid droplets and lipofuscin-bodies were prominent in glial cells and neurons. ICC-MP were scanty but, as in controls, had caveolae, prominent intermediate filaments, cytoplasmic dense bodies, and membrane-associated dense bands with a patchy basal lamina. ICC......The role of the interstitial cells of Cajal (ICC) in chronic inflammatory bowel disease, i.e., ulcerative colitis (UC) and Crohn's disease (CD), remains unclear. Ultrastructural alterations in ICC in the colonic myenteric plexus (ICC-MP) have been reported previously in UC, but descriptions of ICC...

  9. What is new in bladder pain syndrome/interstitial cystitis?

    DEFF Research Database (Denmark)

    Hanno, P.; Nordling, J.; Ophoven, A. van

    2008-01-01

    Purpose of review Bladder pain syndrome/interstitial cystitis is an important and poorly understood disorder. This review highlights current research findings that may be of benefit to the clinician who is responsible for the diagnosis and treatment of patients who suffer from this condition....... Recent findings The perspective from which we view bladder pain syndrome/interstitial cystitis is evolving, as is apparent in the literature this year. It is best perceived as one of many chronic pain syndromes, some of which may be related. International efforts aimed at consistent definition...... the world. In this review we hope to bring practicing healthcare providers up to date with the literature on bladder pain syndrome/interstitial cystitis, and the implications for their patients Udgivelsesdato: 2008/7...

  10. Role of inflammation in bladder function and interstitial cystitis

    Science.gov (United States)

    Grover, Sonal; Srivastava, Abhishek; Lee, Richard; Tewari, Ashutosh K.; Te, Alexis E.

    2011-01-01

    Cystitis, or inflammation of the bladder, has a direct effect on bladder function. Interstitial cystitis is a syndrome characterized by urinary bladder pain and irritative symptoms of more than 6 months duration. It commonly occurs in young to middle-aged women with no known cause and in fact represents a diagnosis of exclusion. Many factors have been suggested, including chronic or subclinical infection, autoimmunity and genetic susceptibility, which could be responsible for initiating the inflammatory response. However, a central role of inflammation has been confirmed in the pathogenesis of interstitial cystitis. Patients with interstitial cystitis are usually managed with multimodal therapy to break the vicious cycle of chronic inflammation at every step. Patients who develop irreversible pathologies such as fibrosis are managed surgically, which is usually reserved for refractory cases. PMID:21789096

  11. Acute ciprofloxacin-induced crystal nephropathy with granulomatous interstitial nephritis

    Directory of Open Access Journals (Sweden)

    R Goli

    2017-01-01

    Full Text Available Crystal-induced acute kidney injury (AKI is caused by the intratubular precipitation of crystals, which results in obstruction and kidney injury. Ciprofloxacin, a commonly used antibiotic, causes AKI secondary to immune-mediated interstitial injury. Rare mechanisms of ciprofloxacin-induced renal injury include crystalluria, rhabdomyolysis, and granulomatous interstitial nephritis. Clinical and experimental studies have suggested that crystalluria and crystal nephropathy due to ciprofloxacin occur in alkaline urine. Preexisting kidney function impairment, high dose of the medication, and advanced age predispose to this complication. We report a case of ciprofloxacin-induced crystal nephropathy and granulomatous interstitial nephritis in a young patient with no other predisposing factors. The patient responded to conservative treatment without the need for glucocorticoids.

  12. Interstitial integrals in the multiple-scattering model

    International Nuclear Information System (INIS)

    Swanson, J.R.; Dill, D.

    1982-01-01

    We present an efficient method for the evaluation of integrals involving multiple-scattering wave functions over the interstitial region. Transformation of the multicenter interstitial wave functions to a single center representation followed by a geometric projection reduces the integrals to products of analytic angular integrals and numerical radial integrals. The projection function, which has the value 1 in the interstitial region and 0 elsewhere, has a closed-form partial-wave expansion. The method is tested by comparing its results with exact normalization and dipole integrals; the differences are 2% at worst and typically less than 1%. By providing an efficient means of calculating Coulomb integrals, the method allows treatment of electron correlations using a multiple scattering basis set

  13. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Crowley, Blaine; Ruffner, Melanie; McDonald McGinn, Donna M; Sullivan, Kathleen E

    2018-01-17

    The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The relationship of the immunodeficiency to the deletion breakpoints has been understudied due to the infrequent analysis of people carrying smaller deletions. This manuscript will review the immune deficiency in 22q11.2 deletion syndrome and describe differences in the T cell counts related to the deletion breakpoints. Distal, non-TBX1 inclusive deletions, were found to be associated with better T cell counts. Another new finding is the relative preservation of T cell counts in those patients with a 22q11.2 duplication. © 2018 Wiley Periodicals, Inc.

  14. Renal Protection by Genetic Deletion of the Atypical Chemokine Receptor ACKR2 in Diabetic OVE Mice

    Directory of Open Access Journals (Sweden)

    Shirong Zheng

    2016-01-01

    Full Text Available In diabetic nephropathy (DN proinflammatory chemokines and leukocyte infiltration correlate with tubulointerstitial injury and declining renal function. The atypical chemokine receptor ACKR2 is a chemokine scavenger receptor which binds and sequesters many inflammatory CC chemokines but does not transduce typical G-protein mediated signaling events. ACKR2 is known to regulate diverse inflammatory diseases but its role in DN has not been tested. In this study, we utilized ACKR2−/− mice to test whether ACKR2 elimination alters progression of diabetic kidney disease. Elimination of ACKR2 greatly reduced DN in OVE26 mice, an established DN model. Albuminuria was significantly lower at 2, 4, and 6 months of age. ACKR2 deletion did not affect diabetic blood glucose levels but significantly decreased parameters of renal inflammation including leukocyte infiltration and fibrosis. Activation of pathways that increase inflammatory gene expression was attenuated. Human biopsies stained with ACKR2 antibody revealed increased staining in diabetic kidney, especially in some tubule and interstitial cells. The results demonstrate a significant interaction between diabetes and ACKR2 protein in the kidney. Unexpectedly, ACKR2 deletion reduced renal inflammation in diabetes and the ultimate response was a high degree of protection from diabetic nephropathy.

  15. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

    Science.gov (United States)

    Varela, Monica Castro; Kok, Fernando; Otto, Paulo Alberto; Koiffmann, Celia Priszkulnik

    2004-12-01

    Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. Here, we describe the phenotypic and behavioral variability detected in 49 patients with different classes of deletions and nine patients with UPD. Diagnosis was made by methylation pattern analysis of exon 1 of the SNRPN-SNURF gene and by microsatellite profiling of loci within and outside the 15q11-q13 region. There were no major phenotypic differences between the two main classes (BP1-BP3; BP2-BP3) of AS deletion patients, except for the absence of vocalization, more prevalent in patients with BP1-BP3 deletions, and for the age of sitting without support, which was lower in patients with BP2-BP3 deletions. Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning. Compared to UPD patients, deletion patients presented a higher incidence of swallowing disorders (73.9% del x 22.2% UPD) and hypotonia (73.3% del x 28.57% UPD). In addition, children with UPD showed better physical growth, fewer or no seizures, a lower incidence of microcephaly, less ataxia and higher cognitive skills. As a consequence of their milder or less typical phenotype, AS may remain undiagnosed, leading to an overall underdiagnosis of the disease.

  16. Gynecological disorders in bladder pain syndrome/interstitial cystitis patients.

    Science.gov (United States)

    Cervigni, Mauro; Natale, Franca

    2014-04-01

    Bladder pain syndrome/interstitial cystitis, a chronic inflammatory condition of the bladder, is the source of pain in over 30% of female patients with chronic pelvic pain. The aim of the present study was to evaluate the most frequent associations between bladder pain syndrome/interstitial cystitis and gynecological disorders. A literature review of the previous 10 years was carried out to evaluate the incidence of gynecological diseases in patients with bladder pain syndrome/interstitial cystitis. Hypertonic pelvic floor dysfunction with associated voiding dysfunction can be present in bladder pain syndrome/interstitial cystitis patients. It has been estimated that the prevalence ranges from 50% to 87%. Endometriosis affects 1-7% of the general population and up to 70% of women with endometriosis have some type of pain symptoms, a recent systematic review estimated the prevalence of bladder pain syndrome to be 61%, of endometriosis to be 70%, and coexisting bladder pain syndrome and endometriosis to be 48%. Vulvodynia is represented by pain, or an unpleasant altered sensation, in the vulva. Women with vestibulodynia are likely to have other additional pain conditions, such as fibromyalgia, irritable bowel syndrome or chronic fatigue syndrome. Recent data reported that vestibulodynia affects 25% of women with bladder pain syndrome/interstitial cystitis. Bladder pain syndrome/interstitial cystitis is a complex pathology often associated with vulvodynia, endometriosis and pelvic floor dysfunctions. Therefore, it is of utmost importance to obtain an accurate evaluation ruling out confusable disease, such as pudendal neuropathy. The optimal approach is a combined treatment oriented not only to treat the bladder, but also the other components responsible for the pain disorder. © 2014 The Japanese Urological Association.

  17. Lung lobar volume in patients with chronic interstitial pneumonia

    International Nuclear Information System (INIS)

    Harada, Hisao; Koba, Hiroyuki; Saitoh, Tsukasa; Abe, Shosaku.

    1997-01-01

    We measured lung lobar volume by using helical computed tomography (HCT) in 23 patients with idiopathic interstitial pneumonia (IIP), 7 patients with chronic interstitial pneumonia associated with collagen vascular disease (CVD-IP), and 5 healthy volunteers HCT scanning was done at the maximal inspiratory level and the resting end-expiratory level. To measure lung lobar volume, we traced the lobar margin on HCT images with a digitizer and calculated the lobar volume with a personal computer. The lower lobar volume and several factors influencing it in chronic interstitial pneumonia were studied. At the maximal inspiratory level, the lower lobar volume as a percent of the whole lung volume was 46.8±4.13% (mean ± SD) in the volunteers, 39.5±6.19% in the patients with IIP, and 27.7±7. 86% in the patients with CVD-IP. The lower lobar volumes in the patients were significantly lower than in the volunteers. Patients with IIP in whom autoantibody tests were positive had lower lobar volumes that were very low and were similar to those of patients with CVD-IP. These data suggest that collagen vascular disease may develop in patients with interstitial pneumonia. The patients with IIP who had emphysematous changes on the CT scans had smaller decreases in total lung capacity and lower ratios of forced expiratory volume in one second to forced vital capacity than did those who had no emphysematous changes, those two groups did not differ in the ratio of lower lobar volume to whole lung volume. This suggests that emphysematous change is not factor influencing lower lobar volume in patients with chronic interstitial pneumonia. We conclude that chronic interstitial pneumonia together with very low values for lower lobar volume may be a pulmonary manifestation of collagen vascular disease. (author)

  18. Pulmonary interstitial emphysema in neonates -reporting of 11 cases

    International Nuclear Information System (INIS)

    Alvares, Beatriz Regina; Santos Mezzacappa, Maria Aparecida dos; Marba, Sergio Tadeu Martins

    1997-01-01

    The present paper relates the radiologic and clinical aspects of pulmonary interstitial emphysema in 11 infants submitted to assisted ventilation. The radiologic diagnosis was made using the classification of Boothroyd and Barson (levels I to III). A prevalence of pulmonary interstitial emphysema of levels II and III was observed in masculine premature infants with hyaline membrane disease and intrauterine pneumonia. Mortality was high and occurred in the infants with advanced levels of the disease. The authors emphasize the importance of early radiologic diagnosis of this condition during the treatment of premature infants submitted to assisted ventilation. (author)

  19. Ultrasound diagnosis and laparoscopic excision of an interstitial ectopic pregnancy.

    Science.gov (United States)

    Wood, C; Hurley, V

    1992-11-01

    Interstitial tubal pregnancy occurs in about 5% of ectopic tubal pregnancies and is associated with an increased risk of severe haemorrhage (1). Diagnosis prior to rupture of the pregnancy into the peritoneal cavity is very important to avoid haemorrhage. Its presence has been considered to be a contraindication to laparoscopic surgery (2), although most ectopic pregnancies can be managed laparoscopically by an experienced endoscopist. We report the diagnosis of an interstitial pregnancy by ultrasound before rupture and treatment by laparoscopic excision of the pregnancy.

  20. Unilateral twin interstitial ectopic pregnancy. A case report.

    Science.gov (United States)

    Starks, G C

    1980-08-01

    An unusual case of twin unilateral interstitial pregnancy with premature rupture of membranes and leiomyomata uteri is described. A review of the literature reveals only two previous cases of this type. On admission, the patient was diagnosed as having an intrauterine pregnancy of 27 weeks' gestation, with documented premature rupture of the membranes having occurred. An ultrasound was performed revealing a fibroid uterus, an anterior placenta and an gestation. Septicemia ensued, and antibiotics plus pitocin was begun; however, no uterine response occurred. A culdocentesis revealed free intraabdominal blood. Laparotomy followed, revealing a ruptured twin interstitial pregnancy with placenta accreta and leiomyomata of the uterus.

  1. Interstitial cells in the musculature of the gastrointestinal tract

    DEFF Research Database (Denmark)

    Rumessen, Jüri J; Vanderwinden, Jean-Marie

    2003-01-01

    "non-Cajal" (including the FLC and possibly also other cell types) cell types in the interstitium of the smooth musculature of the gastrointestinal tract, is proposed. Furthermore, evidence is accumulating to suggest that, as postulated by Santiago Ramon y Cajal, the concept of interstitial cells......Expression of the receptor tyrosine kinase KIT on cells referred to as interstitial cells of Cajal (ICC) has been instrumental during the past decade in the tremendous interest in cells in the interstitium of the smooth muscle layers of the digestive tract. ICC generate the pacemaker component...

  2. [The interstitial pregnancy. Report of three observations (author's transl)].

    Science.gov (United States)

    Dubuisson, J B; Henrion, R

    1979-01-01

    The recent occurrence at the Port-Royal obstetrics and gynaecology center of three cases of interstitial pregnancy out of a total number of 208 ectopic pregnancies give us the opportunity to discuss the diagnosis and present management of the rarest form of tubal pregnancies. The diagnosis is always difficult. Nowadays, thanks to the use of echography and especially of laparoscopy, interstitial pregnancies can be detected earlier. Thus the precocity of the diagnosis should permit a conservative surgical treatment. Hysterectomy should not be considered but in very special cases.

  3. Global concepts of bladder pain syndrome (interstitial cystitis)

    DEFF Research Database (Denmark)

    Nordling, Jørgen; Fall, Magnus; Hanno, Philip

    2012-01-01

    Bladder pain syndrome (BPS), commonly referred to as "interstitial cystitis", is no longer considered a rare disorder. It may affect up to 2.7% of the adult female population (Ueda et al. in Int J Urol 10:1-70, 2003) with up to 20% of cases occurring in men.......Bladder pain syndrome (BPS), commonly referred to as "interstitial cystitis", is no longer considered a rare disorder. It may affect up to 2.7% of the adult female population (Ueda et al. in Int J Urol 10:1-70, 2003) with up to 20% of cases occurring in men....

  4. Urinary Microbiome and Cytokine Levels in Women With Interstitial Cystitis.

    Science.gov (United States)

    Abernethy, Melinda G; Rosenfeld, Amy; White, James R; Mueller, Margaret G; Lewicky-Gaupp, Christina; Kenton, Kimberly

    2017-03-01

    To investigate differences in the urinary microbiome and cytokine levels between women with and without interstitial cystitis and to correlate differences with scores on standardized symptom severity scales and depression and anxiety screening tools. Our cross-sectional study compared women presenting to a pelvic floor clinic and diagnosed with interstitial cystitis over a 6-month period with age-matched women in a control group from the same institution. Participants provided a catheterized urine sample and completed symptom severity, quality-of-life, depression, and anxiety screening questionnaires. Urinary microbiomes generated through bacterial ribosomal RNA sequencing and cytokine levels were analyzed using a standard immunoassay. Nonparametric analyses were used for all comparisons. Participants with interstitial cystitis reported more disability, bothersome urinary symptoms, genitourinary pain, and sexual dysfunction and scored higher on depression and anxiety screens compared with women in the control group. The urine of participants with interstitial cystitis contained fewer distinct operational taxonomic units (2 [median range 2-7, interquartile range 1] compared with 3.5 [median, range 2-22, interquartile range 5.25], P=.015) and was less likely to contain Lactobacillus acidophilus (1/14 [7%] compared with 7/18 [39%], P=.05) compared with women in the control group. L acidophilus was associated with less severe scores on the Interstitial Cystitis Symptoms Index (1 [median, range 0-17, interquartile range 5] compared with 10 [median, range 0-14, interquartile range 11], P=.005) and the Genitourinary Pain Index (0 [median, range 0-42, interquartile range 22] compared with 22.5 [median, range 0-40, interquartile range 28], P=.03). Participants with interstitial cystitis demonstrated higher levels of macrophage-derived chemokine (13.32 [median, range 8.93-17.05, interquartile range 15.86] compared with 0 [median, range 8.93-22.67, interquartile range 10

  5. Painful bladder syndrome/interstitial cystitis: Aetiology, evaluation and management

    Directory of Open Access Journals (Sweden)

    William Rourke

    2014-06-01

    Full Text Available Interstitial cystitis or bladder pain syndrome (BPS is often a chronic debilitating condition characterised by predominantly storage symptoms and associated frequently with pelvic pain that varies with bladder filling. The aetiology is uncertain as the condition occurs in the absence of a urinary tract infection or other obvious pathology. Resulting discomfort may vary and ranges from abdominal tenderness to intense bladder spasms. Diagnosis and management of this syndrome may be difficult and is often made by its typical cystoscopic features. This review discusses the diagnosis and management of interstitial cystitis according to the current available best evidence and advises a multimodal approach in its management.

  6. A role for MCP-1/CCR2 in interstitial lung disease in children

    Directory of Open Access Journals (Sweden)

    Reinhardt Dietrich

    2005-08-01

    Full Text Available Abstract Background Interstitial lung diseases (ILD are chronic inflammatory disorders leading to pulmonary fibrosis. Monocyte chemotactic protein 1 (MCP-1 promotes collagen synthesis and deletion of the MCP-1 receptor CCR2 protects from pulmonary fibrosis in ILD mouse models. We hypothesized that pulmonary MCP-1 and CCR2+ T cells accumulate in pediatric ILD and are related to disease severity. Methods Bronchoalveolar lavage fluid was obtained from 25 children with ILD and 10 healthy children. Levels of pulmonary MCP-1 and Th1/Th2-associated cytokines were quantified at the protein and the mRNA levels. Pulmonary CCR2+, CCR4+, CCR3+, CCR5+ and CXCR3+ T cells were quantified by flow-cytometry. Results CCR2+ T cells and MCP-1 levels were significantly elevated in children with ILD and correlated with forced vital capacity, total lung capacity and ILD disease severity scores. Children with lung fibrosis had significantly higher MCP-1 levels and CCR2+ T cells in bronchoalveolar lavage fluid compared to non-fibrotic children. Conclusion The results indicate that pulmonary CCR2+ T cells and MCP-1 contribute to the pathogenesis of pediatric ILD and might provide a novel target for therapeutic strategies.

  7. Nature of frequent deletions in CEBPA.

    Science.gov (United States)

    Fuchs, Ota; Kostecka, Arnost; Provaznikova, Dana; Krasna, Blazena; Brezinova, Jana; Filkukova, Jitka; Kotlin, Roman; Kouba, Michal; Kobylka, Petr; Neuwirtova, Radana; Jonasova, Anna; Caniga, Miroslav; Schwarz, Jiri; Markova, Jana; Maaloufova, Jacqueline; Sponerova, Dana; Novakova, Ludmila; Cermak, Jaroslav

    2009-01-01

    C/EBPalpha (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPalpha is encoded by an intronless gene. CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in CEBPA gene are CGCGAG (493-498_865-870), GCCAAGCAGC (508-517_907-916) and GG (486-487_885-886), all according to GenBank accession no. NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences.

  8. Obtaining a Proportional Allocation by Deleting Items

    NARCIS (Netherlands)

    Dorn, B.; de Haan, R.; Schlotter, I.; Röthe, J.

    2017-01-01

    We consider the following control problem on fair allocation of indivisible goods. Given a set I of items and a set of agents, each having strict linear preference over the items, we ask for a minimum subset of the items whose deletion guarantees the existence of a proportional allocation in the

  9. 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A S; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2015-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of

  10. Sequence analysis of 17 NRXN1 deletions

    DEFF Research Database (Denmark)

    Hoeffding, Louise Kristine Enggaard; Hansen, Thomas; Ingason, Andrés

    2014-01-01

    into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism...

  11. Union-Find with Constant Time Deletions

    DEFF Research Database (Denmark)

    Alstrup, Stephen; Thorup, Mikkel; Gørtz, Inge Li

    2014-01-01

    operations performed, and α_M/N_(n) is a functional inverse of Ackermann’s function. They left open the question whether delete operations can be implemented more efficiently than find operations, for example, in o(log n) worst-case time. We resolve this open problem by presenting a relatively simple...

  12. Interstitial and adsorbed phosphates in shelf sediments off Visakhapatnam, east coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Sarma, V.V.; Raju, G.R.K.

    Spatial distribution of interstitial and adsorbed phosphates in the shelf sediments shows an increasing trend with distance from coastal to inshore region. Maximum concentration ranges of interstitial and adsorbed phosphates are 16-19 and 40-50 mu g...

  13. Interstitial pneumonia and pulmonary hypertension associated with suspected ehrlichiosis in a dog

    NARCIS (Netherlands)

    Toom, Marjolein Lisette den; Dobak, Tetyda Paulina; Broens, Els Marion; Valtolina, Chiara

    2016-01-01

    BACKGROUND: In dogs with canine monocytic ehrlichiosis (CME), respiratory signs are uncommon and clinical and radiographic signs of interstitial pneumonia are poorly described. However, in human monocytic ehrlichiosis, respiratory signs are common and signs of interstitial pneumonia are well known.

  14. Delayed chromosomal instability caused by large deletion

    International Nuclear Information System (INIS)

    Ojima, M.; Suzuki, K.; Kodama, S.; Watanabe, M.

    2003-01-01

    Full text: There is accumulating evidence that genomic instability, manifested by the expression of delayed phenotypes, is induced by X-irradiation but not by ultraviolet (UV) light. It is well known that ionizing radiation, such as X-rays, induces DNA double strand breaks, but UV-light mainly causes base damage like pyrimidine dimers and (6-4) photoproducts. Although the mechanism of radiation-induced genomic instability has not been thoroughly explained, it is suggested that DNA double strand breaks contribute the induction of genomic instability. We examined here whether X-ray induced gene deletion at the hprt locus induces delayed instability in chromosome X. SV40-immortalized normal human fibroblasts, GM638, were irradiated with X-rays (3, 6 Gy), and the hprt mutants were isolated in the presence of 6-thioguanine (6-TG). A 2-fold and a 60-fold increase in mutation frequency were found by 3 Gy and 6 Gy irradiation, respectively. The molecular structure of the hprt mutations was determined by multiplex polymerase chain reaction of nine exons. Approximately 60% of 3 Gy mutants lost a part or the entire hprt gene, and the other mutants showed point mutations like spontaneous mutants. All 6 Gy mutants show total gene deletion. The chromosomes of the hprt mutants were analyzed by Whole Human Chromosome X Paint FISH or Xq telomere FISH. None of the point or partial gene deletion mutants showed aberrations of X-chromosome, however total gene deletion mutants induced translocations and dicentrics involving chromosome X. These results suggest that large deletion caused by DNA double strand breaks destabilizes chromosome structure, which may be involved in an induction of radiation-induced genomic instability

  15. Identification of homozygous deletions at chromosome 16q23 in aflatoxin B1 exposed hepatocellular carcinoma.

    Science.gov (United States)

    Yakicier, M C; Legoix, P; Vaury, C; Gressin, L; Tubacher, E; Capron, F; Bayer, J; Degott, C; Balabaud, C; Zucman-Rossi, J

    2001-08-23

    Loss of heterozygosity (LOH) represents the most frequent genetic alteration observed in hepatocellular carcinoma (HCC). Chromosome 16q is of particular interest as it exhibits LOH in 29% of HCC tumors and is frequently lost in breast, prostate, ovarian and gastric carcinomas. We genotyped 157 HCC tumors for 17 microsatellite markers distributed on chromosome 16q and determined a common region of LOH localized between the markers D16S518 and D16S504. By refining the boundaries of two interstitial LOH and two homozygous deletions, the critical region was delimited to 180 kb between D16S3096 and D16S3029. This region is located in intron 8 of the WWOX/FOR gene, but a search for mutations in all coding exons of this gene in 27 HCC tumors and cell lines did not reveal any tumor somatic alterations. Furthermore, by RT-PCR, no abnormal transcripts of this WWOX/FOR gene was detected in nine HCC cell lines. Finally, analysis of the p53 gene mutations with the clinical parameters of all tumors revealed that the two homozygous deletions have occurred in tumors presenting a R249S mutation. Our data revealed a relationship between chromosome 16q homozygous deletions and R249S p53 mutations in tumors where the patient had been exposed to aflatoxin B1 (P=0.002). These results are consistent with a role of aflatoxin B1 in the instability of chromosome 16q at the fragile site FRA16D. However, the nature of the specific gene that is altered during hepatocarcinogenesis remains to be elucidated.

  16. Influence of interstitial Mn on magnetism in room-temperature ferromagnet Mn(1+delta)Sb

    OpenAIRE

    Taylor, A. E.; Berlijn, T.; Hahn, S. E.; May, A. F.; Williams, T. J.; Poudel, L.; Calder, S.; Fishman, R. S.; Stone, M. B.; Aczel, A. A.; Cao, H. B.; Lumsden, M. D.; Christianson, A. D.

    2015-01-01

    We report elastic and inelastic neutron scattering measurements of the high-TC ferromagnet Mn(1+delta)Sb. Measurements were performed on a large, TC=434 K, single crystal with interstitial Mn content of delta~0.13. The neutron diffraction results reveal that the interstitial Mn has a magnetic moment, and that it is aligned antiparallel to the main Mn moment. We perform density functional theory calculations including the interstitial Mn, and find the interstitial to be magnetic in agreement w...

  17. Strain field due to self-interstitial impurity in Ni

    Indian Academy of Sciences (India)

    metals due to substitutional impurities using Kanzaki lattice static method based on discrete lattice theory. This method ... lattice under applied external forces is expanded in powers series of the displacements which in the .... Since the interstitial impurity interacts with short-range interactions, the external force is expected to ...

  18. Interstitial meiofauna of Namib sandy beaches | McGwynne | African ...

    African Journals Online (AJOL)

    Interstitial meiofauna were sampled across the intertidal zone and into the sublittoral region on two exposed sandy beaches on the Namibian coast, Langstrand and Cape Cross. A transverse barrip beach configuration at Langstrand allowed a comparison between the distribution and abundance patterns at the horn and ...

  19. Nonequilibrium effects in fixed-bed interstitial fluid dispersion

    NARCIS (Netherlands)

    Kronberg, Alexandre E.; Westerterp, K.R.

    1999-01-01

    Continuum models for the role of the interstitial fluid with respect to mass and heat dispersion in a fixed bed are discussed. It is argued that the departures from local equilibrium and not the concentration and temperature gradients as such should be considered as the driving forces for mass and

  20. Atomic displacements due to interstitial hydrogen in Cu and Pd

    Indian Academy of Sciences (India)

    c Indian Academy of Sciences. Vol. 69, No. 2. — journal of. August 2007 physics pp. 255–265. Atomic displacements due to interstitial hydrogen in Cu and Pd ..... Phys. 64, 1015 (1992). [7] Martin Fuchs and Matthias Scheffer, Comput. Phys. Commun. 119, 67 (1999). [8] Hitesh Sharma and S Prakash, Pramana – J. Phys.

  1. "C" arm guidance in interstitial brachytherapy of pelvic malignancies.

    Science.gov (United States)

    Kumar, P P; Bartone, F F; Jacobs, A J; Taylor, J E; Jones, E O

    1983-11-01

    Since 1979 more than 50 transperineal interstitial implants, both removable and permanent, have been performed at the University of Nebraska Medical Center. The "C" arm of the mobile image-intensifier television unit Siemens Mobile 2 was used to guide the placement of the needles and was found to be useful in achieving accurate implantation.

  2. [Lung transplantation in pulmonary fibrosis and other interstitial lung diseases].

    Science.gov (United States)

    Berastegui, Cristina; Monforte, Victor; Bravo, Carlos; Sole, Joan; Gavalda, Joan; Tenório, Luis; Villar, Ana; Rochera, M Isabel; Canela, Mercè; Morell, Ferran; Roman, Antonio

    2014-09-15

    Interstitial lung disease (ILD) is the second indication for lung transplantation (LT) after emphysema. The aim of this study is to review the results of LT for ILD in Hospital Vall d'Hebron (Barcelona, Spain). We retrospectively studied 150 patients, 87 (58%) men, mean age 48 (r: 20-67) years between August 1990 and January 2010. One hundred and four (69%) were single lung transplants (SLT) and 46 (31%) bilateral-lung transplants (BLT). The postoperative diagnoses were: 94 (63%) usual interstitial pneumonia, 23 (15%) nonspecific interstitial pneumonia, 11 (7%) unclassifiable interstitial pneumonia and 15% miscellaneous. We describe the functional results, complications and survival. The actuarial survival was 87, 70 and 53% at one, 3 and 5 years respectively. The most frequent causes of death included early graft dysfunction and development of chronic rejection in the form of bronchiolitis obliterans (BOS). The mean postoperative increase in forced vital capacity and forced expiratory volume in the first second (FEV1) was similar in SLT and BLT. The best FEV1 was reached after 10 (r: 1-36) months. Sixteen percent of patients returned to work. At some point during the evolution, proven acute rejection was diagnosed histologically in 53 (35%) patients. The prevalence of BOS among survivors was 20% per year, 45% at 3 years and 63% at 5 years. LT is the best treatment option currently available for ILD, in which medical treatment has failed. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  3. Interstitial cells in the musculature of the gastrointestinal tract

    DEFF Research Database (Denmark)

    Rumessen, Jüri J; Vanderwinden, Jean-Marie

    2003-01-01

    Expression of the receptor tyrosine kinase KIT on cells referred to as interstitial cells of Cajal (ICC) has been instrumental during the past decade in the tremendous interest in cells in the interstitium of the smooth muscle layers of the digestive tract. ICC generate the pacemaker component (e...

  4. [Interstitial pregnancy: a rare type of ectopic pregnancy].

    Science.gov (United States)

    Timmerman, E; Roovers, J P W R; Ankum, W M; Hajenius, P J

    2008-04-05

    Three women, aged 21, 28 and 37 years, respectively, were diagnosed with interstitial pregnancies. The first patient presented with lateral abdominal pain, the second patient was asymptomatic and consulted the physician for a routine first trimester scan and the third patient had painless vaginal bleeding in the first trimester. Each was treated with systemic methotrexate in a multiple dose regimen, which was successful in the latter two patients. The first patient was discharged in good condition after her last methotrexate injection, but developed severe abdominal pain and collapsed at home after the interstitial pregnancy had ruptured. She underwent surgery and recovered. Today, the incidence of ectopic pregnancy in the Netherlands is around 8 per 1000 live births. Interstitial pregnancies, which nidate in the portion of the fallopian tube embedded in the uterine wall, account for 2-3% of all ectopic pregnancies. A urinary pregnancy test should be performed for any fertile woman with abdominal pain or abnormal vaginal bleeding. If the result is positive, the patient should be referred to a gynaecologist for transvaginal ultrasound to exclude ectopic pregnancy. In case of a pregnancy of unknown location, one should search for specific ultrasound markers of non-tubal ectopic pregnancy and assess serum human chorionic gonadotropin (HCG). Interstitial ectopic pregnancy should be considered if the serum HCG level is above 2000 U/l.

  5. Factors influencing the success of conservative treatment of interstitial pregnancy.

    Science.gov (United States)

    Cassik, P; Ofili-Yebovi, D; Yazbek, J; Lee, C; Elson, J; Jurkovic, D

    2005-09-01

    To identify demographic, morphological and biochemical characteristics of interstitial pregnancies that are associated with a successful outcome of conservative treatment (expectant management or medical treatment with methotrexate). Over a period of 6 years all clinically stable women with a certain ultrasound diagnosis of interstitial ectopic pregnancy were managed either expectantly (no interventions) or medically (systemic or local methotrexate injection). The outcome of conservative treatment was compared to a number of diagnostic parameters, which were recorded at the initial visit. The treatment was classified as successful if serum human chorionic gonadotropin (hCG) level declined below 20 IU/L without the need for any additional interventions, such as the administration of methotrexate or surgery. A total of 42 interstitial pregnancies were diagnosed during the study period. Out of 35 women included in the final analysis 7 (20%) were managed expectantly and 28 (80%) received either local (n = 23) or systemic methotrexate (n = 5). There were no significant differences in the success rates of expectant treatment and treatment with either systemic or local methotrexate. The initial median serum hCG was significantly lower in women with successful conservative management (3216 IU/L vs. 15 900 IU/L; P < 0.05) but there were no other significant differences between cases with successful and failed treatment. The measurement of serum hCG at the initial visit may be used to predict the likelihood of successful conservative treatment of interstitial pregnancy.

  6. Incidental Detection of Interstitial Pregnancy on CT Imaging

    OpenAIRE

    Shin, Byung Seok; Park, Mi-hyun

    2009-01-01

    Ectopic pregnancy is a potentially life-threatening condition. Detection of ectopic pregnancy on CT images is rare. In this case, we describe the CT findings of interstitial pregnancy both before and after rupture. If CT images demonstrate the presence of a strong enhancing ring-like mass in the pelvis, ectopic pregnancy should be considered.

  7. Hysteroscopic removal of an interstitial ectopic gestation. A case report.

    Science.gov (United States)

    Meyer, W R; Mitchell, D E

    1989-11-01

    A 31-year-old woman with plauteauing quantitative serial beta-human chorionic gonadotropin levels, suspect pelvic sonography and the absence of products of conception on uterine curettage was suspected of having an interstitial ectopic pregnancy. Confirmation was by endoscopy. Cornual uterine wedge resection was avoided with laparoscopically guided hysteroscopic removal of the products of conception.

  8. Pulmonary function vascular index predicts prognosis in idiopathic interstitial pneumonia

    NARCIS (Netherlands)

    Corte, Tamera J.; Wort, Stephen J.; MacDonald, Peter S.; Edey, Anthony; Hansell, David M.; Renzoni, Elisabetta; Maher, Toby M.; Nicholson, Andrew G.; Bandula, Steven; Bresser, Paul; Wells, Athol U.

    2012-01-01

    Background and objective: Pulmonary hypertension (PH) is associated with increased mortality in fibrotic idiopathic interstitial pneumonia (IIP). We hypothesize that baseline KCO (diffusing capacity of carbon monoxide/alveolar volume) and 6-month decline in KCO reflect PH, thus predicting mortality

  9. Interstitial pressure and lung oedema in chronic hypoxia

    Czech Academy of Sciences Publication Activity Database

    Rivolta, I.; Lucchini, G.; Rocchetti, M.; Kolář, František; Palazzo, F.; Zaza, A.; Miserocchi, G.

    2011-01-01

    Roč. 37, č. 4 (2011), s. 943-949 ISSN 0903-1936 Institutional research plan: CEZ:AV0Z50110509 Keywords : capillary patency * lung morphometry * microvascular permeability * pulmonary hypertension * pulmonary interstitial pressure Subject RIV: FC - Pulmology Impact factor: 5.895, year: 2011

  10. Bronchoalveolar lavage in HIV infected patients with interstitial pneumonitis.

    Science.gov (United States)

    de Blic, J; Blanche, S; Danel, C; Le Bourgeois, M; Caniglia, M; Scheinmann, P

    1989-01-01

    The value of taking microbiological and cytological specimens by flexible bronchoscopy and bronchoalveolar lavage under local anaesthesia was assessed on 43 occasions in 35 HIV infected children, aged 3 months to 16 years, with interstitial pneumonitis. In acute interstitial pneumonitis (n = 22, 26 specimens from bronchoalveolar lavages) the microbiological yield was 73%, Pneumocystis carinii being the commonest infective agent (n = 14). P carinii pneumonia was found only in children with deficient antigen induced lymphocyte proliferative responses who had not been treated with long term prophylactic co-trimoxazole. In contrast, in 13 children with chronic interstitial pneumonitis that was consistent with a diagnosis of pulmonary lymphoid hyperplasia who underwent bronchoalveolar lavage on 17 occasions, there were two isolates of cytomegalovirus and one of adenovirus, but P carinii was not found. Ten of the 13 children had normal antigen induced lymphocyte proliferative responses. Useful cytological data were also gleaned from bronchoalveolar lavage specimens. Lymphocytosis was significantly higher in pulmonary lymphoid hyperplasia (36(SD 11)%) than in P carinii pneumonia (24(19)%) whereas the percentage of polymorphonuclear neutrophils was significantly lower (3(2)% compared with 12(13)%). Flexible bronchoscopy with bronchoalveolar lavage is safe even in young infants and should reduce the necessity for open lung biopsy in the management of HIV infected children with interstitial pneumonitis. PMID:2817943

  11. Muscle interstitial potassium kinetics during intense exhaustive exercise

    DEFF Research Database (Denmark)

    Nordsborg, Nikolai; Mohr, Magni; Pedersen, Lasse Dannemann

    2003-01-01

    Interstitial K+ ([K+]i) was measured in human skeletal muscle by microdialysis during exhaustive leg exercise, with (AL) and without (L) previous intense arm exercise. In addition, the reproducibility of the [K+]i determinations was examined. Possible microdialysis-induced rupture of the sarcolem...

  12. Self-interstitial configuration in molybdenum studied by modified ...

    Indian Academy of Sciences (India)

    Abstract. The stability of various atomic configurations containing a self-interstitial atom (SIA) in a model representing Mo has been investigated using the modified analytical embedded atom method (MAEAM). The lattice relaxations are treated with the molecular dynamics (MD) simulation at absolute zero of temperature.

  13. Interstitial cystitis is bladder pain syndrome with Hunner's lesion.

    Science.gov (United States)

    Fall, Magnus; Logadottir, Yr; Peeker, Ralph

    2014-04-01

    The contents and understanding of the term, interstitial cystitis, have undergone major changes during the past 100 years, moving from a chronic, true inflammatory bladder disorder to an extensive syndrome with lower urinary tract pain. Comments on this development are presented. From examples in the literature, some important features of classic interstitial cystitis are outlined. The more inclusive attitude of later decades has drawn desirable attention to the entire spectrum of disorders resulting in bladder pain. The wish to include all of them into one handy entity has unfortunately resulted in much scientific and clinical confusion, though. It is noted that originally interstitial cystitis represented the Hunner type of disease. Today, there is agreement that the classic type of interstitial cystitis with Hunner's lesions, bladder pain syndrome type 3C according to current terminology, stands out as a well-defined phenotype; it has to evaluated separately in clinical studies and practice, as treatment requirements differ importantly between this and other phenotypes. © 2014 The Japanese Urological Association.

  14. The interstitial cystitis syndrome: Intravesical and oral treatment

    NARCIS (Netherlands)

    Kurth, K. H.; Parsons, C. L.

    2003-01-01

    The interstitial cystitis (IC) syndrome is a debilitating bladder disorder affecting greater than or equal to16/100,000 people in the Netherlands. A prevalence of 450/100,000 was found in Finland when IC symptom and problem index questionnaires were used. The origin of IC is not known. The syndrome

  15. Quantitative pulmonary gallium scanning in interstitial lung disease

    International Nuclear Information System (INIS)

    Ramsay, S.C.; Yeates, M.G.; Burke, W.M.J.; Morgan, G.W.; Breit, S.N.; Bryant, D.H.

    1992-01-01

    The mechanisms responsible for gallium uptake in chronic, non-infective, diffuse lung disease are not completely understood. This study attempted to clarify some of them. A lung/liver gallium index was calculated in 113 subjects, some normal and some with various interstitial lung diseases, predominantly those associated with connective tissue disease. The mean gallium index was significantly higher in the groups with active interstitial lung disease (5.7) and non-infective bronchiolitis (4.1) compared with non-smoking normals (3.0; P<0.05). To investigate the mechanisms responsible for gallium uptake, the gallium index was correlated with bronchoalveolar lavage findings, respiratory function tests and clinical features. Significant correlations (P<0.05) were found with age in non-smoking normals; lavage macrophages in smoking normals; age but no other parameter in bronchiolitis; lavage lymphocytes, lavage albumin and improvement in diffusion capacity for carbon monoxide in those with active interstitial lung disease. It is concluded that in normal smokers gallium uptake may be due to a macrophage-mediated process. Gallium uptake in active interstitial lung disease associated with connective tissue disease appears to be an immunological process in which transport and retention of gallium is associated with that of albumin. (orig.)

  16. Erectile dysfunction is a common problem in interstitial lung diseases

    DEFF Research Database (Denmark)

    Fløe, Andreas; Hilberg, Ole; Wijsenbeek, Marlies

    2017-01-01

    Introduction: Erectile dysfunction (ED) is related to chronic diseases, including COPD. The patho- genesis may involve chronic hypoxia, which is common in interstitial lung disease (ILD). We aimed to study the relationship between ILD and ED. Method: Male patients with ILD detected by high-resolu...

  17. Investigations of lymphatic drainage from the interstitial space

    Science.gov (United States)

    Jayathungage Don, Tharanga; Richard Clarke Collaboration; John Cater Collaboration; Vinod Suresh Collaboration

    2017-11-01

    The lymphatic system is a highly complex biological system that facilitates the drainage of excess fluid in body tissues. In addition, it is an integral part of the immunological control system. Understanding the mechanisms of fluid absorption from the interstitial space and flow through the initial lymphatics is important to treat several pathological conditions. The main focus of this study is to computationally model the lymphatic drainage from the interstitial space. The model has been developed to consider a 3D lymphatic network and uses biological data to inform the creation of realistic geometries for the lymphatic capillary networks. We approximate the interstitial space as a porous region and the lymphatic vessel walls as permeable surfaces. The dynamics of the flow is approximated by Darcy's law in the interstitium and the Navier-Stokes equations in the lymphatic capillary lumen. The proposed model examines lymph drainage as a function of pressure gradient. In addition, we have examined the effects of interstitial and lymphatic wall permeabilities on the lymph drainage and the solute transportation in the model. The computational results are in accordance with the available experimental measurements.

  18. Fine sand in motion: the influence of interstitial air

    NARCIS (Netherlands)

    Homan, T.A.M.

    2013-01-01

    Sand is a granular material, and therefore it consists of individual grains arranged in a packing. The pores in-between the grains are usually filled with a fluid, in this case air. Now, is this interstitial air able to influence the behavior of the sand bed as a whole? When a ball impacts on fine,

  19. Incidental Detection of Interstitial Pregnancy on CT Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Byung Seok [Chungnam National University Hospital, Daejeon (Korea, Republic of); Park, Mi Hyun [Dankook University Hospital, Cheonan (Korea, Republic of)

    2010-02-15

    Ectopic pregnancy is a potentially life-threatening condition. Detection of ectopic pregnancy on CT images is rare. In this case, we describe the CT findings of interstitial pregnancy both before and after rupture. If CT images demonstrate the presence of a strong enhancing ring-like mass in the pelvis, ectopic pregnancy should be considered

  20. Incidental Detection of Interstitial Pregnancy on CT Imaging

    International Nuclear Information System (INIS)

    Shin, Byung Seok; Park, Mi Hyun

    2010-01-01

    Ectopic pregnancy is a potentially life-threatening condition. Detection of ectopic pregnancy on CT images is rare. In this case, we describe the CT findings of interstitial pregnancy both before and after rupture. If CT images demonstrate the presence of a strong enhancing ring-like mass in the pelvis, ectopic pregnancy should be considered

  1. Tumor interstitial fluid - a treasure trove of cancer biomarkers.

    Science.gov (United States)

    Gromov, Pavel; Gromova, Irina; Olsen, Charlotta J; Timmermans-Wielenga, Vera; Talman, Mai-Lis; Serizawa, Reza R; Moreira, José M A

    2013-11-01

    Tumor interstitial fluid (TIF) is a proximal fluid that, in addition to the set of blood soluble phase-borne proteins, holds a subset of aberrantly externalized components, mainly proteins, released by tumor cells and tumor microenvironment through various mechanisms, which include classical secretion, non-classical secretion, secretion via exosomes and membrane protein shedding. Consequently, the interstitial aqueous phase of solid tumors is a highly promising resource for the discovery of molecules associated with pathological changes in tissues. Firstly, it allows one to delve deeper into the regulatory mechanisms and functions of secretion-related processes in tumor development. Secondly, the anomalous secretion of molecules that is innate to tumors and the tumor microenvironment, being associated with cancer progression, offers a valuable source for biomarker discovery and possible targets for therapeutic intervention. Here we provide an overview of the features of tumor-associated interstitial fluids, based on recent and updated information obtained mainly from our studies of breast cancer. Data from the study of interstitial fluids recovered from several other types of cancer are also discussed. This article is a part of a Special Issue entitled: The Updated Secretome. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Rheumatoid interstitial lung disease presenting as cor pulmonale.

    Science.gov (United States)

    Acharya, Sourya; Mahajan, S N; Shukla, Samarth; Diwan, S K; Banode, Pankaj; Kothari, Nirmesh

    2010-10-01

    Rheumatiod arthritis (RA) is a multisystem connective tissue disorder. The predominant presentation is polyarticular, symmetric peripheral arthritis with relative sparing of axial skeleton. Inflammatory synovitis is the pathologic hallmark. Extra-articular manifestations of RA can involve several other organ systems and amongst them pulmonary manifestations occur commonly. We report a case of rheumatoid interstitial lung disease presenting as cor pulmonale.

  3. Rheumatoid interstitial lung disease presenting as cor pulmonale

    Directory of Open Access Journals (Sweden)

    Acharya Sourya

    2010-01-01

    Full Text Available Rheumatiod arthritis (RA is a multisystem connective tissue disorder. The predominant presentation is polyarticular, symmetric peripheral arthritis with relative sparing of axial skeleton. Inflammatory synovitis is the pathologic hallmark. Extra-articular manifestations of RA can involve several other organ systems and amongst them pulmonary manifestations occur commonly. We report a case of rheumatoid interstitial lung disease presenting as cor pulmonale.

  4. Interstitial cells of Cajal in human gut and gastrointestinal disease

    DEFF Research Database (Denmark)

    Vanderwinden, J M; Rumessen, J J

    1999-01-01

    This paper reviews the distribution of interstitial cells of Cajal (ICC) in the human gastrointestinal (GI) tract, based on ultrastructural and immunohistochemical evidence. The distribution and morphology of ICC at each level of the normal GI tracts is addressed from the perspective of their fun...

  5. How feasible is expectant management of interstitial ectopic pregnancy?

    Science.gov (United States)

    Poon, L C Y; Emmanuel, E; Ross, J A; Johns, J

    2014-03-01

    To review the success rate of expectant management in a series of interstitial pregnancies. We identified all women with an ultrasound diagnosis of interstitial pregnancy seen within a 9-year period (January 2004 to April 2013). The clinical history, ultrasound findings and biochemical results were reviewed. The outcome of all interstitial pregnancies managed conservatively was recorded. Treatment was considered as successful when the serum β-human chorionic gonadotropin (β-hCG) level declined below 20 IU/L without the need for further intervention. A total of 48 interstitial pregnancies were diagnosed during the study period. Surgery was the first-line treatment in nine (18.8%) cases. Thirty-eight (79.2%) women were offered non-surgical management: 19 (39.6%) had methotrexate (MTX) and 19 (39.6%) were managed expectantly. One (2.1%) woman returned to her local hospital following diagnosis and we were unable to obtain any follow-up information regarding her care. The median initial serum β-hCG level and ectopic size were not significantly different between any of the groups according to initial treatment. The overall success rate of expectant management was 89.5%. There were no cases of ectopic rupture in this group. Length of follow-up ranged from 7 to 141 days with a median duration of follow-up of 50.6 days. Our data show that expectant management is an option for selected women with non-viable interstitial pregnancies and declining serum β-hCG levels, irrespective of ectopic mass size and initial serum β-hCG levels. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

  6. Microdefects and self-interstitial diffusion in crystalline silicon

    Energy Technology Data Exchange (ETDEWEB)

    Knowlton, W.B.

    1998-05-01

    In this thesis, a study is presented of D-defects and self-interstitial diffusion in silicon using Li ion (Li{sup +}) drifting in an electric field and transmission electron microscopy (TEM). Obstruction of Li{sup +} drifting has been found in wafers from certain but not all FZ p-type Si. Incomplete Li{sup +} drifting always occurs in the central region of the wafers. This work established that interstitial oxygen is not responsible for hindering Li{sup +} drifting. TEM was performed on a samples from the partially Li{sup +} drifted area and compared to regions without D-defects. Precipitates were found only in the region containing D-defects that had partially Li{sup +} drifted. This result indicates D-defects are responsible for the precipitation that halts the Li{sup +} drift process. Nitrogen (N) doping has been shown to eliminate D-defects as measured by conventional techniques. Li{sup +} drifting and D-defects provide a useful means to study Si self-interstitial diffusion. The process modeling program SUPREM-IV was used to simulate the results of Si self-interstitial diffusion obtained from Li{sup +} drifting experiments. Anomalous results from the Si self-interstitial diffusion experiments forced a re-examination of the possibility of thermal dissociation of D-defects. Thermal annealing experiments that were performed support this possibility. A review of the current literature illustrates the need for more research on the effects of thermal processing on FZ Si to understand the dissolution kinetics of D-defects.

  7. A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.

    Science.gov (United States)

    Wang, D; Ren, G F; Zhang, H Z; Yi, C Y; Peng, Z J

    2016-12-02

    Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient's deletion, including IHH, were determined. However, no copy number changes were observed in his healthy parents. The present case exhibited novel syndactyly features, broadening the spectrum of clinical findings observed in individuals with 2q interstitial deletions. Our data, together with previous observations, suggest that IHH haploinsufficiency is the principal pathogenic factor in the syndactyly phenotype in this study, and that different types of variations at the IHH locus may cause divergent disease phenotypes. This is the first report of the involvement of IHH haploinsufficiency in syndactyly phenotype.

  8. 78 FR 29119 - Procurement List; Additions and Deletion

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  10. Genetics Home Reference: 2q37 deletion syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions 2q37 deletion syndrome 2q37 deletion syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description 2q37 deletion syndrome is a condition that can affect many ...

  11. Genetics Home Reference: 1p36 deletion syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions 1p36 deletion syndrome 1p36 deletion syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description 1p36 deletion syndrome is a disorder that typically causes severe ...

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  17. Genetics Home Reference: 22q11.2 deletion syndrome

    Science.gov (United States)

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  1. Characterization of five partial deletions of the factor VIII gene

    International Nuclear Information System (INIS)

    Youssoufian, H.; Antonarakis, S.E.; Aronis, S.; Tsiftis, G.; Phillips, D.G.; Kazazian, H.H. Jr.

    1987-01-01

    Hemophilia A is an X-linked disorder of coagulation caused by a deficiency of factor VIII. By using cloned DNA probes, the authors have characterized the following five different partial deletions of the factor VIII gene from a panel of 83 patients with hemophilia A: (i) a 7-kilobase (kb) deletion that eliminates exon 6; (ii) a 2.5-kb deletion that eliminates 5' sequences of exon 14; (iii) a deletion of at least 7 kb that eliminates exons 24 and 25; (iv) a deletion of at least 16 kb that eliminates exons 23-25; and (v) a 5.5-kb deletion that eliminates exon 22. The first four deletions are associated with severe hemophilia A. By contrast, the last deletion is associated with moderate disease, possibly because of in-frame splicing from adjacent exons. None of those patients with partial gene deletions had circulating inhibitors to factor VIII. One deletion occurred de novo in a germ cell of the maternal grandmother, while a second deletion occurred in a germ cell of the maternal grandfather. These observations demonstrate that de novo deletions of X-linked genes can occur in either male or female gametes

  2. 75 FR 69638 - Procurement List; Additions and Deletion

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    2010-11-15

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  4. 44 CFR 5.27 - Deletion of identifying details.

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  5. 29 CFR 1610.20 - Deletion of exempted matters.

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  6. 75 FR 41449 - Procurement List Additions and Deletion

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    2010-07-16

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  9. Genetics Home Reference: 22q13.3 deletion syndrome

    Science.gov (United States)

    ... Health Conditions 22q13.3 deletion syndrome 22q13.3 deletion syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description 22q13.3 deletion syndrome , which is also commonly known as Phelan- ...

  10. Annihilating vacancies via dynamic reflection and emission of interstitials in nano-crystal tungsten

    Science.gov (United States)

    Li, Xiangyan; Duan, Guohua; Xu, Yichun; Zhang, Yange; Liu, Wei; Liu, C. S.; Liang, Yunfeng; Chen, Jun-Ling; Luo, G.-N.

    2017-11-01

    Radiation damage not only seriously degrades the mechanical properties of tungsten (W) but also enhances hydrogen retention in the material. Introducing a large amount of defect sinks, e.g. grain boundaries (GBs) is an effective method for improving radiation-resistance of W. However, the mechanism by which the vacancies are dynamically annihilated at long timescale in nano-crystal W is still not clear. The dynamic picture for eliminating vacancies with single interstitials and small interstitial-clusters has been investigated by combining molecular dynamics, molecular statics and object Kinetic Monte Carlo methods. On one hand, the annihilation of bulk vacancies was enhanced due to the reflection of an interstitial-cluster of parallel ≤ftright> crowdions by the GB. The interstitial-cluster was observed to be reflected back into the grain interior when approaching a locally dense GB region. Near this region, the energy landscape for the interstitial was featured by a shoulder, different to the decreasing energy landscape of the interstitial near a locally loose region as indicative of the sink role of the GB. The bulk vacancy on the reflection path was annihilated. On the other hand, the dynamic interstitial emission efficiently anneals bulk vacancies. The single interstitial trapped at the GB firstly moved along the GB quickly and clustered to be the di-interstitial therein, reducing its mobility to a value comparable to that that for bulk vacancy diffusion. Then, the bulk vacancy was recombined via the coupled motion of the di-interstitial along the GB, the diffusion of the vacancy towards the GB and the accompanying interstitial emission. These results suggest that GBs play an efficient role in improving radiation-tolerance of nano-crystal W via reflecting highly-mobile interstitials and interstitial-clusters into the bulk and annihilating bulk vacancies, and via complex coupling of in-boundary interstitial diffusion, clustering of the interstitial and vacancy

  11. Probabilistic phylogenetic inference with insertions and deletions.

    Directory of Open Access Journals (Sweden)

    Elena Rivas

    2008-09-01

    Full Text Available A fundamental task in sequence analysis is to calculate the probability of a multiple alignment given a phylogenetic tree relating the sequences and an evolutionary model describing how sequences change over time. However, the most widely used phylogenetic models only account for residue substitution events. We describe a probabilistic model of a multiple sequence alignment that accounts for insertion and deletion events in addition to substitutions, given a phylogenetic tree, using a rate matrix augmented by the gap character. Starting from a continuous Markov process, we construct a non-reversible generative (birth-death evolutionary model for insertions and deletions. The model assumes that insertion and deletion events occur one residue at a time. We apply this model to phylogenetic tree inference by extending the program dnaml in phylip. Using standard benchmarking methods on simulated data and a new "concordance test" benchmark on real ribosomal RNA alignments, we show that the extended program dnamlepsilon improves accuracy relative to the usual approach of ignoring gaps, while retaining the computational efficiency of the Felsenstein peeling algorithm.

  12. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

    Directory of Open Access Journals (Sweden)

    Heng Gu

    Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  13. Determination of the population of octahedral and tetrahedral interstitials in zirconium hydrides

    International Nuclear Information System (INIS)

    Fedorov, V.M.; Gogava, V.V.; Shilo, S.I.; Biryukova, E.A.

    1983-01-01

    Results of neutron investigations of ZrHsub(1.66), ZrHsub(1.75) and ZrHsub(1.98) zirconium hydrides are presented. Investigations were conducted using plane polycrystal samples by multidetector system of scattered neutron detection. Neutron diffraction method was used to determine the number of interstitial hydrogen atoms in interstitials of the lattice cell in the case of statistic atom distribution. The numbers of interstitial atoms in octahedral interstitials for zirconium hydrides were determined experimentally; the difference of potential energies of hydrogen atoms in octa- and tetrahedral interstitials was determined as well. It is shown that experimentally determined difference of potential energies of hydrogen atoms, occupying octa- and tetrahedral positions in investigated zirconium hydrides results at room temperature in the pretailing occupation of tetrahedral interstitials by hydrogen atoms (85-90%); the occupation number grows with temperature decrease and the ordering of interstitial vacancies with formation of hydrogen superstructure takes place at low temperatures

  14. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

    Directory of Open Access Journals (Sweden)

    Xu Yue-Juan

    2011-12-01

    Full Text Available Abstract Background Conotruncal heart defects (CTDs are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1 as a critical gene in the pathogenesis of the syndrome. The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs. Methods We enrolled 212 patients with CTDs and 139 unrelated healthy controls. Both karyotypic analysis and multiplex ligation-dependent probe amplification were performed for all CTDs patients. Fluorescence in situ hybridization was performed for the patients with genetic deletions and their relatives. The TBX1 gene was sequenced for all patients and healthy controls. The χ2 and Fisher's exact test were used in the statistical analysis. Results Thirteen of the 212 patients with CTDs (6.13% were found to have the 22q11.2 deletion syndrome. Of the 13 cases, 11 presented with a hemizygous interstitial microdeletion from CLTCL1 to LZTR1; one presented with a regional deletion from CLTCL1 to DRCR8; and one presented with a regional deletion from CDC45L to LZTR1. There were eight sequence variants in the haploid TBX1 genes of the del22q11 CTDs patients. The frequency of one single nucleotide polymorphism (SNP in the del22q11 patients was different from that of the non-del patients (P P Conclusions CTDs, especially pulmonary atresia with ventricular septal defect and tetralogy of Fallot, are the most common disorders associated with the 22q11.2 deletion syndrome. Those patients with both CTDs and 22q11.2 deletion generally have a typical or atypical deletion region within the TBX1 gene. Our results indicate that TBX1 genetic variants may be associated with CTDs.

  15. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Shaffer, L.G.; Greenberg, F. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1995-03-27

    DiGeorge anomaly (DGA) and velo-cardio-facial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic phenotypes. We have used fluorescence in situ hybridization (FISH) to assess the deletion status of 85 individuals referred to us for molecular analysis, with a wide range of DGA-like or VCFS-like clinical features. The test probe used was the cosmid sc11.1, which detects two loci about 2 Mb apart in 22q11.2. Twenty-four patients carried the deletion. Of the deleted patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had mild phenotypes, including 2 with minor facial anomalies and velopharyngeal incompetence as the only presenting signs. Despite the great phenotypic variability among the deleted patients, none had a deletion smaller than the 2-Mb region defined by sc11.1. Smaller deletions were not detected in patients with particularly suggestive phenotypes who were not deleted for sc11.1, even when tested with two other probes from the DGA/VCFS region. 24 refs., 2 figs., 2 tabs.

  16. Laparoscopic treatment for interstitial pregnancy, a case report

    Directory of Open Access Journals (Sweden)

    Maryam Asgharnia

    2014-11-01

    Full Text Available Diagnose and treatment of interstitial pregnancy remains challenging because this rare entity can be life threatening due to rupture and intra abdominal hemorrhage. Early diagnosis and treatment is paramount to reduce maternal mortality and maintain fertility. In this study a 37 years woman with 6weeks of amenorrhea, who presented with spoting and lower abdominal pain was admitted. Transvaginal ultrasonography scan showed a heterogenous mass in right adenex with hypervascular ring, the uterus was empty. The initial beta hCG level was 200 MIU/ml. Serial beta hCG levels platued in the follow up period. Diagnosis was suspected for ectopic pregnancy, a laparoscopy followed revealed the presence of right corneal pregnancy that corneal resection was performed. Laparoscopy appears to be safe and an effective treatment for unruptured interstitial pregnancy.

  17. Dose, time and volume effects in interstitial radiation therapy

    International Nuclear Information System (INIS)

    Burgers, J.M.V.

    1982-01-01

    This study presents the main features and uncertainties of interstitial therapy and was undertaken to examine whether differences could be found in different clinical situations treated by interstitial implants with removable sources, that were not simply related to dose. In chapter 2, dating from 1978, continuous low dose rate irradiation is discussed from the radiobiological point of view together with some points related to variation in dose rate. A benefit of continuous low dose rate irradiation could be surmised in a few situations with special cell-kinetic properties. The problem of dose specification, the sharp dose gradient and other volume characteristics are discussed in chapter 3. Possible adjustments to variations in dose rate are discussed in chapter 4. The clinical material is reviewed in chapter 5, including aspects of dose specification, dose fall-off and variation in dose rate. The general discussion and conclusions are given in chapter 6. (Auth.)

  18. Interstitial ectopic pregnancy presenting after failed termination of pregnancy.

    Science.gov (United States)

    Egan, Daniel J; Li, May; Lewiss, Resa E

    2012-10-01

    Pregnant women frequently present to the ED for complaints related to the first trimester of pregnancy. The emergency physician must confirm the presence of an intrauterine pregnancy for many such complaints. Bedside ultrasound with well-delineated criteria has become standard practice for many emergency physicians for this purpose. In the following case report, an interstitial pregnancy was identified by the emergency physician using bedside sonography in a 29-year-old woman presenting 2 weeks after dilation and aspiration for termination of pregnancy. The ED physician identified an inappropriately thin endomyometrial mantle raising suspicion for the diagnosis of an interstitial pregnancy. The case illustrates the importance of this uterine wall measurement given the otherwise normal appearance of a pregnancy within the uterus. © 2012 The Authors. EMA © 2012 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

  19. Acute Tubular Necrosis and Interstitial Nephritis during Pemetrexed Therapy

    Directory of Open Access Journals (Sweden)

    Judith Michels

    2009-03-01

    Full Text Available We report a patient with unknown primary undifferentiated carcinoma who developed acute renal failure associated with interstitial fibrosis following pemetrexed therapy. Despite drug withdrawal, renal function remained altered and the patient experienced chronic renal insufficiency. Pemetrexed disodium (Alimta™ is a multitargeted antifolate agent approved by the Food and Drug Administration (FDA for patients diagnosed with mesothelioma and non-small cell lung cancer. This drug is almost exclusively cleared by renal excretion [1]. The most common side effects are hematologic dose-limiting toxicities and nonhematologic toxicities including fatigue, diarrhea, nausea, mucositis and rash. Although few cases of renal failure have been published, no study has reported on the renal pathological findings in this setting. We present a case of acute tubular necrosis associated with interstitial fibrosis after pemetrexed therapy.

  20. Interstitial cells in the musculature of the gastrointestinal tract

    DEFF Research Database (Denmark)

    Rumessen, Jüri J; Vanderwinden, Jean-Marie

    2003-01-01

    , the ultrastructure and light microscopic morphology, as well as the functions and the development of ICC and of neighboring fibroblast-like cells (FLC), are critically reviewed. Directions for future research are considered and a unifying concept of mesenchymal cells, either KIT positive (the "ICC") or KIT negative......Expression of the receptor tyrosine kinase KIT on cells referred to as interstitial cells of Cajal (ICC) has been instrumental during the past decade in the tremendous interest in cells in the interstitium of the smooth muscle layers of the digestive tract. ICC generate the pacemaker component...... "non-Cajal" (including the FLC and possibly also other cell types) cell types in the interstitium of the smooth musculature of the gastrointestinal tract, is proposed. Furthermore, evidence is accumulating to suggest that, as postulated by Santiago Ramon y Cajal, the concept of interstitial cells...

  1. Acute interstitial nephritis due to proton pump inhibitors

    Directory of Open Access Journals (Sweden)

    K Sampathkumar

    2013-01-01

    Full Text Available Proton pump inhibitors (PPI are commonly prescribed for dyspepsia and acid peptic disease. Acute interstitial nephritis (AIN is an uncommon though important side-effect of these classes of drugs. We describe four cases: three females and one male. PPIs implicated were pantoprazole in two, omeprazole and esomeprazole in one each. AIN developed after an average period of 4 weeks of drug therapy. The symptoms were vomiting, loin pain, and oliguria. Minimal proteinuria with pyuria were seen and the mean serum creatinine was 4.95 ± 4 mg/dl. Two patients required hemodialysis. Renal biopsy showed interstitial mononuclear, plasma cell and eosinophilic infiltrates in all cases. PPI was stopped and steroids were started in all. Renal recovery was total in two and partial in two. A high index of suspicion is required to diagnose PPI induced AIN. Renal biopsy for confirmation followed up by prompt steroid therapy results in renal functional improvement.

  2. Clinical Management of Acute Interstitial Pneumonia: A Case Report

    Directory of Open Access Journals (Sweden)

    Yang Xia

    2012-01-01

    Full Text Available We describe a 51-year-old woman who was admitted to hospital because of cough and expectoration accompanied with general fatigue and progressive dyspnea. Chest HRCT scan showed areas of ground glass attenuation, consolidation, and traction bronchiectasis in bilateral bases of lungs. BAL fluid test and transbronchial lung biopsy failed to offer insightful evidence for diagnosis. She was clinically diagnosed with acute interstitial pneumonia (AIP. Treatment with mechanical ventilation and intravenous application of methylprednisolone (80 mg/day showed poor clinical response and thus was followed by steroid pulse therapy (500 mg/day, 3 days. However, she died of respiratory dysfunction eventually. Autopsy showed diffuse alveolar damage associated with hyaline membrane formation, pulmonary interstitial, immature collagen edema, and focal type II pneumocyte hyperplasia.

  3. Interstitially implanted I125 for prostate cancer using transrectal ultrasound

    International Nuclear Information System (INIS)

    Greenburg, S.; Petersen, J.; Hansen-Peters, I.; Baylinson, W.

    1990-01-01

    Prostate cancer is the third leading cause of death from cancer among men in the United States. Traditional treatments for prostate cancer are prostatectomy, external beam irradiation, and interstitial implantation of Iodine125 (I125) via laparotomy. These treatments are associated with significant morbidity and limitations. Based on experience with I125 interstitial implantation by transrectal ultrasound guidance for early-stage prostate cancer, it seems that this newer method of treatment has greater accuracy of placement and distribution of the isotope and has had few reported complications. The need for a surgical incision has been eliminated. Hospitalization time also has been decreased, creating the need for ambulatory and inpatient nurses to understand the importance of their respective roles in providing coordinated quality care for these patients. Nurses in these departments must have knowledge of the procedure, radiation safety, and common side effects related to the implant

  4. Increased bladder permeability in interstitial cystitis/painful bladder syndrome

    Science.gov (United States)

    Greenwood-Van Meerveld, Beverley; Wisniewski, Amy B.; VanGordon, Samuel; Lin, HsuehKung; Kropp, Bradley P.; Towner, Rheal A.

    2015-01-01

    The definition of interstitial cystitis (IC) has evolved over the years from being a well-defined entity characterized by diagnostic lesion (Hunner’s ulcer) in the urothelium to a clinical diagnosis by exclusion [painful bladder syndrome (PBS)]. Although the etiology is unknown, a central theme has been an association with increased permeability of the bladder. This article reviews the evidence for increased permeability being important to the symptoms of interstitial cystitis/painful bladder syndrome (IC/PBS) and in treating the disorder. Recent work showing cross-communication among visceral organs is also reviewed to provide a basis for understanding IC/PBS as a systemic disorder of a complex, interconnected system consisting of the bladder, bowel and other organs, nerves, cytokine-responding cells and the nervous system. PMID:26751576

  5. Interstitial Cystitis: Characterization and Management of an Enigmatic Urologic Syndrome

    Science.gov (United States)

    Nickel, J. Curtis

    2002-01-01

    The enigmatic urologic condition known as interstitial cystitis has an estimated prevalence of 0.01% to 0.50% of the female population. Its etiology is unknown but may involve microbiologic, immunologic, mucosal, neurogenic, and/or other, as yet undefined, agents. There is no gold standard for the diagnosis of interstitial cystitis; rather, it is a diagnosis of exclusion. It is impossible to provide a purely evidence-based treatment strategy, but review of available evidence suggests that conservative supportive therapy (including diet modification); oral treatment with pentosan polysulfate, amitriptyline, hydroxyzine, or cimetidine; and intravesical treatments with heparinoids, dimethyl sulfoxide, alkalized lidocaine, or bacille Calmette-Guérin may be effective in some patients. PMID:16985667

  6. Explicit studies of the quantum theory of light interstitial diffusion

    Energy Technology Data Exchange (ETDEWEB)

    Emin, D.; Baskes, M.I.; Wilson, W.D.

    1978-01-01

    The formalism associated with small-polaron diffusion in the high temperature semiclassical regime is generalized so as to transcend simplifications employed in developing the nonadiabatic theory. The diffusion constant is then calculated for simple models in which the metal atoms interact with each other and with the interstitial atom with two-body forces. Studies of these models not only confirm the necessity of generalizing the formalism but also yield diffusion constants whose magnitudes and temperature dependenes ar consistent with the general features of the existing data for the diffusion of hydrogen and its isotopes in bcc metals. The motion of a positive muon between interstitial positions of a metal is also investigated. (GHT)

  7. DFT STUDY REVISES INTERSTITIAL CONFIGURATIONS IN HCP Zr

    Energy Technology Data Exchange (ETDEWEB)

    Samolyuk, German D [ORNL; Golubov, Stanislav I [ORNL; Osetskiy, Yury N [ORNL; Stoller, Roger E [ORNL

    2012-06-01

    Analysis of experimental result on microstructure evolution in irradiated Zr and alloys has demonstrated that available knowledge on self-interstitial defects in Zr is in contradiction. We therefore have initiated an extensive theoretical and modeling program to clarify this issue. In this report we present first ab initio calculations results of single SIA configurations in Zr. We demonstrate importance of simulations cell size, applied exchange-correlation functional and simulated c/a ratio. The results obtained demonstrate clearly that the most stable configurations are in basal plane and provide some evidences for enhanced interstitial transport along basal planes. The results obtained will be used in generation a new interatomic potential for Zr to be used in large-scale atomistic modeling of mechanisms relevant for radiation-induced microstructure evolution.

  8. Resistivity studies of interstitial helium mobility in niobium

    International Nuclear Information System (INIS)

    Chen, C.G.; Birnbaum, H.K.; Johnson, A.B. Jr.

    1979-01-01

    The mobility of interstitial helium in Nb and Nb-O alloys was studied in the temperature range of 10-383 K using resistivity measurements. The helium was introduced by radioactive decay of solute tritium (approximately 1 at%). At T < 100 K the resistivity increased due to conversion of tritium trapped at oxygen interstititals to helium. The formation of helium caused a very significant resistance increase at room temperature and above. The results suggest that helium is mobile at temperatures above 295 K and that the precipitation of large helium bubbles occurs along grain boundaries. The mobile helium species may either be single interstitials or small helium clusters. The activation enthalpy for the diffusion of the mobile helium species was estimated to be about 55 kJ/mol (0.66 eV). (Auth.)

  9. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

    DEFF Research Database (Denmark)

    Bisgaard, A-M; Kirchhoff, M; Nielsen, J E

    2008-01-01

    A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA......) and succumbed to metachromatic leukodystrophy (MLD). The other patient had a pseudoallele, which does not lead to MLD. The presenting clinical features and low arylsulfatase A activity were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA....

  10. Unilateral twin interstitial ectopic pregnancy. Report of a case.

    Science.gov (United States)

    Twiggs, L B; Stumpf, P G; Davajan, V

    1977-01-01

    An unusual case of twin unilateral interstitial pregnancy is described. On admission the patient was thought to have an intrauterine pregnancy of 14 weeks' gestation. Because of an irregularity in the right cornual region of the uterus, a culdocentesis was performed which returned unclotted blood. Because of this finding the patient underwent laparoscopy which revealed an unruptured right cornual pregnancy. An early diagnosis before rupture allowed for conservative surgical management and uterine conservation.

  11. Antiproliferative Factor Signaling and Interstitial Cystitis/Painful Bladder Syndrome

    Science.gov (United States)

    Freeman, Michael R.

    2011-01-01

    A unique glycopeptide, antiproliferative factor (APF), has been suggested as a urinary biomarker and potential mediator of long-term bladder disorder Interstitial Cystitis/Painful Bladder Syndrome. There is no known cause for this disease. Several mechanistic approaches have been employed to address the underlying mechanism whereby APF regulates cellular responses in the bladder epithelium. A summary of recent literature is provided, and is focused on signal transduction pathways and networks that are responsive to APF. PMID:22259731

  12. Intravesical NGF Antisense Therapy Using Lipid Nanoparticle for Interstitial Cystitis

    Science.gov (United States)

    2015-10-01

    1): (1) behavioral modification 160 with patient education, (2) physical therapies , oral agents and/or intravesical medications, (3) bladder...human monoclonal D2E7 light chain, dimer Rheumatoid arthritis , Crohn’s disease, ulcerative colites Phase III, not recruiting TNF alpha antagonist Calcium...Award Number: W81XWH-12-1-0565 TITLE: Intravesical NGF Antisense Therapy Using Lipid Nanoparticle For Interstitial Cystitis PRINCIPAL

  13. Laser interstitial thermal therapy of the spine: technical aspects.

    Science.gov (United States)

    Moussazadeh, Nelson; Evans, Linton T; Grasu, Roxana; Rhines, Laurence D; Tatsui, Claudio E

    2018-04-01

    Spinal laser interstitial thermal therapy has been developed as a minimally invasive modality to treat epidural spinal tumors percutaneously. The safe and effective use of this technology requires meticulous preoperative trajectory planning and an intraoperative workflow incorporating navigation and MR thermography. Instrumented stabilization can be performed during the same operation if needed. Operative considerations and technical aspects are reviewed. The video can be found here: https://youtu.be/P--frsag6gU .

  14. Sharp interstitial Nefritis, Value Diagnoses of the Ultrasound

    International Nuclear Information System (INIS)

    Castillo, Luis Fernando; Rivera, Humberto; Andrade, Rafael E; Garcia, Diego

    1994-01-01

    Two cases of young patients are revised and they present a clinical picture of acute renal insufficiency of unknown aetiology. This fact was no suspected initially but thanks to the help of ultrasound and the clinical history it was possible to diagnose as an acute interstitial nephritis due to hypersensitivity to drugs. The classification of this illness is revised as well as its etiopathogenic clinical picture and ultrasound diagnosis

  15. Chronic interstitial pneumonia with honeycombing in coal workers

    Energy Technology Data Exchange (ETDEWEB)

    Brichet, A.; Tonnel, A.B.; Brambilla, E.; Devouassoux, G.; Remy-Jardin, M.; Copin, M.C.; Wallaert, B. [A. Calmette Hospital, Lille (France)

    2002-10-01

    Coal worker's pneumoconiosis (CWP) results from coal mine dust inhalation. The paper reports the presence of a chronic interstitial pneumonia (CIP) with honeycombing in 38 cases of coal miners, with or without CWP. The 38 patients were selected on the basis of clinical criteria which are unusual in CWP, i.e. fine inspiratory crackles and severe dyspnea. There were 37 men and one woman; mean age was 67.5 {+-} 9.1 years. Thirty-two were smokers. Duration of exposure was 26.7 {+-} 9.9 years. All the patients had clinical examination, chest radiography, computed tomography (CT), lung function, laboratory investigations, wedged fiberoptic bronchoscopy with bronchoalveolar lavage (BAL). In eight cases, lung specimens were obtained. Seventeen out of 38 had finger clubbing. 17 had radiological signs of CWP limited to the upper lobes or diffusely distributed. CT showed honeycombing (36 cases), and/or ground glass opacities (30 cases) with traction bronchiectasis (8 cases) predominant in the lower lobes. BAL analysis demonstrated an increased percentage of neutrophils (9.4% {+-} 6). Lung function showed a restrictive pattern associated with a decreased DLCO and hypoxemia. Lung specimens demonstrated in 2 cases a homogenous interstitial fibrosis of intra-alveolar septum with an accumulation of immune and inflammatory cells without temporal variation and with obvious honeycombing. The 6 other cases showed features of usual interstitial pneumonia. These cases, should alert other clinicians to a possible association between CIP with honeycombing and coal dust exposure, with or without associated CWP.

  16. Airway-centered interstitial fibrosis: etiology, clinical findings and prognosis.

    Science.gov (United States)

    Kuranishi, Lilian Tiemi; Leslie, Kevin O; Ferreira, Rimarcs Gomes; Coletta, Ester Aparecida Ney; Storrer, Karin Mueller; Soares, Maria Raquel; de Castro Pereira, Carlos Alberto

    2015-05-09

    Airway-centered Interstitial Fibrosis (ACIF) is a common pathologic pattern observed in our practice. The objectives of this study are to describe the causes associated with ACIF in a large sample of patients and its effect on survival. A retrospective study in three centers of interstitial lung disease in São Paulo, between January of 1995 and December of 2012. The surgical lung biopsy specimens were reviewed by three pathologists. The clinical, functional and tomographic findings were analyzed by a standardized protocol. There were 68 cases of ACIF, most of them women. The mean age was 57 ± 12 yr. Dyspnea, cough, restrictive pattern at spirometry and oxygen desaturation at exercise were common. A reticular pattern with peribronchovascular infiltrates was found in 79% of the cases. The etiologies of ACIF were hypersensitivity pneumonitis in 29 (42.6%), gastroesophageal reflux disease in 17 (25.0%), collagen vascular disease in 4 (5.9%), a combination of them in 15 cases and idiopathic in 3 (4.4%). The median survival was 116 months (95% CI = 58.5 - 173.5). Lower values of oxygen saturation at rest, presence of cough and some histological findings--organizing tissue in the airways, fibroblastic foci and microscopic honeycombing--were predictors of worse survival. ACIF is an interstitial lung disease with a better survival when compared with IPF. The main etiologies are HP and GERD. The oxygen saturation at rest, the presence of cough and some histological findings are predictors of survival.

  17. The Multifaceted Aspects of Interstitial Lung Disease in Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Lorenzo Cavagna

    2013-01-01

    Full Text Available Interstitial lung disease (ILD is a relevant extra-articular manifestation of rheumatoid arthritis (RA that may occur either in early stages or as a complication of long-standing disease. RA related ILD (RA-ILD significantly influences the quoad vitam prognosis of these patients. Several histopathological patterns of RA-ILD have been described: usual interstitial pneumonia (UIP is the most frequent one, followed by nonspecific interstitial pneumonia (NSIP; other patterns are less commonly observed. Several factors have been associated with an increased risk of developing RA-ILD. The genetic background plays a fundamental but not sufficient role; smoking is an independent predictor of ILD, and a correlation with the presence of rheumatoid factor and anti-cyclic citrullinated peptide antibodies has also been reported. Moreover, both exnovo occurrence and progression of ILD have been related to drug therapies that are commonly prescribed in RA, such as methotrexate, leflunomide, anti-TNF alpha agents, and rituximab. A greater understanding of the disease process is necessary in order to improve the therapeutic approach to ILD and RA itself and to reduce the burden of this severe extra-articular manifestation.

  18. Rheumatoid Arthritis (RA) associated interstitial lung disease (ILD).

    LENUS (Irish Health Repository)

    O'Dwyer, David N

    2013-10-01

    Rheumatoid Arthritis (RA) is the most common Connective Tissue Disease (CTD) and represents an increasing burden on global health resources. Interstitial lung disease (ILD) has been recognised as a complication of RA but its potential for mortality and morbidity has arguably been under appreciated for decades. New studies have underscored a significant lifetime risk of ILD development in RA. Contemporary work has identified an increased risk of mortality associated with the Usual Interstitial Pneumonia (UIP) pattern which shares similarity with the most devastating of the interstitial pulmonary diseases, namely Idiopathic Pulmonary Fibrosis (IPF). In this paper, we discuss recent studies highlighting the associated increase in mortality in RA-UIP. We explore associations between radiological and histopathological features of RA-ILD and the prognostic implications of same. We emphasise the need for translational research in this area given the growing burden of RA-ILD. We highlight the importance of the respiratory physician as a key stakeholder in the multidisciplinary management of this disorder. RA-ILD focused research offers the opportunity to identify early asymptomatic disease and define the natural history of this extra articular manifestation. This may provide a unique opportunity to define key regulatory fibrotic events driving progressive disease. We also discuss some of the more challenging and novel aspects of therapy for RA-ILD.

  19. Multidisciplinary discussion (MDD in interstitial lung disease; some reflections

    Directory of Open Access Journals (Sweden)

    Colby TV

    2014-07-01

    Full Text Available No abstract available. Article truncated at 150 words. Multidisciplinary discussion (MDD has been used in many disciplines in medicine, notably in thoracic oncology for some two decades (1. MDD at a multidisciplinary conference (MDC formalizes activities that have also gone under the label of case conferences, tumor boards, etc. and this practice is time- honored in medical practice. In the setting of interstitial lung disease (ILD, especially the idiopathic interstitial pneumonias (IIPs and IPF MDD conducted by a “multidisciplinary team” (MDT and is now the “gold standard” for diagnosis in this clinical setting (2 and is recommended in the 2011 guidelines for IPF and the 2013 guidelines for IIPs (3, 4. Clinical-pathologic correlation, clinical-radiologic-pathologic correlation and clinical-radiologic correlation have been integral to the study of interstitial lung disease since early work of Heitzman (5, Carrington and Gaensler (6 and many others. This represents the conceptual framework on which the Fleischner Society: “…an international, multidisciplinary medical society for thoracic ...

  20. A comparison in cosmetic outcome between per-operative interstitial breast implants and delayed interstitial breast implants after external beam radiotherapy

    NARCIS (Netherlands)

    Pieters, Bradley R.; Hart, Augustinus A. M.; Russell, Nicola S.; Jansen, Edwin P. M.; Peterse, Johannes L.; Borger, Jacques; Rutgers, Emiel J. Th

    2003-01-01

    Background and purpose: Interstitial implants for brachytherapy boost in the breast conserving therapy of breast cancer can be performed in two ways; implants during the tumor excision (per-operative implants) or after the external beam therapy (delayed interstitial implants). Differences in

  1. Targeted gene deletion in Zygosaccharomyces bailii.

    Science.gov (United States)

    Mollapour, M; Piper, P

    2001-01-30

    Yeasts of the genus Zygosaccharomyces are notable agents of large-scale food spoilage. Despite the economic importance of these organisms, little is known about the stress adaptations whereby they adapt to many of the more severe conditions of food preservation. In this study it was shown that genes of Z. bailii, a yeast notable for its high resistances to food preservatives and ethanol, can be isolated by complementation of the corresponding mutant strains of Saccharomyces cerevisiae. It was also discovered that the acquisition by S. cerevisiae of a single small Z. bailii gene (ZbYME2) was sufficient for the former yeast to acquire the ability to degrade two major food preservatives, benzoic acid and sorbic acid. Using DNA cassettes containing dominant selectable markers and methods originally developed for performing gene deletions in S. cerevisiae, the two copies of ZbYME2 in the Z. bailii genome were sequentially deleted. The resulting Zbyme2/Zbyme2 homozygous deletant strain had lost any ability to utilize benzoate as sole carbon source and was more sensitive to weak acid preservatives during growth on glucose. Thus, ZbYME2, probably the nuclear gene for a mitochondrial mono-oxygenase function, is essential for Z. bailii to degrade food preservatives. This ability to catabolize weak acid preservatives is a significant factor contributing to the preservative resistance of Z. bailii under aerobic conditions. This study is the first to demonstrate that it is possible to delete in Z. bailii genes that are suspected as being important for growth of this organism in preserved foods and beverages. With the construction of further mutant of Z. bailii strains, a clearer picture should emerge of how this yeast adapts to the conditions of food preservation. This information will, in turn, allow the design of new preservation strategies. GenBank Accession Nos: ZbURA3 (AF279259), ZbTIM9 (AF279260), ZbYME2 (AF279261), ZbTRP1 (AF279262), ZbHHT1(AF296170). Copyright 2000 John

  2. Interstitial Fluid Flow: The Mechanical Environment of Cells and Foundation of Meridians

    Directory of Open Access Journals (Sweden)

    Wei Yao

    2012-01-01

    Full Text Available Using information from the deep dissection, microobservation, and measurement of acupoints in the upper and lower limbs of the human body, we developed a three-dimensional porous medium model to simulate the flow field using FLUENT software and to study the shear stress on the surface of interstitial cells (mast cells caused by interstitial fluid flow. The numerical simulation results show the following: (i the parallel nature of capillaries will lead to directional interstitial fluid flow, which may explain the long interstitial tissue channels or meridians observed in some experiments; (ii when the distribution of capillaries is staggered, increases in the velocity alternate, and the velocity tends to be uniform, which is beneficial for substance exchange; (iii interstitial fluid flow induces a shear stress, with magnitude of several Pa, on interstitial cell membranes, which will activate cells and lead to a biological response; (iv capillary and interstitial parameters, such as capillary density, blood pressure, capillary permeability, interstitial pressure, and interstitial porosity, affect the shear stress on cell surfaces. The numerical simulation results suggest that in vivo interstitial fluid flow constitutes the mechanical environment of cells and plays a key role in guiding cell activities, which may explain the meridian phenomena and the acupuncture effects observed in experiments.

  3. Evaluation of prostaglandin E2 and E-series prostaglandin receptor in patients with interstitial cystitis.

    Science.gov (United States)

    Wada, Naoki; Ameda, Kaname; Furuno, Tsuyoshi; Okada, Hiroki; Date, Ichiro; Kakizaki, Hidehiro

    2015-06-01

    We evaluated PGE2 and EP receptor in patients with interstitial cystitis. Enrolled in the study were 20 female patients with interstitial cystitis (11 with and 9 without Hunner lesions), 9 female controls with another urological disease who needed a cystoscopic procedure and 10 normal volunteers. In all participants we determined O'Leary-Sant symptom and problem scores, and obtained voluntary urine specimens for PGE2 analysis. Using anesthesia the bladder was distended by saline in stepwise fashion from 100 ml to maximum capacity in patients with interstitial cystitis. Each time the infused saline was retrieved for PGE2 analysis. We also measured PGE2 and the expression of EP receptor mRNA in bladder biopsy tissue in patients with interstitial cystitis. Symptom and problem indexes in patients with interstitial cystitis and Hunner lesions were significantly higher than in patients with interstitial cystitis without Hunner lesions. Urinary PGE2 in patients with interstitial cystitis and Hunner lesions was significantly higher than in patients with interstitial cystitis without lesions, controls and normal volunteers. PGE2 in retrieved saline in patients with interstitial cystitis and Hunner lesions increased depending on infusion volume but not in patients with interstitial cystitis without lesions. PGE2 content in bladder biopsy tissue was significantly higher in patients with interstitial cystitis and Hunner lesions than in controls. In patients with interstitial cystitis and Hunner lesions the expression of EP1 and EP2 mRNA was significantly higher than in controls. Our study showed increased PGE2 production and mRNA expression of EP1 and EP2 receptors in the bladder in patients with interstitial cystitis and Hunner lesions. Further studies are warranted to explore the pathophysiological and therapeutic implications. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  4. Whole genome HBV deletion profiles and the accumulation of preS deletion mutant during antiviral treatment

    Science.gov (United States)

    2012-01-01

    Background Hepatitis B virus (HBV), because of its error-prone viral polymerase, has a high mutation rate leading to widespread substitutions, deletions, and insertions in the HBV genome. Deletions may significantly change viral biological features complicating the progression of liver diseases. However, the clinical conditions correlating to the accumulation of deleted mutants remain unclear. In this study, we explored HBV deletion patterns and their association with disease status and antiviral treatment by performing whole genome sequencing on samples from 51 hepatitis B patients and by monitoring changes in deletion variants during treatment. Clone sequencing was used to analyze preS regions in another cohort of 52 patients. Results Among the core, preS, and basic core promoter (BCP) deletion hotspots, we identified preS to have the highest frequency and the most complex deletion pattern using whole genome sequencing. Further clone sequencing analysis on preS identified 70 deletions which were classified into 4 types, the most common being preS2. Also, in contrast to the core and BCP regions, most preS deletions were in-frame. Most deletions interrupted viral surface epitopes, and are possibly involved in evading immuno-surveillance. Among various clinical factors examined, logistic regression showed that antiviral medication affected the accumulation of deletion mutants (OR = 6.81, 95% CI = 1.296 ~ 35.817, P = 0.023). In chronic carriers of the virus, and individuals with chronic hepatitis, the deletion rate was significantly higher in the antiviral treatment group (Fisher exact test, P = 0.007). Particularly, preS2 deletions were associated with the usage of nucleos(t)ide analog therapy (Fisher exact test, P = 0.023). Dynamic increases in preS1 or preS2 deletions were also observed in quasispecies from samples taken from patients before and after three months of ADV therapy. In vitro experiments demonstrated that preS2 deletions alone

  5. Method for introducing unidirectional nested deletions

    Science.gov (United States)

    Dunn, J.J.; Quesada, M.A.; Randesi, M.

    1999-07-27

    Disclosed is a method for the introduction of unidirectional deletions in a cloned DNA segment. More specifically, the method comprises providing a recombinant DNA construct comprising a DNA segment of interest inserted in a cloning vector. The cloning vector has an f1 endonuclease recognition sequence adjacent to the insertion site of the DNA segment of interest. The recombinant DNA construct is then contacted with the protein pII encoded by gene II of phage f1 thereby generating a single-stranded nick. The nicked DNA is then contacted with E. coli Exonuclease III thereby expanding the single-stranded nick into a single-stranded gap. The single-stranded gapped DNA is then contacted with a single-strand-specific endonuclease thereby producing a linearized DNA molecule containing a double-stranded deletion corresponding in size to the single-stranded gap. The DNA treated in this manner is then incubated with DNA ligase under conditions appropriate for ligation. Also disclosed is a method for producing single-stranded DNA probes. In this embodiment, single-stranded gapped DNA, produced as described above, is contacted with a DNA polymerase in the presence of labeled nucleotides to fill in the gap. This DNA is then linearized by digestion with a restriction enzyme which cuts outside the DNA segment of interest. The product of this digestion is then denatured to produce a labeled single-stranded nucleic acid probe. 1 fig.

  6. Deletion of ultraconserved elements yields viable mice

    Energy Technology Data Exchange (ETDEWEB)

    Ahituv, Nadav; Zhu, Yiwen; Visel, Axel; Holt, Amy; Afzal, Veena; Pennacchio, Len A.; Rubin, Edward M.

    2007-07-15

    Ultraconserved elements have been suggested to retainextended perfect sequence identity between the human, mouse, and ratgenomes due to essential functional properties. To investigate thenecessities of these elements in vivo, we removed four non-codingultraconserved elements (ranging in length from 222 to 731 base pairs)from the mouse genome. To maximize the likelihood of observing aphenotype, we chose to delete elements that function as enhancers in amouse transgenic assay and that are near genes that exhibit markedphenotypes both when completely inactivated in the mouse as well as whentheir expression is altered due to other genomic modifications.Remarkably, all four resulting lines of mice lacking these ultraconservedelements were viable and fertile, and failed to reveal any criticalabnormalities when assayed for a variety of phenotypes including growth,longevity, pathology and metabolism. In addition more targeted screens,informed by the abnormalities observed in mice where genes in proximityto the investigated elements had been altered, also failed to revealnotable abnormalities. These results, while not inclusive of all thepossible phenotypic impact of the deleted sequences, indicate thatextreme sequence constraint does not necessarily reflect crucialfunctions required for viability.

  7. Are there ethnic differences in deletions in the dystrophin gene?

    Energy Technology Data Exchange (ETDEWEB)

    Banerjee, M.; Verma, I.C. [All India Inst. of Medical Sciences, New Delhi (India)

    1997-01-20

    We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. 38 refs., 2 figs., 3 tabs.

  8. Sexual dimorphism in white campion: deletion on the Y chromosome results in a floral asexual phenotype

    International Nuclear Information System (INIS)

    Farbos, I.; Veuskens, J.; Vyskot, B.; Oliveira, M.; Hinnisdaels, S.; Aghmir, A.; Mouras, A.; Negrutiu, I.

    1999-01-01

    White campion is a dioecious plant with heteromorphic X and Y sex chromosomes. In male plants, a filamentous structure replaces the pistil, while in female plants the stamens degenerate early in flower development. Asexual (asx) mutants, cumulating the two developmental defects that characterize the sexual dimorphism in this species, were produced by gamma ray irradiation of pollen and screening in the M1 generation. The mutants harbor a novel type of mutation affecting an early function in sporogenous/parietal cell differentiation within the anther. The function is called stamen-promoting function (SPF). The mutants are shown to result from interstitial deletions on the Y chromosome. We present evidence that such deletions tentatively cover the central domain on the (p)-arm of the Y chromosome (Y2 region). By comparing stamen development in wild-type female and asx mutant flowers we show that they share the same block in anther development, which results in the production of vestigial anthers. The data suggest that the SPF, a key function(s) controlling the sporogenous/parietal specialization in premeiotic anthers, is genuinely missing in females (XX constitution). We argue that this is the earliest function in the male program that is Y-linked and is likely responsible for ''male dimorphism'' (sexual dimorphism in the third floral whorl) in white campion. More generally, the reported results improve our knowledge of the structural and functional organization of the Y chromosome and favor the view that sex determination in this species results primarily from a trigger signal on the Y chromosome (Y1 region) that suppresses female development. The default state is therefore the ancestral hermaphroditic state

  9. Laparoscopic temporary clipping of uterine and ovarian arteries for the treatment of interstitial ectopic pregnancy.

    Science.gov (United States)

    Guven, S; Guven, E S Guvendag

    2016-01-01

    To assess the effect of laparoscopic temporary clipping of uterine and ovarian arteries for the treatment of interstitial ectopic pregnancy. A 29-year-old woman with vaginal bleeding and pelvic pain was admitted to the current clinic. She had secondary amenorrhea for nine weeks. Transvaginal ultrasonography revealed normal empty uterus and right interstitial ectopic pregnancy with viable embryo. Laparoscopic temporary clipping of uterine and ovarian arteries, interstitial pregnancy resection, and primary myometrial suturing was performed. Following dissection Latzko pararectal space for the visualization of both uterine arteries, four vascular clips were placed (two to uterine arteries, two to infundibulopelvic ligaments). Excision of interstitial pregnancy and primary myometrial suturing was performed with minimal blood loss. The patient was discharged from the hospital after one day without any remarkable complications. To the best of the authors' knowledge, this is the first case of interstitial pregnancy that was successfully treated by temporary laparoscopic clipping of uterine and ovarian vessels prior to interstitial ectopic pregnancy resection.

  10. Clival encephalocele and 5q15 deletion: a case report.

    Science.gov (United States)

    Puvabanditsin, Surasak; Malik, Imran; Garrow, Eugene; Francois, Lissa; Mehta, Rajeev

    2015-03-01

    A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion. © The Author(s) 2014.

  11. Panchromatic cooperative hyperspectral adaptive wide band deletion repair method

    Science.gov (United States)

    Jiang, Bitao; Shi, Chunyu

    2018-02-01

    In the hyperspectral data, the phenomenon of stripe deletion often occurs, which seriously affects the efficiency and accuracy of data analysis and application. Narrow band deletion can be directly repaired by interpolation, and this method is not ideal for wide band deletion repair. In this paper, an adaptive spectral wide band missing restoration method based on panchromatic information is proposed, and the effectiveness of the algorithm is verified by experiments.

  12. NPL deletion policy for RCRA-regulated TSD facilities finalized

    International Nuclear Information System (INIS)

    Anon.

    1995-01-01

    Under a new policy published by EPA on March 20, 1995, certain sites may be deleted from the National Priorities List (NPL) and deferred to RCRA corrective action. To be deleted from the NPL, a site must (1) be regulated under RCRA as a treatment, storage, or disposal (TSD) facility and (2) meet the four criteria specified by EPA. The new NPL deletion policy, which does not pertain to federal TSD facilities, became effective on April 19, 1995. 1 tab

  13. A Comparative Study of Quantum and Classical Deletion

    International Nuclear Information System (INIS)

    Shen Yao; Hao Liang; Long Guilu

    2010-01-01

    Here in this letter, we study the difference between quantum and classical deletion. We point out that the linear mapping deletion operation used in the impossibility proof for quantum systems applies also to classical system. The general classical deletion operation is a combined operation of measurement and transformation, i.e., first read the state and then transfer the state to the standard blank state. Though both quantum information and classical information can be deleted in an open system, quantum information cannot be recovered while classical information can be recovered. (general)

  14. Ruptured Interstitial Ectopic Pregnancy at 18 Weeks Gestation Diagnosed by MRI: A Case Report

    OpenAIRE

    Hamouda, Ehab SM; Littooij, Annemieke S; Thia, Edwin WH; Ong, Chiou L

    2013-01-01

    Ectopic pregnancy in the interstitial part of the fallopian tube is a rare event, associated with a high rate of complications due to delayed diagnosis. Rupture of such pregnancy often results in catastrophic hemorrhage. Several reports highlighted the role of magnetic resonance imaging in establishing the diagnosis of interstitial pregnancy, but magnetic resonance imaging findings of a ruptured advanced interstitial ectopic pregnancy have not been published before. The authors therefore pres...

  15. Patients With Chronic Pelvic Pain: Endometriosis or Interstitial Cystitis/Painful Bladder Syndrome?

    OpenAIRE

    Butrick, Charles W.

    2007-01-01

    Background: Endometriosis and interstitial cystitis/painful bladder syndrome share similar symptoms. Interstitial cystitis was once considered rare, but it is now recognized as more common than previously thought. This review examines evidence that patients presenting with symptoms typically attributed to endometriosis or with unresolved pelvic pain after treatment for endometriosis may, in fact, have interstitial cystitis, and suggests approaches for appropriate diagnosis. Methods: A MedLine...

  16. Ruptured interstitial ectopic pregnancy at 18 weeks gestation diagnosed by MRI: a case report.

    Science.gov (United States)

    Hamouda, Ehab S M; Littooij, Annemieke S; Thia, Edwin W H; Ong, Chiou L

    2013-10-01

    Ectopic pregnancy in the interstitial part of the fallopian tube is a rare event, associated with a high rate of complications due to delayed diagnosis. Rupture of such pregnancy often results in catastrophic hemorrhage. Several reports highlighted the role of magnetic resonance imaging in establishing the diagnosis of interstitial pregnancy, but magnetic resonance imaging findings of a ruptured advanced interstitial ectopic pregnancy have not been published before. The authors therefore present characteristic findings on magnetic resonance imaging of a ruptured interstitial ectopic pregnancy which had reached 18 weeks, in a 25-year-old woman who presented with acute abdominal pain.

  17. Medical treatment of interstitial pregnancy. A report of three unsuccessful cases.

    Science.gov (United States)

    Barnhart, K; Spandorfer, S; Coutifaris, C

    1997-08-01

    Medical management of ectopic pregnancy is effective in selected cases and is recommended to treat interstitial pregnancy to avoid surgery that may limit future fertility. Although successful medical management of interstitial pregnancy has been reported, evidence does not support success rates equal to that in other ectopic locations. Four cases of interstitial ectopic pregnancy were identified. Only one of the four was successfully treated with medical therapy. Case 1 was a confirmed, 2.5-cm interstitial pregnancy that failed a multiple-dose methotrexate protocol. Case 2 was an unrecognized interstitial pregnancy that failed single-dose therapy. Case 3 was a rupture of a medically managed interstitial pregnancy despite complete resolution of serum human chorionic gonadotropin. A literature review demonstrated an overall combined failure rate of 35% (7/20). Compared with an isthmic or ampullary pregnancy, a disproportionate number of patients with interstitial pregnancy fail medical management and require emergency surgery. The presence of a documented interstitial pregnancy is not an absolute contraindication to medical management. Patients should be counseled that medical management of an interstitial pregnancy may not have the same rate of success as it does in other locations in the fallopian tube. Surgery in this case may be the preferred treatment option.

  18. Ultrastructure of interstitial cells of Cajal in myenteric plexus of human colon

    DEFF Research Database (Denmark)

    Rumessen, Jüri Johs.; Vanderwinden, Jean-Marie; Rasmussen, Helle

    2009-01-01

    The role of the interstitial cells of Cajal (ICC) associated with the myenteric plexus (ICC-MP) as regulators of the motility of the colonic external muscle remains unclear. Ultrastructural studies of myenteric interstitial cells are lacking in human colon. We therefore characterized the distinct......The role of the interstitial cells of Cajal (ICC) associated with the myenteric plexus (ICC-MP) as regulators of the motility of the colonic external muscle remains unclear. Ultrastructural studies of myenteric interstitial cells are lacking in human colon. We therefore characterized...

  19. Effect of Interstitial Media on Segregation in Vertically Vibrated Granular Mixtures

    International Nuclear Information System (INIS)

    Yuan Xiao-Xian; Wen Ping-Ping; Shi Qing-Fan; Zheng Ning; Li Liang-Sheng

    2013-01-01

    Vertically vibrated segregation behaviors of binary granular mixtures with different interstitial media are experimentally investigated. To study the role of interstitial media on the segregation, two types of interstitial fluids are adopted and the resulting phase diagrams are compared. The water-immersed granular mixture exhibits two kinds of complete segregation behaviors: Brazil nut effect and sandwich patterns, at least the latter is absent in the same air-immersed mixture. Additionally, the segregation extent is improved remarkably for the water-immersed mixture. The experimental observation further confirms that the effect of interstitial media on the relative motion of grains is one of the predominant mechanisms for granular segregation

  20. Basal interstitial water pressure in laboratory debris flows over a rigid bed in an open channel

    Directory of Open Access Journals (Sweden)

    N. Hotta

    2012-08-01

    Full Text Available Measuring the interstitial water pressure of debris flows under various conditions gives essential information on the flow stress structure. This study measured the basal interstitial water pressure during debris flow routing experiments in a laboratory flume. Because a sensitive pressure gauge is required to measure the interstitial water pressure in shallow laboratory debris flows, a differential gas pressure gauge with an attached diaphragm was used. Although this system required calibration before and after each experiment, it showed a linear behavior and a sufficiently high temporal resolution for measuring the interstitial water pressure of debris flows. The values of the interstitial water pressure were low. However, an excess of pressure beyond the hydrostatic pressure was observed with increasing sediment particle size. The measured excess pressure corresponded to the theoretical excess interstitial water pressure, derived as a Reynolds stress in the interstitial water of boulder debris flows. Turbulence was thought to induce a strong shear in the interstitial space of sediment particles. The interstitial water pressure in boulder debris flows should be affected by the fine sediment concentration and the phase transition from laminar to turbulent debris flow; this should be the subject of future studies.

  1. Validity of Ultrasound Lung Comets for Assessment of the Severity of Interstitial Pneumonia.

    Science.gov (United States)

    Asano, Mariko; Watanabe, Hiroyuki; Sato, Kazuhiro; Okuda, Yuji; Sakamoto, Sho; Hasegawa, Yukiyasu; Sudo, Kazuhisa; Takeda, Masahide; Sano, Masaaki; Kibira, Satoshi; Ito, Hiroshi

    2017-11-30

    Ultrasound (US) lung comets are often observed in patients with interstitial lung disease or congestive heart failure, but few studies have explored the clinical importance of US lung comets in patients with the former condition. We explored whether the US lung comet number could be used to assess the severity of interstitial pneumonia. Forty stable patients with interstitial pneumonia were examined. Lung comets evident on transthoracic US imaging in 12 selected regions of the posterior chest wall were analyzed. We defined lung comets accompanied by thickened and irregular pleural lines as interstitial US lung comets; these predominated in patients with interstitial pneumonia. The total number of interstitial US lung comets was correlated with the data from chest high-resolution computed tomography, pulmonary function tests, serologic tests, and the 6-minute walk test. The 40 patients included 16 with idiopathic pulmonary fibrosis and 24 with nonspecific interstitial pneumonia. Thirty-four patients had interstitial US lung comets, which were more common in the lower than the upper lung area. Good correlations were evident between the lung comet number and the extent of the reticular pattern on chest high-resolution computed tomography (r = 0.710; P comet number had a strong negative correlation with the percutaneous oxygen saturation level after the 6-minute walk test (r = -0.751; P comets evident on transthoracic US imaging may be a valuable marker of disease severity in patients with interstitial pneumonia. © 2017 by the American Institute of Ultrasound in Medicine.

  2. HRCT appearances of pulmonary interstitial diseases. The pathologic basis and clinical diagnostic significance

    International Nuclear Information System (INIS)

    Ma Daqing; Li Tieyi; Guan Yansheng; He Wen; Nie Yongkang

    1999-01-01

    Objective: To evaluate the CT appearances, the pathologic basis and diagnostic significance of pulmonary interstitial diseases. methods: 14 isolated lungs with interstitial diseases were obtained at autopsy and surgery. The lungs were inflated and fixed. HRCT and 1 cm thin slice soft X-ray radiograph were performed and then histologic examination was done. HRCT images of 72 cases with interstitial diseases were analysed. The HRCT appearances of 10 cases were followed up for 1.5-7.0 years. Results: According to HRCT-pathologic correlation, pulmonary interstitial diseases had the following HRCT findings: (1) Intralobular interstitial thickening (33 cases, 46%), including fine linear, reticular and radiating appearances and the interface sign. (2) Interlobular septal thickening (24 cases, 33%). (3) Thickening of bronchovesicular bundles (35 cases, 49%), with coarse, blurred or smooth bundle, and nodular shape. (4) Subpleural lines (31 cases, 43%). (5) Ground-glass opacity (22 cases, 31%) with peripheral, diffuse or locular distribution. (6) Honeycombing (27 cases, 38%), having sizes: 5 mm. Of the 10 cases with follow-up, 2 cases became normal on CT and 8 cases progressing to honeycombed lung. Conclusions: The HRCT findings of pulmonary interstitial diseases represent abnormalities of axial, peripheral and septal interstitium. Interstitial fibrosis of the lung can be differentiated from that without fibrosis by HRCT. Ground-glass opacity, intralobular interstitial thickening and subpleural lines are preliminary findings of pulmonary interstitial fibrosis

  3. Klf5 deletion promotes Pten deletion-initiated luminal-type mouse prostate tumors through multiple oncogenic signaling pathways.

    Science.gov (United States)

    Xing, Changsheng; Ci, Xinpei; Sun, Xiaodong; Fu, Xiaoying; Zhang, Zhiqian; Dong, Eric N; Hao, Zhao-Zhe; Dong, Jin-Tang

    2014-11-01

    Krüppel-like factor 5 (KLF5) regulates multiple biologic processes. Its function in tumorigenesis appears contradictory though, showing both tumor suppressor and tumor promoting activities. In this study, we examined whether and how Klf5 functions in prostatic tumorigenesis using mice with prostate-specific deletion of Klf5 and phosphatase and tensin homolog (Pten), both of which are frequently inactivated in human prostate cancer. Histologic analysis demonstrated that when one Pten allele was deleted, which causes mouse prostatic intraepithelial neoplasia (mPIN), Klf5 deletion accelerated the emergence and progression of mPIN. When both Pten alleles were deleted, which causes prostate cancer, Klf5 deletion promoted tumor growth, increased cell proliferation, and caused more severe morphologic and molecular alterations. Homozygous deletion of Klf5 was more effective than hemizygous deletion. Unexpectedly, while Pten deletion alone expanded basal cell population in a tumor as reported, Klf5 deletion in the Pten-null background clearly reduced basal cell population while expanding luminal cell population. Global gene expression profiling, pathway analysis, and experimental validation indicate that multiple mechanisms could mediate the tumor-promoting effect of Klf5 deletion, including the up-regulation of epidermal growth factor and its downstream signaling molecules AKT and ERK and the inactivation of the p15 cell cycle inhibitor. KLF5 also appears to cooperate with several transcription factors, including CREB1, Sp1, Myc, ER and AR, to regulate gene expression. These findings validate the tumor suppressor function of KLF5. They also yield a mouse model that shares two common genetic alterations with human prostate cancer-mutation/deletion of Pten and deletion of Klf5.

  4. "I feel stupid I can't delete..."::a study of users' cloud deletion practices and coping strategies

    OpenAIRE

    Ramokapane, Kopo Marvin; Rashid, Awais; Such, Jose

    2017-01-01

    Deletion of data from cloud storage and services is an important aspect of privacy and security. But how easy or simple a task is it for users to complete? Cloud users' deletion practices, challenges and coping strategies have not been well studied to date. We undertook an exploratory study to better understand this issue. Through in-depth semi-structured interviews and use of deletion scenarios with 26 subjects, we explored several key questions: why and when cloud users would like to delete...

  5. Optimizing the shape of ultrasound transducers for interstitial thermal ablation

    International Nuclear Information System (INIS)

    Lafon, Cyril; Melo de Lima, David; Theillere, Yves; Prat, Frederic; Chapelon, Jean-Yves; Cathignol, Dominique

    2002-01-01

    Heat deposition by interstitial routes, especially with ultrasound-based instruments, is becoming a valuable therapeutic option for the treatments of sites, which are difficult to access from outside of the body. The active part of most interstitial ultrasound applicators described in the literature is logically tubular to induce cylindrical volumes of coagulation necrosis. Because the pressure generated by such tubular transducers falls off rapidly with radial distance, we previously proposed using a rotating plane transducer. For a plane wave, the pressure fall-off is only due to attenuation, which makes deeper lesions and shorter treatment times possible. This work represents an advance in the development of ultrasound applicators designed for interstitial applications. This new applicator used a rotating slightly focused transducer. A brief theoretical analysis resulted in the choice of a long focal distance of 22 mm to obtain a nearly constant pressure all along the therapeutic depth. To experimentally validate this focal distance, pressure measurements were made in a tissue mimicking liquid phantom and the results were compared with those obtained with a plane transducer. In vitro experiments showed that necrosis could be induced at a depth of 15 mm. In the same conditions, the greatest depth attained with a plane transducer was only 10 mm. Because each individual lesion is narrower, more lesions and more time are required to necrose a cylindrical volume. The main advantage of this new type of applicator is that it can be used to induce necrosis at a greater depth without varying either the frequency, the intensity or the transducer cooling efficiency

  6. Interstitial cells of Cajal mediate mechanosensitive responses in the stomach

    Science.gov (United States)

    Won, Kyung-Jong; Sanders, Kenton M.; Ward, Sean M.

    2005-10-01

    Changes in motor activity are a basic response to filling of smooth muscle organs. Responses to gastric filling, for example, are thought to be regulated by neural reflexes. Here, we demonstrate a previously uncharacterized aspect of stretch-dependent responses in visceral smooth muscles that is mediated by mechanosensitive interstitial cells of Cajal. Length ramps were applied to the murine antral muscles while recording intracellular electrical activity and isometric force. Stretching muscles by an average of 27 ± 1% of resting length resulted in 5 mN of force. Increasing length caused membrane depolarization and increased slow-wave frequency. The responses were dependent on the rate of stretch. Stretch-dependent responses were not inhibited by neuronal antagonists or nifedipine. Increases in slow-wave frequency, but not membrane depolarization, were inhibited by reducing external Ca2+ (100 μM) and by Ni2+ (250 μM). Responses to stretch were inhibited by indomethacin (1 μM) and were absent in cyclooxygenase II-deficient mice, suggesting that cyclooxygenase II-derived eicosanoids may mediate these responses. Dual microelectrode impalements of muscle cells within the corpus and antrum showed that stretch-induced changes in slow-wave frequency uncoupled proximal-to-distal propagation of slow waves. This uncoupling could interfere with gastric peristalsis and impede gastric emptying. Stretch of antral muscles of W/WV mice, which lack intramuscular interstitial cells of Cajal, did not affect membrane depolarization or slow-wave frequency. These data demonstrate a previously uncharacterized nonneural stretch reflex in gastric muscles and provide physiological evidence demonstrating a mechanosensitive role for interstitial cells of Cajal in smooth muscle tissues. gastric compliance | pacemaker | stretch | slow waves | propagation

  7. Deletion variant near ZNF389 is associated with control of ovine lentivirus in multiple sheep flocks

    Science.gov (United States)

    White, S N; Mousel, M R; Reynolds, J O; Herrmann-Hoesing, L M; Knowles, D P

    2014-01-01

    Ovine lentivirus (OvLV) is a macrophage-tropic lentivirus found in many countries that causes interstitial pneumonia, mastitis, arthritis and cachexia in sheep. There is no preventive vaccine and no cure, but breed differences suggest marker-assisted selective breeding might improve odds of infection and control of OvLV post-infection. Although variants in TMEM154 have consistent association with odds of infection, no variant in any gene has been associated with host control of OvLV post-infection in multiple animal sets. Proviral concentration is a live-animal diagnostic measure of OvLV control post-infection related to severity of OvLV-induced lesions. A recent genome-wide association study identified a region including four zinc finger genes associated with proviral concentration in one Rambouillet flock. To refine this region, we tested additional variants and identified a small insertion/deletion variant near ZNF389 that showed consistent association with proviral concentration in three animal sets (P sheep from multiple locations and management conditions. Strikingly, one flock had exceptionally high prevalence (>87%, including yearlings) and mean proviral concentration (>950 copies/μg), possibly due to needle sharing. The best estimate of proviral concentration by genotype, obtained from all 1310 OvLV-positive animals tested, showed insertion homozygotes had less than half the proviral concentration of other genotypes (P sheep flocks. PMID:24303974

  8. Usual interstitial pneumonia in adult-onset still's disease

    International Nuclear Information System (INIS)

    Rodelo, Joaquin; Gonzalez, Luis Alonso; Velasquez, Monica Patricia; Vasquez, Gloria; Uribe, Oscar; Perez, Maria del Pilar; Ramirez, Luis Alberto

    2005-01-01

    Adult-onset still's disease (AOSD) is a multi-system inflammatory disorder of unknown origin, characterized by high spiking fevers, evanescent salmon colored rash, arthralgias or arthritis, hepatospleno-megaly, Iymphadenopathy and sore throat. It is not uncommon for AOSD to involve other organs, such as the liver, the kidney; the bone marrow and less often the lungs. Pulmonary involvement ranges from 30 to 40 % (0 to 53 %), the pulmonary manifestations of AOSD include pleurisy, acute pneumonitis and even the acute respiratory distress syndrome. We present a case of a patient with AOSD who developed an interstitial lung disease and reviewed the literature on it

  9. Interstitial cells in the musculature of the gastrointestinal tract

    DEFF Research Database (Denmark)

    Rumessen, Jüri J; Vanderwinden, Jean-Marie

    2003-01-01

    , the ultrastructure and light microscopic morphology, as well as the functions and the development of ICC and of neighboring fibroblast-like cells (FLC), are critically reviewed. Directions for future research are considered and a unifying concept of mesenchymal cells, either KIT positive (the "ICC") or KIT negative...... "non-Cajal" (including the FLC and possibly also other cell types) cell types in the interstitium of the smooth musculature of the gastrointestinal tract, is proposed. Furthermore, evidence is accumulating to suggest that, as postulated by Santiago Ramon y Cajal, the concept of interstitial cells...

  10. What is new in bladder pain syndrome/interstitial cystitis?

    DEFF Research Database (Denmark)

    Hanno, P.; Nordling, J.; Ophoven, A. van

    2008-01-01

    and nomenclature are ongoing. Some new treatments have been reported that may be of benefit. Summary In the age of the internet, it is incumbent upon the clinician to keep up with current ideas, epidemiology, and treatment findings to be able to discuss these with well informed patients who come to clinics around......Purpose of review Bladder pain syndrome/interstitial cystitis is an important and poorly understood disorder. This review highlights current research findings that may be of benefit to the clinician who is responsible for the diagnosis and treatment of patients who suffer from this condition...

  11. [Interstitial cystitis : Diagnosis and pharmacological and surgical therapy].

    Science.gov (United States)

    Gonsior, A; Neuhaus, J; Horn, L C; Bschleipfer, T; Stolzenburg, J-U

    2017-06-01

    Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic debilitating condition which generally has a severely negative impact on quality of life. An autoimmune genetic predisposition correlates with the theory of pathogenesis. Diagnosis requires history, diaries, physical examination, exclusion of other diseases, cystoscopy with or without hydrodistension and/or bladder biopsy. Novel biological markers are upcoming but not established. Behavioural, pharmacological oral and intravesical, interventional and surgical therapies with a wide range of reported success are available. A multimodal approach is recommended, although most of the therapeutic options lack a high degree of evidence.

  12. Respiratory and lower limb muscle function in interstitial lung disease.

    Science.gov (United States)

    Panagiotou, Marios; Polychronopoulos, Vlasis; Strange, Charlie

    2016-05-01

    Growing evidence suggests that respiratory and limb muscle function may be impaired in patients with interstitial lung disease (ILD). Importantly, muscle dysfunction could promote dyspnoea, fatigue and functional limitation all of which are cardinal features of ILD. This article examines the risk factors for skeletal muscle dysfunction in ILD, reviews the current evidence on overall respiratory and limb muscle function and focuses on the occurrence and implications of skeletal muscle dysfunction in ILD. Research limitations and pathways to address the current knowledge gaps are highlighted. © The Author(s) 2016.

  13. Strongyloidiasis with gastric mucosal invasion presenting with acute interstitial nephritis.

    Science.gov (United States)

    Bangs, Michael J; Sirait, Sontan; Purnomo; Maguire, Jason D

    2006-07-01

    We report an atypical occurrence of invasive Strongyloides stercoralis infection of the stomach mucosa in an elderly female patient from Bangka Island, northwestern Indonesia. The patient presented with severe epigastric pain, edema of the legs, proteinuria and severe hypoalbuminemia. Gastric and duodenal biopsies found eggs, larval and adult forms present in the superficial mucosa with mild inflammation. The Harada-Mori filter paper culture technique revealed S. stercoralis filariform larvae and free-living adult worms, corroborating the diagnosis. The infection was associated with acute interstitial nephritis. The patient showed rapid and dramatic improvement after treatment with mebendazole.

  14. A case of Amyopathic Dermatomyositis associated with Interstitial Pulmonary Disease.

    Science.gov (United States)

    Ugan, Y; Sahin, M; Dogru, A; Bayram, D; Ceyhan, A M; Tunc, S E

    2015-01-01

    Inflammatory myopathies are a heterogeneous group of diseases with unknown etiology characterized by inflammation of the skeletal muscles and proximal muscle weakness. Dermatomyositis (DM) is an idiopathic inflammatory myopathy with characteristic cutaneous findings such as heliotrope rash, Gottron's sign, Gottron's papules, shawl sign and machinist hand. Amyopathic dermatomyositis (ADM) is a rare but well-recognized clinical subtype of DM, constituting aproximately 10-20% of patients with this disease. It generally manifests only pathognomonic skin findings without clinical and laboratory evidence of muscle involvement. In this report, we present a rare case of ADM associated with interstitial pulmonary disease.

  15. Predicting Plasma Glucose From Interstitial Glucose Observations Using Bayesian Methods

    DEFF Research Database (Denmark)

    Hansen, Alexander Hildenbrand; Duun-Henriksen, Anne Katrine; Juhl, Rune

    2014-01-01

    One way of constructing a control algorithm for an artificial pancreas is to identify a model capable of predicting plasma glucose (PG) from interstitial glucose (IG) observations. Stochastic differential equations (SDEs) make it possible to account both for the unknown influence of the continuous...... glucose monitor (CGM) and for unknown physiological influences. Combined with prior knowledge about the measurement devices, this approach can be used to obtain a robust predictive model. A stochastic-differential-equation-based gray box (SDE-GB) model is formulated on the basis of an identifiable...

  16. Childhood acromegaly successfully treated with interstitial irradiation using Yttrium-90

    International Nuclear Information System (INIS)

    Rosenstock, J.; Doyle, F.H.; Mashiter, K.; Joplin, G.F.

    1982-01-01

    A child with a growth hormone producing tumour presented at the age of 4 1/2 years. The onset of the disease was at 18 months of age. Treatment was given with three doses of interstitial irradiation using yttrium-90 implants. There were no local complications from the procedures. Now, 11 years after diagnosis, she is asymptomatic, of normal appearance, and her height and the size of the pituitary fossa are normal. Growth hormone levels are almost normal, thyroid function is intact, and she is maintained on prednisone and sex hormones. (Authors)

  17. AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion.

    Science.gov (United States)

    Tóth, A; Tardy, E P; Gombos, S; Hajdu, K; Bátorfi, J; Krausz, C

    2001-04-01

    A case of prenatally diagnosed Yq deletion is described. Fluorescence in situ hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound investigation the pregnancy was continued. A newborn with normal male genitalia was delivered. Microdeletion analysis of the Yq showed the absence of the AZFc region. This type of deletion has been described as being associated with azoospermia or oligozoospermia with a progressive decrease of sperm number over time. Long-term andrological follow-up of the newborn will be necessary with eventual cryoconservation of sperm at early adulthood. The present report proposes that AZF analysis combined with FISH has an important role in accurate genetic counselling in sex chromosome anomalies. Copyright 2001 John Wiley & Sons, Ltd.

  18. Histopathological approach to patterns of interstitial pneumonia in patient with connective tissue disorders.

    Science.gov (United States)

    Nicholson, Andrew G; Colby, Thomas V; Wells, Athol U

    2002-03-01

    It is well established that some patients with connective tissue disorders will suffer from pulmonary disease at some stage in their disease progression. This article concentrates on the interstitial pneumonias, seen in association with most types of connective tissue disorder, particularly in the ligh of non-specific interstitial pneumonia (NSIP) being recognised as a distinct histological pattern. Most published articles on this subject precede recognition of NSIP and, as such, the relative incidence of patterns of interstitial pneumonia, as defined by the International Consensus Classification Committee for Interstitial Lung Disease (ICCILD), as well as the clinical and prognostic significance of these patterns is undergoing further scrutiny. In this review, the recognised histological patterns, namely usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP), diffuse alveolar damage (DAD), organising pneumonia (OP), reactive pulmonary lymphoid hyperplasia, desquamative interstitial pneumonia (DIP) and respiratory bronchiolitis-associated interstitial lung disease (RBILD) are reviewed systematically in relation to the various subgroups of connective tissue disorders. As yet, there are few published studies, but current evidence suggests that many cases previously classified as fibrosing alveolitis are likely to show a pattern of NSIP rather than UIP, particularly in relation to systemic sclerosis. The histological pattern of usual interstitial pneumonia, the most frequently seen pattern in biopsies from patients with idiopathic pulmonary fibrosis/cryptogenic fibrosing alveolitis, appears to be comparatively rare. Furthermore, any biopsy showing a combination of histological patterns, a pattern of non-specific interstitial pneumonia or a pattern of lymphoid interstitial pneumonia/follicular bronchiolitis should be thoroughly investigated for a background connective tissue disorder, if previously unsuspected. Finally, the recently published

  19. Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions

    Science.gov (United States)

    Zampini, Laura; D'Odorico, Laura; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni

    2012-01-01

    The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

  20. Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis.

    Science.gov (United States)

    Fromenty, B; Grimbert, S; Mansouri, A; Beaugrand, M; Erlinger, S; Rötig, A; Pessayre, D

    1995-01-01

    Alcohol abuse may lead to microvesicular steatosis, a lesion ascribed to impaired mitochondrial function. Because alcohol abuse leads to reactive oxygen species in the hepatic mitochondria, it may damage mitochondrial DNA. The aim of this study was to look for the presence of the "common" 4977-base pair deletion in the hepatic mitochondrial DNA of alcoholic patients and age-matched, nonalcoholic controls. Hepatic DNA was subjected to two polymerase chain reactions that amplified non-deleted and deleted mitochondrial DNA, respectively. The deletion was found in 6 of 10 alcoholics with microvesicular steatosis, 2 of 17 alcoholic patients with macrovacuolar steatosis, but in none of 12 patients with acute alcoholic hepatitis, 11 patients with alcoholic cirrhosis, or 62 nonalcoholic patients of comparable ages with various other liver diseases or normal liver histology. In all patients with the deletion, restriction fragments of deleted mitochondrial DNA co-migrated with those of reference Pearson bone marrow-pancreas syndrome patients with the common mitochondrial DNA deletion. The common deletion is frequent in the hepatic DNA of alcoholic patients with microvesicular steatosis. Alcohol-induced mitochondrial DNA damage may contribute to the occurrence of this lesion in some alcoholics.

  1. Lack of association of insertion/deletion polymorphism in ...

    African Journals Online (AJOL)

    In the present preliminary study the insertion/deletion polymorphism within angiotensin converting enzyme gene is not likely to be associated with nephropathy in type 2 diabetic patients of Punjabi population of Pakistan. Key words: Angiotensin converting enzymes, insertion/deletion polymorphism, albuminuria and type 2 ...

  2. Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

    Science.gov (United States)

    Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

    2017-01-01

    Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

  3. Mitochondrial DNA deletions in patients with chronic suppurative otitis media.

    Science.gov (United States)

    Tatar, Arzu; Tasdemir, Sener; Sahin, Ibrahim; Bozoglu, Ceyda; Erdem, Haktan Bagis; Yoruk, Ozgur; Tatar, Abdulgani

    2016-09-01

    The aim of this study was to investigate the 4977 and 7400 bp deletions of mitochondrial DNA in patients with chronic suppurative otitis media and to indicate the possible association of mitochondrial DNA deletions with chronic suppurative otitis media. Thirty-six patients with chronic suppurative otitis media were randomly selected to assess the mitochondrial DNA deletions. Tympanomastoidectomy was applied for the treatment of chronic suppurative otitis media, and the curettage materials including middle ear tissues were collected. The 4977 and 7400 bp deletion regions and two control regions of mitochondrial DNA were assessed by using the four pair primers. DNA was extracted from middle ear tissues and peripheral blood samples of the patients, and then polymerase chain reactions (PCRs) were performed. PCR products were separated in 2 % agarose gel. Seventeen of 36 patients had the heterozygote 4977 bp deletion in the middle ear tissue but not in peripheral blood. There wasn't any patient who had the 7400 bp deletion in mtDNA of their middle ear tissue or peripheral blood tissue. The patients with the 4977 bp deletion had a longer duration of chronic suppurative otitis media and a higher level of hearing loss than the others (p otitis media and the reactive oxygen species can cause the mitochondrial DNA deletions and this may be a predisposing factor to sensorineural hearing loss in chronic suppurative otitis media. An antioxidant drug as a scavenger agent may be used in long-term chronic suppurative otitis media.

  4. Phosphatase and tensin homologue deleted on chromosome 10 ...

    African Journals Online (AJOL)

    Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor suppressor gene deleted or mutated in many human cancers such as glioblastoma, spinal tumors, prostate, bladder, adrenals, thyroid, breast, endometrium, and colon cancers. They result from loss of heterozygosity (LOH) for the PTEN ...

  5. Generalised deletion designs | Gachii | African Journal of Science ...

    African Journals Online (AJOL)

    In this paper asymmetrical single replicate factorial designs are constructed from symmetrical single replicate factorial designs using the deletion technique. The study is along the lines of Voss(1986), Chauhan(1989) and Gachii and Odhiambo(1997). We give results for the general order deletion designs of the form sn-m1(s ...

  6. 24 CFR 990.155 - Addition and deletion of units.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development Regulations Relating to Housing and Urban...; Computation of Eligible Unit Months § 990.155 Addition and deletion of units. (a) Changes in public housing...

  7. 4977-bp mitochondrial DNA deletion in infertile patients with varicocele.

    Science.gov (United States)

    Gashti, N G; Salehi, Z; Madani, A H; Dalivandan, S T

    2014-04-01

    Varicocele is the abnormal inflexion and distension of veins of the pampiniform plexus within spermatic cord and is one of the amendable causes of male infertility. It can increase reactive oxygen species (ROS) production in semen and cause oxidative stress. The purpose of this study was to analyse spermatozoa mtDNA 4977-bp deletion in infertile men with varicocele. To detect 4977-bp deletion in spermatozoa mtDNA, semen samples of 60 infertile patients with clinical varicocele and 90 normal men from northern Iran were prepared. After extraction of spermatozoa total DNA, Gap polymerase chain reaction (Gap PCR) was performed. 4977-bp deletion was observed in 81.66% of patients with varicocele, while approximately 15.55% of controls had this deletion. As spermatozoa from patients with varicocele had a high frequency of occurrence of 4977-bp deletion in mtDNA [OR = 24.18, 95% confidence interval (CI) = 10.15-57.57, P deletion in spermatozoa and cause infertility in north Iranian men. However, to determine the relation between sperm mtDNA 4977-bp deletion and varicocele-induced infertility, larger population-based studies are needed. It is concluded that there is an association between sperm mtDNA 4977-bp deletion and varicocele-induced infertility in the population studied. © 2013 Blackwell Verlag GmbH.

  8. 34 CFR 5.16 - Deletion of identifying details.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 1 2010-07-01 2010-07-01 false Deletion of identifying details. 5.16 Section 5.16 Education Office of the Secretary, Department of Education AVAILABILITY OF INFORMATION TO THE PUBLIC PURSUANT TO PUB. L. 90-23 (Eff. until 7-14-10) What Records Are Available § 5.16 Deletion of identifying...

  9. 76 FR 27999 - Procurement List; Addition and Deletion

    Science.gov (United States)

    2011-05-13

    ... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Addition to and Deletion from the Procurement List. SUMMARY: This action adds a service to the Procurement... USA ROCK ISL Arsenal, Rock Island, IL. [[Page 28000

  10. 42 CFR 401.118 - Deletion of identifying details.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Deletion of identifying details. 401.118 Section 401.118 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... Deletion of identifying details. When CMS publishes or otherwise makes available an opinion or order...

  11. Solid-phase nested deletion: a new subcloning-less method for generating nested deletions.

    Science.gov (United States)

    Yohda, M; Kato, N; Endo, I

    1995-08-31

    We have developed a new subcloning-less method for generating nested deletions which we have termed Solid-Phase Nested Deletion. The basic procedure for this method is as follows. The target DNA fragment is cloned in the multiple cloning site of a cloning vector, pUC or its derivatives, and amplified by PCR using a set of primers, one of which is 5'-biotinylated. The amplified DNA is partially digested by a restriction enzyme with a 4-base recognition sequence. The digested DNA is ligated with a synthetic adapter DNA. Monodiverse beads coupled with streptavidin (Dynabeads M-280 streptavidin) are added to the mixture and the biotinylated DNA fragments are separated by applying magnetic field. The unidirectionally deleted DNA fragments are recovered by PCR from the magnetic beads, and size-fractionated by agarose gel electrophoresis. The DNA fragments are amplified by PCR and used for sequencing. We demonstrate the potential of this method using a 4878-bp EcoRI fragment of lambda phage DNA.

  12. Kcne4 Deletion Sex-Dependently Alters Vascular Reactivity

    DEFF Research Database (Denmark)

    Abbott, Geoffrey W; Jepps, Thomas A

    2016-01-01

    ) subunits. We investigated the effects of targeted germline Kcne4 deletion on mesenteric artery reactivity in adult male and female mice. Kcne4 deletion increased mesenteric artery contractility in response to α-adrenoceptor agonist methoxamine, and decreased responses to Kv7.2-7.5 channel activator ML213......, in male but not female mice. In contrast, Kcne4 deletion markedly decreased vasorelaxation in response to isoprenaline in both male and female mice. Kcne4 expression was 2-fold lower in the female versus the male mouse mesenteric artery, and Kcne4 deletion elicited only moderate changes of other Kcne...... transcripts, with no striking sex-specific differences. However, Kv7.4 protein expression in females was twice that in males, and was reduced in both sexes by Kcne4 deletion. Our findings confirm a crucial role for KCNE4 in regulation of Kv7 channel activity to modulate vascular tone, and provide the first...

  13. Attenuation of monkeypox virus by deletion of genomic regions

    Science.gov (United States)

    Lopera, Juan G.; Falendysz, Elizabeth A.; Rocke, Tonie E.; Osorio, Jorge E.

    2015-01-01

    Monkeypox virus (MPXV) is an emerging pathogen from Africa that causes disease similar to smallpox. Two clades with different geographic distributions and virulence have been described. Here, we utilized bioinformatic tools to identify genomic regions in MPXV containing multiple virulence genes and explored their roles in pathogenicity; two selected regions were then deleted singularly or in combination. In vitro and in vivostudies indicated that these regions play a significant role in MPXV replication, tissue spread, and mortality in mice. Interestingly, while deletion of either region led to decreased virulence in mice, one region had no effect on in vitro replication. Deletion of both regions simultaneously also reduced cell culture replication and significantly increased the attenuation in vivo over either single deletion. Attenuated MPXV with genomic deletions present a safe and efficacious tool in the study of MPX pathogenesis and in the identification of genetic factors associated with virulence.

  14. Role of DNA deletion length in mutation and cell survival

    International Nuclear Information System (INIS)

    Braby, L.A.; Morgan, T.L.

    1992-01-01

    A model is presented which is based on the assumption that malignant transformation, mutation, chromosome aberration, and reproductive death of cells are all manifestations of radiation induced deletions in the DNA of the cell, and that the size of the deletion in relation to the spacing of essential genes determines the consequences of that deletion. It is assumed that two independent types of potentially lethal lesions can result in DNA deletions, and that the relative numbers of these types of damage is dependent on radiation quality. The repair of the damage reduces the length of a deletion, but does not always eliminate it. The predictions of this model are in good agreement with a wide variety of experimental evidence. (author)

  15. Neutron diffraction observations of interstitial protons in dense ice.

    Science.gov (United States)

    Guthrie, Malcolm; Boehler, Reinhard; Tulk, Christopher A; Molaison, Jamie J; dos Santos, António M; Li, Kuo; Hemley, Russell J

    2013-06-25

    The motif of distinct H2O molecules in H-bonded networks is believed to persist up to the densest molecular phase of ice. At even higher pressures, where the molecule dissociates, it is generally assumed that the proton remains localized within these same networks. We report neutron-diffraction measurements on D2O that reveal the location of the D atoms directly up to 52 GPa, a pressure regime not previously accessible to this technique. The data show the onset of a structural change at ∼13 GPa and cannot be described by the conventional network structure of ice VII above ∼26 GPa. Our measurements are consistent with substantial deuteron density in the octahedral, interstitial voids of the oxygen lattice. The observation of this "interstitial" ice VII form provides a framework for understanding the evolution of hydrogen bonding in ice that contrasts with the conventional picture. It may also be a precursor for the superionic phase reported at even higher pressure with important consequences for our understanding of dense matter and planetary interiors.

  16. Interstitial diffusion in systems with multiple sorts of traps

    Science.gov (United States)

    Fischer, F. D.; Svoboda, J.; Kozeschnik, E.

    2013-03-01

    The role of several sorts of traps for one diffusing interstitial component is investigated. The site fraction of this component in each trap is calculated due to the local thermodynamic equilibrium condition with its site fraction in the lattice. Combining Fick's first law for diffusive fluxes of individual site fractions with the equilibrium condition and the mass balance allows deriving an extended nonlinear diffusion equation. If the molar volumes of the trap positions are constant with respect to time, then a generalized chemical diffusion coefficient can be derived, which allows performing the diffusion study in terms of the total concentration of the interstitial component. As an alternative way, the total diffusion flux can also be treated as the sum of diffusion fluxes of individual fractions combined with local redistribution of individual fractions based on the thermodynamic local equilibrium condition. Both concepts are presented in simulations for the diffusion of hydrogen in the system with traps as immobile dislocations, substitutional impurities and interfaces of incoherent carbide nanoprecipitates. Both concepts provide equivalent results and exhibit an asymmetric behaviour with respect to a charging/discharging process.

  17. The role of Borrelia burgdorferi in interstitial cystitis.

    Science.gov (United States)

    Haarala, M; Kiiholma, P; Nurmi, M; Uksila, J; Alanen, A

    2000-04-01

    Borrelia burgdorferi spirochete has been found both in bladder biopsies and the urine of patients with Lyme disease (LD) as well as in experimental animals. The urological symptoms in borreliosis resemble those of interstitial cystitis (IC): frequency, urgency and nocturia. The aim of this studies is to find the role of B. burgdorferi in interstitial cystitis. We studied antibodies against B. burgdorferi from serum samples of 50 IC patients with two separate EIA tests. Patients with positive serology in both tests underwent cystoscopy and a bladder biopsy was taken. The presence of borrelia DNA was studied with borrelia-specific polymerase chain reaction (PCR), and with universal bacterial PCR. IgM class antibodies to B. burgdorferi were not found, but IgG antibodies were found in four samples (8%). This was higher than in the control material (2%). One patient's sample was strongly positive, whereas three samples were weakly positive. Bladder biopsies taken from the 4 patients were negative for borrelia DNA in both PCR tests. None of the seropositive patients had any symptoms consistent with LD. These results indicate that persistent infection of B. burgdorferi has no role in the etiology of IC. On the other hand a connection with a past borrelia infection and IC is not excluded.

  18. The Role of Interstitial Fluid Pressurization in Articular Cartilage Lubrication

    Science.gov (United States)

    Ateshian, Gerard A.

    2009-01-01

    Over the last two decades, considerable progress has been reported in the field of cartilage mechanics that impacts our understanding of the role of interstitial fluid pressurization on cartilage lubrication. Theoretical and experimental studies have demonstrated that the interstitial fluid of cartilage pressurizes considerably under loading, potentially supporting most of the applied load under various transient or steady-state conditions. The fraction of the total load supported by fluid pressurization has been called the fluid load support. Experimental studies have demonstrated that the friction coefficient of cartilage correlates negatively with this variable, achieving remarkably low values when the fluid load support is greatest. A theoretical framework that embodies this relationship has been validated against experiments, predicting and explaining various outcomes, and demonstrating that a low friction coefficient can be maintained for prolonged loading durations under normal physiological function. This paper reviews salient aspects of this topic, as well as its implications for improving our understanding of boundary lubrication by molecular species in synovial fluid and the cartilage superficial zone. Effects of cartilage degeneration on its frictional response are also reviewed. PMID:19464689

  19. Development of an interstitial cystitis risk score for bladder permeability

    Science.gov (United States)

    Lamb, Laura E.; Janicki, Joseph J.; Bartolone, Sarah N.; Peters, Kenneth M.

    2017-01-01

    Background Interstitial cystitis/bladder pain syndrome (IC) is a multifactorial syndrome of severe pelvic and genitalia pain and compromised urinary function; a subset of IC patients present with Hunner’s lesions or ulcers on their bladder walls (UIC). UIC is diagnosed by cystoscopy, which may be quite painful. The objective of this study was to determine if a calculated Bladder Permeability Defect Risk Score (BP-RS) based on non-invasive urinary cytokines could discriminate UIC patients from controls and IC patients without Hunner’s ulcers. Methods A national crowdsourcing effort targeted IC patients and age-matched controls to provide urine samples. Urinary cytokine levels for GRO, IL-6, and IL-8 were determined using a Luminex assay. Results We collected 448 urine samples from 46 states consisting of 153 IC patients (147 female, 6 male), of which 54 UIC patients (50 females, 4 male), 159 female controls, and 136 male controls. A defined BP-RS was calculated to classify UIC, or a bladder permeability defect etiology, with 89% validity. Conclusions The BP-RS Score quantifies UIC risk, indicative of a bladder permeability defect etiology in a subset of IC patients. The Bladder Permeability Defect Risk Score is the first validated urine biomarker assay for interstitial cystitis/bladder pain syndrome. PMID:29088231

  20. Development of an interstitial cystitis risk score for bladder permeability.

    Science.gov (United States)

    Lamb, Laura E; Janicki, Joseph J; Bartolone, Sarah N; Peters, Kenneth M; Chancellor, Michael B

    2017-01-01

    Interstitial cystitis/bladder pain syndrome (IC) is a multifactorial syndrome of severe pelvic and genitalia pain and compromised urinary function; a subset of IC patients present with Hunner's lesions or ulcers on their bladder walls (UIC). UIC is diagnosed by cystoscopy, which may be quite painful. The objective of this study was to determine if a calculated Bladder Permeability Defect Risk Score (BP-RS) based on non-invasive urinary cytokines could discriminate UIC patients from controls and IC patients without Hunner's ulcers. A national crowdsourcing effort targeted IC patients and age-matched controls to provide urine samples. Urinary cytokine levels for GRO, IL-6, and IL-8 were determined using a Luminex assay. We collected 448 urine samples from 46 states consisting of 153 IC patients (147 female, 6 male), of which 54 UIC patients (50 females, 4 male), 159 female controls, and 136 male controls. A defined BP-RS was calculated to classify UIC, or a bladder permeability defect etiology, with 89% validity. The BP-RS Score quantifies UIC risk, indicative of a bladder permeability defect etiology in a subset of IC patients. The Bladder Permeability Defect Risk Score is the first validated urine biomarker assay for interstitial cystitis/bladder pain syndrome.

  1. Hydrogen solution in tetrahedral or octahedral interstitial sites in Al

    International Nuclear Information System (INIS)

    Zeng, C.A.; Hu, J.P.; Ouyang, C.Y.

    2011-01-01

    Highlights: → The physical nature of the site preference for H solution in BCC Al is revealed. → The site preference is result of competition between Al-H bonding interaction and local lattice distortion. → The Al-H bonding interaction lowers the solution energy while the local lattice distortion increases the solution energy. - Abstract: It is reported that H atoms prefer to stay at interstitial (defect) sites with larger space in most metals. However, H atom prefers to occupy tetrahedral interstitial sites (T-site) that provide smaller space than octahedral sites (O-site) in Al. This paper studied the H-Al interactions from first principles calculations. Through analysis of the H-induced electronic states and the local atomic relaxations, we show that H-Al bonding interaction is stronger for T-site H, which is in favor of the solution energy. On the other hand, larger local atomic distortion is observed around the T-site H, which increases the total energy.

  2. Interstitial fluid contains higher in vitro IGF bioactivity than serum

    DEFF Research Database (Denmark)

    Espelund, Ulrick; Søndergaard, Klaus; Bjerring, Peter

    2012-01-01

    CONTEXT: Circulating insulin-like growth factors (IGFs) are bound in complexes which affect their tissue-accessibility. Interstitial fluid is in close proximity to target cells, but the IGF-system is not well-described herein. OBJECTIVE: To perform a thorough comparison of the IGF-system in sucti...... relate to an increased enzymatic IGFBP-degradation and an altered IGFBP-composition in SBF, making more IGF-I and -II accessible to the IGF-IR. The impact of food intake on the IGF system differs between serum and interstitial fluid....... blister fluid (SBF) vs. in serum, with emphasis on bioactive IGF levels. DESIGN: Eight hour study including samples collected in the fasting state (20h) and after a meal. SETTING: Clinical research facility. PARTICIPANTS: Six healthy males (age 37.0±8.8years, BMI 22.5±1.4kg/m(2)) (mean±SD). MAIN OUTCOME...... was observed, including 3-fold elevated amounts of IGFBP-3 fragments in SBF (Pfood intake differed between serum and SBF (all P≤0.03). CONCLUSION: Despite lower concentrations, the in vitro IGF bioactivity was higher in SBF than in serum. This may...

  3. Legionnaire's pneumonia: Is there really an interstitial disease?

    International Nuclear Information System (INIS)

    Godet, C.; Frat, J.P.; Le Moal, G.; Roblot, F.; Michalakis, G.; Cabon, E.; Tasu, J.P.

    2007-01-01

    Objective: Legionella pneumonia is usually classified as 'atypical pneumonia', which suggests a predominance of interstitial patterns in chest X-rays. Based on a selection of recent clinical cases and a brief review of the literature, the aim of the study is to clarify, how far the actual radiological findings would be consistent with these expectations. Patients and methods: A retrospective analysis of 18 epidemic personal cases and a review of the literature data were performed to describe the chest X-ray findings of Legionella pneumophila (LP) community acquired pneumonia. X-ray review was performed simultaneously and in consensus by two radiologists (J.P.T., E.C.) and a physician (C.G.). Results: From our series, 17 patients had an abnormal chest X-ray on admission. Among these pathological X-ray cases, infiltrates were more often confluent (n = 16), or patchy (n = 7), rather than interstitial (n = 1). Fifteen patients had infiltrates involving the lower lung fields. Bilateral distribution of abnormalities and pleural effusion were each observed in three cases. Radiological findings deteriorated between the second and seventh days following admission, particularly in the form of patchy infiltrates with pleural effusion. The review of the literature is consistent with these findings, by reporting prevalent confluent or patchy infiltrates. Conclusions: These findings are consistent with the physiopathological particularity of this affection and incite us to avoid the classification 'atypical pneumonia' in radiologic terminology. This term is more appropriate for clinical and microbiological use

  4. Peritumoral interstitial fluid flow velocity predicts survival in cervical carcinoma

    International Nuclear Information System (INIS)

    Hompland, Tord; Lund, Kjersti V.; Ellingsen, Christine; Kristensen, Gunnar B.; Rofstad, Einar K.

    2014-01-01

    Background and purpose: High tumor interstitial fluid pressure (IFP) is associated with poor outcome in locally advanced carcinoma of the uterine cervix. We have recently developed a noninvasive assay of the IFP of tumors, and in this assay, the outward interstitial fluid flow velocity at the tumor surface (v 0 ) is measured by Gd-DTPA-based DCE-MRI and used as a parameter for IFP. Here, we investigated the independent prognostic significance of v 0 in cervical cancer patients given cisplatin-based concurrent chemoradiotherapy with curative intent. Patients: The study involved 62 evaluable patients from a cohort of 74 consecutive patients (Stage IB through IIIB) with a median follow-up of 5.5 years. Results: The actuarial disease-free survival (DFS) and overall survival (OS) at 5 years were 67% and 76%, respectively. Significant associations were found between v 0 dichotomized about the median value and DFS and OS, both in the total patient cohort and a subcohort of 40 Stage IIB patients. Multivariate analysis involving stage, tumor volume, lymph node status, and v 0 revealed that only v 0 provided independent prognostic information about DFS and OS. Conclusion: This investigation demonstrates a strong, independent prognostic impact of the pretreatment peritumoral fluid flow velocity in cervical cancer

  5. Microbiome in interstitial lung disease: from pathogenesis to treatment target.

    Science.gov (United States)

    Salisbury, Margaret L; Han, MeiLan K; Dickson, Robert P; Molyneaux, Philip L

    2017-09-01

    This review summarizes current knowledge of the role of the lung microbiome in interstitial lung disease and poses considerations of the microbiome as a therapeutic target. Although historically considered sterile, bacterial communities have now been well documented in lungs in health and disease. Studies in idiopathic pulmonary fibrosis (IPF) suggest that increased bacterial burden and/or abundance of potentially pathogenic bacteria may drive disease progression, acute exacerbations, and mortality. More recent work has highlighted the interaction between the lung microbiome and the innate immune system in IPF, strengthening the argument for the role of both host and environment interaction in disease pathogenesis. In support of this, studies of interstitial lung diseases other than IPF suggest that it may be the host immune response, which shapes the microbiome in these diseases. Some clinical and mouse model data also suggest that the lung microbiome may represent a therapeutic target, via antibiotic administration, immunization against pathogenic organisms, or treatment directed at gastroesophageal reflux. Evidence suggests that the lung microbiome may serve as a prognostic biomarker, a therapeutic target, or provide an explanation for disease pathogenesis in IPF.

  6. Development of an interstitial cystitis risk score for bladder permeability.

    Directory of Open Access Journals (Sweden)

    Laura E Lamb

    Full Text Available Interstitial cystitis/bladder pain syndrome (IC is a multifactorial syndrome of severe pelvic and genitalia pain and compromised urinary function; a subset of IC patients present with Hunner's lesions or ulcers on their bladder walls (UIC. UIC is diagnosed by cystoscopy, which may be quite painful. The objective of this study was to determine if a calculated Bladder Permeability Defect Risk Score (BP-RS based on non-invasive urinary cytokines could discriminate UIC patients from controls and IC patients without Hunner's ulcers.A national crowdsourcing effort targeted IC patients and age-matched controls to provide urine samples. Urinary cytokine levels for GRO, IL-6, and IL-8 were determined using a Luminex assay.We collected 448 urine samples from 46 states consisting of 153 IC patients (147 female, 6 male, of which 54 UIC patients (50 females, 4 male, 159 female controls, and 136 male controls. A defined BP-RS was calculated to classify UIC, or a bladder permeability defect etiology, with 89% validity.The BP-RS Score quantifies UIC risk, indicative of a bladder permeability defect etiology in a subset of IC patients. The Bladder Permeability Defect Risk Score is the first validated urine biomarker assay for interstitial cystitis/bladder pain syndrome.

  7. Bone tissue engineering: the role of interstitial fluid flow

    Science.gov (United States)

    Hillsley, M. V.; Frangos, J. A.

    1994-01-01

    It is well established that vascularization is required for effective bone healing. This implies that blood flow and interstitial fluid (ISF) flow are required for healing and maintenance of bone. The fact that changes in bone blood flow and ISF flow are associated with changes in bone remodeling and formation support this theory. ISF flow in bone results from transcortical pressure gradients produced by vascular and hydrostatic pressure, and mechanical loading. Conditions observed to alter flow rates include increases in venous pressure in hypertension, fluid shifts occurring in bedrest and microgravity, increases in vascularization during the injury-healing response, and mechanical compression and bending of bone during exercise. These conditions also induce changes in bone remodeling. Previously, we hypothesized that interstitial fluid flow in bone, and in particular fluid shear stress, serves to mediate signal transduction in mechanical loading- and injury-induced remodeling. In addition, we proposed that a lack or decrease of ISF flow results in the bone loss observed in disuse and microgravity. The purpose of this article is to review ISF flow in bone and its role in osteogenesis.

  8. [Chronic interstitial lung disease in children: Diagnostic approach and management].

    Science.gov (United States)

    Fuger, M; Clair, M-P; El Ayoun Ibrahim, N; L'Excellent, S; Nizery, L; O'Neill, C; Tabone, L; Truffinet, O; Yakovleff, C; de Blic, J

    2016-05-01

    Chronic interstitial lung disease (ILD) in children is a heterogeneous group of rare lung disorders characterized by an inflammatory process of the alveolar wall and the pulmonary interstitium that induces gas exchange disorders. The diagnostic approach to an ILD involves three essential steps: recognizing the ILD, appreciating the impact, and identifying the cause. The spectrum of clinical findings depends to a large extent on age. In the newborn, the beginning is often abrupt (neonatal respiratory distress), whereas there is a more gradual onset in infants (failure to thrive, tachypnea, indrawing of the respiratory muscles). In older children, the onset is insidious and the diagnosis can only be made at an advanced stage of the disease. The diagnosis is based on noninvasive methods (clinical history, respiratory function tests, chest X-ray, and high-resolution CT scan) and invasive techniques (bronchoalveolar lavage, transbronchial biopsy, video-assisted thoracoscopic biopsy, and open lung biopsy). The treatment of interstitial lung disease in children depends on the nature of the underlying pathology. The most common therapeutic approach involves the use of corticosteroids and immunosuppressive agents for their anti-inflammatory and antifibrotic effects. Children with ILD also need support therapy (oxygen therapy, nutritional support, treatment of pulmonary arterial hypertension, vaccination). Lung transplantation is discussed in patients with severe respiratory failure. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  9. LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.

    Directory of Open Access Journals (Sweden)

    Ayumi Matsumoto

    Full Text Available Interstitial deletion of 12q21 has been reported in four cases, which share several common clinical features, including intellectual disability (ID, low-set ears, and minor cardiac abnormalities. Comparative genomic hybridization (CGH analysis using the Agilent Human Genome CGH 180K array was performed with the genomic DNA from a two-year-old Japanese boy with these symptoms, as well as hypoplasia of the corpus callosum. Consequently, a 14 Mb deletion at 12q21.2-q21.33 (nt. 77 203 574-91 264 613 bp, which includes 72 genes, was detected. Of these, we focused on LIN7A, which encodes a scaffold protein that is important for synaptic function, as a possible responsible gene for ID, and we analyzed its role in cerebral cortex development. Western blotting analyses revealed that Lin-7A is expressed on embryonic day (E 13.5, and gradually increases in the mouse brain during the embryonic stage. Biochemical fractionation resulted in the enrichment of Lin-7A in the presynaptic fraction. Suppression of Lin-7A expression by RNAi, using in utero electroporation on E14.5, delayed neuronal migration on postnatal day (P 2, and Lin-7A-deficient neurons remained in the lower zone of the cortical plate and the intermediate zone. In addition, when Lin-7A was silenced in cortical neurons in one hemisphere, axonal growth in the contralateral hemisphere was delayed; development of these neurons was disrupted such that one half did not extend into the contralateral hemisphere after leaving the corpus callosum. Taken together, LIN7A is a candidate gene responsible for 12q21-deletion syndrome, and abnormal neuronal migration and interhemispheric axon development may contribute to ID and corpus callosum hypoplasia, respectively.

  10. Ku80-deleted cells are defective at base excision repair

    International Nuclear Information System (INIS)

    Li, Han; Marple, Teresa; Hasty, Paul

    2013-01-01

    Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H 2 O 2 and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs

  11. Frequency of KLK3 gene deletions in the general population.

    Science.gov (United States)

    Rodriguez, Santiago; Al-Ghamdi, Osama A; Guthrie, Philip Ai; Shihab, Hashem A; McArdle, Wendy; Gaunt, Tom; Alharbi, Khalid K; Day, Ian Nm

    2017-07-01

    Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and non-genetic, determine variation of serum prostate-specific antigen concentrations in the population. We have recently found three KLK3 deletions in individuals with very low prostate-specific antigen concentrations, suggesting a link between abnormally reduced KLK3 expression and deletions of KLK3. Here, we aim to determine the frequency of kallikrein gene 3 deletions in the general population. Methods The frequency of KLK3 deletions in the general population was estimated from the 1958 Birth Cohort sample ( n = 3815) using amplification ratiometry control system. In silico analyses using PennCNV were carried out in the same cohort and in NBS-WTCCC2 in order to provide an independent estimation of the frequency of KLK3 deletions in the general population. Results Amplification ratiometry control system results from the 1958 cohort indicated a frequency of KLK3 deletions of 0.81% (3.98% following a less stringent calling criterion). From in silico analyses, we found that potential deletions harbouring the KLK3 gene occurred at rates of 2.13% (1958 Cohort, n = 2867) and 0.99% (NBS-WTCCC2, n = 2737), respectively. These results are in good agreement with our in vitro experiments. All deletions found were in heterozygosis. Conclusions We conclude that a number of individuals from the general population present KLK3 deletions in heterozygosis. Further studies are required in order to know if interpretation of low serum prostate-specific antigen concentrations in individuals with KLK3 deletions may offer false-negative assurances with consequences for prostate cancer screening, diagnosis and monitoring.

  12. Ku80-deleted cells are defective at base excision repair

    Energy Technology Data Exchange (ETDEWEB)

    Li, Han [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain); Marple, Teresa [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Hasty, Paul, E-mail: hastye@uthscsa.edu [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain)

    2013-05-15

    Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H{sub 2}O{sub 2} and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs.

  13. Stability and mobility of self-interstitials and small interstitial clusters in α-iron: ab initio and empirical potential calculations

    International Nuclear Information System (INIS)

    Willaime, F.; Fu, C.C.; Marinica, M.C.; Dalla Torre, J.

    2005-01-01

    The stability and mobility of self-interstitials and small interstitial clusters, I n , in α-Fe is investigated by means of calculations performed in the framework of the density functional theory using the SIESTA code. The mono-, di- and tri-interstitials are shown to be made of (parallel) dumbbells and to migrate by nearest-neighbor translation-rotation jumps, according to Johnson's mechanism. The orientation of the dumbbells becomes energetically more favourable for I 5 and larger clusters. The performance of a semi-empirical potential recently developed for Fe, including ab initio self-interstitial data in the fitted properties, is evaluated over the present results. The superiority over previous semi-empirical potentials is confirmed. Finally the impact of the present results on the formation mechanism of loops, observed experimentally in α-Fe is discussed

  14. Pulmonary interstitial emphysema: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Mauricio Kauark Amoedo

    2013-09-01

    Full Text Available Pulmonary interstitial emphysema is a rare condition that generally affects low-weight preterm infants submitted to mechanical ventilation. The prognosis is variable, depending on early diagnosis and treatment. The radiologist plays a key role in this scenario. The authors report a case of persistent pulmonary interstitial emphysema, describing the main characteristics of such entity.

  15. Investigations on the local structure and g factors for the interstitial ...

    Indian Academy of Sciences (India)

    Abstract. The EPR g factors gi (i = x, y, z) for the interstitial Ti3+ in rutile are theoretically studied from the perturbation formulas of these parameters for a 3d1 ion in rhombically compressed octahedra. The ligand octahedron in the impurity center is found to be less compressed than that on the host interstitial site due to the ...

  16. Increased urinary levels of Tamm-Horsfall glycoprotein suggest a systemic etiology of interstitial cystitis

    NARCIS (Netherlands)

    Bade, J J; Marrink, J; Karrenbeld, A; van der Weele, L; Mensink, H J

    Purpose: We investigated the role of Tamm-Horsfall protein in interstitial cystitis. Materials and Methods: Urinary Tamm-Horsfall protein excretion was analyzed in interstitial cystitis patients and controls, and bladder biopsy specimens were stained immunohistochemically for Tamm-Horsfall protein.

  17. Non-bladder conditions in female Taiwanese patients with interstitial cystitis/hypersensitive bladder syndrome.

    Science.gov (United States)

    Fan, Yu-Hua; Lin, Alex T L; Lu, Shing-Hwa; Chuang, Yao-Chi; Chen, Kuang-Kuo

    2014-08-01

    To detect non-bladder conditions in patients with interstitial cystitis/hypersensitive bladder syndrome. A total of 122 female interstitial cystitis/hypersensitive bladder syndrome patients and a control group of 122 age-matched female patients with stress urinary incontinence completed screening questionnaires for irritable bowel syndrome, temporomandibular disorder, multiple chemical sensitivities, tension and migraine headache, localized myofascial pain disorder, and fibromyalgia. Interstitial cystitis/hypersensitive bladder syndrome patients also completed questionnaires on interstitial cystitis/hypersensitive bladder syndrome symptom severity, including the O'Leary-Sant symptom index, and the visual analog scale for pain and urgency. Interstitial cystitis/hypersensitive bladder syndrome patients were more likely to meet diagnostic criteria for irritable bowel syndrome than controls (37.5% vs 11.5%), and tension/migraine headache (38.7% vs 15.7%; all P interstitial cystitis/hypersensitive bladder syndrome symptoms as measured by the visual analog scale of pain (P = 0.008) and O'Leary-Sant bother index (P = 0.035). Interstitial cystitis/hypersensitive bladder syndrome patients are more likely to have multiple non-bladder conditions. These conditions correlate with the severity of interstitial cystitis/hypersensitive bladder syndrome symptoms. © 2014 The Japanese Urological Association.

  18. Macrophage Chemotaxis in Anti-tubular Basement Membrane-Induced Interstitial Nephritis in Guinea Pigs

    NARCIS (Netherlands)

    Kennedy, Thomas L.; Merrow, Martha; Phillips, S. Michael; Norman, Michael; Neilson, Eric G.

    1985-01-01

    Interstitial renal lesions containing T cells and macrophages develop after 14 days in guinea pigs immunized to produce anti-tubular basement membrane-induced interstitial nephritis. We serially examined the renal venous and systemic arterial sera from such animals to determine if chemotactic

  19. Serum human chorionic gonadotropin clearance curves in patients with interstitial pregnancy treated with systemic methotrexate

    NARCIS (Netherlands)

    Hajenius, P. J.; Voigt, R. R.; Engelsbel, S.; Mol, B. W.; Hemrika, D. J.; van der Veen, F.

    1996-01-01

    OBJECTIVE: To evaluate short-term effectiveness of systemic methotrexate (MTX) in interstitial pregnancy. DESIGN: Case series. SETTING: Two Dutch teaching hospitals. PATIENT(S): Eight consecutive patients with an unruptured interstitial pregnancy. INTERVENTION(S): Four doses of 1.0 mg/kg IM MTX

  20. Pulmonary interstitial emphysema: a case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Amoedo, Mauricio Kauark, E-mail: mauricioamoedo@gmail.com [Interventional Radiology, Hospital A.C. Camargo, Sao Paulo, SP (Brazil); Souza, Luciana Volpon Soares; Souza, Antonio Soares [Instituto de Radiodiagnostico Rio Preto (Ultra-X), Sao Jose do Rio Preto, SP (Brazil); Souza Junior, Arthur Soares [Faculdade de Medicina de Sao Jose do Rio Preto (Famerp), SP (Brazil); Marchiori, Edson [Universidade Federal Fluminense (UFF), Niteroi, RJ (Brazil)

    2013-09-15

    Pulmonary interstitial emphysema is a rare condition that generally affects low-weight preterm infants submitted to mechanical ventilation. The prognosis is variable, depending on early diagnosis and treatment. The radiologist plays a key role in this scenario. The authors report a case of persistent pulmonary interstitial emphysema, describing the main characteristics of such entity. (author)