Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. 785 23

Synthetic 1-deamino-8-D-arginine-vasopressin (DDAVP) is used in the management of diabetes insipidus (DI). We conducted a systematic literature review of DDAVP use during pregnancy, with particular attention to its safety for both mother and infant. Studies were identified through Ovid MEDLINE from 1976 to July 1997 using the combined terms "desmopressin," "DDAVP," and "pregnancy". Review articles and published letters were also explored. One hundred one articles were retrieved, of which 20 met all the inclusion criteria. Included in the 20 articles were 53 cases with the use of DDAVP for the management of DI. The therapeutic daily dose of DDAVP was approximately 29 micrograms intranasally (range 7.5-100 micrograms), with adequate DI control observed. Three of 14 women with sufficient information developed preeclampsia, a nonsignificant difference from the expected rate of 5 percent (the Fisher exact test, 2-P = .08). The mode of delivery was defined for 22 cases, with 16 uneventful vaginal births, and six cesarean delivery. There was no evidence of a drug interaction among the five women who received both DDAVP and intravenous oxytocin. Information was available on 49 live births born to DI mothers on DDAVP. The mean gestational age at delivery was 37.4 weeks (SD 1.3 weeks), with an estimated mean birth weight of 2963.8 gm (range 2000-4420 gm). Forty-three offspring were reported as healthy (event rate 87.8 percent; 95 percent CI 77.2-95.3 percent). Of the remaining six infants, one developed DI at 18 months of age; a second was under 2500 gm at birth, but survived; the third developed hypotonia and failure to thrive at 21 months, two others had Down syndrome; and the sixth died of severe cardiac anomalies. Similar data were seen among the 41 infants whose mothers had used DDAVP throughout pregnancy. In conclusion, DDAVP use during pregnancy seems to be safe for both mother and child. Delivery does not seem to be augmented by its use, nor are there likely any associated adverse neonatal effects. A large database of DDAVP use during pregnancy is needed to confirm these findings.
 ...
PMID:DDAVP use during pregnancy: an analysis of its safety for mother and child. 966 31

Congenital panhypopituitarism is a rare disease. It may be a complication of tumors, craniocerebral trauma, infection, granulomatous diseases, vascular pathologies, etc. In many cases no primary disease causing panhypopituitarism is found (idiopathic form). A potential reason is interruption of the pituitary stalk due to ischemic etiology in patients with cord encirclement and/or other birth injuries leading to interruption of the axonal transport of ADH and oxytocin as well as hypothalamic releasing hormones. This explains the ectopy of the neurohypophysis without diabetes insipidus and the hypoplasia of the adenohypophysis. GH-deficiency causes short stature and metabolic disturbances, LH-FSH-deficiency amenorrhoea/oligomenorrhoea, loss of libido and secondary sexual characteristics, TRH-deficiency hypothyroidism and ACTH-deficiency hypotonia, weakness, loss of pigmentation. We report a case of congenital panhypopituitarism. MR imaging of the brain revealed a hypoplastic adenohypophysis and a hypoplastic pituitary stalk which was interrupted in its superior segment. An ectopic neurohypophysis was found located in the area of the hypothalamus ("hypothalamic hot spot"). The ectopic neurohypophysis showed strong enhancement after intravenous application of Gd-DTPA. MR imaging of the hypothalamic-hypophyseal axis is well suited for the differentiation between congenital and acquired forms of panhypopituitarism in clinically uncertain cases.
 ...
PMID:[Neuro-MR-findings in primary panhypopituitarism]. 979 7

We performed a prospective randomized study to compare maternal and fetal outcomes in pregnancies with prelabour rupture of the membranes (PROM) at term with early induction of labour or expectant management, 126 women with singleton pregnancy, cephalic presentation and gestational duration > or = 37 weeks, were randomized either to immediate induction of labour with oxytocin (Group 1) (n=52), or conservative management (Group 2) (n=74). Women who constituted Group 2 were divided into 2 groups. The first group (Group 2A) (n=25) included women in whom spontaneous labour did not begin after a waiting period of 24 hours, in which case labour was induced with oxytocin i.e. expectant management. The second group consisted of women (Group 2B) (n=49) in whom labour began spontaneously within 24 hours. The base Caesarean section rate was significantly higher in Group 2 (28.4%) (p<0.05). The rates of Caesarean section in the Groups 1-2A-2B were 19.2%, 60%, and 12.2%, respectively for nulliparous and parous women together. The rate of fetal distress was significantly higher in Group 2 (p<0.05). For determining maternal outcomes, the other parameters such as clinical chorioamnionitis, fever before or during labour, receiving antibiotics before or during labour, postpartum fever, analgesia, anaesthesia did not differ in Groups 1 and 2. Women in Group 1 went into active labour sooner, had fewer digital vaginal examinations, had a shorter interval between membrane rupture and delivery, and spent less time in the hospital before delivery than those in Group 2 (p<0.05). Babies in Group 2 were more likely to receive antibiotics, and more likely to stay in an intensive care nursery for more than 24 hours, and more likely to receive ventilation after initial resuscitation than those babies in Group 1. For developing apnoea and hypotonia, there was no significant difference between Groups 1 and 2. However, for babies in Group 2A there was a significant difference. We conclude that immediate induction of labour with oxytocin does not increase the risk of Caesarean section, compared with a practice of expectant management. Women at term with prelabour rupture of the membranes should therefore be reassured that immediate induction with oxytocin currently appears to be the best policy with respect to maternal and neonatal morbidity.
 ...
PMID:Prelabour rupture of the membranes at term--no advantage of delaying induction for 24 hours. 1055 36

Prader-Willi syndrome (PWS) is a genetic disorder characterized by mild mental retardation, short stature, abnormal body composition, muscular hypotonia and distinctive behavioural features. Excessive eating causes progressive obesity with increased cardiovascular morbidity and mortality. In the PWS genotype loss of one or more normally active paternal genes in region q11-13 on chromosome 15 is seen. It is supposed that the genetic alteration leads to dysfunction of several hypothalamic centres and growth hormone (GH) deficiency (GHD) is common. PWS is well described in children, in whom GH treatment improves body composition, linear growth, physical strength and agility. Few studies have focused on adults. We examined a cohort of 19 young adults with clinical PWS (13 with positive genotype) and mean BMI of 35 kg/m2. At baseline the activity of the GH-insulin-like growth factor-I (IGF-I) system was impaired with low GH values, low total IGF-I and in relation to the obesity low levels of free IGF-I and non-suppressed IGF-binding-protein-1 (IGFBP-1). 2/3 were hypogonadal. Bone mineral density (BMD) was low. Four patients had impaired glucose tolerance and nine patients high homeostasis model assessment (HOMA) index, indicating insulin resistance. Seven patients had a moderate dyslipidemia. The 13 patients with the PWS genotype were shorter and had significantly lower IGF-I. Seventeen (9 men and 8 women), subsequently completed a 12 months GH treatment trial, and GH had beneficial effects on body composition without significant adverse effects. The effects were more pronounced in the patients with the PWS genotype. Analysis of peptides involved in appetite regulation showed that leptin levels were high reflecting obesity and as a consequence NPY levels were low. In relation to the patients obesity circulating oxytocin levels were abnormally low and ghrelin levels abnormally high. Thus, oxytocin and ghrelin might be involved in the hyperphagia. NPY, leptin and ghrelin did not change during GH treatment. In conclusion this pilot study showed that adults with PWS have a partial GH deficiency, and GH treatment has beneficial effects on body composition in adult PWS without significant side-effects. Larger and longer term studies on the effect of GH replacement in adult PWS are encouraged.
 ...
PMID:Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. 1470 May 52

Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes. Of the 64 individuals with PWS, fetal movements were decreased in 82.8%, 31.7% were born prematurely, 42.1% by Cesarean section, and 35.9% required oxytocin induction. Apgar scores were low in 34.6%, 96.8% had feeding difficulty, 50% needed tube feeding, and 6.2% subsequently had gastrostomy tube placement. On comparing findings in the deletion versus the UPD groups, we did not find many significant differences. We, however, found a higher maternal age, and also later age at diagnosis in the UPD versus the deletion group. PWS subjects have higher rates of perinatal complications, especially Cesarean section rate, hypotonia, and low Apgar scores compared to the general population. We did not find many differences between the genetic subtypes, except for later age of diagnosis of the UPD 15 group suggesting a milder phenotype. We also found that the mothers in the UPD were older, supporting the hypothesis that UPD results from nondisjunction associated trisomy rescue.
 ...
PMID:Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. 2968 Nov 3