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)

Severe, life-threatening toxicity may be caused by errors in chemotherapy administration. To contribute with some useful information on drug-induced toxic effects and salvage therapy, we report a case of vinblastine (VBL) overdose (25 mg/m(2)) in a 12-year-old child affected by an end-stage metastatic primitive neuroectodermal tumor. Early signs of toxicity were acute, severe musculoskeletal pain and fever. This was followed by intestinal hypotonia, severe esophagitis, and peripheral neuropathy. Two consecutive plasma exchange procedures were performed at 4 and 18 hr after the administration of the overdose of VBL. The overall toxicity this child experienced was much less severe than expected; this finding, in combination with the known pharmacokinectis data of VBL in children, made us hypothesize that plasma exchange might have had a role in lowering the side effects of drug over dosage.
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PMID:A case of vinblastine overdose managed with plasma exchange. 1560 12

A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly slowed brain activity. The patient was being treated with a low protein diet, phenobarbital, L-carnitine, L-isoleucine, and biotin. Surgery was carried out in satisfactory conditions with general anesthesia without opioids combined with infiltration of the surgical wound with local anesthetic. Recovery from anesthesia was rapid and free of complications. Propionic acidemia is caused by mitochondrial propionyl coenzyme carboxylase deficiency. Most patients have episodes of severe metabolic ketoacidosis as a result of excessive protein intake, delayed development, vomiting, gastroesophageal reflux, lethargy, hypotonia, and convulsions. The anesthetic approach involves avoiding triggers of metabolic acidosis (such as fasting, dehydration, hypoxemia, and hypotension) and preventing airway complications. Agents that metabolize propionic acid (such as succinylcholine, benzylisoquinoline neuromuscular blocking agents, and propofol) are not used, as they can exacerbate acidemia. We also believe that using local or regional anesthesia in combination with general anesthesia without opiates is safe and effective for controlling pain during surgery and postoperative recovery, as that combination avoids respiratory depression in these patients, who are highly sensitive to opiates.
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PMID:[Infant boy with propionic acidemia: anesthetic implications]. 1620 Sep 24

We present the clinical and laboratory features of a boy with a new syndrome of mitochondrial depletion syndrome and T cell immunodeficiency. The child suffered from severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo-occipital region with consecutive supratentorial hydrocephalus. Histologic examination of a skeletal muscle biopsy was normal. Biochemical investigation showed combined deficiency of respiratory chain complexes II+III and IV. MtDNA depletion was found by real-time PCR. No pathogenic mutations were identified in the TK2, SUCLA2, DGUOK, and ECGF1 genes. A heterozygous missense mutation was found in POLG1. The pathogenic relevance of this mutation is unclear. Interestingly, a lack of CD8(+) T lymphocytes as well as NK cells was also observed. The percentage of CD45RO-expressing cells was decreased in activated CD8(+) T lymphocytes. Activation of T lymphocytes via IL-2 was diminished. The occurrence of the immunologic deficiency in our patient with mtDNA depletion is a rare finding, implying that cells of the immune system might also be affected by mitochondrial disease.
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PMID:Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. 1685 57

This was a phase 1 investigation of an upper limb training program using the SaeboFlex dynamic orthosis to improve upper limb motor status. Thirteen individuals with chronic hemiparesis from stroke (age 26-71 years) participated. After being fitted with a SaeboFlex orthosis, each participant was engaged in 5 days of training (6 hours per day) that consisted of repetitive, task oriented activities with the SaeboFlex, exercises, and functional electrical stimulation. Individuals demonstrated improvements in movement at the shoulder and elbow. Wrist extension also improved, but wrist flexion and finger movement did not. Two more global measures of upper limb status improved. Muscle tone decreased. All participants remained pain free. This investigation demonstrates that a program using the orthosis was accompanied by many desirable changes and no untoward consequences.
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PMID:Orthotic aided training of the paretic upper limb in chronic stroke: results of a phase 1 trial. 1765 34

We report the successful management of anesthesia in a patient with stiff-person syndrome (SPS) undergoing a thymectomy using a volatile anesthetic combined with epidural anesthesia. The anesthetic concern in patients with SPS is the possibility of postoperative hypotonia due to the presence of excessive gamma-aminobutyric acid (GABA) resulting from an interaction between the anesthetic agents and preoperatively taken therapeutic drugs. Epidural anesthesia has the advantages of decreasing the required amount of anesthetics with GABAergic action, and relieving the postoperative pain that causes the symptoms of SPS. Epidural anesthesia could be a useful technique in SPS patients.
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PMID:Considerations for general anesthesia combined with epidural anesthesia in a patient with stiff-person syndrome. 1800 16

The aim of this randomized prospective and partially double-blind study was to evaluate the efficacy of transrectal lidocaine applied as suppositories in comparison to periprostatic infiltration as methods of reducing pain during transrectal prostate biopsy. 100 patients were randomized to four groups and received either a suppository containing 60 mg of lidocaine 2 h before biopsy, a 120-mg lidocaine suppository 1 h before biopsy, a 120-mg lidocaine suppository 2 h before biopsy, or they were anaesthetized with a periprostatic infiltration of 5 ml 2% lidocaine. In all patients the same 10-core transrectal biopsy technique was performed. Pain was evaluated using a visual pain scale ranging from 0 to 10 points. The mean pain score in the 60-mg (2 h), 120-mg (1 h), and 120-mg (2 h) lidocaine suppository groups was 3.63, 3.56, and 3.58 respectively. The mean pain score of patients receiving periprostatic infiltration was 1.80. No patient showed vegetative symptoms like sweating or hypotonia. No patient had severe pain. Eight of the 9 patients with no pain were in the periprostatic injection group. Thus, all lidocaine suppositories showed a good analgesic effect although a significantly better pain reduction was achieved by periprostatic lidocaine infiltration.
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PMID:Comparison of lidocaine suppositories and periprostatic nerve block during transrectal prostate biopsy. 1848 Jun 26

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with deletion 22q13 should have routine examinations by the primary care physician as well as genetic evaluations with referral to specialists if neurological, gastrointestinal, renal, or other systemic problems are suspected. Affected individuals benefit from early intervention programs, intense occupational and communication therapies, adaptive exercise and sport programs, and other therapies to strengthen their muscles and increase their communication skills. No apparent life-threatening organic abnormalities accompany the diagnosis of deletion 22q13.
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PMID:Deletion 22q13.3 syndrome. 1850 57

A 33-year-old man developed diffuse subarachnoid haemorrhage following attempted radiofrequency ablation for trigeminal neuralgia. Over the next 2 weeks, he progressively developed multiple bilateral cranial nerve palsies, bilateral cerebellar signs, hypotonia of all four limbs and diminished vision in both eyes. A visual-evoked potential study revealed anterior visual pathway defect. A possibility of demyelination was considered and he was treated with corticosteroids. His neurological deficits improved gradually over the next 4 months. He later underwent microvascular decompression uneventfully with good pain relief. This complication has not been reported earlier and needs to be kept in mind while performing radiofrequency ablation.
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PMID:Multiple cranial nerve palsies following radiofrequency ablation for trigeminal neuralgia. 1866 14

The French Indian Ocean island Mayotte was hit by an outbreak of chikungunya in January 2005. The purpose of this retrospective study is to report data recorded over a five-month period (February - June 2006) in the pediatric-neonatal department of the Hospital Center in Mayotte. The study cohort includes a total of 50 children in whom chikungunya was confirmed by molecular tools. Mean age was 9.3 years and the male-to-female sex ratio was 1:5. The main symptoms were intense pain (88%), high fever (82%), and skin rash (80%) that was less common in children under 2 years of age. Neurological complications were observed in 46% of patients including hypotonia (22%) that occurred mainly in newborns, meningitis syndrome (18%) and convulsions (16%) that occurred mainly in children over 2 years of age. Infectious complications included pneumonia (4%), pyelonephritis (2%), and possible nosocomial septicemia due to Pseudomonas (6%). The main hematological abnormalities were lymphopenia (27%) and thrombopenia (16%). Serum CRP values were moderately high (mean, 25 mg/l). Elevated AST (24%) and ALT (10%) values were observed. High CSF protein levels were noted in 30% of cases. A total of 25 children required hospitalization for more than 10 days. There were two deaths in newborns infected before the seventh day of life. The main risk factors for hospitalization longer than 10 days were premature birth and age at the time of chikungunya infection.
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PMID:[Confirmed chikungunya in children in Mayotte. Description of 50 patients hospitalized from February to June 2006]. 1906 81

The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and neurologic disorders of childhood are characterized by congenital hypotonia. This muscle tone disorder is often one of the symptoms that a neurologist is asked to evaluate. Recent advances in genetic testing can help provide a specific diagnosis for children with this symptom. Subtelomeric deletions are a category of disorders of which hypotonia can be a prominent feature. Deletions of chromosome 22q13 are some of the most commonly observed terminal deletions in humans, whereas duplications of chromosome 2p25.2 are very rare, and little is known about the phenotypic effect of these duplications. To the best of the authors' knowledge, this association has never been described before.
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PMID:Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study. 2092 66


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