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Relevant bibliographies by topics / Human abnormalities

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Academic literature on the topic 'Human abnormalities'

Author: Grafiati

Published: 4 June 2021

Last updated: 29 July 2024

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Journal articles on the topic "Human abnormalities"

1

Winter, Robin M. "Analysing human developmental abnormalities." BioEssays 18, no. 12 (December 1996): 965–71. http://dx.doi.org/10.1002/bies.950181206.

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Benirschke, Kurt. "Abnormalities of the Human Placenta." NeoReviews 6, no. 9 (September 2005): e414-e423. http://dx.doi.org/10.1542/neo.6-9-e414.

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Munne, S. "Chromosome abnormalities in human embryos." Human Reproduction Update 4, no. 6 (November 1, 1998): 842–55. http://dx.doi.org/10.1093/humupd/4.6.842.

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McFadden, Deborah E., and J. M. Friedman. "Chromosome abnormalities in human beings." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 396, no. 1-2 (December 1997): 129–40. http://dx.doi.org/10.1016/s0027-5107(97)00179-6.

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Ferguson-Smith, M. A. "Abnormalities of human sex determination." Journal of Inherited Metabolic Disease 15, no. 4 (July 1992): 518–25. http://dx.doi.org/10.1007/bf01799610.

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Tsokos, G. C. "Lymphocyte abnormalities in human lupus." Clinical Immunology and Immunopathology 63, no. 1 (April 1992): 7–9. http://dx.doi.org/10.1016/0090-1229(92)90083-z.

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Linker-Israeli, Mariana. "Cytokine abnormalities in human lupus." Clinical Immunology and Immunopathology 63, no. 1 (April 1992): 10–12. http://dx.doi.org/10.1016/0090-1229(92)90084-2.

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Chung, Sung Ik, Sang Heun Baik, and Hong Tage Kim. "Chromosomal Abnormalities in Human Hepatoma." Korean Journal of Physical Anthropology 8, no. 2 (1995): 185. http://dx.doi.org/10.11637/kjpa.1995.8.2.185.

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Dadoune, J. P. "Ultrastructural abnormalities of human spermatozoa*." Human Reproduction 3, no. 3 (April 1988): 311–18. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136701.

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Björntorp, Per. "Neuroendocrine abnormalities in human obesity." Metabolism 44 (February 1995): 38–41. http://dx.doi.org/10.1016/0026-0495(95)90208-2.

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Dissertations / Theses on the topic "Human abnormalities"

1

Martini, Elena. "Chromosomal abnormalities in human gametes." Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.

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Atia, Tarek A. "Investigation of human subtelomeric cytogenic abnormalities." Thesis, University of Nottingham, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272765.

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Ben, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.

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Studies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]

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Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.

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Bibliography: leaves 135-151. A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head.

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Heydenrych, Joan Ingrid. "Certain congenital anomalies : some psycho-social implications in adulthood." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/17157.

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Bibliography: pages 195-202.
This study is an investigation of some psycho-social implications in adulthood of being born with a congenital anomaly. The congenital anomalies - oesophageal atresia, Hirschsprung's disease and high anorectal malformations are surgically corrected at birth, but can be associated with residual problems. These problems could put patients at risk for psycho-social maladjustment. The three anomaly groups were seen to represent varying degrees of severity. The oesophageal atresia respondents represented the no to mild disability/residual problems group. Those who had Hirschsprung's disease represented the moderate disability/residual problem group. The high anorectal malformation respondents' represented the severe disability/residual problem group. The research hypothesis is that the severity of residual problems and psycho-social functioning will be directly proportional to each other, i.e. the more severe the handicap, the poorer the psycho-social functioning. A research study was conducted on 38 adult patients whose congenital anomalies were surgically corrected at The Red Cross War Memorial Children's Hospital. The research methods used were a descriptive survey method and a case-study method. The former involved three self-administered questionnaires. Information obtained concerned demographic, socio-economic, family background, medical and psycho-social problem data. An in-depth case-study was conducted with one respondent from each anomaly group. Information was obtained concerning the effect that residual problems had had on various aspects of patients' lives. Data was analysed descriptively. The findings of the study supported the research hypothesis, the medical prognosis and on the whole agreed with the literature. Severity of residual problems was found to be directly related to psycho-social functioning. Patients with severe disability/residual problems were experiencing the most psycho-social problems, those who had moderate disability/residual problems were found to have some psycho-social disability/residual problems, whereas those with mild disability/residual problems were found to have few or no psycho-social problems. Self-esteem, depression, interpersonal relationships and restricted social functioning were the psycho-social aspects found to be most affected by residual problems. The study revealed gaps in both medical and social work services for these patients in terms of ongoing follow-up services. Recommendation to improve these services have been proposed.

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Clouston, Hazel J. "An investigation of chromosome abnormalities in the human blastocyst." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397361.

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James, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.

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Lahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities." Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.

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Al, farawati Samer. "Analysis of chromosomal abnormalities in human oocytes and embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:da17212b-2713-4e6e-846a-e71549d6eb2f.

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The chromosome constitution of human cleavage stage embryos has been extensively investi-gated using a variety of techniques, revealing high levels of aneuploidy and mosaicism. However, the final phase of preimplantation development, the blastocyst stage has received relatively little attention mostly because it is only recently that embryo culture has become sufficiently well optimised to reliabley generate blastocysts. One of the aims of this study was to examine blastocyst cytogenetics, characterising the extent and variety of aneuploidy and, where possible, determining the origin of the abnormalities detected. Both the frequency of aneuploidy and the incidence of mosaicism were significantly lower in the 52 embryos generated by 20 patients that had successfully undergone the first cellular differentiation, producing trophectoderm (TE) and inner cell mass (ICM). Valuable tools for the detailed chromosomal analysis of blastocysts, used in both research and clinical contexts, were comparative genomic hybridization (CGH) and array CGH (aCGH). However, validation of these methods, especially aCGH, was required in order to verify accuracy. A low error rate and a low misdiagnosis risk were demonstrated. The morphology of 1397 embryos at the cleavage and blastocyst stages from 229 patients was evaluated in relation to their chromosomal complement. The results obtained during this part of the project showed that, in general, there is little correlation between cleavage stage morphology and chromosome status. A weak link between morphology and aneuploidy, however, was found for embryos at the blastocyst stage. Chromosomally normal female embryos had a tendency to grow faster than male embryos at the cleavage stage and therefore tended to achieve superior morphological scores, whereas the trend was reversed at the blastocyst stage. Abnormal embryos carrying types of aneuploidy compatible with formation of a clinically recognised pregnancy had morphologies indistinguishable from those of euploid embryos. This study also aimed to utilise aCGH for the preimplantation genetic diagnosis (PGD) of imbal-ances due to structural chromosome rearrangements (e.g. translocations) in 39 carriers, a total of 139 embryos were assessed. The data obtained revealed that carriers of Robertsonian translocations are at increased risk of aneuploidy affecting additional chromosomes not involved the translocation, a phenomenon known as an interchromosomal effect (ICE). Finally, the clinical outcomes of 300 patients undergoing preimplantation genetic screening (PGS) using aCGH, for various different indications, were evaluated at both the cleavage (795 embryos) and blastocyst stages (1097 embryos). The pregnancy rate following cleavage stage biopsy was significantly lower than following blastocyst stage biopsy. The miscarriage rate was significantly reduced following PGS for patients with recurrent miscarriages. This work provided promising data supporting the clinical use of comprehensive chromosome analysis for the screening or diagnosis of preimplantation embryos and also yielded scientifically useful information concerning the frequency and nature of aneuploidy at the final stage of development before implantation.

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Li, Fang. "An analysis of 25,000 cases from a hospital in Guangdong birth defect monitoring network during 2000 to 2005." View the Table of Contents & Abstract, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38478742.

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Books on the topic "Human abnormalities"

1

Endre, Czeizel. Multiple congenital abnormalities. Budapest: Akadémiai Kiadó, 1988.

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2

Thomas, Lejeune, and Delvaux Pascal, eds. Human spermatozoa: Maturation, capacitation, and abnormalities. Hauppauge, N.Y: Nova Science Publishers, 2009.

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Lejeune, Thomas. Human spermatozoa: Maturation, capacitation and abnormalities. New York: Nova Biomedical Books, 2010.

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4

1952-, Kirkcaldy Bruce D., ed. Normalities and abnormalities in human movement. Basel: Karger, 1989.

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5

Jones, Kenneth Lyons. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders, 2006.

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Jones, Kenneth Lyons. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia, PA: Elsevier Saunders, 2005.

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Jones, Kenneth Lyons. Smith's recognizable patterns of human malformation. 5th ed. Philadelphia: Saunders, 1997.

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Jones, Kenneth Lyons. Smith's recognizable patterns of human malformation. 5th ed. Philadelphia: Saunders, 1997.

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1926-1981, Smith David W., ed. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders, 2006.

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1940-, Stevenson Roger E., Hall Judith G, and Goodman Richard M. 1932-, eds. Human malformations and related anomalies. New York: Oxford University Press, 1993.

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Book chapters on the topic "Human abnormalities"

1

Therman, Eeva. "Meiotic Abnormalities." In Human Chromosomes, 149–59. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8_16.

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Therman, Eeva, and Millard Susman. "Meiotic Abnormalities." In Human Chromosomes, 190–202. New York, NY: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4684-0529-3_19.

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Dubousset, Jean. "Cervical Abnormalities in Osteochondrodysplasia." In Human Achondroplasia, 215–17. Boston, MA: Springer US, 1988. http://dx.doi.org/10.1007/978-1-4684-8712-1_31.

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Therman, Eeva. "Numerical Sex Chromosome Abnormalities." In Human Chromosomes, 176–81. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8_19.

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Kalousek, Dagmar K., Naomi Fitch, and Barbara A. Paradice. "Placental Abnormalities." In Pathology of the Human Embryo and Previable Fetus, 203–13. New York, NY: Springer New York, 1990. http://dx.doi.org/10.1007/978-1-4757-2111-9_10.

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Miller, Orlando J., and Eeva Therman. "Meiotic Abnormalities: Abnormal Numbers of Chromosomes." In Human Chromosomes, 157–74. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_11.

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Feuer, George, and Felix A. de la Iglesia. "Abnormalities of Cellular Organization." In Molecular Biochemistry of Human Disease, 51–145. Boca Raton: CRC Press, 2023. http://dx.doi.org/10.1201/9780429286599-3.

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Lechi, A., C. Lechi, C. Lauciello, P. Guzzo, E. Arosio, P. Minuz, and M. Zatti. "Platelet Abnormalities in Human Hypertension." In Cellular Aspects of Hypertension, 227–36. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-662-00983-3_23.

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Martin, Renée H. "Chromosome Abnormalities in Human Sperm." In Advances in Experimental Medicine and Biology, 181–88. Boston, MA: Springer US, 2003. http://dx.doi.org/10.1007/978-1-4419-9190-4_15.

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Martin, Renee H. "Chromosomal Abnormalities in Human Sperm." In Aneuploidy, 91–102. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2127-9_6.

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Conference papers on the topic "Human abnormalities"

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Ganesan, Singaravelu, S. Madhuri, Prakasa R. Aruna, S. Suchitra, and T. G. Srinivasan. "Native fluorescence characterization of human liver abnormalities." In BiOS '99 International Biomedical Optics Symposium, edited by Alexander V. Priezzhev and Toshimitsu Asakura. SPIE, 1999. http://dx.doi.org/10.1117/12.348380.

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Petrovic, N., I. Tomasic, M. Linden, and P. O. Risman. "Detection of Human Bodypart Abnormalities by Microwaves – A New Approach." In 2019 42nd International Convention on Information and Communication Technology, Electronics and Microelectronics (MIPRO). IEEE, 2019. http://dx.doi.org/10.23919/mipro.2019.8757093.

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Kong, Kyoungchul, Joonbum Bae, and Masayoshi Tomizuka. "Detection of abnormalities in a human gait using smart shoes." In The 15th International Symposium on: Smart Structures and Materials & Nondestructive Evaluation and Health Monitoring, edited by Masayoshi Tomizuka. SPIE, 2008. http://dx.doi.org/10.1117/12.776003.

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House, Ron, Aaron Thompson, Tammy Eger, Kristine Krajnak, and Depeng Jiang. "Vascular Symptoms and Digital Plethysmography Abnormalities in the Feet of Workers With HAVS." In American Conference on Human Vibration 2010. Iowa City, IA: University of Iowa, 2010. http://dx.doi.org/10.17077/achv2010.1007.

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Kyoungchul Kong and Masayoshi Tomizuka. "Estimation of abnormalities in a human gait using sensor-embedded shoes." In 2008 IEEE/ASME International Conference on Advanced Intelligent Mechatronics (AIM). IEEE, 2008. http://dx.doi.org/10.1109/aim.2008.4601855.

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Shachina, M. Yu, A. S. Kharlamova, I. V. Barinova, A. E. Andreeva, A. E. Proshchina, and S. V. Saveliev. "Integrated сlinicopathologic diagnostics of the genetically determined human fetal brain abnormalities." In ЛУЧЕВАЯ ДИАГНОСТИКА ДЛЯ ПАТОЛОГИЧЕСКОЙ АНАТОМИИ И СУДЕБНО-МЕДИЦИНСКОЙ ЭКСПЕРТИЗЫ: ОТ ПРИЖИЗНЕННОЙ К ПОСМЕРТНОЙ. Москва: Межрегиональная общественная организация «Межрегиональное Танаторадиологическое Общество», 2022. http://dx.doi.org/10.54182/9785988117094_2022_46.

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Matsumoto, Shogo, Naoya Wakabayashi, Hiromitsu Shimakawa, and Humiko Harada. "Detection of abnormalities in imaged lung sounds based on deep learning." In 10th International Conference on Human Interaction and Emerging Technologies (IHIET 2023). AHFE International, 2023. http://dx.doi.org/10.54941/ahfe1004084.

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Despite the increase in respiratory diseases, the number of respiratory specialists is decreasing. The shortage of respiratory specialists has made the COVID-19 pandemic more serious. The pandemic has revealed the difficulty of controlling transmission, diagnosing, monitoring disease status, and responding to symptoms of infectious respiratory diseases. The global outbreak of the new virus infections has reminded us of the fragility of the conventional healthcare system.The most effective examination in the examination of respiratory disease is auscultation. However, features of abnormal sounds the disease brings are too obscure for doctors who are not specialists in respiratory to distinguish abnormal sounds from normal ones. Furthermore, due to aging, we would suffer from difficulty in hearing high-pitched sounds, which obliges even specialists often make mistakes in diagnosis. Diagnosis by auscultation depends on subjective judgment and the skill of the specialist. Today, when specialists are in short supply, information technology is expected to support even non-specialists to be able to diagnose respiratory diseases with high accuracy based on objective criteria. Utilizing the technologies, we should prepare for new pandemics.Specialists diagnose respiratory diseases by listening for peculiar sounds from the auscultatory sounds of patients who are suffering from lung disease. The study proposed in the paper transforms lung sounds collected by auscultation into a spectral image using the short-time Fourier transform. If auscultatory sounds contain disease-specific sounds, specific features should also appear in the spectral image of lung sounds. Deep learning techniques for analyzing images have made remarkable progress.Images can provide objective judgment criteria even to non-specialists. Analysis of images allows both specialists and non-specialists to diagnose objectively, unaffected by hearing loss due to aging. Doctors have accountability for patients on diseases. Images have comprehensive explanatory power for patients.Only a short-time Fourier transform of the spectral image of auscultatory sounds does not sufficiently highlight features specific to respiratory disease. The proposed method converts auscultatory sounds from the lung into a spectral image that emphasizes the frequency region of the sound recognizable to humans. The study refers to it as a mel-spectrogram, which facilitates finding disease features. The proposed method detects disease-specific features appearing in mel-spectrograms with Yolo, an object detection technique based on deep learning. The proposed method has discriminated auscultatory sounds obtained from actual patients with an accuracy of 0.7 in the F1-Score.Deep learning analysis of images provides evaluation criteria that are objective and independent of the skill of doctors. This study will enable non-specialists in respiratory medicine to examine whether persons are suffering from respiratory diseases, which would eliminate the shortage of specialists. This is diagnostic support for nonspecialists to address the explosion of patients due to respiratory infection outbreaks in the pandemic. It contributes to preventing the collapse of health care.

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Yu, Bruce X. B., Yan Liu, and Keith C. C. Chan. "Skeleton-Based Detection of Abnormalities in Human Actions Using Graph Convolutional Networks." In 2020 Second International Conference on Transdisciplinary AI (TransAI). IEEE, 2020. http://dx.doi.org/10.1109/transai49837.2020.00030.

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Hida, Kyoko, Tomoshige Akino, Yasuhiro Hida, Kunihiko Tsuchiya, Deborah Freedman, Chikara Muraki, Noritaka Ohga, et al. "Abstract 1308: Cytogenetic abnormalities of tumor endothelial cells in human malignant tumors." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1308.

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Anu, A., R. Loganathan, and M. Umadevi. "An automated detection and morphological classification of numerical abnormalities in human chromosomes." In IET Chennai Fourth International Conference on Sustainable Energy and Intelligent Systems (SEISCON 2013). Institution of Engineering and Technology, 2013. http://dx.doi.org/10.1049/ic.2013.0337.

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Reports on the topic "Human abnormalities"

1

Briggs, Richard W. Abnormalities in Human Brain Creatine Metabolism in Gulf War Illness Probed with MRS. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada589864.

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Briggs, Richard W. Abnormalities in Human Brain Creatine Metabolism in Gulf War Illness Probed with MRS. Fort Belvoir, VA: Defense Technical Information Center, December 2014. http://dx.doi.org/10.21236/ada622274.

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