1/10. bardet-biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.bardet-biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial polydactyly, hypogenitalism, obesity, and mental retardation. Five BBS loci have been identified; among them, BBS type 1 (BBS1) and type 3 (BBS3) are most common and most rare, respectively. We encountered an Iranian family that had seven affected members. All patients had a history of mild to severe obesity, but it was reversible in some patients by caloric restriction and exercise. All patients had pigmentary retinopathy, beginning as night blindness in early childhood and progressing toward severe impairment of vision by the end of the second decade. polydactyly varied in limb distribution, ranging from four-limb involvement to random involvement or even to nonaffectedness. Six of the seven patients were not mentally retarded. Although kidney anomaly or an adrenal mass was pres- ent in two patients, the fact that one patient had seven children rules out reproductive dysfunction. Linkage analysis with microsatellite markers showed that the disease in the family was assigned to a region around marker loci at 3p13-p12 (maximum lod score = 4.15 and recombination fraction straight theta = 0, at D3S1603 microsatellite marker), to which the BBS3 locus has been mapped. Haplotype analysis did not reduce the extent of the previously reported critical region of BBS3. A comparison of clinical manifestations of our patients with those of previously reported BBS3 patients did not support any type-specific phenotypes, though manifestations in our patients are similar to those in BBS3 patients of a family in Newfoundland.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
2/10. nitrogen metabolism and insulin requirements in obese diabetic adults on a protein-sparing modified fast.A protein-sparing modified fast (PSMF), which is a total fast modified by the intake of 1.2-1.4 gm. protein per kilogram ideal body weight (IBW), fluids ad libitum, and vitamin and mineral supplementation, allows effective control of carbohydrate metabolism and hunger. It reduces serum glucose and insulin concentrations in obese diabetic patients and increases free fatty acid and ketone body concentrations; ketonuria appears within 24-72 hours. When this fast was applied to seven obese adult-onset diabetics who were receiving 30-100 units of insulin per day, insulin could be discontinued after 0-19 days (mean, 6.5). In the three patients who had extensive nitrogen-balance studies, balance could be maintained chronically by 1.3 gm. protein per kilogram IBW, despite the gross caloric inadequacy of the diet. The PSMF was tolerated well in an outpatient setting after the initial insulin-withdrawal phase had occurred in the hospital. Significant improvements in blood pressure, lipid abnormalities, parameters of carbohydrate metabolism, and cardiorespiratory, symptoms were associated with weight loss and/or the PSMF. For diabetics with some endogenous insulin reserve, the PSMF offers significant advantages for weight reduction, including preservation of lean body mass (as reflected in nitrogen balance) and withdrawal of exogenous insulin.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
3/10. weight loss in obese children carrying the proopiomelanocortin R236G variant.To acquire more information relative to the course of obesity in conditions of food restriction in subjects carrying mutations in the melanocortin signaling pathway, 710 obese children (mean age: 9.5 /-2.1 yr; mean z-score body mass index: 3.63 /-1.6) were genotyped for the proopiomelanocortin (POMC) R236G substitution, a variant which has been associated to early onset obesity, by restriction fragment length polymorphism (RFLP) analysis. Three children were heterozygotes for the R236G variant (0.4%). One of them had the metabolic syndrome. This variant was not found in 400 controls. The 3 probands followed a hypocaloric balanced diet and, after about 12 months, normalized their weight as well as fat mass and insulin resistance. The patient with the metabolic syndrome reversed this condition. These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet.- - - - - - - - - - ranking = 2keywords = caloric (Clic here for more details about this article) |
4/10. Euthyroid goitre and sleep apnea.A number of predisposing factors (obesity, nasal obstruction, adenoidal hypertrophy, macroglossia, etc) have been related to obstructive sleep apnea syndrome (OSAS). In addition hypothyroidism and large goitres have been reported to be associated to OSAS, but this association has not been adequately studied. We describe an obese patient with euthyroid goitre associated with OSAS. The patient showed a body mass index (BMI) of 47 and a large neck with a circumference of 60 cm. The flow-volume curve demonstrated an expiratory plateau suggesting an intrathoracic upper airway obstruction. Arterial blood gas analysis results were: pH 7.39; PCO2 54.2 mmHg; P O2 47 mmHg. Nocturnal polisomnography showed an apnea/hypopnea index (AHI) of 31 episodes/hour. Upper airway collapse was overcome by a nasal continuous positive airway pressure (nCPAP) of 14 cmH2O. weight loss obtained by a hypocaloric diet was not accompanied by any OSAS improvement. After thyroidectomy, a nCPAP of 4 cmH2O was sufficient to prevent upper airway closure. Discontinuation of nCPAP treatment for 4 consecutive nights did not determine worsening of sleep apnea symptoms, nor a worsening of overnight oxymetry. A new polysomnography carried out after 4 nights off nCPAP showed an AHI of 33 episodes/hour. OSAS should be suspected in patients with large goitres. Decisions regarding discontinuation of nCPAP treatment after thyroidectomy should be based on polisomnographic results.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
5/10. Cure of sleep apnea syndrome after long-term nasal continuous positive airway pressure therapy and weight loss.Two male patients [aged 53 and 54 years; body mass index (BMI) of 36.8 and 34.4 kg/m2] presented with severely symptomatic sleep apnea syndrome. Polysomnographic recording showed sleep fragmentation, diminution of stages III and IV and continuous sleep-related disordered breathing with mixed and obstructive apneas and hypopneas, and snoring. apnea index (number of apneas per sleep-hour) was 73 and 30, respectively. These abnormalities were reversed by nasal continuous positive airway pressure (nCPAP). Home treatment with nCPAP associated with hypocaloric diet was started. Six months later, all symptoms had disappeared and BMI was 29 and 29.2 kg/m2, respectively. Polygraphic recordings without nCPAP showed regular breathing in all sleep stages, which were stable and normally abundant. Therapy has been discontinued and clinical and polygraphic data have remained normal for up to 6 and 11 months, respectively.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
6/10. diet-induced changes in trough theophylline concentrations in an elderly asthmatic patient.A 66-year old obese man with asthma was given a hypocaloric (1100 Kcal) and low protein (35 g) diet for nine days. While receiving theophylline (Theodur), 200 mg bid, his morning trough theophylline concentrations rose from 3.40 micrograms/ml to 12.7 micrograms/ml by day 9 of this diet. Following discontinuation, his theophylline concentration fell to 5.95 micrograms/ml by day 6 on home diet. The patient lost 3.67 kg during the nine-day study. Thus, a brief exposure to a hypocaloric, low protein diet in this elderly patient with asthma caused a dramatic rise in trough theophylline concentrations.- - - - - - - - - - ranking = 2keywords = caloric (Clic here for more details about this article) |
7/10. serum lipids during starvation in obesity.The HDL-cholesterol level was found to decrease during the first week of therapeutic starvation in hyperlipoproteinaemic (hypertriglyceridaemic), diabetic (non-insulin dependent) patients. The possible causes of the finding are discussed, and the view is expressed that the fall in HDL given no cause for discontinuing the caloric restriction or starvation as the therapeutic measures in obesity.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
8/10. Weight reduction. Renal mineral and hormonal excretion during semistarvation in obese patients.Three patients with exogenous obesity were studied while fed a 400-kcal constant metabolic diet, provided as a single daily meal served at consecutive ten-day periods, starting with either the "breakfast" protocol at 8 AM or the "dinner" protocol at 5 PM. Both patients 1 and 2 had notably greater weight loss with the breakfast protocol than with the dinner. However, in patient 3 this difference was not demonstrated. urine samples, collected at four-hour intervals throughout the studies and analyzed for sodium, potassium, calcium, phosphorus, 17-hydroxycorticosteroids, and aldosterone secretions, showed differences in excretion of minerals and hormones with the timing of meals. The data tentatively show an achievement of greater weight loss when the isocaloric diet is given at 8 AM.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
9/10. Behavioral treatment of obesity in patients with prader-willi syndrome.Self-monitoring combined with contingency contracting resulted in weight loss, modification of dysfunctional eating habits, and increased or sustained exercise rates for two obese, mentally retarded adolescent females with prader-willi syndrome. Contingency contracting between clients and their parents/caregivers was used to specify consequences for daily self-monitoring, reduced caloric intake, weight loss, and exercise. punishment for food stealing was also employed. Results suggest that contingency contracting is an effective technique for producing long-term weight loss in obese mentally retarded adolescents. Further, these techniques offer an alternative to the clinician considering solely dietary restriction or surgical intervention.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
10/10. Caloric requirements of a spastic immobile cerebral palsy patient: a case report.This article documents the reduced caloric requirements for a spastic, immobile, cerebral palsy patient. We report an 11-year-old immobile, spastic, quadriparetic patient who remained obese despite receiving less than one half of the recommended basal caloric requirements for age. Basal metabolic rate was determined by indirect calorimetry using a Sensor Medics 2900 instrument. Standard reference sources indicate that an able-bodied 11-year-old child of comparable height requires 1,493 kcal/d for support of basal metabolic functions. Our patient was followed for 8 weeks on reduced calories and assessed for adequacy of diet by nitrogen balance studies and other appropriate parameters. Our data suggest that a subset of severely impaired children with cerebral palsy may require much less in total kilocalories per day for nutritional support than previous studies would indicate.- - - - - - - - - - ranking = 2keywords = caloric (Clic here for more details about this article) |
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