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Journal articles on the topic 'Spiral Sachs'

Author: Grafiati

Published: 28 May 2022

Last updated: 31 July 2025

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1

Bibi, Farah, Asmat Ullah, Thomas Bourinaris, et al. "Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco." Klinische Pädiatrie 233, no. 05 (2021): 226–30. http://dx.doi.org/10.1055/a-1371-1561.

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Abstract Background Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminidase A (HEXA) isoenzyme activity. This study aimed to identify causative gene variants in 3 unrelated consanguineous families presented with TSD from Pakistan and Morocco. Methods Detailed clinical investigations were carried out on probands in 3 unrelated consanguineous families of Pakistani and Moroccan origin. Targeted gene sequ

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2

Trehan, Aditi, Jacqueline Brady, Colleen Wahl, Cornelius Boerkoel, Camilo Toro, and Cynthia Tifft. "Late-onset Tay–Sachs disease: A genocopy of spinal muscular atrophy?" Molecular Genetics and Metabolism 108, no. 2 (2013): S92—S93. http://dx.doi.org/10.1016/j.ymgme.2012.11.252.

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Abe, T., K. Ogawa, H. Fuziwara, K. Urayama, and K. Nagashima. "Spinal ganglia and peripheral nerves from a patient with Tay-Sachs disease." Acta Neuropathologica 66, no. 3 (1985): 239–44. http://dx.doi.org/10.1007/bf00688589.

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Faidi, Maria. "Rolling and Trembling of the Abdomen: Movement as a Subaltern Subject in Colonial Egypt." Congress on Research in Dance Conference Proceedings 2016 (2016): 141–47. http://dx.doi.org/10.1017/cor.2016.20.

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Accordingly to Shay and Sellers-Young (2005) “the term “belly dance” was adopted by natives and non-natives to denote all solo dance forms from Morocco to Uzbekistan that engage the hips, torso, arms and hands in undulations, shimmies, circles and spirals.” Dance historian Curt Sachs depicted the dance as “the swinging of the rectus abdominis” (Sachs 1963). This movement has been performed by many oriental dancers in the past century and has become part of the routine of oriental dancers worldwide. This movement has even named the dance “belly dance,” and become one of the most representative

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Maier, Smaranda, Zoltan Bajko, Anca Moţăţăianu, Adina Stoian, Bianca Şchiopu, and Rodica Bălaşa. "Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report." Acta Medica Marisiensis 63, no. 4 (2017): 199–203. http://dx.doi.org/10.1515/amma-2017-0034.

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AbstractTay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidas

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Liao, Shiyao, Erik Popp, Petra Hüttlin, et al. "Cadaveric study of movement in the unstable upper cervical spine during emergency management: tracheal intubation and cervical spine immobilisation—a study protocol for a prospective randomised crossover trial." BMJ Open 7, no. 8 (2017): e015307. http://dx.doi.org/10.1136/bmjopen-2016-015307.

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IntroductionEmergency management of upper cervical spine injuries often requires cervical spine immobilisation and some critical patients also require airway management. The movement of cervical spine created by tracheal intubation and cervical spine immobilisation can potentially exacerbate cervical spinal cord injury. However, the evidence that previous studies have provided remains unclear, due to lack of a direct measurement technique for dural sac's space during dynamic processes. Our study will use myelography method and a wireless human motion tracker to characterise and compare the cha

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Н.В., Кадырова,, Иванов, Е.А., Шмунк, И.В., Побединская, А.И., and Пушкарев, В.П. "Molecular genetic diagnostics of Tay-Sachs disease with late clinical manifestation." Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no. 9 (September 30, 2022): 61–64. http://dx.doi.org/10.25557/2073-7998.2022.09.61-64.

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В исследовании представлен редкий клинический случай болезни Тея-Сакса (БТС) с поздней манифестацией у 34-летней женщины смешанного этнического происхождения (русского, украинского, мордовского и удмуртского) с клиникой спинальной амиотрофии и спиноцеребеллярной атаксии. Было проведено таргетное секвенирование следующего поколения кодирующих регионов 300 генов, клинически значимых для развития наследственных нервно-мышечных заболеваний, включая ген HEXA. Были идентифицированы 2 патогенных варианта в гене HEXA - NM_000520.6(HEXA): c.2T>C (p.Met1Thr) и c.805G>A (p.Gly269Ser). Присутствие д

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Hansel, Anna, Johannes Dorst, Angela Rosenbohm, Annemarie Hübers, and Albert Ludolph. "ALS Mimics." Neurology International Open 02, no. 01 (2018): E60—E71. http://dx.doi.org/10.1055/s-0043-119960.

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AbstractAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Most patients die within 2–5 years of symptom onset due to the lack of effective therapy options. A diagnostic delay is encountered quite often, since disease progression as well as site and speed of onset may vary significantly. Some diseases can mimic features of ALS, especially in early stages. It is very important to differentiate those mimics from ALS as potentially treatable conditions might be missed otherwise. ALS typically affects the upper as well as the lower motor neuron, which implies that diseases s

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9

Yu, Chung-huang, Yu-Cheng Hung, Yang-Hua Lin, et al. "A 3D mathematical model to predict spinal joint and hip joint force for trans-tibial amputees with different SACH foot pylon adjustments." Gait & Posture 40, no. 4 (2014): 545–48. http://dx.doi.org/10.1016/j.gaitpost.2014.06.013.

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10

CSCI, _. "CSCI Young Investigators Forum Abstracts." Clinical & Investigative Medicine 32, no. 4 (2009): 1. http://dx.doi.org/10.25011/cim.v32i4.6623.

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ASSESSMENT OF PARALLEL SIGNALING PATHWAYS IN UTERINE MYOCYTES STIMULATED WITH VARIOUS SMOOTH MUSCLE AGONISTS H.N. Aguilar, B.F. Mitchell 1 TRACTOGRAPHY: A NOVEL TECHNIQUE TO IMAGE FIBER TRACTS OF THE SPINAL CORD Fahad Alkherayf, Eve Tsai, Arturo Cardenas-Blanco, Alain Berthiaume, Brien Benoit, John Sinclair 1 MODULATION OF OSTEOCLASTOGENESIS IN INFLAMMATORY JOINT DISEASES H. Allard-Chamard, M. Durant, A.J. de Brum-Fernandes, G. Boire, S.V. Komarova, S.J. Dixon, S.M. Sims, R. Harison, M.F. Manolson 2 “THE RIGHT THING TO DO? A CRITICAL ANALYSIS OF PUBLIC HEALTH ETHICS, RIGHTS DISCOURSE, AND THE

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Timchy, K. I., V. T. Smetanin, and O. I. Sidashenko. "PROBLEMS SOLUTION OF SPECIAL IDENTIFICATION OF EISENIA CULTURAL POPULATIONS." Animal Breeding and Genetics 54 (November 29, 2017): 156–61. http://dx.doi.org/10.31073/abg.54.20.

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Introduction. Intensification of various aspects of modern agricultural production, based on the use of a large number of mineral fertilizers and chemical means of plant and animal protection, actualizes the development and mastering of natural-like methods for restoring the quality of soils and bottom deposits of inland water bodies. The goal is their successful use in cultivating cultivated plants and conducting remediation measures. One such approach is vermiculturing – breeding of earthworms of the family Lumbricidae, for biotransformation of depleted soils and organic wastes in order to o

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12

Ribeiro Coutinho, Dolores Pereira, Adriano Marinheiro Pompeu, and Marcos Fermau De Oliveira Junior. "Ignacy Sachs’s concepts and the contribution to studies in Local Development: a small reflection." Interações (Campo Grande), June 3, 2016. http://dx.doi.org/10.20435/1984042x2016216.

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Development studies of the deal with the pillars of sustainability and sustainable developmentis broader in your vision format field. The aim of this scientific paper is to contextualize intellectual and professional trajectory of Ignacy Sachs, to understand how was the construction of concepts that include economic, social and environmental fundamental aspects to studies in Local Development. The bibliographical research used on the spiral of knowledge is to show how it is consolidated ideas starting from local studies.

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13

Bhende, Bhawana B. "Article on Tay-Sachs Disease." International Journal of Nursing Education and Research, December 1, 2021, 475–78. http://dx.doi.org/10.52711/2454-2660.2021.00110.

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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful qua

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14

Okpala, Peterchris, and Sandra Okpala. "Effectiveness of Enzyme Replacement and Enhancement Therapies on the Management of Tay-Sachs." Genetics & Molecular Medicine 3, no. 1 (2021). http://dx.doi.org/10.33425/2689-1077.1009.

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Tay-Sachs is a hereditary syndrome that damages the spinal cord and brain nerve cells. This rare type of disease is mainly manifested in infants at the ages of three to six months. Affected infants lose all their motor skills, such as sitting and crawling. As the disease evolves, kids infected will experience seizures, blindness, deafness, and eventually paralysis. Solovyeva et al., 2018). Currently, there is no treatment for TSD, and different therapies are joined to improve symptoms in patients with the late-onset form. Infant TSD patients do not survive beyond five years. These therapies ca

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15

Ekenstedt, Kari J., Katie M. Minor, G. Diane Shelton, et al. "A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration." Human Genetics, September 27, 2023. http://dx.doi.org/10.1007/s00439-023-02599-1.

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AbstractARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A recently recognized disorder in Great Pyrenees dogs is similarly characterized by widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years. A multi-generation pedigree suggested an autosomal recessive mode of inheritan

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16

Sheth, Jayesh, Aadhira Nair, Frenny Sheth, et al. "Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre." Orphanet Journal of Rare Diseases 19, no. 1 (2024). http://dx.doi.org/10.1186/s13023-024-03300-z.

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Abstract Background Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several thousand are endogamous, is likely to have a high burden of rare diseases. The present study provides a retrospective overview of a cohort of patients with rare genetic diseases id

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