Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the of the SRY (sex determining region of Y chromosome) gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Mullerian inhibiting subtance (MIS), then control the sexual differentiation of the developing fetus. SRY is a transcription factor; however, target genes for its action have yet to be identified, because the DNA recognition sequence for SRY is found in many genes. Therefore the study of intersex disorders is being used to identify other genes active in the pathway of sexual differentiation. Patients with 46,XY gonadal dysgenesis, or Swyer's syndrome, have streak gonads, normal stature, and a sexually infantile phenotype with Mullerian structures present. The inheritance is usually sporadic but can be autosomal dominant or X-linked recessive. Unlike 45,X patients, stigmata of Turner syndrome are rare. As many as 20 to 30% of patients are at risk for malignant gonadal tumor formation and should undergo gonadectomy soon after the diagnosis is made. We have experienced a case of Swyer syndrome which showed a positive SRY gene in peripheral blood and gonad. So we report this case with a brief review of literatures.
Cavalline, Tara L.;Calamusa, Jeremy T.;Kitts, Amy M.;Tempest, Brett Q.
International Journal of Concrete Structures and Materials
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v.11
no.1
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pp.85-97
/
2017
Research has suggested that conventional lightweight concrete can offer durability advantages due to reduced cracking tendency. Although a number of publications exist providing the results of laboratory-based studies on the durability performance of lightweight concrete (with lightweight coarse aggregate) and internally cured concrete (using prewetted lightweight fine aggregate), far fewer field studies of durability performance of conventional lightweight concrete bridge decks in service have been performed. This study was commissioned to provide insight to a highway agency on whether enhanced durability performance, and therefore reduced maintenance and longer lifecycles, could be anticipated from existing lightweight concrete bridge decks that were not intentionally internally cured. To facilitate performance comparison, each lightweight bridge deck selected for inclusion in this study was paired with a companion normalweight bridge deck on a bridge of similar structural type, deck thickness, and geometric configuration, with similar age, traffic, and environmental exposure. The field-observed cracking of the decks was recorded and evaluated, and crack densities for transverse, longitudinal, and pattern cracking of the normalweight and lightweight deck in each pair were compared. Although some trends linking crack prevalence to geographic location, traffic, and age were observed, a distinct difference between the cracking present in the paired lightweight and normalweight bridge decks included in this study was not readily evident. Statistical analysis using analysis of covariance (ANCOVA) to adjust for age and traffic influence did not indicate that the type of concrete deck (lightweight or normalweight) is a statistically significant factor in the observed cracking. Therefore, for these service environments, lightweight decks did not consistently demonstrate reduced cracking.
Hatherly Peter;Medhurst Terry;Sliwa Renate;Turner Roland
Geophysics and Geophysical Exploration
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v.8
no.1
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pp.112-117
/
2005
Geophysical logging is routinely undertaken as part of most coal mine exploration programs. Currently, the main application for the logs is to determine coal seam depth and to qualitatively estimate coal quality, lithology, and rock strength. However, further information can be obtained, if quantitative log interpretation is made. To assist in the uptake of quantitative interpretation, we discuss log responses in terms of the mineralogy of the clastic sedimentary rocks frequently found in the Australian black coal mining areas of the Sydney and Bowen Basins. We find that the log responses can be tied to the mineralogy with reasonable confidence. Ambiguities in the interpretation will be better resolved if a full suite of logs is run. A method for checking for internal consistency, by comparing calculated and observed velocities, is also described. A key driver for quantitative interpretation is geotechnical characterisation. We propose a classification system for clastic rocks that takes into consideration physical rock properties that can be inferred from geophysical logs.
Allan-Blitz, Lao-Tzu;Goldbeck, Cameron;Hertlein, Fred;Turner, Isaac;Klausner, Jeffrey D.
Journal of Preventive Medicine and Public Health
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v.54
no.3
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pp.161-165
/
2021
Objectives: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spreads heterogeneously, disproportionately impacting poor and minority communities. The relationship between poverty and race is complex, with a diverse set of structural and systemic factors driving higher rates of poverty among minority populations. The factors that specifically contribute to the disproportionate rates of SARS-CoV-2 infection, however, are not clearly understood. Methods: We evaluated SARS-CoV-2 test results from community-based testing sites in Los Angeles, California, between June and December, 2020. We used tester zip code data to link those results with United States Census report data on average annual household income, rates of healthcare coverage, and employment status by zip code. Results: We analyzed 2 141 127 SARS-CoV-2 test results, of which 245 154 (11.4%) were positive. Multivariable modeling showed a higher likelihood of SARS-CoV-2 test positivity among Hispanic communities than among other races. We found an increased risk for SARS-CoV-2 positivity among individuals from zip codes with an average annual household income
Jo, Hyen Chul;Park, Ji Kwon;Baek, Jong Chul;Park, Ji Eun;Kang, Min Young;Cho, In Ae
Journal of Genetic Medicine
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v.16
no.1
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pp.10-14
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2019
Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.
Background: This study is aimed at identifying the anti-inflammatory properties of 70% ethanol extract produced from an edible brown seaweed Sargassum horneri (SJB-SHE) with industrial-scale production by Seojin Biotech Co. Ltd. S. horneri is a rich source of nutrient and abundantly growing along the shores of Jeju, South Korea. Methods: Here, we investigated the effect of SJB-SHE on LPS-activated RAW 264.7 macrophages. The cytotoxicity and NO production of SJB-SHE were evaluated using MTT and Griess assays, respectively. Additionally, protein expression and gene expression levels were quantified using ELISA, Western blots, and RT-qPCR. Results: Our results indicated that pre-treatment of RAW 264.7 macrophages with SJB-SHE significantly inhibited LPS-induced NO and $PGE_2$ production. SJB-SHE downregulated the proteins and genes expression of LPS-induced iNOS and COX2. Additionally, SJB-SHE downregulated LPS-induced production of pro-inflammatory cytokines (tumor necrosis factor-${\alpha}$, interleukin (IL)-6, and IL-$1{\beta}$). Furthermore, SJB-SHE inhibited nuclear factor kappa-B (NF-${\kappa}B$) activation and translocation to the nucleus. SJB-SHE also suppressed the phosphorylation of mitogen-activated protein kinases (ERK1/2 and JNK). Conclusions: Collectively, our results demonstrated that SJB-SHE has a potential anti-inflammatory property to use as a functional food ingredient in the future.
This study explored the internal world through sandplay therapy for an elementary school boy who had social and emotional difficulties of poor peer relations, anxiety and withdrawal. This study examined the changing processes of sandboxes, how a boy expressed his internal world by the content themes in sandplay according to Turner (2009) based on analytical psychology and sandplay theories. There were 72 sessions. The initial phase was 1-6 (The beginning of war) expressing confusing wars as the start of a long internal journey. The intermediate phase was 7-55 (Struggle), dividing by phase I 7-18 (Hero's fight I), phase II 19-36 (Hero's fight II), phase III 37-48 (Seeking for a male identity), and phase IV 49-55 (Centering). The client identified himself as a teenaged hero and expressed the conflict between good and bad, between death and rebirth and struggled for seeking treasures in the fight of heroes. He found identity as a male by finding a sense of existence, establishing order in the middle of confusion, and expressing strong and rational masculinity. The final phase was 56-72 (The winner of the struggle). In the fights repeating, he expressed an adventurous and positive male energy such as racing, speed contests and a union in the opposites of hero and heroine as well as the birth of a new conscious. This study provides a basic knowledge of educational guidance in school and counseling fields by expanding the understanding of a boy's unconsciousness.
Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.
Harris, William S.;Choi, Jin Ouk;Lim, Jaewon;Lee, Yong-Cheol
International conference on construction engineering and project management
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2022.06a
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pp.923-928
/
2022
Wildfire disasters in the United States impact lives and livelihoods by destroying private homes, businesses, community facilities, and infrastructure. Disaster victims suffer from damaged houses, inadequate shelters, inoperable civil infrastructure, and homelessness coupled with long-term recovery and reconstruction processes. Cities and their neighboring communities require an enormous commitment for a full recovery for as long as disaster recovery processes last. State, county, and municipal governments inherently have the responsibility to establish and provide governance and public services for the benefit and well being of community members. Municipal governments' comprehensive and emergency response plans are the artifacts of planning efforts that guide accomplishing those duties. Typically these plans include preparation and response to natural disasters, including wildfires. The standard wildfire planning includes and outlines (1) a wildfire hazard assessment, (2) response approaches to prevent human injury and minimize damage to physical property, and (3) near- and long-term recovery and reconstruction efforts. There is often a high level of detail in the assessment section, but the level of detail and specificity significantly lessons to general approaches in the long-term recovery subsection. This paper aims to document the extent of wildfire preparedness at the county level in general, focusing on the long-term recovery subsections of municipal plans. Based on the identified challenges, the researchers provide recommendations for better longer-term recovery and reconstruction opportunities: 1) building permit requirements, 2) exploration of the use of modular construction, 3) address through relief from legislative requirements, and 4) early, simple, funding, and the aid application process.
Sachini N.K. Kodithuwakku Arachchige;Harish Chander;Alana J. Turner;Alireza Shojaei;Adam C. Knight;Aaron Griffith;Reuben F. Burch;Chih-Chia Chen
Safety and Health at Work
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v.14
no.3
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pp.303-308
/
2023
Background: Occupational workers at altitudes are more prone to falls, leading to catastrophic outcomes. Acrophobia, height-related anxiety, and affected executive functions lead to postural instabilities, causing falls. This study investigated the effects of repeated virtual height exposure and training on cognitive processing and height-related anxiety. Methods: Twenty-eight healthy volunteers (age 20.48 ± 1.26 years; mass 69.52 ± 13.78 kg) were recruited and tested in seven virtual environments (VE) [ground (G), 2-story altitude (A1), 2-story edge (E1), 4-story altitude (A2), 4-story edge (E2), 6-story altitude (A3), and 6-story edge (E3)] over three days. At each VE, participants identified occupational hazards present in the VE and completed an Attitude Towards Heights Questionnaire (ATHQ) and a modified State-Trait Anxiety Inventory Questionnaire (mSTAIQ). The number of hazards identified and the ATHQ and mSTAIQ scores were analyzed using a 7 (VE; G, A1, A2, A3, E1, E2, E3) x 3 (DAY; DAY 1, DAY 2, DAY 3) factorial repeated measures analysis of variance. Results: The participants identified the lowest number of hazards at A3 and E3 VEs and on DAY 1 compared to other VEs and DAYs. ATHQ scores were lowest at G, A1, and E1 VEs. Conclusion: Cognitive processing is negatively affected by virtual altitudes, while it improves with short-term training. The features of virtual reality, such as higher involvement, engagement, and reliability, make it a better training tool to be considered in ergonomic settings. The findings of this study will provide insights into cognitive dual-tasking at altitude and its challenges, which will aid in minimizing occupational falls.
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