Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Female pelvic organ prolapse refers to the descent of the pelvic organs towards or through the vagina. The similarities between vaginal prolapse and herniae in their aetiology and treatment make this an interesting area for all those operating in the pelvis. It is a common condition with prevalence estimates varying from 2% for symptomatic prolapse to 50% for asymptomatic prolapse [Samuelsson EC, Arne Victor FT, Tibblin G, Svardsudd KF. Signs of genital prolapse in a Swedish population 20 to 59 years of age and possible related factors. Am J Obstet Gynecol 1999;180:299-305]. Approximately 50% of parous women will have some degree and only 10-20% of these seek medical help [Beck RP. Pelvic relaxation prolapse. In: Kase NG, Weingold AB, editors. Principles and practice of clinical gynecology. New York: John Wiley; 1983. p. 677-85]. The lifetime risk for surgery for prolapse has been estimated to be around 11.1%, and 30% will undergo re-operation for recurrent prolapse [Olsen AL, Smith VJ, Bergstrom JO, Colling JC, Clark AL. Epidemiology of surgically managed pelvic organ prolapsed and urinary incontinence. Obstet Gynecol 1997;89:501-6]. The aetiology of prolapse is multifactorial. Advancing age, parity and collagen weakness are all quoted as significant predisposing factors [Olsen AL, Smith VJ, Bergstrom JO, Colling JC, Clark AL. Epidemiology of surgically managed pelvic organ prolapsed and urinary incontinence. Obstet Gynecol 1997;89:501-6; Maclennan AH, Taylor AW, Wilson, Wilson D. The prevalence of pelvic floor disorders and their relationship to gender, age, parity and mode of delivery. Br J Obstet Gynaecol 2000;107:1460-70]. Pathophysiological mechanisms that have been proposed include pelvic floor denervation, direct trauma to the pelvic floor musculature, abnormal synthesis and degradation of collagen and defects in endopelvic fascia [Al-Rawi ZS, Al-Rawi ZT. Joint hypermobility in women with genital prolapse. Lancet 1982;I:439-41; Gilpin SA, Gosling JA. Smith ARB, Warrell DW. The pathogenesis of genitourinary prolapse and stress incontinence in women. A histological and histochemical study. Br J Obstet Gynaecol 1989;96:15-23; Smith ARB, Hosker GL, Warrell DW. The role of partial denervation of the pelvic floor in the aetiology of genitourinary prolapse and stress incontinence of urine. A neurophysiological study. Br J Obstet Gynaecol 1989;96:24-8; Allen RE, Hosker GL, Smith ARB, Warrell DW. Pelvic floor damage and childbirth: a neurophysiological study. Br J Obstet Gynaecol 1990;97:770-9]. The procedure of choice for reconstructive surgery to the vagina should be tailored to the individual patient and be of low morbidity and mortality, but at the same time with long-term durability.
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PMID:Surgical repair of vaginal prolapse: a gynaecological hernia. 1746 58

Joint hypermobility syndrome (JHS), or Ehlers-Danlos syndrome (EDS) hypermobility type (EDS-HT), is a underdiagnosed heritable connective tissue disorder characterized by generalized joint hypermobility and a wide range of visceral, pelvic, neurologic, and cognitive dysfunctions. Deterioration of quality of life is mainly associated with pain and fatigue. Except for the recognized effectiveness of physiotherapy for some musculoskeletal features, there are no standardized guidelines for the assessment and treatment of pain and fatigue. In this work, a practical classification of pain presentations and factors contributing in generating painful sensations in JHS/EDS-HT is proposed. Pain can be topographically classified in articular limb (acute/subacute and chronic), muscular limb (myofascial and fibromyalgia), neuropathic limb, back/neck, abdominal and pelvic pain, and headache. For selected forms of pain, specific predisposing characteristics are outlined. Fatigue appears as the result of multiple factors, including muscle weakness, respiratory insufficiency, unrefreshing sleep, dysautonomia, intestinal malabsorption, reactive depression/anxiety, and excessive use of analgesics. A set of lifestyle recommendations to instruct patients as well as specific investigations aimed at characterizing pain and fatigue are identified. Available treatment options are discussed in the set of a structured multidisciplinary approach based on reliable outcome tools.
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PMID:Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. 2278 15

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and the gait pattern using 3D Gait Analysis (GA). Eleven individuals with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type (JHS/EDS-HT) were investigated using muscle strength measured with standardised questionnaire measuring fatigue (Fatigue Severity Scale, FSS) and quantitative 3D GA. Our data showed that FSS value well correlated with the peak of vertical component of ground reaction force (r=-0.66, p<0.05). The negative correlation gives evidence that the higher the fatigue is the more reduced force is during gait. Our results showed that the ground reaction force has been applied as a functional evaluation score for detecting pathology in gait of JHS/EDS-HT participants and the found correlation between vertical force and fatigue demonstrated that muscle fatigue may be associated with a loss of proprioceptive acuity in lower limb muscles.
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PMID:Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. 2281 99

Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders.
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PMID:The neuromuscular differential diagnosis of joint hypermobility. 2582 Oct 91