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)

Serum insulin, blood sugar, and growth hormone levels were measured in response to a 50g oral glucose tolerance test in 10 patients with proven dystrophia myotonica. Three patients belonged to one family; seven patients had no known family history of the disease. One patient, a chronic invalid aged 56 years, produced a mild diabetic glucose tolerance curve and a delayed prolonged rise in serum insulin. Six of the group, including the three affected members from one family, exhibited normal glucose tolerance and fasting serum insulin values, but a markedly exaggerated rise in peripheral insulin levels maximal at 30 and 60 min. This abnormality showed no correlation with age of onset of the disease nor with severity of the muscle weakness. Growth hormone levels were normal in all of the patients studied. It is concluded that an excessive rise in circulating immunoreactive insulin in response to glucose is a common abnormality in dystrophia myotonica and reflects genetic heterogeneity in this condition. Futhermore, if the index patient in a family demostrates this abnormality, it is suggested that the 30- or 60-min blood insulin level during a glucose tolerance test is a useful methold of intra-family screen-ing for asymptomatic heterozygotes at an early stage before the development of physical defects.
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PMID:Carbohydrate metabolism in dystrophia myotonica. 114 79

Critical illness, surgery and hypocaloric feeding are accompanied by a high rate of total body nitrogen loss. Loss of body protein, occurring despite adequate nutrition, results in increased incidence of infection, poor wound healing, skeletal muscle weakness and increased mortality. Growth hormone (GH) administration together with nutritional support attenuates protein catabolism. This review focuses on normal GH physiology and the administration of GH in adult catabolic patients.
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PMID:Growth hormone: secretion and administration in catabolic adult patients, with emphasis on the critically ill patient. 149 2

Growth hormone is a powerful anabolic hormone that affects all body systems and plays an important role in muscle growth. It is released from the anterior pituitary in response to a variety of stimuli including exercise, sleep, stress, and the administration of a variety of drugs and amino acids. Serum levels are variable and are dependent on such factors as age, sex, body composition and level of fitness. Animal experiments have shown that growth hormone can partially reverse surgically induced muscle atrophy and weakness. Growth hormone administration to normal animals leads to muscle hypertrophy, but this muscular growth is not accompanied by increased strength. Growth hormone excess leads to acromegaly, a disease with significant morbidity, including a myopathy in which muscles appear larger but are functionally weaker. Although there is no scientific evidence documenting an improvement in athletic performance following growth hormone supplementation, it is reported that this practice is becoming more widespread among athletes wishing to avoid detection with current doping control measures. There are anecdotal reports that athletes are injecting cadaveric or biosynthetic forms of growth hormone, both of which are associated with potentially serious complications. In addition, some athletes are ingesting drugs and amino acids in the belief that their endogenous growth hormone secretion will be increased. There have been no scientific studies on the effects of growth hormone supplementation, and the anecdotal reports have been equivocal, with some individuals reporting spectacular results while others report no change. Despite the lack of valid evidence for its efficacy and its potentially serious side effects, it has been predicted that growth hormone use may increase. Growth hormone use and abuse has the potential to dramatically change the future conduct of athletics and may prove to be a threat to the concept of fair competition.
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PMID:Growth hormone and athletes. 329 11

1. Growth hormone-deficient hypopituitary adults often complain of weakness and fatigue. The cause of the fatigue is unknown but could be an increased proportion of fast, fatiguable, type 2 fibres in the muscle. The aim of this study was to examine the contractile properties of the quadriceps muscle in a group of these patients compared with healthy controls. Changes in these properties were also examined in a small subset of the patients following growth hormone replacement. 2. Isometric strength, half-relaxation time from a twitch (t1/2) and the force-frequency relationship were measured using electrically evoked contractions in 14 growth hormone-deficient patients and 14 age- and sex-matched controls. Six patients were restudied following 6-24 month's replacement therapy with growth hormone (daily dose 0.04 +/- 0.01 i.u./kg). 3. The growth hormone-deficient patients had a significantly lower t1/2 than the controls (46.1 +/- 6.1 ms versus 56.1 +/- 10.5 ms respectively; P = 0.0072; mean +/- SD). The 10/100% ratio was also significantly lower in growth-hormone-deficient patients (38.6 +/- 9.9% versus 52.3 +/- 8.0%; P = 0.0005), as was muscle strength (349 +/- 99 N versus 493 +/- 215 N; P = 0.036). Following growth hormone replacement, muscle strength increased significantly (P < 0.05). The 10/100% ratio also increased towards control values, but this change was not significant. 4. These results demonstrate that the relaxation times of the quadriceps are significantly shorter and that the force-frequency relationship shifted to the right in growth hormone-deficient patients, which is consistent with a greater proportion of type 2 fibres within the muscles.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Contractile properties of the quadriceps muscle in growth hormone-deficient hypopituitary adults. 770 3

Growth hormone (GH) has been in clinical use for almost 40 years to promote linear growth in growth hormone deficient children. Treatment has usually been stopped after the epiphyseal plates have fused or when the person reaches a proper height. Previously, GH replacement therapy in adults was not deemed clinically indicated. GH-deficiency in adults is now accepted as a clinical entity, manifested by cardiovascular dysfunction, dyslipidemia, reduced capacity for exercise and muscular weakness, altered body composition, increased prevalence of osteoporosis, and impaired psychological well-being. The treatment of adults used to be unrealistic, because of the limited supply of human pituitary-derived GH. Moreover, the risk of transferring Creutzfeldt-Jakobs disease led to a stop in the therapeutic use of pituitary GH preparations. The availability of recombinant human prion-free GH has made replacement therapy possible in GH-deficient adults. In this review, the GH deficiency syndrome in adults is described, together with the results of recent clinical studies of GH replacement treatment in adults.
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PMID:[Growth hormone deficiency in adults]. 901 53

Is well being in the elderly be improved by hormone replacement therapy which compensate deficits accounting for generalized weakness, poor endurance, loss of muscle strength, impaired mobility and balance and decreased cognitive functions? Hormone replacement therapy of menopause has favorable effects on bone loss and decreased cognitive functions but also on several unpleasant symptoms--vasomotor instability, skin atrophy, mucosal dryness, anxiety and fatigue--but at the prize of increased incidence of cancer and cardiovascular morbidity. Decreased testosterone levels in elderly men are associated with increased fatigability, decreased muscle strength and bone mass and increased risks of accelerated atheromatosis. Testosterone substitution seems to be helpful but with side effects, particularly development of prostate cancer. Aging also affects adrenal function. The consequences of decreased DHEA production are still matter of debate. DHEA administration in elderly women seems to be associated with favorable effects on physical and psychological well being. Somatopause is characterized by a progressive decrease of growth hormone production starting as soon as the third decade. Growth hormone therapy has favorable effects on lean body mass, skin atrophy as well on body fat reduction. However, numerous side effects and the theoretical increased risk of cancer limit the use of growth hormone therapy in the elderly.
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PMID:[Hormone therapy of ageing: myths and realities]. 1551 74

A 24-year-old man was referred to our clinic in August 2003 with complaints of weakness, dizziness, and bilateral knee pain of 3 years' duration. Bilateral digital clubbing had been found on routine physical examination during his military service 4 years earlier. There were no cardiorespiratory or abdominal symptoms. There was no compromise in the activities of everyday life. The patient was not a chronic smoker. In the family history of the patient, his brother had been diagnosed with pachydermoperiostosis in another center 2 years earlier, but did not return to the hospital for a follow-up investigation of myelofibrosis. On physical examination, the patient showed marked drumstick clubbing of the hands (Fig. 1), and a pale general appearance. The causes of digital clubbing are shown in Table 1 (Fawcett RS, Linford S, Stulberg DL. Nail abnormalities: clues to systemic disease. Am Fam Physician 2004; 69: 1417-1424). Deep nasolabial folds were seen on the face. Skin hypertrophy, cutis verticis gyrata, and seborrhea on the face were also observed. The patient also complained of hyperhidrosis. Examination of the cardiovascular system was normal. There was bilateral swelling of the ankle and knee (Fig. 2). Hepatosplenomegaly was found on abdominal examination. Investigations showed hypochromic microcytic anemia [hemoglobin, 8.58 g/dL (normal, 12.2-18.1 g/dL); hematocrit, 28.1% (normal, 37.7-53.7%); white blood cell count, 3430/mm(3) (normal, 4600-10,200/mm(3)); neutrophils, 2470/mm(3) (normal, 2000-6900/mm(3)); lymphocytes, 820/mm(3) (normal, 600-3400/mm(3)); platelets, 162,000/mm(3) (normal, 142,000-424,000 mm(3)); mean corpuscular volume, 73.7 fL (normal, 80-97 fL)]. Anisocytosis, poikilocytosis, microcytosis, and hypochromia were observed on peripheral blood examination, and the erythrocyte sedimentation rate was 37 mm/h. The serum C-reactive protein level was 50.1 mg/L (normal, 0-5 mg/L). Biochemical parameters, including serum calcium, phosphate, alkaline phosphates and liver function tests, were found to be within the normal range. The causes of secondary hypertrophic osteoarthropathy associated with pulmonary, rheumatologic, endocrine, cardiac, and gastroenterologic disorders were excluded. Growth hormone level and thyroid function tests were normal. Antinuclear antibody, TORCH [Toxoplasma immunoglobulin M (IgM), rubella IgM, cytomegalovirus IgM, herpes simplex IgM] panel, and markers of hepatitis were negative. Serum Igs and rheumatoid factor were found to be within the normal range. There was subperiosteal new bone formation on bilateral knee X-ray (Fig. 3). Radiography of the chest, pulmonary function tests, arterial blood gas, and echocardiography were normal. Abdominal ultrasonography revealed hepatosplenomegaly. Amyloid deposition was not determined in rectal biopsy. Reticulin-type myelofibrosis was found on bone marrow biopsy (Figs 4 and 5). In the cytogenetic study, monosomy 22 was detected in four of 20 metaphase plates.
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PMID:An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22. 1965 69

Growth hormone (GH) use has been speculated to improve physical capacity in subjects without GH deficiency (GHD) through stimulation of collagen synthesis in the tendon and skeletal muscle, which leads to better exercise training and increased muscle strength. In this context, the use of GH in healthy elderly should be an option for increasing muscle strength. Our aim was to evaluate the effect of GH therapy on muscle strength in healthy men over 50 years old. Fourteen healthy men aged 50-70 years were evaluated at baseline for body composition and muscle strength (evaluated by leg press and bench press exercises, which focus primarily on quadriceps-lower body part and pectoralis major-upper body part-muscles, resp.). Subjects were randomised into 2 groups: GH therapy (7 subjects) and placebo (7 subjects) and reevaluated after 6 months of therapy. Thirteen subjects completed the study (6 subjects in the placebo group and 7 subjects in the GH group). Subjects of both groups were not different at baseline. After 6 months of therapy, muscle strength in the bench press responsive muscles did not increase in both groups and showed a statistically significant increase in the leg press responsive muscles in the GH group. Our study demonstrated an increase in muscle strength in the lower body part after GH therapy in healthy men. This finding must be considered and tested in frail older populations, whose physical incapacity is primarily caused by proximal muscle weakness. The trial was registered with NCT01853566.
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PMID:Effects of Growth Hormone Administration on Muscle Strength in Men over 50 Years Old. 2438 63

Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling.
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PMID:Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. 2869 22

Growth hormone (GH) has been shown to improve implantation and live birth rates in women of >40 years of age treated by in vitro fertilization (IVF). This effect was initially attributed to a GH effect on oocyte quality, but later studies showed that GH can also improve uterine receptivity for embryo implantation. As to younger women with previous failures of embryo implantation after IVF, data reported in the literature are ambiguous. This retrospective study focused on this latter category of women, comparing the numbers and morphological appearance of oocytes recovered from women with two previous IVF failures, aged between 30 and 39 years and treated with GH, with a comparable group of women without GH treatment. These results were complemented with the analysis of morphological markers of zygote and embryo quality and IVF clinical outcomes in both groups. The oocytes, zygotes and embryos from women treated with GH showed better morphological scores, and their uterine transfer resulted in more implantations, pregnancies and live births, as compared with the untreated group. It is concluded that the improvement of IVF outcomes in women with previous repeated IVF failures by exogenous GH administration is, at least partly, related to an increase in oocyte developmental potential. The statistically evident improvement of oocyte and embryo quality is the main finding of this study. Its weakness is its retrospective nature.
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PMID:The Effect of GH Administration on Oocyte and Zygote Quality in Young Women With Repeated Implantation Failure After IVF. 3311 71


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