Sample records for xx large xxx

  1. An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

    PubMed Central

    Annerén, G; Andersson, M; Page, D C; Brown, L G; Berg, M; Läckgren, G; Gustavson, K H; de la Chapelle, A

    1987-01-01

    A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:2889356

  2. Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

    PubMed

    Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

    2014-01-01

    Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

  3. Autoimmune myelofibrosis accompanied by Sjögren's syndrome in a 47, XXX/46, XX mosaic woman.

    PubMed

    Takahashi, Tohru

    2014-01-01

    This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A bone marrow study showed hypercellular marrow with reticulin fibrosis. Lymphocytic infiltrates and aggregates composed of a mixture of T and B cells in the marrow were also observed. A chromosomal analysis of the marrow cells showed 47, XXX and an analysis of peripheral lymphocytes revealed 47, XXX/46, XX mosaic results. The patient's cytopenia resolved following treatment with oral prednisolone.

  4. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

    PubMed

    Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

    2009-11-01

    To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

  5. Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

    PubMed

    Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

    2009-01-01

    A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

  6. Antenatal Diagnosis of an XXX Female

    PubMed Central

    Krone, Lawrence R.; Prichard, Lorraine L.; Bradshaw, Christy L.; Jones, Oliver W.; Peterson, Raymond M.; Dixson, Barbara K.

    1975-01-01

    This report describes the first antenatal diagnosis of an XXX female. Over 150 postnatal cases of XXX females have been described. There is no specific phenotype associated with the sex chromosome abnormality and most such persons are fertile. The frequency of XXX females in mental institutions is 3.9 per 1,000 female subjects whereas the frequency in consecutive newborn infants is 1.1 per 1,000 newborns. Chi-square analysis shows this difference cannot be due to chance. On the other hand, data from consecutive newborn studies suggest that intellectual development in XXX newborns is within normal range. Available evidence favors normal development in XXX female infants although the risk for developmental disabilities may be higher for the XXX than for the XX infant. ImagesFigure 1. PMID:1154778

  7. Comparing sex steroid levels during the annual cycles of rainbow trout (Oncorhynchus mykiss) diploid female (XX) and triploid female (XXX) genotypic sex.

    PubMed

    Espinosa, E; Josa, A; Gil, L; Malo, C; Mitjana, O

    2013-02-01

    In this study, the annual cycle of the gonadal steroids testosterone (T), 11-ketotestosterone (11-KT), 17β-estradiol (E2) and 17α, 20β-dihydroxy-4-pregnen-3-one (DHP) was determined using radioimmunoassay and then compared for two populations of rainbow trout, XX diploid females (n = 40) and XXX triploid females (n = 15). In females, E2 and DHP levels were found to be significantly related to body weight (r = 0.22513; p < 0.0001 and r = 0.15831; p > 0.001, respectively). In this group, E2 concentrations peaked in November (25.05 ng/ml), while maximum DHP levels, only measurable from October to April, were attained in February (64.14 ng/ml). No significant differences in hormone ranges related to egg output ability were observed. Finally, sex steroid concentrations were low in the triploid female XXX fish compared to the female XX population. Nevertheless, maximum T (33.85 ng/ml) and 11-KT (32.35 ng/ml) levels were recorded in January, for XXX. The levels for these two hormones are relatively high and are also significantly associated (r = 0.8430; p < 0.0001). Diploid females showed significantly higher levels of E2 than triploids over the 12-month study period. The female triploid fish produced the lowest steroid hormone levels, such that these would be the most suitable for human consumption. © 2012 Blackwell Verlag GmbH.

  8. Fertility in 47,XXX and 45,X patients.

    PubMed Central

    Dewhurst, J

    1978-01-01

    Female patients with a sex chromosome abnormality may be fertile. In patients with a 47,XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47,XXX patient than the mosaic 46,XX/47,XXX one. Patients with a 45,X cell line rarly become pregnant, and when they do they appear to have a high risk of an abnormal child or repeated unsuccessfuly pregnancies; this risk is certainly exaggerated by the method of reporting; when the poor reproductive perforamcne is first identified leading to the recognition of the maternal cytogenetic fault, the reproductive failure rate is naturally high; when the maternal fault is first identified and the reproductive history then established far better results are evident. PMID:641947

  9. 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

    PubMed

    Nieto, Karem; Peña, Rocío; Palma, Icela; Dorantes, Luis M; Eraña, Luis; Alvarez, Rebeca; García-Cavazos, Ricardo; Kofman-Alfaro, Susana; Queipo, Gloria

    2004-10-15

    Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual. Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH in peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases.

  10. 39 CFR 3060.21 - Income report.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 000s] FY 20xx FY 20xx-1 Percent change fromSPLY Percent change fromSPLY Revenue: $x,xxx $x,xxx xxx xx.x (1) Mail and Services Revenues xxx xxx xx xx.x (2) Investment Income x,xx x,xxx xxx xx.x (3) Total Competitive Products Revenue Expenses: (4) Volume-Variable Costs x,xxx x,xxx xxx xx.x (5) Product Specific...

  11. 39 CFR 3060.21 - Income report.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 000s] FY 20xx FY 20xx-1 Percent change fromSPLY Percent change fromSPLY Revenue: $x,xxx $x,xxx xxx xx.x (1) Mail and Services Revenues xxx xxx xx xx.x (2) Investment Income x,xx x,xxx xxx xx.x (3) Total Competitive Products Revenue Expenses: (4) Volume-Variable Costs x,xxx x,xxx xxx xx.x (5) Product Specific...

  12. 39 CFR 3060.21 - Income report.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 000s] FY 20xx FY 20xx-1 Percent change fromSPLY Percent change fromSPLY Revenue: $x,xxx $x,xxx xxx xx.x (1) Mail and Services Revenues xxx xxx xx xx.x (2) Investment Income x,xx x,xxx xxx xx.x (3) Total Competitive Products Revenue Expenses: (4) Volume-Variable Costs x,xxx x,xxx xxx xx.x (5) Product Specific...

  13. 39 CFR 3060.21 - Income report.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 000s] FY 20xx FY 20xx-1 Percent change fromSPLY Percent change fromSPLY Revenue: $x,xxx $x,xxx xxx xx.x (1) Mail and Services Revenues xxx xxx xx xx.x (2) Investment Income x,xx x,xxx xxx xx.x (3) Total Competitive Products Revenue Expenses: (4) Volume-Variable Costs x,xxx x,xxx xxx xx.x (5) Product Specific...

  14. 39 CFR 3060.21 - Income report.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 000s] FY 20xx FY 20xx-1 Percent change fromSPLY Percent change fromSPLY Revenue: $x,xxx $x,xxx xxx xx.x (1) Mail and Services Revenues xxx xxx xx xx.x (2) Investment Income x,xx x,xxx xxx xx.x (3) Total Competitive Products Revenue Expenses: (4) Volume-Variable Costs x,xxx x,xxx xxx xx.x (5) Product Specific...

  15. 47,XXX male: A clinical and molecular study.

    PubMed

    Ogata, T; Matsuo, M; Muroya, K; Koyama, Y; Fukutani, K

    2001-02-01

    We report a 53-year-old Japanese male with a 47,XXX karyotype. His clinical features included hypoplastic scrotal testes (4 ml bilaterally), normally formed small penis (3.8 cm), relatively poor pubic hair development (Tanner stage 3), gynecomastia, age-appropriate male height (159.1 cm), and mental retardation (verbal IQ of 56). Serum testosterone was markedly reduced (0.6 nmol/L). A needle biopsy showed severe testicular degeneration. FISH analysis revealed complex mosaicism consisting of (1) 47,XXX cells with a single copy of SRY (n = 177), two copies of SRY (n = 3), and no SRY (n = 1); (2) 46,XX cells with a single copy of SRY (n = 9) and no SRY (n = 3); (3) 45,X cells with no SRY (n = 5); and (4) 48,XXXX cells with a single copy of SRY (n = 1) and two copies of SRY (n = 1). PCR analysis showed the presence of Yp portion with the breakpoint between DYS264 and AMELY. Microsatellite analysis demonstrated three alleles for DMD and AR. X-inactivation analysis for the methylation status of the AR gene showed random inactivation of the three X chromosomes. The results suggest that this 47,XXX male has resulted from abnormal X-Y interchange during paternal meiosis and X-X nondisjunction during maternal meiosis. Complex mosaicism may be due to the age-related increase in mitotic nondisjunction which is prone to occur in rapidly dividing lymphocytes and to the presence of two randomly inactivated X chromosomes which may behave asynchronously during mitosis, and clinical features of this male would primarily be explained by the genetic information on the SRY (+) der(X) chromosome and his advanced age. Copyright 2001 Wiley-Liss, Inc.

  16. 46 CFR Appendix A to Part 535 - Information Form and Instructions

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... units] (B)Utilization [percent] Carrier A [Name] Liner Service 1 [Name] XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Carrier B Liner Service 1 XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Etc. . . . (C) Narrative statement on significant changes in vessel...

  17. 46 CFR Appendix A to Part 535 - Information Form and Instructions

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... units] (B)Utilization [percent] Carrier A [Name] Liner Service 1 [Name] XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Carrier B Liner Service 1 XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Etc. . . . (C) Narrative statement on significant changes in vessel...

  18. 46 CFR Appendix A to Part 535 - Information Form and Instructions

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... units] (B)Utilization [percent] Carrier A [Name] Liner Service 1 [Name] XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Carrier B Liner Service 1 XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Etc. . . . (C) Narrative statement on significant changes in vessel...

  19. 46 CFR Appendix A to Part 535 - Information Form and Instructions

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... units] (B)Utilization [percent] Carrier A [Name] Liner Service 1 [Name] XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Carrier B Liner Service 1 XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Etc. . . . (C) Narrative statement on significant changes in vessel...

  20. 46 CFR Appendix A to Part 535 - Information Form and Instructions

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... units] (B)Utilization [percent] Carrier A [Name] Liner Service 1 [Name] XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Carrier B Liner Service 1 XX,XXX XX Liner Service 2 XX,XXX XX Liner Service 3 XX,XXX XX Etc. . . . Etc. . . . (C) Narrative statement on significant changes in vessel...

  1. New Intermetallic Ternary Phosphide Chalcogenide AP2-xXx (A = Zr, Hf; X = S, Se) Superconductors with PbFCl-Type Crystal Structure

    NASA Astrophysics Data System (ADS)

    Kitô, Hijiri; Yanagi, Yousuke; Ishida, Shigeyuki; Oka, Kunihiko; Gotoh, Yoshito; Fujihisa, Hiroshi; Yoshida, Yoshiyuki; Iyo, Akira; Eisaki, Hiroshi

    2014-07-01

    We have synthesized a series of intermetallic ternary phosphide chalcogenide superconductors, AP2-xXx (A = Zr, Hf; X = S, Se), using the high-pressure synthesis technique. These materials have a PbFCl-type crystal structure (space group P4/nmm) when x is greater than 0.3. The superconducting transition temperature Tc changes systematically with x, yielding dome-like phase diagrams. The maximum Tc is achieved at approximately x = 0.7, at which point the Tc is 6.3 K for ZrP2-xSex (x = 0.75), 5.5 K for HfP2-xSex (x = 0.7), 5.0 K for ZrP2-xSx (x = 0.675), and 4.6 K for Hfp2-xSx (x = 0.5). They are typical type-II superconductors and the upper and lower critical fields are estimated to be 2.92 T at 0 K and 0.021 T at 2 K for ZrP2-xSex (x = 0.75), respectively.

  2. High Level Design for Distributed Application Instrumentation.

    DTIC Science & Technology

    1992-09-01

    true branch ,TRUE DD-path5 FALSE false branch SEXI .__T DECISION-TO-DECISION PATH EXAMPLE FIGURE 2 4.0 AUTOMATED TESTING TOOLS Manually testing...I I x l- I lE-4 I XX I WI I x I IH I E- 1>4 I IZI X XX I Z ~It X X XX w 1 0 1 XXX x X Il- I E-4l XXW x x X I c)l I XX x x X I4 l l XXX I X x (𔃾 l...I I lC1l XXX x X III xXX X x x X I WI rXX X X x X I I II xXX X X x I i 111 I 1W 0~l XXX X X XX X I1 10.01 XXXX x X XX x I HI0 IW 01 XXXX x Xx XX X X I

  3. Establishment and Discontinuance Criteria for Runway Visual Range (RVR) at Category I Precision Landing System Runway

    DTIC Science & Technology

    1987-01-01

    ATITN - x.xx 10,000 73,000 General GAAP - x.xx Aviation: 8,900 Military: MILAP - + x.xx 1,900 Subtotal x.xx x RVR System Design Factor x x.xx Subtotal...first three years of operation, ACAP, ATAP, GAAP and MILAP are the numbers of annual instrument approaches by user class, ACITN and ATITN are the...1, falls beneath 0.40. 3. Scope: The above (Phase I) criteria are based primarily on volume of air traffic and frequency and incidence of IFR weather

  4. 33 CFR 183.25 - Display of markings.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor or U.S. Coast Guard Maximum Capacities XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor with remote steering XXX Horsepower, motor without remote steering (2) For inboard boats and inboard-outboard...

  5. 33 CFR 183.25 - Display of markings.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor or U.S. Coast Guard Maximum Capacities XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor with remote steering XXX Horsepower, motor without remote steering (2) For inboard boats and inboard-outboard...

  6. 33 CFR 183.25 - Display of markings.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor or U.S. Coast Guard Maximum Capacities XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor with remote steering XXX Horsepower, motor without remote steering (2) For inboard boats and inboard-outboard...

  7. 33 CFR 183.25 - Display of markings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor or U.S. Coast Guard Maximum Capacities XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor with remote steering XXX Horsepower, motor without remote steering (2) For inboard boats and inboard-outboard...

  8. 33 CFR 183.25 - Display of markings.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor or U.S. Coast Guard Maximum Capacities XX Persons or XXX Pounds XXX Pounds, persons, motor, gear XXX Horsepower, motor with remote steering XXX Horsepower, motor without remote steering (2) For inboard boats and inboard-outboard...

  9. X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren’s Syndrome

    PubMed Central

    Liu, Ke; Kurien, Biji T.; Zimmerman, Sarah L.; Kaufman, Kenneth M.; Taft, Diana H.; Kottyan, Leah C.; Lazaro, Sara; Weaver, Carrie A.; Ice, John A.; Adler, Adam J.; Chodosh, James; Radfar, Lida; Rasmussen, Astrid; Stone, Donald U.; Lewis, David M.; Li, Shibo; Koelsch, Kristi A.; Igoe, Ann; Talsania, Mitali; Kumar, Jay; Maier-Moore, Jacen S.; Harris, Valerie M.; Gopalakrishnan, Rajaram; Jonsson, Roland; Lessard, James A.; Lu, Xianglan; Gottenberg, Jacques-Eric; Anaya, Juan-Manuel; Cunninghame-Graham, Deborah S.; Huang, Andrew J. W.; Brennan, Michael T.; Hughes, Pamela; Illei, Gabor G.; Miceli-Richard, Corinne; Keystone, Edward C.; Bykerk, Vivian P.; Hirschfield, Gideon; Xie, Gang; Ng, Wan-Fai; Nordmark, Gunnel; Eriksson, Per; Omdal, Roald; Rhodus, Nelson L.; Rischmueller, Maureen; Rohrer, Michael; Segal, Barbara M.; Vyse, Timothy J.; Wahren-Herlenius, Marie; Witte, Torsten; Pons-Estel, Bernardo; Alarcon-Riquelme, Marta E.; Guthridge, Joel M.; James, Judith A.; Lessard, Christopher J.; Kelly, Jennifer A.; Thompson, Susan D.; Gaffney, Patrick M.; Montgomery, Courtney G.; Edberg, Jeffrey C; Kimberly, Robert P; Alarcón, Graciela S.; Langefeld, Carl L.; Gilkeson, Gary S.; Kamen, Diane L.; Tsao, Betty P.; McCune, W. Joseph; Salmon, Jane E.; Merrill, Joan T.; Weisman, Michael H; Wallace, Daniel J; Utset, Tammy O; Bottinger, Erwin P.; Amos, Christopher I.; Siminovitch, Katherine A.; Mariette, Xavier; Sivils, Kathy L.

    2016-01-01

    Objective More than 80% of autoimmune disease is female dominant, but the mechanism for this female bias is poorly understood. We suspected an X chromosome dose effect and hypothesized that trisomy X (47,XXX , 1 in ~1,000 live female births) would be increased in female predominant diseases (e.g. systemic lupus erythematosus [SLE], primary Sjögren’s syndrome [SS], primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA]) compared to diseases without female predominance (sarcoidosis) and controls. Methods We identified 47,XXX subjects using aggregate data from single nucleotide polymorphism (SNP) arrays and confirmed, when possible, by fluorescent in situ hybridization (FISH) or quantitative polymerase chain reaction (q-PCR). Results We found 47,XXX in seven of 2,826 SLE and three of 1,033 SS female patients, but only in two of the 7,074 female controls (p=0.003, OR=8.78, 95% CI: 1.67-86.79 and p=0.02, OR=10.29, 95% CI: 1.18-123.47; respectively). One 47,XXX subject was present for ~404 SLE women and ~344 SS women. 47,XXX was present in excess among SLE and SS subjects. Conclusion The estimated prevalence of SLE and SS in women with 47,XXX was respectively ~2.5 and ~2.9 times higher than in 46,XX women and ~25 and ~41 times higher than in 46,XY men. No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. PMID:26713507

  10. Case report: a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization.

    PubMed

    Sugawara, Nobuo; Kimura, Yasuyuki; Araki, Yasuhisa

    2013-03-01

    We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. The patient achieved a second pregnancy at 35 years of age. The her blood lymphocyte karyotype was examined by G-band and FISH. Furthermore, cumulus cells and her elbow skin cells were evaluated via FISH. Non-mosaic Turner syndrome was determined by G-banding [100 % (50/50) 45, X]. Lymphocytes were shown as 478/500 (95.6 %) cells of X sex chromosome signal, 15/500 (3.0 %) cells of XXX signal, and 7/500 (1.4 %) cells of XX signal. The cumulus cells were mosaic: 152/260 (58.5 %) were X; 84/260 (32.3 %) were XXX, 20/260 (7.7 %) were XX, and 4/260 (1.5 %) were XY. Moreover, skin cells included a mosaic karyotype [47, XXX(29)/46, XX(1)]. We conclude that the collection of a large number of blood lymphocytes can reveal different mosaic patterns (X, XX and XXX) by FISH in spite of non-mosaic Turner syndrome.

  11. X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.

    PubMed

    Liu, Ke; Kurien, Biji T; Zimmerman, Sarah L; Kaufman, Kenneth M; Taft, Diana H; Kottyan, Leah C; Lazaro, Sara; Weaver, Carrie A; Ice, John A; Adler, Adam J; Chodosh, James; Radfar, Lida; Rasmussen, Astrid; Stone, Donald U; Lewis, David M; Li, Shibo; Koelsch, Kristi A; Igoe, Ann; Talsania, Mitali; Kumar, Jay; Maier-Moore, Jacen S; Harris, Valerie M; Gopalakrishnan, Rajaram; Jonsson, Roland; Lessard, James A; Lu, Xianglan; Gottenberg, Jacques-Eric; Anaya, Juan-Manuel; Cunninghame-Graham, Deborah S; Huang, Andrew J W; Brennan, Michael T; Hughes, Pamela; Illei, Gabor G; Miceli-Richard, Corinne; Keystone, Edward C; Bykerk, Vivian P; Hirschfield, Gideon; Xie, Gang; Ng, Wan-Fai; Nordmark, Gunnel; Eriksson, Per; Omdal, Roald; Rhodus, Nelson L; Rischmueller, Maureen; Rohrer, Michael; Segal, Barbara M; Vyse, Timothy J; Wahren-Herlenius, Marie; Witte, Torsten; Pons-Estel, Bernardo; Alarcon-Riquelme, Marta E; Guthridge, Joel M; James, Judith A; Lessard, Christopher J; Kelly, Jennifer A; Thompson, Susan D; Gaffney, Patrick M; Montgomery, Courtney G; Edberg, Jeffrey C; Kimberly, Robert P; Alarcón, Graciela S; Langefeld, Carl L; Gilkeson, Gary S; Kamen, Diane L; Tsao, Betty P; McCune, W Joseph; Salmon, Jane E; Merrill, Joan T; Weisman, Michael H; Wallace, Daniel J; Utset, Tammy O; Bottinger, Erwin P; Amos, Christopher I; Siminovitch, Katherine A; Mariette, Xavier; Sivils, Kathy L; Harley, John B; Scofield, R Hal

    2016-05-01

    More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ∼1 in 1,000 live female births) would be increased in patients with female-predominant diseases (systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], primary biliary cirrhosis, and rheumatoid arthritis [RA]) compared to patients with diseases without female predominance (sarcoidosis) and compared to controls. All subjects in this study were female. We identified subjects with 47,XXX using aggregate data from single-nucleotide polymorphism arrays, and, when possible, we confirmed the presence of 47,XXX using fluorescence in situ hybridization or quantitative polymerase chain reaction. We found 47,XXX in 7 of 2,826 SLE patients and in 3 of 1,033 SS patients, but in only 2 of 7,074 controls (odds ratio in the SLE and primary SS groups 8.78 [95% confidence interval 1.67-86.79], P = 0.003 and odds ratio 10.29 [95% confidence interval 1.18-123.47], P = 0.02, respectively). One in 404 women with SLE and 1 in 344 women with SS had 47,XXX. There was an excess of 47,XXX among SLE and SS patients. The estimated prevalence of SLE and SS in women with 47,XXX was ∼2.5 and ∼2.9 times higher, respectively, than that in women with 46,XX and ∼25 and ∼41 times higher, respectively, than that in men with 46,XY. No statistically significant increase of 47,XXX was observed in other female-biased diseases (primary biliary cirrhosis or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. © 2016, American College of Rheumatology.

  12. 75 FR 32719 - Acquisition Regulation: Agency Supplementary Regulations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-06-09

    .... * * * * * COUNTERINTELLIGENCE (XXX 20XX) * * * * * 16. Section 970.5223-3 is amended by: a. Revising the date of the provision... SITES (XXX 20XX) * * * * * (b) * * * DOE may grant an extension to the notification or implementation... SUBSTANCE ABUSE PROGRAMS AT DOE SITES (XXX 20XX) * * * * * (c) Subcontracts. (1) The Contractor agrees to...

  13. The General Aviation Dynamics Model Volume III. Systems Manual.

    DTIC Science & Technology

    1979-07-01

    SEXi and SEX2 or in some other way, as desired by the user. The descriptors of an index are used as stubs (row descriptors) and/or spanners (column...BAR A produces the following plot [7 SUWPLO~TS DATASET A, 1970 TO 1975 8+ .QL xx YXXMX 4+ MXUXX IDLMXX XXXXXX * yyx :mx0(c XXX *m XXXX XX XXXXX XMxK...VXXXCK 2+ mm~ XXXXX MMXXX I~CUM LXXMXx *X2~ XXX xXX =uXX ImXXXLMX * xx Iac lxxno IXxc= )LccIQX * XX= )LXXX ILMKXX X.XXXX IXXCX SHOW

  14. 40 CFR 86.1807-01 - Vehicle labeling.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-Fueled 20XX Model Year New Motor... Applicable to XXX-Fueled 20XX Model Year New Light-Duty Trucks.” (C) For medium-duty passenger vehicles, the statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-fueled 20XX Model Year New...

  15. 40 CFR 86.1807-01 - Vehicle labeling.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... XXX-Fueled 20XX Model Year New Motor Vehicles.” (B) For light-duty trucks, the statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-Fueled 20XX Model Year New Light-Duty Trucks... Applicable to XXX-fueled 20XX Model Year New Medium-Duty Passenger Vehicles.” (D) For heavy-duty vehicles...

  16. A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.

    PubMed

    Yang, Xingyi; Ye, Zilan; Zhang, Xiaofang; Wang, Huijun; Liu, Chao

    2017-07-01

    Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features. However, the trisomy X in this case, without any of these phenotype, is rarely reported. Here, we report a case found during DNA sample collection in a study of genetic polymorphism analysis of loci in Chinese ethnic group, of a female with neither laboratory or clinical signs of Triple X syndrome. She was born at her mother's 60years old and her father's 62years old. Advanced maternal age was found acting as a significant risk factor of Triplo-X. Moreover, her child are also born without manifestations of 47, XXX syndrome. Pedigree study demonstrated the normal karyotype of the children. A diagnosis of 47XXX was made on the basis of a chromosomal study. Therefore, laboratory investigations (including PCR amplification, more than two kinds of X-STR genotyping, G-banding karyotyping analysis and Pedigree study) are applied to rule out the possibility of Mosaicism (45, X0/47, XXX) and ascertain her 47XXX karyotype without mosaic. The objective of this study was to report a case of trisomy X, diagnostic investigation and management of the case, and to analysis the genetically possible reasons behind the case. To our knowledge, this case is a rare one, found in DNA sample collection for the estimation of gene frequency in the process of genetic polymorphism study, of non-mosaic 47, XXX without signs of physical syndrome and born healthy children. In this study, it revealed that the proportion of trisomy X would be more than official statistics and risk of systemic disabilities is lower than estimated. Moreover, we found out that sample mixture and mosaicism act as the interference factors in forensic test. Therefore, we draw the conclusion that

  17. 16 CFR 309.15 - Posting of non-liquid alternative vehicle fuel rating.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...): (1) “CNG” “Minimum” “XXX%” “Methane” (2) “Hydrogen” “Minimum” “XXX%” “Hydrogen” (f) The following... illustration of compliance with this part: “Electricity” “XX kW” “XXX vac/XX amps” “Inductive” (g) When you...

  18. 16 CFR 309.15 - Posting of non-liquid alternative vehicle fuel rating.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...): (1) “CNG” “Minimum” “XXX%” “Methane” (2) “Hydrogen” “Minimum” “XXX%” “Hydrogen” (f) The following... illustration of compliance with this part: “Electricity” “XX kW” “XXX vac/XX amps” “Inductive” (g) When you...

  19. 16 CFR 309.15 - Posting of non-liquid alternative vehicle fuel rating.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...): (1) “CNG” “Minimum” “XXX%” “Methane” (2) “Hydrogen” “Minimum” “XXX%” “Hydrogen” (f) The following... illustration of compliance with this part: “Electricity” “XX kW” “XXX vac/XX amps” “Inductive” (g) When you...

  20. 16 CFR 309.15 - Posting of non-liquid alternative vehicle fuel rating.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...): (1) “CNG” “Minimum” “XXX%” “Methane” (2) “Hydrogen” “Minimum” “XXX%” “Hydrogen” (f) The following... illustration of compliance with this part: “Electricity” “XX kW” “XXX vac/XX amps” “Inductive” (g) When you...

  1. 16 CFR 309.15 - Posting of non-liquid alternative vehicle fuel rating.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...): (1) “CNG” “Minimum” “XXX%” “Methane” (2) “Hydrogen” “Minimum” “XXX%” “Hydrogen” (f) The following... illustration of compliance with this part: “Electricity” “XX kW” “XXX vac/XX amps” “Inductive” (g) When you...

  2. 40 CFR 86.1807-01 - Vehicle labeling.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Conforms to U.S. EPA Regulations Applicable to XXX-Fueled 20XX Model Year New Motor Vehicles.” (B) For light-duty trucks, the statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX...: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-fueled 20XX Model Year New Medium-Duty...

  3. 40 CFR 86.1807-01 - Vehicle labeling.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Conforms to U.S. EPA Regulations Applicable to XXX-Fueled 20XX Model Year New Motor Vehicles.” (B) For light-duty trucks, the statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX...: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-fueled 20XX Model Year New Medium-Duty...

  4. 40 CFR 86.1807-01 - Vehicle labeling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... Conforms to U.S. EPA Regulations Applicable to XXX-Fueled 20XX Model Year New Motor Vehicles.” (B) For light-duty trucks, the statement: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX...: “This Vehicle Conforms to U.S. EPA Regulations Applicable to XXX-fueled 20XX Model Year New Medium-Duty...

  5. Bethe vectors for XXX-spin chain

    NASA Astrophysics Data System (ADS)

    Burdík, Čestmír; Fuksa, Jan; Isaev, Alexei

    2014-11-01

    The paper deals with algebraic Bethe ansatz for XXX-spin chain. Generators of Yang-Baxter algebra are expressed in basis of free fermions and used to calculate explicit form of Bethe vectors. Their relation to N-component models is used to prove conjecture about their form in general. Some remarks on inhomogeneous XXX-spin chain are included.

  6. Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

    PubMed Central

    Kırkızlar, Eser; Hall, Megan P.; Demko, Zachary; Zneimer, Susan M.; Curnow, Kirsten J.; Gross, Susan; Gropman, Andrea

    2016-01-01

    Background X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear. Methods This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age). Results From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions. Conclusions Single chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases. PMID:27512996

  7. [An XXX female with essential thrombocythemia].

    PubMed

    Ohta, Tadanobu; Hagiwara, Kioyuki; Makita, Kaori; Mugitani, Atuko; Ohta, Kensuke; Yamane, Takahisa; Takubo, Takayuki; Hino, Masayuki

    2003-07-01

    We describe an XXX female patient accompanied with essential thrombocythemia. To our knowledge this is the first case ever to have been reported. The patient was asymptomatic, but her platelet count had increased to 111.2 x 10(4)/microliter, and she was diagnosed as having essential thrombocythemia based on the diagnostic criteria of the Polycythemia Vera Study Group. At the same time, chromosome analysis of bone marrow cells revealed that she was an XXX female. The patient remained asymptomatic throughout the course of treatment.

  8. Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

    2008-06-01

    To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

  9. Spectrum lines of highly ionized zinc, germanium, selenium, zirconium, molybdenum, and silver injected into Princeton Large Torus and Tokamak Fusion Test Reactor tokamak discharges

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Hinnov, E.; Boody, F.; Cohen, S.

    1986-10-01

    Measured wavelengths of a number of highly ionized atoms are reported. These include the 3s/sup 2/3p--3s3p/sup 2/ and 3s/sup 2/3p--3s/sup 2/3d transitions in the aluminum isoelectronic sequence of Zn XVIII, Ge XX, Se XXII, Zr XXVIII, Mo XXX, and Ag XXXV; several transitions in the n = 2 shell of Zn XXII, Zn XXIII, and Zn XXIV; and the resonance and intercombination lines of Ag XXXVI--Ag XXXVII and of Ge XXIX--Ge XXX.

  10. Double trisomy 48,XXX,+18 with multiple dysmorphic features.

    PubMed

    Jiang, Zi-Yan; Wu, Xiao-Hui; Zou, Chao-Chun

    2015-02-01

    Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. Case report and literature review. A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed. These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

  11. 48 CFR 752.7003 - Documentation for payment.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... information to be reported with the following elements: Total Expenditures [Document Number: XXX-X-XX-XXXX-XX.... for Line Item 001 $XXXX.XX $ XXXX.XX 002 Product/Service Desc. for Line Item 002 XXXX.XX XXXX.XX Total XXXX.XX XXXX.XX (2) The fiscal report shall include the following certification signed by an authorized...

  12. Ensuring the Continued Relevance of Long Range Surveillance Units

    DTIC Science & Technology

    2002-05-31

    reconnaissance units (see figure 2). 18 XXX XXX XX XX Corps Area of OperationsDivision Area of Operations Corps FLOT Division FLOT Scouts, Recon Teams 0 LRSC...while a student in LRSLC stated: “You just can’t beat it. A lot of guys don’t like it because you don’t get an award for it. It’s not a sexy

  13. Mortality and incidence in women with 47,XXX and variants.

    PubMed

    Stochholm, Kirstine; Juul, Svend; Gravholt, Claus Højbjerg

    2010-02-01

    47,XXX syndrome is among the most common sex chromosomal disorders; however, apart from screening surveys, epidemiological data are limited. We report data on 136 women diagnosed with 47,XXX or a compatible karyotype in Denmark during 1963-2008. We identified an incidence of 10.7 per 100,000 liveborn girls, which was lower than expected and was stable during the study period. Age at diagnosis ranged from 0 to 73 years, with a diagnostic delay of 18.2 years or more in half the 47,XXX persons. We compared persons with 47,XXX with an age-matched cohort of the female background population (born same year and month), identified in Statistics Denmark (n = 13,400). Mortality was significantly increased in total with a hazard ratio of 2.5 (1.6-3.9), corresponding to a difference in median survival of 7.7 years. When we divided causes of death into 19 chapters according to the International Classification of Diseases, a generally increased mortality was identified in all informative chapters. Furthermore, we identified significantly increased mortality in cardiovascular diseases, in the chapter concerning chromosomal and congenital defects, and in the chapter of unspecified diseases. Better delineation of the clinical phenotype of 47,XXX is needed; available information does not readily explain the increased mortality. Copyright 2010 Wiley-Liss, Inc.

  14. 49 CFR 1242.33 - Other expenses and casualties and insurance (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50...

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50-18-00, and 50-19-00). 1242.33 Section 1242.33....33 Other expenses and casualties and insurance (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50... separation of administrative—other (account XX-19-06). Operating Expenses—Equipment locomotives ...

  15. Partial epilepsy and 47,XXX karyotype: report of four cases.

    PubMed

    Roubertie, Agathe; Humbertclaude, Véronique; Leydet, Julie; Lefort, Geneviève; Echenne, Bernard

    2006-07-01

    Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

  16. Acoustic Radiation Force Impulse Elastography for Efficacy Evaluation after Hepatocellular Carcinoma Radiofrequency Ablation: A Comparative Study with Contrast-Enhanced Ultrasound

    PubMed Central

    Xu, Xiaohong; Luo, Liangping; Chen, Jiexin; Wang, Jiexin; Zhou, Honglian; Li, Mingyi; Jin, Zhanqiang; Chen, Nianping; Miao, Huilai; Lin, Manzhou; Dai, Wei; Ahuja, Anil T.; Wang, Yi-Xiang J.

    2014-01-01

    Aim. To explore acoustic radiation force impulse (ARFI) elastography in assessing residual tumors of hepatocellular carcinoma (HCC) after radiofrequency ablation (RFA). Materials and Methods. There were 83 HCC lesions among 72 patients. All patients were examined with ARFI, contrast enhanced ultrasound (CEUS), and CT or MRI. Tumor brightness on virtual touch tissue imaging (VTI) and shear wave velocity (SWV) were assessed before and approximately one month after RFA. Results. There were 14 residual tumors after RFA. VTI showed that all the tumors were darker after RFA. VTI was not able to distinguish the ablated lesions and the residual tumors. 13 residual tumor lesions were detected by CEUS. All completely ablated nodules had SWV demonstration of x.xx., while with those residual nodules, 6 tumors had x.xx measurement and 8 tumors had measurable SWV. nine lesions with residual tumors occurred in cirrhosis subjects and 5 lesions with residual tumors occurred in fibrosis subjects; there was no residual tumor in the normal liver subjects. Conclusion. VTI technique cannot demonstrate residual tumor post RFA. While SWV measurement of less than x.xx is likely associated with residual tumors, measurement of less than x.xx cannot exclude residual tumors. Liver cirrhosis is associated with decreased chance of a complete ablation. PMID:24895624

  17. Flexible xxx-asp/asn and gly-xxx residues of equine cytochrome C in matrix-assisted laser desorption/ionization in-source decay mass spectrometry.

    PubMed

    Takayama, Mitsuo

    2012-01-01

    The backbone flexibility of a protein has been studied from the standpoint of the susceptibility of amino acid residues to in-source decay (ISD) in matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS). Residues more susceptible to MALDI-ISD, namely Xxx-Asp/Asn and Gly-Xxx, were identified from the discontinuous intense peak of c'-ions originating from specific cleavage at N-Cα bonds of the backbone of equine cytochrome c. The identity of the residues susceptible to ISD was consistent with the known flexible backbone amides as estimated by hydrogen/deuterium exchange (HDX) experiments. The identity of these flexible amino acid residues (Asp, Asn, and Gly) is consistent with the fact that these residues are preferred in flexible secondary structure free from intramolecular hydrogen-bonded structures such as α-helix and β-sheet. The MALDI-ISD spectrum of equine cytochrome c gave not only intense N-terminal side c'-ions originating from N-Cα bond cleavage at Xxx-Asp/Asn and Gly-Xxx residues, but also C-terminal side complement z'-ions originating from the same cleavage sites. The present study implies that MALDI-ISD can give information about backbone flexibility of proteins, comparable with the protection factors estimated by HDX.

  18. N-Terminal Cu-Binding Motifs (Xxx-Zzz-His, Xxx-His) and Their Derivatives: Chemistry, Biology and Medicinal Applications.

    PubMed

    Gonzalez, Paulina; Bossak, Karolina; Stefaniak, Ewelina; Hureau, Christelle; Raibaut, Laurent; Bal, Wojciech; Faller, Peter

    2018-06-07

    Peptides and proteins with N-terminal amino acid sequences NH 2 -Xxx-His (XH) and NH 2 -Xxx-Zzz-His (XZH) form well-established high-affinity Cu II -complexes. Key examples are Asp-Ala-His (in serum albumin) and Gly-His-Lys, the wound healing factor. This opens a straightforward way to add a high-affinity Cu II -binding site to almost any peptide or protein, by chemical or recombinant approaches. Thus, these motifs, NH 2 -Xxx-Zzz-His in particular, have been used to equip peptides and proteins with a multitude of functions based on the redox activity of Cu, including nuclease, protease, glycosidase, or oxygen activation properties, useful in anticancer or antimicrobial drugs. More recent research suggests novel biological functions, mainly based on the redox inertness of Cu II in XZH, like PET imaging (with 64 Cu), chelation therapies (for instance in Alzheimer's disease and other types of neurodegeneration), antioxidant units, Cu transporters and activation of biological functions by strong Cu II binding. This Review gives an overview of the chemical properties of Cu-XH and -XZH motifs and discusses the pros and cons of the vastly different biological applications, and how they could be improved depending on the application. © 2018 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  19. The topological basis realization and the corresponding XXX spin chain

    NASA Astrophysics Data System (ADS)

    Sun, C. F.; Xue, K.; Wang, G. C.; Zhou, C. C.; Du, G. J.

    2011-06-01

    In this paper, it is shown that the XXX model can be constructed from the Temperley-Lieb algebra (TLA) generator. We find that the topological basis states are the two eigenstaes of a closed four-qubit Heisenberg XXX spin chain. Specifically, the spin single states and the energy single state of the system all fall on the topological basis states. It is worth mentioning that for the closed 2N-qubit (N=2, 3, 4, ...) Heisenberg XXX spin chain, all the topological basis states for 2N particles are the spin single states of the system. And the number of the topological basis states is equal to the number of the spin single states of the system, which is \\frac{(2N)!}{N!(N+1)!} .

  20. Prenatal diagnosis of 47,XXX.

    PubMed

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  1. Comparison of growth-related traits and gene expression profiles between the offspring of neomale (XX) and normal male (XY) rainbow trout.

    PubMed

    Kocmarek, Andrea L; Ferguson, Moira M; Danzmann, Roy G

    2015-04-01

    All-female lines of fish are created by crossing sex reversed (XX genotype) males with normal females. All-female lines avoid the deleterious phenotypic effects that are typical of precocious maturation in males. To determine whether all-female and mixed sex populations of rainbow trout (Oncorhynchus mykiss) differ in performance, we compared the growth and gene expression profiles in progeny groups produced by crossing a XX male and a XY male to the same five females. Body weight and length were measured in the resulting all-female (XX) and mixed sex (XX/XY) offspring groups. Microarray experiments with liver and white muscle were used to determine if the gene expression profiles of large and small XX offspring differ from those in large and small XX/XY offspring. We detected no significant differences in body length and weight between offspring groups but XX offspring were significantly less variable in the value of these traits. A large number of upregulated genes were shared between the large XX and large XX/XY offspring; the small XX and small XX/XY offspring also shared similar expression profiles. No GO category differences were seen in the liver or between the large XX and large XX/XY offspring in the muscle. The greatest differences between the small XX and small XX/XY offspring were in the genes assigned to the "small molecule metabolic process" and "cellular metabolic process" GO level 3 categories. Similarly, genes within these categories as well as the category "macromolecule metabolic process" were more highly expressed in small compared to large XX fish.

  2. Cu(II) Binding to the Peptide Ala-His-His, a Chimera of the Canonical Cu(II)-Binding Motifs Xxx-His and Xxx-Zzz-His.

    PubMed

    Gonzalez, Paulina; Vileno, Bertrand; Bossak, Karolina; El Khoury, Youssef; Hellwig, Petra; Bal, Wojciech; Hureau, Christelle; Faller, Peter

    2017-12-18

    Peptides and proteins with the N-terminal motifs NH 2 -Xxx-His and NH 2 -Xxx-Zzz-His form well-established Cu(II) complexes. The canonical peptides are Gly-His-Lys and Asp-Ala-His-Lys (from the wound healing factor and human serum albumin, respectively). Cu(II) is bound to NH 2 -Xxx-His via three nitrogens from the peptide and an external ligand in the equatorial plane (called 3N form here). In contrast, Cu(II) is bound to NH 2 -Xxx-Zzz-His via four nitrogens from the peptide in the equatorial plane (called 4N form here). These two motifs are not mutually exclusive, as the peptides with the sequence NH 2 -Xxx-His-His contain both of them. However, this chimera has never been fully explored. In this work, we use a multispectroscopic approach to analyze the Cu(II) binding to the chimeric peptide Ala-His-His (AHH). AHH is capable of forming the 3N- and 4N-type complexes in a pH dependent manner. The 3N form predominates at pH ∼ 4-6.5 and the 4N form at ∼ pH 6.5-10. NMR experiments showed that at pH 8.5, where Cu(II) is almost exclusively bound in the 4N form, the Cu(II)-exchange between AHH or the amidated AHH-NH 2 is fast, in comparison to the nonchimeric 4N form (AAH). Together, the results show that the chimeric AHH can access both Cu(II) coordination types, that minor changes in the second (or further) coordination sphere can impact considerably the equilibrium between the forms, and that Cu kinetic exchange is fast even when Cu-AHH is mainly in the 4N form.

  3. Department of the Navy Correspondence Manual

    DTIC Science & Technology

    2010-03-01

    Abbreviated rank for officers and rate and warfare designator for enlisted personnel (e.g., AD1(AW), BM2(SW), CSSN(SS)) with no space between rank/rate and...warfare designator , (2) first name, middle initial if any, and last name, (3) staff corps abbreviation (if any), (4) branch of service, (5) the last four...digits of the SSN, and (6) the designator for an officer. EXAMPLE: RADM Michelle L. Howard, USN, XXX-XX-1234/1110 CDR Gilbert L. Williams, USN, XXX-XX

  4. Poor socio-economic status in 47,XXX --an unexpected effect of an extra X chromosome.

    PubMed

    Stochholm, Kirstine; Juul, Svend; Gravholt, Claus H

    2013-06-01

    One of the most common sex chromosomal abnormalities in females is 47,XXX syndrome, which is characterized by tall stature and reduced IQ, but with a variable phenotype. In order to elaborate on the characteristics of this syndrome, we undertook an investigation in all diagnosed 47,XXX females at risk in Denmark and compared their socio-economic status with an age-matched cohort of the female background population as well as with all Danes diagnosed with Turner syndrome. We focused on cohabitation, motherhoods, income, education, retirement and convictions. Furthermore, we investigated whether some of these parameters influenced the increased mortality identified previously. Thus, socio-economic data were retrieved in 108 47,XXX persons, 10,297 controls, and 831 with Turner syndrome. Comparing the 47,XXX persons with their controls, we identified significantly decreased numbers of first partnership, number of mothers, and number of persons with an education in 47,XXX persons. Significantly more 47,XXX persons retired. In the younger age groups an increased number had income below the median among controls. The increased mortality identified previously was not explained by the reduced number of partnerships or the reduced number of persons with an education. Comparing the 47,XXX persons with Turner syndrome persons, we identified increased number of first partnership, number of mothers, and reduced level of education. We hypothesize that the significantly decreased number of 47,XXX persons becoming mothers could be due to hypogonadism in some. The affected socio-economic status suggests that the presence of an extra X chromosome has more detrimental effects than previously appreciated. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  5. 49 CFR 1242.36 - Machinery repair and equipment damaged (accounts XX-26-40 and XX-26-48).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... XX-26-40 and XX-26-48). 1242.36 Section 1242.36 Transportation Other Regulations Relating to... (accounts XX-26-40 and XX-26-48). Separate common expenses according to separation of common expenses in repair and maintenance (account XX-26-41). ...

  6. [Phenotypic variability in 47, XXX patients: Clinical report of four new cases].

    PubMed

    Goldschmidt, Ernesto; Márquez, Marisa; Solari, Andrea; Ziembar, María I; Laudicina, Alejandro

    2010-08-01

    The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn t have any specific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

  7. 49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Highway grade crossings (accounts XX-17-22 and XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and XX-18-22). Separate running and switching common expenses according to distribution of the running...

  8. Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

    PubMed

    Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

    2013-08-01

    Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

  9. 49 CFR 1242.30 - Dismantling retired road property and depreciation (accounts XX-17-39, XX-18-39, XX-19-39, 62-17...

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired road property and depreciation....30 Dismantling retired road property and depreciation (accounts XX-17-39, XX-18-39, XX-19-39, 62-17..., switching and other) in proportion to the separation of common repair and maintenance expenses associated...

  10. 49 CFR 1242.84 - Marketing, sales, and public relations and advertising (accounts XX-63-88, XX-63-89 and XX-63-93).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Marketing, sales, and public relations and advertising (accounts XX-63-88, XX-63-89 and XX-63-93). 1242.84 Section 1242.84 Transportation Other... PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses § 1242.84 Marketing, sales, and public relations and...

  11. 49 CFR 1242.17 - Signals and interlockers (accounts XX-17-19 and XX-18-19).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Signals and interlockers (accounts XX-17-19 and XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.17 Signals and interlockers (accounts XX-17-19 and XX-18-19). Separate common expenses on the basis of the total train-hours in running service, and/or...

  12. Triple X Egyptian woman and a Down's syndrome offspring

    PubMed Central

    El-Dahtory, Faeza Abdel Mogib

    2013-01-01

    The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband. PMID:23901206

  13. 78 FR 34092 - Lock+ Hydro Friends Fund XXX, LLC; FFP Project 121, LLC; Notice of Competing Preliminary Permit...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-06

    .... 14504-000] Lock+ Hydro Friends Fund XXX, LLC; FFP Project 121, LLC; Notice of Competing Preliminary... Applications Lock+ Hydro Friends Fund XXX, LLC and FFP Project 121, LLC filed preliminary permit applications... regular business day. See id. at 385.2001(a)(2). Lock+ Hydro Friends Fund XXX, LLC's application is for a...

  14. Towards Understanding the Tandem Mass Spectra of Protonated Oligopeptides. 2: The Proline Effect in Collision-Induced Dissociation of Protonated Ala-Ala-Xxx-Pro-Ala (Xxx = Ala, Ser, Leu, Val, Phe, and Trp)

    NASA Astrophysics Data System (ADS)

    Bleiholder, Christian; Suhai, Sándor; Harrison, Alex G.; Paizs, Béla

    2011-06-01

    The product ion spectra of proline-containing peptides are commonly dominated by y n ions generated by cleavage at the N-terminal side of proline residues. This proline effect is investigated in the current work by collision-induced dissociation (CID) of protonated Ala-Ala-Xxx-Pro-Ala (Xxx includes Ala, Ser, Leu, Val, Phe, and Trp) in an electrospray/quadrupole/time-of-flight (QqTOF) mass spectrometer and by quantum chemical calculations on protonated Ala-Ala-Ala-Pro-Ala. The CID spectra of all investigated peptides show a dominant y 2 ion (Pro-Ala sequence). Our computational results show that the proline effect mainly arises from the particularly low threshold energy for the amide bond cleavage N-terminal to the proline residue, and from the high proton affinity of the proline-containing C-terminal fragment produced by this cleavage. These theoretical results are qualitatively supported by the experimentally observed y 2 / b 3 abundance ratios for protonated Ala-Ala-Xxx-Pro-Ala (Xxx = Ala, Ser, Leu, Val, Phe, and Trp). In the post-cleavage phase of fragmentation the N-terminal oxazolone fragment with the Ala-Ala-Xxx sequence and Pro-Ala compete for the ionizing proton for these peptides. As the proton affinity of the oxazolone fragment increases, the y 2 / b 3 abundance ratio decreases.

  15. Towards understanding the tandem mass spectra of protonated oligopeptides. 2: The proline effect in collision-induced dissociation of protonated Ala-Ala-Xxx-Pro-Ala (Xxx = Ala, Ser, Leu, Val, Phe, and Trp).

    PubMed

    Bleiholder, Christian; Suhai, Sándor; Harrison, Alex G; Paizs, Béla

    2011-06-01

    The product ion spectra of proline-containing peptides are commonly dominated by y(n) ions generated by cleavage at the N-terminal side of proline residues. This proline effect is investigated in the current work by collision-induced dissociation (CID) of protonated Ala-Ala-Xxx-Pro-Ala (Xxx includes Ala, Ser, Leu, Val, Phe, and Trp) in an electrospray/quadrupole/time-of-flight (QqTOF) mass spectrometer and by quantum chemical calculations on protonated Ala-Ala-Ala-Pro-Ala. The CID spectra of all investigated peptides show a dominant y(2) ion (Pro-Ala sequence). Our computational results show that the proline effect mainly arises from the particularly low threshold energy for the amide bond cleavage N-terminal to the proline residue, and from the high proton affinity of the proline-containing C-terminal fragment produced by this cleavage. These theoretical results are qualitatively supported by the experimentally observed y(2)/b(3) abundance ratios for protonated Ala-Ala-Xxx-Pro-Ala (Xxx = Ala, Ser, Leu, Val, Phe, and Trp). In the post-cleavage phase of fragmentation the N-terminal oxazolone fragment with the Ala-Ala-Xxx sequence and Pro-Ala compete for the ionizing proton for these peptides. As the proton affinity of the oxazolone fragment increases, the y(2)/b(3) abundance ratio decreases.

  16. Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX.

    PubMed

    Rolle, Udo; Linse, Barbara; Glasow, Simone; Sandig, Klaus Rainer; Richter, Thomas; Till, Holger

    2007-08-01

    An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients. 2007 Wiley-Liss, Inc.

  17. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

    PubMed

    Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

    2016-06-01

    Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  18. Female-to-male transsexual with 47,XXX karyotype.

    PubMed

    Turan, M T; Eşel, E; Dündar, M; Candemir, Z; Baştürk, M; Sofuoğlu, S; Ozkul, Y

    2000-12-01

    There are few reports describing chromosomal abnormalities in transsexuals. In rare cases, transsexualism and sexual chromosomal multiplicity coexist. Six cases of male-to-female transsexuals with 47,XYY chromosomal pattern have been previously reported. We have not encountered any female transsexual cases with 47,XXX karyotype in the literature. A 21-year-old female patient came to our outpatient department with depressive symptoms and suicidal thoughts. On psychiatric interview, she reported that she had feelings of discomfort with her gender identity and had desired to be male since her childhood. Then, we performed cytogenetic investigation using blood culture and G chromosome banding. Histology and DNA histograms of the patient revealed a chromosomal pattern of 47,XXX. We conclude that sexual chromosomal abnormalities in some transsexuals may cause a vulnerability to development of a gender identity disorder.

  19. First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

    PubMed

    Rodríguez Criado, G; Galán Gómez, E; Tizzano, E F; García Rodríguez, E; Gómez de Terreros, I

    2007-01-01

    We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

  20. 77 FR 23241 - Lock+ Hydro Friends Fund XXX, LLC; Notice of Intent To File License Application, Filing of Pre...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-18

    ... Friends Fund XXX, LLC; Notice of Intent To File License Application, Filing of Pre-Application Document.... Date Filed: February 20, 2012. d. Submitted By: Lock+ Hydro Friends Fund XXX, LLC. e. Name of Project... Applicant Contact: Mr. Mark R. Stover, Lock+\\TM\\ Hydro Friends Fund XXX, c/o Hydro Green Energy, LLC, 900...

  1. Culturally Responsive Pain Management for Black Older Adults.

    PubMed

    Robinson-Lane, Sheria G; Booker, Staja Q

    2017-03-02

    HOW TO OBTAIN CONTACT HOURS BY READING THIS ARTICLE INSTRUCTIONS XX contact hours will be awarded by Villanova University College of Nursing upon successful completion of this activity. A contact hour is a unit of measurement that denotes 60 minutes of an organized learning activity. This is a learner-based activity. Villanova University College of Nursing does not require submission of your answers to the quiz. A contact hour certificate will be awarded once you register, pay the registration fee, and complete the evaluation form online at http://goo.gl/gMfXaf. To obtain contact hours you must: 1. Read the article, "XXXX XXXX XXXXXX XXXXXXX XXXX XXXX XXX XXX XXXX XX" found on pages XX-XX, carefully noting any tables and other illustrative materials that are included to enhance your knowledge and understanding of the content. Be sure to keep track of the amount of time (number of minutes) you spend reading the article and completing the quiz. 2. Read and answer each question on the quiz. After completing all of the questions, compare your answers to those provided within this issue. If you have incorrect answers, return to the article for further study. 3. Go to the Villanova website listed above to register for contact hour credit. You will be asked to provide your name; contact information; and a VISA, MasterCard, or Discover card number for payment of the $20.00 fee. Once you complete the online evaluation, a certificate will be automatically generated. This activity is valid for continuing education credit until MONTH XX, 20XX. CONTACT HOURS This activity is co-provided by Villanova University College of Nursing and SLACK Incorporated. Villanova University College of Nursing is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's Commission on Accreditation. ACTIVITY OBJECTIVES 1. XXX 2. XXX DISCLOSURE STATEMENT Neither the planners nor the author have any conflicts of interest to disclose. The management of

  2. 49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

  3. 49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 9 2012-10-01 2012-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

  4. 49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 9 2014-10-01 2014-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

  5. 49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 9 2013-10-01 2013-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

  6. A microstructure-based yield stress and work-hardening model for textured 6xxx aluminium alloys

    NASA Astrophysics Data System (ADS)

    Khadyko, M.; Myhr, O. R.; Dumoulin, S.; Hopperstad, O. S.

    2016-04-01

    The plastic properties of an aluminium alloy are defined by its microstructure. The most important factors are the presence of alloying elements in the form of solid solution and precipitates of various sizes, and the crystallographic texture. A nanoscale model that predicts the work-hardening curves of 6xxx aluminium alloys was proposed by Myhr et al. The model predicts the solid solution concentration and the particle size distributions of different types of metastable precipitates from the chemical composition and thermal history of the alloy. The yield stress and the work hardening of the alloy are then determined from dislocation mechanics. The model was largely used for non-textured materials in previous studies. In this work, a crystal plasticity-based approach is proposed for the work hardening part of the nanoscale model, which allows including the influence of the crystallographic texture. The model is evaluated by comparison with experimental data from uniaxial tensile tests on two textured 6xxx alloys in five temper conditions.

  7. Pituitary tumor in a woman with a 47,XXX karyotype--case report.

    PubMed

    Witek, A; Skałba, P; Zieba, M

    2001-01-01

    The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In presented case a 47 triple X women with pituitary tumor and premature ovarian failure is identified. Diagnosis of a 47,XXX individual remains difficult because specific clinical criteria used to identify this condition are not available. The case described should attract attention to how difficult it is to diagnose properly a genetic disease in young women with correct phenotype.

  8. Neumann boundary controllability of the Gear-Grimshaw system with critical size restrictions on the spatial domain

    NASA Astrophysics Data System (ADS)

    Capistrano-Filho, Roberto A.; Gallego, Fernando A.; Pazoto, Ademir F.

    2016-10-01

    In this paper, we study the boundary controllability of the Gear-Grimshaw system posed on a finite domain (0, L), with Neumann boundary conditions: ut + uu_x+u_{xxx} + a v_{xxx} + a_1vv_x+a_2 (uv)_x =0, & {in} (0,L)× (0,T), c v_t +rv_x +vv_x+abu_{xxx} +v_{xxx}+a_2buu_x+a_1b(uv)_x =0, &{in} (0,L)× (0,T), u_{xx}(0,t)=h_0(t), u_x(L,t)=h_1(t), u_{xx}(L,t)=h_2(t), &{in} (0,T), v_{xx}(0,t)=g_0(t), v_x(L,t)=g_1(t), v_{xx}(L,t)=g_2(t), &{in} (0,T), u(x,0)= u^0(x), quad v(x,0)= v^0(x), & {in} (0,L). We first prove that the corresponding linearized system around the origin is exactly controllable in {(L^2(0,L))^2} when h 2( t) = g 2( t) = 0. In this case, the exact controllability property is derived for any L > 0 with control functions {h_0, g_0 in H^{-1/3}(0,T)} and {h_1, g_1in L^2(0,T)}. If we change the position of the controls and consider {h_0(t)=h_2(t)=0} (resp. {g_0(t)=g_2(t)=0)}, we obtain the result with control functions {g_0, g_2in H^{-1/3}(0,T)} and {h_1, g_1in L^2(0,T)} if and only if the length L of the spatial domain (0, L) does not belong to a countable set. In all cases, the regularity of the controls are sharp in time. If only one control act in the boundary condition, {h_0(t)=g_0(t)=h_2(t)=g_2(t)=0} and g 1( t) = 0 (resp. h 1( t) = 0), the linearized system is proved to be exactly controllable for small values of the length L and large time of control T. Finally, the nonlinear system is shown to be locally exactly controllable via the contraction mapping principle, if the associated linearized systems are exactly controllable.

  9. 49 CFR 1242.28 - Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38...

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... snow removal (accounts XX-19-36 to XX-19-38, inclusive). 1242.28 Section 1242.28 Transportation Other... tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38, inclusive). Separate common expenses according to distribution of common expenses listed in § 1242.10, Administration—Track (account XX...

  10. Aspects of Self and Identity in Narrations About Recent Events: Communication With Individuals With Alzheimer's Disease Enabled by a Digital Photograph Diary.

    PubMed

    Karlsson, Eva; Zingmark, Karin; Axelsson, Karin; Sävenstedt, Stefan

    2017-02-02

    HOW TO OBTAIN CONTACT HOURS BY READING THIS ARTICLE INSTRUCTIONS XX contact hours will be awarded by Villanova University College of Nursing upon successful completion of this activity. A contact hour is a unit of measurement that denotes 60 minutes of an organized learning activity. This is a learner-based activity. Villanova University College of Nursing does not require submission of your answers to the quiz. A contact hour certificate will be awarded once you register, pay the registration fee, and complete the evaluation form online at http://goo.gl/gMfXaf. To obtain contact hours you must: 1. Read the article, "XXXX XXXX XXXXXX XXXXXXX XXXX XXXX XXX XXX XXXX XX" found on pages XX-XX, carefully noting any tables and other illustrative materials that are included to enhance your knowledge and understanding of the content. Be sure to keep track of the amount of time (number of minutes) you spend reading the article and completing the quiz. 2. Read and answer each question on the quiz. After completing all of the questions, compare your answers to those provided within this issue. If you have incorrect answers, return to the article for further study. 3. Go to the Villanova website listed above to register for contact hour credit. You will be asked to provide your name; contact information; and a VISA, MasterCard, or Discover card number for payment of the $20.00 fee. Once you complete the online evaluation, a certificate will be automatically generated. This activity is valid for continuing education credit until MONTH XX, 20XX. CONTACT HOURS This activity is co-provided by Villanova University College of Nursing and SLACK Incorporated. Villanova University College of Nursing is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's Commission on Accreditation. ACTIVITY OBJECTIVES 1. XXX 2. XXX DISCLOSURE STATEMENT Neither the planners nor the author have any conflicts of interest to disclose. The ability to

  11. 78 FR 49509 - Lock+ Hydro Friends Fund XXX, LLC; FFP Project 121, LLC; Notice Announcing Preliminary Permit...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-14

    ... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [ Project No. 13625-003; Project No. 14504-000] Lock+ Hydro Friends Fund XXX, LLC; FFP Project 121, LLC; Notice Announcing Preliminary Permit... and Jefferson County, Ohio. The applications were filed by Lock+ Hydro Friends Fund XXX, LLC for...

  12. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

    PubMed

    Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

  13. 49 CFR 1242.56 - Engine crews and train crews (accounts XX-51-56 and XX-51-57).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Engine crews and train crews (accounts XX-51-56 and XX-51-57). 1242.56 Section 1242.56 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Transportation § 1242.56 Engine crews and train crews (accounts XX-51-56 and...

  14. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

    PubMed

    Seeherunvong, Tossaporn; Ukarapong, Supamit; McElreavey, Kenneth; Berkovitz, Gary D; Perera, Erasmo M

    2012-01-01

    Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals. We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications. Duplication of the SOX9 region in 17q was not detected in any subject. Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.

  15. Long survival in a 69,XXX triploid infant in Greece.

    PubMed

    Iliopoulos, Dimitrios; Vassiliou, Georgia; Sekerli, Eleni; Sidiropoulou, Vasiliki; Tsiga, Alexandra; Dimopoulou, Despina; Voyiatzis, Nikolaos

    2005-12-30

    The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with no evidence of mosaicism. This is the longest survival reported for this condition to date in Greece and the fourth longest worldwide. The infant was admitted to our clinic several times due to respiratory problems, and supplementary oxygen was required. The improved survival of our case was possibly due to better management of respiratory illness and prematurity, and these are essential factors that physicians should consider carefully with such rare cases.

  16. Expression of VEGF(xxx)b, the inhibitory isoforms of VEGF, in malignant melanoma.

    PubMed

    Pritchard-Jones, R O; Dunn, D B A; Qiu, Y; Varey, A H R; Orlando, A; Rigby, H; Harper, S J; Bates, D O

    2007-07-16

    Malignant melanoma is the most lethal of the skin cancers and the UK incidence is rising faster than that of any other cancer. Angiogenesis - the growth of new vessels from preexisting vasculature - is an absolute requirement for tumour survival and progression beyond a few hundred microns in diameter. We previously described a class of anti-angiogenic isoforms of VEGF, VEGF(xxx)b, that inhibit tumour growth in animal models, and are downregulated in some cancers, but have not been investigated in melanoma. To determine whether VEGF(xxx)b expression was altered in melanoma, PCR and immunohistochemistry of archived human tumour samples were used. In normal epidermis and in a proportion of melanoma samples, VEGF(xxx)b staining was seen. Some melanomas had much weaker staining. Subsequent examination revealed that expression was significantly reduced in primary melanoma samples (both horizontal and vertical growth phases) from patients who subsequently developed tumour metastasis compared with those who did not (analysis of variance (ANOVA) P<0.001 metastatic vs nonmetastatic), irrespective of tumour thickness, while the surrounding epidermis showed no difference in expression. Staining for total VEGF expression showed staining in metastatic and nonmetastatic melanomas, and normal epidermis. An absence of VEGF(xxx)b expression appears to predict metastatic spread in patients with primary melanoma. These results suggest that there is a switch in splicing as part of the metastatic process, from anti-angiogenic to pro-angiogenic VEGF isoforms. This may form part of a wider metastatic splicing phenotype.

  17. Spontaneous pregnancy in a woman with 45,X/47,XXX mosaicism in both serum and germ cell lines. A case report.

    PubMed

    Eblen, Abby C; Nakajima, Steve T

    2003-02-01

    This is the first published case report of pregnancy in a women with 45, X/47, XXX mosaicism in both blood and germ cell lines. The patient conceived, and analysis of ovarian tissue confirmed a karyotype of 45, X/47, XXX. Women with a 45, X/47, XXX karyotype in the germ cell line can conceive, as this case demonstrates.

  18. Root length in the permanent teeth of women with an additional X chromosome (47,XXX females).

    PubMed

    Lähdesmäki, Raija E; Alvesalo, Lassi J

    2010-07-01

    Previous studies have demonstrated differential effects of the X and Y chromosomes on dental development. The expression of sexual dimorphism in terms of tooth size, shape, number and developmental timing has been explained especially by Y chromosome influence. The Y chromosome promotes enamel, crown and root dentin development. The X chromosome has an effect on enamel deposition. The aim of this research is to study the influence of the extra X chromosome on the development of permanent tooth root length. The study subjects (all of whom were from the Kvantti Dental Research Project) were seven 47,XXX females, five female relatives and 51 and 52 population control men and women, respectively. Measurements were made from panoramic radiographs on available permanent teeth by a digital calliper according to established procedures. The results showed that the maxillary root lengths of the 47,XXX females were of the same magnitude as those in normal women, but the mandibular root lengths were longer in 47,XXX females than in normal men or women. Increased enamel thickness in the teeth of 47,XXX females is apparently caused by the active enamel gene in all X chromosomes having no increased influence on crown dentin formation. These results in 47,XXX females indicate an increase in root dentin development, at least in the mandible, which together with the data on crown formation reflects a continuous long-lasting effect of the X chromosome on dental development.

  19. Federal Logistics Information System (FLIS). Volume 18. Automated Mailing Labels System (AMLS) FLIS Procedures Manual

    DTIC Science & Technology

    1993-07-01

    LPLPW3t TIME XXXX\\ LISI ADDRESSES AND DISIRIBUTION FOR XX XXXXXXXXXXXXXXXXXX\\ LSER ID XXX P %G[ ZZ.zz9 AA MLG MAILING ADDRESS ZIP CODE PI C x XNXX XX...4100.39-M Volume Is APPENDIX C AMLS INFORMATIONAL MESSAGES Corrective Action: Press the F6 ( COM MIT) function key to add the Distribution information

  20. Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47,XXX.

    PubMed

    Harmon, R J; Bender, B G; Linden, M G; Robinson, A

    1998-03-01

    To investigate the adolescent and early adult adaptation of a group of 47,XXX women as compared with their siblings, addressing developmental differences in adaptation and psychiatric status. Subjects included eleven 47,XXX women and nine female sibling controls. Interviews during adolescence and during early adulthood were semistructured and included a psychiatric evaluation. Four areas of inquiry were (1) relationships with other family members, (2) sense of self-esteem, (3) sexual identity and preference, and (4) responses to life stressors. A DSM-IV psychiatric diagnosis was assigned where appropriate. The Schedule for Affective Disorders and Schizophrenia-Lifetime version was also administered, and assessments of overall functioning and adaptation were completed. The 47,XXX women during adolescence and young adulthood were less well adapted; had more stress; had more work, leisure, and relationship problems; had a lower IQ; and showed more psychopathology when contrasted with the comparison group. However, most of the 47,XXX women were self-sufficient and functioning reasonably well, albeit less well than their siblings. This longitudinal study has clarified that previously reported outcomes of severe psychopathology and antisocial behavior in individuals with sex chromosome anomalies are rare and variability in the behavioral phenotype is much larger than originally appreciated.

  1. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

    PubMed

    Lim, Han Hyuk; Kil, Hong Ryang; Koo, Sun Hoe

    2017-05-09

    Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (<0.5%) for TS with 45,X monosomy. Among TS patients, 45,X/47,XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57-67%), and fertility (14%) and lower occurrence of congenital anomalies (<5%). However, TS mosaicism may not reduce the frequency of short stature. We diagnosed a 10-year-girl with TS with 45,X/47,XXX mosaicism who presented with short stature. She showed mild TS phenotype including short stature but had spontaneous puberty. Based on our case and previous reports, we expect that girls with 45,X/47,XXX mosaicism may progress through puberty normally, without estrogen therapy. Therefore, it is necessary to consider specific guidelines for clinical decisions surrounding pubertal development and fertility in TS with 45,X/47,XXX karyotype. © 2017 Wiley Periodicals, Inc.

  2. 49 CFR 1242.77 - Administration (account XX-55-01).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-55-01). 1242.77 Section...-Transportation § 1242.77 Administration (account XX-55-01). Separate common expenses in the same proportion as... systems operations and loss and damage claims processing (accounts XX-55-76, XX-55-77 and XX-55-78). ...

  3. 49 CFR 1242.49 - Equipment damaged (account XX-27-48).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Equipment damaged (account XX-27-48). 1242.49...-Equipment § 1242.49 Equipment damaged (account XX-27-48). Separate common expenses according to distribution... equipment and work and other non-revenue equipment accounts (accounts XX-27-40, XX-27-45, XX-27-46, and XX...

  4. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.

    PubMed

    Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G; Linden, Mary G; Eliez, Stephan; Reiss, Allan L

    2002-01-08

    The excess of 47,XXX and 47,XXY karyotypes found in cytogenetic screening studies of individuals with schizophrenia has given support for an increased risk of psychiatric illness among men and women with sex chromosomal aneuploidy (SCA). Mesial temporal lobe structures, including the amygdala and hippocampus, are thought to be associated with abnormalities of mood and behavior in humans and in the neurobiology of schizophrenia. This study focuses on variations in volumes of mesial temporal lobe structures in men and women with SCA. Utilizing an unselected birth cohort of subjects with SCA and high-resolution magnetic resonance imaging (MRI), we investigated the neuroanatomical consequences of a supernumerary X chromosome on the morphology of the amygdala and hippocampus. Regional and total brain volumes were measured in 10 subjects with 47,XXY, 10 subjects with 47,XXX, and 20 euploid controls. Amygdala volumes were significantly reduced in men with 47,XXY, compared to control men, while the decrease in women with 47,XXX was not as pronounced. Hippocampus volumes were preserved in both groups, compared to same-gender controls. Longitudinal studies of SCA individuals have shown an increased incidence of mild psychopathology and behavioral dysfunction in men with 47,XXY and more overt psychiatric illness in women with 47,XXX, compared to control populations. The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings. Copyright 2001 Wiley-Liss, Inc.

  5. 47,XXX in an adolescent with premature ovarian failure and autoimmune disease.

    PubMed

    Holland, C M

    2001-05-01

    Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. The 47,XXX karyotype has been associated with POF and other genitourinary anomalies. A 17-year-old woman with a history of immune thrombocytopenic purpura was referred to the adolescent medicine clinic for evaluation of oligomenorrhea with secondary amenorrhea. Evaluation revealed hypergonadotrophic premature ovarian failure, a positive antinuclear antibody, and the 47,XXX karyotype. She has since developed a positive anti-cardiolipin antibody but does not meet diagnostic criteria for systemic lupus erythematosis. The presence of known autoimmune disease in a woman with POF should not dissuade the clinician from evaluating for a potential genetic cause.

  6. A review of trisomy X (47,XXX).

    PubMed

    Tartaglia, Nicole R; Howell, Susan; Sutherland, Ashley; Wilson, Rebecca; Wilson, Lennie

    2010-05-11

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a

  7. A review of trisomy X (47,XXX)

    PubMed Central

    2010-01-01

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a

  8. Galanin: A Role in Mesolimbic Dopamine-Mediated Instrumental Behavior?

    PubMed Central

    Robinson, John K.; Brewer, Ariel

    2008-01-01

    ROBINSON, J.K. and Brewer, A. Galanin: A Role in Mesolimbic-Dopamine Mediated Instrumental Behavior? NEUROSCI BIOBEHAV REV XX(X) XXX-XXX, 2008. The involvement of the neuropeptide galanin in the consumption of the primary “commodities” of food and water is well established. However, the present review describes anatomical and behavioral evidence that suggests that galanin may also modulate ascending mesolimbic dopamine function and thereby play an inhibitory role in the systems by which instrumental behavior is energized toward acquiring primary commodities. General anatomical frameworks for this interaction are presented and future studies that could evaluate it are discussed. PMID:18632153

  9. Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX.

    PubMed

    Townsend, Janice A; Lacour, Letitia; Scheuerle, Angela E

    2017-01-15

    The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.

  10. Joint Oil Analysis Program Spectrometer Standards SCP Science (Conostan) Qualification Report for D19-0, D3-100, and D12-XXX Series Standards

    DTIC Science & Technology

    2015-05-20

    Joint Oil Analysis Program Spectrometer Standards SCP Science (Conostan) Qualification Report For D19-0, D3-100, and D12- XXX Series Standards NF...Candidate Type D19-0 ICP-AES Results ..................................................................... 4 Table V. Candidate Type D12- XXX ...Physical Property Results .................................................. 5 Table VI. Candidate Type D12- XXX Rotrode-AES Results

  11. 49 CFR 1242.34 - Administration (account XX-26-01).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-26-01). 1242.34 Section...-Equipment § 1242.34 Administration (account XX-26-01). Separate common expenses according to distribution of common expenses in the following accounts: Repair and Maintenance (XX-26-41) Machinery Repair (XX-26-40...

  12. 49 CFR 1242.12 - Administration-signals (account XX-19-04).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-signals (account XX-19-04). 1242.12... Structures § 1242.12 Administration—signals (account XX-19-04). Separate common administration—signals... (XX-17-19) Switching (XX-18-19) ...

  13. Galectin-1-asialofetuin interaction is inhibited by peptides containing the tyr-xxx-tyr motif acting on the glycoprotein.

    PubMed

    Wéber, Edit; Hetényi, Anasztázia; Váczi, Balázs; Szolnoki, Eva; Fajka-Boja, Roberta; Tubak, Vilmos; Monostori, Eva; Martinek, Tamás A

    2010-01-25

    Galectin-1 (Gal-1), a ubiquitous beta-galactoside-binding protein expressed by various normal and pathological tissues, has been implicated in cancer and autoimmune/inflammatory diseases in consequence of its regulatory role in adhesion, cell viability, proliferation, and angiogenesis. The functions of Gal-1 depend on its affinity for beta-galactoside-containing glycoconjugates; accordingly, the inhibition of sugar binding blocks its functions, hence promising potential therapeutic tools. The Tyr-Xxx-Tyr peptide motifs have been reported to be glycomimetic sequences, mainly on the basis of their inhibitory effect on the Gal-1-asialofetuin (ASF) interaction. However, the results regarding the efficacy of the Tyr-Xxx-Tyr motif as a glycomimetic inhibitor are still controversial. The present STD and trNOE NMR experiments reveal that the Tyr-Xxx-Tyr peptides studied do not bind to Gal-1, whereas their binding to ASF is clearly detected. (15)N,(1)H HSQC titrations with (15)N-labeled Gal-1 confirm the absence of any peptide-Gal-1 interaction. These data indicate that the Tyr-Xxx-Tyr peptides tested in this work are not glycomimetics as they interact with ASF via an unrevealed molecular linkage.

  14. Using Title XX to Serve Children and Youth.

    ERIC Educational Resources Information Center

    Twiname, John D.; And Others

    With the passage in early 1975 of the social service amendments to the Social Security Act, referred to as Title XX, a major new opportunity to serve children and youth has emerged. Seizing the opportunity will be largely dependent on the well-prepared presentation of a case for the needs of young people by dedicated advocates in every state.…

  15. Roadmap Through Title XX. Financing Services for Children Through Title XX and Other Programs: Manual 5.

    ERIC Educational Resources Information Center

    Copeland, William C.; Iversen, Iver A.

    This manual, part of a Hecht Institute four-manual series entitled Financing Children's Services Through Title XX and Related Programs, teaches what Title XX regulations are, what they mean, and what actions and procedures are commanded by them. The first section covers the necessity of rule systems, the characteristics of a good rule system and…

  16. An Analysis of the Materiel Fielding Plan for the SINCGARS (Single Channel Ground and Airborne Radio System) Radio.

    DTIC Science & Technology

    1984-12-01

    34 sexy " topic. It is easy to see why personnel involved in the fielding for SINCGARS would not be interested in this area. However, the impact of a poor...1986 1987 1988 1989 1990 TRADOC XXXXXX FT. HOOD XXXXXXXXXXX KOREA XXXXXXX USAREUR XXXXXXXXwwwww? IIIIIIIII KEY: SINCGARS Fielded XXX IFTE Fielded III...Dou Circuiar--N-./UU- XXX . 10. U.S Department of Defense, Instructions for Materiel Fielding/Transfer, DoD Pamphl et 700-xx (Dra-t). 11. U.S

  17. 49 CFR 1242.18 - Communication systems (account XX-19-20).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems (account XX-19-20). 1242.18... Structures § 1242.18 Communication systems (account XX-19-20). Separate common expenses on the basis of the... (accounts XX-19-02 to XX-19-04, inclusive) Equipment—Administration—Locomotives and Other Equipment...

  18. Intergranular corrosion in AA5XXX aluminum alloys with discontinuous precipitation at the grain boundaries

    NASA Astrophysics Data System (ADS)

    Bumiller, Elissa

    The US Navy currently uses AA5xxx aluminum alloys for structures exposed to a marine environment. These alloys demonstrate excellent corrosion resistance over other aluminum alloys (e.g., AA2xxx or AA7xxx) in this environment, filling a niche in the marine structures market when requiring a light-weight alternative to steel. However, these alloys are susceptible to localized corrosion; more specifically, intergranular corrosion (IGC) is of concern. IGC of AA5xxx alloys due to the precipitation of beta phase on the grain boundaries is a well-established phenomenon referred to as sensitization. At high degrees of sensitization, the IGC path is a continuous anodic path of beta phase particles. At lower degrees of sensitization, the beta phase coverage at the grain boundaries is not continuous. The traditional ranges of susceptibility to IGC as defined by ASTM B928 are in question due to recent studies. These studies showed that even at mid range degrees of sensitization where the beta phase is no longer continuous, IGC may still occur. Previous thoughts on IGC of these alloy systems were founded on the idea that once the grain boundary precipitate became discontinuous the susceptibility to IGC was greatly reduced. Additionally, IGC susceptibility has been defined metallurgically by compositional gradients at the grain boundaries. However, AA5xxx alloys show no compositional gradients at the grain boundaries, yet are still susceptible to IGC. The goal of this work is to establish criteria necessary for IGC to occur given no continuous beta phase path and no compositional gradient at the grain boundaries. IGC performance of the bulk alloy system AA5083 has been studied along with the primary phases present in the IGC system: alpha and beta phases using electrochemistry and modeling as the primary tools. Numerical modeling supports that at steady-state the fissure tip is likely saturated with Mg in excess of the 4% dissolved in the matrix. By combining these results

  19. Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18.

    PubMed

    Chen, C P; Chern, S R; Yeh, L F; Chen, W L; Chen, L F; Wang, W

    2000-09-01

    Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two non-disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound. Copyright 2000 John Wiley & Sons, Ltd.

  20. 49 CFR 1242.47 - Machinery (account XX-27-40).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Machinery (account XX-27-40). 1242.47 Section 1242...-Equipment § 1242.47 Machinery (account XX-27-40). Separate common expenses on the basis of the freight/passenger separation of administration (account XX-27-01). ...

  1. PREFACE: XXX International Conference on Interaction of Intense Energy Fluxes with Matter

    NASA Astrophysics Data System (ADS)

    Fortov, V. E.; Khishchenko, K. V.; Karamurzov, B. S.; Efremov, V. P.; Sultanov, V. G.

    2015-11-01

    This paper is a preface to the proceedings of the XXX International Conference on Interaction of Intense Energy Fluxes with Matter, which was held in Elbrus settlement, in the Kabardino-Balkar Republic of the Russian Federation, from March 1-6, 2015.

  2. Turner syndrome and 45,X/47,XXX mosaicism.

    PubMed

    Akbas, E; Mutluhan, H; Savasoglu, K; Soylemez, F; Ozturk, I; Yazici, G

    2009-01-01

    The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.

  3. 49 CFR 1242.43 - Administration (account XX-27-01).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-27-01). 1242.43 Section...-Equipment § 1242.43 Administration (account XX-27-01). Separate common expenses according to freight/passenger separation of the following accounts: Passenger and Other Revenue Equipment (XX-27-45) Work and...

  4. 3-D Imagery Cockpit Display Development

    DTIC Science & Technology

    1990-08-01

    and ownship appeared in the lower right corner of the CLF, in the form XXX NM. The third data line showed individual aircraft altitude in the form XX K...data line showed aircraft heading in the form XXX ° . 4.2.5.3 Close-Look Format Options The Close-Look Format option switches are shown in Figure 4.2...vector, it is Need for declutter levels, redundant. Need range readout. Needs basic altitude reference. Low altitude warning system with sexy female

  5. Conditioned taste aversion, drugs of abuse and palatability

    PubMed Central

    Lin, Jian-You; Arthurs, Joe; Reilly, Steve

    2014-01-01

    LIN, J.-Y., J. Arthurs and S. Reilly. Conditioned taste aversion: Palatability and drugs of abuse. NEUROSCI BIOBEHAV REV XX(x) XXX-XXX, 2014. – We consider conditioned taste aversion to involve a learned reduction in the palatability of a taste (and hence in amount consumed) based on the association that develops when a taste experience is followed by gastrointestinal malaise. The present article evaluates the well-established finding that drugs of abuse, at doses that are otherwise considered rewarding and self-administered, cause intake suppression. Our recent work using lick pattern analysis shows that drugs of abuse also cause a palatability downshift and, therefore, support conditioned taste aversion learning. PMID:24813806

  6. Inherited XX sex reversal originating from wild medaka populations.

    PubMed

    Shinomiya, A; Otake, H; Hamaguchi, S; Sakaizumi, M

    2010-11-01

    The teleost fish, medaka (Oryzias latipes), has an XX/XY sex-determining mechanism. A Y-linked DM domain gene, DMY, has been isolated by positional cloning as the sex-determining gene in this species. Previously, we conducted a field survey of genotypic sex and found that approximately 1% of wild medaka are sex-reversed (XX males and XY females). Here, we performed genetic analyses of nine spontaneous XX sex-reversed males to elucidate its genetic basis. In all cases, the F(1) progeny were all females, whereas XX males reappeared in the backcross (BC) progeny, suggesting that XX sex reversal is a recessive trait. Although the incidences of sex reversal in the BC progeny were mostly low, 40% were males derived from one XX male. We performed linkage analysis using 55 BC males and located a single major factor, sda-1 (sex-determining autosomal factor-1), controlling sex reversal in an autosomal linkage group. Thus, genes involved in the sex-determining pathway can be isolated from spontaneous mutants in wild populations.

  7. Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.

    PubMed

    Oktem, Ozgur; Paduch, Darius A; Xu, Kangpu; Mielnik, Anna; Oktay, Kutluk

    2007-03-01

    Diploid/triploid mosaicism (mixoploidy) is a rare chromosomal abnormality characterized by mental and growth retardation, hypotonia, and dysmorphic features such as facial asymmetry, low-set ears, and syndactyly. All 46,XX/69,XXY cases fall into three phenotypic groups: male with testicular development, ovotestis disorder of sex development (DSD), or undervirilized male DSD. All phenotypic females with diploid/triploid mosaic reported so far had 46,XX/69,XXX karyotype. We report an 8-year-old girl conceived after in vitro fertilization-intracytoplasmic sperm injection with normal internal/external genital and ovarian development despite 46,XX/69,XXY mosaicism and normal expression of sex-determining region of Y chromosome (SRY) in her gonads. Because of the increased risk of gonadoblastoma resulting from Y chromosome mosaicism, her ovaries were removed by laparoscopy. Ovarian tissue was analyzed histologically as well as by fluorescence in situ hybridization, PCR, and RT-PCR amplification to determine the localization of Y chromosome and expression of SRY and DAX1 mRNA. Methylation-specific PCR was used to assess the inactivation pattern of X chromosomes. By laparoscopy, internal female genital anatomy appeared to be normal. Cytogenetic and molecular methods confirmed the presence of intact and functionally active Y chromosome in the ovary. Strikingly, histological assessment of the gonads showed normal ovarian architecture with abundant primordial follicles despite the presence of the Y chromosome in ovarian follicles and the expression of SRY mRNA in gonadal tissue. This case illustrates that normal ovarian development is possible in the presence of Y chromosome in ovarian follicles and despite the expression of SRY in ovarian tissue. Furthermore, this is the first documented case of mixoploidy after in vitro fertilization-intracytoplasmic sperm injection and the only phenotypic female with 46,XX/69,XXY karyotype.

  8. The reddening and variability of XX Ophiuchi

    NASA Technical Reports Server (NTRS)

    Evans, A.; Albinson, J. S.; Barrett, P.; Davies, J. K.; Goldsmith, M. J.; Hutchinson, M. G.; Maddison, R. C.

    1993-01-01

    We present polarization data on the XX Oph system which suggest that the interstellar extinction to this object has been overestimated in the past: our data imply A(V) = 1.6 mag. Our photometry and infrared spectroscopy suggest a spectral class of M7III for the late component, and a BOV companion that ionizes the wind of the cool component. XX Oph seems more like a Zeta Aur/VV Cep system than a 'symbiotic object'. The photometric variability of XX Oph seems to have a number of causes, ranging from shell-type variability in the U band to variations in the M component in the infrared.

  9. Fatigue Resistance of Al-Cu-Li and Comparison with 7xxx Aerospace Alloys

    NASA Astrophysics Data System (ADS)

    Daniélou, A.; Ronxin, J. P.; Nardin, C.; Ehrström, J. C.

    Al-Cu-Li alloys are of great interest for aerospace applications due to their good mechanical property balance, excellent corrosion resistance and reduced density. These alloys exhibit an increased resistance to fatigue in particular when compared to 7xxx alloys.

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    PubMed

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  11. 49 CFR 1242.14 - Administration-other (account XX-19-06).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-other (account XX-19-06). 1242.14... Structures § 1242.14 Administration—other (account XX-19-06). Separate common administration—other expenses... accounts are separated between freight and passenger services: Administration: Track (XX-19-02) Bridges and...

  12. Management of sacroiliac joint disruption and degenerative sacroiliitis with nonoperative care is medical resource-intensive and costly in a United States commercial payer population

    PubMed Central

    Ackerman, Stacey J; Polly, David W; Knight, Tyler; Holt, Tim; Cummings, John

    2014-01-01

    Introduction Low back pain is common and originates in the sacroiliac (SI) joint in 15%–30% of cases. Traditional SI joint disruption/degenerative sacroiliitis treatments include nonoperative care or open SI joint fusion. To evaluate the usefulness of newly developed minimally-invasive technologies, the costs of traditional treatments must be better understood. We assessed the costs of nonoperative care for SI joint disruption to commercial payers in the United States (US). Methods A retrospective study of claim-level medical resource use and associated costs used the MarketScan® Commercial Claims and Encounters as well as Medicare Supplemental Databases of Truven Healthcare. Patients with a primary ICD-9-CM diagnosis code for SI joint disruption (720.2, 724.6, 739.4, 846.9, or 847.3), an initial date of diagnosis from January 1, 2005 to December 31, 2007 (index date), and continuous enrollment for ≥1 year before and 3 years after the index date were included. Claims attributable to SI joint disruption with a primary or secondary ICD-9-CM diagnosis code of 71x.xx, 72x.xx, 73x.xx, or 84x.xx were identified; the 3-year medical resource use-associated reimbursement and outpatient pain medication costs (measured in 2011 US dollars) were tabulated across practice settings. A subgroup analysis was performed among patients with lumbar spinal fusion. Results The mean 3-year direct, attributable medical costs were $16,196 (standard deviation [SD] $28,592) per privately-insured patient (N=78,533). Among patients with lumbar spinal fusion (N=434), attributable 3-year mean costs were $91,720 (SD $75,502) per patient compared to $15,776 (SD $27,542) per patient among patients without lumbar spinal fusion (N=78,099). Overall, inpatient hospitalizations (19.4%), hospital outpatient visits and procedures (14.0%), and outpatient pain medications (9.6%) accounted for the largest proportion of costs. The estimated 3-year insurance payments attributable to SI joint disruption

  13. Generation of integration-free induced pluripotent stem cells (GZHMUi001-A) by reprogramming peripheral blood mononuclear cells from a 47, XXX syndrome patient.

    PubMed

    Chen, Yuchang; Ou, Zhanhui; Song, Bing; Xian, Yexing; Ouyang, Shuming; Xie, Yuhuan; Xue, Yanting; Sun, Xiaofang

    2017-08-01

    47, XXX syndrome is one of several sex-chromosomal aneuploidies, and it has an incidence of approximately 1/1000 in newborn females. Because of heterogeneity in X-inactivation, these patients may exhibit a variety of clinical symptoms. Here, we report the generation of an integration-free human induced pluripotent stem cell line (GZHMUi001-A) by using Sendai virus to reprogram peripheral blood mononuclear cells from a 47, XXX syndrome patient with premature ovarian failure. This 47, XXX iPS cell line has characteristics of pluripotent stem cells and is a useful tool for the investigation of this X chromosome aneuploid disease. Copyright © 2017. Published by Elsevier B.V.

  14. 49 CFR 1242.13 - Administration-communica- tions (account XX-19-05).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-communica- tions (account XX-19-05... Structures § 1242.13 Administration—communica- tions (account XX-19-05). Separate common administration... (XX-19-20) ...

  15. 49 CFR 1242.25 - Locomotive servicing facilities (account XX-19-27).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and...) Electric Power Purchased or Produced for Motive Power (XX-51-68 and XX-52-68) Servicing Locomotives (XX-51...

  16. Exact solution of the XXX Gaudin model with generic open boundaries

    NASA Astrophysics Data System (ADS)

    Hao, Kun; Cao, Junpeng; Yang, Tao; Yang, Wen-Li

    2015-03-01

    The XXX Gaudin model with generic integrable open boundaries specified by the most general non-diagonal reflecting matrices is studied. Besides the inhomogeneous parameters, the associated Gaudin operators have six free parameters which break the U(1) -symmetry. With the help of the off-diagonal Bethe ansatz, we successfully obtained the eigenvalues of these Gaudin operators and the corresponding Bethe ansatz equations.

  17. 49 CFR 1242.16 - Road property damaged-other (account XX-19-48).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Road property damaged-other (account XX-19-48... Structures § 1242.16 Road property damaged—other (account XX-19-48). Separate common expenses in proportion... accounts: Road Property Damaged—Running (XX-17-48) Road Property Damaged—Switching (XX-18-48) ...

  18. 49 CFR 1242.66 - Administration (account XX-52-01).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Locomotive Fuel (XX-52-67) Servicing Locomotives (XX-52-69) Electric Power Purchased/Produced for Motive...

  19. 49 CFR 1242.55 - Administration (account XX-51-01).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Electric Power Purchased/Produced for Motive Power (XX-51-68) Servicing Locomotives (XX-51-69) Clearing...

  20. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    PubMed

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  1. Identity Activities

    DTIC Science & Technology

    2016-08-03

    individual or organization knows or says about another individual         Core personal Addresses Employment Educational Military Service...rhythm; handwriting ; type/keyboard pattern; posture/bearing; gait/limp; gestures). Appendix D D-8 JDN X-XX (3) Financial Transactions. Any

  2. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report

    PubMed Central

    2011-01-01

    Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. PMID:22054059

  3. Weak Solution Classes for Parabolic Integro-Differential Equations

    DTIC Science & Technology

    1982-09-01

    different existence argument for solutions of (I). It is partly based on a method that was used in (2) and (6] to treat a Hilbert - space version of (I) and...xx Differential Equations 35 (1980), 200-231. 121 V. Barbut Integro-Oifferential Squatton. in Hilbert Spaces. Ann. St. Univ. *Al. 1. Cuaxa 19 (1973... Greenberg : O,% the Existence, Uniqueness, and stability of the Equation 00 Xtt - 3(XX)X) AX *x . J Math. Anal. Appl. 25 (1969), S75-591. (131 7

  4. 49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-locomotives (account XX-19-24... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to distribution of common expenses in the following accounts: Machinery Repair (XX-26-40) Locomotive—Repair and...

  5. 49 CFR 1242.79 - Communication systems operations (account XX-55-77).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems operations (account XX-55-77...-Transportation § 1242.79 Communication systems operations (account XX-55-77). Separate common expenses on bases of the percentages calculated for the separation of Communication Systems (account XX-19-20), § 1242...

  6. Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

    PubMed Central

    Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

    1977-01-01

    Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

  7. Registration of conventional soybean germplasm JTN-4307 with resistance to nematodes and fungal diseases

    USDA-ARS?s Scientific Manuscript database

    JTN-4307 soybean [Glycine max (L.) Merr.] (Reg. No. XX-XXX, PI 670017) was developed by USDA-ARS in collaboration with the University of Missouri and the University of Tennessee, and released in 2013, for its broad resistance to soybean cyst nematode (Heterodera glycines Ichinohe), reniform nematode...

  8. Registration of JTN-5203 soybean germplasm with resistance to multiple cyst nematode populations

    USDA-ARS?s Scientific Manuscript database

    JTN-5203 soybean [Glycine max (L.) Merr.] (Reg. No. XX-XXX, PI 664903) was developed and released by USDA-ARS in collaboration with the University of Tennessee in 2012 for its broad resistance to soybean cyst nematode (SCN; Heterodera glycines Ichinohe), as well as reniform nematode (Rotylenchulus ...

  9. 49 CFR 1242.28 - Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38...

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38, inclusive). 1242.28 Section 1242.28 Transportation Other... PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.28 Roadway machines, small...

  10. Genetics of dioecy and causal sex chromosomes in plants.

    PubMed

    Kumar, Sushil; Kumari, Renu; Sharma, Vishakha

    2014-04-01

    Dioecy (separate male and female individuals) ensures outcrossing and is more prevalent in animals than in plants. Although it is common in bryophytes and gymnosperms, only 5% of angiosperms are dioecious. In dioecious higher plants, flowers borne on male and female individuals are, respectively deficient in functional gynoecium and androecium. Dioecy is inherited via three sex chromosome systems: XX/XY, XX/X0 and WZ/ZZ, such that XX or WZ is female and XY, X0 or ZZ are males. The XX/XY system generates the rarer XX/X0 and WZ/ZZ systems. An autosome pair begets XY chromosomes. A recessive loss-of-androecium mutation (ana) creates X chromosome and a dominant gynoecium-suppressing (GYS) mutation creates Y chromosome. The ana/ANA and gys/GYS loci are in the sex-determining region (SDR) of the XY pair. Accumulation of inversions, deleterious mutations and repeat elements, especially transposons, in the SDR of Y suppresses recombination between X and Y in SDR, making Y labile and increasingly degenerate and heteromorphic from X. Continued recombination between X and Y in their pseudoautosomal region located at the ends of chromosomal arms allows survival of the degenerated Y and of the species. Dioecy is presumably a component of the evolutionary cycle for the origin of new species. Inbred hermaphrodite species assume dioecy. Later they suffer degenerate-Y-led population regression. Cross-hybridization between such extinguishing species and heterologous species, followed by genome duplication of segregants from hybrids, give rise to new species.

  11. Magnetic and magnetocaloric properties of Gd2In0.8X0.2 compounds (X=Al, Ga, Sn, Pb)

    NASA Astrophysics Data System (ADS)

    Tencé, Sophie; Chevalier, Bernard

    2016-02-01

    We show that it is possible to replace in Gd2In some amount of In by X=Al, Ga, Sn and Pb to obtain Gd2In1-xXx samples after melting. The magnetic and magnetocaloric properties of the Gd2In0.8X0.2 intermetallic compounds have been investigated through dc magnetization measurements. We evidence that the substitution of Al and Ga for In barely changes the Curie temperature TC but decreases the second magnetic transition temperature T‧ which corresponds to the transition from a ferromagnetic to an antiferromagnetic state. On the other hand, the substitution of Sn and Pb for In strongly increases TC and changes the nature or even suppresses the transition at lower temperature. This magnetic behavior gives rise to an interesting way to tune the Curie temperature near room temperature without diluting the Gd network and thus to modify the magnetocaloric effect in Gd2In1-xXx compounds.

  12. Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells.

    PubMed

    Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-Ichirou

    2017-02-02

    SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells.

  13. Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells

    PubMed Central

    Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-ichirou

    2017-01-01

    SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells. PMID:28150810

  14. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.

    PubMed

    Sharma, Rohan; Harris, Valerie M; Cavett, Joshua; Kurien, Biji T; Liu, Ke; Koelsch, Kristi A; Fayaaz, Anum; Chaudhari, Kaustubh S; Radfar, Lida; Lewis, David; Stone, Donald U; Kaufman, C Erick; Li, Shibo; Segal, Barbara; Wallace, Daniel J; Weisman, Michael H; Venuturupalli, Swamy; Kelly, Jennifer A; Pons-Estel, Bernardo; Jonsson, Roland; Lu, Xianglan; Gottenberg, Jacques-Eric; Anaya, Juan-Manuel; Cunninghame-Graham, Deborah S; Huang, Andrew J W; Brennan, Michael T; Hughes, Pamela; Alevizos, Ilias; Miceli-Richard, Corinne; Keystone, Edward C; Bykerk, Vivian P; Hirschfield, Gideon; Nordmark, Gunnel; Bucher, Sara Magnusson; Eriksson, Per; Omdal, Roald; Rhodus, Nelson L; Rischmueller, Maureen; Rohrer, Michael; Wahren-Herlenius, Marie; Witte, Torsten; Alarcón-Riquelme, Marta; Mariette, Xavier; Lessard, Christopher J; Harley, John B; Ng, Wan-Fai; Rasmussen, Astrid; Sivils, Kathy L; Scofield, R Hal

    2017-11-01

    Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. Among ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000-50,000 live female births, while partial triplications are even rarer. Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. © 2017, American College of Rheumatology.

  15. XX males SRY negative: a confirmed cause of infertility.

    PubMed

    Vetro, Annalisa; Ciccone, Roberto; Giorda, Roberto; Patricelli, Maria Grazia; Della Mina, Erika; Forlino, Antonella; Zuffardi, Orsetta

    2011-10-01

    SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely normal and fertile whereas the 46,XX ones were males who came to clinical attention because of infertility. We report a family with two azoospermic brothers, both 46,XX, SRY negative, having a 96 kb triplication 500 kb upstream of SOX9. Both subjects have been analyzed trough oligonucleotide array-CGH and the triplication was confirmed and characterised through qPCR, defining the minimal region of amplification upstream of SOX9 associated with 46,XX infertile males, SRY negative. Our results confirm that even in absence of SRY, complete male differentiation may occur, possibly driven by overexpression of SOX9 in the gonadal ridge, as a consequence of the amplification of a gene desert region. We hypothesize that this region contains gonadal specific long-range regulation elements whose alteration may impair the normal sex development. Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.

  16. Title XX and CETA. A Coordination Guide for Title XX Administrators.

    ERIC Educational Resources Information Center

    Urban Management Consultants of San Francisco, Inc., CA.

    Written for the social service (Title XX) administrator at the State or sub-State level, this guide is intended to serve four major purposes: (1) Provide selected insights into what the Comprehensive Employment and Training Act (CETA) is and how it works; (2) point out potential areas for coordination which, from study or field experience, hold…

  17. 78 FR 15406 - Proposed Collection; Comment Request for Revenue Procedure 2013-XX

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-11

    ... Revenue Procedure 2013- XX AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice and request... comments concerning Revenue Procedure 2013-XX, Disaster Relief. DATES: Written comments should be received... . SUPPLEMENTARY INFORMATION: Title: Disaster Relief. OMB Number: 1545-2237. Form Number: Rev. Proc. 2013-XX...

  18. Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

    PubMed

    Poplinski, Andreas; Wieacker, Peter; Kliesch, Sabine; Gromoll, Jörg

    2010-01-01

    46,XX-maleness affects 1 in 20 000 live male newborns resulting in infertility and hypergonadotrophic hypogonadism. Although the phenotypes of XX-males have been well described, the molecular nature of the X chromosomes remains elusive. We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome. Patient cohort consisted of ten sex-determining region of the Y (SRY+) XX-males, two (SRY-) XX-males, ten 47,XXY Klinefelter men, six 45,X Turner females and ten male and female control individuals each. Methylation analysis was carried out by bisulphite sequencing of DNA from peripheral blood lymphocytes analysing X-inactive-specific transcript (XIST), phosphoglycerate kinase 1 (PGK1), ferritin, heavy peptide-like 17 (FTHL17) and short stature homeobox (SHOX). XIST methylation was 18% in (SRY+) XX-males, and thus they were severely hypomethylated compared to (SRY-) XX-males (48%; P<0.01), Klinefelter men (44%; P<0.01) and female controls (47%; P<0.01). Turner females and male controls displayed a high degree of XIST methylation of 98 and 94% respectively. Methylation of PGK1, undergoing X inactivation, was not significantly reduced in (SRY+) XX-males compared to female controls in spite of severe XIST hypomethylation (51 vs 69%; P>0.05). FTHL17, escaping X inactivation, but undergoing cell-type-specific inactivation was similarly methylated in XX-males (89%), KS patients (87%) and female controls (90%). SHOX, an X inactivation escapee located in the pseudoautosomal region, displays similarly low degrees of methylation for XX-males (7%), KS patients (7%) and female controls (9%). XIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci.

  19. Potent μ-Opioid Receptor Agonists from Cyclic Peptides Tyr-c[D-Lys-Xxx-Tyr-Gly]: Synthesis, Biological, and Structural Evaluation.

    PubMed

    Li, Yangmei; Cazares, Margret; Wu, Jinhua; Houghten, Richard A; Toll, Laurence; Dooley, Colette

    2016-02-11

    To optimize the structure of a μ-opioid receptor ligand, analogs H-Tyr-c[D-Lys-Xxx-Tyr-Gly] were synthesized and their biological activity was tested. The analog containing a Phe(3) was identified as not only exhibiting binding affinity 14-fold higher than the original hit but also producing agonist activity 3-fold more potent than morphine. NMR study suggested that a trans conformation at D-Lys(2)-Xxx(3) is crucial for these cyclic peptides to maintain high affinity, selectivity, and functional activity toward the μ-opioid receptor.

  20. Polycrystal-Plasticity Simulation of Roping in AA 6xxx Automotive Sheet Alloys

    NASA Astrophysics Data System (ADS)

    Engler, O.; Schäfer, C.; Brinkman, H.-J.

    The occurrence of roping in AA 6xxx series sheet for car body applications is caused by the collective deformation of band-like clusters of grains with similar crystallographic orientation. In this study large-scale orientation maps obtained by electron back-scattered diffraction (EBSD) are input into a visco-plastic self-consistent polycrystal-plasticity model to analyze the strain anisotropy caused by the topographic arrangement of the recrystallization texture orientations and, in turn, the occurrence of roping. At variance to earlier studies, the measurements were carried out in the short transverse section of the sheets so as to get information on distribution and morphology of orientation clusters through the sheet thickness. Then, narrow bands in the EBSD maps aligned parallel to the ridges on the sheet surface are considered, and the variation in macroscopic strain response from band to band is determined. For a given deformation of the sample these simulations yield quantitative information on the level of roping of Al-alloy sheet for car body applications.

  1. 49 CFR 1242.26 - Miscellaneous building and structures (account XX-19-28).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Miscellaneous building and structures (account XX... XX-19-28). Separate common expenses as specific facts indicate or according to distribution of common expenses listed in § 1242.10, Administration-Track (account XX-19-02). ...

  2. Genetics Home Reference: 46,XX testicular disorder of sex development

    MedlinePlus

    ... of sex development 46,XX testicular disorder of sex development Printable PDF Open All Close All Enable ... collapse boxes. Description 46,XX testicular disorder of sex development is a condition in which individuals with ...

  3. Two males with SRY-positive 46,XX testicular disorder of sex development.

    PubMed

    Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

    2013-02-01

    The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

  4. 45,X/47,XXX Mosaicism and Short Stature.

    PubMed

    Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

    2015-01-01

    We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

  5. 45,X/47,XXX Mosaicism and Short Stature

    PubMed Central

    Tsilianidis, Laurie A.; Haider, Anzar; Rogers, Douglas G.; Schweiger, Bahareh

    2015-01-01

    We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. PMID:26137340

  6. Transient development of ovotestes in XX Sox9 transgenic mice.

    PubMed

    Gregoire, Elodie P; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R; Chaboissier, Marie-Christine

    2011-01-01

    The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9(Tg/+) gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads and is able to induce the expression of EGFP, knocked into the 3' UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX fetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. Transient development of ovotestes in XX Sox9 transgenic mice

    PubMed Central

    Gregoire, Elodie P.; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R.; Chaboissier, Marie-Christine

    2010-01-01

    The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice, induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9Tg/+ gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads, and is able to induce the expression of EGFP, knocked into the 3′ UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX foetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. PMID:20965161

  8. Investigation on local ductility of 6xxx-aluminium sheet alloys

    NASA Astrophysics Data System (ADS)

    Henn, P.; Liewald, M.; Sindel, M.

    2017-09-01

    Within the scope of this paper influence of localization of loading conditions on the ductility of two different 6xxx-aluminium sheet alloys is investigated. In order to improve the prediction of sheet material crash performance, material parameters based on uniaxial tensile and notched tensile tests are determined with varying consolidation areas. Especially evaluation methods based on the localized necking behaviour in tensile tests are investigated. The potential of local ductility characterisation is validated with results of Edge-Compression Tests (ECT) which applies load conditions that occur in actual crash events.

  9. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    PubMed

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

  10. Pocketguide to Title XX: Social Services to Children & Youth.

    ERIC Educational Resources Information Center

    Mueller, Candace

    This brief guide to Title XX contains the following chapter headings: (1) Historical Overview of the Social Services Program, (2) The Provisions of Title XX at a Glance, (3) Implications for Services to Children and Youth, (4) The Planning Process, (5) Publication of the Proposed Plan and the Public Comment Period, (6) After the Final Plan is…

  11. Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes.

    PubMed

    Salvemini, Marco; D'Amato, Rocco; Petrella, Valeria; Ippolito, Domenica; Ventre, Giuseppe; Zhang, Ying; Saccone, Giuseppe

    2014-01-01

    The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) anddifferential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function.

  12. Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes

    PubMed Central

    2014-01-01

    The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) and differential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function. PMID:25472628

  13. 49 CFR 1242.62 - Clearing wrecks (account XX-51-63).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-51-63). 1242.62 Section 1242.62 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.62 Clearing wrecks (account XX-51-63). Separate common expenses according to specific...

  14. 49 CFR 1242.86 - Industrial development (account XX-61-90).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Industrial development (account XX-61-90). 1242.86 Section 1242.86 Transportation Other Regulations Relating to Transportation (Continued) SURFACE....86 Industrial development (account XX-61-90). These accounts pertain solely to freight service and...

  15. 49 CFR 1242.69 - Clearing wrecks (account XX-52-63).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-52-63). 1242.69 Section 1242.69 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.69 Clearing wrecks (account XX-52-63). Separate common expenses according to specific...

  16. XX model on the circle

    NASA Astrophysics Data System (ADS)

    de Pasquale, A.; Costantini, G.; Facchi, P.; Florio, G.; Pascazio, S.; Yuasa, K.

    2008-07-01

    We diagonalize the XX model with a finite number of spins and periodic boundary conditions. We solve for the ground state, focus on the rapidity of the convergence to the thermodynamic limit and study the features of multipartite entanglement.

  17. 47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.

    PubMed

    Ioan, D; Hîrşovescu, N; Dumitriu, L; Belengeanu, V; Muşeţeanu, P; Maximilian, C

    1985-01-01

    A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.

  18. 49 CFR 1242.57 - Dispatching trains (account XX-51-58).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Dispatching trains (account XX-51-58). 1242.57 Section 1242.57 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.57 Dispatching trains (account XX-51-58). Separate common expenses on the basis of train...

  19. GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.

    PubMed

    Skordis, Nicos; Ferrari, Eleana; Antoniadou, Aria; Phylactou, Leonidas A; Fanis, Pavlos; Neocleous, Vassos

    2017-07-01

    This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis.

  20. 46,XX male disorder of sexual development:a case report.

    PubMed

    Anık, Ahmet; Çatlı, Gönül; Abacı, Ayhan; Böber, Ece

    2013-01-01

    The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.

  1. Fleet Maintenance Simulation With Insufficient Data

    DTIC Science & Technology

    2010-03-17

    Maintenance in CBM UL ddd ≤≤ UL XXX µµµ ≤≤ UL XXX σσσ ≤≤ s. t. ( ) ( )MtMcR tRtF −≤ 1 ,, Xd ( ) tLML CrtC ≤,,,, XX σµd Time S y s t e m R e l i a b i...ApprovedOMB No. 0704-0188 Public reporting burden for the collection of information is estimated to average 1 hour per response, including the time for...comply with a collection of information if it does not display a currently valid OMB control number. 1 . REPORT DATE 17 MAR 2010 2. REPORT TYPE Briefing

  2. Expression pattern of X-linked genes in sex chromosome aneuploid bovine cells.

    PubMed

    Basrur, Parvathi K; Farazmand, Ali; Stranzinger, Gerald; Graphodatskaya, Daria; Reyes, Ed R; King, W Allan

    2004-01-01

    Expression of the X-inactive specific transcript (XIST) gene is a prerequisite step for dosage compensation in mammals, accomplished by silencing one of the two X chromosomes in normal female diploid cells or all X chromosomes in excess of one in sex chromosome aneuploids. Our previous studies showing that XIST expression does not eventuate the inactivation of X-linked genes in fetal bovine testis had suggested that XIST expression may not be an indicator of X inactivation in this species. In this study, we used a semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) approach on cultures of bovine cells with varying sex chromosome constitution (XY, XX, XXY and XXX) to test whether the levels of XIST expressed conform to the number of late replicating (inactive) X chromosomes displayed by proliferating cells in these cultures. Expression patterns of four X-linked genes, including hypoxanthine phosphorybosyl transferase (HPRT), glucose-6-phosphate dehydrogenase (G6PD), zinc finger protein locus on the X (ZFX). and 'selected mouse cDNA on the X' (SMCX), in all these cells were also tested. Results showed that XIST expression was significantly higher (p < 0.05) in XXX cells compared to XX and XXY cells and that G6PD. HPRT, and SMCX loci are subject to X inactivation. The significantly higher levels of ZFX expressed in XXX cells compared to XX and XXY cells (p < 0.05) confirmed that this bovine locus, as human ZFX, escapes X inactivation. However, the levels of XIST and ZFX expressed were not proportional to the X chromosome load in these cells suggesting that X-linked loci escaping inactivation may be regulated at transcription (or post-transcription) level by mechanisms that prevent gene-specific product accumulation beyond certain levels in sex chromosome aneuploids.

  3. Monitoring and modeling of sinkhole-related subsidence in west-central Florida mapped from InSAR and surface observations

    NASA Astrophysics Data System (ADS)

    Kiflu, H.; Oliver-Cabrera, T.; Robinson, T.; Wdowinski, S.; Kruse, S.

    2017-12-01

    Sinkholes in Florida cause millions of dollars in damage to infrastructure each year. Methods of early detection of sinkhole-related subsidence are clearly desirable. We have completed two years of monitoring of selected sinkhole-prone areas in west central Florida with XXX data and analysis with XXX algorithms. Filters for selecting targets with high signal-to-noise ratio and subsidence over this time window (XX-2015-XX-2017) are being used to select sites for ground study. A subset of the buildings with InSAR-detected subsidence indicated show clear structural indications of subsidence in the form of cracks in walls and roofs. Comsol Multiphysics models have been developed to describe subsidence at the rates identified from the InSAR analysis (a few mm/year) and on spatial scales observed from surface observations, including structural deformation of buildings and ground penetrating radar images of subsurface deformation (length scales of meters to tens of meters). These models assume cylindrical symmetry and deformation of elastic and poroelastic layers over a growing sphering void.

  4. Comprehensive Social Service Programs for Handicapped Citizens through Title XX.

    ERIC Educational Resources Information Center

    Roten, Shelby Jean

    Reviewed are present and potential services and social programs for handicapped children in Mississippi through purchase of service contracts under Title XX of the Social Security Act. Sections cover the following topics: background and purpose of Title XX which gives states greater control over social service programs, planning state supported…

  5. A new perturbative approach to nonlinear partial differential equations

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Bender, C.M.; Boettcher, S.; Milton, K.A.

    1991-11-01

    This paper shows how to solve some nonlinear wave equations as perturbation expansions in powers of a parameter that expresses the degree of nonlinearity. For the case of the Burgers equation {ital u}{sub {ital t}}+{ital uu}{sub {ital x}}={ital u}{sub {ital xx}}, the general nonlinear equation {ital u}{sub {ital t}}+{ital u}{sup {delta}}{ital u}{sub {ital x}}={ital u}{sub {ital xx}} is considered and expanded in powers of {delta}. The coefficients of the {delta} series to sixth order in powers of {delta} is determined and Pade summation is used to evaluate the perturbation series for large values of {delta}. The numerical results are accuratemore » and the method is very general; it applies to other well-studied partial differential equations such as the Korteweg--de Vries equation, {ital u}{sub {ital t}}+{ital uu}{sub {ital x}} ={ital u}{sub {ital xxx}}.« less

  6. Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

    PubMed

    Hipp, Lauren E; Mohnach, Lauren H; Wei, Sainan; Thomas, Inas H; Elhassan, Maha E; Sandberg, David E; Quint, Elisabeth H; Keegan, Catherine E

    2016-01-01

    Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development. © 2015 Wiley Periodicals, Inc.

  7. The craniofacial complex in 47, XXX females.

    PubMed

    Krusinskiene, Viktorija; Krusinskie, Viktorija; Alvesalo, Lassi; Sidlauskas, Antanas

    2005-08-01

    A study of the craniofacial complex in four 47, XXX Finnish females, or females with an extra X chromosome, was carried out using cephalometric analysis comprising linear and angular measurements. The lengths of the anterior and posterior cranial bases, the calvarium, mandibular ramus and posterior and upper anterior face heights were found to be significantly shorter than in female controls, while the angles between the foraminal and clival planes, the mandibular plane and cranial base, the maxillary and occlusal planes, the maxillary and mandibular planes and the foraminal and mandibular planes, and also the gonial angle, were significantly enlarged. The present findings of reduced linear measurements, together with the results of studies on the craniofacial complex of 47, XXY and 47, XYY males, suggest dimensional variation between these groups from the promoting effect of an extra Y chromosome and the retarding effect of an extra X chromosome on craniofacial growth.

  8. 49 CFR 1242.48 - Work and other non-revenue equipment (account XX-27-47).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Work and other non-revenue equipment (account XX... RAILROADS 1 Operating Expenses-Equipment § 1242.48 Work and other non-revenue equipment (account XX-27-47...—other (account XX-19-06). ...

  9. A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

    PubMed

    Skałba, Piotr; Cygal, Anna; Gierzyńska, Zuzanna

    2010-01-01

    A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.

  10. 49 CFR 1242.10 - Administration-track (account XX-19-02).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

  11. 49 CFR 1242.10 - Administration-track (account XX-19-02).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

  12. Lipid solvation effects contribute to the affinity of Gly-xxx-Gly motif-mediated helix-helix interactions.

    PubMed

    Johnson, Rachel M; Rath, Arianna; Melnyk, Roman A; Deber, Charles M

    2006-07-18

    Interactions between transmembrane helices are mediated by the concave Gly-xxx-Gly motif surface. Whether Gly residues per se are sufficient for selection of this motif has not been established. Here, we used the in vivo TOXCAT assay to measure the relative affinities of all 18 combinations of Gly, Ala, and Ser "small-xxx-small" mutations in glycophorin A (GpA) and bacteriophage M13 major coat protein (MCP) homodimers. Affinity values were compared with the accessibility to a methylene-sized probe of the total surface area of each helix monomer as a measure of solvation by membrane components. A strong inverse correlation was found between nonpolar-group lipid accessibility and dimer affinity (R = 0.75 for GpA, p = 0.013, and R = 0.81 for MCP, p = 0.004), suggesting that lipid as a poor membrane protein solvent, conceptually analogous to water in soluble protein folding, can contribute to dimer stability and help to define helix-helix interfaces.

  13. 17 CFR 230.163 - Exemption from section 5(c) of the Act for certain communications by or on behalf of well-known...

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... communication that is an offer made in reliance on this exemption will be a free writing prospectus as defined... complete information about the issuer and this offering. You may get these documents for free by visiting... prospectus after filing if you request it by calling toll-free 1-8[xx-xxx-xxxx]. (ii) The legend also may...

  14. 17 CFR 230.163 - Exemption from section 5(c) of the Act for certain communications by or on behalf of well-known...

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... communication that is an offer made in reliance on this exemption will be a free writing prospectus as defined... complete information about the issuer and this offering. You may get these documents for free by visiting... prospectus after filing if you request it by calling toll-free 1-8[xx-xxx-xxxx]. (ii) The legend also may...

  15. 17 CFR 230.163 - Exemption from section 5(c) of the Act for certain communications by or on behalf of well-known...

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... communication that is an offer made in reliance on this exemption will be a free writing prospectus as defined... complete information about the issuer and this offering. You may get these documents for free by visiting... prospectus after filing if you request it by calling toll-free 1-8[xx-xxx-xxxx]. (ii) The legend also may...

  16. 17 CFR 230.163 - Exemption from section 5(c) of the Act for certain communications by or on behalf of well-known...

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... communication that is an offer made in reliance on this exemption will be a free writing prospectus as defined... complete information about the issuer and this offering. You may get these documents for free by visiting... prospectus after filing if you request it by calling toll-free 1-8[xx-xxx-xxxx]. (ii) The legend also may...

  17. 17 CFR 230.163 - Exemption from section 5(c) of the Act for certain communications by or on behalf of well-known...

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... communication that is an offer made in reliance on this exemption will be a free writing prospectus as defined... complete information about the issuer and this offering. You may get these documents for free by visiting... prospectus after filing if you request it by calling toll-free 1-8[xx-xxx-xxxx]. (ii) The legend also may...

  18. Title XX: Social Services in Your State. A Child Advocate's Handbook for Action.

    ERIC Educational Resources Information Center

    Children's Defense Fund, Washington, DC.

    This booklet is a guide for those wishing to route Title XX money into the community programs for children. Part I discusses ways for child advocates to participate in four key stages of the Title XX planning process in their state: planning proposals, raising the 25% non-federal share of the funds required by Title XX, and publishing proposed and…

  19. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    PubMed

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  20. Atomic structure calculations and identification of EUV and SXR spectral lines in Sr XXX

    NASA Astrophysics Data System (ADS)

    Goyal, Arun; Khatri, Indu; Aggarwal, Sunny; Singh, A. K.; Mohan, Man

    2015-08-01

    We report an extensive theoretical study of atomic data for Sr XXX in a wide range with L-shell electron excitations to the M-shell. We have calculated energy levels, wave-function compositions and lifetimes for lowest 113 fine structure levels and wavelengths of an extreme Ultraviolet (EUV) and soft X-ray (SXR) transitions. We have employed multi-configuration Dirac Fock method (MCDF) approach within the framework of Dirac-Coulomb Hamiltonian including quantum electrodynamics (QED) and Breit corrections. We have also presented the radiative data for electric and magnetic dipole (E1, M1) and quadrupole (E2, M2) transitions from the ground state. We have made comparisons with available energy levels compiled by NIST and achieve good agreement. But due to inadequate data in the literature, analogous relativistic distorted wave calculations have also been performed using flexible atomic code (FAC) to assess the reliability and accuracy of our results. Additionally, we have provided new atomic data for Sr XXX which is not published elsewhere in the literature and we believe that our results may be beneficial in fusion plasma research and astrophysical investigations and applications.

  1. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.

    PubMed

    Nicolaides, Kypros H; Musci, Thomas J; Struble, Craig A; Syngelaki, Argyro; Gil, M M

    2014-01-01

    To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex chromosome aneuploidies (45,X, n = 49; 47,XXX, n = 6; 47,XXY, n = 1; 47,XYY, n = 3) and 118 with euploid fetuses (46,XY, n = 59; 46,XX, n = 59). Digital analysis of selected regions (DANSR™) on chromosomes 21, 18, 13, X and Y was performed and the fetal-fraction optimized risk of trisomy evaluation (FORTE™) algorithm was used to estimate the risk for non-disomic genotypes. Performance was calculated at a risk cut-off of 1:100. Analysis of cfDNA provided risk scores for 172 (97.2%) samples; 4 samples (45,X, n = 2; 46,XY, n = 1; 46,XX, n = 1) had an insufficient fetal cfDNA fraction for reliable testing and 1 case (47,XXX) failed laboratory quality control metrics. The classification was correct in 43 (91.5%) of 47 cases of 45,X, all 5 of 47,XXX, 1 of 47,XXY and 3 of 47,XYY. There were no false-positive results for monosomy X. Analysis of cfDNA by chromosome-selective sequencing can correctly classify fetal sex chromosome aneuploidy with reasonably high sensitivity. © 2013 S. Karger AG, Basel.

  2. 49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

  3. 49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

  4. 49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

  5. 49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

  6. [Medicopsychosocial syndrome of polygonosomies (XXX, XXY, XYY, syndromes etc...)].

    PubMed

    Benezech, M; Bourgeois, M

    1976-01-01

    This is an attempt to describe a common syndrom of polygonosomy. Medical, psychological and social incidences of XXX, XXY, XYY, genotypes indicate that these chromosomal aberrations share identical features: phenotypic abnormalities (high stature, dermatoglyphes abnormalities), neuropsychic troubles (neurological symptoms and mental fragility) and antisocial tendancy. One can suppose that at least some polygonosomic persons have a minimal brain dysfunction (or damage), which causes more vulnerability to environnement, deprivation and stress. Relational, educational and socio-economical factors appear now to have a marked role in the etiopathogenesis of these psychiatric troubles. Some forensic and ethical problems of human genetic research are reviewed, such as the so-called "criminal chromosome", supplementary Y chromosome, a myth based upon false and premature scientific assertions.

  7. Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Zhou, Linyan; Luo, Feng; Fang, Xuelian

    Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Terminationmore » of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. - Highlights: • DHP plays a critical role in early stage oogenesis of XX tilapia. • Blockage of DHP actions by RU486 treatment led to masculinization and/or sex reversal in XX tilapia. • Both DHP and estrogen are indispensable for ovarian differentiation.« less

  8. Linear and Non-linear Polarizabilities for P2(X1Σg+)

    NASA Astrophysics Data System (ADS)

    Maroulis, George

    1997-07-01

    Electric polarizabilities and hyperpolarizabilities were calculated from accurate self-consistent field wavefunctions for P2. The following values are reported, using the experimental bond length of 1.8934 Å: dipole polarizability αzz = 69.83 and αxx = 41.20 e2 a02 Eh-1 , second dipole hyperpolarizability γzzzz = 17 040, γxxxx= 11 581 and γxxzz = 4724 e4a04Eh-3, quadrupole polarizability, Czz "zz = 276.14, Cxz,xz = 232.64 and Cxx,xx = 151.25 e2 a04Eh-1 , dipole-octopole polarizability, Ez,zzz, = 331.00 and Ex,xxx = -154.66 e2 a04Eh-1 and for the dipole-dipole-quadrupole hyperpolarizability, Bzz,zz = - 2441, Bxz,xz = - 1442, Bxx,zz = 866 and Bxx,xx = - 1411 e3a04Eh-2.

  9. 49 CFR 1242.35 - Repair and maintenance (account XX-26-41).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Repair and maintenance (account XX-26-41). 1242.35...-Equipment § 1242.35 Repair and maintenance (account XX-26-41). (a) Where the carrier maintains records of... locomotive units or classes of locomotive units are used exclusively in road-freight, road-passenger, yard...

  10. 49 CFR 1242.19 - Electric power systems (account XX-19-21).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Electric power systems (account XX-19-21). 1242.19... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.19 Electric power systems (account XX-19-21). Separate common expenses on basis of common...

  11. 75 FR 67165 - Proposed Collection; Comment Request for Revenue Procedure2007-XX (RP-155430-05)

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-01

    ... Revenue Procedure 2007- XX (RP-155430-05) AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice... soliciting comments concerning Revenue Procedure 2007-XX (RP-155430-05), Section 6707/6707A Accelerated... Procedure 2007-XX (RP-155430-05). Abstract: The collection of information this revenue procedure requires is...

  12. One-Way Deficit and Quantum Phase Transitions in XX Model

    NASA Astrophysics Data System (ADS)

    Wang, Yao-Kun; Zhang, Yu-Ran

    2018-02-01

    Quantum correlations including entanglement and quantum discord have drawn much attention in characterizing quantum phase transitions. Quantum deficit originates in questions regarding work extraction from quantum systems coupled to a heat bath (Oppenheim et al. Phys. Rev. Lett. 89, 180402, 2002). It links quantum thermodynamics with quantum correlations and provides a new standpoint for understanding quantum non-locality. In this paper, we evaluate the one-way deficit of two adjacent spins in the bulk for the XX model. In the thermodynamic limit, the XX model undergoes a first order transition from fully polarized to a critical phase with quasi-long-range order with decrease of quantum parameter. We find that the one-way deficit becomes nonzero after the critical point. Therefore, the one-way deficit characterizes the quantum phase transition in the XX model.

  13. Through-thickness recrystallization characteristics of a laminated AA3xxx–AA6xxx aluminum alloy system

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Liao, L.H., E-mail: l2liao@uwaterloo.ca; Jin, H.; Gallerneault, M.

    2015-03-15

    The through-thickness annealing behavior of a laminated AA3xxx–AA6xxx alloy system at 300 °C has been studied by scanning electron microscopy, electron backscatter diffraction analysis, electron probe micro-analysis, differential scanning calorimetry, and hardness measurement. Results show that the recrystallization process starts at the interface region between the AA3xxx (clad) and AA6xxx (core) layers. Subsequently, the recrystallization process front progresses into the core layer, while the clad layer is the last region to recrystallize. It is also found that precipitation precedes recrystallization in the entire laminate at the investigated temperature. The preferential onset of recrystallization at the interface region is attributed tomore » the net driving pressure being the highest in this region. The factors that lead to such enhanced net driving pressure are (a) deformation incompatibility between the two alloy layers, (b) lower solute content of the interface, which also leads to lower volume fraction of precipitates, and (c) an accelerated rate of precipitate coarsening due to the presence of a higher density of dislocations. The gradual progress of recrystallization from the interface towards the core layer is dictated by precipitate coarsening and the dependence of its rate on the density of deformation-induced dislocations. The lower driving pressure due to lower work hardening capacity, high solute drag pressure due to Mn, and additional Zener drag from precipitates that form due to solute redistribution during annealing explain the late initiation of recrystallization in the clad layer. - Highlights: • The through-thickness recrystallization of a laminated system is investigated. • The early onset of recrystallization at the interface is discussed. • The effects of precipitation and coarsening on recrystallization are analyzed.« less

  14. Characterization and Evolutionary Implications of the Triad Asp-Xxx-Glu in Group II Phosphopantetheinyl Transferases

    PubMed Central

    Wang, Yue-Yue; Li, Yu-Dong; Liu, Jian-Bo; Ran, Xin-Xin; Guo, Yuan-Yang; Ren, Ni-Ni; Chen, Xin; Jiang, Hui; Li, Yong-Quan

    2014-01-01

    Phosphopantetheinyl transferases (PPTases), which play an essential role in both primary and secondary metabolism, are magnesium binding enzymes. In this study, we characterized the magnesium binding residues of all known group II PPTases by biochemical and evolutionary analysis. Our results suggested that group II PPTases could be classified into two subgroups, two-magnesium-binding-residue-PPTases containing the triad Asp-Xxx-Glu and three-magnesium-binding-residue-PPTases containing the triad Asp-Glu-Glu. Mutations of two three-magnesium-binding-residue-PPTases and one two-magnesium-binding-residue-PPTase indicate that the first and the third residues in the triads are essential to activities; the second residues in the triads are non-essential. Although variations of the second residues in the triad Asp-Xxx-Glu exist throughout the whole phylogenetic tree, the second residues are conserved in animals, plants, algae, and most prokaryotes, respectively. Evolutionary analysis suggests that: the animal group II PPTases may originate from one common ancestor; the plant two-magnesium-binding-residue-PPTases may originate from one common ancestor; the plant three-magnesium-binding-residue-PPTases may derive from horizontal gene transfer from prokaryotes. PMID:25036863

  15. Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferases.

    PubMed

    Wang, Yue-Yue; Li, Yu-Dong; Liu, Jian-Bo; Ran, Xin-Xin; Guo, Yuan-Yang; Ren, Ni-Ni; Chen, Xin; Jiang, Hui; Li, Yong-Quan

    2014-01-01

    Phosphopantetheinyl transferases (PPTases), which play an essential role in both primary and secondary metabolism, are magnesium binding enzymes. In this study, we characterized the magnesium binding residues of all known group II PPTases by biochemical and evolutionary analysis. Our results suggested that group II PPTases could be classified into two subgroups, two-magnesium-binding-residue-PPTases containing the triad Asp-Xxx-Glu and three-magnesium-binding-residue-PPTases containing the triad Asp-Glu-Glu. Mutations of two three-magnesium-binding-residue-PPTases and one two-magnesium-binding-residue-PPTase indicate that the first and the third residues in the triads are essential to activities; the second residues in the triads are non-essential. Although variations of the second residues in the triad Asp-Xxx-Glu exist throughout the whole phylogenetic tree, the second residues are conserved in animals, plants, algae, and most prokaryotes, respectively. Evolutionary analysis suggests that: the animal group II PPTases may originate from one common ancestor; the plant two-magnesium-binding-residue-PPTases may originate from one common ancestor; the plant three-magnesium-binding-residue-PPTases may derive from horizontal gene transfer from prokaryotes.

  16. Development of the LSF95xx 2nd generation flexure bearing coolers

    NASA Astrophysics Data System (ADS)

    Mullie, J. C.; Bruins, P. C.; Benschop, T.; Meijers, M.

    2005-05-01

    Thales Cryogenics has been working on high reliability cryocoolers since 1997. During this period two cooler series have been developed, the LSF91xx series for cooling powers up to 3W at 80K and the LSF93xx series for cooling powers up to 8W at 80K. As a result of several design improvements, it was possible to decrease the length and mass of our flexure-bearing coolers. These improvements have been applied in the new LSF95xx series. With the length and mass reduction, the LSF95xx complies with the SADA II specification with respect to envelope and mass. Based on this, Thales Cryogenics is the first manufacturer offering a full flexure-bearing supported cooler that fits within the SADA II envelope. By using a moving magnet configuration in all our flexure-bearing coolers, the risk with respect to contamination problems due to out-gassing has been diminished because the coils are not part of the helium circuit. Furthermore, all connections in the LSF95xx are laser-welded, which means that there is no additional locking required inside the cooler. By using a different magnet design, no magnet segments have to be glued together, which decreases the risk of out-gassing and increases the reliability even more. This paper describes the trade-offs that have been considered in the design phase, and gives a detailed overview of the test results, the status of the qualification program and the resulting specification of the LSF95xx cooler series.

  17. Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports.

    PubMed

    Sugawara, Nobuo; Maeda, Machiko; Manome, Tomomi; Nagai, Rie; Araki, Yasuhisa

    2013-10-01

    Pubertal onset and sexual development are usually normal in 47, XXX individuals; however, we report two cases of premature ovarian failure (POF) in infertile women with trisomy X. Chromosome analysis was conducted with G-banding and fluorescence in situ hybridization using X- and Y-bearing probe. Hormonal administration was primarily Kaufmann's treatment or long-term estradiol treatment, followed by withdrawal bleeding from estrogen and progesterone. Two patients with trisomy X, aged 31 (patient 1) and 27 years (patient 2), were diagnosed with POF due to hypergonadotropic hypogonadism. Their ovaries were small. Patient 1 had a FSH level of 44.6 mIU/ml and patient 2 had a FSH level of 74.6 mIU/ml. In patient 1, with Kaufmann's treatment, the FSH decreased to 13.5 mIU/ml; however, follicle growth did not occur following HMG stimulation. In patient 2, FSH did not decrease despite Kaufmann's treatment; therefore, she was given a GnRH agonist and her FSH level decreased to 7.1 mIU/ml. However, her ovaries never responded to HMG stimulation. We report on two patients with a 47, XXX karyotype who became infertile due to POF. We recommend that when a patient is diagnosed with trisomy X, the possibility of POF must be strongly considered.

  18. VEGF(121)b, a new member of the VEGF(xxx)b family of VEGF-A splice isoforms, inhibits neovascularisation and tumour growth in vivo.

    PubMed

    Rennel, E S; Varey, A H R; Churchill, A J; Wheatley, E R; Stewart, L; Mather, S; Bates, D O; Harper, S J

    2009-10-06

    The key mediator of new vessel formation in cancer and other diseases is VEGF-A. VEGF-A exists as alternatively spliced isoforms - the pro-angiogenic VEGF(xxx) family generated by exon 8 proximal splicing, and a sister family, termed VEGF(xxx)b, exemplified by VEGF(165)b, generated by distal splicing of exon 8. However, it is unknown whether this anti-angiogenic property of VEGF(165)b is a general property of the VEGF(xxx)b family of isoforms. The mRNA and protein expression of VEGF(121)b was studied in human tissue. The effect of VEGF(121)b was analysed by saturation binding to VEGF receptors, endothelial migration, apoptosis, xenograft tumour growth, pre-retinal neovascularisation and imaging of biodistribution in tumour-bearing mice with radioactive VEGF(121)b. The existence of VEGF(121)b was confirmed in normal human tissues. VEGF(121)b binds both VEGF receptors with similar affinity as other VEGF isoforms, but inhibits endothelial cell migration and is cytoprotective to endothelial cells through VEGFR-2 activation. Administration of VEGF(121)b normalised retinal vasculature by reducing both angiogenesis and ischaemia. VEGF(121)b reduced the growth of xenografted human colon tumours in association with reduced microvascular density, and an intravenous bolus of VEGF(121)b is taken up into colon tumour xenografts. Here we identify a second member of the family, VEGF(121)b, with similar properties to those of VEGF(165)b, and underline the importance of the six amino acids of exon 8b in the anti-angiogenic activity of the VEGF(xxx)b isoforms.

  19. Case report of a 22-week fetus with 47,XXX karyotype and multiple lower mesodermal defects.

    PubMed

    Hoang, M P; Wilson, K S; Schneider, N R; Timmons, C F

    1999-01-01

    A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic ovaries, and uterine hypoplasia. This case provides additional evidence for an association between trisomy X and genitourinary defects including lower mesodermal defects sequence.

  20. 49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

  1. 49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

  2. A comparative genomic hybridization study in a 46,XX male.

    PubMed

    Rigola, M Angels; Carrera, Marta; Ribas, Isabel; Egozcue, Josep; Miró, Rosa; Fuster, Carme

    2002-07-01

    To identify Y chromosome material in an azoospermic male with an XX karyotype. Case report. Faculty of medicine and Centro de Patologia Celular (CPC) medical center. A 33-year-old man with infertility. G-banding, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (CGH). FISH for X and Y chromosomes, PCR for the SRYgene and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH. FISH analysis using X and Y chromosome-specific probes showed an X chromosome containing Y chromosome sequences on the top of the short arm; this Y chromosome region was not visible by conventional cytogenetic analysis. PCR amplification of DNA showed the presence of the sex-determining region of the Y chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the X chromosome (AMGX). CGH confirmed the presence of the chromosome region Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes. The two Xpter (XPAR1) pseudoautosomal regions present in this XX male suggest the need to reevaluate XX males using CGH and PCR to characterize the clinical variability in XX males due to genes other than those located on the Y chromosome.

  3. Determinant representations of spin-operator matrix elements in the XX spin chain and their applications

    NASA Astrophysics Data System (ADS)

    Wu, Ning

    2018-01-01

    For the one-dimensional spin-1/2 XX model with either periodic or open boundary conditions, it is shown by using a fermionic approach that the matrix element of the spin operator Sj- (Sj-Sj'+ ) between two eigenstates with numbers of excitations n and n +1 (n and n ) can be expressed as the determinant of an appropriate (n +1 )×(n +1 ) matrix whose entries involve the coefficients of the canonical transformations diagonalizing the model. In the special case of a homogeneous periodic XX chain, the matrix element of Sj- reduces to a variant of the Cauchy determinant that can be evaluated analytically to yield a factorized expression. The obtained compact representations of these matrix elements are then applied to two physical scenarios: (i) Nonlinear optical response of molecular aggregates, for which the determinant representation of the transition dipole matrix elements between eigenstates provides a convenient way to calculate the third-order nonlinear responses for aggregates from small to large sizes compared with the optical wavelength; and (ii) real-time dynamics of an interacting Dicke model consisting of a single bosonic mode coupled to a one-dimensional XX spin bath. In this setup, full quantum calculation up to N ≤16 spins for vanishing intrabath coupling shows that the decay of the reduced bosonic occupation number approaches a finite plateau value (in the long-time limit) that depends on the ratio between the number of excitations and the total number of spins. Our results can find useful applications in various "system-bath" systems, with the system part inhomogeneously coupled to an interacting XX chain.

  4. Dollar Summary of Prime Contract Awards by Contractor, State or Country, and Place, FY 87. Part 3. Finalco Group, Incorporated-Kennedy Electric Company.

    DTIC Science & Technology

    1987-01-01

    CO: y6)-t . I439Ct- 311 -9.I _sx3~ 9XXx ~ 3: t3 : 1911I wIl 41 l WLL wU1 .6)6WU. Ii li-I.J ... jAj .1.A.u4,J’jW O j jU. C. .J 1 .1-.1...4 -U . U to...511Wm L - 100x > .. (n OL4(AUC UI IA cc td )( I0- 4e cci5 eC 0 1- P j X3 I a . .I . -4. - 6i- -4 x 2 x . ).E x4 xx.4xx x 6LC L 0 (A I of- .. .. ~ ....43

  5. Population pharmacokinetics of ticagrelor and AR-C124910XX in patients with prior myocardial infarction
.

    PubMed

    Röshammar, Daniel; Bergstrand, Martin; Andersson, Tomas; Storey, Robert F; Hamrén, Bengt

    2017-05-01

    The population pharmacokinetics of ticagrelor and its active metabolite AR-C124910XX were characterized following ticagrelor 60 mg or 90 mg twice daily oral long-term treatment in 4,426 patients with a history of myocardial infarction. The ticagrelor and AR-C124910XX plasma concentration-time data were described by one-compartment models with first-order absorption or metabolite formation and elimination. Systemic exposure to ticagrelor and AR-C124910XX were stable over time. Ticagrelor apparent clearance (CL/F) was 17 L/h for the 60-mg and 15.4 L/h for the 90-mg dose. The CL/F of AR-C124910XX was 11.1 L/h for the 60-mg and 9.95 L/h for the 90-mg dose. Both ticagrelor and AR-C124910XX CL/F were independently influenced by body weight, sex, age, smoking, and Japanese ethnicity. Female sex and age > 75 years were the only categorical covariates, having more than 20% effect on AR-C124910XX CL/F. Ticagrelor CL/F was 6% higher and 11% lower, whereas AR-C124910XX CL/F was 26% higher and 34% lower for patients weighing 110 and 50 kg, respectively, compared with an 83 kg patient. The small differences in exposure to both ticagrelor and AR-C124910XX between demographic subgroups were in accordance with the consistent efficacy and safety outcomes observed across the population. The results were similar to those observed previously in patients with acute coronary syndromes.
.

  6. 49 CFR 1242.59 - Train inspection and lubrication (account XX-51-62).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Train inspection and lubrication (account XX-51-62). 1242.59 Section 1242.59 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.59 Train inspection and lubrication (account XX-51-62). Separate common expenses on basis...

  7. 49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

  8. 49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

  9. 49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

  10. 49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

  11. 49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

  12. 49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

  13. 49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

  14. 49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

  15. 49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

  16. 49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

  17. Primary osteomyelofibrosis and an XX-male genotype.

    PubMed

    Schanz, Julie; Haase, Detlef; Steuernagel, Peter; Shirneshan, Katayoo; Bäsecke, Jörg

    2015-09-01

    A 62-yr-old man with two healthy daughters was diagnosed with osteomyelofibrosis. To our surprise, a female XX-karyotype was observed in bone marrow and confirmed in PHA-stimulated T-lymphocytes from peripheral blood. Further molecular genetic investigation revealed a submicroscopic translocation between the short arm of X and Y, which leads to an XX-male genotype based on an unbalanced translocation X;Y. This rare coincidence was further accentuated as the USP9Y gene, suspected to be to be involved in sperm cell production, was absent, but no azoospermia was present. In general, routine cytogenetics may result in findings that need to be further delineated and, as here, lead to a rare observation. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. 49 CFR 1242.21 - Station and office buildings (account XX-19-23).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Station and office buildings (account XX-19-23). 1242.21 Section 1242.21 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.21 Station and office buildings (account XX-19-23). If the sum of the direct freight and...

  19. Excited state properties of naphtho-homologated xxDNA bases and effect of methanol solution, deoxyribose, and base pairing.

    PubMed

    Zhang, Laibin; Ren, Tingqi; Tian, Jianxiang; Yang, Xiuqin; Zhou, Liuzhu; Li, Xiaoming

    2013-04-18

    Design and synthesis of fluorescent nucleobase analogues for studying structures and dynamics of nucleic acids have attracted much attention in recent years. In the present work, a comprehensive theoretical study of electronic transitions of naphtho-homologated base analogues, namely, xxC, xxT, xxA, and xxG, was performed. The nature of the low-lying excited states was discussed, and the results were compared with those of x-bases. Geometrical characteristics of the lowest excited singlet ππ* states were explored using the CIS method. The calculated excitation maxima are 423, 397, 383, and 357 nm for xxA, xxG, xxC, and xxT, respectively, and they are greatly red-shifted compared with x-bases and natural bases, allowing them to be selectively excited in the presence of the natural bases. In the gas phase, the fluorescence from them would be expected to occur around 497, 461, 457, and 417 nm, respectively. The effects of methanol solution, deoxyribose, and base paring with their complementary natural bases on the relevant absorption and emission spectra of these modified bases were also examined.

  20. Pressure dependence of backbone chemical shifts in the model peptides Ac-Gly-Gly-Xxx-Ala-NH2.

    PubMed

    Erlach, Markus Beck; Koehler, Joerg; Crusca, Edson; Kremer, Werner; Munte, Claudia E; Kalbitzer, Hans Robert

    2016-06-01

    For a better understanding of nuclear magnetic resonance (NMR) detected pressure responses of folded as well as unstructured proteins the availability of data from well-defined model systems are indispensable. In this work we report the pressure dependence of chemical shifts of the backbone atoms (1)H(α), (13)C(α) and (13)C' in the protected tetrapeptides Ac-Gly-Gly-Xxx-Ala-NH2 (Xxx one of the 20 canonical amino acids). Contrary to expectation the chemical shifts of these nuclei have a nonlinear dependence on pressure in the range from 0.1 to 200 MPa. The polynomial pressure coefficients B 1 and B 2 are dependent on the type of amino acid studied. The coefficients of a given nucleus show significant linear correlations suggesting that the NMR observable pressure effects in the different amino acids have at least partly the same physical cause. In line with this observation the magnitude of the second order coefficients of nuclei being direct neighbors in the chemical structure are also weakly correlated.

  1. Cytogenetic analysis of somatic and germinal cells from 38,XX/38,XY phenotypically normal boars.

    PubMed

    Barasc, Harmonie; Ferchaud, Stéphane; Mary, Nicolas; Cucchi, Marie Adélaïde; Lucena, Amalia Naranjo; Letron, Isabelle Raymond; Calgaro, Anne; Bonnet, Nathalie; Dudez, Anne Marie; Yerle, Martine; Ducos, Alain; Pinton, Alain

    2014-01-15

    Many chromosomal abnormalities have been reported to date in pigs. Most of them have been balanced structural rearrangements, especially reciprocal translocations. A few cases of XY/XX chimerism have also been diagnosed within the national systematic chromosomal control program of young purebred boars carried out in France. Until now, this kind of chromosomal abnormality has been mainly reported in intersex individuals. We investigated 38,XY/38,XX boars presenting apparently normal phenotypes to evaluate the potential effects of this particular chromosomal constitution on their reproductive performance. To do this, we analyzed (1) the chromosomal constitution of cells from different organs in one boar; (2) the aneuploidy rates for chromosomes X, Y, and 13 in sperm nuclei sampled from seven XY/XX boars. 2n = 38,XX cells were identified in different nonhematopoietic tissues including testis (frequency, <8%). Similar aneuploidy rates were observed in the sperm nuclei of XY/XX and normal individuals (controls). Altogether, these results suggest that the presence of XX cells had no or only a very limited effect on the reproduction abilities of the analyzed boars. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

    PubMed

    Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

    2014-06-01

    The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

  3. 49 CFR 1242.41 - Other and casualties and insurance (accounts XX-26-99 and 50-26-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-26... RAILROADS 1 Operating Expenses-Equipment § 1242.41 Other and casualties and insurance (accounts XX-26-99 and... administration (account XX-26-01). freight cars ...

  4. 49 CFR 1242.65 - Other and casualties and insurance (accounts XX-51-99 and 50-51-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-51... RAILROADS 1 Operating Expenses-Transportation § 1242.65 Other and casualties and insurance (accounts XX-51... separation of administration (account XX-51-01). yard operations ...

  5. Obtaining highly excited eigenstates of the localized XX chain via DMRG-X

    NASA Astrophysics Data System (ADS)

    Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A.; Sondhi, S. L.

    2017-10-01

    We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition. This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'.

  6. Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus).

    PubMed

    Zhou, Linyan; Luo, Feng; Fang, Xuelian; Charkraborty, Tapas; Wu, Limin; Wei, Jing; Wang, Deshou

    2016-04-22

    Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120 dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90 dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Termination of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Monitoring Services to Children: Title XX

    ERIC Educational Resources Information Center

    Black Child Development Institute

    1977-01-01

    The proliferation of State offices of child development and the advent of Social Security Title XX funds have been accompanied by confusion at every level of government and in the black community. The impact of these developments on availability of good day care for children is examined and recommendations are made. (Author/AM)

  8. Slavnov and Gaudin-Korepin Formulas for Models without U(1) Symmetry: the Twisted XXX Chain

    NASA Astrophysics Data System (ADS)

    Belliard, Samuel; Pimenta, Rodrigo A.

    2015-12-01

    We consider the XXX spin-1/2 Heisenberg chain on the circle with an arbitrary twist. We characterize its spectral problem using the modified algebraic Bethe anstaz and study the scalar product between the Bethe vector and its dual. We obtain modified Slavnov and Gaudin-Korepin formulas for the model. Thus we provide a first example of such formulas for quantum integrable models without U(1) symmetry characterized by an inhomogenous Baxter T-Q equation.

  9. 49 CFR 1242.45 - Passenger and other revenue equipment (account XX-27-45).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Passenger and other revenue equipment (account XX-27-45). 1242.45 Section 1242.45 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Equipment § 1242.45 Passenger and other revenue equipment (account XX-27-45...

  10. 49 CFR 1242.54 - Other and casualties and insurance (accounts XX-27-99 and 50-27-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-27... RAILROADS 1 Operating Expenses-Equipment § 1242.54 Other and casualties and insurance (accounts XX-27-99 and... administration (account XX-27-01). Operating Expenses—Transportation train operations ...

  11. 49 CFR 1242.82 - Other and casualties and insurance (accounts XX-55-99 and 50-55-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-55... RAILROADS 1 Operating Expenses-Transportation § 1242.82 Other and casualties and insurance (accounts XX-55... separation of administration (account XX-55-01). Operating Expenses general and administration ...

  12. 49 CFR 1242.72 - Other and casualties and insurance (accounts XX-52-99 and 50-52-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-52... RAILROADS 1 Operating Expenses-Transportation § 1242.72 Other and casualties and insurance (accounts XX-52... separation of administration (account XX-52-01). train and yard operations common ...

  13. Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

    PubMed

    Berglund, A; Johannsen, T H; Stochholm, K; Aksglaede, L; Fedder, J; Viuff, M H; Main, K M; Gravholt, C H

    2017-08-01

    , and their income was reduced for the following age groups; 45-49 years: odds ratio [OR] = 0.4 (95% CI: 0.2-0.7); 50-54 years: OR = 0.1 (95% CI: 0.0-0.6). The study cohort is rather small, although it is large in comparison to other studies on 46,XX DSD males. Some 46,XX DSD males may have been excluded from the study owing to lack of data in medical records, making the diagnosis impossible to verify. As in all epidemiologic studies a risk of misclassification must be considered when interpreting the study results, and as the study included diagnosed 46,XX DSD males only, conclusions cannot be extended to non-diagnosed 46,XX DSD males. This study provides a new insight into trajectory of health and socioeconomic status of 46,XX DSD males. This study was funded by research grants from the Health Research Fund of Central Denmark Region, the A.P. Møller Foundation 'Fonden til Laegevidenskabens Fremme', the Lundbeck Foundation and the Novo Nordisk Foundation (NNF13OC0003234 and NNF15OC0016474). The authors have nothing to declare. N/A. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

  14. One motif to bind them: A small-XXX-small motif affects transmembrane domain 1 oligomerization, function, localization, and cross-talk between two yeast GPCRs.

    PubMed

    Lock, Antonia; Forfar, Rachel; Weston, Cathryn; Bowsher, Leo; Upton, Graham J G; Reynolds, Christopher A; Ladds, Graham; Dixon, Ann M

    2014-12-01

    G protein-coupled receptors (GPCRs) are the largest family of cell-surface receptors in mammals and facilitate a range of physiological responses triggered by a variety of ligands. GPCRs were thought to function as monomers, however it is now accepted that GPCR homo- and hetero-oligomers also exist and influence receptor properties. The Schizosaccharomyces pombe GPCR Mam2 is a pheromone-sensing receptor involved in mating and has previously been shown to form oligomers in vivo. The first transmembrane domain (TMD) of Mam2 contains a small-XXX-small motif, overrepresented in membrane proteins and well-known for promoting helix-helix interactions. An ortholog of Mam2 in Saccharomyces cerevisiae, Ste2, contains an analogous small-XXX-small motif which has been shown to contribute to receptor homo-oligomerization, localization and function. Here we have used experimental and computational techniques to characterize the role of the small-XXX-small motif in function and assembly of Mam2 for the first time. We find that disruption of the motif via mutagenesis leads to reduction of Mam2 TMD1 homo-oligomerization and pheromone-responsive cellular signaling of the full-length protein. It also impairs correct targeting to the plasma membrane. Mutation of the analogous motif in Ste2 yielded similar results, suggesting a conserved mechanism for assembly. Using co-expression of the two fungal receptors in conjunction with computational models, we demonstrate a functional change in G protein specificity and propose that this is brought about through hetero-dimeric interactions of Mam2 with Ste2 via the complementary small-XXX-small motifs. This highlights the potential of these motifs to affect a range of properties that can be investigated in other GPCRs. Copyright © 2014. Published by Elsevier B.V.

  15. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY.

    PubMed

    Tartaglia, Nicole R; Ayari, Natalie; Hutaff-Lee, Christa; Boada, Richard

    2012-05-01

    Attentional problems, hyperactivity, and impulsivity have been described as behavioral features associated with sex chromosome aneuploidy (SCA). In this study, the authors compare attention-deficit hyperactivity disorder (ADHD) symptoms in 167 participants aged 6 to 20 years with 4 types of SCA (XXY n = 56, XYY n = 33, XXX n = 25, and XXYY n = 53). They also evaluate factors associated with ADHD symptomatology (cognitive and adaptive scores, prenatal vs postnatal ascertainment) and describe the clinical response to psychopharmacologic medications in a subset of patients treated for ADHD. Evaluation included medical and developmental history, cognitive and adaptive functioning assessment, and parent and teacher ADHD questionnaires containing DSM-IV criteria. In the total study group, 58% (96/167) met DSM-IV criteria for ADHD on parent-report questionnaires (36% in XXY, 52% in XXX, 76% in XYY, and 72% in XXYY). The Inattentive subtype was most common in XXY and XXX, whereas the XYY and XXYY groups were more likely to also have hyperactive/impulsive symptoms. There were no significant differences in Verbal, Performance, or Full Scale IQ between children with symptom scores in the ADHD range compared with those below the ADHD range. However, adaptive functioning scores were significantly lower in the group whose scores in the ADHD range were compared with those of the group who did not meet ADHD DSM-IV criteria. Those with a prenatal diagnosis of XXY were less likely to meet criteria for ADHD compared with the postnatally diagnosed group. Psychopharmacologic treatment with stimulants was effective in 78.6% (66/84). Children and adolescents with SCA are at increased risk for ADHD symptoms. Recommendations for ADHD evaluation and treatment in consideration of other aspects of the SCA medical and behavioral phenotype are provided.

  16. Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

    PubMed Central

    Tartaglia, Nicole R.; Ayari, Natalie; Hutaff-Lee, Christa; Boada, Richard

    2012-01-01

    Objective Attentional problems, hyperactivity, and impulsivity have been described as behavioral features associated with sex chromosome aneuploidy (SCA). In this study, the authors compare attention-deficit hyperactivity disorder (ADHD) symptoms in 167 participants aged 6 to 20 years with 4 types of SCA (XXY n = 56, XYY n = 33, XXX n = 25, and XXYY n = 53). They also evaluate factors associated with ADHD symptomatology (cognitive and adaptive scores, prenatal vs postnatal ascertainment) and describe the clinical response to psychopharmacologic medications in a subset of patients treated for ADHD. Methods Evaluation included medical and developmental history, cognitive and adaptive functioning assessment, and parent and teacher ADHD questionnaires containing DSM-IV criteria. Results In the total study group, 58% (96/167) met DSM-IV criteria for ADHD on parent-report questionnaires (36% in XXY, 52% in XXX, 76% in XYY, and 72% in XXYY). The Inattentive subtype was most common in XXY and XXX, whereas the XYY and XXYY groups were more likely to also have hyperactive/impulsive symptoms. There were no significant differences in Verbal, Performance, or Full Scale IQ between children with symptom scores in the ADHD range compared with those below the ADHD range. However, adaptive functioning scores were significantly lower in the group whose scores in the ADHD range were compared with those of the group who did not meet ADHD DSMIV criteria. Those with a prenatal diagnosis of XXY were less likely to meet criteria for ADHD compared with the postnatally diagnosed group. Psychopharmacologic treatment with stimulants was effective in 78.6% (66/84). Conclusions Children and adolescents with SCA are at increased risk for ADHD symptoms. Recommendations for ADHD evaluation and treatment in consideration of other aspects of the SCA medical and behavioral phenotype are provided. PMID:22333574

  17. The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY.

    PubMed

    Sasidhar, Manda V; Itoh, Noriko; Gold, Stefan M; Lawson, Gregory W; Voskuhl, Rhonda R

    2012-08-01

    Many autoimmune diseases are characterised by a female predominance. This may be caused by sex hormones, sex chromosomes or both. This report uses a transgenic mouse model to investigate how sex chromosome complement, not confounded by differences in gonadal type, might contribute to lupus pathogenesis. Transgenic NZM2328 mice were created by deletion of the Sry gene from the Y chromosome, thereby separating genetic from gonadal sex. Survival, renal histopathology and markers of immune activation were compared in mice carrying the XX versus the XY(-) sex chromosome complement, with each genotype being ovary bearing. Mice with XX sex chromosome complement compared with XY(-) exhibited poorer survival rates and increased kidney pathology. Splenic T lymphocytes from XX mice demonstrated upregulated X-linked CD40 ligand expression and higher levels of activation markers ex vivo. Increased MMP, TGF and IL-13 production was found, while IL-2 was lower in XX mice. An accumulation of splenic follicular B cells and peritoneal marginal zone B cells was observed, coupled with upregulated costimulatory marker expression on B cells in XX mice. These data show that the XX sex chromosome complement, compared with XY(-), is associated with accelerated spontaneous lupus.

  18. Increased HDL cholesterol levels in mice with XX versus XY sex chromosomes

    PubMed Central

    Link, Jenny C.; Chen, Xuqi; Prien, Christopher; Borja, Mark S.; Hammerson, Bradley; Oda, Michael N.; Arnold, Arthur P.; Reue, Karen

    2015-01-01

    Objective The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. Approach and Results We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the Four Core Genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male–female gonadal sex and XX–XY chromosome complement. Gonadectomy of adult mice revealed that the male–female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male–female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared to a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with two X chromosomes compared to mice with an X and Y chromosome. By generating mice with XX, XY and XXY chromosome complements, we determined that the presence of two X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. Conclusions We demonstrate that having two X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. PMID:26112012

  19. Long-distance entanglement and quantum teleportation in XX spin chains

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Campos Venuti, L.; Giampaolo, S. M.; CNR-INFM Coherentia, Napoli

    2007-11-15

    Isotropic XX models of one-dimensional spin-1/2 chains are investigated with the aim to elucidate the formal structure and the physical properties that allow these systems to act as channels for long-distance, high-fidelity quantum teleportation. We introduce two types of models: (i) open, dimerized XX chains, and (ii) open XX chains with small end bonds. For both models we obtain the exact expressions for the end-to-end correlations and the scaling of the energy gap with the length of the chain. We determine the end-to-end concurrence and show that model (i) supports true long-distance entanglement at zero temperature, while model (ii) supportsmore » 'quasi-long-distance' entanglement that slowly falls off with the size of the chain. Due to the different scalings of the gaps, respectively exponential for model (i) and algebraic in model (ii), we demonstrate that the latter allows for efficient qubit teleportation with high fidelity in sufficiently long chains even at moderately low temperatures.« less

  20. Singularities of the dynamical structure factors of the spin-1/2 XXX chain at finite magnetic field.

    PubMed

    Carmelo, J M P; Sacramento, P D; Machado, J D P; Campbell, D K

    2015-10-14

    We study the longitudinal and transverse spin dynamical structure factors of the spin-1/2 XXX chain at finite magnetic field h, focusing in particular on the singularities at excitation energies in the vicinity of the lower thresholds. While the static properties of the model can be studied within a Fermi-liquid like description in terms of pseudoparticles, our derivation of the dynamical properties relies on the introduction of a form of the 'pseudofermion dynamical theory' (PDT) of the 1D Hubbard model suitably modified for the spin-only XXX chain and other models with two pseudoparticle Fermi points. Specifically, we derive the exact momentum and spin-density dependences of the exponents ζ(τ)(k) controlling the singularities for both the longitudinal (τ = l) and transverse (τ = t) dynamical structure factors for the whole momentum range k ∈ ]0,π[, in the thermodynamic limit. This requires the numerical solution of the integral equations that define the phase shifts in these exponents expressions. We discuss the relation to neutron scattering and suggest new experiments on spin-chain compounds using a carefully oriented crystal to test our predictions.

  1. Singularities of the dynamical structure factors of the spin-1/2 XXX chain at finite magnetic field

    NASA Astrophysics Data System (ADS)

    Carmelo, J. M. P.; Sacramento, P. D.; Machado, J. D. P.; Campbell, D. K.

    2015-10-01

    We study the longitudinal and transverse spin dynamical structure factors of the spin-1/2 XXX chain at finite magnetic field h, focusing in particular on the singularities at excitation energies in the vicinity of the lower thresholds. While the static properties of the model can be studied within a Fermi-liquid like description in terms of pseudoparticles, our derivation of the dynamical properties relies on the introduction of a form of the ‘pseudofermion dynamical theory’ (PDT) of the 1D Hubbard model suitably modified for the spin-only XXX chain and other models with two pseudoparticle Fermi points. Specifically, we derive the exact momentum and spin-density dependences of the exponents {{\\zeta}τ}(k) controlling the singularities for both the longitudinal ≤ft(τ =l\\right) and transverse ≤ft(τ =t\\right) dynamical structure factors for the whole momentum range k\\in ]0,π[ , in the thermodynamic limit. This requires the numerical solution of the integral equations that define the phase shifts in these exponents expressions. We discuss the relation to neutron scattering and suggest new experiments on spin-chain compounds using a carefully oriented crystal to test our predictions.

  2. Increased high-density lipoprotein cholesterol levels in mice with XX versus XY sex chromosomes.

    PubMed

    Link, Jenny C; Chen, Xuqi; Prien, Christopher; Borja, Mark S; Hammerson, Bradley; Oda, Michael N; Arnold, Arthur P; Reue, Karen

    2015-08-01

    The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the four core genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male-female gonadal sex and XX-XY chromosome complement. Gonadectomy of adult mice revealed that the male-female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male-female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared with a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with 2 X chromosomes compared with mice with an X and Y chromosome. By generating mice with XX, XY, and XXY chromosome complements, we determined that the presence of 2 X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. We demonstrate that having 2 X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. © 2015 American Heart Association, Inc.

  3. Characterising ductility of 6xxx-series aluminium sheet alloys at combined loading conditions

    NASA Astrophysics Data System (ADS)

    Henn, Philipp; Liewald, Mathias; Sindel, Manfred

    2017-10-01

    This paper presents a new approach to characterise material ductility when combined, three dimensional loading conditions occurring during vehicle crash are applied. So called "axial crush test" of closed hat sections is simplified by reducing it down to a two-dimensional testing procedure. This newly developed edge-compression test (ECT) provides the opportunity to investigate a defined characteristic axial folding behaviour of a profile edge. The potential to quantify and to differentiate crashworthiness of material by use of new edge-compression test is investigated by carrying out experimental studies with two different 6xxx-aluminium sheet alloys.

  4. Energies, Wavelengths, and Transition Rates for Ga-Like Ions (Nd XXX-Tb XXXV)

    NASA Astrophysics Data System (ADS)

    El-Sayed, Fatma; Attia, S. M.

    2016-03-01

    Energies, wavelengths, transition probabilities, oscillator strengths, and line strengths have been calculated for 4s24p-4s4p2 and 4s24p-4s24d transitions in gallium-like ions from Z = 60 to 65, for Nd XXX, Pm XXXI, Sm XXXII, Eu XXXIII, Gd XXXIV, and Tb XXXV using the fully relativistic multiconfi guration Dirac-Fock method. The correlation with the n = 4 complex and the quantum electrodynamic effects have been considered in the calculations. The obtained results have been compared with the available experimental and other theoretical results.

  5. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

    PubMed Central

    LEGGETT, VICTORIA; JACOBS, PATRICIA; NATION, KATE; SCERIF, GAIA; BISHOP, DOROTHY V M

    2010-01-01

    Aim To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Interpretation Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples. PMID:20059514

  6. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review.

    PubMed

    Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V M

    2010-02-01

    To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples.

  7. 49 CFR 1242.74 - Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and...

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). 1242.74 Section 1242.74 Transportation Other... loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). These accounts pertain...

  8. First Annual Report to Congress on Title XX of the Social Security Act.

    ERIC Educational Resources Information Center

    Department of Health, Education, and Welfare, Washington, DC.

    This annual report to Congress on Title XX of the Social Security Act reports on the operation of the 1976 fiscal year program. Preceding the report are descriptive highlights of the program. Title XX of the Social Security Act changes the role and relationships of the Department of Health, Education, and Welfare; the individual states; and…

  9. Gender reversal in 46XX congenital virilizing adrenal hyperplasia.

    PubMed

    Sripathi, V; Ahmed, S; Sakati, N; al-Ashwal, A

    1997-05-01

    To review the results of gender reversal in six patients with 46XX congenital virilizing adrenal hyperplasia (CVAH). Fifty-one patients with 46XX CVAH were seen in an 8 year period; 45 were managed by conventional feminizing genitoplasty, but six underwent gender reversal and were managed as males. The clinical decision for gender reversal was made after appropriate counselling and was based primarily on parental choice, this being influenced significantly by a delayed diagnosis in four patients. Surgical management consisted of gonadectomy, excision of Müllerian structures and staged hypospadias repair/ chordee correction in four patients, and circumcision in two completely masculinized children. All six boys are well adjusted to their gender of rearing, with ages ranging from 3 years to 16.5 years (mean 8.5) at the time of review. Two children have normal penises and four have a satisfactory result after two-stage repair of hypospadias/chordee. Most patients with 46XX CVAH are preferably raised as females and require a feminizing genitoplasty. However, the clinical decision may be influenced by many factors, including delay in diagnosis, social bias and the premium on male rearing in certain communities. When male rearing is chosen, early gonadectomy and excision of Müllerian structures, together with staged hypospadias repair, gives satisfactory results.

  10. Obtaining highly excited eigenstates of the localized XX chain via DMRG-X.

    PubMed

    Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A; Sondhi, S L

    2017-12-13

    We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition.This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'. © 2017 The Author(s).

  11. The first case of 38,XX (SRY-positive) disorder of sex development in a cat.

    PubMed

    Szczerbal, Izabela; Stachowiak, Monika; Dzimira, Stanislaw; Sliwa, Krystyna; Switonski, Marek

    2015-01-01

    SRY-positive XX testicular disorder of sex development (DSD) caused by X;Y translocations was not yet reported in domestic animals. In humans it is rarely diagnosed and a majority of clinical features resemble those which are typical for Klinefelter syndrome (KS). Here we describe the first case of SRY-positive XX DSD in a tortoiseshell cat with a rudimentary penis and a lack of scrotum. Molecular analysis showed the presence of two Y-linked genes (SRY and ZFY) and a normal sequence of the SRY gene. Application of classical cytogenetic techniques revealed two X chromosomes (38,XX), but further FISH studies with the use of the whole X chromosome painting probe and BAC probes specific to the Yp chromosome facilitated identification of Xp;Yp translocation. The SRY gene was localised at a distal position of Xp. The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative X(SRY) chromosome. Our study showed that among DSD tortoiseshell cats, apart from XXY trisomy and XX/XY chimerism, also SRY-positive XX cases may occur. It is hypothesized that the extremely rare occurrence of this abnormality in domestic animals, when compared with humans, may be associated with a different organisation of the Yp arm in these species.

  12. Conducting Slug Tests in Mini-Piezometers: B.G. Fritz Ground Water xx, no. x: x-xx

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fritz, Bradley G.; Mackley, Rob D.; Arntzen, Evan V.

    Slug tests performed using mini-piezometers with diameters as small as 0.43 cm can provide a cost effective tool for hydraulic characterization. We evaluated the hydraulic properties of the apparatus in an infinite hydraulic conductivity environment and compared those results with field tests of mini-piezometers installed into locations with varying hydraulic properties. Based on our evaluation, slug tests conducted in mini-piezometers using the fabrication and installation approach described here are effective within formations where the hydraulic conductivity is less than 1 x 10-3 cm/s. While these constraints limit the potential application of this method, the benefits to this approach are thatmore » the installation, measurement and analysis is extremely cost effective, and the installation can be completed in areas where other (larger diameter) methods might not be possible. Additionally, this methodology could be applied to existing mini-piezometers previously installed for other purposes. Such analysis of existing installations could be beneficial in interpreting previously collected data (e.g. water quality data or hydraulic head data).« less

  13. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

    PubMed

    Grinspon, Romina P; Rey, Rodolfo A

    2016-01-01

    Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed. © 2016 S. Karger AG, Basel.

  14. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

    PubMed

    Weinberg-Shukron, Ariella; Renbaum, Paul; Kalifa, Rachel; Zeligson, Sharon; Ben-Neriah, Ziva; Dreifuss, Amatzia; Abu-Rayyan, Amal; Maatuk, Noa; Fardian, Nilly; Rekler, Dina; Kanaan, Moien; Samson, Abraham O; Levy-Lahad, Ephrat; Gerlitz, Offer; Zangen, David

    2015-11-02

    Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of Palestinian origin, in which 4 females exhibited XX-GD. Using homozygosity mapping and whole-exome sequencing, we identified a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. NUP107 is a component of the nuclear pore complex, and the NUP107-associated protein SEH1 is required for oogenesis in Drosophila. In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile. Transgenic rescue of Drosophila females bearing the Nup107D364N mutation, which corresponds to the human NUP107 (p.D447N), resulted in almost complete sterility, with a marked reduction in progeny, morphologically aberrant eggshells, and disintegrating egg chambers, indicating defective oogenesis. These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.

  15. XY females do better than the XX in the African pygmy mouse, Mus minutoides.

    PubMed

    Saunders, Paul A; Perez, Julie; Rahmoun, Massilva; Ronce, Ophélie; Crochet, Pierre-André; Veyrunes, Frédéric

    2014-07-01

    All therian mammals have a similar XY/XX sex-determination system except for a dozen species. The African pygmy mouse, Mus minutoides, harbors an unconventional system in which all males are XY, and there are three types of females: the usual XX but also XX* and X*Y ones (the asterisk designates a sex-reversal mutation on the X chromosome). The long-term evolution of such a system is a paradox, because X*Y females are expected to face high reproductive costs (e.g., meiotic disruption and loss of unviable YY embryos), which should prevent invasion and maintenance of a sex-reversal mutation. Hence, mechanisms for compensating for the costs could have evolved in M. minutoides. Data gathered from our laboratory colony revealed that X*Y females do compensate and even show enhanced reproductive performance in comparison to the XX and XX*; they produce significantly more offspring due to (i) a higher probability of breeding, (ii) an earlier first litter, and (iii) a larger litter size, linked to (iv) a greater ovulation rate. These findings confirm that rare conditions are needed for an atypical sex-determination mechanism to evolve in mammals, and provide valuable insight into understanding modifications of systems with highly heteromorphic sex chromosomes. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  16. [Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

    PubMed

    Qin, X Y; Dong, W K; Wang, W; Dong, Z Y; Xiao, Y; Lu, W L; Wang, D F

    2016-11-02

    Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. Conclusion: The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.

  17. Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

    PubMed

    Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

    2017-12-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

  18. Algebraic Bethe ansatz for the XXX chain with triangular boundaries and Gaudin model

    NASA Astrophysics Data System (ADS)

    Cirilo António, N.; Manojlović, N.; Salom, I.

    2014-12-01

    We implement fully the algebraic Bethe ansatz for the XXX Heisenberg spin chain in the case when both boundary matrices can be brought to the upper-triangular form. We define the Bethe vectors which yield the strikingly simple expression for the off shell action of the transfer matrix, deriving the spectrum and the relevant Bethe equations. We explore further these results by obtaining the off shell action of the generating function of the Gaudin Hamiltonians on the corresponding Bethe vectors through the so-called quasi-classical limit. Moreover, this action is as simple as it could possibly be, yielding the spectrum and the Bethe equations of the Gaudin model.

  19. A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

    PubMed

    Yıldırım, Şule; Topaloğlu, Naci; Tekin, Mustafa; Sılan, Fatma

    2017-10-01

    We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.

  20. Thermal Exposure and Environment Effects on Tension, Fracture and Fatigue of 5XXX Alloys Tested in Different Orientations

    DTIC Science & Technology

    2017-12-27

    were determined and the effects of changes in loading rate and solution on this susceptibility were determined. Technical Approach The technical... approach followed in this completed work has been to conduct quasi- static fracture and fatigue experiments on 5XXX commercial aluminum alloys of interest...Metallic Materials Studied by Correlative Tomography", in 38th Riso International Symposium on Materials Science - IOP Conf. Series: Materials Science

  1. 46 XX karyotype during male fertility evaluation; case series and literature review

    PubMed Central

    Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

    2017-01-01

    Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption. PMID:27297128

  2. 46 XX karyotype during male fertility evaluation; case series and literature review.

    PubMed

    Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

    2017-01-01

    Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

  3. A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

    PubMed

    Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

    2016-01-01

    46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

  4. Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

    PubMed

    Lathi, Ruth B; Gustin, Stephanie L F; Keller, Jennifer; Maisenbacher, Melissa K; Sigurjonsson, Styrmir; Tao, Rosina; Demko, Zach

    2014-01-01

    To examine the rate of maternal contamination in miscarriage specimens. Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC). Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory. Women with pregnancy loss who desire complete chromosome analysis of the pregnancy tissue. Analysis of miscarriage specimens using single-nucleotide polymorphism (SNP) microarray technology with bioinformatics program to detect maternal cell contamination. Chromosome content of miscarriages and incidence of 46,XX results due to MCC. Of the 1,222 samples analyzed, 592 had numeric chromosomal abnormalities, and 630 were normal 46,XX or 46,XY (456 and 187, respectively). In 269 of the 46,XX specimens, MCC with no embryonic component was found. With the exclusion of maternal 46,XX results, the chromosomal abnormality rate increased from 48% to 62%, and the ratio for XX to XY results dropped from 2.6 to 1.0. Over half of the normal 46,XX results in miscarriage specimens were due to MCC. The use of SNPs in MCC testing allows for precise identification of chromosomal abnormalities in miscarriage as well as MCC, improving the accuracy of products of conception testing. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Water-resources investigations in North Dakota; fiscal year 1984

    USGS Publications Warehouse

    Hall, L.A.; Kuzniar, R.K.

    1984-01-01

    The U.S. Geological Survey, through its Water Resources Division, investigates the occurrence, quantity, quality, distribution, and movement of the surface and underground water that composes the Nation's water resources. This publication contains a brief description of the ongoing investigations of the North Dakota District.Much of the Geological Survey program is conducted in cooperation with other Federal agencies and several state agencies. The publications resulting from the program are listed periodically in a miscellaneous release titled, "Water Resources Investigations of the U.S. Geological Survey, 19XX." The last such release was issued in 1982. They are also listed in a monthly nationwide release titled, "New Publications of the Geological Survey, List XXX--Publications issued in month 19XX."

  6. Irritability and Parenting Styles in Adolescents With Attention-Deficit/Hyperactivity Disorder: A Controlled Study.

    PubMed

    Uçar, Halit Necmi; Vural, Ayşe Pınar

    2018-04-17

    Attention-deficit/hyperactivity disorder (ADHD) affects functioning of the family, decreasing interactions and loyalty and increasing conflict between adolescents with ADHD and their families. Irritable mood and difficulties with emotional dysregulation are common in children with ADHD. The objective of the current study was to assess levels of irritability in adolescents with ADHD using self- and parent-report scales, and investigate the relationship between irritability levels and parental attitudes. A total of 47 adolescents with ADHD and 39 adolescents with typical development participated in the current study. Findings demonstrated that higher levels of parent-reported irritability were associated with decreased egalitarian attitudes in the ADHD group. Although other parental attitudes were not associated with self- and parent-reported irritability, evaluation of the relationship between parental attitudes and irritability in adolescents with ADHD, which can guide diagnosis and treatment of ADHD, is of critical importance. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  7. Negotiating Risky Preferences in Nursing Homes: A Case Study of the Rothschild Person-Centered Care Planning Approach.

    PubMed

    Behrens, Liza; Van Haitsma, Kimberly; Brush, Jennifer; Boltz, Marie; Volpe, Donna; Kolanowski, Ann Marie

    2018-01-16

    Delivering person-centered care (PCC) is no longer an option for nursing homes (NH) that receive funding from the Centers for Medicare & Medicaid Services. NH staff need evidence-based protocols to guide efforts in honoring preferred choices of residents, especially those that are perceived to be risky. The Rothschild Care Planning Process for Resident Choice was created to honor such choices. The current article provides a case exemplar to demonstrate the use of the Rothschild Care Planning Process for Resident Choice with one NH resident who was perceived by staff to be making a risky choice. The scenario outlines six steps to the process, highlighting areas for focus and documentation that addresses complexities and best practices in delivering PCC. Three recommendations are offered to address residents' choices that carry risk: (a) adapt care community policies, (b) engage direct care staff in care planning, and (c) provide staff training in facilitating resident choice. [Journal of Gerontological Nursing, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  8. Degree of Anger During Anger-Generating Situations Among Psychiatric Staff Nurses: Association Between Nurses' Attitudes Toward Service Users' Aggression and Confidence in Intervening in Aggressive Situations.

    PubMed

    Shimosato, Seiji; Kinoshita, Aimi

    2018-04-17

    Some situations require psychiatric staff nurses to respond to service users' negativity or aggression. As a result, psychiatric staff nurses may experience anger. The current study examined how anger levels of psychiatric staff nurses triggered by anger-generating situations by service users affected nurses' confidence and attitudes. A questionnaire survey was administered among 386 psychiatric staff nurses. The questionnaire surveyed anger levels in anger-generating situations, aggressiveness, nurses' attitudes toward aggression, and self-efficacy of intervening in aggressive situations. Path analysis revealed differences between male and female nurses. Male nurses' anger in response to physical aggression was mild when they were confident in handling aggression. Furthermore, female nurses who had high confidence in intervening in an aggressive situation had low anger levels. Confidence in intervening in aggressive situations appeared to dissipate anger and ease nurses during aggressive interactions. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  9. Implementation of Trauma-Informed Care and Brief Solution-Focused Therapy: A Quality Improvement Project Aimed at Increasing Engagement on an Inpatient Psychiatric Unit.

    PubMed

    Aremu, Babatunde; Hill, Pamela D; McNeal, Joanne M; Petersen, Mary A; Swanberg, Debbie; Delaney, Kathleen R

    2018-03-14

    Addressing tense and escalating situations with noncoercive measures is an important element of inpatient psychiatric treatment. Although restraint rates are frequently monitored, the use of pro re nata (PRN) intramuscular (IM) injections to address agitation is also an important indicator. In 2015, at the current study site, a significant increase was noted in PRN IM medication use despite unit leadership's efforts to build a culture of trauma-informed care (TIC). The purpose of the current quality improvement project was to educate staff on methods to incorporate TIC into daily practice and the use of brief solution-focused therapy techniques in escalating situations. Measurement of attitudes toward patient aggression and engagement with patients followed two waves of staff education. Upon completion of the project, a decrease in PRN IM medications, improvement in staff attitudes toward patient aggression, and improved sense of staff competency in handling tense situations were noted. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  10. Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

    PubMed

    Butnariu, Lăcrămioara; Rusu, Cristina; Caba, Lavinia; Pânzaru, Monica; Braha, Elena; Grămescu, Mihaela; Popescu, Roxana; Bujoranu, C; Gorduza, E V

    2013-01-01

    Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with uncharacteristic facial dysmorphism, mild mental retardation with behavioral disorders, plus clinical signs of ovarian dysgenesis, postpubertal. We analyzed retrospectively the genotype - phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype). Analysis of the clinical data of 36 patients diagnosed with trisomy X and correlation with the results of X chromatin and karyotype. Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis (secondary amenorrhea, early menopause). The phenotype of patients with different gonosomal mosaic corresponding to Turner syndrome, incorporating a cell line with trisomy X (55.55%) was variable, correlated with the type of chromosomal abnormalities detected. The results of our study are similar to those obtained in other studies and emphasizes that phenotypic variability of patients with trisomy X feature makes it difficult to genotype - phenotype correlations.

  11. Services to Status Offenders and Delinquents under Title XX.

    ERIC Educational Resources Information Center

    Nelson, Gary M.

    1982-01-01

    Found that states prohibiting institutionalization of status offenders and juvenile delinquents were no more likely to provide high levels of child foster care and protective services under Title XX than states not prohibiting institutionalization. (Author)

  12. Molecular mechanisms associated with 46,XX disorders of sex development.

    PubMed

    Knarston, Ingrid; Ayers, Katie; Sinclair, Andrew

    2016-03-01

    In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development. © 2016 Authors; published by Portland Press Limited.

  13. A fiber-coupled 9xx module with tap water cooling

    NASA Astrophysics Data System (ADS)

    Schleuning, D.; Anthon, D.; Chryssis, A.; Ryu, G.; Liu, G.; Winhold, H.; Fan, L.; Xu, Z.; Tanbun-Ek, T.; Lehkonen, S.; Acklin, B.

    2016-03-01

    A novel, 9XX nm fiber-coupled module using arrays of highly reliable laser diode bars has been developed. The module is capable of multi-kW output power in a beam parameter product of 80 mm-mrad. The module incorporates a hard-soldered, isolated stack package compatible with tap-water cooling. Using extensive, accelerated multi-cell life-testing, with more than ten million device hours of test, we have demonstrated a MTTF for emitters of >500,000 hrs. In addition we have qualified the module in hard-pulse on-off cycling and stringent environmental tests. Finally we have demonstrated promising results for a next generation 9xx nm chip design currently in applications and qualification testing

  14. High temperature increases the masculinization rate of the all-female (XX) rainbow trout "Mal" population.

    PubMed

    Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

    2014-01-01

    Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species.

  15. Ten cases with 46,XX testicular disorder of sex development: single center experience.

    PubMed

    Akinsal, Emre Can; Baydilli, Numan; Demirtas, Abdullah; Saatci, Cetin; Ekmekcioglu, Oguz

    2017-01-01

    To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies. Copyright® by the International Brazilian Journal of Urology.

  16. 76 FR 57767 - Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-16

    ... NUCLEAR REGULATORY COMMISSION [NRC-2011-0204] Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for Operating Reactors AGENCY: Nuclear Regulatory Commission... FR 54507), that requested public comment on Draft NRC Generic Letter 2011- XX: Seismic Risk...

  17. Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

    PubMed

    Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

    2015-02-01

    The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  18. Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

    PubMed

    Cassia Amaral, Rita; Inacio, Marlene; Brito, Vinicius N; Bachega, Tania A S S; Oliveira, Ari A; Domenice, Sorahia; Denes, Francisco T; Sircili, Maria Helena; Arnhold, Ivo J P; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine M F; Mendonca, Berenice B

    2015-02-01

    Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD). Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre. Adult patients with DSD (56 patients with 46,XX DSD - 49 with female social sex and 7 with male social sex as well as 88 patients with 46,XY DSD - 54 with female social sex and 34 with male social sex). QoL using WHOQOL-Bref questionnaire. Both patients with 46,XX DSD and patients with 46,XY DSD had similar QoL scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. The chronological age at the start of treatment was negatively and significantly associated with general QoL score. Patients with male social sex DSD had better scores on the psychological domain than patients with female social sex DSD, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better QoL compared with the female social sex patients. There was a positive and significant correlation between sexual performance and general QoL, although it explained only 4% of the variability of the general QoL score. The most influencing variables were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general QoL score. Our large cohort of adult patients with DSD, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of patients with DSD, whereas sexual performance has little influence on QoL. © 2014 John Wiley & Sons Ltd.

  19. Defense Energy Information System (DEIS): DEIS-80 Design System Specification. Revision B,

    DTIC Science & Technology

    1982-07-01

    are samples of the queries that may be requested. - Display the data for DoDAAC = XXYMOX, Date = MMYY, Product Code = XXX. - What is the total...consumption in gallons. What is the percent change in total consumption (or average daily consumption) for Major Command = X---X, between this month and this...month a year ago (or this quarter and the previous 5 quarters) for distillates (or fuel oil)? What is the total consumption for each Service for the

  20. Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin.

    PubMed Central

    Surti, U; Hoffner, L; Chakravarti, A; Ferrell, R E

    1990-01-01

    One hundred and two benign, mature ovarian teratomas and two immature, malignant teratomas were karyotyped and scored for centromeric heteromorphisms as part of an ongoing project to determine the chromosomal karyotype and the genetic origin of ovarian teratomas and to assess their utility for gene-centromere mapping. Karyotypic analysis of the benign cases revealed 95 46,XX teratomas and 7 chromosomally abnormal teratomas (47,XXX, 47,XX,+8 [two cases], 47,XX,+15, 48,XX,+7,+12 91,XXXX,-13 [mosaic], 47,XX,-15,+21,+mar). Our study reports on the first cases of tetraploidy and structural rearrangement in benign ovarian teratomas. The two immature cases had modal chromosome numbers of 78 and 49. Centromeric heteromorphisms that were heterozygous in the host were homozygous in 65.2% (n = 58) of the benign teratomas and heterozygous in the remaining 34.8% (n = 31). Chromosome 13 heteromorphisms were the most informative, with 72.7% heterozygosity in hosts. The cytogenetic data indicate that 65% of teratomas are derived from a single germ cell after meiosis I and failure of meiosis II (type II) or endoreduplication of a mature ovum (type III); 35% arise by failure of meiosis I (type I) or mitotic division of premeiotic germ cells (type IV). Images Figure 1 PMID:2220805

  1. Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.

    PubMed

    Khattab, A; Yau, M; Qamar, A; Gangishetti, P; Barhen, A; Al-Malki, S; Mistry, H; Anthony, W; Toralles, M B; New, Maria I

    2017-01-01

    Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire. Gender role, sexual preference, marital status and sexual satisfaction were evaluated by interview. The three patients were genotyped for the CYP21A2 gene confirming the diagnosis of CAH. Owing to genital virilization, cultural preferences for male gender and the lack of newborn screening programs the three patients reported herein were assigned to the male gender at birth before the diagnosis of CAH was established. In adulthood the patients remained significantly virilized. Thorough psychosexual assessments in adulthood revealed well established male gender identities compatible with their male gender assignments at birth. In all three patients, gender role and behavior were consistent with male gender identity including sexual intercourse with female partners. The three patients reported herein revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care. No standard guidelines have been published for the gender assignment of CAH patients with a 46, XX karyotype and genital ambiguity. More studies concerning gender assignment in CAH patients with a 46, XX karyotype reared as males are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

    PubMed

    Moalem, Sharon; Babul-Hirji, Riyana; Stavropolous, Dmitri J; Wherrett, Diane; Bägli, Darius J; Thomas, Paul; Chitayat, David

    2012-07-01

    Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal. We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene. These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. Copyright © 2012 Wiley Periodicals, Inc.

  3. 8- to 13-micron spectroscopy of Comet Levy 1990 XX

    NASA Technical Reports Server (NTRS)

    Lynch, David K.; Russell, Ray W.; Hackwell, John A.; Hanner, Martha S.; Hammel, Heidi B.

    1992-01-01

    The results are reported of IR spectroscopy of Comet Levy 1990 XX over a three-day period when the comet was about 1.54 AU from the sun roughly 70 days before perihelion. Comet Levy 1990 XX was bright, and for at least part of its inbound journey toward perihelion, active. At a distance of 1.54 AU from the sun it showed strong structured silicate emission with peaks or shoulders at 9.8 and 11.2 microns. These features resemble those of Comets P/Halley and Bradfield 1987 XXIX. The comet was variable in brightness. Specifically, the contrast of the silicate features changed by a factor of two relative to the continuum level and showed some evidence for a shape change as well.

  4. High resolution X-ray spectra of solar flares. V - Interpretation of inner-shell transitions in Fe XX-Fe XXIII

    NASA Technical Reports Server (NTRS)

    Doschek, G. A.; Feldman, U.; Cowan, R. D.

    1981-01-01

    The paper examines high-resolution solar flare iron line spectra recorded between 1.82 and 1.97 A by a spectrometer flown by the Naval Research Laboratory on an Air Force spacecraft launched on 1979 February 24. The emission line spectrum is due to inner-shell transitions in the ions Fe XX-Fe XXV. Using theoretical spectra and calculations of line intensities obtained by methods discussed by Merts, Cowan, and Magee (1976), electron temperatures as a function of time for two large class X flares are derived. These temperatures are deduced from intensities of lines of Fe XXII, Fe XXIII, and Fe XXIV. The determination of the differential emission measure between about 12-million and 20-million K using these temperatures is considered. The possibility of determining electron densities in flare and tokamak plasmas using the inner-shell spectra of Fe XXI and Fe XX is discussed.

  5. Evolution of microstructure and precipitates in 2xxx aluminum alloy after severe plastic deformation

    NASA Astrophysics Data System (ADS)

    Adamczyk-Cieslak, B.; Zdunek, J.; Mizera, J.

    2016-04-01

    This paper investigates the influence of precipitation on the microstructure development in a 2xxx aluminum alloy subjected to hydrostatic extrusion. A three step reduction of the diameter was performed using hydrostatic extrusion (HE) process: from 20mm (initial state) to 10 mm, 5 mm and 3 mm, which corresponds to the logarithmic deformations ɛ = 1.4, ɛ = 2.8 and ɛ = 3.8 respectively. The microstructure and precipitation analysis before and after deformation was performed using transmission electron microscope (TEM), and scanning electron microscopy (SEM). As a result of the tests, a very significant influence of precipitation on the degree of refinement and mechanism of microstructure transformation was stated.

  6. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome.

    PubMed

    Aso, Keiko; Koto, Shinobu; Higuchi, Asako; Ariyasu, Daisuke; Izawa, Masako; Miyamoto Igaki, Junko; Hasegawa, Yukihiro

    2010-01-01

    The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes. Prepubertal gonadotropins of TS patients with spontaneous menarche are reportedly normal or significantly lower than those of patients with induced menarche. The present study investigated an index of spontaneous and cyclical menstruation at 10-12 years old in TS. Subjects comprised 50 patients with TS, divided into three groups: Group A (n=7), with spontaneous menarche before 16 years old and regular menstruation for at least 1 year and 6 months; Group B (n=6), with irregular menstruation since menarche leading to secondary amenorrhea despite spontaneous menarche before 16 years old; and Group C (n=37), without spontaneous breast budding before 14 years old or without spontaneous menarche before 16 years old. Karyotype, LH and FSH concentrations at 10 and 12 years old were analyzed retrospectively. Spontaneous and cyclical menstruation was more frequently observed in TS with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX than in TS with other karyotypes, as previously described. Spontaneous and cyclical menstruation in TS was observed when serum FSH level was <10 mIU/mL at 12 years old, suggesting this FSH level as an index of spontaneous and cyclical menstruation in TS.

  7. 46,XX T testicular disorder of sex development. Case report.

    PubMed

    Pastor Guzmán, José María; Pastor Navarro, Hector; Quintanilla Mata, María Luisa; Carrión López, Pedro; Martínez Ruíz, Jesús; Martínez Sanchiz, Carlos; Perán Teruel, Miguel; Virseda Rodríguez, Julio Antonio

    2011-06-01

    We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature. Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a cytogenetic study of peripheral blood (phytohemagglutinin-timulated lymphocyte culture over 72 hours). G-banding analysis of 25 metaphases showed a 46,XX chromosome constitution (46 chromosomes with XX sexual composition). Fluorescence in situ hybridization (FISH) analysis with probes for X centromeres and the sex-determining region of the Y chromosome (SRY) (testis-determining factor gene) showed two X chromosomes. The analysis also showed the SRY signal in the telomeric region of the short arm of one of the chromosomes. In recent years, a number of other genes involved in disorders of sex development in animals and humans have also been identified. Genetic defects in the peptide hormone receptors, members of the steroid receptor superfamily, and other transcription factors, as well as any of a series of enzymes and cofactors involved in steroid biosynthesis can cause abnormal determination and differentiation. Although chromosomal abnormalities are rarely present in patients with apparently normal external genitalia, they should be considered in urology consultations by adolescents and adults, particularly in the investigation of gynecomastia or infertility.

  8. High Temperature Increases the Masculinization Rate of the All-Female (XX) Rainbow Trout “Mal” Population

    PubMed Central

    Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

    2014-01-01

    Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species. PMID:25501353

  9. How to fold a spin chain: Integrable boundaries of the Heisenberg XXX and Inozemtsev hyperbolic models

    NASA Astrophysics Data System (ADS)

    De La Rosa Gomez, Alejandro; MacKay, Niall; Regelskis, Vidas

    2017-04-01

    We present a general method of folding an integrable spin chain, defined on a line, to obtain an integrable open spin chain, defined on a half-line. We illustrate our method through two fundamental models with sl2 Lie algebra symmetry: the Heisenberg XXX and the Inozemtsev hyperbolic spin chains. We obtain new long-range boundary Hamiltonians and demonstrate that they exhibit Yangian symmetries, thus ensuring integrability of the models we obtain. The method presented provides a ;bottom-up; approach for constructing integrable boundaries and can be applied to any spin chain model.

  10. Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

    PubMed

    Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

    2013-01-01

    Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

  11. Discordant sex in monozygotic XXY/XX twins: a case report.

    PubMed

    Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

    2014-12-01

    We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects. © The Author 2014. Published by Oxford University Press on

  12. Federal Funds for Research and Development: Fiscal Years 1980, 1981, and 1982. Volume XXX. Detailed Statistical Tables. Surveys of Science Resources Series.

    ERIC Educational Resources Information Center

    National Science Foundation, Washington, DC.

    During the March through July 1981 period a total of 36 Federal agencies and their subdivisions (95 individual respondents) submitted data in response to the Annual Survey of Federal Funds for Research and Development, Volume XXX, conducted by the National Science Foundation. The detailed statistical tables presented in this report were derived…

  13. Dynamical pairwise entanglement and two-point correlations in the three-ligand spin-star structure

    NASA Astrophysics Data System (ADS)

    Motamedifar, M.

    2017-10-01

    We consider the three-ligand spin-star structure through homogeneous Heisenberg interactions (XXX-3LSSS) in the framework of dynamical pairwise entanglement. It is shown that the time evolution of the central qubit ;one-particle; state (COPS) brings about the generation of quantum W states at periodical time instants. On the contrary, W states cannot be generated from the time evolution of a ligand ;one-particle; state (LOPS). We also investigate the dynamical behavior of two-point quantum correlations as well as the expectation values of the different spin-components for each element in the XXX-3LSSS. It is found that when a W state is generated, the same value of the concurrence between any two arbitrary qubits arises from the xx and yy two-point quantum correlations. On the opposite, zz quantum correlation between any two qubits vanishes at these time instants.

  14. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

    PubMed

    Igarashi, Maki; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Takada, Shuji; Miyado, Mami; Baba, Takashi; Morohashi, Ken-Ichirou; Tajima, Toshihiro; Hata, Kenichiro; Nakabayashi, Kazuhiko; Matsubara, Yoichi; Sekido, Ryohei; Ogata, Tsutomu; Kashimada, Kenichi; Fukami, Maki

    2017-01-01

    The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals. In silico analyses scored p.Arg92Trp as probably pathogenic. In vitro assays demonstrated that compared with wild-type NR5A1, the mutant protein was less sensitive to NR0B1-induced suppression on the SOX9 enhancer element. Other sequence variants found in the patients were unlikely to be associated with the phenotype. The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. © 2016 WILEY PERIODICALS, INC.

  15. Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome.

    PubMed

    Werler, Steffi; Poplinski, Andreas; Gromoll, Jörg; Wistuba, Joachim

    2011-06-01

    We hypothesized that patients with Klinefelter's syndrome (KS) not only undergo X inactivation, but also that genes escape from inactivation. Their transcripts would constitute a significant difference, as male metabolism is not adapted to a 'female-like' gene dosage. We evaluated the expression of selected X-linked genes in our 41, XX(Y)* male mice to determine whether these genes escape inactivation and whether tissue-specific differences occur. Correct X inactivation was identified by Xist expression. Relative expression of X-linked genes was examined in liver, kidney and brain tissue by real-time PCR in adult XX(Y)* and XY* males and XX females. Expression of genes known to escape X inactivation was analysed. Relative mRNA levels of Pgk1 (control, X inactivated), and the genes Eif2s3x, Kdm5c, Ddx3x and Kdm6a escaping from X inactivation were quantified from liver, kidney and brain. Pgk1 mRNA expression showed no difference, confirming correct X inactivation. In kidney and liver, XX(Y)* males resembled the female expression pattern in all four candidate genes and were distinguishable from XY* males. Contrastingly, in brain tissue XX(Y)* males expressed all four genes higher than male and female controls. Altered expression of genes escaping X inactivation probably contributes directly to the XX(Y)* phenotype. © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.

  16. The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

    PubMed

    Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

    2015-07-01

    Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

  17. Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.

    PubMed

    Vergara-Mendez, Laura Daniela; Talero-Gutiérrez, Claudia; Velez-Van-Meerbeke, Alberto

    2018-03-01

    We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).

  18. SU-E-T-472: Improvement of IMRT QA Passing Rate by Correcting Angular Dependence of MatriXX

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Chen, Q; Watkins, W; Kim, T

    2015-06-15

    Purpose: Multi-channel planar detector arrays utilized for IMRT-QA, such as the MatriXX, exhibit an incident-beam angular dependent response which can Result in false-positive gamma-based QA results, especially for helical tomotherapy plans which encompass the full range of beam angles. Although MatriXX can use with gantry angle sensor to provide automatically angular correction, this sensor does not work with tomotherapy. The purpose of the study is to reduce IMRT-QA false-positives by correcting for the MatriXX angular dependence. Methods: MatriXX angular dependence was characterized by comparing multiple fixed-angle irradiation measurements with corresponding TPS computed doses. For 81 Tomo-helical IMRT-QA measurements, two differentmore » correction schemes were tested: (1) A Monte-Carlo dose engine was used to compute MatriXX signal based on the angular-response curve. The computed signal was then compared with measurement. (2) Uncorrected computed signal was compared with measurements uniformly scaled to account for the average angular dependence. Three scaling factor (+2%, +2.5%, +3%) were tested. Results: The MatriXX response is 8% less than predicted for a PA beam even when the couch is fully accounted for. Without angular correction, only 67% of the cases pass the >90% points γ<1 (3%, 3mm). After full angular correction, 96% of the cases pass the criteria. Of three scaling factors, +2% gave the highest passing rate (89%), which is still less than the full angular correction method. With a stricter γ(2%,3mm) criteria, the full angular correction method was still able to achieve the 90% passing rate while the scaling method only gives 53% passing rate. Conclusion: Correction for the MatriXX angular dependence reduced the false-positives rate of our IMRT-QA process. It is necessary to correct for the angular dependence to achieve the IMRT passing criteria specified in TG129.« less

  19. A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice.

    PubMed

    Qin, Yangjun; Poirier, Christophe; Truong, Cavatina; Schumacher, Armin; Agoulnik, Alexander I; Bishop, Colin E

    2003-03-01

    We have previously reported a dominant mouse mutant, Odd sex (Ods), in which XX Ods/+ mice on the FVB/N background show complete sex reversal, associated with expression of Sox9 in the fetal gonads. Remarkably, when crossed to the A/J strain approximately 95% of the (AXFVB) F(1) XX Ods/+ mice developed as fully fertile, phenotypic females, the remainder developing as males or hermaphrodites. Using a (AXFVB) F(2) population, we conducted a genome-wide linkage scan to identify the number and chromosomal location of potential Ods modifier genes. A single major locus termed Odsm1 was mapped to chromosome 18, tightly linked to D18Mit189 and D18Mit210. Segregation at this locus could account for the presence of sex reversal in 100% of XX Ods/+ mice which develop as males, for the absence of sex reversal in approximately 92% of XX Ods/+ mice which develop as females, and for the mixed sexual phenotype in approximately 72% of XX Ods/+ mice that develop with ambiguous genitalia. We propose that homozygosity for the FVB-derived allele strongly favors Ods sex reversal, whereas homozygosity for the A/J-derived allele inhibits it. In mice heterozygous at Odsm1, the phenotypic outcome, male, female or hermaphrodite, is determined by a complex interaction of several minor modifying loci. The close proximity of Smad2, Smad7 and Smad4 to D18Mit189/210 provides a potential mechanism through which Odsm1 might act.

  20. Sex steroid levels in XY males and sex-reversed XX males, of rainbow trout (Oncorhynchus mykiss), during the reproductive cycle.

    PubMed

    Espinosa, E; Josa, A; Gil, L; González, N

    2011-02-01

    In this study, the annual cycle of the gonadal steroids testosterone (T), 11-ketotestosterone (11-KT), 17β-oestradiol (E2) and 17α, 20β-dihydroxy-4-pregnen-3-one (DHP) was determined using radioimmunoassay and then compared, for XY males (n=35) and sex-reversed XX males (n=27) rainbow trout, to establish possible endocrinology differences. Both in XY males and sex-reversed XX males, significant correlation was shown between body weight and T (r=0.5046 and 0.34078, respectively; p<0.0001) or KT (r=0.52494 and 0.43545, respectively; p<0.0001) concentrations. Plasma androgen levels in XY and sex-reversed XX males were similar and showed an intense seasonal variation. The highest levels for T and 11-KT were detected from December to April with a peak in January (51.67 ± 5.11 and 61.95 ± 4.25 ng/ml, for XY males and 57.1 ± 5.82 and 59.27 ± 4.84 ng/ml, respectively, for XX males). In addition, there was a positive correlation (p<0.0001) between T and 11-KT levels for XY males (r=0.7533) and sex-reversed XX males (r=0.6019). Concentrations of DHP in XY males also showed seasonal variation with a peak in February (25.18 ± 12.99 ng/ml). However, DHP levels in sex-reversed XX males were undetectable (<0.1 ng/ml) over the year. Levels of E2 were undetectable through the year in both groups of trout. In conclusion, the androgenic and oestrogenic profiles of sex-reversed XX males were similar to those observed in XY males. The only difference in the annual gonadal steroid cycle between XY and sex-reversed XX males was in the DHP profile. © 2009 Blackwell Verlag GmbH.

  1. 29. Coke oven byproduct building "XX" with ammonia stills; powerhouse ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    29. Coke oven by-product building "XX" with ammonia stills; powerhouse with 8 sisters (stacks) in background; conveyor #20 (with break) on right, pulevrized coal storage bunker on left. Looking north/northwest - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

  2. Exact valence bond entanglement entropy and probability distribution in the XXX spin chain and the potts model.

    PubMed

    Jacobsen, J L; Saleur, H

    2008-02-29

    We determine exactly the probability distribution of the number N_(c) of valence bonds connecting a subsystem of length L>1 to the rest of the system in the ground state of the XXX antiferromagnetic spin chain. This provides, in particular, the asymptotic behavior of the valence-bond entanglement entropy S_(VB)=N_(c)ln2=4ln2/pi(2)lnL disproving a recent conjecture that this should be related with the von Neumann entropy, and thus equal to 1/3lnL. Our results generalize to the Q-state Potts model.

  3. Smartphone Addiction and School Life Adjustment Among High School Students: The Mediating Effect of Self-Control.

    PubMed

    Heo, YoungJin; Lee, Kyunghee

    2018-05-08

    Previous studies have reported associations among smartphone addiction, school adjustment, and self-control. However, the causal relationship between smartphone addiction and school adjustment has not been clearly demonstrated. The current study examined the association between smartphone addiction and school adjustment and investigated the mediating effect of self-control in this association. A total of 790 students from five high schools in Daegu City, South Korea, were asked to provide demographic information and complete a self-diagnostic smartphone addiction scale and validated Korean version of a self-control scale. Among at-risk students, self-control did not mediate the relation between smartphone addiction and school adjustment; among those not at risk, there was a partial mediating effect. To improve school adjustment among high school students, prevention of smartphone addiction seems important. Smartphone addiction could be managed by strengthening self-control to promote healthy use of smartphones. The current results can serve as groundwork for the development of programs to improve school adjustment among high school students. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  4. Longitudinal Effects of Activities, Social Environment, and Psychotropic Medication Use on Behavioral Symptoms of Individuals With Alzheimer's Disease in Nursing Homes.

    PubMed

    Inventor, Ben R; Farran, Carol J; Paun, Olimpia; Cothran, Fawn; Rajan, Kumar; Swantek, Sandra S; McCann, Judith J

    2018-05-08

    A secondary data analysis of 25,560 minutes of structured clinical observations from a longitudinal study examined the impact of time-varying background factors, social environment, and psychotropic medication use on behavioral symptoms of nursing home residents with Alzheimer's disease (AD). Data were collected at baseline (N = 177), 12 months (N = 138), and 24 months (N = 111). Mixed-effects regression modeling showed that at 24 months: (a) higher cognitive and physical function and having a private bedroom/bathroom had the most positive influence on resident positive behaviors; (b) use of antipsychotic medications and solitary activities had the most negative influence on resident positive behaviors; (c) higher cognitive function significantly decreased negative behaviors; and (d) care-related activities and total number of psychotropic medications significantly increased negative behaviors. The current study describes risk factors for behavioral disturbances and the impact of activities, social environment, and psychotropic medications on behavioral outcomes in nursing home residents with AD. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  5. Lean Perspectives: A Case for Implementing Parent-Child Relational Problem Screening.

    PubMed

    Okeoma, Bryson C

    2018-04-17

    The purpose of the current study was to make a case for instituting parent-child relational problem (PCRP) screening as a standard of care in pediatric inpatient psychiatric units due to increasing evidence that PCRP may be an underreported problem that affects more adolescents than currently realized. Adolescents who are admitted to the hospital for mood exacerbation, suicidal ideation, self-harm behavior, or behavioral escalation may improve and be discharged. However, these adolescents often are readmitted, which may be associated with parent-child relational factors. By identifying adolescents with PCRP and initiating holistic therapy/intervention that addresses the underlying cause of their PCRP, it may be possible to improve the parent-adolescent relationship and break the cycle of admission, discharge, and readmission. PCRP is increasingly recognized as a risk factor for development and progression of childhood mental illnesses. Investment in screening and treatment for PCRP may result in significant cost savings from prevention or reduction of rehospitalization and/or amelioration of disability. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  6. Does 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI?

    PubMed

    Homer, L; Morel, F; Gallon, F; Le Martelot, M-T; Amice, V; Kerlan, V; De Braekeleer, M

    2012-07-01

    Several studies have shown an increased frequency of chromosomal aberrations in female partners of couples examined prior to intracytoplasmic sperm injection (ICSI). A retrospective cohort study was performed to determine whether 45,X/46,XX mosaicism affects the outcomes of in vitro fertilization (IVF) or ICSI. Forty-six women with a 45,X/46,XX karyotype with 6-28% of aneuploidy were compared with 59 control women (46,XX), matched for age, from the female population who underwent IVF or ICSI between 1 January 1996 and 31 December 2006 at the Reproductive Medicine Unit at Brest University Hospital. The outcomes of 254 treatment cycles were compared according to patient karyotype. No difference was found in the number of retrieved oocytes (8.9 ± 5.5 vs 8.5 ± 4.7; p=0.56) or the number of mature oocytes (7.4 ± 4.7 vs 6.9 ± 4.2; p=0.49) between the 45,X/46,XX group and the 46,XX group, respectively. Fertilization rates did not differ between the groups for either IVF or ICSI. In addition, no difference was found in the pregnancy rate by cycle (17.4% vs 18.7%, respectively; p=0.87). The percentage of first-trimester miscarriages was similar in both groups (13.6% vs 12.5%, respectively; p=0.51). 45,X/46,XX mosaicism with 6-28% of aneuploidy has no adverse effect on the outcomes of IVF or ICSI among women referred to assisted reproductive technologies. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. 49 CFR 1242.51 - Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00). 1242.51 Section 1242.51 Transportation Other Regulations Relating to... (accounts XX-27-39 and 62-27-00). Separate common expenses in proportion to the separation of common repair...

  8. 49 CFR 1242.37 - Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00). 1242.37 Section 1242.37 Transportation Other Regulations Relating to... (accounts XX-26-39 and 62-26-00). Separate common expenses in each account in proportion to the separation...

  9. A Comprehensive Child Development Program; Title XX, Final Report.

    ERIC Educational Resources Information Center

    Whatley, Juanita T.

    This booklet describes the Comprehensive Child Day Care Program for the Atlanta Public School System, a Title XX Program. This program provided day care services for children of clients in various categories. The program goals for 1975-76 were geared toward providing comprehensive day care to encompass social services to the family and…

  10. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

    PubMed

    Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu

    2015-08-01

    Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region. © 2015 Wiley Periodicals, Inc.

  11. Strategies for Detecting Biological Molecules on Titan.

    PubMed

    Neish, Catherine D; Lorenz, Ralph D; Turtle, Elizabeth P; Barnes, Jason W; Trainer, Melissa G; Stiles, Bryan; Kirk, Randolph; Hibbitts, Charles A; Malaska, Michael J

    2018-05-02

    Saturn's moon Titan has all the ingredients needed to produce "life as we know it." When exposed to liquid water, organic molecules analogous to those found on Titan produce a range of biomolecules such as amino acids. Titan thus provides a natural laboratory for studying the products of prebiotic chemistry. In this work, we examine the ideal locales to search for evidence of, or progression toward, life on Titan. We determine that the best sites to identify biological molecules are deposits of impact melt on the floors of large, fresh impact craters, specifically Sinlap, Selk, and Menrva craters. We find that it is not possible to identify biomolecules on Titan through remote sensing, but rather through in situ measurements capable of identifying a wide range of biological molecules. Given the nonuniformity of impact melt exposures on the floor of a weathered impact crater, the ideal lander would be capable of precision targeting. This would allow it to identify the locations of fresh impact melt deposits, and/or sites where the melt deposits have been exposed through erosion or mass wasting. Determining the extent of prebiotic chemistry within these melt deposits would help us to understand how life could originate on a world very different from Earth. Key Words: Titan-Prebiotic chemistry-Solar system exploration-Impact processes-Volcanism. Astrobiology xx, xxx-xxx.

  12. 30. XX byproducts building (containing coke gas compressors at north ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    30. XX by-products building (containing coke gas compressors at north end, ammonia stills in south end), #20 coal conveyor jutting out of top on east side, continuing out west side to bunker. Looking south/southeast - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

  13. Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.

    PubMed

    Chiang, Han-Sun; Wu, Yi-No; Wu, Chien-Chih; Hwang, Jiann-Loung

    2013-02-01

    XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gene was duplicated in that case compared to the normal female control and was significantly lower than that of the normal male control. No such genomic gain was observed in the case of the two SRY-positive 46,XX males. Similar to clinical manifestations of 46,XX male syndrome, genetic evidence in this study suggests that FGF9 may contribute to sex reversal, but additional confirmation with more cases is still needed. Copyright © 2012. Published by Elsevier B.V.

  14. Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.

    PubMed

    Mizuno, Kentaro; Kojima, Yoshiyuki; Kamisawa, Hideyuki; Moritoki, Yoshinobu; Nishio, Hidenori; Kohri, Kenjiro; Hayashi, Yutaro

    2013-12-01

    To elucidate alternative pathways in testicular development, we attempted to clarify the genetic characteristics of SRY-negative XX testes. We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development. We performed a case-control study between the aforementioned boy with 46,XX testicular disorders of sex development and an age-matched patient with hydrocele testis (46,XY). During their consecutive surgeries, testicular biopsy specimens were obtained. Genes with differential expression compared with XY testis were identified using polymerase chain reaction (PCR)-based subtractive hybridization and sequencing. For validation of differential gene expression, real-time RT-PCR was performed using gene-specific primers. The distribution of candidate proteins in the testicular tissue was clarified by immunohistochemistry in human and rodent specimens. Moreover, in vitro inhibitory assays were performed. We identified 13 upregulated and 7 downregulated genes in XX testis. Among the candidate genes, we focused on ROCK1 (Rho-associated, coiled-coil protein kinase 1) in the upregulated gene group, because high expression in XX testis was validated by real-time RT-PCR. ROCK1 protein was detected in germ cells, Leydig cells, and Sertoli cells by immunohistochemistry. Moreover, the addition of specific ROCK1 inhibitor to Sertoli cells decreased SOX9 gene expression. On the basis of in vitro inhibitory assay, it is suggested that ROCK1 phosphorylates and activates SOX9 in Sertoli cells. Testes formation might be initiated by an alternative signaling pathway attributed to ROCK1, not SRY, activation in XX testes. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

    PubMed Central

    Gosden, C M; Wright, M O; Paterson, W G; Grant, K A

    1976-01-01

    A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance. Images PMID:1034015

  16. [Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism].

    PubMed

    Gómez-Valencia, L; Nájera-Martínez, P; Morales-Hernández, A; Martínez-Díaz De León, A

    1989-06-01

    A two year five months old girl is presented with chromosomic complement 47,XXX/48,XXXX/49,XXXXX and presence of 2, 3 and 4 corpuscles in the nuclei of epithelial cells of oral mucosa. It is clinically characterized by short stature, mental retardation, generalized hypotony, bilateral elbow sub-luxation, mesotaurodontism and patent ductus arteriosus. The comparison of the clinical findings between the reported mosaics and the present case indicate the dealing with a specific pattern, recognizable clinically. In the etiologic analysis of this disease the review of pertinent literature suggests the occurrence of successive non-disjunction of the chromosomes X in more than one postzygotic divisions originating more than two stem-cell lines.

  17. Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers.

    PubMed

    Orysiak, Joanna; Sitkowski, Dariusz; Zmijewski, Piotr; Malczewska-Lenczowska, Jadwiga; Cieszczyk, Pawel; Zembron-Lacny, Agnieszka; Pokrywka, Andrzej

    2015-04-01

    The aim of the study was to examine the association between the ACTN3 R577X polymorphism in canoe sprint athletes (canoe and kayak paddlers) and their results at 200- or 1000-m distance. Eighty-six European white male athletes divided into 2 groups-successful, who were outstanding at national championships, and nonsuccessful in these competitions-and 354 nonathletic controls were included in this study. The R577X polymorphism of ACTN3 was typed using PCR-RFLP. ACTN3 genotype distribution among all tested athletes and controls was in Hardy-Weinberg equilibrium. The odds ratio (OR) for successful 1000-m athletes harboring the XX genotype compared with sedentary controls was 2.95 (95% confidence interval [CI]: 1.37-6.35), but the OR for nonsuccessful 200-m athletes having the XX genotype compared with controls was 2.64 (95% CI: 1.30-5.36). These results suggest that factors associated with the ACTN3 XX genotype in canoe and kayak paddlers might provide some competitive advantage in performance at 1000 m, but it seems to limit at 200 m. Further studies aimed at development of training strategies based on genetic factors are needed.

  18. The case of an Sry-negative XX male Pug with an inguinal gonad.

    PubMed

    Rota, A; Cucuzza, A Starvaggi; Iussich, S; Delorenzi, L; Parma, P

    2010-08-01

    A case of intersexuality in a Pug that was bought as a male in a pet shop is described. The dog was presented at the Veterinary Teaching Hospital, University of Turin, for a reddish mass protruding from the prepuce. The mass had the aspect of an enlarged clitoris, with a caudoventral direction and a dorsal urethral ostium. A gonad was palpable in the left inguinal region. Laparotomy confirmed ultrasound detection of an abdominal uterine structure together with the right gonad. The histology of both gonads was similar, showing an exclusively masculine character, with seminiferous tubules lined only by Sertoli cells; the uterus showed a normal histological structure. Karyological analysis revealed a female karyotype (78,XX), and polymerase chain reaction showed the absence of Sry. The diagnosis was an XX male. The pathogenesis of the XX sex reversal syndrome in dogs is not completely understood, as Sry, the master gene regulating testis differentiation, is not present; to date, no genetic cause has been identified for this phenotypic condition in dogs. This case is unusual because the dog showed an inguinal testis, implying a partial activity of the mechanisms leading to abdominal testis translocation along a gubernaculum and transinguinal migration.

  19. Intersexuality associated with XX/XY mosaicism in a horned goat.

    PubMed

    Bongso, T A; Thavalingam, M; Mukherjee, T K

    1982-01-01

    Anatomical, histological, and cytogenetic studies were undertaken on a horned intersex goat kid and three of its normal litter mates. The intersex had male type horns, male beard, vestigial mammary glands, female external genitalia, and an enlarged peniform clitoris, exuded a pungent male odor, had a male bleat, and came into estrus every 20 days. At laparotomy and subsequent slaughter, an ovotestes was observed on the right side and a testis and epididymal remnants on the left side. Uterine horn segments, cervix, vagina, and enlarged clitoris (2 cm) were also present. Histologically, spermatogenesis was not observed in either testis, but active Leydig cells were present. The ovary contained mature follicles. Chromosome analysis revealed 60XX/60XY cell populations in blood, bone marrow, and skin. Lymphocytic metaphases from the male and female cosibs showed single populations of 60XY and 60XX, respectively. Mosaicism associated with the horned condition in the intersex goat was established.

  20. [A case of 63,X/64,XX mosaicism in a subfertile pony mare].

    PubMed

    Pieńkowska-Schelling, A; Handler, J; Neuhauser, S; Schelling, C

    2016-04-01

    The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.

  1. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

    PubMed

    Meyers-Wallen, Vicki N; Boyko, Adam R; Danko, Charles G; Grenier, Jennifer K; Mezey, Jason G; Hayward, Jessica J; Shannon, Laura M; Gao, Chuan; Shafquat, Afrah; Rice, Edward J; Pujar, Shashikant; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H

    2017-01-01

    Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism.

  2. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

    PubMed Central

    Boyko, Adam R.; Grenier, Jennifer K.; Mezey, Jason G.; Hayward, Jessica J.; Shannon, Laura M.; Gao, Chuan; Shafquat, Afrah; Rice, Edward J.; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H.

    2017-01-01

    Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism. PMID:29053721

  3. Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

    PubMed

    Haines, Bryan; Hughes, James; Corbett, Mark; Shaw, Marie; Innes, Josie; Patel, Leena; Gecz, Jozef; Clayton-Smith, Jill; Thomas, Paul

    2015-05-01

    46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated. Here we report a boy with SRY-negative XX male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast cell lines. The affected male carries ∼774-kb insertion translocation from chromosome 1 into a human-specific palindromic sequence 82 kb distal to SOX3. Importantly, robust SOX3 expression was identified in cells derived from the affected individual but not from control XX or XY cells, indicating that the translocation has a direct effect on SOX3 regulation. This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans.

  4. Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

    PubMed

    Rossi, Elena; Radi, Orietta; De Lorenzi, Lisa; Vetro, Annalisa; Groppetti, Debora; Bigliardi, Enrico; Luvoni, Gaia Cecilia; Rota, Ada; Camerino, Giovanna; Zuffardi, Orsetta; Parma, Pietro

    2014-01-01

    Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

  5. Microstructural-Scale Model for Surfaces Spreading of Intergranular Corrosion in Sensitized Stainless Steels and Aluminum-Magnesium (AA5XXX) Alloys

    NASA Astrophysics Data System (ADS)

    Jain, Swati

    Components from AA5XXX (Al-Mg alloys with more than 3 wt% Mg) alloys are X attractive due to availability of low cost, high strength to weight ratio and good weldability. Therefore, these alloys have potential applications in Naval ships. However, these alloys become susceptible to IGC (intergranular corrosion) due to beta-phase precipitation due to improper heat treatment or inadvertent thermal exposure. Stainless steels may also become susceptible due to carbide precipitation and chromium depletion on grain boundaries. IGC susceptibility depends on the interplay between the metallurgical conditions, electrochemical conditions, and chemical conditions. Specific combinations cause IGC while others do not. The objective of this study is to investigate the conditions which bring about surface spreading of IGC in these alloy classes. To accomplish this goal, a microstructure scale model was developed with experimental inputs to understand the 2-D IGC spreading in stainless steels and AA5XXX alloys. The conditions strongly affecting IGC spreading were elucidated. Upon natural and artificial aging, the stainless steels become susceptible to intergranular corrosion because of chromium depletion in the grain boundaries. After aging Al-Mg (AA5XXX) alloys show susceptibility due to the precipitation of the beta-phase (Al3Mg7) in the grain boundaries. Chromium depleted grain boundaries in stainless steels are anodically more active as compared to the interior of the grains. (3-phase rich grain boundaries have lower OCP (open circuit potential) and pitting potentials as compared to the Al-Mg solid solutions. A new approach to modeling the IGC surface spreading in polycrystalline materials that is presented. This model is the first to couple several factors into one granular scale model that illustrates the way in which they interact and IGC occurs. It sheds new information on conditions which cause IGC spreading in two alloy classes and describes a new theory for the critical

  6. Response to ``Comment on `Excitations in photoactive molecules from quantum Monte Carlo' '' [J. Chem. Phys. 122, 087101 (2005)

    NASA Astrophysics Data System (ADS)

    Filippi, Claudia; Buda, Francesco

    2005-02-01

    We find that regions of the excited state potential energy surface of formaldimine, which are accessible from the Franck-Condon configuration, are incorrectly described by the restricted open-shell Kohn-Sham (ROKS) approach. In these regions, the deviations of the ROKS energies from the time-dependent density functional theory results are not a simple shift. Contrary to what is argued in the Comment by Doltsinis and Fink [J. Chem. Phys.XX, XXX (2004)], these differences can play a role in the excited state molecular dynamics of formaldimine at finite temperature.

  7. 46, XX true hermaphroditism associated with a terminal deletion of the short arm of the X chromosome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Barbaux, S.; Vilain, E.; McElreavey, K.

    1994-09-01

    Testes are determined by the activity of the SRY gene product encoded by the Y chromosome. Mutations in SRY can lead to XY sex reversal (XY females) and the presence of the SRY gene in some XX individuals can lead either to complete (XX males) or incomplete (XX true hermaphrodites) sex reversal. Approximately 10% of XX true hermaphrodites contain a portion of the Y chromosome, including SRY, in their genome. The etiology of the remaining cases is unestablished but may be caused by mutations in other as yet unidentied sex determining genes downstream of SRY. Here we describe an SRY-negativemore » true hermaphrodite with a 46,X,del(X)(p21.1-pter). The patient also presented with severe mental retardation, abnormal skin pigmentation and below average height. Histological examination of the gonad revealed bilateral ovotestis. We postulate that the Xp deletion has unmasked a recessive allele on the apparently normal X chromosome generating the intersex phenotype. This observation together with recent findings of certain XY females carrying duplications of Xp21.3 suggests that there may be a loci on Xp which acts as a switch in the testis/ovarian determination pathways.« less

  8. Mutation of foxl2 or cyp19a1a Results in Female to Male Sex Reversal in XX Nile Tilapia.

    PubMed

    Zhang, Xianbo; Li, Mengru; Ma, He; Liu, Xingyong; Shi, Hongjuan; Li, Minghui; Wang, Deshou

    2017-08-01

    It is well accepted that Forkhead box protein L2 (Foxl2) and aromatase (Cyp19a1; the enzyme responsible for estrogen synthesis) are critical for ovarian development in vertebrates. Knockouts of Foxl2 and Cyp19a1 in goat, mouse, and zebrafish have revealed similar but not identical functions across species. Functional analyses of these two genes in other animals are needed to elucidate their conserved roles in vertebrate sexual development. In this study, we established foxl2 and cyp19a1a mutant lines in Nile tilapia. Both foxl2-/- and cyp19a1a-/- XX fish displayed female-to-male sex reversal. Sf1, Dmrt1, and Gsdf were upregulated in the foxl2-/- and the cyp19a1a-/- XX gonads. Downregulation of Cyp19a1a and serum estradiol-17β level, and upregulation of Cyp11b2 and serum 11-ketotestosterone level were observed in foxl2-/- XX fish. The mutant phenotype of foxl2-/- XX individuals could be rescued by 17β-estradiol treatment from 5 to 30 days after hatching (dah). Upregulation of Star1, the enzyme involved in androgen production in tilapia, was also observed in the foxl2-/- XX gonad at 30 and 90 dah. In vitro promoter analyses consistently demonstrated that Foxl2 could suppress the transcription of star1 in a dose-dependent manner. In addition, compared with the control XX gonad, fewer germ cells were detected in the foxl2-/- XX, cyp19a1a-/- XX, and control XY gonads 10 dah. These results demonstrate that Foxl2 promotes ovarian development by upregulating Cyp19a1a expression and repressing male pathway gene expression. These results extend the study of Foxl2 and Cyp19a1a loss of function to a commercially important fish species. Copyright © 2017 Endocrine Society.

  9. Crown heights in the permanent teeth of 45,X and 45,X/46,XX females.

    PubMed

    Pentinpuro, Raija Helena; Lähdesmäki, Raija Eliisa; Niinimaa, Ahti Olavi; Pesonen, Paula Ritva Orvokki; Alvesalo, Lassi Juhani

    2014-11-01

    Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. The material, from the Finnish KVANTTI Research Project, consisted of 97 45,X females and 15 45,X/46,XX females. The controls were 32 sisters and 28 mothers of the 45,X females, eight sisters and two mothers of the 45,X/46,XX females and 35 female population controls. Crown heights of all the available teeth except third molars on both sides of the jaws were measured from panoramic radiographs with a digital calliper according to the defined procedure. The tooth crown heights were significantly smaller in the 45,X females than in the female population controls, except for the incisors and one canine in the maxilla, whereas the tooth crown heights of the 45,X/46,XX females were close to those of the normal control females. The differences between the 45,X and 45,X/46,XX females were statistically significant, excluding the upper incisor area and a few teeth in the mandible. The effect of the sex chromosome deficiency on permanent tooth crown height is due to the magnitude of lacking sex chromosome material. The present results regarding the 45,X females are parallel to previous findings in Turner patients regarding reduced mesiodistal and labiolingual dimensions and tooth crown heights in the permanent dentition.

  10. Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.

    PubMed

    Salamon, Sylwia; Flisikowski, Krzysztof; Switonski, Marek

    2017-01-01

    Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2). Bisulfite-converted DNA was used for CpG methylation analysis using quantitative pyrosequencing. Promoter regions of SOX9 and WNT4 showed similar CpG methylation in each group, ranging from 0 to 5.5% and from 39 to 74%, respectively. The SOX3 promoter showed significantly higher methylation in the ovotesticular XX DSD cases and the testicular XX DSD and control males, suggesting that SOX3 methylation may play a role in canine XX DSD pathogenesis. © 2017 S. Karger AG, Basel.

  11. 75 FR 22745 - Procurement List Additions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-30

    ... Physical Fitness Uniform, Shirts X Small to XXX Large NSN: 8465-00-NIB-0189--United States Coast Guard... XXX Large NSN: 8465-00-NIB-0196--United States Coast Guard Trunks XSmall NSN: 8465-00-NIB-0197--United...

  12. The genetics of XX gonadal dysgenesis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Aittomaeki, K.

    1994-05-01

    In a nationwide population-based study of women born between 1950 and 1976, 75 patients with XX gonadal dysgenesis (XXGD) were identified in Finland. Patients were ascertained through hospital records and the registers of chromosome laboratories. In one family 4 daughters were affected; in six families 2 daughters were affected; and 57 cases were isolated. In one additional family the two affected females were in successive generations. Population records were utilized to trace ancestors of patients back to the beginning of the 19th century, in most cases. Consanguinity was detected in 8 (12%) of 66 families. When females only are considered,more » the segregation analyses yield a proportion of .23 affected. The relatively large number of affected individuals identified (incidence 1 in 8,300 live-born girls) implies a high gene frequency in the Finnish population. The geographic distribution was highly uneven, with most families originating in the sparsely populated north-central part of Finland. These findings support the existence of an autosomal recessive (XXGD) gene (locus designation [open quotes]ODG1[close quotes]) that is highly enriched in Finland. The multiplex families already identified will make it possible to map the ODG1 gene by a random search for linkage by using polymorphic markers. Linkage-disequilibrium analysis in the sporadic patients will then be used to test for genetic homogeneity versus heterogeneity. 27 refs., 3 figs.« less

  13. Characterization of beta phase growth and experimental validation of long term thermal exposure sensitization of AA5XXX alloys

    NASA Astrophysics Data System (ADS)

    Zhu, Yakun

    The United States Navy has a need for fast, light-weight ships to provide rapid deployment in its operations. Strong and corrosion-resistant aluminum alloys, such as AA5083 (UNS A95083) as well as other AA5XXX alloys, have properties that are well-suited for such applications. However, AA5XXX alloys are susceptible to intergranular corrosion (IGC) and stress corrosion cracking (SCC) because of sensitization which is a consequence of the formation of the grain boundary beta-phase, Al3Mg2, and the anodic dissolution of the beta-phase. Significant research has been performed to measure and understand the effects of time, temperature, stress, and sea water on sensitization and associated intergranular corrosion and stress corrosion cracking under steady-state conditions. In the present work, the behaviors of beta-phase nucleation and growth were characterized using optical and electron microscopy, the relationship between preexisting particles and beta-phase, as well as the effect of different heat treatment times and temperatures on IGC and SCC susceptibility of 5XXX alloys were investigated. Grain boundary beta-phase thickness was measured with high resolution transmission electron microscopy (TEM). The corrosion sensitization susceptibility was evaluated according to the American Society for Testing and Materials (ASTM) standard G67 tests, that is, nitric acid mass-loss testing (NAMLT). Diffusion of Mg is manifested by the thickening of beta-phase along the grainboundary because the grain boundary is considered as the preferential site for beta-phase nucleation. The beta-phase growth rate was monitored using high resolution TEM. The variety of precipitates and their subsequent effects on beta-phase nucleation and growth kinetics was investigated. The existence of various intermetallic particles was observed in both baseline and thermally exposed (70°C and 175°C) samples. These particles are usually either rod-shaped or equiaxed, and rich in Mn, Fe, and Cr

  14. Finding Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 1.

    ERIC Educational Resources Information Center

    Copeland, William C.

    This is the first manual of a 4-part series on how to find, obtain, contract for and manage Federal money for children's services. The first manual concentrates on ways to locate funds for new and existing programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not…

  15. 40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 40 Protection of Environment 11 2013-07-01 2013-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

  16. 40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 10 2010-07-01 2010-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

  17. 40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 10 2011-07-01 2011-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

  18. 75 FR 10223 - Procurement List Proposed Additions and Deletions

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-05

    ... Uniform, T-Shirts X Small to XXX Large NSN: 8465-00-NIB-0189--XSmall NSN: 8465-00-NIB-0190--Small NSN..., AR Coast Guard Physical Fitness Uniform, Trunks X Small to XXX Large NSN: 8465-00-NIB-0196--XSmall...

  19. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

    PubMed

    Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A; Looijenga, Leendert H J; De Baere, Elfride; Cools, Martine

    2017-04-01

    We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.

  20. Acoustic radiation force impulse imaging with Virtual Touch™ tissue quantification: mean shear wave velocity of malignant and benign breast masses.

    PubMed

    Wojcinski, Sebastian; Brandhorst, Kathrin; Sadigh, Gelareh; Hillemanns, Peter; Degenhardt, Friedrich

    2013-01-01

    Acoustic radiation force impulse imaging (ARFI) with Virtual Touch™ tissue quantification (VTTQ) enables the determination of shear wave velocity (SWV) in meters per second (m/s). The aim of our study was to describe the mean SWV in normal breast tissue and various breast masses. We performed measurements of SWV with ARFI VTTQ in 145 breast masses (57 malignant, 88 benign) and in the adjacent breast parenchyma and adipose tissue. The mean SWV as well as the rate of successful measurements were analyzed. The difference between adipose tissue and parenchyma was statistically significant (3.05 versus 3.65 m/s) (P < 0.001). Focusing on breast masses, numerous measurements exceeded the upper limit of possible measurement (≥9.10 m/s, indicated as "X.XX m/s"). Nevertheless, the difference between the malignant and benign masses was statistically significant (8.38 ± 1.99 m/s versus 5.39 ± 2.95 m/s) (P < 0.001). The best diagnostic accuracy (75.9%) was achieved when the cutoff point for malignancy was set to 9.10 m/s in ARFI VTTQ. This implies that the SWV was regarded as suspicious when the upper limit of possible measurement was exceeded and the machine returned the value X.XX m/s. In conclusion, ARFI VTTQ is a feasible method for measurement of SWV in a region of interest. Furthermore, we propose the event of a highly elevated SWV as a significant criterion for malignancy. However, the method is technically not yet fully developed, and the problem of unsuccessful measurements must still be solved.

  1. Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats.

    PubMed

    Boulanger, L; Kocer, A; Daniel, N; Pannetier, M; Chesné, P; Heyman, Y; Renault, L; Mandon-Pépin, B; Chavatte-Palmer, P; Vignon, X; Vilotte, J-L; Cotinot, C; Renard, J-P; Pailhoux, E

    2008-01-01

    The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads to two hypotheses, either FOXL2 is responsible for XX sex-reversal in goat assuming distinct functions of its protein during ovarian differentiation in different mammals, or other PIS-regulated genes are involved. To assess the second possibility, PISRT1 expression was constitutively restored in XX PIS(-/-) gonads. Six transgenic fetuses were obtained by nuclear transfer and studied at 2 developmental stages, 41 and 46 days post-reconstruction. The gonads of these fetuses appear phenotypically identical to those of cloned non-transgenic controls. Conclusively, this result argues for FOXL2 being responsible for the PIS gonad-associated phenotype. Its invalidation in goat will help to better understand this complex syndrome. Copyright 2008 S. Karger AG, Basel.

  2. Spectra of Mo XXX, XXXI, and XXXII from a laser-produced plasma

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Burkhalter, P.G.; Reader, J.; Cowan, R.D.

    1977-11-01

    Spectra of highly charged Mo ions generated in a laser-produced plasma were observed from 10 to 190 A with a 3 m grazing- incidence spectrograph. Line identifications in Mo XXX-- XXXII were made with the help of relativistic Hartree-Fock calculations. In Mo XXXI (Mg-like) the 3s/sup 2/ /sup 1/S/sub 0/--3s3p /sup 1/P/sub 1/ resonance line was found to be at 115.944 A. In Mo XXXII (Na-like) the 3s /sup 2/S/sub 1/2/--3p /sup 2/P/sub 3/2,1/2/ resonance lines are at 127.814 and 176.62 A. These values support the recent identifications of these lines in the Princeton ST tokamak by Hinnov. The density-sensitivemore » 3p /sup 2/P/sub 3/2/--3d /sup 2/D/sub 5/2/ transition in Mo XXXII is at 126.937 A. At shorter wavelengths, the 3s--4p transitions of Mo XXXII are at 14.384 and 14.565 A.« less

  3. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology.

    PubMed

    Bianchi, Diana W; Parsa, Saba; Bhatt, Sucheta; Halks-Miller, Meredith; Kurtzman, Kathryn; Sehnert, Amy J; Swanson, Amy

    2015-02-01

    To describe the clinical experience with noninvasive prenatal testing for fetal sex chromosomes using sequencing of maternal plasma cell-free DNA in a commercial laboratory. A noninvasive prenatal testing laboratory data set was examined for samples in which fetal sex chromosomes were reported. Available clinical outcomes were reviewed. Of 18,161 samples with sex chromosome results, no sex chromosome aneuploidy was detected in 98.9% and the fetal sex was reported as XY (9,236) or XX (8,721). In 4 of 32 cases in which the fetal sex was reportedly discordant between noninvasive prenatal testing and karyotype or ultrasonogram, a potential biological reason for the discordance exists, including two cases of documented co-twin demise, one case of a maternal kidney transplant from a male donor, and one case of fetal ambiguous genitalia. In the remaining 204 samples (1.1%), one of four sex chromosome aneuploidies (monosomy X, XXX, XXY, or XYY) was detected. The frequency of false positive results for sex chromosome aneuploidies is a minimum of 0.26% and a maximum of 1.05%. All but one of the discordant sex chromosome aneuploidy results involved the X chromosome. In two putative false-positive XXX cases, maternal XXX was confirmed by karyotype. For the false-positive cases, mean maternal age was significantly higher in monosomy X (P<.001) and lower in XXX (P=.008). Noninvasive prenatal testing results for sex chromosome aneuploidy can be confounded by maternal or fetal biological phenomena. When a discordant noninvasive prenatal testing result is encountered, resolution requires additional maternal history, detailed fetal ultrasonography, and determination of fetal and possibly maternal karyotypes.

  4. Pressure dependence of side chain 13C chemical shifts in model peptides Ac-Gly-Gly-Xxx-Ala-NH2.

    PubMed

    Beck Erlach, Markus; Koehler, Joerg; Crusca, Edson; Munte, Claudia E; Kainosho, Masatsune; Kremer, Werner; Kalbitzer, Hans Robert

    2017-10-01

    For evaluating the pressure responses of folded as well as intrinsically unfolded proteins detectable by NMR spectroscopy the availability of data from well-defined model systems is indispensable. In this work we report the pressure dependence of 13 C chemical shifts of the side chain atoms in the protected tetrapeptides Ac-Gly-Gly-Xxx-Ala-NH 2 (Xxx, one of the 20 canonical amino acids). Contrary to expectation the chemical shifts of a number of nuclei have a nonlinear dependence on pressure in the range from 0.1 to 200 MPa. The size of the polynomial pressure coefficients B 1 and B 2 is dependent on the type of atom and amino acid studied. For H N , N and C α the first order pressure coefficient B 1 is also correlated to the chemical shift at atmospheric pressure. The first and second order pressure coefficients of a given type of carbon atom show significant linear correlations suggesting that the NMR observable pressure effects in the different amino acids have at least partly the same physical cause. In line with this observation the magnitude of the second order coefficients of nuclei being direct neighbors in the chemical structure also are weakly correlated. The downfield shifts of the methyl resonances suggest that gauche conformers of the side chains are not preferred with pressure. The valine and leucine methyl groups in the model peptides were assigned using stereospecifically 13 C enriched amino acids with the pro-R carbons downfield shifted relative to the pro-S carbons.

  5. Flexible Xxx–Asp/Asn and Gly–Xxx Residues of Equine Cytochrome c in Matrix-Assisted Laser Desorption/Ionization In-Source Decay Mass Spectrometry

    PubMed Central

    Takayama, Mitsuo

    2012-01-01

    The backbone flexibility of a protein has been studied from the standpoint of the susceptibility of amino acid residues to in-source decay (ISD) in matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS). Residues more susceptible to MALDI-ISD, namely Xxx–Asp/Asn and Gly–Xxx, were identified from the discontinuous intense peak of c′-ions originating from specific cleavage at N–Cα bonds of the backbone of equine cytochrome c. The identity of the residues susceptible to ISD was consistent with the known flexible backbone amides as estimated by hydrogen/deuterium exchange (HDX) experiments. The identity of these flexible amino acid residues (Asp, Asn, and Gly) is consistent with the fact that these residues are preferred in flexible secondary structure free from intramolecular hydrogen-bonded structures such as α-helix and β-sheet. The MALDI-ISD spectrum of equine cytochrome c gave not only intense N-terminal side c′-ions originating from N–Cα bond cleavage at Xxx–Asp/Asn and Gly–Xxx residues, but also C-terminal side complement z′-ions originating from the same cleavage sites. The present study implies that MALDI-ISD can give information about backbone flexibility of proteins, comparable with the protection factors estimated by HDX. PMID:24349908

  6. Crystal structure of the second fibronectin type III (FN3) domain from human collagen α1 type XX.

    PubMed

    Zhao, Jingfeng; Ren, Jixia; Wang, Nan; Cheng, Zhong; Yang, Runmei; Lin, Gen; Guo, Yi; Cai, Dayong; Xie, Yong; Zhao, Xiaohong

    2017-12-01

    Collagen α1 type XX, which contains fibronectin type III (FN3) repeats involving six FN3 domains (referred to as the FN#1-FN#6 domains), is an unusual member of the fibril-associated collagens with interrupted triple helices (FACIT) subfamily of collagens. The results of standard protein BLAST suggest that the FN3 repeats might contribute to collagen α1 type XX acting as a cytokine receptor. To date, solution NMR structures of the FN#3, FN#4 and FN#6 domains have been determined. To obtain further structural evidence to understand the relationship between the structure and function of the FN3 repeats from collagen α1 type XX, the crystal structure of the FN#2 domain from human collagen α1 type XX (residues Pro386-Pro466; referred to as FN2-HCXX) was solved at 2.5 Å resolution. The crystal structure of FN2-HCXX shows an immunoglobulin-like fold containing a β-sandwich structure, which is formed by a three-stranded β-sheet (β1, β2 and β5) packed onto a four-stranded β-sheet (β3, β4, β6 and β7). Two consensus domains, tencon and fibcon, are structural analogues of FN2-HCXX. Fn8, an FN3 domain from human oncofoetal fibronectin, is the closest structural analogue of FN2-HCXX derived from a naturally occurring sequence. Based solely on the structural similarity of FN2-HCXX to other FN3 domains, the detailed functions of FN2-HCXX and the FN3 repeats in collagen α1 type XX cannot be identified.

  7. Absence of high-temperature ballistic transport in the spin-1/2 XXX chain within the grand-canonical ensemble

    NASA Astrophysics Data System (ADS)

    Carmelo, J. M. P.; Prosen, T.

    2017-01-01

    Whether in the thermodynamic limit, vanishing magnetic field h → 0, and nonzero temperature the spin stiffness of the spin-1/2 XXX Heisenberg chain is finite or vanishes within the grand-canonical ensemble remains an unsolved and controversial issue, as different approaches yield contradictory results. Here we provide an upper bound on the stiffness and show that within that ensemble it vanishes for h → 0 in the thermodynamic limit of chain length L → ∞, at high temperatures T → ∞. Our approach uses a representation in terms of the L physical spins 1/2. For all configurations that generate the exact spin-S energy and momentum eigenstates such a configuration involves a number 2S of unpaired spins 1/2 in multiplet configurations and L - 2 S spins 1/2 that are paired within Msp = L / 2 - S spin-singlet pairs. The Bethe-ansatz strings of length n = 1 and n > 1 describe a single unbound spin-singlet pair and a configuration within which n pairs are bound, respectively. In the case of n > 1 pairs this holds both for ideal and deformed strings associated with n complex rapidities with the same real part. The use of such a spin 1/2 representation provides useful physical information on the problem under investigation in contrast to often less controllable numerical studies. Our results provide strong evidence for the absence of ballistic transport in the spin-1/2 XXX Heisenberg chain in the thermodynamic limit, for high temperatures T → ∞, vanishing magnetic field h → 0 and within the grand-canonical ensemble.

  8. XX/XY Sex Chromosomes in the South American Dwarf Gecko (Gonatodes humeralis).

    PubMed

    Gamble, Tony; McKenna, Erin; Meyer, Wyatt; Nielsen, Stuart V; Pinto, Brendan J; Scantlebury, Daniel P; Higham, Timothy E

    2018-05-11

    Sex-specific genetic markers identified using restriction site-associated DNA sequencing, or RADseq, permits the recognition of a species' sex chromosome system in cases where standard cytogenetic methods fail. Thus, species with male-specific RAD markers have an XX/XY sex chromosome system (male heterogamety) while species with female-specific RAD markers have a ZZ/ZW sex chromosome (female heterogamety). Here, we use RADseq data from 5 male and 5 female South American dwarf geckos (Gonatodes humeralis) to identify an XX/XY sex chromosome system. This is the first confidently known sex chromosome system in a Gonatodes species. We used a low-coverage de novo G. humeralis genome assembly to design PCR primers to validate the male-specificity of a subset of the sex-specific RADseq markers and describe how even modest genome assemblies can facilitate the design of sex-specific PCR primers in species with diverse sex chromosome systems.

  9. FGF9, activin and TGFβ promote testicular characteristics in an XX gonad organ culture model.

    PubMed

    Gustin, Sonja E; Stringer, Jessica M; Hogg, Kirsten; Sinclair, Andrew H; Western, Patrick S

    2016-11-01

    Testis development is dependent on the key sex-determining factors SRY and SOX9, which activate the essential ligand FGF9. Although FGF9 plays a central role in testis development, it is unable to induce testis formation on its own. However, other growth factors, including activins and TGFβs, also present testis during testis formation. In this study, we investigated the potential of FGF9 combined with activin and TGFβ to induce testis development in cultured XX gonads. Our data demonstrated differing individual and combined abilities of FGF9, activin and TGFβ to promote supporting cell proliferation, Sertoli cell development and male germ line differentiation in cultured XX gonads. FGF9 promoted proliferation of supporting cells in XX foetal gonads at rates similar to those observed in vivo during testis cord formation in XY gonads but was insufficient to initiate testis development. However, when FGF9, activin and TGFβ were combined, aspects of testicular development were induced, including the expression of Sox9, morphological reorganisation of the gonad and deposition of laminin around germ cells. Enhancing β-catenin activity diminished the testis-promoting activities of the combined growth factors. The male promoting activity of FGF9 and the combined growth factors directly or indirectly extended to the germ line, in which a mixed phenotype was observed. FGF9 and the combined growth factors promoted male germ line development, including mitotic arrest, but expression of pluripotency genes was maintained, rather than being repressed. Together, our data provide evidence that combined signalling by FGF9, activin and TGFβ can induce testicular characteristics in XX gonads. © 2016 Society for Reproduction and Fertility.

  10. The Trouble with Title XX: A Review of Child Daycare Policy.

    ERIC Educational Resources Information Center

    Morgan, Gwen G.

    This discussion of government policy concerning child day care calls for a shift from provider-oriented to consumer-oriented services funded under Title XX of the Social Security Amendments. Three general views of child day care are described: the social services view, the school-oriented view, and a newer, parent-supportive, consumer-oriented…

  11. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

    PubMed Central

    Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A.; Looijenga, Leendert H.J.; De Baere, Elfride; Cools, Martine

    2017-01-01

    Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. Results: We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. Conclusions: We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad. Genet Med 19 4, 367–376. PMID:27490115

  12. Quantum phase transition in dimerised spin-1/2 chains

    NASA Astrophysics Data System (ADS)

    Das, Aparajita; Bhadra, Sreeparna; Saha, Sonali

    2015-11-01

    Quantum phase transition in dimerised antiferromagnetic Heisenberg spin chain has been studied. A staircase structure in the variation of concurrence within strongly coupled pairs with that of external magnetic field has been observed indicating multiple critical (or critical like) points. Emergence of entanglement due to external magnetic field or magnetic entanglement is observed for weakly coupled spin pairs too in the same dimer chain. Though closed dimerised isotropic XXX Heisenberg chains with different dimer strengths were mainly explored, analogous studies on open chains as well as closed anisotropic (XX interaction) chains with tilted external magnetic field have also been studied.

  13. Microstructural evolution during the homogenization heat treatment of 6XXX and 7XXX aluminum alloys

    NASA Astrophysics Data System (ADS)

    Priya, Pikee

    homogenization heat treatment at both length scales which include the (i) dissolution and transformation of the as-cast secondary phases; (ii) precipitation of dispersoids; and (iii) reprecipitation of some of the secondary phases during post-homogenization cooling. The kinetics of the phase transformations are mostly diffusion controlled except for the eta to S phase transformation in 7XXX alloys which is interface reaction rate controlled which has been implemented using a novel approach. Recommendations for homogenization temperature, time, cooling rates and compositions are made for Al-Si-Mg-Fe-Mn and Al-Zn-Cu-Mg-Zr alloys. The numerical model developed has been applied for a through process solidification-homogenization modeling of a Direct-Chill cast AA7050 cylindrical billet to study the radial variation of microstructure after solidification, homogenization and post-homogenization cooling.

  14. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

    PubMed

    Swartz, Jonathan M; Ciarlo, Ryan; Guo, Michael H; Abrha, Aser; Weaver, Benjamin; Diamond, David A; Chan, Yee-Ming; Hirschhorn, Joel N

    2017-01-01

    A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation. © 2016 S. Karger AG, Basel.

  15. Genetic and physical analyses of Methylobacterium organophilum XX genes encoding methanol oxidation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Machlin, S.M.; Tam, P.E.; Bastien, C.A.

    When allyl alcohol was used as a suicide substrate, spontaneous mutants and UV light- and nitrous acid-generated mutants of Methylobacterium organophilum XX were selected which grew on methylamine but not on methanol. There was no detectable methanol dehydrogenase (MDH) activity in crude extracts of these mutants, yet Western blots revealed that some mutants still produced MDH protein. Complementation of 50 mutants by a cosmid gene bank of M. organophilum XX demonstrated that three major regions of the genome, each of which was separated by a minimum of 40 kilobases, were required for expression of active MDH. By subcloning and Tn5more » insertion mutagenesis of subcloned fragments, at least 11 genes clustered within these three regions were subsequently identified. The identity of the MDH structural gene, which was initially determined by hybridization to the structural gene of Methylobacterium sp. strain AM1, was confirmed by Western blot analysis of an MDH-..beta..-galactosidase fusion protein.« less

  16. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

    PubMed

    Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

    2015-01-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

  17. Audit-Proof Contracting for Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 3.

    ERIC Educational Resources Information Center

    Copeland, William C.

    This is the third of a 3-part series on how to locate, obtain, and manage Federal money for children's services. This manual concentrates on the contracting of money for specific programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not sufficient. Although useful…

  18. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

    PubMed

    Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz-de-Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C; Mendonca, Berenice Bilharinho

    2016-12-01

    Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction

  19. Population pharmacokinetics and pharmacodynamics of ticagrelor and AR-C124910XX in Chinese healthy male subjects.

    PubMed

    Liu, Shuaibing; Xue, Ling; Shi, Xiangfen; Sun, Zhiyong; Zhu, Zhenfeng; Zhang, Xiaojian; Tian, Xin

    2018-06-01

    Ticagrelor, the first reversible P2Y 12 receptor antagonist, exhibits faster onset and offset of antiplatelet effects and more consistent platelet inhibition than clopidogrel in both healthy subjects and patients with stable coronary artery disease. The objectives of this study were to establish a population pharmacokinetics (PK) and pharmacodynamics (PD) model of ticagrelor and to provide a theoretical basis for the optimization of ticagrelor treatment in clinic. A single oral dose of 180 mg ticagrelor was administered to 14 healthy male subjects in a randomized study. Common single-nucleotide polymorphisms (SNPs) in biotransformation enzymes CYP3A4 and CYP3A5 (CYP3A4*1G and CYP3A5*3) were genotyped by PCR-direct sequencing. Blood samples were collected to measure plasma concentrations of ticagrelor and its active metabolite AR-C124910XX and maximal platelet inhibition. Various models were evaluated to characterize the pharmacokinetics of ticagrelor and AR-C124910XX as well as their PK-PD relationship. Covariates that may potentially affect PK or PD of ticagrelor and AR-C124910XX were included and assessed. Simulation for dosage regimen was performed based on the final PK-PD model. Ticagrelor and AR-C124910XX PK were best described by a two-compartment model with first-order transit absorption model. CYP3A4*1G increased clearance for AR-C124910XX, but had no significant effect on ticagrelor clearance. The relationship between concentration and platelet response of ticagrelor was best described by a turnover model. Simulation results indicated that a lower dosage regimen of 30 mg maintenance dose (MD) could produce an anticipated anti-platelet response in comparison to the routine clinical dosage regimen (180 mg loading dose (LD), 90 mg MD). Our study developed a population PK-PD model for ticagrelor and further simulation for dosage regimen was performed based on the final model. Compared to the current recommended dosage regimen (180 mg LD, 90 mg MD), our

  20. Energy Levels and Radiative Rates for Transitions in F-like Sc XIII and Ne-like Sc XII and Y XXX

    NASA Astrophysics Data System (ADS)

    Aggarwal, Kanti

    2018-05-01

    Energy levels, radiative rates and lifetimes are reported for F-like Sc~XIII and Ne-like Sc~XII and Y~XXX for which the general-purpose relativistic atomic structure package ({\\sc grasp}) has been adopted. For all three ions limited data exist in the literature but comparisons have been made wherever possible to assess the accuracy of the calculations. In the present work the lowest 102, 125 and 139 levels have been considered for the respective ions. Additionally, calculations have also been performed with the flexible atomic code ({\\sc fac}) to (particularly) confirm the accuracy of energy levels.

  1. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

    PubMed

    Zangen, David; Kaufman, Yotam; Zeligson, Sharon; Perlberg, Shira; Fridman, Hila; Kanaan, Moein; Abdulhadi-Atwan, Maha; Abu Libdeh, Abdulsalam; Gussow, Ayal; Kisslov, Irit; Carmel, Liran; Renbaum, Paul; Levy-Lahad, Ephrat

    2011-10-07

    XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Most cases are unexplained but thought to be autosomal recessive. We elucidated the genetic basis of XX-GD in a highly consanguineous Palestinian family by using homozygosity mapping and candidate-gene and whole-exome sequencing. Affected females were homozygous for a 3 bp deletion (NM_016556.2, c.600_602del) in the PSMC3IP gene, leading to deletion of a glutamic acid residue (p.Glu201del) in the highly conserved C-terminal acidic domain. Proteasome 26S subunit, ATPase, 3-Interacting Protein (PSMC3IP)/Tat Binding Protein Interacting Protein (TBPIP) is a nuclear, tissue-specific protein with multiple functions. It is critical for meiotic recombination as indicated by the known role of its yeast ortholog, Hop2. Through the C terminus (not present in yeast), PSMC3IP also coactivates ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. In cell lines, the p.Glu201del mutation abolished PSMC3IP activation of estrogen-driven transcription. Impaired estrogenic signaling can lead to ovarian dysgenesis both by affecting the size of the follicular pool created during fetal development and by failing to counteract follicular atresia during puberty. PSMC3IP joins previous genes known to be mutated in XX-GD, the FSH receptor, and BMP15, highlighting the importance of hormonal signaling in ovarian development and maintenance and suggesting a common pathway perturbed in isolated XX-GD. By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

    PubMed

    Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

    2015-10-01

    Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.

  3. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

    PubMed Central

    Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

    2015-01-01

    Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

  4. Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

    PubMed

    Huang, He; Wang, Chun-Qing; Tian, Qin-Jie

    2016-12-01

    The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. Patients' information, medical history, and medical records were obtained. All patients were closely followed up. At the time of diagnosis, the patients presented 19.53 ± 3.60 years old, 165 ± 6.49 cm height, breast development of Tanner stage I, and infantile female genitalia. High level of follicle-stimulating hormone (87.41 ± 21.50 mIU/mL) and LH (27.10 ± 8.47 mIU/mL) and low level of E2 (8.85 ± 6.13 pg/mL) were observed. Individualized hormone replacement therapy (HRT) was initiated after diagnosis. After 2 years of treatment, all patients had obvious breast development; the uterus showed (2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55) cm growth. The incidence of osteopenia changed from 69.70% to 22.22% and that of osteoporosis changed from 18.18% to 0. Dysgeminoma was found in one patient. We concluded that gonadal dysgenesis in 46,XX PGD causes secondary sexual characteristic absence, tendency of taller, osteoporosis, infertility, and sexual health problems. There is minor chance of tumor occurrence for the patients. Optimal care including HRT and close follow-up are required.

  5. 49 CFR 1242.73 - Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 9 2010-10-01 2010-10-01 false Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00). 1242.73 Section 1242.73 Transportation Other... freight lost and damaged—all other (accounts XX-53-70 and 51-53-00). Separate common expenses on basis of...

  6. Spot evolution on the red giant star XX Triangulum. A starspot-decay analysis based on time-series Doppler imaging

    NASA Astrophysics Data System (ADS)

    Künstler, A.; Carroll, T. A.; Strassmeier, K. G.

    2015-06-01

    Context. Solar spots appear to decay linearly proportional to their size. The decay rate of solar spots is directly related to magnetic diffusivity, which itself is a key quantity for the length of a magnetic-activity cycle. Is a linear spot decay also seen on other stars, and is this in agreement with the large range of solar and stellar activity cycle lengths? Aims: We investigate the evolution of starspots on the rapidly-rotating (Prot≈24 d) K0 giant XX Tri, using consecutive time-series Doppler images. Our aim is to obtain a well-sampled movie of the stellar surface over many years, and thereby detect and quantify a starspot decay law for further comparison with the Sun. Methods: We obtained continuous high-resolution and phase-resolved spectroscopy with the 1.2-m robotic STELLA telescope on Tenerife over six years, and these observations are ongoing. For each observing season, we obtained between 5 to 7 independent Doppler images, one per stellar rotation, making up a total of 36 maps. All images were reconstructed with our line-profile inversion code iMap. A wavelet analysis was implemented for denoising the line profiles. To quantify starspot area decay and growth, we match the observed images with simplified spot models based on a Monte Carlo approach. Results: It is shown that the surface of XX Tri is covered with large high-latitude and even polar spots and with occasional small equatorial spots. Just over the course of six years, we see a systematically changing spot distribution with various timescales and morphology, such as spot fragmentation and spot merging as well as spot decay and formation. An average linear decay of D = -0.022 ± 0.002 SH/day is inferred. We found evidence of an active longitude in phase toward the (unseen) companion star. Furthermore, we detect a weak solar-like differential rotation with a surface shear of α = 0.016 ± 0.003. From the decay rate, we determine a turbulent diffusivity of ηT = (6.3 ± 0.5) × 1014 cm2/s and

  7. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports.

    PubMed

    Gao, Xuefeng; Chen, Guian; Huang, Jing; Bai, Quan; Zhao, Nan; Shao, Minjie; Jiao, Liping; Wei, Yanling; Chang, Liang; Li, Dan; Yang, Liping

    2013-03-01

    To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene. Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed. Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present. The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

  8. A chirality change in XPC- and Sfi1-derived peptides affects their affinity for centrin.

    PubMed

    Grecu, Dora; Irudayaraj, Victor Paul Raj; Martinez-Sanz, Juan; Mallet, Jean-Maurice; Assairi, Liliane

    2016-04-01

    The Ca(2+)-binding protein centrin binds to a hydrophobic motif (W(1)xxL(4)xxxL(8)) included in the sequence of several cellular targets: XPC (xeroderma pigmentosum group C protein), Sfi1 (suppressor of fermentation-induced loss of stress resistance protein1), and Sac3 [the central component of the transcription and mRNA export (TREX-2) complex]. However, centrin binding occurs in a reversed orientation (L(8)xxxL(4)xxW(1)) for Sfi1 and Sac3 compared with XPC. Because D-peptides have been investigated for future therapeutic use, we analyzed their centrin-binding properties. Their affinity for centrin was measured using isothermal titration calorimetry. The chirality change in the target-derived peptides affected their ability to bind centrin in a specific manner depending on the sequence orientation of the centrin-binding motif. In contrast to L-XPC-P10, D-XPC-P10 bound C-HsCen1 in a Ca(2+)-dependent manner and to a lesser extent. D-XPC-P10 exhibited a reduced affinity for C-HsCen1 (Ka=0.064 × 10(6) M(-1)) by a factor of 2000 compared with L-XPC-P10 (Ka=132 × 10(6) M(-1)). D-peptides have a lower affinity than L-peptides for centrin, and the strength of this affinity depends on the sequence orientation of the target-derived peptides. The residual affinity observed for D-XPC suggests that the use of d-peptides represents a promising strategy for inhibiting centrin binding to its targets. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. 49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2012-10-01 2012-10-01 false Computers and data processing equipment (account...

  10. 49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2013-10-01 2013-10-01 false Computers and data processing equipment (account...

  11. 49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2011-10-01 2011-10-01 false Computers and data processing equipment (account...

  12. 49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2014-10-01 2014-10-01 false Computers and data processing equipment (account...

  13. 49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2010-10-01 2010-10-01 false Computers and data processing equipment (account...

  14. Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.

    PubMed

    Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Li, Tian-Fu; Zhang, Cui; Cui, Ying-Xia; Xia, Xin-Yi; Zhai, Jin-Sheng

    2014-08-28

    To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent. This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.

  15. Exploring entropic uncertainty relation in the Heisenberg XX model with inhomogeneous magnetic field

    NASA Astrophysics Data System (ADS)

    Huang, Ai-Jun; Wang, Dong; Wang, Jia-Ming; Shi, Jia-Dong; Sun, Wen-Yang; Ye, Liu

    2017-08-01

    In this work, we investigate the quantum-memory-assisted entropic uncertainty relation in a two-qubit Heisenberg XX model with inhomogeneous magnetic field. It has been found that larger coupling strength J between the two spin-chain qubits can effectively reduce the entropic uncertainty. Besides, we observe the mechanics of how the inhomogeneous field influences the uncertainty, and find out that when the inhomogeneous field parameter b<1, the uncertainty will decrease with the decrease of the inhomogeneous field parameter b, conversely, the uncertainty will increase with decreasing b under the condition that b>1. Intriguingly, the entropic uncertainty can shrink to zero when the coupling coefficients are relatively large, while the entropic uncertainty only reduces to 1 with the increase of the homogeneous magnetic field. Additionally, we observe the purity of the state and Bell non-locality and obtain that the entropic uncertainty is anticorrelated with both the purity and Bell non-locality of the evolution state.

  16. The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.

    PubMed

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Ishii, Tomohiro; Anaka, Matthew R; Hasegawa, Tomonobu; Hasegawa, Yukihiro

    2016-01-01

    Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles. The immunolabeling of SOX9 and FOXL2 in the seminiferous tubules and ovarian follicles was mutually exclusive, irrespective of the presence of reversed sex chromosomes. We therefore suggest that the fate of individual gonadal epithelial cells is determined not only by the sex chromosomes but also by local environmental factors. © 2016 S. Karger AG, Basel.

  17. Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

    PubMed Central

    Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz‐de‐Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C

    2016-01-01

    Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal

  18. XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis

    PubMed Central

    Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P.; Voskuhl, Rhonda R.

    2014-01-01

    Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease. PMID:24550311

  19. XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis.

    PubMed

    Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P; Voskuhl, Rhonda R

    2014-02-18

    Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease.

  20. The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.

    PubMed

    Jain, Manish; V, Veeramohan; Chaudhary, Isha; Halder, Ashutosh

    2013-07-01

    The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

  1. Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

    PubMed

    Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

    2016-07-18

    Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis.

  2. Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

    PubMed Central

    Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

    2016-01-01

    Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis. PMID:27425629

  3. Cross sections and rate coefficients for excitation of Δn = 1 transitions in Li-like ions with 6 < Z < 42.

    NASA Astrophysics Data System (ADS)

    Safronova, U. I.; Safronova, M. S.; Kato, T.

    Excitation cross sections and rate coefficients by electron impact were calculated for the 1s22s - 1s2s2p, 1s22s - 1s2s2 and 1s22s - 1s2p2 transitions of the Li-like ions (C IV, N V, O VI, Ne VIII, Mg X, Al XI, Si XII, S XIV, Ar XVI, Ca XVIII, Ti XX, Fe XXIV, Ni XXVI, Zn XXVIII, Ge XXX, Se XXXII, Kr XXXIIV and Mo XXXX) by a Coulomb-Born approximation with exchange and including relativistic effects and configuration interactions. Level energies, mixing coefficients and transition wavelengths and probabilities were also computed.

  4. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

    PubMed

    Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

    2016-01-01

    47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH < 0.1 mIU/ml, FSH 1.4 mIU/ml, testosterone 0.6 nmol/L with raised estradiol, 96 pmol/L. HCG stimulation test showed poor Leydig cell response. The karyotype based on 76 cells was 47 XXY[9]/46 XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

  5. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

    PubMed

    Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

    2010-01-01

    There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

  6. 78 FR 10003 - Proposed Collection; Comment Request for Notice 2009-XX (NOT-151370-08)

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-12

    ... comments concerning Notice 2009-XX, Credit for Carbon Dioxide Sequestration under Section 45Q. [email protected] . SUPPLEMENTARY INFORMATION: Title: Credit for Carbon Dioxide Sequestration under Section... carbon dioxide sequestration (CO 2 sequestration credit) under Sec. 45Q of the Internal Revenue Code...

  7. Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.

    PubMed

    Tirado, Carlos A; Gotway, Garrett; Torgbe, Emmanuel; Iyer, Santha; Dallaire, Stephanie; Appleberry, Taylor; Suterwala, Mohamed; Garcia, Rolando; Valdez, Federico; Patel, Sangeeta; Koduru, Prasad

    2012-01-01

    Individuals with pericentric inversions are at risk for producing offspring with chromosomal gains and losses, while those carrying paracentric inversions usually produce unviable gametes [Madan, 1995]. In this current study, we present a newborn with dysmorphic features and malformations, whose karyotype showed an abnormal copy of chromomosome 7 described at first as add(7)(q32) as well as mos 45,X/47,XXX. Array comparative genomic hybridization (CGH) revealed an interstitial deletion in the long arm of chromosome 7 involving bands q35 to q36.3 but retaining the 7q subtelomere. The patient's deletion is believed to be due to meiotic recombination in the inversion loop in the phenotypically normal father who seems to carry two paracentric inversions in the long arm of chromosome 7, which was described as rec(7)(7pter- > q35::q36.3- > 7qter)pat. The abnormal copy of chromosome 7 in the father has been described as: der(7)(7pter- > q22.1::q36.3- > q35::q22.1- > q35::q36.3- > 7qter). This is a unique karyotype that to our knowledge has not been previously reported in the literature and predisposes to meiotic recombination that can result in deletions or duplications of 7q35-36. Copyright © 2011 Wiley Periodicals, Inc.

  8. Atomic calculations for the Fe XX X-ray lines

    NASA Technical Reports Server (NTRS)

    Mason, H. E.; Bhatia, A. K.

    1983-01-01

    The atomic data presented here and in Bhatia and Mason (1980) allow the calculation of theoretical intensity ratios for all the EUV, UV, and X-ray lines from Fe XX. Tabulations are presently given for the transitions between levels in the 2s2 2p3, 2s2 2p2 3s, and 2s2 2p2 3d configurations of Fe(19+), and electron collision strengths are calculated by means of the 'distorted wave' approximation. In addition to the theoretical X-ray line intensity ratios, new spectral line identifications from a solar flare are presented.

  9. Identification of SOX3 as an XX male sex reversal gene in mice and humans.

    PubMed

    Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

    2011-01-01

    Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad.

  10. Identification of SOX3 as an XX male sex reversal gene in mice and humans

    PubMed Central

    Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

    2010-01-01

    Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome–linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box–containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad. PMID:21183788

  11. Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi

    The authors describe the whole-body chimerism in a newborn infant with small phallus, pseudo-vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG-banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, +21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ-banding chromosome analysis documented 3 heteromorphic satellites on trisomic chromsomes 21 in the 47,XY,+21 cell line and a homozygous satellite pattern in the 46,XX cell line. Heteromorphic patterns of chromsomes 4, 13, 14, and 22more » were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. 10 refs., 3 figs.« less

  12. Detection of the testis determining factor in an XX man.

    PubMed

    Fukutani, K; Kajiwara, T; Nagafuchi, S; Nakahori, Y; Nakagome, Y

    1993-01-01

    An XX male patient was examined for the presence of 25 loci on the Y chromosome. Only 2 loci, the proximal border of the pseudoautosomal region Y and the sex determining region Y, were detected in this patient. The other 23 loci, including the zinc finger protein Y, were absent. We presume that a crossing over between the X and Y chromosomes occurred at the region proximal to the sex determining region Y but distal to the zinc finger protein Y during meiosis of the father.

  13. The Regulation of Sox9 Gene Expression by the GATA4/FOG2 Transcriptional Complex in Dominant XX Sex Reversal Mouse Models.

    PubMed Central

    Manuylov, Nikolay L.; Fujiwara, Yuko; Adameyko, Igor I.; Poulat, Francis

    2007-01-01

    We have previously established an in vivo requirement for GATA4 and FOG2 transcription factors in sexual differentiation. Fog2 null mouse fetuses or fetuses homozygous for a targeted mutation in Gata4 (Gata4ki), which cripples the GATA4-FOG2 interaction, exhibit a profound and early block in testis differentiation in both sexes. Others have shown that XX mice with the Ods transgenic insertion or the Wt1-Sox9 YAC transgene overexpress the testis differentiation gene, Sox9. Thus, these XX animals undergo dominant sex-reversal by developing into phenotypically normal, but sterile, males. Now we have determined that Fog2 haploinsufficiency prevents (suppresses) this dominant sex-reversal and Fog2+/− Wt1-Sox9 or Ods XX animals develop normally - as fertile females. The suppression of sex-reversal in Fog2 heterozygous females results from approximately 50% downregulation of the expression from the transgene-associated allele of Sox9. The GATA4/FOG2-dependent sex reversal observed in the transgenic XX gonads has to rely on gene targets other than the Y chromosome-linked Sry gene. Importantly, Fog2 null or Gata4ki/ki embryos (either XX or XY) fail to express detectable levels of Sox9 despite carrying the Ods mutation or Wt1-Sox9 transgene. Fog2 haploinsufficiency leads to a decreased amount of SOX9-positive cells in XY gonads. We conclude that FOG2 is a limiting factor in the formation of a functional GATA4/FOG2 transcription complex that is required for Sox9 expression during gonadogenesis. PMID:17540364

  14. Changing patterns of daily rhythmicity across reproductive states in diurnal female Nile grass rats (Arvicanthis niloticus)

    PubMed Central

    Schradera, Jessica A.; Walaszczykb, Erin J.; Smalea, Laura

    2009-01-01

    SCHRADER, J.A., E. J. WALASZCZYK, AND L. SMALE. Changing patterns of daily rhythmicity across reproductive states in diurnal female Nile grass rats (Arvicanthis niloticus). PHYSIOL BEHAV XX(X) XXX-XXX, XXXX. -- A suite of changes in circadian rhythms have been described in nocturnal rodents as females go through pregnancy and lactation, but there is no information on such patterns in diurnal species. As the challenges faced by these two groups of animals are somewhat different, we characterized changes in activity and core body temperature (Tb) in female diurnal Nile grass rats (Arvicanthis niloticus) as they went through a series of reproductive states: virgin, pregnant, pregnant and lactating, lactating only, and post-weaning. The phase of neither rhythm varied, but the amplitude did. Females increased their overall levels of daily activity from early to late pregnancy, regardless of whether they were also lactating. The pattern of activity was less rhythmic during early than mid-lactation, in both non-pregnant and pregnant females, as a consequence of a decrease in daytime relative to nighttime activity. The Tb rhythm amplitude dropped from mid-pregnancy through mid-lactation, and there were rises in Tb troughs during the mid-light and mid-dark phases of the day, though pregnancy and lactation affected Tb at these times in somewhat different ways. This study demonstrates that rhythms in diurnal grass rats change during pregnancy and lactation in different ways than those of nocturnal species that have been studied to date and that the effects of pregnancy and lactation are not additive in any simple way. PMID:19744504

  15. Demographic Data for Special Needs Children in Title XX Day Care. Report No. 7698.

    ERIC Educational Resources Information Center

    Asano, Mildred

    Presented are demographic data for handicapped children in the Philadelphia area who might be eligible for federally funded (Title XX) day care services. The report consists of data tables and narrative sections for the following information: estimated number of handicapped children within catchment areas (CA's); estimated median income level of…

  16. Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism.

    PubMed

    Laursen, R J; Alsbjerg, B; Vogel, I; Gravholt, C H; Elbaek, H; Lildballe, D L; Humaidan, P; Vestergaard, E M

    2018-04-30

    We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity. We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.

  17. Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies

    PubMed Central

    2014-01-01

    Background Supernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual’s karyotype; they affect around 1 in 400 individuals. Although there is high variability, each sSCA subtype has a characteristic set of cognitive and physical phenotypes. Here, we investigated the differences in the morphometry of the human corpus callosum (CC) between sex-matched controls 46,XY (N =99), 46,XX (N =93), and six unique sSCA karyotypes: 47,XYY (N =29), 47,XXY (N =58), 48,XXYY (N =20), 47,XXX (N =30), 48,XXXY (N =5), and 49,XXXXY (N =6). Methods We investigated CC morphometry using local and global area, local curvature of the CC boundary, and between-landmark distance analysis (BLDA). We hypothesized that CC morphometry would vary differentially along a proposed spectrum of Y:X chromosome ratio with supernumerary Y karyotypes having the largest CC areas and supernumerary X karyotypes having significantly smaller CC areas. To investigate this, we defined an sSCA spectrum based on a descending Y:X karyotype ratio: 47,XYY, 46,XY, 48,XXYY, 47,XXY, 48,XXXY, 49,XXXXY, 46,XX, 47,XXX. We similarly explored the effects of both X and Y chromosome numbers within sex. Results of shape-based metrics were analyzed using permutation tests consisting of 5,000 iterations. Results Several subregional areas, local curvature, and BLDs differed between groups. Moderate associations were found between area and curvature in relation to the spectrum and X and Y chromosome counts. BLD was strongly associated with X chromosome count in both male and female groups. Conclusions Our results suggest that X- and Y-linked genes have differential effects on CC morphometry. To our knowledge, this is the first study to compare CC morphometry across these extremely rare groups. PMID:25780557

  18. Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies.

    PubMed

    Wade, Benjamin S C; Joshi, Shantanu H; Reuter, Martin; Blumenthal, Jonathan D; Toga, Arthur W; Thompson, Paul M; Giedd, Jay N

    2014-01-01

    Supernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals. Although there is high variability, each sSCA subtype has a characteristic set of cognitive and physical phenotypes. Here, we investigated the differences in the morphometry of the human corpus callosum (CC) between sex-matched controls 46,XY (N =99), 46,XX (N =93), and six unique sSCA karyotypes: 47,XYY (N =29), 47,XXY (N =58), 48,XXYY (N =20), 47,XXX (N =30), 48,XXXY (N =5), and 49,XXXXY (N =6). We investigated CC morphometry using local and global area, local curvature of the CC boundary, and between-landmark distance analysis (BLDA). We hypothesized that CC morphometry would vary differentially along a proposed spectrum of Y:X chromosome ratio with supernumerary Y karyotypes having the largest CC areas and supernumerary X karyotypes having significantly smaller CC areas. To investigate this, we defined an sSCA spectrum based on a descending Y:X karyotype ratio: 47,XYY, 46,XY, 48,XXYY, 47,XXY, 48,XXXY, 49,XXXXY, 46,XX, 47,XXX. We similarly explored the effects of both X and Y chromosome numbers within sex. Results of shape-based metrics were analyzed using permutation tests consisting of 5,000 iterations. Several subregional areas, local curvature, and BLDs differed between groups. Moderate associations were found between area and curvature in relation to the spectrum and X and Y chromosome counts. BLD was strongly associated with X chromosome count in both male and female groups. Our results suggest that X- and Y-linked genes have differential effects on CC morphometry. To our knowledge, this is the first study to compare CC morphometry across these extremely rare groups.

  19. Alpha-Actinin-3 R577X Polymorphism Influences Muscle Damage and Hormonal Responses After a Soccer Game.

    PubMed

    Coelho, Daniel B; Pimenta, Eduardo M; Rosse, Izinara C; Veneroso, Christiano; Pussieldi, Guilherme De Azambuja; Becker, Lenice K; Oliveira, Emerson C; Carvalho, Maria R S; Silami-Garcia, Emerson

    2018-05-17

    Coelho, DB, Pimenta, EM, Rosse, IC, Veneroso, C, Pussieldi, GDA, Becker, LK, De Oliveira, EC, Carvalho, MRS, and Silami-Garcia, E. Alpha-actinin-3 R577X polymorphism influences muscle damage and hormonal responses after a soccer game. J Strength Cond Res XX(X): 000-000, 2018-The purpose of this study was to evaluate indicators of muscle damage and hormonal responses after soccer matches and its relation to alpha-actinin-3 (ACTN3) gene expression (XX vs. RR/RX), considering that the R allele produces alpha-actinin-3 and provides greater muscle strength and power. Thirty players (10 XX and 20 RR/RX) younger than 16 years were evaluated in this study. Blood samples were collected immediately before, after, 2, and 4 hours after the games to assess muscle damage (creatine kinase [CK] and alpha-actin) and hormonal responses (interleukin-6 [IL-6], cortisol, and testosterone). Postgame CK was higher as compared to the pregame values in both groups and it was also higher in the RR/RX (p < 0.05) than in the XX. The concentrations of alpha-actin and IL-6 were similar for both groups and did not change over time. Testosterone was increased after the game only in the RR/RX group (p < 0.05). Cortisol concentrations in group RR/RX were higher immediately after the game than before the game, and 2 and 4 hours after the game the concentration decreased (p < 0.05). The RR and RX individuals presented higher markers of muscle microtrauma and hormonal stress, probably because they performed more speed and power actions during the game, which is a self-regulated activity. From the different responses presented by RR/RX and XX genotypes, we conclude that the genotypic profile should be taken into account when planning training workloads and recovery of athletes.

  20. Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.

    PubMed

    Diel de Amorim, M; Lerer, A; Durzi, T; Foster, R A; Gartley, C J

    2018-06-01

    A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (<1 ng/ml Witness ® LH), and serum progesterone concentration was elevated in the chemiluminescence immunoassay (CLIA; 20 ng/ml), consistent with dioestrus and presence of ovarian tissue. Transabdominal ultrasound revealed a retroperitoneal soft tissue structure suspected to be a gonad. On exploratory laparotomy, a gonad was removed from the cranial retroperitoneum, cranial to the right kidney, after ligation of its primary blood supply. Histological examination proved the gonad to be an ovotestis. Subsequent cytogenetics revealed a 78 XX karyotype, thus confirming the diagnosis of ectopic ovotestis in a XX ovotesticular, SRY-negative, disorder of sexual development in a dog. © 2018 Blackwell Verlag GmbH.

  1. Drastic stability change of X-X mismatch in d(CXG) trinucleotide repeat disorders under molecular crowding condition.

    PubMed

    Teng, Ye; Pramanik, Smritimoy; Tateishi-Karimata, Hisae; Ohyama, Tatsuya; Sugimoto, Naoki

    2018-02-05

    The trinucleotide repeat d(CXG) (X = A, C, G or T) is the most common sequence causing repeat expansion disorders. The formation of non-canonical structures, such as hairpin structures with X-X mismatches, has been proposed to affect gene expression and regulation, which are important in pathological studies of these devastating neurological diseases. However, little information is available regarding the thermodynamics of the repeat sequence under crowded cellular conditions where many non-canonical structures such as G-quadruplexes are highly stabilized, while duplexes are destabilised. In this study, we investigated the different stabilities of X-X mismatches in the context of internal d(CXG) self-complementary sequences in an environment with a high concentration of cosolutes to mimic the crowding conditions in cells. The stabilities of full-matched duplexes and duplexes with A-A, G-G, and T-T mismatched base pairs under molecular crowding conditions were notably decreased compared to under dilute conditions. However, the stability of the DNA duplex with a C-C mismatch base pair was only slightly destabilised. Investigating different stabilities of X-X mismatches in d(CXG) sequences is important for improving our understanding of the formation and transition of multiple non-canonical structures in trinucleotide repeat diseases, and may provide insights for pathological studies and drug development. Copyright © 2018 Elsevier Inc. All rights reserved.

  2. A high-accuracy algorithm for solving nonlinear PDEs with high-order spatial derivatives in 1 + 1 dimensions

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Yao, Jian Hua; Gooding, R.J.

    1994-06-01

    We propose an algorithm to solve a system of partial differential equations of the type u[sub t](x,t) = F(x, t, u, u[sub x], u[sub xx], u[sub xxx], u[sub xxxx]) in 1 + 1 dimensions using the method of lines with piecewise ninth-order Hermite polynomials, where u and F and N-dimensional vectors. Nonlinear boundary conditions are easily incorporated with this method. We demonstrate the accuracy of this method through comparisons of numerically determine solutions to the analytical ones. Then, we apply this algorithm to a complicated physical system involving nonlinear and nonlocal strain forces coupled to a thermal field. 4 refs.,more » 5 figs., 1 tab.« less

  3. Spectral methods in time for a class of parabolic partial differential equations

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Ierley, G.; Spencer, B.; Worthing, R.

    1992-09-01

    In this paper, we introduce a fully spectral solution for the partial differential equation u[sub t] + uu[sub x] + vu[sub xx] + [mu]u[sub xxx] + [lambda]u[sub xxxx] = O. For periodic boundary conditions in space, the use of a Fourier expansion in x admits of a particularly efficient algorithm with respect to expansion of the time dependence in a Chebyshev series. Boundary conditions other than periodic may still be treated with reasonable, though lesser, efficiency. for all cases, very high accuracy is attainable at moderate computational cost relative to the expense of variable order finite difference methods in time.more » 14 refs., 9 figs.« less

  4. Low-energy phonon dispersion in LaFe4Sb12

    NASA Astrophysics Data System (ADS)

    Leithe-Jasper, Andreas; Boehm, Martin; Mutka, Hannu; Koza, Michael M.

    We studied the vibrational dynamics of a single crystal of LaFe4Sb12 by three-axis inelastic neutron spectroscopy. The dispersion of phonons with wave vectors q along [ xx 0 ] and [ xxx ] directions in the energy range of eigenmodes with high amplitudes of lanthanum vibrations, i.e., at ℏω < 12 meV is identified. Symmetry-avoided anticrossing dispersion of phonons is established in both monitored directions and distinct eigenstates at high-symmetry points and at the Brillouin-zone center are discriminated. The experimentally derived phonon dispersion and intensities are compared with and backed up by ab initio lattice dynamics calculations. results of the computer model match well with the experimental data.

  5. 39 CFR 3060. 30 - Statement of allocated assets and liabilities for competitive products.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... on basis of: Total net assets Cash and Cash Equivalents $x,xxx $x,xxx $x,xxx Net Accounts Receivable x,xxx x,xxx x,xxx Supplies, Advances and Prepayments x,xxx x,xxx x,xxx Appropriations Receivable—Revenue Forgone x,xxx x,xxx x,xxx Total Current Assets x,xxx x,xxx x,xxx Property and Equipment: Buildings...

  6. 39 CFR 3060. 30 - Statement of allocated assets and liabilities for competitive products.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... on basis of: Total net assets Cash and Cash Equivalents $x,xxx $x,xxx $x,xxx Net Accounts Receivable x,xxx x,xxx x,xxx Supplies, Advances and Prepayments x,xxx x,xxx x,xxx Appropriations Receivable—Revenue Forgone x,xxx x,xxx x,xxx Total Current Assets x,xxx x,xxx x,xxx Property and Equipment: Buildings...

  7. 39 CFR 3060. 30 - Statement of allocated assets and liabilities for competitive products.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... on basis of: Total net assets Cash and Cash Equivalents $x,xxx $x,xxx $x,xxx Net Accounts Receivable x,xxx x,xxx x,xxx Supplies, Advances and Prepayments x,xxx x,xxx x,xxx Appropriations Receivable—Revenue Forgone x,xxx x,xxx x,xxx Total Current Assets x,xxx x,xxx x,xxx Property and Equipment: Buildings...

  8. 39 CFR 3060. 30 - Statement of allocated assets and liabilities for competitive products.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... on basis of: Total net assets Cash and Cash Equivalents $x,xxx $x,xxx $x,xxx Net Accounts Receivable x,xxx x,xxx x,xxx Supplies, Advances and Prepayments x,xxx x,xxx x,xxx Appropriations Receivable—Revenue Forgone x,xxx x,xxx x,xxx Total Current Assets x,xxx x,xxx x,xxx Property and Equipment: Buildings...

  9. 39 CFR 3060. 30 - Statement of allocated assets and liabilities for competitive products.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... on basis of: Total net assets Cash and Cash Equivalents $x,xxx $x,xxx $x,xxx Net Accounts Receivable x,xxx x,xxx x,xxx Supplies, Advances and Prepayments x,xxx x,xxx x,xxx Appropriations Receivable—Revenue Forgone x,xxx x,xxx x,xxx Total Current Assets x,xxx x,xxx x,xxx Property and Equipment: Buildings...

  10. Teleportation via thermally entangled states of a two-qubit Heisenberg XX chain

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Yeo Ye

    2002-12-01

    Recently, entanglement teleportation has been investigated by Lee and Kim [Phys. Rev. Lett. 84, 4236 (2000)]. In this paper we study entanglement teleportation via two separate thermally entangled states of a two-qubit Heisenberg XX chain. We established the condition under which the parameters of the model have to satisfy in order to teleport entanglement. The necessary minimum amount of thermal entanglement for some fixed strength of exchange coupling is a function of the magnetic field and the temperature.

  11. [Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

    PubMed

    Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

    2012-08-01

    To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

  12. A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

    PubMed

    Narayanan, Vidya Kanamkote; Kharbanda, Mira; Donaldson, Malcolm

    2016-12-01

    Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight -0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.

  13. Discovery of DLT18h/AT 2018xx with PROMPT and the DLT40 Survey

    NASA Astrophysics Data System (ADS)

    Sand, D.; Valenti, S.; Wyatt, S.; Bostroem, K. A.; Reichart, D. E.; Haislip, J. B.; Kouprianov, V.

    2018-02-01

    We report the discovery of DLT18h/AT 2018xx, which was first imaged on 2018 Feb 21.1 (UT) at R 17.2 mag during the ongoing D < 40 Mpc (DLT40) one day cadence supernova search, which uses data from the PROMPT5 0.41m telescope located at CTIO.

  14. Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia?

    PubMed

    Lee, Peter A; Houk, Christopher P; Husmann, Douglas A

    2010-10-01

    We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth. After receiving institutional review board approval and subject consent we reviewed the medical records of 12 men 35 to 69 years old with 46,XX congenital adrenal hyperplasia, of whom 6 completed social and gender issue questionnaires. All subjects were assigned male gender at birth, were diagnosed with virilizing congenital adrenal hyperplasia at age greater than 3 years and indicated a male gender identity with sexual orientation to females. Ten of the 12 subjects had always lived as male and 2 who were reassigned to female gender in childhood subsequently self-reassigned as male. Nine of the 12 men had long-term female partners, including 7 married 12 years or more. The 3 subjects without a long-term female partner included 1 priest, 1 who was reassigned female gender, married, divorced and self-reassigned as male, and 1 with a girlfriend and sexual activity. All except the priest and the subject who was previously married when female indicated a strong libido and frequent orgasmic sexual activity. Responses to self-esteem, masculinity, body image, social adjustment and symptom questionnaires suggested adjustments related to the extent of familial and social support. Outcome data on severely masculinized 46,XX patients with congenital adrenal hyperplasia who were assigned male gender at birth indicate male gender identity in adulthood with satisfactory male sexual function in those retaining male genitalia. In men who completed questionnaires results were poorer in those lacking familial/social support. Male gender of rearing may be a viable option for parents whose children are born with congenital adrenal hyperplasia, a 46,XX karyotype and male genitalia, although positive parental and other support, and counseling are needed for adjustment. Copyright © 2010 American Urological Association Education and Research

  15. Fatigue behavior of a 2XXX series aluminum alloy reinforced with 15 vol Pct SiCp

    NASA Astrophysics Data System (ADS)

    Bonnen, J. J.; Allison, J. E.; Jones, J. W.

    1991-05-01

    The fatigue behavior of a naturally aged powder metallurgy 2xxx series aluminum alloy (Alcoa MB85) and a composite made of this alloy with 15 vol pct SiCp, has been investigated. Fatigue lives were determined using load-controlled axial testing of unnotched cylindrical samples. The influence of mean stress was determined at stress ratios of -1, 0.1, and 0.7. Mean stress had a significant influence on fatigue life, and this influence was consistent with that normally observed in metals. At each stress ratio, the incorporation of SiC reinforcement led to an increase in fatigue life at low and intermediate stresses. When considered on a strain-life basis, however, the composite materials had a somewhat inferior resistance to fatigue. Fatigue cracks initiated from several different microstructural features or defect types, but fatigue life did not vary significantly with the specific initiation site. As the fatigue crack advanced away from the fatigue crack initiation site, increasing numbers of SiC particles were fractured, in agreement with crack-tip process zone models.

  16. A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative).

    PubMed

    Salamon, Sylwia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Dzimira, Stanisław; Nizanski, Wojciech; Ochota, Malgorzata; Switonski, Marek

    2014-01-01

    A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely. © 2014 S. Karger AG, Basel.

  17. Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Turner, B.; Vordermark, J.S.; Fechner, P.Y.

    1995-07-03

    We have evaluated 3 individuals with a rare form of 46,XX sex reversal. All of them had ambiguous external genitalia and mixed wolffian and muellerian structures, indicating both Leydig cell and Sertoli cell dysfunction, similar to that of patients with true hermaphroditism. However, gonadal tissue was not ovotesticular but testicular with varying degrees of dysgenesis. SRY sequences were absent in genomic DNA from peripheral leukocytes in all 3 subjects. Y centromere sequences were also absent, indicating that testis development did not occur because of a low level mosaicism of Y-bearing cells. The subjects in this report demonstrate that there ismore » a continuum in the extent of the testis determination in SRY-negative 46,XX sex reversal, ranging from nearly normal to minimal testicular development. 20 refs.« less

  18. High-efficiency and high-reliability 9xx-nm bars and fiber-coupled devices at Coherent

    NASA Astrophysics Data System (ADS)

    Zhou, Hailong; Kennedy, Keith; Weiss, Eli; Li, Jun; Anikitchev, Serguei; Reichert, Patrick; Du, Jihua; Schleuning, David; Nabors, David; Reed, Murray; Toivonen, Mika; Lehkonen, Sami; Haapamaa, Jouko

    2006-02-01

    Ongoing optimization of epitaxial design within Coherent device engineering has led to a family of high power-conversion-efficiency (PCE) products on conductively cooled packages (CCP) and fiber array packages (FAP). At a 25°C heat sink temperature, the PCE was measured at 71.5% with 75W CW output power on 30% fill-factor (FF) bars with passive cooling. At heat sink temperatures as high as 60°C the PCE of these bars is still maintained above 60%. Powered by such high efficiency 9xx nm diodes, Coherent FAP products have consistently exceeded 55% PCE up to 50W power levels, with 62% PCE demonstrated out of the fiber. High linear-power-density (LPD) operation of 100μm x 7-emitter bars at LPD = 80 mW/μm was also demonstrated. Bars with 7-emitter were measured up to 140W QCW power before catastrophic optical mirror damage (COMD) occurred, which corresponds to a COMD value of 200mW/μm or 2D facet power density of 29.4 MW/cm2. Leveraging these improvements has enabled high power FAPs with >90W CW from an 800μm-diameter fiber bundle. Extensive reliability testing has already accumulated 400,000 total real-time device hours at a variety of accelerated and non-accelerated operating conditions. A random failure rate <0.5% per kilo-hours and gradual degradation rate <0.4% per kilo-hours have been observed. For a 30% FF 50W CW 9xx nm bar, this equates to >30,000 hours of median lifetime at a 90% confidence level. More optimized 30% FF 9xx nm bars are under development for power outputs up to 80W CW with extrapolated median lifetimes greater than 20,000 hours.

  19. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

    PubMed

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

    Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

  20. 26 CFR 1.381(c)(1)-2 - Net operating loss carryovers; two or more dates of distribution or transfer in the taxable year.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... Transferor corporation Z 1954 xxx xxx ($30,000) 1955 xxx xxx 1,000 1956 xxx xxx 1,000 1957 ($20,000) ($25,000) 1,000 Ending 6-30-58 xxx 1,000 xxx Ending 9-30-58 xxx xxx 1,000 1958 36,500 xxx xxx The sequence in..., computed as follows: Z's 1954 loss xxx Y's 1957 loss $14,800 X's 1957 loss 91,900 Total 16,700 ...

  1. 26 CFR 1.381(c)(1)-2 - Net operating loss carryovers; two or more dates of distribution or transfer in the taxable year.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... Transferor corporation Z 1954 xxx xxx ($30,000) 1955 xxx xxx 1,000 1956 xxx xxx 1,000 1957 ($20,000) ($25,000) 1,000 Ending 6-30-58 xxx 1,000 xxx Ending 9-30-58 xxx xxx 1,000 1958 36,500 xxx xxx The sequence in..., computed as follows: Z's 1954 loss xxx Y's 1957 loss $14,800 X's 1957 loss 91,900 Total 16,700 ...

  2. 26 CFR 1.381(c)(1)-2 - Net operating loss carryovers; two or more dates of distribution or transfer in the taxable year.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... Transferor corporation Z 1954 xxx xxx ($30,000) 1955 xxx xxx 1,000 1956 xxx xxx 1,000 1957 ($20,000) ($25,000) 1,000 Ending 6-30-58 xxx 1,000 xxx Ending 9-30-58 xxx xxx 1,000 1958 36,500 xxx xxx The sequence in..., computed as follows: Z's 1954 loss xxx Y's 1957 loss $14,800 X's 1957 loss 91,900 Total 16,700 ...

  3. 26 CFR 1.381(c)(1)-2 - Net operating loss carryovers; two or more dates of distribution or transfer in the taxable year.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... Acquiring corporation X Transferor corporation Y Transferor corporation Z 1954 xxx xxx ($30,000) 1955 xxx xxx 1,000 1956 xxx xxx 1,000 1957 ($20,000) ($25,000) 1,000 Ending 6-30-58 xxx 1,000 xxx Ending 9-30-58 xxx xxx 1,000 1958 36,500 xxx xxx The sequence in which the losses of the acquiring corporation...

  4. 26 CFR 1.381(c)(1)-2 - Net operating loss carryovers; two or more dates of distribution or transfer in the taxable year.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... Acquiring corporation X Transferor corporation Y Transferor corporation Z 1954 xxx xxx ($30,000) 1955 xxx xxx 1,000 1956 xxx xxx 1,000 1957 ($20,000) ($25,000) 1,000 Ending 6-30-58 xxx 1,000 xxx Ending 9-30-58 xxx xxx 1,000 1958 36,500 xxx xxx The sequence in which the losses of the acquiring corporation...

  5. Influences of Brain Size, Sex, and Sex Chromosome Complement on the Architecture of Human Cortical Folding.

    PubMed

    Fish, Ari M; Cachia, Arnaud; Fischer, Clara; Mankiw, Catherine; Reardon, P K; Clasen, Liv S; Blumenthal, Jonathan D; Greenstein, Deanna; Giedd, Jay N; Mangin, Jean-François; Raznahan, Armin

    2017-12-01

    Gyrification is a fundamental property of the human cortex that is increasingly studied by basic and clinical neuroscience. However, it remains unclear if and how the global architecture of cortical folding varies with 3 interwoven sources of anatomical variation: brain size, sex, and sex chromosome dosage (SCD). Here, for 375 individuals spanning 7 karyotype groups (XX, XY, XXX, XYY, XXY, XXYY, XXXXY), we use structural neuroimaging to measure a global sulcation index (SI, total sulcal/cortical hull area) and both determinants of sulcal area: total sulcal length and mean sulcal depth. We detail large and patterned effects of sex and SCD across all folding metrics, but show that these effects are in fact largely consistent with the normative scaling of cortical folding in health: larger human brains have disproportionately high SI due to a relative expansion of sulcal area versus hull area, which arises because disproportionate sulcal lengthening overcomes a lack of proportionate sulcal deepening. Accounting for these normative allometries reveals 1) brain size-independent sulcal lengthening in males versus females, and 2) insensitivity of overall folding architecture to SCD. Our methodology and findings provide a novel context for future studies of human cortical folding in health and disease. Published by Oxford University Press 2016.

  6. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

    PubMed

    Hammer, Sara; Dorrani, Naghmeh; Hartiala, Jaana; Stein, Stuart; Schanen, N Carolyn

    2003-10-15

    Rett syndrome is caused by mutation in MECP2, a gene located on Xq28 and subject to X-inactivation. MECP2 encodes methyl CpG-binding protein 2, a widely expressed transcriptional repressor of methylated DNA. Mutations in MECP2 are primarily de novo events in the male germ line and thus lead to an excess of affected females. Here we report the identification of a unique 47,XXX girl with relatively mild atypical Rett syndrome leading initially to a diagnosis of infantile autism with regression. Mutation analysis of the MECP2 gene identified a de novo MECP2 mutation, L100V. Examination of a panel of X-linked microsatellite markers indicated that her supernumerary X chromosome is maternally derived. X-inactivation patterns were determined by analysis of methylation of the androgen receptor locus, and indicated preferential inactivation of her paternal allele. The parental origin of her MECP2 mutation could not be determined because she was uninformative for intronic polymorphisms flanking her mutation. This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype. Copyright 2003 Wiley-Liss, Inc.

  7. A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy

    PubMed Central

    Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

    2017-01-01

    Abstract. Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured. PMID:29026275

  8. A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

    PubMed

    Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

    2017-01-01

    Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

  9. Study of the invariant structure function of the reaction. pi. /sup -/p. --> gamma. /sup +/xxx at 5 GeV/c

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Amaglobeli, N.S.; Budagov, Y.A.; Valkar, S.

    1977-07-01

    The invariant differential cross section f (x,p/sub perpendicular/) of the reaction ..pi../sup -/p..--> gamma../sup +/xxx at 5 GeV/c was measured in a broad range of x and p/sub perpendicular/. An approximating formula is found for f (x,p/sub perpendicular/). It is shown that the function f (x,p/sub perpendicular/) is not factorizable in the variables x and p/sub perpendicular/. In some regions of phase space scale-invariant (scaling) behavior of the differential cross section is observed. Analysis of the asymmetry of the longitudinal momentum spectrum of the photons indicates that the production mechanisms of neutral and charged pions are similar in the centralmore » region. The results of the analysis are in qualitative agreement with the predictions of the quark model of hadrons.« less

  10. 78 FR 29131 - Solar Star California XX, LLC; Supplemental Notice that Initial Market-Based Rate Filing Includes...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-17

    ... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. ER13-1442-000] Solar Star California XX, LLC; Supplemental Notice that Initial Market-Based Rate Filing Includes Request for Blanket Section 204 Authorization This is a supplemental notice in the above-referenced proceeding, of Solar Star...

  11. [Enteroviruses in the XX and XXI centuries].

    PubMed

    Seĭbil', V B; Malyshkina, L P

    2005-01-01

    The modern view of the role of enteroviruses in the eradication of poliomyelitis is presented. Enteroviruses were discovered in the XX century. In the 1950s they caused great epidemics of poliomyelitis and serous meningitis in many countries of the world. The introduction of oral poliomyelitis vaccine (OPV) into medical practice made it possible to eliminate the epidemics of poliomyelitis in a short time. Poliomyelitis morbidity was reduced to sporadic cases and in a number of regions disappeared. OPV produced non-specific influence also on the epidemics of serous meningitis, as well as on a case incidence. The eradication of poliomyelitis viruses and the cessation of immunization with OPV will not result in eradication of paralytic diseases. Paralytogenic viruses of 20 serotypes circulate in nature, and some of these viruses are capable of causing the outbreaks of severe paralytic diseases. The authors propose either to retain immunization with OVP as tour immunizations with monovaccine of type 2, or to create new live enterovirus vaccines on the basis of avirulent enterovirus strains.

  12. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.

    PubMed

    Baldinotti, Fulvia; Cavallaro, Tiziana; Dati, Eleonora; Baroncelli, Giampiero I; Bertini, Veronica; Valetto, Angelo; Massart, Francesco; Fabrizi, Gian Maria; Zanette, Giampietro; Peroni, Diego; Bertelloni, Silvano

    2018-01-01

    In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed. A comparative genomic hybridization array was also performed. In both the 46,XY and 46,XX sisters, a homozygous c.554C>A mutation in exon 2 of the DHH gene was found, determining a premature termination codon (p.Ser 185*). Heterozygous consanguineous carrier parents showed neither reproductive problems nor peripheral neuropathy. In the proband and her sister, a 499-kb duplication in 9p22.1 was also found. A 46,XY European woman with 46,XY GD and a novel homozygous DHH pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development. Her 46,XX sister, harboring the same mutation, showed normal internal and external female phenotype. Thus, DHH seems not to be involved in the ovarian development pathway or its postpubertal function. Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes. © 2018 S. Karger AG, Basel.

  13. Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18.

    PubMed

    Shah, Sujal I; Dyer, Lisa; Stanek, Jerzy

    2018-01-01

    Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to be examined to show if the histology is specific for

  14. Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18

    PubMed Central

    2018-01-01

    Background Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. Conclusion In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to be examined to show if

  15. Laser gain on 3p-3d and 3s-3p transitions and X-ray line ratios for the nitrogen isoelectronic sequence

    NASA Technical Reports Server (NTRS)

    Feldman, U.; Seely, J. F.; Bhatia, A. K.

    1989-01-01

    Results are presented on calculations of the 72 levels belonging to the 2s(2)2p(3), 2s2p(4), 2p(5), 2s(2)2p(2)3s, 2s(2)2p(2)3p, and 2s(2)2p(2)3d configurations of the N I isoelectronic sequence for the ions Ar XII, Ti XVI, Fe XX, Zn XXIV, and Kr XXX, for electron densities up to 10 to the 24th/cu cm. It was found that large population inversions and gain occur between levels in the 2s(2)2p(2)3p configuration and levels in the 2s(2)2p(2)3d configuration that cannot decay to the ground configuration by an electric dipole transition. For increasing electron densities, the intensities of the X-ray transitions from the 2s(2)2p(2)3p configuration to the ground configuration decrease relative to the transitions from the 2s(2)2p(2)3s and 2s(2)2p(2)3d configurations to the ground configuration. The density dependence of these X-ray line ratios is presented.

  16. Controlling measurement-induced nonlocality in the Heisenberg XX model by three-spin interactions

    NASA Astrophysics Data System (ADS)

    Xie, Yu-Xia; Sun, Yu-Hang; Li, Zhao

    2018-01-01

    We investigate the well-defined measures of measurement-induced nonlocality (MIN) for thermal states of the transverse field XX model, with the addition of three-spin interaction terms being introduced. The results showed that the MINs are very sensitive to system parameters of the chain. The three-spin interactions can serve as flexible parameters for enhancing MINs of the boundary spins, and the maximum enhancement achievable by varying strengths of the three-spin interactions are different for the chain with different number of spins.

  17. Pedagogical Foundations of Effective Reading Instruction Older Students in Russia in the Late XIX-Early XX Centuries

    ERIC Educational Resources Information Center

    Belentsov, Sergei I.; Malykhina, Olga N.; Ilyina, Irina V.; Mandruk, Irina V.

    2018-01-01

    Topical issues of development of reader's activity of school students are considered on the basis of the comparative analysis of the situation characterizing a technique of formation of communicative competence of the system of gymnasia formation of the Kursk province of the end XIX--the beginning of the XX centuries. The comparative-historical…

  18. Age, experience and genetic background influence treadmill walking in mice

    PubMed Central

    Wooley, Christine M.; Xing, Shuqin; Burgess, Robert W.; Cox, Gregory A.; Seburn, Kevin L.

    2009-01-01

    WOOLEY, C.M., S. XING, R.W. BURGESS, G.A. COX, AND K.L. SEBURN. Age, experience and genetic background influence treadmill walking in mice. PHYSIOL. BEHAV. XX(X), XXX-XXX, 2008 – The use of a treadmill to gather data for gait analysis in mice is a convenient, sensitive method to evaluate motor performance. However, evidence from several species, including mice, shows that treadmill locomotion is a novel task that is not equivalent to over ground locomotion and that may be particularly sensitive to the test environment and protocol. We investigated the effects of age, genetic background and repeated trials on treadmill walking in mice and show that these factors are important considerations in the interpretation of gait data. Specifically we report that as C57BL/6J (B6) mice age, the animals use progressively longer, less frequent strides to maintain the same walking speed. The increase is most rapid between 1 and 6 months of age and is explained, in part, by changes in size and weight. We also extended previous findings showing that repeat trials cause mice to modify their treadmill gait pattern. In general, B6 mice tend to take shorter, more frequent steps and adopt a wider dynamic stance with repeated walking trials. The nature and extent of the response changes with both the number and timing of the trials and was observed with inter-trial intervals as long as 3 months. Finally, we compared the gait pattern of an additional seven inbred strains of mice and found significant variation in the length and frequency of strides used to maintain the same walking speed. The combined results offer the bases for further mechanistic studies and can be used to guide optimal experimental design. PMID:19027767

  19. A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

    PubMed Central

    XIA, XIN-YI; ZHANG, CUI; LI, TIAN-FU; WU, QIU-YUE; LI, NA; LI, WEI-WEI; CUI, YING-XIA; LI, XIAO-JUN; SHI, YI-CHAO

    2015-01-01

    The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex-determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin-fixed and paraffin-embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY-box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY-negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that other

  20. A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

    PubMed

    Xia, Xin-Yi; Zhang, Cui; Li, Tian-Fu; Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Cui, Ying-Xia; Li, Xiao-Jun; Shi, Yi-Chao

    2015-10-01

    The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex‑determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin‑fixed and paraffin‑embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY‑box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY‑negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that

  1. Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

    PubMed

    López-Hernández, Berenice; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Benítez-Granados, Jesús; Zenteno, Juan Carlos; Villegas-Ruiz, Vanessa; Calzada-León, Raúl; Soderlund, Daniela; Canto, Patricia

    2018-04-04

    The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed. The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between -1007 and -1500 kb upstream. A qRT-PCR analysis showed a duplication of at least -581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients. This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene. Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  2. [The scientific revolution in medicine of second half of XX - early XXI centuries: occurrence of new conceptions about human organism and essence of diseases].

    PubMed

    Stepin, V S; Zatravkin, S N

    2016-01-01

    The article presents the results of analysis of works of supreme Russian physiologists and pathologists of XX-XXI centuries. The analysis was applied on the basis concept of structure and dynamics of scientific cognition developed by one o the authors of the present article. The applied analysis permits affirming that during second half of XX-early XXI centuries in medicine occurred and continues to occurring transformations whose character and scope totally corresponds to scientific revolution and occurring and establishing in medicine new conceptions have all signs permitting referring them to post-neoclassic type of scientific rationality.

  3. Relative dosimetrical verification in high dose rate brachytherapy using two-dimensional detector array IMatriXX

    PubMed Central

    Manikandan, A.; Biplab, Sarkar; David, Perianayagam A.; Holla, R.; Vivek, T. R.; Sujatha, N.

    2011-01-01

    For high dose rate (HDR) brachytherapy, independent treatment verification is needed to ensure that the treatment is performed as per prescription. This study demonstrates dosimetric quality assurance of the HDR brachytherapy using a commercially available two-dimensional ion chamber array called IMatriXX, which has a detector separation of 0.7619 cm. The reference isodose length, step size, and source dwell positional accuracy were verified. A total of 24 dwell positions, which were verified for positional accuracy gave a total error (systematic and random) of –0.45 mm, with a standard deviation of 1.01 mm and maximum error of 1.8 mm. Using a step size of 5 mm, reference isodose length (the length of 100% isodose line) was verified for single and multiple catheters of same and different source loadings. An error ≤1 mm was measured in 57% of tests analyzed. Step size verification for 2, 3, 4, and 5 cm was performed and 70% of the step size errors were below 1 mm, with maximum of 1.2 mm. The step size ≤1 cm could not be verified by the IMatriXX as it could not resolve the peaks in dose profile. PMID:21897562

  4. FAST20XX: Achievements On European Suborbital Space Flight

    NASA Astrophysics Data System (ADS)

    Mack, A.; Steelant, J.; Adirim, H.; Lentsch, A.; Marini, M.; Pilz, N.

    2011-05-01

    In Europe, the EC co-funded project FAST20XX aims at exploring the borderline between aviation and space by investigating suborbital vehicles. The main focus is the identification and mastering of critical technologies for such vehicles rather than the vehicle development itself. Besides the objectives and overall layout of the project, the paper addresses also the progress made during the first period of the project. Two vehicle concepts are considered. A first one is a space vehicle launched from an airplane providing a low-energy ballistic flight experience using hybrid propulsion. The second is a vertically starting two-stage rocket space vehicle system concept taken as a basis to identify the conditions and constraints experienced during high- energy suborbital ultra-fast transport. The paper mainly discusses the two actual reference vehicles and the technical aspects of prerequisites for commercial operation including safety, human spaceflight, business cases, environmental and legal issues.

  5. On a class of nonlinear dispersive-dissipative interactions

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rosenau, P.

    1997-07-29

    The authors study the prototypical, genuinely nonlinear, equation; u{sub t} + a(u{sup m}){sub x} + (u{sup n}){sub xxx} = {mu}(u{sup k}){sub xx}, a, {mu} = consts., which encompasses a wide variety of dissipative-dispersive interactions. The parametric surface k = (m + n)/2 separates diffusion dominated from dissipation dominated phenomena. On this surface dissipative and dispersive effects are in detailed balance for all amplitudes. In particular, the m = n + 2 = k + 1 subclass can be transformed into a form free of convection and dissipation making it accessible to theoretical studies. Both bounded and unbounded oscillations are foundmore » and certain exact solutions are presented. When a = (2{mu}3/){sup 2} the map yields a linear equation; rational, periodic and aperiodic solutions are constructed.« less

  6. Magnetic proximity effect and shell-ferromagnetism in metastable Ni50Mn45Ga5

    NASA Astrophysics Data System (ADS)

    Krenke, Thorsten; ćakır, Aslı; Scheibel, Franziska; Acet, Mehmet; Farle, Michael

    2016-12-01

    The present study on magnetic and structural properties of Ni50Mn45Ga5 confirms that structural metastability is an inherent property of Ni50Mn50-xXx Heusler alloys with X as In, Ga, and Sn. The ternary alloy transforms during temper-annealing into a dual-phase composite alloy. The two phases are identified to be cubic L21, Ni50Mn25Ga25, and tetragonal L10 Ni50Mn50. Depending on the annealing temperature, the magnetic-proximity effect giving rise to shell-ferromagnetism has been observed when annealing is carried out under an external magnetic field. The upper and lower remanence values MR+ and MR- have the same sign even at high temperatures. Such alloys can be promising candidates for heat- and magnetic-field-resistant magnetic recording media.

  7. 26 CFR 1.381(c)(1)-1 - Net operating loss carryovers in certain corporate acquisitions.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ...) 1956 ($35,000) ($5,000) Ending 12-16-57 (30,000) xxx 1957 xxx 36,500 (ii) The aggregate of the net... Corporation (acquirer) 1954 ($5,000) xxx 1955 (15,000) xxx 1956 (10,000) $20,000 1957 xxx 40,000 (ii) The...-56 (1,000) (9,000) xxx 1956 xxx xxx 73,200 (ii) The aggregate of the net operating loss carryovers of...

  8. 26 CFR 1.381(c)(1)-1 - Net operating loss carryovers in certain corporate acquisitions.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ...) 1956 ($35,000) ($5,000) Ending 12-16-57 (30,000) xxx 1957 xxx 36,500 (ii) The aggregate of the net... Corporation (acquirer) 1954 ($5,000) xxx 1955 (15,000) xxx 1956 (10,000) $20,000 1957 xxx 40,000 (ii) The...-56 (1,000) (9,000) xxx 1956 xxx xxx 73,200 (ii) The aggregate of the net operating loss carryovers of...

  9. 26 CFR 1.381(c)(1)-1 - Net operating loss carryovers in certain corporate acquisitions.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ...) 1956 ($35,000) ($5,000) Ending 12-16-57 (30,000) xxx 1957 xxx 36,500 (ii) The aggregate of the net... Corporation (acquirer) 1954 ($5,000) xxx 1955 (15,000) xxx 1956 (10,000) $20,000 1957 xxx 40,000 (ii) The...-56 (1,000) (9,000) xxx 1956 xxx xxx 73,200 (ii) The aggregate of the net operating loss carryovers of...

  10. 26 CFR 1.381(c)(1)-1 - Net operating loss carryovers in certain corporate acquisitions.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...) 1956 ($35,000) ($5,000) Ending 12-16-57 (30,000) xxx 1957 xxx 36,500 (ii) The aggregate of the net... Corporation (acquirer) 1954 ($5,000) xxx 1955 (15,000) xxx 1956 (10,000) $20,000 1957 xxx 40,000 (ii) The...-56 (1,000) (9,000) xxx 1956 xxx xxx 73,200 (ii) The aggregate of the net operating loss carryovers of...

  11. On determinant representations of scalar products and form factors in the SoV approach: the XXX case

    NASA Astrophysics Data System (ADS)

    Kitanine, N.; Maillet, J. M.; Niccoli, G.; Terras, V.

    2016-03-01

    In the present article we study the form factors of quantum integrable lattice models solvable by the separation of variables (SoVs) method. It was recently shown that these models admit universal determinant representations for the scalar products of the so-called separate states (a class which includes in particular all the eigenstates of the transfer matrix). These results permit to obtain simple expressions for the matrix elements of local operators (form factors). However, these representations have been obtained up to now only for the completely inhomogeneous versions of the lattice models considered. In this article we give a simple algebraic procedure to rewrite the scalar products (and hence the form factors) for the SoV related models as Izergin or Slavnov type determinants. This new form leads to simple expressions for the form factors in the homogeneous and thermodynamic limits. To make the presentation of our method clear, we have chosen to explain it first for the simple case of the XXX Heisenberg chain with anti-periodic boundary conditions. We would nevertheless like to stress that the approach presented in this article applies as well to a wide range of models solved in the SoV framework.

  12. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

    PubMed

    Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

    2015-04-01

    SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  13. 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.

    PubMed

    Li, Tian-Fu; Wu, Qiu-Yue; Zhang, Cui; Li, Wei-Wei; Zhou, Qing; Jiang, Wei-Jun; Cui, Ying-Xia; Xia, Xin-Yi; Shi, Yi-Chao

    2014-12-22

    46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomastia who referred to our hospital because of abnormal gender characteristics. The patient was treated for congenital scrotal type hypospadias at the age of 4 years. Semen analysis indicated azoospermia by centrifugation of ejaculate. Levels of follicle-stimulating hormone and luteinizing hormone were elevated, while that of testosterone was low and those of estradiol and prolactin were normal. The results of gonadal biopsy showed hyalinization of the seminiferous tubules, but there was no evidence of spermatogenic cells. Karyotype analysis of the patient confirmed 46,XX karyotype and fluorescent in situ hybridization analysis of the sex-determining region Y (SRY) gene was negative. Molecular analysis revealed that the SRY gene and the AZFa, AZFb and AZFc regions were absent. No mutation was detected in the coding region and exon/intron boundaries of the RSPO1, DAX1, SOX9, SOX3, SOX10, ROCK1, and DMRT genes, and no copy number variation in the whole genome sequence was found. This study adds a new case of SRY-negative 46,XX testicular disorder of sex development and further verifies the view that the absence of major regions from the Y chromosome leads to an incomplete masculine phenotype, abnormal hormone levels and infertility. To date, the mechanisms for induction of testicular tissue in 46,XX SRY-negative patients remain unknown, although other genetic or environmental factors play a significant role in the regulation of sex determination and differentiation.

  14. Inverse participation ratios in the XX spin chain

    NASA Astrophysics Data System (ADS)

    Tsukerman, Emmanuel

    2017-03-01

    We continue the study of the inverse participation ratios (IPRs) of the XXZ Heisenberg spin chain initiated by Stéphan, Furukawa, Misguich, and Pasquier (2009) and continued by Misguich, Pasquier, and Luck (2016) by focusing on the case of the XX Heisenberg spin chain. For the ground state, Stéphan et al. note that calculating the IPR is equivalent to Dyson's constant term ex-conjecture. We express the IPRs of excited states as an apparently new "discrete" Hall inner product. We analyze this inner product using the theory of symmetric functions (Jack polynomials, Schur polynomials, the standard Hall inner product, and ωq ,t) to determine some exact expressions and asymptotics for IPRs. We show that IPRs can be indexed by partitions, and asymptotically the IPR of a partition is equal to that of the conjugate partition. We relate the IPRs to two other models from physics, namely, the circular symplectic ensemble of Dyson and the Dyson-Gaudin two-dimensional Coulomb lattice gas. Finally, we provide a description of the IPRs in terms of a signed count of diagonals of permutohedra.

  15. A case-control study of brain structure and behavioral characteristics in 47,XXX Syndrome

    PubMed Central

    Lenroot, Rhoshel K.; Blumenthal, Jonathan D.; Wallace, Gregory L.; Clasen, Liv S.; Lee, Nancy Raitano; Giedd, Jay N.

    2014-01-01

    Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, s.d. 5.5) and 70 age- and sex- matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders, (40%), Attention-Deficit Disorder (17%), and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function, and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample. PMID:25287572

  16. Registration of Seven Sugarbeet Germplasms Selected from Crosses between Cultivated Sugarbeet and Wild Beta Species

    USDA-ARS?s Scientific Manuscript database

    Seven sugarbeet (Beta vulgaris L.) germplasm lines, F1017 (GP-xxx, PIxxxxxx), F1018 (GP-xxx, PIxxxxxx), F1019 (GP-xxx, PIxxxxxx), F1020 (GP-xxx, PIxxxxxx), F1021 (GP-xxx, PIxxxxxx), F1022 (GP-xxx, PIxxxxxx), and F1023 (GP-xxx, PIxxxxxx) were released 23 February 2009 by the USDA-ARS and the North Da...

  17. The open XXX spin chain in the SoV framework: scalar product of separate states

    NASA Astrophysics Data System (ADS)

    Kitanine, N.; Maillet, J. M.; Niccoli, G.; Terras, V.

    2017-06-01

    We consider the XXX open spin-1/2 chain with the most general non-diagonal boundary terms, that we solve by means of the quantum separation of variables (SoV) approach. We compute the scalar products of separate states, a class of states which notably contains all the eigenstates of the model. As usual for models solved by SoV, these scalar products can be expressed as some determinants with a non-trivial dependance in terms of the inhomogeneity parameters that have to be introduced for the method to be applicable. We show that these determinants can be transformed into alternative ones in which the homogeneous limit can easily be taken. These new representations can be considered as generalizations of the well-known determinant representation for the scalar products of the Bethe states of the periodic chain. In the particular case where a constraint is applied on the boundary parameters, such that the transfer matrix spectrum and eigenstates can be characterized in terms of polynomial solutions of a usual T-Q equation, the scalar product that we compute here corresponds to the scalar product between two off-shell Bethe-type states. If in addition one of the states is an eigenstate, the determinant representation can be simplified, hence leading in this boundary case to direct analogues of algebraic Bethe ansatz determinant representations of the scalar products for the periodic chain.

  18. 77 FR 6694 - Notice of Proposed Policy Clarification for the Registration of Aircraft to U.S. Citizen Trustees...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-09

    ... Counsel, Federal Aviation Administration. TRUST AGREEMENT THIS TRUST AGREEMENT (XXX), dated as of XXX, (the ``Agreement'') by and between XXX, a [corporation organized and existing] [limited liability company formed] \\7\\ under the laws of XXX (``Trustor''), and XXX, a XXX organized and existing under the...

  19. SU-E-T-413: Examining Acquisition Rate for Using MatriXX Ion Chamber Array to Measure HDR Brachytherapy Treatments

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wagar, M; Bhagwat, M; O’Farrell, D

    2015-06-15

    Purpose: There are unique obstacles to implementing the MatriXX ionchamber array as a QA tool in Brachytherapy given that the device is designed for use in the MV energy range. One of the challenges we investigate is the affect of acquisition rates on dose measurement accuracy for HDR treatment plans. Methods: A treatment plan was optimized in Oncentra Brachy TPS to deliver a planar dose to a 5×5cm region at 10mm depth. The applicator was affixed to the surface of the MatriXX array. The plan was delivered multiple times using a Nucleatron HDR afterloader with a 2.9Ci Ir192 source. Formore » each measurement the sampling rate of the MatriXX movie mode was varied (30ms and 500ms). This experiment was repeated with identical parameters, following a source exchange, with an 11.2Ci Ir192 source. Finally, a single snap measurement was acquired. Analysis was preformed to evaluate the fidelity of the dose delivery for each iteration of the experiment. Evaluation was based on the comparison between the measured and TPS predicted dose. Results: Higher sample rates induce a greater discrepancy between the predicted and measured dose. Delivering the plan using a lower activity source also produced greater discrepancy in the measurement due to the increased delivery time. Analyzing the single snap measurement showed little difference from the 500ms integral dose measurement. Conclusion: The advantage of using movie mode for HDR treatment delivery QA is the ability for real time source tracking in addition to dose measurement. Our analysis indicates that 500ms is an optimal frame rate.« less

  20. What Does f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] Greater than 0 "Really" Mean?

    ERIC Educational Resources Information Center

    McCartin, Brian J.

    2008-01-01

    This note presents geometric and physical interpretations of the sufficient condition for a critical point to be a strict relative extremum: f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] greater than 0. The role of the double derivative f[subscript xy] in this inequality will be highlighted in these interpretations. (Contains 14…

  1. Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia

    PubMed Central

    Gangaher, Arushi; Jyotsna, Viveka P.; Chauhan, Vasundhera; John, Jomimol; Mehta, Manju

    2016-01-01

    Background: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. Materials and Methods: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. Results: We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Conclusion: Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences. PMID:27867895

  2. Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia.

    PubMed

    Gangaher, Arushi; Jyotsna, Viveka P; Chauhan, Vasundhera; John, Jomimol; Mehta, Manju

    2016-01-01

    In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.

  3. Androgen induces gonadal soma-derived factor, Gsdf, in XX gonads correlated to sex-reversal but not Dmrt1 directly, in the teleost fish, northern medaka (Oryzias sakaizumii).

    PubMed

    Horie, Yoshifumi; Myosho, Taijun; Sato, Tadashi; Sakaizumi, Mitsuru; Hamaguchi, Satoshi; Kobayashi, Tohru

    2016-11-15

    In the inbred HNI-II strain of Oryzias sakaizumii, Dmy and Gsdf are expressed in XY gonads from Stages 35 and 36, respectively, similarly to the inbred Hd-rR strain of Oryzias latipes. However, Dmrt1 respectively becomes detectable at Stage 36 and 5 days post hatching (dph) in the two strains. In XX HNI-II embryos, 17α-methyltestosterone (MT) induces Gsdf mRNA from Stage 36, accompanied by complete sex-reversal in all treated individuals (MT, 10 ng/mL), while Dmrt1 mRNA was first detectable at 5 dph. In XX d-rR, MT induced Gsdf mRNA expression and sex-reversal in only some of the treated individuals. Together, these results suggest the testis differentiation cascade in XY individuals differs between the HNI-II and Hd-rR strains. In addition, it is suggested that androgen-induced XX sex-reversal proceeds via an androgen-Gsdf-Dmrt1 cascade and that Gsdf plays an important role in sex-reversal in medaka. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.

    PubMed

    Ryan, Neil A J; Akbar, Shahnaz

    2013-04-01

    To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals. Case report with expert consensus-derived clinical management guidance. Fertility outpatient clinic at a tertiary referral center. A 40-year-old male found to have 46,XX disorder of sex development (DSD) on routine fertility screening. A review of the literature, expert consultation, and formulation of comprehensive clinical guidance. We report an interesting and rare case of a phenotypical male with the karyotype 46,XX DSD without an SRY region. There is limited literature exploring this condition, and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition. A male phenotype with a 46 karyotype without the sex-defining region of the Y chromosome. A multidisciplinary approach should be adopted in the management of 46,XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46,XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and T supplementation. Psychological support is a key part of a holistic approach. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome.

    PubMed

    Lenroot, R K; Blumenthal, J D; Wallace, G L; Clasen, L S; Lee, N R; Giedd, J N

    2014-11-01

    Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

  6. Low-level 45,X/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study.

    PubMed

    Klásková, E; Tüdös, Z; Sobek, A; Zapletalová, J; Dostál, J; Zbořilová, B; Sobek, A; Adamová, K; Lattová, V; Dostálová, Z; Procházka, M

    2015-06-01

    To establish the prevalence of risk factors for aortic dissection, such as bicuspid aortic valve, aortic coarctation and ascending aorta dilatation, in women with low-level 45,X/46,XX mosaicism undergoing an in-vitro fertilization (IVF) procedure. The study group comprised 25 women with low-level 45,X/46,XX mosaicism (ranging from 3.3% to 10.0%) who were referred to two reproductive medicine units between 2009 and 2013 because of infertility and who underwent subsequent karyotyping. In accordance with the recommendation of the Practice Committee of the American Society for Reproductive Medicine for patients with Turner syndrome (TS), prior to the IVF procedure, all women underwent careful cardiovascular screening for congenital heart disease and thoracic aorta dilatation, including standard cardiac examination, echocardiography and non-contrast cardiac magnetic resonance imaging. Aortic size index (ASI, diameter of the ascending aorta normalized to body surface area) and the prevalence of coarctation of the aorta and of bicuspid aortic valve were compared with findings previously reported in women with TS and the general population. Bicuspid aortic valve without any stenosis or regurgitation was found in one woman in the study group with low-level 45,X/46,XX mosaicism, a statistically significantly lower prevalence of bicuspid aortic valve than that reported in women with TS. Aortic coarctation was not identified in any individual. The ASI was below the  95th percentile in all cases and the mean value was significantly lower than the mean reference values for both the general population and women with TS. Compared with the general population, the prevalence of risk factors for aortic dissection was not found to be higher in women with low-level 45,X/46,XX mosaicism without any noticeable features except infertility. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  7. High reliability and high performance of 9xx-nm single emitter laser diodes

    NASA Astrophysics Data System (ADS)

    Bao, L.; Leisher, P.; Wang, J.; Devito, M.; Xu, D.; Grimshaw, M.; Dong, W.; Guan, X.; Zhang, S.; Bai, C.; Bai, J. G.; Wise, D.; Martinsen, R.

    2011-03-01

    Improved performance and reliability of 9xx nm single emitter laser diodes are presented. To date, over 15,000 hours of accelerated multi-cell lifetest reliability data has been collected, with drive currents from 14A to 18A and junction temperatures ranging from 60°C to 110°C. Out of 208 devices, 14 failures have been observed so far. Using established accelerated lifetest analysis techniques, the effects of temperature and power acceleration are assessed. The Mean Time to Failure (MTTF) is determined to be >30 years, for use condition 10W and junction temperature 353K (80°C), with 90% statistical confidence.

  8. Tuning diagonal components of static linear and first nonlinear polarizabilities of doped quantum dots by Gaussian white noise

    NASA Astrophysics Data System (ADS)

    Ganguly, Jayanta; Ghosh, Manas

    2015-07-01

    We investigate the modulation of diagonal components of static linear (αxx, αyy) and first nonlinear (βxxx, βyyy) polarizabilities of quantum dots by Gaussian white noise. Quantum dot is doped with impurity represented by a Gaussian potential and repulsive in nature. The study reveals the importance of mode of application of noise (additive/multiplicative) on the polarizability components. The doped system is further exposed to a static external electric field of given intensity. As important observation we have found that the strength of additive noise becomes unable to influence the polarizability components. However, the multiplicative noise influences them conspicuously and gives rise to additional interesting features. Multiplicative noise even enhances the magnitude of the polarizability components immensely. The present investigation deems importance in view of the fact that noise seriously affects the optical properties of doped quantum dot devices.

  9. Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.

    PubMed

    Buscara, Laurine; Montazer-Torbati, Fatemeh; Chadi, Sead; Auguste, Aurélie; Laubier, Johann; Chassot, Anne-Amandine; Renault, Lauriane; Passet, Bruno; Costa, José; Pannetier, Maëlle; Vilotte, Marthe; Chaboissier, Marie-Christine; Vilotte, Jean-Luc; Pailhoux, Eric; Le Provost, Fabienne

    2009-08-01

    RSPO1 is a newly discovered gene involved in sex differentiation. Two goat BAC clones encompassing the RSPO1 gene (gRSPO1) were injected into mouse oocytes and several transgenic lines derived. Both clones induced gRSPO1 over-expression in various tissues, including male and female gonads, with no obvious phenotype and normal sex-ratios. Introgression of the gRSPO1 transgene into a mouse RSPO1 knockout genotype resulted in the rescue of the fertility and the disappearance of the masculinized gonadic features of the females, demonstrating the functionality of the goat protein in a mouse context. On the contrary, over-expression of gRSPO1 within a mSRY or a gSRY-XX genotypes did not interfere with the SRY-induced male phenotype.

  10. Heat capacity and monogamy relations in the mixed-three-spin XXX Heisenberg model at low temperatures

    NASA Astrophysics Data System (ADS)

    Zad, Hamid Arian; Movahhedian, Hossein

    2016-08-01

    Heat capacity of a mixed-three-spin (1/2,1,1/2) antiferromagnetic XXX Heisenberg chain is precisely investigated by use of the partition function of the system for which, spins (1,1/2) have coupling constant J1 and spins (1/2,1/2) have coupling constant J2. We verify tripartite entanglement for the model by means of the convex roof extended negativity (CREN) and concurrence as functions of temperature T, homogeneous magnetic field B and the coupling constants J1 and J2. As shown in our previous work, [H. A. Zad, Chin. Phys. B 25 (2016) 030303.] the temperature, the magnetic field and the coupling constants dependences of the heat capacity for such spin system have different behaviors for the entangled and separable states, hence, we did some useful comparisons between this quantity and negativities of its organized bipartite (sub)systems at entangled and separable states. Here, we compare the heat capacity of the mixed-three-spin (1/2,1,1/2) system with the CREN and the tripartite concurrence (as measures of the tripartite entanglement) at low temperature. Ground state phase transitions, and also, transition from ground state to some excited states are explained in detail for this system at zero temperature. Finally, we investigate the heat capacity behavior around those critical points in which these quantum phase transitions occur.

  11. Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.

    PubMed

    Shankara Narayana, Nandini; Kean, Anne-Maree; Ewans, Lisa; Ohnesorg, Thomas; Ayers, Katie L; Watson, Geoff; Vasilaras, Arthur; Sinclair, Andrew H; Twigg, Stephen M; Handelsman, David J

    2017-01-01

    46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal. In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis.SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function.Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone.Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones).

  12. Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.

    PubMed

    Nakashima, Shinichi; Ohishi, Akira; Takada, Fumio; Kawamura, Hideki; Igarashi, Maki; Fukami, Maki; Ogata, Tsutomu

    2014-10-01

    We report four patients with SRY-positive 46,XX testicular disorders of sex development (46,XX-TDSD) (cases 1-4). Case 1 exhibited underdeveloped external genitalia with hypospadias, case 2 manifested micropenis and cases 3 and 4 showed normal external genitalia. The Xp;Yp translocations occurred between the X- and the Y-differential regions in case 1, between PRKX and inverted PRKY in case 2 and between the X-chromosomal short arm pseudoautosomal region and the Y-differential regions in cases 3 and 4. The distance of the Yp breakpoint from SRY was ~0.75 Mb in case 1, ~6.5 Mb in case 2, ~2.3 Mb in case 3 and ~72 kb in case 4. The Xp;Yp translocation occurred within an 87-bp homologous segment of PRKX and PRKY in case 2, and between non-homologous regions with addition of an 18-bp sequence of unknown origin in case 4. X-inactivation analysis revealed random inactivation in cases 1-4. The results argue against the notion that undermasculinization in 46,XX-TDSD is prone to occur when translocated Yp materials are small (<100 kb of the Y-differential region), and imply that the Xp;Yp translocations result from several mechanisms including non-allelic homologous recombination and non-homologous end joining.

  13. Conformational Change and Epimerization of Diketopiperazines Containing Proline Residue in Water.

    PubMed

    Ishizu, Takashi; Tsutsumi, Hiroyuki; Yokoyama, Emi; Kawamoto, Haruka; Yokota, Runa

    2017-01-01

    In water, diketopiperazines cyclo(L-Pro-L-Xxx) and cyclo(L-Pro-D-Xxx) (Xxx=Phe, Tyr) formed an intramolecular hydrophobic interaction between the main skeleton part and their benzene ring, and both cyclo(L-Pro-L-Xxx) and cyclo(L-Pro-D-Xxx) took a folded conformation. The conformational changes from folded to extended conformation by addition of several deuterated organic solvents (acetone-d 6 , metanol-d 4 , dimethyl sulfoxide-d 6 (DMSO-d 6 )) and the temperature rise were investigated using 1 H-NMR spectra. The results suggested that the intrarmolecular hydrophobic interaction of cyclo(L-Pro-D-Xxx) formed more strongtly than that of cyclo(L-Pro-L-Xxx). Under a basic condition of 1.0×10 -1  mol/L potassium deuteroxide, enolization of O 1 -C 1 -C 9 -H 9 moiety of cyclo(L-Pro-L-Xxx) occurred, while that of the O 4 -C 4 -C 3 -H 3 moiety did not. Cyclo(L-Pro-L-Xxx) epimerized to cyclo(D-Pro-L-Xxx), while cyclo(L-Pro-D-Xxx) did not change.

  14. [The state of obstetrics in the national republics of North Caucasus during the first half of XX century].

    PubMed

    Iakh'iaeva, Z I; Bataev, Kh M

    2011-01-01

    In Caucasus, during the first half of XX century the organization of obstetric gynecological care of women accompanied by significant problems to be resolved in the conditions of burning deficiency of material and manpower resources. In the early 1950s the functioning of the system of obstetrics in the North Caucasus region needed more intensive organizational efforts and highest possible involvement of medical science achievements.

  15. The Effects of Training on the Attitudes of Parents and Caregivers After a Title XX Course on 'Working with Parents'.

    ERIC Educational Resources Information Center

    Van Kirk, Marilyn

    Trainees in a Title XX project were taught skills in working with parents. To measure training effectiveness, a questionnaire measuring parent attitudes toward the center and the caregivers was given to parents of center children, before and after the training. The parents indicated on the second questionnaire that they were less satisfied with…

  16. Entanglement across extended random defects in the XX spin chain

    NASA Astrophysics Data System (ADS)

    Juhász, Róbert

    2017-08-01

    We study the half-chain entanglement entropy in the ground state of the spin-1/2 XX chain across an extended random defect, where the strength of disorder decays with the distance from the interface algebraically as Δ_l∼ l-κ . In the whole regime κ≥slant 0 , the average entanglement entropy is found to increase logarithmically with the system size L as S_L≃\\frac{c_eff(κ)}{6}\\ln L+const , where the effective central charge c_eff(κ) depends on κ. In the regime κ<1/2 , where the extended defect is a relevant perturbation, the strong-disorder renormalization group method gives c_eff(κ)=(1-2κ)\\ln2 , while, in the regime κ≥slant 1/2 , where the extended defect is irrelevant in the bulk, numerical results indicate a non-zero effective central charge, which increases with κ. The variation of c_eff(κ) is thus found to be non-monotonic and discontinuous at κ=1/2 .

  17. Registration of N619 to N640 grain sorghum lines with waxy or wild-type endosperm

    USDA-ARS?s Scientific Manuscript database

    Sorghum [Sorghum bicolor (L.) Moench] lines A N619 to A N636 (Reg. No. GS-XXX, PI 670134 to Reg. No. GS-XXX, PI 670151); B N619 to B N636 (Reg. No. GS-XXX, PI 671777 to Reg. No. GS-XXX, PI 671794); and R N637 to R N640 (Reg. No. GS-XXX, PI 670152 to Reg. No. GS-XXX, PI 670155) comprise nine pairs of...

  18. A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.

    PubMed

    Mark, H F; Bai, H; Sotomayor, E; Mark, S; Zolnierz, K; Airall, E; Sigman, M

    1999-09-01

    Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with Klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of Klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with Klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic Klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis. Copyright 1999 Academic Press.

  19. An evaluation of the benefits of utilizing rapid solidification for development of 2XXX (Al-Cu-Mg) alloys

    NASA Technical Reports Server (NTRS)

    Paris, H. G.; Chellman, D. J.

    1986-01-01

    The advantages of rapid solidification processing over ingot metallurgy processing in the development of 2XXX aluminum alloy compositions were evaluated using a similarly processed ingot metallurgy (IM) control alloy. The powder metallurgy (PM) alloy extrusions showed a reduced age-hardening response in comparison with similar IM compositions, with higher tensile properties for naturally aged extrusions but lower properties for artificially aged ones. However, the tensile properties of naturally and artificially aged PM alloy extrusions based on a version of IM 2034 alloy, but containing 0.6 weight percent zirconium, were comparable to those of the IM control extrusions and had significantly superior combinations of strength and toughness. The tensile properties of this PM alloy showed even greater advantage in 6.4-mm (0.25-in.) and 1.8-mm (0.070-in.) plate and sheet, the yield strength being about 68 MPa (10 ksi) greater than reported values for the IM 2034 alloy sheet. An artificially aged PM alloy based on 2219 alloy also showed a strength and strength-toughness combination comparable to those of the PM Al-Cu-Mg-Zr alloy, substantially outperforming the IM 2219 alloy. These results show that rapid solidification offers the flexibility needed to modify conventional IM compositions to produce new alloy compositions with superior mechanical properties.

  20. Ultimate high power operation of 9xx-nm single emitter broad stripe laser diodes

    NASA Astrophysics Data System (ADS)

    Kaifuchi, Yoshikazu; Yamagata, Yuji; Nogawa, Ryozaburo; Morohashi, Rintaro; Yamada, Yumi; Yamaguchi, Masayuki

    2017-02-01

    Design optimization of single emitter broad stripe 9xx-nm laser diodes was studied to achieve ultimate high power and high efficiency operation for a use in fiber laser pumping and other industrial applications. We tuned laser vertical layer design and stripe width in terms of optical confinement as well as electrical resistance. As a result, newly designed LDs with 4mm-long cavity and 220 μm-wide stripe successfully demonstrate maximum CW output power as high as 33 W and high efficiency operation of more than 60 % PCE even at 27 W output power. In pulse measurement, the maximum output of 68 W was obtained.