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)

Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to > 1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include "coarse face" in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. Important radiological signs included calcification of the falx cerebri in 65%, of the tentorium cerebelli in 20%, bridged sella in 68%, bifid ribs in 26%, hemivertebrae in 15%, fusion of the vertebral bodies in 10%, and flame shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands in 30%. Several traits previously considered components of the syndrome (including short fourth metacarpal, scoliosis, cervical ribs and spina bifida occulta) were not found to be significantly increased in the affected individuals. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management.
 ...
PMID:Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 909 61

OBJECTIVE Postoperative shoulder imbalance (PSI) is a critical consideration after corrective surgery for a double thoracic curve (Lenke Type 2); however, the radiographic factors related to PSI remain unclear. The purpose of this study was to identify the radiographic factors related to PSI after corrective surgery for adolescent idiopathic scoliosis (AIS) in patients with a double thoracic curve. METHODS This study included 80 patients with Lenke Type 2 AIS who underwent corrective surgery. Patients were grouped according to the presence [PSI(+)] or absence [PSI(-)] of shoulder imbalance at the final follow-up examination (differences of 20, 15, and 10 mm were used). Various radiographic parameters, including the Cobb angle of the proximal and middle thoracic curves (PTC and MTC), radiographic shoulder height (RSH), clavicle angle, T-1 tilt, trunk shift, and proximal and distal wedge angles (PWA and DWA), were assessed before and after surgery and compared between groups. RESULTS Overall, postoperative RSH decreased with time in the PSI(-) group but not in the PSI(+) group. Statistical analyses revealed that the preoperative Risser grade (p = 0.048), postoperative PWA (p = 0.028), and postoperative PTC/MTC ratio (p = 0.011) correlated with PSI. Presence of the adding-on phenomenon was also correlated with PSI, although this result was not statistically significant (p = 0.089). CONCLUSIONS Postoperative shoulder imbalance is common after corrective surgery for Lenke Type 2 AIS and correlates with a higher Risser grade, a larger postoperative PWA, and a higher postoperative PTC/MTC ratio. Presence of the distal adding-on phenomenon is associated with an increased PSI trend, although this result was not statistically significant. However, preoperative factors other than the Risser grade that affect the development of PSI were not identified by the study. Additional studies are required to reveal the risk factors for the development of PSI.
 ...
PMID:A retrospective study to reveal factors associated with postoperative shoulder imbalance in patients with adolescent idiopathic scoliosis with double thoracic curve. 2766 45