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

Four adolescents or young adults with the Prader-Willi syndrome (hypotonia, mental retardation, hypogonadism and obesity) received a protein-sparing modified fast consisting of 1.5 g of meat protein per kilogram of ideal body weight and meeting vitamin, mineral and fluid requirements. Evaluation of nitrogen and energy metabolism revealed the development of starvation ketosis and a positive nitrogen balance. Serial whole-body potassium measurements in two patients confirmed preservation of lean tissue despite continuing loss of weight. Clinical diabetes mellitus in two subjects was rapidly ameliorated by the regimen. Short-term weight loss greater than 18 kg occurred in three of the four subjects, and reduced weight persisted during observation periods of 26 to 44 months. This degree of outpatient diet adherence by mentally deficient subjects, who do not normally experience satiety, suggests that hunger is eliminated or at least reduced by modified, protein-sparing fasting.
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PMID:Metabolic aspects of a protein-sparing modified fast in the dietary management of Prader-Willi obesity. 84 Feb 78

The authors report on a 1-year old girl who presented with transient hypotonia and polydipsia related to renal-concentrating defect. Renal magnesium and calcium wasting were noted when the subject was 3.5 years old, in association with distal tubular acidosis and nephrocalcinosis. Hypocalcemia and hypomagnesiemia persisted when the patient was 9.5 years old. About 50 cases of tubular defects with renal magnesium loss have been reported in the literature and show that magnesium loss may be either isolated or associated with potassium and/or calcium wasting. This hereditary defect may be due to an alteration in magnesium reabsorption in the thick ascending limb of the loop of Henle.
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PMID:[Congenital tubulopathy with magnesium loss]. 133 69

A case report of 3-ketothiolase deficiency due to a defect of mitochondrial acetoacetyl-CoA thiolase protein in a Brazilian boy and its biochemical investigation is presented. The child had moderate generalized hypotonia, EEG alterations and crises of metabolic acidosis following infections. Hypotonia and EEG abnormalities disappeared with a low protein diet, and physical and mental development are normal. Urinary organic acid excretion was typical of 3-ketothiolase deficiency, showing consistently high levels of 2-methyl-3-hydroxybutyric acid and tiglylglycine. Activation of acetoacetyl-CoA thiolase activity by potassium (K) ion in cultured fibroblasts was not observed, demonstrating the lack of activity of mitochondrial acetoacetyl-CoA thiolase. In addition, the signal for the mitochondrial acetoacetyl-CoA thiolase protein was undetectable in the immunoblot analysis. In the pulse-chase experiments, the signal for mitochondrial acetoacetyl-CoA thiolase was detected after a 1-h pulse but not after a 24-h chase. These results indicate that the deficiency was caused by an unstable mitochondrial acetoacetyl-CoA thiolase protein.
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PMID:Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase. 134 18

Clinical, histological and electrophysiological studies were performed on rabbits with acute experimental allergic encephalomyelitis (EAE). The clinical features were similar to those previously described, with the notable exception of the new findings of areflexia, respiratory slowing and hypothermia. The histological findings were also similar to those previously reported, with inflammatory demyelinating lesions both in the central and peripheral nervous system, especially the dorsal root ganglia. Electrophysiological studies performed one to nine days after the onset of neurological signs demonstrated conduction block in a high proportion of the large diameter afferents in the lumbosacral and thoracic dorsal root ganglia. Single fibre studies with spike-triggered averaging confirmed the conduction block in the dorsal root ganglia. That the conduction block was due to demyelination was indicated by slowing of conduction in large diameter fibres, normal conduction in unmyelinated fibres and the specific effects of temperature and of the potassium channel blocking agent, 4-aminopyridine. These conduction abnormalities in the peripheral nervous system, focused on the dorsal root ganglia, account for the postural disturbance, hypotonia, ataxia and areflexia in rabbits with EAE. Such conduction block is likely to mask the expression of any lesions of the central nervous system that alone could produce similar signs. The implications of these findings for the human demyelinating diseases are discussed.
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PMID:The pathophysiology of acute experimental allergic encephalomyelitis in the rabbit. 608 51

Clostridium botulinum can colonize and produce botulinal toxin in the human infant intestine, which the toxin then permeates to cause generalized flaccid paralysis, and occasionally, sudden death. This study was undertaken to test the hypothesis that toxins produced by other intestinal clostridia, e.g., C. difficile, might also cause systemic illness and sometimes death in infants (J Pediatr 100:568, 1982). Because this hypothesis could not be evaluated clinically until the systemic manifestations of C. difficile toxins in primates were known, infant rhesus monkeys were given 6 to 11 micrograms/kg of the recently purified C. difficile toxins A or B, either intravenously or intraperitoneally. The animals showed no abnormalities for several hours, but then developed lethargy, hypotonia, hypothermia, and, shortly before death, sudden elevation of serum concentrations of potassium, magnesium, and phosphorus and of enzymes that derived mainly from skeletal muscle, heart and brain. Five of six animals died quietly 3.5 to 8.0 hours after onset of symptoms. Death appeared to result from cessation of breathing, after which the sinus tachycardia then deteriorated to a flat ECG. Necropsy findings were insufficient to explain the cause of death. It appears that in infant monkeys microgram amounts of C. difficile toxins A and B can produce a rapid quiet death, the cause of which is undetectable at necropsy, a situation pathologically reminiscent of crib death in human infants, although the possible clinical identity of these two conditions has yet to be established.
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PMID:Rapid death of infant rhesus monkeys injected with Clostridium difficile toxins A and B: physiologic and pathologic basis. 669 Jun 74

1. The effects of some alpha-adrenergic agonists and antagonists on electrically-evoked contractions and tension of chick expansor secundariorum muscle (ESM), and dependence of these events on extracellular calcium was investigated. 2. Both train and continuous electrical stimulation can produce regular contractions in preparations obtained from 40-60 day old chicks. 3. Clonidine had a biphasic action on the contractions produced by train electrical stimulation. In concentrations ranging from 10(-8) to 3 x 10(-7) M, clonidine decreased the contraction amplitude, but in higher concentrations, it caused an increase in both the muscle tension and the contraction amplitude. These effects were reversed by application of yohimbine although yohimbine by itself had no effect on the contractions. 4. Introduction of calcium free isotonic high potassium medium decreased muscle tone which was followed by further dose-dependent increase in tension, along with the addition of cumulative doses of CaCl2 (ED50 = 2.8 x 10(-3) M). 5. Nifedipine reduced the amplitude of ESM contractions produced by continuous electrical stimulation in a dose dependent manner (IC50 = 6.7 x 10(-7) M). 6. Methoxamine induced a completely dose dependent increase in muscle tension which was dependent on extracellular calcium and was inhibited by nifedipine. In the presence of 10(-8) M nifedipine, ED50 of methoxamine stimulatory effect increased from the control value of 2.2 x 10(-7) to 8.4 x 10(-7) M).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The role of calcium and alpha-adrenoceptors in contractile response of chick expansor secundariorum muscle to field stimulation. 751 4

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.
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PMID:Impaired arterial reactivity following cytomegalovirus infection in the immunosuppressed rat. 890 36

The Down syndrome chromosome region-1 (DCR1) on subband q22.2 of chromosome 21 is thought to contain genes contributing to many features of the trisomy 21 phenotype, including dysmorphic features, hypotonia, and psychomotor delay. Isolation, mapping, and sequencing of trapped exons and captured cDNAs from cosmids of this region have revealed the presence of a gene (KCNJ15) encoding a potassium (K+) channel belonging to the family of inward rectifier K+ (Kir) channels. The amino acid sequence deduced from the 1125-bp open reading frame indicates that this gene is a member of the Kir4 subfamily; it has been named Kir4.2. It is expressed in kidney and lung during human development and in several adult tissues including kidney and brain. After Kir3.2 (GIRK2), Kir4.2 is the second K+ channel gene of this type described within the DCR1.
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PMID:A new inward rectifier potassium channel gene (KCNJ15) localized on chromosome 21 in the Down syndrome chromosome region 1 (DCR1). 929 42

A nine-month infant, weighing 9.8 kg, presented with hypotonia secondary to acute hypokalaemia (1.0 mmol/l). Muscle strength improved as the serum potassium was increased. Muscle strength was assessed by the pressure generated inside a saline-filled endotracheal tube cuff during a grasp reflex. Potassium concentration and hand grip strength were related using a sigmoidal Emax model. Zero effect was assumed when the potassium concentration was zero. The Emax, EC50 and Hill coefficient values were determined by non-linear regression using the MKMODEL program. Parameter estimates (SE) were EC50 1.79 (0.15) mmol/l, Hill coefficient 3.79 (0.92), Emax 114.4 (8.9) mmHg.
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PMID:Relationship of muscle strength to potassium concentration in a hypokalaemic infant. 935 66

Trisomy 16 (Ts16) mouse is considered an animal model of Down syndrome (human trisomy 21). Whole-cell patch-clamp was used to evaluate potassium and chloride currents of cultured tongue muscle cells from fetal Ts16 and diploid mice. No difference was found in membrane capacitance between the two groups. K(+) and Cl(-) currents were pharmacologically isolated. K(+) conductance was reduced by 31% in Ts16 cells (373 pS/pF) compared with diploid cells (539 pS/pF). Cl(-) conductance was 51% larger in Ts16 cells (103 pS/pF) compared with diploid cells (68 pS/pF). However kinetics for K(+) and Cl(-) currents did not differ between the cell types. An increase in Cl(-) conductance and a decrease in K(+) conductance in Ts16 muscle cells, if present in muscle of Down syndrome subjects, might account for the observed hypotonia in these subjects.
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PMID:Abnormal chloride and potassium conductances in cultured embryonic tongue muscle from trisomy 16 mouse. 1096 Jun 88


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