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Pelvic girdle

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https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#1
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28149402/accelerometer-profile-of-motion-of-the-pelvic-girdle-in-breaststroke-swimming
#2
Zbigniew Staniak, Krzysztof Buśko, Michał Górski, Anna Pastuszak
The aim of the study was to develop a method for measurement and analysis of kinematics of the pelvic girdle movement in breaststroke swimming to support training of technical skills. The measurements were performed in five elite breaststroke swimmers. A recording device for triaxial accelerations and triaxial rotational angular velocity was mounted on the dorsal part of the pelvic girdle of the athlete. The task of the athlete was to swim one length of the 50 m swimming pool with the intensity similar to competition...
September 1, 2016: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28143502/transcultural-adaptation-and-psychometric-validation-of-a-spanish-language-version-of-the-pelvic-girdle-questionnaire
#3
Montserrat Rejano-Campo, Raúl Ferrer-Peña, M Alicia Urraca-Gesto, Tomás Gallego-Izquierdo, Daniel Pecos-Martín, Britt Stuge, Gustavo Plaza-Manzano
BACKGROUND: The Pelvic Girdle Questionnaire is the only instrument designed to assess pain and disability specifically in pregnant or postpartum women with pelvic girdle pain. The objective of this study was the adaptation to the Spanish language and analysis of the psychometric properties of the Pelvic Girdle Questionnaire. METHODS: This is a descriptive cross-sectional study divided into two phases. In the first phase, a translation and adaptation process was performed according to international guidelines...
February 1, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28121995/a-new-ophthalmosaurid-ichthyosauria-from-svalbard-norway-and-evolution-of-the-ichthyopterygian-pelvic-girdle
#4
Lene Liebe Delsett, Aubrey J Roberts, Patrick S Druckenmiller, Jørn H Hurum
In spite of a fossil record spanning over 150 million years, pelvic girdle evolution in Ichthyopterygia is poorly known. Here, we examine pelvic girdle size relationships using quantitative methods and new ophthalmosaurid material from the Slottsmøya Member Lagerstätte of Svalbard, Norway. One of these new specimens, which preserves the most complete ichthyosaur pelvic girdle from the Cretaceous, is described herein as a new taxon, Keilhauia nui gen. et sp. nov. It represents the most complete Berriasian ichthyosaur known and the youngest yet described from the Slottsmøya Member...
2017: PloS One
https://www.readbyqxmd.com/read/28118699/a-biopsychosocial-care-profile-for-pelvic-girdle-pain
#5
Evelien H Verstraete, Stijn Blot
No abstract text is available yet for this article.
January 24, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#6
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28064341/history-of-depression-and-risk-of-hyperemesis-gravidarum-a-population-based-cohort-study
#7
Helena Kames Kjeldgaard, Malin Eberhard-Gran, Jūratė Šaltytė Benth, Hedvig Nordeng, Åse Vigdis Vikanes
Hyperemesis gravidarum (HG) is a pregnancy condition characterised by debilitating nausea and vomiting. HG has been associated with depression during pregnancy but the direction of the association remains unclear. The aim of this study was to assess whether previous depression is associated with HG. This is a population-based pregnancy cohort study using data from The Norwegian Mother and Child Cohort Study. The study reviewed 731 pregnancies with HG and 81,055 pregnancies without. Logistic regression analyses were performed to examine the association between a lifetime history of depression and hyperemesis gravidarum...
January 7, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/28062382/fourteen-years-follow-up-of-massive-pelvic-girdle-osteolysis-caused-by-lymphatic-malformation-gorham-stout-disease
#8
Richard Ballas, Madeline Caduc, Jordan Ovigue, Philippe Elkienbaum, Frédérique Sauvat
No abstract text is available yet for this article.
January 3, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27984691/-iliacus-muscle-injury-caused-by-inadequate-exercise
#9
J Magaña-Reyes, L G Domínguez-Gasca, A García-Luna, L G Domínguez-Carrillo
BACKGROUND: Traumatic iliacus muscle injury is rare; it is usually caused by trauma or intense exercise involving the pelvic girdle; it can produce a hematoma with femoral nerve neuropathy. Spontaneous muscle hematomas occur in patients with coagulation disorders. CLINICAL CASE: A 45-year-old male with 18 days of evolution, with an intense pain in the right buttock, groin and iliac fossa, with an inability for hip flexion and ambulation caused by inadequate exercise (supine double leg lifts)...
May 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/27965887/evaluating-acupuncture-and-standard-care-for-pregnant-women-with-back-pain-the-ease-back-pilot-randomised-controlled-trial-isrctn49955124
#10
Annette Bishop, Reuben Ogollah, Bernadette Bartlam, Panos Barlas, Melanie A Holden, Khaled M Ismail, Sue Jowett, Martyn Lewis, Alison Lloyd, Christine Kettle, Jesse Kigozi, Nadine E Foster
BACKGROUND: Low back pain (LBP) and pelvic girdle pain (PGP) during pregnancy are common and often accepted as a 'normal' part of pregnancy. Many women receive little in the way of treatment, and yet pain interferes with sleep, daily activities and work and leads to increasing requests for induction of labour or elective caesarean section. The aim of this study was to assess the feasibility of a full RCT evaluating the benefit of acupuncture for pregnancy-related back pain. METHODS: This study is a single-centre, three-arm pilot RCT in one large maternity unit and associated antenatal and physiotherapy clinics...
2016: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/27942797/bone-histology-sheds-light-on-the-nature-of-the-dermal-armor-of-the-enigmatic-sauropod-dinosaur-agustinia-ligabuei-bonaparte-1999
#11
Flavio Bellardini, Ignacio A Cerda
Agustinia ligabuei is an Early Cretaceous sauropod dinosaur from the northwest of Patagonia that is currently the topic of debate with respect to its phylogenetic position and atypical dermal armor. The presence of four morphotypes of laminar and transversely elongated putative osteoderms was used to consider Agustinia as an armored sauropod. Regarding the different hypotheses about the identity of the bony structures of Agustinia (e.g., osteoderms, cervical or dorsal ribs, hypertrophied elements), a comparative histological analysis has been carried out...
February 2017: Die Naturwissenschaften
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#12
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27882767/-traumatic-symphyseal-rupture-by-vaginal-delivery-report-of-a-rare-case
#13
J Hofierková
OBJECTIVE: This case report draw attention symphysis pubic dysfunction and injury pelvic girdle by vaginal delivary (in our case compliated by dystokia shoulders), mainly its diagnostic, prediction and treatment. DESIGN: Case report. SETTING: Department of Obstetrics and Gynecology. Hospital Česká Lípa. CASE REPORT: We report a case of a 31 years old woman, who gave birth for the second time with rupture of symphysis after delivery...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27861222/novel-homozygous-missense-mutation-in-capn3-gene-detected-in-a-saudi-arabian-family-with-limb-girdle-muscular-dystrophy-type-2a
#14
Talal M Al-Harbi, Sameeh O Abdulmanaʼ, Walid Dridi
More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle muscles. We sequenced all exonic and intronic regions of the CAPN3 gene and identified c...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27812068/dupatta-long-scarf-related-injuries-in-female-pillion-riders-in-karachi-pakistan
#15
Muhammad Saeed Minhas, Muhammad Muzzammil Sangani, Kashif Mehmood, Anissudin Bhatti, Ayesha Mughal, Ranjeet Kumar
OBJECTIVE: To assess the frequency, type of injuries and reason behind avoidable injuries due to dupatta entrapment in motorcycle wheels among female pillion riders. METHODS: This observational / descriptive study was conducted at the Jinnah Postgraduate Medical Centre, Karachi, from July 2013 to December 2014, and comprised female patients with dupatta-related motorbike injuries. The patients had injuries around head and neck, face, chest, abdomen, etc. SPSS 11 was used for data analysis...
November 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27811760/a-new-subfamily-styracurinae-and-new-genus-styracura-for-himantura%C3%A2-schmardae-werner-1904-and-himantura-pacifica-beebe-tee-van-1941-chondrichthyes-myliobatiformes
#16
Marcelo R De Carvalho, Thiago S Loboda, João Paulo C B Da Silva
A new subfamily (Styracurinae, subfam. nov.) and genus (Styracura, gen. nov.) are erected for Trygon schmardae Werner, 1904 (type species) and Dasyatis pacificus Beebe & Tee-Van, 1941, species placed in Himantura Müller & Henle, 1837 since 1953 but which differ significantly from it and all dasyatid genera in many morphological features. Recent molecular phylogenetic hypotheses based on the entire protein-coding mitochondrial genome have recovered Styracura as the sister group of the Neotropical freshwater stingrays (Potamotrygonidae), agreeing with previous morphological and molecular phylogenies...
October 14, 2016: Zootaxa
https://www.readbyqxmd.com/read/27773569/loss-and-re-emergence-of-legs-in-snakes-by-modular-evolution-of-sonic-hedgehog-and-hoxd-enhancers
#17
Francisca Leal, Martin J Cohn
Limb reduction and loss are hallmarks of snake evolution. Although advanced snakes are completely limbless, basal and intermediate snakes retain pelvic girdles and small rudiments of the femur. Moreover, legs may have re-emerged in extinct snake lineages [1-5], suggesting that the mechanisms of limb development were not completely lost in snakes. Here we report that hindlimb development arrests in python embryos as a result of mutations that abolish essential transcription factor binding sites in the limb-specific enhancer of Sonic hedgehog (SHH)...
October 19, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27721552/isotretinoin-induced-acute-severe-myopathy-involving-pelvic-girdle-muscles-a-case-report
#18
Farah Sameem, Semira
Oral isotretinoin has been in widespread use for more than three decades. It causes numerous side effects; skin and mucous membrane being commonly involved. Musculoskeletal adverse effects are also known to occur, but pelvic girdle myopathy is rarely reported. We report myopathy involving pelvic girdle muscles in a young male who received oral isotretinoin for folliculitis decalvans.
September 2016: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/27671536/a-first-line-diagnostic-assay-for-limb-girdle-muscular-dystrophy-and-other-myopathies
#19
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M Wakil, Nada A Altassan, Brian F Meyer, Saeed Bohlega
BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes...
September 27, 2016: Human Genomics
https://www.readbyqxmd.com/read/27635359/osteology-of-the-late-triassic-aetosaur-scutarx-deltatylus-archosauria-pseudosuchia
#20
William G Parker
Aetosaurians are some of the most common fossils collected from the Upper Triassic Chinle Formation of Arizona, especially at the Petrified Forest National Park (PEFO). Aetosaurians collected from lower levels of the park include Desmatosuchus spurensis, Paratypothorax, Adamanasuchus eisenhardtae, Calyptosuchus wellesi, and Scutarx deltatylus. Four partial skeletons collected from the park between 2002 and 2009 represent the holotype and referred specimens of Scutarx deltatylus. These specimens include much of the carapace, as well as the vertebral column, and shoulder and pelvic girdles, and a new naming convention proposed for osteoderms descriptions better differentiates portions of the carapace and ventral armor...
2016: PeerJ
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