1/74. Syndromal obesity due to paternal duplication 6(q24.3-q27).The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a 38-year-old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid-childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23-24, 6q25.3-6qter locus-specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. dna studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24-q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid-childhood.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
2/74. Duplication within chromosome region 15q11-q13 in a patient with similarities to prader-willi syndrome confirmed by region-specific and band-specific fish.We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with prader-willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and angelman syndrome was demonstrated.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
3/74. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of prader-willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history further indicated intrauterine growth retardation at the end of the pregnancy. His mother was 44 years of age at the time of his birth. After birth he showed hypotonia with poor sucking, for which gavage feeding was needed. Motor development was delayed. After 1 year he became obese despite a normal appetite. Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported. There were no behavioural problems or sleep disturbance. Chromosomal analysis was normal (46,XY). dna analysis for prader-willi syndrome showed no abnormalities. Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14). At that time precocious puberty was evident. dna analysis showed maternal heterodisomy for chromosome 14. In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before dna analysis. This is the first report of diagnosis of maternal UPD(14) based on clinical features. This finding underlines the importance of dna analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
4/74. Focal segmental glomerulosclerosis in a patient with prader-willi syndrome.The authors describe a girl with prader-willi syndrome associated with focal segmental glomerulosclerosis. Severe obesity and unilateral renal agenesis, taken together, may have played an important role in the development of her specific renal disease.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
5/74. Failure of biliopancreatic diversion in prader-willi syndrome.BACKGROUND: prader-willi syndrome (PWS) is the most common genetic obesity. Excessive weight gain follows failure-to-thrive in early infancy; in adolescents and young adults, excess body weight can exceed 100%. The hyperphagia associated with PWS is responsible for the early mortality. Dietary restriction, alone or combined with anorexic drugs, are ineffective to induce a permanent weight loss. Thus, surgical treatment of morbid obesity in PWS has been attempted, but gastric restrictive operations are unable to produce stable weight loss. In a small number of patients, favorable results have been reported with biliopancreatic diversion (BPD). CASE REPORT: A 24-year-old woman with PWS, Pickwickian, at age 21 weighed 80 kg (BMI= 50) and underwent BPD. RESULTS: 3 years after the BPD she regained 21 of the 26 kg lost; somnolence and respiratory difficulties were the same as before surgery. The patient now presents severe reduction of bone mass density, hypochromic anemia, hypoproteinemia, and diarrhea associated with eating. CONCLUSION: The regain of weight following BPD suggests that this procedure alone is not adequate for long-term control of obesity in PWS.- - - - - - - - - - ranking = 0.5keywords = obesity (Clic here for more details about this article) |
6/74. Problems in the diagnosis of fragile x syndrome in young children are still present.fragile x syndrome is common; its prevalence approaches 1 per 5,000. fragile x syndrome is the most common inherited cause of mental retardation. Many professionals must deal with fragile X individuals on a daily basis. However, despite the diverse information on the epidemiology, clinical features, unique pattern of inheritance, cytogenetic, and molecular diagnosis and scales for the diagnosis of this syndrome, the diagnosis of fragile x syndrome is still not always made by the patients' specialists. Here we present the difficulties in the diagnosis of fragile x syndrome in 11 children under 8 years of age, 10 boys and one girl. We report data on initial symptoms, behavioral features, and physical and mental development before molecular studies were considered. The possible causes for the diagnosis delay were multiple: nonspecific features (e.g., macrocephaly, overgrowth, obesity), unremarkable physical examination, family history apparently noncontributory, and lack of or delayed molecular testing. Careful clinical examination of young children and dna screening in case of doubt, and education of professionals in medical specialty areas, behavioral sciences, education, and other fields are recommended.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
7/74. Aggravation of food-related behavior in an adolescent with prader-willi syndrome treated with fluvoxamine and fluoxetine.prader-willi syndrome is a congenital multisystem disorder, characterized by a typical dysmorphism, mental retardation, hyperphagia due to insatiable appetite, and resultant morbid obesity. Psychiatric symptoms include obsessions and temper tantrums. METHOD: Pharmacotherapy is experimental with a few reports of successful fluoxetine treatment. RESULTS: We report an aggravation in the food-related symptoms and a consequent weight gain in an adolescent with prader-willi syndrome, who was treated with fluvoxamine and fluoxetine.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
8/74. Topiramate attenuates self-injurious behaviour in prader-willi syndrome.Self-injurious behaviour (SIB), most notably skin picking, has been described by various terms in the literature ranging from neurotic/psychogenic excoriations to compulsive/pathological skin picking. prader-willi syndrome (PWS) is a neurogenetic multisystem disorder characterized by infantile hypotonia, mental retardation, short stature, hypogonadism, dysmorphic features, and hyperphagia with a high risk of obesity. Psychiatric manifestations include SIBs in the form of skin picking, nail biting and rectal gouging. Topiramate is a novel anti-epileptic medication without significant liability of weight gain. There are no published reports of topiramate being utilized in PWS or SIB. We report attenuation of SIB with resultant lesion healing in three PWS adults treated with topiramate in an 8-wk open-label trial. Although our findings should be treated with caution, they suggest that double-blind or cross-over studies with topiramate are warranted to establish the possible role of topiramate in attenuating SIB in PWS and other disorders that involve SIB.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
9/74. Autonomy and intellectual disability: the case of prevention of obesity in prader-willi syndrome.BACKGROUND: The policy concerning care for people with intellectual disability (ID) has developed from segregation via normalization towards integration and autonomy. Today, people with ID are seen as citizens who need to be supported to achieve a normal role in society. The aim of care is to optimize quality of life and promote self-determination. The promotion of autonomy for people with ID is not easy and gives rise to ethical dilemmas. caregivers are regularly confronted with situations in which there is a conflict between providing good care and respecting the client's autonomy. This becomes evident in the case of prevention of obesity in people with prader-willi syndrome (PWS). METHOD: As part of a study about the ethical aspects of the prevention of obesity, in-depth qualitative interviews were conducted with the parents and professional caregivers of people with PWS. RESULTS: In analysing interviews with parents and formal caregivers, the present authors found that the dichotomy between respecting autonomy and securing freedom of choice on the one hand, and paternalism on the other, is too crude to do justice to the process of care. The stories indicated that caregivers see other options and act in other ways than to intervene without taking into account the wishes of the individual with PWS. The present authors elaborated these options, taking models of the physician-patient relationship as a heuristic starting point. They extended the logic of these models by focusing on the character of the process of interaction between caregiver and care receiver, and on the emotional aspects of the interactions. CONCLUSION: This approach results in more attention to processes of interpretation, deliberation and joint learning.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
10/74. Concurrence of fragile x syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible prader-willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, xyy karyotype and the presence of a trinucleotide repeat expansion resulting in fragile x syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile x syndrome in the medical literature. review of sex chromosome abnormalities associated with fragile x syndrome and phenotypic considerations are presented.- - - - - - - - - - ranking = 0.16666666666667keywords = obesity (Clic here for more details about this article) |
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