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

Between 1979 and 1991, spinal arachnoid cysts were found in 11 patients aged 19 months to 18 years (mean age 5 1/2 years). Of the 11 patients, six had a myelomeningocele and one diastematomyelia. The presenting symptoms included radicular pain (one patient), progressive weakness (three), increasing scoliosis (one), worsening spasticity (three), and recurrent urinary tract infections and progressive constipation (one). Two patients showed no symptoms from the spinal arachnoid cyst. The distribution of lesions was as follows: cervicomedullary (one patient), cervical (one), cervicothoracic (two), thoracic (four), lumbar (two), and sacral (one). Four of the 11 arachnoid cysts (all intradural) were located anterior to the spinal cord, three of which were in children with a myelomeningocele. Only two of the cysts were extradural; both were found in the lumbosacral region, and one was associated with diastematomyelia. Eight patients were treated with fenestration and/or resection of the cyst wall. Three patients with anterior cysts were treated with shunts, a cyst-to-pleural space shunt in two and a cyst-to-subarachnoid space shunt in one. All of the patients either improved or exhibited an arrest in the progression of their symptoms. Spinal arachnoid cysts are a treatable cause of progressive neurological deficits and, in this series, were frequently found in patients with neural tube defects.
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PMID:Spinal arachnoid cysts in the pediatric age group: an association with neural tube defects. 150 83

This is a report of a young girl who showed a recurrence of acute worsening and remission of neurological manifestations, with consistent MRI demonstration of transaxial septated syrinxes in the cervical and the lumbar spinal cord in addition to a tight filum terminale. This 8 year-old girl had developed normally since her birth until August 1989 when she developed a gait disturbance. This worsened acutely on January 1, 1990, with the additional manifestation of a urinary bladder disturbance. General examination failed to show any abnormality or scoliosis. Neurologic examination revealed a monoparesis of the right lower extremity with muscle atrophy and pyramidal tract sign. Fecal constipation and urinary retention were noted. The MRI T1 weighted sagittal image demonstrated an incontinuous low intensity signal in the C1-C7 as well as in the T12-L2 without swelling of the cord. The axial image clearly demonstrated the septations in the syrinx which looked like eye glasses. No definite Gd enhancement was demonstrated. Chiari malformation was not associated, but the tethered cord was well identified. With the administration of steroid, she showed a marked improvement of neurological manifestations. She was able to urinate without difficulty and also walk by herself. For one month thereafter she remained well with minor neurological deficits until she developed a worsening of the gait disturbance with a newly manifested weakness of the left upper extremity. Sensory impairment was also demonstrated below L3. In contrast to the worsening of the clinical symptoms, no definite change in the abnormalities found by MRI was noted.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A septated syringomyelia with a dramatic clinical course in a young patient with MELAS; a case report]. 163 May 72

Experience over the past 10 years in the diagnosis and comprehensive management of females with Rett syndrome has given us a better understanding of the potential skills and abilities which need to be identified. This condition is unique in that after a period of early regression of development there appears to be stabilization with some improvement. The potential for these girls to achieve some functional skills and maintain them presents a challenge, but one that needs to be addressed. Medical management should include stabilization of uncontrolled seizures. Developing a comprehensive plan for feeding disorders is required so that resulting nutritional problems and constipation can be corrected. Recognition of gastroesophageal reflux and its proper management may prevent respiratory complications. Appropriate intervention strategies using different therapeutic techniques are described which have been effective in facilitating communication, maintaining hand function and ambulation, and preventing deformities. Progression of scoliosis can be managed with intensive physical therapy. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, which is best provided by a team in collaboration with community agencies that serve children with special needs and their families.
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PMID:Rett syndrome: habilitation and management reviewed. 945 32

Trichobezoars are masses of entangled material, found in the stomach and intestines, composed of hair ingested by the patient. When the mass grows, symptoms of intestinal occlusion can appear. Trichobezoars in pediatrics are usually found in adolescent females presenting personality disorders and trichophagia. This work describes a case of trichobezoar diagnosed in a 13 year-old girl, wearing a brace for serious scoliosis but absolutely normal from the emotional and psychical point of view, with normal scholastic and familiar situation. Already hospitalized three months before for pneumonia from mycoplasma, the girl comes to our observation for the appearance of vomiting and constipation. The clinical examination reveal an epigastric mass as big as an orange. General conditions and hematochemical tests are good. Lab tests are performed (abdomen echography and upper abdomen MNR) but is the oesophago-gastroscopy which allows the diagnosis. A big trichobezoar is then surgically removed and the gastroenteric symptoms completely disappear.
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PMID:[Obstructive syndrome caused by trichobezoars: historical disease or disease still current? Description of a case in adolescence]. 1126 31

Aicardi syndrome is an X-linked-dominant condition characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. We reviewed the Aicardi Syndrome Foundation's compilation of family-based, self-reported questionnaires for the year 2000. Information was obtained from 77 females with Aicardi syndrome regarding developmental milestones, seizure frequency, seizure classification, antiepileptic drug use, and medical problems. Patient ages ranged from 1 to 25 years (mean = 7.2 years). All patients were significantly developmentally delayed with milestones ranging from 2 to 36 months. Of the patients, 91% attained milestones no higher than 12 months. Seizures were reported in 92% of patients and occurred daily in 67%. Infantile spasms were the most common seizure type observed in 17%, although a variety of other seizure types were also reported. Multiple antiepileptic drugs were used in these patients with 73% of patients taking two or more antiepileptic drugs. Five patients had a vagal nerve stimulator implanted, and one patient underwent a hemispherectomy. The most common medical problems cited included scoliosis, constipation, gastroesophageal reflux, aspiration pneumonia, and otitis media, but overall health was perceived to be good. Our review demonstrates the spectrum of developmental disabilities, epilepsy severity, and prognosis in a large group of Aicardi patients.
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PMID:Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. 1250 1

During the planning stages of deinstitutionalization, the importance of nursing services must be recognized and given priority consideration in the community placement of persons with serious developmental disabilities. The objective of this study was to survey the medical and nursing profile of a group of nonambulatory, institutionalized individuals with profound mental retardation in anticipation of their nursing and medical needs in the community. Data were collected from the Individual Habilitation Plans of 55 individuals who had resided in a residential facility for individuals with mental retardation and were scheduled for community placement Serious medical problems in decreasing frequency were constipation (96%), seizure disorder (70%), poor dental hygiene (67%), cerebral palsy (62%), scoliosis (61%), contractions (41%), aspiration (44%), skin lesions (40%), and dysphagia (22%). Considering the complexity of health issues encountered in this population, adequate nursing and medical planning are critical to the wellness and successful community placement of a population with special needs.
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PMID:Survey of nursing and medical profile prior to deinstitutionalization of a population with profound mental retardation. 1258 97

The authors evaluated prospectively the efficacy and safety of continuous subcutaneous morphine administration for postoperative analgesia after posterior spinal fusion and instrumentation for idiopathic scoliosis. Thirty patients were given the subcutaneous morphine infusion (20 mg/day), and 20 patients were not given morphine (control group). Postoperative pain control was assessed using a verbal response score (VRS) and a visual analog pain scale (VAS). The number of times the patient requested supplemental analgesics was also evaluated. VRS and VAS measurements were significantly lower in the continuous subcutaneous morphine group compared with the control group. Also, analgesic consumption in the continuous subcutaneous morphine group was lower than that of the control group. There was no respiratory depression or constipation. Preemptive analgesia using continuous subcutaneous infusion of morphine is a simple, safe, and effective method to control postoperative pain after posterior instrumentation and spinal fusion for idiopathic scoliosis.
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PMID:Effects of preemptive analgesia using continuous subcutaneous morphine for postoperative pain in scoliosis surgery: a randomized study. 1530 11

Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.
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PMID:Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 1615 41

Percutaneous endoscopic gastrostomy (PEG) provides for enteral nutrition in children with feeding problems. PEG, however, is not without complications. The present study has a twofold aim: (1) comparing our incidence of major complications after PEG with the incidence in other centers, and (2) identifying risk factors for major complications. All patients receiving a PEG or laparoscopic-assisted PEG (lap PEG) in the period 1992-2008 were reviewed. Primary outcome was the occurrence of major complications, defined as the need for surgery, non-prophylactic antibiotics, or blood transfusion, and procedure-related death. Potential risk factors, eg, age under 1 year, mental retardation, scoliosis, constipation, hepatomegaly, upper abdominal surgery, ventriculoperitoneal shunt, peritoneal dialysis, esophageal stenosis, and coagulopathy, were analyzed. Of the 467 patients (448 PEG, 19 lap PEG), 12.6% developed major complications. The complication rate significantly decreased (P = 0.003) over the years. A significantly higher complication rate of 32% (P = 0.02) occurred in children with a ventriculoperitoneal shunt. None of the lap PEG procedures was associated with a major complication, but the difference was not significant, perhaps because of the small numbers in the latter group. The major complication rate after PEG in children is high. Preexisting ventriculoperitoneal shunt is a significant risk factor. Laparoscopically assisted PEG procedures seem to be associated with a lesser major complication rate.
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PMID:Percutaneous endoscopic gastrostomy (PEG) in children is not a minor procedure: risk factors for major complications. 1934 98

To understand scoliosis, related comorbidities, and phenotype-genotype correlations in individuals with Rett syndrome (RTT), the Rare Disease Clinical Research Network database for RTT was probed. Clinical evaluations included a detailed history and physical examination, comprehensive anthropometric measurements, and two quantitative measures of clinical status, Clinical Severity Scale (CSS) and motor-behavioral analysis (MBA). All data were exported to the Data Technology Coordinating Center (DTCC) at the University of South Florida. Scoliosis assessment was based on direct examination and curvature measurements by radiography (Cobb angle). Statistical analyses included univariate and multiple logistic regression models, adjusting for age at enrollment or mutation type. Scoliosis data were available from 554 classic RTT participants, mean age = 10 y (0-57 y). Scoliosis was noted in 292 (53%); mean age = 15 y with scoliosis and 6 y without. Using multiple regression analysis, MBA severity score, later acquisition, loss or absent walking, and constipation were associated with scoliosis. Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. These findings corroborated previous reports on scoliosis and extended understanding of comorbidities, clinical severity, and relative risk reduction for specific mutations. Clinical trial design should account for scoliosis and related factors judiciously.
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PMID:Profiling scoliosis in Rett syndrome. 2003 10


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