Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prader-Willi syndrome, first described in 1956, is characterized by marked hypotonia, hyperphagia, severe obesity, short stature, hypogonadism, orthopedic problems, breathing-related sleep disorders, mild to moderate mental retardation and behavioral abnormalities. The incidence of this syndrome, an expression of a genetic imprinting error in chromosome 15, is 1:10,000-1:25,000. We describe the medical, emotional and cognitive parameters of 34 patients in our multidisciplinary clinic for Prader-Willi syndrome. Their ages range from 5 months to 40 years and 20 are males. Excessive weight gain started at the age of 6 years, increasing to 170-370% of that predicted by height and age and short stature started after the age of 12. All males have hypogonadism; 6 patients have scoliosis. Breathing-related sleep disorders have occurred in 15. Children above the age of 8 years underwent neuropsychological assessment: half (9/18) have borderline intelligence while a quarter have low-normal intelligence and the remainder mild to moderate mental retardation. Behavioral and social problems are common, and become more prominent during adolescence. ADHD was diagnosed in 10/18.
 ...
PMID:[Prader-Willi syndrome: medical, emotional and cognitive facets]. 1088 49

This review discusses the development of melatonin rhythmicity in humans and the factors that may alter the appearance of melatonin rhythms. The literature on the possible consequences of disordered melatonin production in relation to Sudden Infant Death Syndrome, fetal origins of adult disease, and scoliosis is critically reviewed. Finally, the emerging use of melatonin to correct sleep disorders in infants and children is reviewed.
 ...
PMID:Melatonin and development: physiology and pharmacology. 1097 32

The medical findings from a population-based study of Prader-Willi syndrome (PWS) are discussed (in which birth incidence of PWS was estimated at 1:22,000 and death rate at over 3% per annum). In this study the prevalence of specific medical disorders that might account for a shortened life expectancy were investigated. Of all people with a possible diagnosis of PWS, only those meeting clinical criteria and/or with a confirmed genetic diagnosis were included in the study. Sixty-six individuals, 40 males and 26 females with a mean age of 19 years (range of 0 to 46 years) agreed to participate in the population-based study group. A prevalence rate of 25% for non-insulin dependent diabetes mellitus (NIDDM) was found in adults. Mean age at onset was 20 years. Those with NIDDM had a higher past maximum body weight and a greater likelihood of positive family history. Nearly 50% across the age groups reported a history of recurrent respiratory infections. High rates of fractures (29%), leg ulceration (22% in adults), sleep disorders (20%), and severe scoliosis (15% in childhood) were also reported. It is postulated that hypotonia is a possible contributory factor to the risk of strabismus, scoliosis, and respiratory infections. Other causes of morbidity, in particular the high rates of NIDDM, may be due to a failure to manage over-eating resulting in severe obesity. Early diagnosis and clear guidance to families about these risks and how they might be prevented is recommended. It is hypothesized that the high pain threshold may result in the presence of some illness not being apparent.
 ...
PMID:Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. 1199 93

Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics of poliomyelitis in the 1940s and 1950s. PPS is manifested by neurologic, musculoskeletal, and general manifestations. Neurologic manifestations include new weakness, muscle atrophy, dysphagia, dysphonia, and respiratory failure. Musculoskeletal manifestations include muscle pain, joint pain, spinal spondylosis and scoliosis, and secondary root and peripheral nerve compression. General manifestations include generalized fatigue and cold intolerance. New muscle weakness of a mild-to-moderate degree responds well to a nonfatiguing exercise program and pacing of activity with rest periods to avoid muscle overuse. Generalized fatigue may be treated with energy conservation and weight loss programs and lower extremity orthoses. Pharmacologic agents also may be helpful, but have not been beneficial in controlled trials. Bulbar muscle weakness includes dysphagia, dysphonia, sleep disorders, and chronic respiratory failure. Dysphagia may be improved with instruction on compensatory swallowing techniques. Dysphonia is treated with voice exercise therapy and voice amplification devices. Sleep disorders are treated similarly to sleep disorders in non-PPS patients. Respiratory failure may be treated with continuous positive airway pressure, bilevel positive airway pressure, and nasal ventilation, or tracheotomy and permanent ventilation if necessary. Musculoskeletal (muscle and joint) pain is treated with weight loss, pacing of activities, use of assistive devices, and prescribing anti-inflammatory medications and physical therapy techniques. Cardiopulmonary conditioning can be improved without muscle overuse with cycle or arm ergometer exercise or dynamic aquatic exercise.
 ...
PMID:Post-Polio Syndrome. 1475 41

This study analyzes the results of clinical trials of treatments with melatonin conducted in children, mostly focused on sleep disorders of different origin. Melatonin is beneficial not only in the treatment of dyssomnias, especially delayed sleep phase syndrome, but also on sleep disorders present in children with attention-deficit hyperactivity, autism spectrum disorders, and, in general, in all sleep disturbances associated with mental, neurologic, or other medical disorders. Sedative properties of melatonin have been used in diagnostic situations requiring sedation or as a premedicant in children undergoing anesthetic procedures. Epilepsy and febrile seizures are also susceptible to treatment with melatonin, alone or associated with conventional antiepileptic drugs. Melatonin has been also used to prevent the progression in some cases of adolescent idiopathic scoliosis. In newborns, and particularly those delivered preterm, melatonin has been used to reduce oxidative stress associated with sepsis, asphyxia, respiratory distress, or surgical stress. Finally, the administration of melatonin, melatonin analogues, or melatonin precursors to the infants through the breast-feeding, or by milk formula adapted for day and night, improves their nocturnal sleep. Side effects of melatonin treatments in children have not been reported. Although the above-described results are promising, specific studies to resolve the problem of dosage, formulations, and length of treatment are necessary.
 ...
PMID:Clinical uses of melatonin in pediatrics. 2176 Aug 17