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In the formation of gallstone diseases, there are numerous genes, that are held responsible for liver disorders primarily and diseases of bile flow and bile formation, modification of lipid metabolism diabetes mellitus, obesity, glutene sensitive enteropathy, Crohn-disease, Down syndrome, Gucher syndrome, cystic fibrosis as well as haematological disorders and state following ileum resection. In the development of these, bacterial infections, inflammatory reactions, metal element power and free radicals play an important role. Fatty acids, lipid oxides, diene conjugates and other lipid peroxidation products are moving from the liver to the bile, and they initiate primer and secondary free radical reactions in the bile duct and gallbladder. The inflammation processes in the gallbladder wall produce free radicals. The free bilirubin content of the bile behaves pro- and antioxidant molecules. The ambivalent property of free bilirubin, which is detected concentration in the gallbladder bile -- from microsomal leakage or as a consequence of bacterial deglucuronidation -- increases the free radical reactions in the gallbladder. The gallstone formation of free bilirubin with metal ions, primarily Ca ++ ions makes calcium hydrogen bilirubinate in the bile. Calcium ions can react with fatty acids and hereby modify the bile viscosity. The lipids, free bilirubin and metal elements are all components in stone formation. Antioxidants, concerning their derivates or molecules, medicines, which increase antioxidant property can influence the bile composition or inhibit the gallstone formation on several levels.
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PMID:[Gallstone disease: free radical reactions and the ambivalent role of bilirubin in the pathomechanism of gallstone formation]. 1738 52

Alterations in energy balance and feeding behavior and the subsequent high frequency of obesity are hallmarks of 2 chromosomal diseases: the Prader-Willi syndrome (PWS) and the Down syndrome (DS). Leptin, an important regulator of food intake and energy homeostasis, circulates in 2 forms: a free, therefore active, fraction and a fraction bound to the soluble leptin receptor, whose bioavailability consequently participates in the regulation of leptin action. To investigate the possible role of the free-bound leptin balance in the pathogenesis of obesity in PWS and DS, we enrolled 7 obese women with DS, 5 obese women with PWS, 7 obese women, and 7 normal-weight healthy control women. Basal hormonal concentrations, total and free leptin levels, and leptin receptors levels were measured in plasma samples obtained from the 4 groups. No significant differences were observed in the hormonal milieu. Women with DS exhibited lower total leptin concentrations (P<.01), comparable leptin receptor level and, therefore, lower free leptin values (P<.01) when compared with obese controls, then resembling the profile peculiar to normal-weight control women. At variance, subjects with PWS did not differ from obese controls regarding both leptin and leptin receptor levels. Our data suggest that, whereas subjects with PWS have a leptin assessment corresponding to their degree of obesity, subjects with DS may have a defect in the secretion of leptin that could at least partially account for this form of syndromal obesity.
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PMID:Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader-Willi and the Down syndromes. 1761 52

Individuals with Down syndrome typically have low fitness levels and obesity despite data that indicate physiological gains from physical activity and exercise interventions. Low fitness levels and obesity in individuals with Down syndrome may be related to sedentary lifestyles, social and recreational opportunities, or low motivation to be physically active. These causal influences on the overall health of individuals with Down syndrome may be related to parental or caregiver support. Through this study, parents of children with Down syndrome from preschool to adolescent ages were interviewed about their perceptions of the health and physical activity needs of their children. Data from four focus groups indicated the following most salient themes: (1) all parents believed participation in physical activity has immediate and long-term positive health impacts on their child with Down syndrome, and most of the parents thought their child would benefit from being more physically active, (2) most parents observed that their child participated in physical activities primarily for social reasons, most notably to be with their peers with or without Down syndrome or to be with their sibling(s), and that without such motivation their child would choose sedentary activities, (3) parents of teenagers identified a need for their child to learn an individual sport to have sporting opportunities that do not require ability-matched teammates and opponents, and (4) parents recognised their need for help from physical activity specialists through either parent education regarding home-based physical activity programmes or an increase in appropriate community-based physical activity programmes for their child with Down syndrome. The interview data suggest future research should evaluate the outcomes of long-term individualised home-based physical activity interventions for children with Down syndrome. Additionally, educators, recreation specialists, and therapists should assist children and youth with their acquisition of skills used in individual and dual sports.
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PMID:Parents' perceptions of health and physical activity needs of children with Down syndrome. 1769 90

The number of people over the age of 60 years with lifelong developmental delays is predicted to double by 2030. Down syndrome (DS) is the most frequent chromosomal cause of developmental delays. As the life expectancy of people with DS increases, changes in body function and structure secondary to aging have the potential to lead to activity limitations and participation restrictions for this population. The purpose of this update is to: (1) provide an overview of the common body function and structure changes that occur in adults with DS as they age (thyroid dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer disease, depression) and (2) apply current research on exercise to the prevention of activity limitations and participation restrictions. As individuals with DS age, a shift in emphasis from disability prevention to the prevention of conditions that lead to activity and participation limitations must occur. Exercise programs appear to have potential to positively affect the overall health of adults with DS, thereby increasing the quality of life and years of healthy life for these individuals.
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PMID:Aging and Down syndrome: implications for physical therapy. 1771 35

Studies have evidenced that zinc metabolism is altered in presence of Down syndrome, and zinc seems to have a relationship with the metabolic alterations usually present in this syndrome. In this work, the Zn-related nutritional status of adolescents with Down syndrome was evaluated by means of biochemical parameters and diet. A case-control study was performed in a group of adolescents with Down syndrome (n = 30) and a control group (n = 32), of both sexes, aged 10 to 19 years. Diet evaluation was accomplished by using a 3-day dietary record, and the analysis was performed by the NutWin program, version 1.5. Antropometric measurements were performed for evaluation of body composition. The Zn-related nutritional status of the groups was evaluated by means of zinc concentration determinations in plasma and erythrocytes, and 24-h urinary zinc excretion, by using the method of atomic absorption spectroscopy. The diet of both groups presented adequate concentrations of lipids, proteins, carbohydrates, and zinc. The mean values found for zinc concentration in erythrocytes were 49.2 +/- 8.5 microg Zn/g Hb for the Down syndrome group and 35.9 +/- 6.1 microg Zn/g Hb for the control group (p = 0.001). The average values found for zinc concentration in plasma were 67.6 +/- 25.6 microg/dL for the Down syndrome group and 68.9 +/- 22.3 microg/dL for the control group. The mean values found for zinc concentration in urine were 244.3 +/- 194.9 microg Zn/24 h for the Down syndrome group and 200.3 +/- 236.4 microg Zn/24 h for the control group. Assessment of body composition revealed overweight (26.7%) and obesity (6.6%) in the Down syndrome group. In this study, patients with Down syndrome presented altered zinc levels for some cellular compartments, and the average zinc concentrations were low in plasma and urine and elevated in erythrocytes.
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PMID:Zinc nutritional status in adolescents with Down syndrome. 1791 50

The present study examined the health status and outpatient health care utilization among 52 adults with severe or profound intellectual disabilities (IDs) living with their families or in group homes in New York City. Bivariate and regression analyses among demographic variables, medical conditions, health care utilization, and type of living situation were conducted. Findings indicate that demographic factors and health statuses were similar regardless of living situation, except for age and the presence of Down Syndrome, that is, younger people and people with Down Syndrome were more likely to live with family than in group homes. The results indicated that regardless of where they lived, individuals had high rates (70%) of overweight/obesity. The mean number of internal medicine, specialty medicine, nursing, and total clinic visits were significantly higher for those living in group homes compared to those living with their families. The findings and their implications are discussed with respect to social work policy and practice.
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PMID:Examining outpatient health care utilization among adults with severe or profound intellectual disabilities living in an urban setting: a brief snap shot. 1798 33

The Declaration of Nutrition, Health, and Intelligence for the Child-to-be is an urgent cry from the unborn child for a life-span of nutrients for physical and mental wellness. It is a proclamation of paramount importance for everyone involved in child development: parents, health professionals, teachers, government agencies, all producers of food--and children, so they may learn how to feed themselves well. The Declaration of Olympia on Nutrition and Fitness, 1996, came from a group pf nutritional scientists and medical doctors to commemorate the Olympic Games' 100th anniversary. They based it on the health principles of Hippocrates: genetics, the age of the individual, the powers of various foods, and exercise. Following today's vast wealth of nutritional research and expressing it with my teaching experience, I have revitalized the Declaration of Olympia by writing from the heart of the little learner and the hope of the child-to-be. The nutrients implicated in healthy reproduction and lifelong health include B vitamins, particularly B1, B6, folate, B1312 antioxidants, particularly vitamins C and E: minerals such as iron, zinc, magnesium, selenium, iodine, and copper; and essential fatty acids, particularly DHA. These nutrients also lower the risk of neural tube defects: autism, dyslexia, Down's syndrome: childhood cancers, obesity, and defective fetal cell membranes associated with maternal diabetes. Our metabolism is hugely influenced also by activity and by affection. Today's foods are often processed beyond the cells' recognition and can result in neurological and physical morbidity and mortality. A diet of unprocessed free-range animals and seafood: legumes, deep-colored vegetables and fruits: nuts, seeds, and whole grains, germ and bran, reinstates nutritional potency.
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PMID:The declaration of nutrition, health, and intelligence for the child-to-be. 1830 69

Our goal was to examine the gait patterns of older adults with Down syndrome (DS) for precocious stabilizing adaptations during comfortable over-ground walking and in more challenging conditions. Twelve participants with DS and 12 with typical development (TD) were matched for height, weight and age (range 35-62 years). We used a six-camera motion capture system to assess foot trajectories over obstacles. Participants first walked at their preferred speed over a 5.3 m instrumented gait mat (unperturbed condition). Subsequent walking trials included perturbations mid-walkway: (a) minimal obstacle to step over (12 cm high), (b) moderate obstacle to step onto with both feet and then off (standard step), and (c) maximum obstacle to step onto with only one foot and over with the other (standard step). Adults with DS walked slower with shorter, wider strides while spending more time in both stance and double support. These adaptations increased during the moderate and maximal perturbations. They stepped with the minimal perturbation obstacle further forward in their crossing step and produced a lower, flatter trajectory of the lead foot, with less dorsiflexion at crossing. This strategy decreased trailing toe clearance but did not alter leading heel clearance. The combined effects of ligamentous laxity, low tone, obesity, inactivity and physiological decrements associated with aging lead to these stability-enhancing adaptations at a younger chronological age in adults with DS. We believe intervention to increase overall stability will be beneficial in helping adults with DS maintain optimal functional mobility and health.
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PMID:Early onset of stabilizing strategies for gait and obstacles: older adults with Down syndrome. 1835 29

A 24-year-old adult with a Down syndrome was admitted in December 2006 at the Moutiers hospital in the French Alps for an acute inaugural episode of high altitude pulmonary edema (HAPE) that occurred in the early morning of day 3 after his arrival to La Plagne (2000 m). This patient presented an interventricular septal defect operated on at the age of 7, a hypothyroidism controlled by 50 microg levothyrox, a state of obesity (BMI 37.8 kg/m(2)), and obstructive sleep apneas with a mean of 42 obstructive apneas or hypopneas per hour, treated with continuous positive airway pressure (CPAP). The patient refused to use his CPAP during his stay in La Plagne. At echocardiography, resting parameters were normal, with a left ventricular, ejection fraction of 60%, a normokinetic right ventricle, and an estimated systolic pulmonary artery pressure (sPAP) of 30 mmHg. At exercise, sPAP rose to 45 mmHg and the right ventricle was still normokinetic and not dilated. An exercise hypoxic tolerance test performed at 60 W and at the equivalent altitude of 3300 m revealed a severe drop in arterial oxygen saturation down to 60%, with an abnormal low ventilatory response to hypoxia, suggesting a defect in peripheral chemosensitivity to hypoxia. In conclusion, patients with Down syndrome, including adults with no cardiac dysfunction and regular physical activity, are at risk of HAPE even at moderate altitude when they suffer from obstructive sleep apneas associated with obesity and low chemoresponsiveness. This observation might be of importance since an increasing number of young adults with Down syndrome participate in recreational or sport activities, including skiing and mountaineering.
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PMID:High altitude pulmonary edema, down syndrome, and obstructive sleep apneas. 1857 49

Obstructive sleep-disordered breathing in children is a relatively common problem, presenting in various ways, from primary snoring, without an apparent decrease in quality of life, to obstructive sleep apnea with cognitive, cardiac, and growth abnormalities. History, clinical examination, radiologic evaluations, sleep studies, and other diagnostic modalities are reviewed. Since application and interpretation of these methods are not consistent in studies of snoring, a consensus on optimal treatment options has not been established. Traditionally, adenotonsillectomy has long been the treatment of choice. Treatment failures or recurrences as well as the existence of causes and contributing factors other than adenotonsillar hypertrophy, like obesity, facial malformations, and Down syndrome, have changed the concept of adenotonsillectomy as the ultimate cure. Several other treatment options have been proposed on their own or in combination. Continuous positive airway pressure, anti-inflammatory medications, maxillofacial, and orthodontic treatments are reviewed suggesting the need of a multidisciplinary approach in some cases. Finally, at the end of the chapter, a diagnostic and treatment work up based on current evidence is proposed for otherwise normal children or children with specific conditions.
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PMID:Clinical practice: diagnosis and treatment of childhood snoring. 1962 Dec 44


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