Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We experienced general anesthesia of two patients with cerebral palsy presupposed to have difficulties in tracheal intubation by reason of scoliosis. Case 1 is a 26-year-old woman. Chest X-ray photography and respiratory sounds in both pulmonary areas indicated neither airway stricture nor respiratory distress, but severe scoliosis presupposed difficult tracheal intubation. However, under the impression of possible intubation obtained by preoperative laryngoscopy, orotracheal intubation was tried with rapid induction. Epiglottis deviation to the left noted upon developing larynx made the glottis direct invisible, but some compression of cricoid from outside barely succeeded in intubation. The fixation of the endotracheal tube found much difficulties in its proper positioning so as to make stethoscopy uniform in both pulmonary areas, but trial rotations of the tube both in various directions and at various depths barely managed to find a position of uniform stethoscopy in both pulmonary areas, in which position the tube was fixed as proper positioning. Anesthesia was performed by nitrous oxide.oxygen.halothane; peroperative hemodynamics remained stable and arterial blood gas analysis presented no problems. Case II is a 16-year-old man. Resting respiration presented stridor and chest X-ray photography indicated scoliosis and laryngeal stricture. Patient's lack in the degree of cooperation made laryngoscopy impossible. Thus, in view of a high possibility of difficult tracheal intubation, orotracheal intubation was tried under the control of spontaneous respiration. While the intubation was being carried out by means of a stylet without developing larynx, severe bronchostriction was palpable at the point when the tube barely passed through the glottis, making the intubation impossible. However, the tube barely managed to be inserted while rotating with the stylet being extracted. Anesthesia was carried out by nitrous oxide.oxygen.halothane; peroperative hemodynamics underwent no remarkable change and arterial blood gas analysis presented no problems.
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PMID:[Experiences in general anesthesia of patients with scoliosis presupposed to have difficulties in airway maintenance]. 215 5

An atypical case of hereditary motor and sensory neuropathy (HMSN) type 2 with cerebellar ataxia, hand tremor and bilateral recurrent nerve palsy was described. The patient was a 57-year-old man who complained of dyspnea, stridor , hoarseness during exercise and snored heavily during sleep since he was 20 years old. These symptoms and signs were slowly progressive. He had difficulty in breathing even at resting state when he was 54 years old and since then, he noticed muscle wasting of his hands and feet. Neurological examinations on admission revealed pes cavus, scoliosis, distal muscular atrophy in his four extremities, especially severe in bilateral lower limbs. Deep tendon reflexes were diffusely depressed. The fiberscopic examination demonstrated the limitation of bilateral vocal cord abduction and his tongue was slightly atrophic. Fine postural tremor was found in bilateral hands. Mild limb and truncal ataxias were also noted. Blood pCO2 level was elevated to 66% although FEV1.0% and vital capacity were within normal limits. Peripheral nerve conduction velocities were almost normal, though distal terminal latencies were slightly prolonged and amplitudes of evoked potentials were markedly decreased. The sural nerve biopsy studies revealed the chronic axonal or neuronal degeneration of both large and small myelinated fibers. From the clinical, electrophysiologic and histopathologic findings, the diagnosis of HMSN type 2 with bilateral recurrent nerve palsy and other atypical neurological findings was made. It is practically important to evaluate the presence or absence of vocal cord paralysis in the patients with HMSN from clinical viewpoints.
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PMID:[A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy]. 829 75

Pelizaeus Merzbacher disease (PMD) is an X-linked recessive disorder of the central nervous system myelination caused by mutations involving the proteolipid protein gene (PLP). Early nystagmus and developmental delay, progressive pyramidal, cerebellar and dystonic signs as well as white matter changes in brain MRI are typical for PMD. The PLP gene can be affected by two major types of mutations. A duplication of the whole PLP gene is the most common mutation and results usually in the milder classical phenotype, whereas point mutations in PLP gene often result in the rarer and more severe connatal form of PMD. The PLP protein is a higly conserved across species and is identical in human, mouse and rat. We describe a 13-year-old Czech boy with an early and severe developmental delay. His maternal uncle died at the age of one year and was also early and severely psychomotoricly retarded. The patient was the first child of healthy unrelated parents born after an uneventful pregnancy and delivery in 1988. Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks. White matter abnormalities, cortical and periventricular atrophy were detected by MRI at the age of 6 and 11 years, respectively. Despite these signs and results an accurate clinical diagnosis was unclear until the age of 11 years. Last neurological examination in 1999 showed no nystagmus anymore, but extremely dystrophic limbs, truncal deformation, due to severe scoliosis, tetraplegia with hyperreflexia in C5C7 and areflexia L2S2 and positive pyramidal signs. The boy had no visual or speech contact. DNA tests followed the clinical suspicion for PMD. At first, duplication of PLP gene was excluded by quantitative comparative PCR. Direct sequencing of PLP gene detected a novel mutation in exon 6, a missense mutation 725C-->A (Ala242Glu) in the patient and in his mother and later also in his maternal grandmother. The same codon, but to valine (Ala242Val) is mutated in jimpy(msd) mouse, which is the frequently used animal model for PMD. Prenatal diagnosis for the next pregnancy has been offered to the family. The patient died recently at the age of 13 years due to respiratory failure. Our results support the data on the importance of this conserved amino acid alanine at codon 242.
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PMID:A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. 1178 21

Myelomeningocele (MMC) a complex congenital spinal anomaly, results from neural tube defect during first 4 weeks of gestation. Medical records of 135 children who underwent excision and repair of MMC from January 2003 to December 2006 were analyzed, retrospectively. Data on associated illnesses, anesthetic management, perioperative complications, and outcome were recorded. The patient population consisted of older infants with unrepaired MMC. The average age of presentation was 1 year and 8 months. The commonest site of presentation was lumbar (39.3%). Leaking MMC was present in 19.3% of cases, most had associated electrolyte imbalance. Hydrocephalus was the commonest association (67.4%) followed by Chiari-II malformation (58.4%). Renal abnormality was present in 9% of cases and 24.4% of children had scoliosis. Two infants (1.5%) presented with inspiratory stridor. Intraoperative cardiac and respiratory problems were observed in 15.6% and 11.1%, of cases, respectively. Two children (1.5%) suffered cardiac arrest; both had associated Chiari-II malformation and hydrocephalus. Postoperative ventilation was required in 8.9% of children, primarily due to inadequate reversal from neuromuscular blockade. Infection, cerebrospinal fluid leak, and pseudomeningocele were common surgical complications. Improvement of motor, sensory, and sphincteric function was observed in 30.5%, 22.9%, and 14.1%, respectively. To conclude, surgical repair of MMC may at times pose life-threatening complications mostly because of associated anomalies. Children with associated Chiari malformation and/or hydrocephalus need special attention during perioperative period.
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PMID:Anesthetic concerns and perioperative complications in repair of myelomeningocele: a retrospective review of 135 cases. 1977 65