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991.
992.
Dinesh Rakheja Golder N. Wilson Beverly B. Rogers 《Pediatric and developmental pathology》2003,6(3):270-277
We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 +/- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint. 相似文献
993.
994.
James A. Schirillo 《Vision research》2009,49(15):2011-2025
Inhomogeneous surrounds can produce either asymmetrical or symmetrical increment/decrement induction by orienting T-junctions to selectively group a test patch with surrounding regions [Melfi, T., & Schirillo, J. (2000). T-junctions in inhomogeneous surrounds. Vision Research, 40, 3735-3741]. The current experiments aimed to determine where T-junctions are processed by presenting each eye with a different image so that T-junctions exist only in the fused percept. Only minor differences were found between retinal and cortical versus cortical-only conditions, indicating that T-junctions are processed cortically. 相似文献
995.
Louis Pobereskin 《Acta neurochirurgica》2007,149(8):835-835
996.
Lygia Stewart J. McLeod Griffiss Gary A. Jarvis Lawrence W. Way 《Journal of gastrointestinal surgery》2007,11(8):977-984
Objective Gallstone bacteria provide a reservoir for biliary infections. Slime production facilitates adherence, whereas β-glucuronidase
and phospholipase generate colonization surface. These factors facilitate gallstone formation, but their influence on infection
severity is unknown.
Methods Two hundred ninety-two patients were studied. Gallstones, bile, and blood (as applicable) were cultured. Bacteria were tested
for β-glucuronidase/phospholipase production and quantitative slime production. Infection severity was correlated with bacterial
factors.
Results Bacteria were present in 43% of cases, 13% with bacteremia. Severe infections correlated directly with β-glucuronidase/phospholipase
(55% with vs 13% without, P < 0.0001), but inversely with slime production (55 vs 8%, slime <75 or >75, P = 0.008). Low slime production and β-glucuronidase/phospholipase production were additive: Severe infections were present
in 76% with both, but 10% with either or none (P < 0.0001). β-Glucuronidase/phospholipase production facilitated bactibilia (86% with vs 62% without, P = 0.03). Slime production was 19 (±8) vs 50 (±10) for bacteria that did or did not cause bacteremia (P = 0.004). No bacteria with slime >75 demonstrated bacteremia.
Conclusions Bacteria-laden gallstones are biofilms whose characteristics influence illness severity. Factors creating colonization surface
(β-glucuronidase/phospholipase) facilitated bacteremia and severe infections; but abundant slime production, while facilitating
colonization, inhibited detachment and cholangiovenous reflux. This shows how properties of the gallstone biofilm determine
the severity of the associated illness.
Presented at the annual meeting of the Society for Surgery of the Alimentary Tract, held May 20–24, 2006 in Los Angeles, California. 相似文献
997.
Ioannis Alexiou Anastasios Germenis Athanasios Ziogas Katerina Theodoridou Lazaros I Sakkas 《BMC musculoskeletal disorders》2007,8(1):37
Background
Anti-cyclic citrullinated peptide (anti-CCP) antibodies have been of diagnostic value in Northern European Caucasian patients with rheumatoid arthritis (RA). In these populations, anti-CCP antibodies are associated with the HLA-DRB1 shared epitope. We assessed the diagnostic value of anti-CCP antibodies in Greek patients with RA where the HLA shared epitope was reported in a minority of patients. 相似文献998.
Background
Influenza and pneumococcal vaccination are recommended for a number of clinical risk groups including patients treated with major immunosuppressant disease modifying anti-rheumatic drugs. Such immunisation is not only safe but immunogenic in patients with rheumatic diseases. We sought to establish dual vaccination rates and significant influencing factors amongst our hospital rheumatology outpatients. 相似文献999.
Nobuhito Morota 《Child's nervous system》2007,23(9):1007-1014
Purpose The author describes the history of functional posterior rhizotomy (FPR), the surgical procedure currently used, and the results
together with its future perspective in Japan. The modern form of FPR was introduced to Japan in 1995, and the first surgery
was carried out in 1996. Despite initial resistance from orthopedic surgeons, the procedure has eventually gained wide recognition
in the country.
Materials and Methods The author has operated on 98 patients (60 boys and 38 girls, aged from 2 to 19 years old) by the end of 2006. Most patients
were mild to severely disabled children with spastic hypertonia because of cerebral palsy and other diseases. The surgical
procedure used is based on the Peacock’s procedure with some modification for the mildly disabled children whose spasticity
was predominantly the muscles of the ankle joint. Intraoperative neurophysiology was an indispensable tool for preserving
urogenital function and for judging which root/rootlet to be cut.
Results Seventeen to 83% of the root/rootlets were found to be abnormal and were cut, clearly correlating with the degree of disability.
However, there was a wide difference in the cutting rate, even in children with the same degree of disability. The result
of surgery in this group of patients was the same as in previously published data. Twenty out of 51 patients (39%) followed
for more than a year at the current institute showed improved locomotion after FPR. Thirty patients (59%) demonstrated suprasegmental
effects after FPR.
Conclusion The role of FPR will grow in importance as a treatment for spasticity in Japan in the future. 相似文献
1000.
Kuniaki Nakahara Satoru Shimizu Satoshi Utsuki Sachio Suzuki Hidehiro Oka Kiyotaka Fujii 《Child's nervous system》2007,23(8):863-865
Objects We evaluated whether the presence of lacunar skull deformity (LSD) with myelomeningocele is a predictive factor for subsequent
hydrocephalus development.
Materials and methods We reviewed the clinical and radiological records of 18 infants with myelomeningocele, divided the patients into groups with
(group A, n=9) and without (group B, n=9) ventriculomegaly at birth and assessed whether the presence of LSD was predictive of the necessity for ventriculoperitoneal
shunt (VPS) placement.
Results LSD was present in five group A patients. All nine group A patients underwent VPS placement. Among the group B patients, five
had LSD; they underwent VPS placement. A significantly higher proportion of those with ventricle enlargement or LSD at birth
required VPS placement (p=0.0001).
Conclusion Adding to the ventriculomegaly at birth, the presence of LSD alerts to the necessity to monitor these infants closely to determine
the necessity for VPS placement. 相似文献