Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.
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PMID:Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution. 91 39

Factors favoring development of the crankshaft phenomenon after posterior spinal fusion include immaturity and large residual deformity. Eight patients at high risk to develop the crankshaft phenomenon underwent periapical anterior growth arrest and fusion before posterior instrumentation and fusion. With follow-up to skeletal maturity, 0% developed crankshaft phenomenon. Anterior growth arrest and fusion before a posterior procedure is recommended in scoliosis patients at high risk to develop the crankshaft phenomenon.
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PMID:Prevention of the crankshaft phenomenon. 178 96

The authors report their preliminary experience with the Charleston bending brace for the treatment of adolescent idiopathic scoliosis. This brace holds the patient in the position of maximum side bend correction and is worn only at night. Patients in this prospective multicentered study met all the following criteria: skeletal immaturity (Risser 0, 1+, or 2+), curvature greater than 25 degrees before bracing, no prior treatment, and greater than 1-year follow-up since initiation of treatment. There were 191 structural curves in the 139 patients. One hundred fifteen patients (83%) showed improvement or less than 5 degree change in curvature. Twenty-four patients (17%) demonstrated an increase in curvature greater than 5 degrees. Based on these preliminary results, continued use of bending brace treatment at nighttime only is justified for adolescent idiopathic scoliosis. Patients with double curves should be observed closely for increase in compensatory curves.
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PMID:Nighttime bracing for adolescent idiopathic scoliosis with the Charleston bending brace. Preliminary report. 228 73

Nonoperative treatment protocols in adolescent scoliosis require that growth is still occurring. The open iliac apophyses and vertebral ring apophyses are usually considered evidence that growth remains. Studies of adolescent skeletons are not consistent with this view, and one such example is presented. Of clinical importance is that determinant of immaturity should be based on the secondary sexual characteristics, not roentgenographic shadows.
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PMID:Pitfalls in the assessment of skeletal immaturity: an anthropologic case study. 686 29

The variability in measurement of angles in congenital scoliosis is not known, but it is postulated that it is larger than that in adolescent idiopathic scoliosis due to skeletal immaturity, incomplete ossification, and anomalous development of the end-vertebrae. To determine this variability, we selected 54 radiographs of adequate quality showing 67 scoliotic curves from children with congenital scoliosis. The end-vertebrae were preselected. Each curve was measured by the Cobb method on two separate occasions by six different observers, using the same goniometer and marker. The intraobserver variability was +/- 9.6 degrees and the interobserver variability +/- 11.8 degrees. If 'significant progression' is to be used as a criterion for surgical fusion in congenital scoliosis, there should be at least a 23 degrees increase, the entire range of the interobserver variability, in the curvature to ensure that the perceived increase is not due to variability in measurement.
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PMID:Variability in Cobb angle measurements in children with congenital scoliosis. 1075 51

We report long-term experience with the Charleston Bending Brace for treatment of adolescent idiopathic scoliosis. This brace holds the patient in maximal side-bending correction and is worn at nighttime only. Patients included in this prospective multicenter study met all of the following criteria: skeletal immaturity (Risser 0, 1, or 2), curvature >25 degrees before bracing, no prior treatment, and >1-year follow-up since completion of bracing (skeletal maturity or progression to surgery). All curves were monitored and reported. There were 149 structural curves in 98 patients. Sixty-five (66%) patients showed improvement or <5 degrees change in curvature. Seventeen (17%) patients progressed to the point of requiring surgery for their scoliosis. Based on these long-term results and improvement of the natural history of adolescent idiopathic scoliosis, continued use of the Charleston Bending Brace is justified.
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PMID:Nighttime bracing for adolescent idiopathic scoliosis with the Charleston Bending Brace: long-term follow-up. 959 69

Adolescent idiopathic scoliosis is present in 2 to 4 percent of children between 10 and 16 years of age. It is defined as a lateral curvature of the spine greater than 10 degrees accompanied by vertebral rotation. It is thought to be a multigene dominant condition with variable phenotypic expression. Scoliosis can be identified by the Adam's forward bend test during physical examination. Severe pain, a left thoracic curve or an abnormal neurologic examination are red flags that point to a secondary cause for spinal deformity. Specialty consultation and magnetic resonance imaging are needed if red flags are present. Of adolescents diagnosed with scoliosis, only 10 percent have curves that progress and require medical intervention. The main risk factors for curve progression are a large curve magnitude, skeletal immaturity and female gender. The likelihood of curve progression can be estimated by measuring the curve magnitude using the Cobb method on radiographs and by assessing skeletal growth potential using Tanner staging and Risser grading.
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PMID:Adolescent idiopathic scoliosis: review and current concepts. 1145 35

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.
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PMID:Turner's syndrome mosaicism 45X/47XXX: an interesting natural history. 1176 52

The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arteriosclerosis characterize the syndrome. Skeletal compromise includes hypoplasia and dysplasia, persistent open fontanelles, severe osteolysis and pathological fractures. There are no intellectual deficits in patients with this syndrome, and intelligence is unaffected. The life span in progeria is shortened by early arteriosclerosis. In this case, we review the characteristics of the severe osteolytic compromise in distal arms and limbs and bone deformities in a case of an 8-year-old girl, who was admitted to our hospital with short stature and loss of hair. On examination, the child had the major clinical criteria for HGPS as well as severe alterations in osteogenesis, including craniofacial disproportion, short and sculptured nose, delayed dentition, severe scoliosis, clavicular deformity and asymmetrical and hypoplastic arms and legs. Generalized osteopenia and severe osteolytic compromise in distal extremities were found by X-ray examination. In summary, we report the case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints with a review of the current literature and a possible therapeutic approach.
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PMID:Severe bone changes in a case of Hutchinson-Gilford syndrome. 1238 48

Intraoperative transcranial motor evoked potential (MEP) monitoring may help prevent neurologic injury during spine surgery. This type of monitoring may be difficult in the pediatric population under general anesthesia. We retrospectively reviewed data from 56 children, aged 2 to 18 yr, who were to undergo surgical correction of idiopathic scoliosis with MEP monitoring. Under combined isoflurane-propofol general anesthesia, before incision, we examined the minimum stimulating threshold voltage required to achieve a 50-microvolt or greater MEP response amplitude. Younger age was associated with an increase in the threshold voltage needed to elicit a sufficient MEP response. In addition, younger age was associated with longer stimulating pulse trains and greater need to adjust stimulating scalp electrodes. Body surface area, height, weight, and body mass index were also significant factors, but they were not independent predictors, after adjusting for age. Younger children received significantly lower levels of isoflurane and comparable doses of propofol, compared with older patients. Stronger stimulation needed to produce MEP responses in younger patients may reflect immaturity of their central nervous system, specifically conduction by the descending corticospinal motor tracts. Greater attention must be given to optimizing physiologic variables, limiting depressant anesthetics, and selecting the most favorable stimulating conditions in children, especially those <10 yr old.
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PMID:The effect of age on motor evoked potentials in children under propofol/isoflurane anesthesia. 1686 11


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