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Research Notes: PWS Abstracts - 1995[ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] Chest. 1995 Dec. Study objective: Prader-Willi syndrome (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, short stature, temperature instability, hypogonadotropic hypogonadism, and neurosecretory growth hormone deficiency. Patients with PWS are reported to have sleep-disordered breathing and have blunted hypercapnic ventilatory responses secondary to abnormal peripheral chemoreceptor function. Thus, we hypothesized that hypercapnic arousal responses would be abnormal in PWS. Design: Hypercapnic arousal responses were tested in ten nonobese children and adults with PWS, aged 17.7 +/- 2.5 (SEM) years, 70% female, and nine control subjects, aged 14.2 +/- 2.6 years, 67% female. Hypercapnic challenges were performed during stage 3/4 non-rapid eye movement sleep. Results: The PWS subjects had a significantly higher arousal threshold to hypercapnia compared with the controls (53 +/- 1.0 vs 46 +/- 1.7 mm Hg; p < 0.01). The PWS subjects had significantly higher baseline end-tidal CO2 levels (42 +/- 0.8 vs 38 +/- 1.1 mm Hg; p < 0.01) and more central apneas greater than 15 s/h of sleep (1.5 +/- 0.3 vs 0.1 +/- 0.1; p < 0.01). Conclusions: Elevated hypercapnic arousal thresholds during sleep are found in PWS subjects; these may be a manifestation of abnormal peripheral chemoreceptor function and may further contribute to sleep-disordered breathing in PWS patients. Masui. 1995 Dec. A patient with Prader-Willi syndrome developed bronchospasm during anesthesia. The patient was a 9-year-old boy and was scheduled for orchiopexy. His psychomotor development was delayed, and at 12 months of age he was diagnosed as Prader-Willi syndrome by chromosomal examination. The patient weighed 17 kg, was 111 cm tall, and had no symptom of upper respiratory infection preoperatively. Preoperative examinations were normal except supraventricular extrasystole in electrocardiogram. Following administration of scopolamine 0.15 mg intramuscularly as preanesthetic medication, anesthesia was induced smoothly by slow induction using N2O-O2-sevoflurane. However, right after endotracheal intubation with vecuronium 2 mg, remarkable stridor was noticed. Despite hyperventilation, the patient exhibited hypercapnia, and the diagnosis of bronchospasm was made. Aminophylline and steroid were administered intravenously and halothane was inhaled instead of sevoflurane. The bronchospasm was improved gradually and surgery was finished. Prader-Willi syndrome is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, hypogonadism and obesity. In the perioperative management for a patient with Prader-Willi syndrome, special attention must be paid to the abnormalities in the upper and lower respiratory systems. Schweiz Med Wochenschr. 1995 Jun 3. Although excess fat deposition in the omentum and obesity have been suggested as possible predisposing factors for omental torsion, no previous descriptions of an association between the Prader-Willi syndrome and omental torsion have been found in the literature. We therefore report the case of a 6-year-old boy with Prader-Willi syndrome and primary torsion of the greater omentum. J Intellect Disabil Res. 1995 Jun. For the study of the personality profile of youngsters with Prader-Willi syndrome (PWS), a PWS group was compared with a matched group of youngsters attending regular school. The PWS group consisted of 28 youngsters (12 males and 16 females; mean age 11 years, 11 months). These youngsters were matched on gender and age level with 28 youngsters out of a group of 333 youngsters in regular school. Behaviour and personality characteristics of each youngster in both groups were described by both parents, using a Dutch version of the California Child Q-set (CCQ; Block & Block 1980). The present authors compared the scores of both groups on eight personality dimensions, derived from the aggregated CCQ-descriptions for fathers and mothers. The personality dimensions were Extraversion, Agreeableness, Conscientiousness, Emotional Stability, Openness, Motor Activity, Irritability and Dependency. The authors investigated further individual differences of PWS youngsters on the same eight CCQ personality dimensions, considering gender and age level as well as IQ level and the presence or absence of a 15q11-q13 deletion. The personality profile of PWS youngsters was markedly different from youngsters in regular school. Some personality characteristics were related to gender and IQ. The lower level of physical activity in PWS girls without 15q11-q13 deletion needs further study. Am J Med Genet. 1995 Mar 27. Polysomnographic recordings of 43 children and adults with Prader-Willi syndrome (PWS) were inspected and classified into 5 age groups. The effect of age and body mass index (BMI) on measures of breathing, oxygen saturation, and sleep efficiency were analyzed. Body mass index (BMI) increased significantly between early childhood and preadolescent groups. Subjecting the data to analysis of variance showed an overall significant effect of BMI but no age effect on breathing parameters and oxygen saturation. Increased BMI was associated with decreased oxygen saturation and with higher apnea/hypopnea index. Sleep efficiency index was significantly lower in adults than in young children, preadolescent, and adolescent groups. These findings emphasize the role of obesity in the development of sleep-related breathing abnormalities and nocturnal oxygen desaturation in patients with PWS. J Clin Endocrinol Metab. 1995 Feb. Animal experiments have shown that the parvocellular oxytocin (OXT) neurons of the hypothalamic paraventricular nucleus (PVN) inhibit food intake. In the present study, the PVN and its OXT neurons have been investigated in an extreme human eating disorder, i.e. the Prader-Willi syndrome (PWS). PWS patients are characterized by gross obesity, insatiable hunger, hypotonia, hypogonadism, and mental retardation. The PVN of 5 PWS patients (2 males and 3 females), varying in age between 22-64 yr, and 27 controls (14 males and 13 females) without any primary neurological or psychiatric diseases was morphometrically investigated after conventional staining with thionine and immunocytochemical staining for OXT and vasopressin (AVP). The thionine-stained volume of the PVN was 28% smaller in PWS patients (P = 0.028), and the total cell number was 38% lower (P = 0.009). The immunoreactivity for OXT and AVP was decreased in PWS patients, although the variability within the groups was high. A strong and highly significant decrease (42%; P = 0.016) was found in the number of OXT-expressing neurons of the PWS patients. The volume of the PVN-containing OXT-expressing neurons decreased by 54% (P = 0.028) in PWS. The number of AVP-expressing neurons in the PVN did not change significantly. The OXT neurons of the PVN seem to be good candidates for playing a physiological role in ingestive behavior as "satiety neurons" in the human hypothalamus. [ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] |