Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.
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PMID:Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? 368 18

Salmonellosis in older children and adults is usually a self-limited disease, but the risk of complications in infants is not well-defined. We performed a retrospective review of 52 patients. 90 days of age or less, seen at the St. Louis Children's Hospital between 1975 and 1981 with stool cultures positive for salmonella. Sixteen were 30 days old or less (neonates), 21 were 31- 60 days of age, and 15 were 61-90 days old. Among patients in whom blood cultures were done initially, bacteremia was most frequent in neonates: 5/11 (45%), compared to 2/18 (11%) in older infants. All seven infants presenting with bacteremia received 10 or more days of antibiotic therapy: yet complications (osteomyelitis, fatal meningitis or chronic diarrhea) developed in three of five neonates and one of two older infants. Complications also developed in seven of 22 patients who initially had negative blood cultures, including two infants in whom sepsis later developed and two infants who required intravenous hyperalimentation because of chronic diarrhea and malnutrition. The group of 23 patients who did not have blood cultures all did well. Salmonellosis is not necessarily a self-limited infection in young infants. Even in the absence of bacteremia, clinicans would appear to be justified in using antimicrobial therapy in infants 3 months of age or les with salmonella gastroenteritis, particularly neonates of older infants with symptoms of dysentery or failure to thrive.
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PMID:Salmonella gastroenteritis in the first three months of life. A review of management and complications. 714 Jan 21

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
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PMID:Hormonal change in an adult with Prader-Willi syndrome: report of a case. 791 75

Prader-Willi syndrome (PWS) is a neurobehavioural disorder characterized by neonatal respiratory depression, hypotonia and failure to thrive in infancy, followed by hyperphagia and obesity among other symptoms. PWS is caused by the loss of one or more paternally expressed genes on chromosome 15q11-q13, which can be due to gene deletions, maternal uniparental disomy or mutations disrupting the imprinting mechanism. Imprinted genes mapped to this region include SNRPN (refs 3,4), ZNF127 (ref. 5), IPW (ref. 6) and NDN (which encodes the DNA-binding protein necdin; refs 7,8,9,10). The mouse homologues of these genes map to mouse chromosome 7 in a region syntenic with human chromosome 15q11-q13 (refs 7,11). Imprinting of the human genes is under the control of an imprinting center (IC), a long-range, cis-acting element located in the 5' region of SNRPN (ref. 12). A related control element was isolated in the mouse Snrpn genomic region which, when deleted on the paternally inherited chromosome, resulted in the loss of expression of all four genes and early post-natal lethality. To determine the possible contribution of Ndn to the PWS phenotype, we generated Ndn mutant mice. Heterozygous mice inheriting the mutated maternal allele were indistinguishable from their wild-type littermates. Mice carrying a paternally inherited Ndn deletion allele demonstrated early post-natal lethality. This is the first example of a single gene being responsible for phenotypes associated with PWS.
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PMID:Disruption of the mouse necdin gene results in early post-natal lethality. 1050 1

Ghrelin and peptide YY (PYY) are peptides generally produced by the gastrointestinal organs which are involved in appetite regulation via highly specialized centers in the brain. Abnormal plasma ghrelin and PYY levels compared with controls have been reported for subjects with Prader-Willi syndrome (PWS) which is characterized by infantile hypotonia, poor suck reflex and failure to thrive followed by hyperphagia and marked obesity in early childhood. We studied gene expression of ghrelin, peptide YY, and their receptors (i.e., GHS-R1a, GHS-R1b, and NPY2R) in six different brain regions (frontal cortex, temporal cortex, visual cortex, pons, medulla, and hypothalamus) obtained from three subjects with PWS, two individuals with Angelman syndrome, and six controls to determine if expression of these genes is detectable in different regions of the brain in subjects with and without PWS. In general, expression of these genes using RT-PCR was detected in all subjects and no obvious differences were seen in their pattern of expression between subjects with or without PWS. Additional studies including quantitative gene expression measurements will be required to further evaluate the role of these genes in the eating disorder seen in PWS.
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PMID:Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome. 1575 36

Prader-Willi syndrome (PWS) has a biphasic clinical phenotype with failure to thrive in the neonatal period followed by hyperphagia and severe obesity commencing in childhood among other endocrinological and neurobehavioral abnormalities. The syndrome results from loss of function of several clustered, paternally expressed genes in chromosome 15q11-q13. PWS is assumed to result from a hypothalamic defect, but the pathophysiological basis of the disorder is unknown. We hypothesize that a fetal developmental abnormality in PWS leads to the neonatal phenotype, whereas the adult phenotype results from a failure in compensatory mechanisms. To address this hypothesis and better characterize the neonatal failure to thrive phenotype during postnatal life, we studied a transgenic deletion PWS (TgPWS) mouse model that shares similarities with the first stage of the human syndrome. TgPWS mice have fetal and neonatal growth retardation associated with profoundly reduced insulin and glucagon levels. Consistent with growth retardation, TgPWS mice have deregulated liver expression of IGF system components, as revealed by quantitative gene expression studies. Lethality in TgPWS mice appears to result from severe hypoglycemia after postnatal d 2 after depletion of liver glycogen stores. Consistent with hypoglycemia, TgPWS mice appear to have increased fat oxidation. Ghrelin levels increase in TgPWS reciprocally with the falling glucose levels, suggesting that the rise in ghrelin reported in PWS patients may be secondary to a perceived energy deficiency. Together, the data reveal defects in endocrine pancreatic function as well as glucose and hepatic energy metabolism that may underlie the neonatal phenotype of PWS.
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PMID:Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive. 1600 20

In 11 patients with a recessive congenital disorder, which we refer to as "the hypotonia-cystinuria syndrome," microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found. Patients present with generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL. PREPL is localized in the cytosol and shows homology with prolyl endopeptidase and oligopeptidase B. Substitution of the predicted catalytic residues (Ser470, Asp556, and His601) by alanines resulted in loss of reactivity with a serine hydrolase-specific probe. In sharp contrast to prolyl oligopeptidase and oligopeptidase B, which require both aminoterminal and carboxyterminal sequences for activity, PREPL activity appears to depend only on the carboxyterminal domain. Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome.
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PMID:Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. 1638 48

Cyclic vomiting syndrome (CVS) is a disorder characterized by recurrent, stereotypic episodes of incapacitating nausea, vomiting, and other symptoms, separated by intervals of comparative wellness. Associated symptoms include nausea, abdominal pain, headache, and motion sickness. Recently, CVS was categorized as a migraine. Case 1 was a girl aged 4 years and 11 months, who had frequent and severe episodes of vomiting since she was 3 years old. The diagnosis of CVS was established on the basis of clinical symptoms and laboratory data. Her electroencephalogram was normal. Prophylactic therapy using a single drug such as amitriptyline, carbamazepine, phenytoin, cyproheptadine, valproate sodium or phenobarbital was not effective. However, her recurring vomiting disappeared with prophylactic therapy using valproate sodium and phenobarbital. Case 2 was a boy aged 10 years and 7 months, who had frequent episodes of vomiting since he was 1 year and 10 months old. He had been receiving intravenous hyperalimentation therapy at home since infancy because of frequent vomiting and failure to thrive. His electroencephalogram showed no abnormality. Prophylactic therapy using a single drug such as diazepam, phenytoin, valproate sodium or phenobarbital was not effective. However, his recurring vomiting disappeared with prophylactic therapy using valproate sodium and phenobarbital. There were no adverse effects in both patients. The combination therapy with valproate sodium (20 - 26 mg/kg/day) and phenobarbital (4 - 5 mg/kg/day) was effective as a prophylactic therapy in these two patients. The combination therapy with valproate sodium and phanobarbital for prophylaxis of vomiting may be helpful in patients with intractable CVS.
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PMID:[The effect of prophylactic therapy with valproate sodium and phenobarbital in two patients with cyclic vomiting syndrome]. 1880 88

Prader-Willi syndrome (PWS) is a complex, genetic, multisystem disorder. Its major clinical features include neonatal hypotonia and failure to thrive, mental retardation, hypogonadism, short hands and feet, hyperphagia-caused obesity, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by the absence of expression of the active paternal genes such as the SNRPN, NDN, and possibly others in the PWS critical region on 15q11-13. PWS is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted. Consensus in clinical diagnostic criteria was established in 1993. However, identifying relevant patients for tests remains a challenge for most practitioners, as many features of the disorder are nonspecific, and others can be subtle or evolved over time. Consequently, molecular genetic tests can be used to diagnose PWS accurately, allowing early diagnosis of the syndrome. High resolution G-banding, high resolution cytogenetic methylation-specific PCR (MS-PCR), and fluorescence in situ hybridization (FISH) are routinely used to diagnose PWS. In this study, four Chinese patients, with typical PWS features, were detected by MS-PCR and FISH. Three were cytogenetically normal, but lacked paternal expression of proximal chromosome 15q because of maternal uniparental disomy (UPD). The other one, however, demonstrated an unbalanced de novo translocation 46, XX, t (7; 15).
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PMID:Clinical and genetic analysis for four Chinese families with Prader-Willi syndrome. 1942 99

Feeding problems are frequently observed among the population of infants and small children. This problems include food refusal, overeating, selective eating and bizarre food habits. That problems might be transient, but they may last for many years among some of children. They could lead to poor weight gain, specific nutritional deficiencies and even failure to thrive. In ICD-10 classification two diagnostic categories regarding eating disorders during this life period have been proposed (Eating disorders and Pica of infancy and early childhood). That criteria are too general though, they don't tell much about etiology and they don't allow to make decision about using specific therapy for the disorder as well. The author presents American authors' propositions regarding more specific categories of feeding problems differentiation in this particular age group and presents casuistic descriptions.
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PMID:[Eating disorders of infancy and early childhood]. 1948 68


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