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)

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
 ...
PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

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

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is caused by an incapacity of plasmatic hypotonia to inhibit antidiuretic hormone (ADH) secretion. This phenomenon leads to a water retention and an expanded extracellular fluid volume, and secondary to a dilution of plasmatic sodium and also to a renal loss of sodium. The SIADH is a relatively rare syndrome, which may occur in various circumstances: central nervous system diseases, cancers, infections... Sometimes, it may be observed as a drug-related side effect: carbamazepine, chlorpropamide, antidepressors, anticancer drugs are particularly involved.
 ...
PMID:[Drug-induced syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Review of literature]. 841 Jun 27

1. Cytomegalovirus (CMV) is a major pathogen in immunocompromised individuals and may participate in the pathogenesis of atherosclerosis in the general population. We evaluated whether CMV-infection alters the function of arterial smooth muscle. 2. Blood pressure (BP) and arterial reactivity were recorded in immunosuppressed rats that had been infected with CMV (10(5) plaque forming units i.p.). Furthermore, the reactivity of isolated arteries was compared between CMV-infected rats and rats injected with bacterial endotoxin (LPS). 3. Initially resting BP and heart rate (HR) were not modified in CMV-infected rats, but baroreflex control of HR was impaired. By the eighth day post-CMV, BP dropped precipitously and could no longer be raised by phenylephrine (PHE). 4. In mesenteric resistance arteries, isolated at this stage from CMV-infected rats, contractile responses to nerve stimulation, noradrenaline, PHE and 5-hydroxytryptamine (5-HT) were virtually absent while those to high potassium and vasopressin (AVP) were not modified. In aortae of CMV-infected rats, responses to 5-HT and AVP were impaired while those to PHE or potassium were hardly affected. Reduced contractile responses could not be restored by NG-nitro-L-arginine methyl ester (L-NAME). 5. Continuous treatment of CMV-infected rats with prazosin (0.1 mg kg-1 day-1) prevented blood pressure lowering and resistance artery changes. 6. Observations in arteries of LPS-treated rats (5-10 mg kg-1, i.p.) differed markedly from those in vessels of CMV-infected animals. The contractile reactivity of their mesenteric resistance arteries was not altered while in their aortae, responses to PHE, 5-HT and AVP were reduced. With the exception of the AVP responses, this was more pronounced in the presence of 1-arginine and reversed by L-NAME. 7. These findings indicate that CMV-infection results in a reduction of resistance artery reactivity and hypotonia. This seems not to involve cytokine-mediated induction of NO synthase in the vascular wall but may be due to alterations of excitation-contraction coupling in arterial smooth muscle in response to increased sympathetic nervous input.
 ...
PMID:Impaired arterial reactivity following cytomegalovirus infection in the immunosuppressed rat. 890 36

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

A 17-month-old infant presented with a 2-week history of lethargy, anorexia, and an abnormal respiratory pattern on a previous 4-month history of hypotonia and gross motor delay, suggesting a clinical phenotype of Leigh syndrome. The patient experienced no epileptic seizures. Biochemical investigations were normal other than showing evidence of inappropriate secretion of antidiuretic hormone, and cerebral magnetic resonance imaging (MRI) showed symmetrical lesions in the cervical cord and lower brain stem. Initial screening investigations for a mitochondrial cytopathy were negative. Muscle histochemistry demonstrated reduced staining of cytochrome c oxidase but no ragged red fibers. Blood and muscle-derived DNA demonstrated a high level (92% and 82%, respectively) of the m.8344A>G mutation seen in patients with the mitochondrial cytopathy, ''myoclonic epilepsy with ragged red fibers on muscle biopsy.'' This infant's early presentation including inappropriate antidiuretic secretion due to presumed renal salt loss and rapid course appears to be unique to this mutation.
 ...
PMID:A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation. 2033 85