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Research Notes: PWS Abstracts - 1997[ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] J Neuropsychiatry Clin Neurosci. 1997 Winter. Plasma gamma-aminobutyric acid (GABA) levels were measured in 14 subjects with Prader-Willi syndrome, 9 subjects with Angelman syndrome, and matched control subjects. Mean levels in both patient groups were 2 to 3 times higher than in nonretarded moderately obese or retarded nonobese control subjects. Levels in each patient group differed significantly from both control groups. Neither the two patient groups nor the two control groups differed. GABA levels seemed unrelated to genetic status (chromosome 15 deletion or disomy). These preliminary findings of elevated plasma GABA levels possibly represent a compensatory increase in presynaptic GABA release in response to hyposensitivity of a subset of GABA receptors and could produce increased postsynaptic activation of other normal GABA receptor subtypes, resulting in complex alterations of GABAergic function throughout the brain. Acta Paediatr Suppl. 1997 Nov. Disturbances of the hypothalamic-pituitary-gonadal axis are reviewed in patients with Prader-Willi syndrome, and a brief account is given of thyroid function, adrenal function and glucose metabolism in such patients. Cryptorchidism, hypoplastic external genitalia and delayed or incomplete pubertal development in most patients with Prader-Willi syndrome suggest dysfunction of the hypothalamic-pituitary-gonadal axis. Decreased levels of gonadotrophins, consistent with hypogonadotrophic hypogonadism, have been found in some patients, whereas others appear to have hypergonadotrophic hypogonadism secondary to cryptorchidism and its treatment. Gonadal function is normal in a small number of patients with the syndrome. Although most clinicians agree that cryptorchidism should be corrected in early childhood, in practice the surgery is often not performed. In addition, most patients do not receive sex hormone replacement therapy. It is therefore suggested that more aggressive endocrine treatment strategies for hypogonadism are warranted in both children and adults with Prader-Willi syndrome. Both thyroid function and adrenal function appear to be normal in most patients, and glucose metabolism is similar to that in normal obese individuals. Pediatr Res. 1997 Nov. To study the potential role of the ob gene pathway in childhood obesity, we have investigated leptin mRNA levels in s.c. adipose tissue obtained from nonobese prepubertal children (n = 20), obese nonsyndromal children (n = 6), and children with Prader-Willi syndrome (n = 6) by in situ hybridization histochemistry. We have also investigated the fasting serum leptin levels in such children. Compared with nonobese children, leptin mRNA expression was higher both in children with Prader-Willi syndrome and in children with nonsyndromal obesity (p < 0.01). Furthermore, the serum leptin levels were also significantly higher in both children with Prader-Willi syndrome and nonsyndromal obesity compared with the nonobese children (p < 0.001). However, no significant differences in adipose tissue leptin mRNA or serum leptin levels were observed between children with Prader-Willi syndrome and nonsyndromal obese children. As expected both fasting serum leptin levels and leptin mRNA expression levels correlated to body mass index (rs = 0.80 and 0.73, respectively, p < 0.005). No difference in leptin expression between Prader-Willi syndrome and nonsyndromal childhood obesity could be revealed in the present study. However, differences in the hypothalamic response to leptin between the two forms of obesity cannot be excluded. Rev Esp Anestesiol Reanim. 1997 Oct. No abstract available. J Intellect Disabil Res. 1997 Aug. Eleven individuals with Prader-Willi syndrome (PWS), aged between 4 and 25 years, were compared with II non-PWS children of the same sex, age, body mass index and IQ level. Voice, speech and language skills were generally impaired in subjects with PWS. Oral motor function, pitch level and resonance were specifically disordered and clearly differentiated the two groups from each other. Certain biological perinatal factors separated subjects with PWS from other obese children and adolescents, but did not differentiate within the group with PWS and could not account for the speech/language problems. Underlying cerebral dysfunction, combined with a characteristic anatomy of the mouth and larynx in PWS, contributes to altered voice, speech and language function. Gynecol Endocrinol. 1997 Apr. Prader-Willi syndrome (PWS) is a complex multisystemic congenital disorder due to an interstitial deletion of chromosome 15q11-13 or to maternal uniparental disomy. Molecular genetic testing is complex, and often requires DNA from both parents, which is not always available. An accurate medical history and presenting clinical signs are frequently the only tools for the clinical diagnosis of this syndrome, therefore it is important to have complete and accurate criteria. The presence of a bilateral non-communicating paraurethral meatus in a 9-year-old female patient affected by PWS, previously unreported in the literature, should induce clinicians to look for this sign when examining such patients. Eur J Pediatr. 1997 Jan. Physiological parameters of infants and children with Prader-Willi syndrome were examined in order to clarify whether there were indicators of disturbed respiratory control mechanisms in the pre-obesity stage of the syndrome. From January 1993 to March 1995 in eight patients with Prader-Willi syndrome (five boys, three girls, aged 6 weeks-12.5 years), polysomnography was performed and compared with 28 children matched for gestational age, sex, birth weight and age at sleep study. The recordings included thoracic and abdominal breathing movements, nasal airflow, tcPO2, tcPCO2, oxygen saturation, EEG, EOG and ECG. Respiratory responses to hypercapnia during quiet sleep were obtained from five Prader-Willi patients and ten peers. The Prader-Willi group showed an increased number of apnoeas per hour of sleep, a decreased nadir of oxygen saturation, increased maximum of the instantaneous heart rate and decreased respiratory responses to hypercapnia during quiet sleep. CONCLUSION: These findings indicate a primary disturbance of central respiratory control in patients with Prader-Willi syndrome which may be worsened by the development of obesity. Ann Dermatol Venereol. 1997. INTRODUCTION: The Prader-Labhart-Willi syndrome was first described in 1956. Prader-Labhart-Willi syndrome is the most common genetic form of human obesity and the incidence of Prader-Labhart-Willi syndrome has been estimated to 1 in 10,000 or 25,000 live births. Skin-picking was frequently reported in Prader-Labhart-Willi syndrome and two patients who displayed repetitive skin picking are described. OBSERVATIONS: Two childrens (6 year-old girl and 7 year-old boy) were examined and noted superficial ulcers of their arms and legs. This cutaneous lesions were induced by children themselves. Skin-picking, in our cases, were associated with behavior problems (temper tantrums, violence). CONCLUSIONS: Skin-picking appears to occur in the great majority of patients with Prader-Labhart-Willi syndrome and constitutes a minor criteria of diagnosis. Hypopigmentation in Prader-Labhart-Willi syndrome appears to be as common as previously features. Significant differences in hair color, sun sensitivity and complexion were found between those patients with chromosome 15 deletion and those with normal chromosome. Association between obesity (onset before 6 years) and skin picking constitute a sign for diagnosis of Prader-Labhart-Willi syndrome. [ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] |