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21.
P. S. Karnes A. T. Shamban D. R. Olsen M. J. Fazio R. E. Falk 《American journal of medical genetics. Part A》1992,42(1):29-34
Several “progeroid” syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an “aged” appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the elastic fibers on biopsy, we performed elastin gene expression studies on fibroblasts cultured from our patient's skin. Molecular hybridization studies revealed reduced elastin mRNA steady-state levels as compared with age matched control individuals. Assuming normal rates of mRNA translation, reduced elastin synthesis would occur. Diminished dermal elastin content could explain the altered cutaneous elasticity, decreased elastic fibers in the skin, and many clinical manifestations of individuals with this condition. 相似文献
22.
An outbreak of hypervitaminosis D associated with the overfortification of milk from a home-delivery dairy. 总被引:3,自引:1,他引:2 下载免费PDF全文
OBJECTIVES. The purpose of the study was to identify cases of hypervitaminosis D caused by the inadvertent overfortification of milk from a home-delivery dairy and to identify risk factors for this illness. METHODS. Hospital discharge, laboratory, and state health department data were used to define, identify, and describe cases of hypervitaminosis D diagnosed in the exposed communities between January 1, 1985, and June 30, 1991. To identify disease risk factors, community-based sex- and age-matched controls were used in a case-control study. RESULTS. Of the 56 case patients identified, at least 41 were hospitalized; 2 died. The study included 33 case patients and 93 control subjects. Nineteen of the 33 case patients had been customers of the implicated dairy. Risk of illness rose with increasing consumption of the dairy's milk and was also associated with vitamin D supplement use, sunburn susceptibility, and cancer history. Accounting for these factors did not alter the association between drinking the dairy's milk and developing hypervitaminosis D. CONCLUSIONS. Overfortification of milk with vitamin D can lead to hypervitaminosis D, manifested by severe illness and death. The episode highlights the need for monitoring the fortification process and enforcing the upper limit for vitamin D addition to milk. 相似文献
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Daniel L. Rubin Karen L. Falk Malcolm J. Sperling Michael Ross Sanjay Saini Barry Rothman Frank Shellock Elias Zerhouni David Stark Eric K. Outwater Udo Schmiedl Louis C. Kirby Judith Chezmar Terry Coates Miles Chang Jeffery M. Silverman Neil Rofsky Keith Burnett Julie Engel Stuart W. Young 《Journal of magnetic resonance imaging : JMRI》1997,7(5):865-872
The purpose of this study was to assess the effectiveness and safety of Gadolite Oral Suspension as a gastrointestinal (GI) contrast agent for MRI in a phase II and two phase III multicenter clinical trials. Gadolite was administered to 306 patients with known or suspected abdominal and/or pelvic disease. MRI with T1- and T2-weighted sequences was performed before and after ingestion. Efficacy was evaluated by having two masked readers rate the certainty of their MR diagnosis (0 = uncertain, 1 = probable, 2 = definite) on randomly presented pre- and post-Gadolite Oral Suspension enhanced images. Principal investigators also evaluated the images and established the final diagnosis. Vital signs, clinical chemistries, and adverse events were documented. Blood and urine samples were analyzed for gadolinium content to determine whether Gadolite Oral Suspension was absorbed systemically. Certainty in MR diagnosis increased significantly (P < .001) for both blinded readers between pre- and post-Gadolite images (.49–1.18 for reader 1; .46–1.53 for reader 2). Sensitivity, specificity, and accuracy also increased for both masked readers. No gadolinium was detected in blood or urine samples. There were no serious adverse events and no apparent drug-related trends in mean vital signs or laboratory values. Gadolite is a highly effective, safe, and well tolerated contrast agent for clinical use with MRI. 相似文献
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New perspectives of avalanche disasters. Phase classification using pathophysiologic considerations]
This study comprises an analysis of the data on 332 persons totally buried by avalanches in Switzerland between 1981 and 1989. The survival rate was calculated with the aid of a computer-assisted estimation procedure according to Turnbull. The curve pattern was interpreted according to pathophysiological considerations, on the basis of which the time course of the battle for survival was divided into 4 phases: 1) Survival phase: until 15 minutes after burial under the snow masses. The survival probability amounts to 93% and is, thus, higher than so far assumed. Almost all those buried survived this period of the time provided they were not fatally injured and received first aid. 2) Asphyxia phase: duration of burial under the avalanche from 15 to 45 minutes. The probability of survival sank dramatically during this period from 93% to about 25% (fatal kink of the survival probability curve). Those buried under the snow without an air pocket die of acute asphyxia (the point of no return) and the mortality rate reaches its maximum in this phase. 3) Latent phase: the period as from 45 minutes following the avalanche until the time of rescue. This phase is survived only in the presence of an air pocket. With sufficient oxygen reserves and freedom of thoracic movement a "phase of relative safety" occurs, whereby the survival probability diminishes further only slowly. The first deaths due to hypothermia arise after 90 minutes. 4) Rescue phase: from the time of extrication from the snow until arrival in hospital. There is an increased risk of a fatal outcome during the rescue procedure and immediately afterwards through augmented hypothermia.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
28.
Flecainide-induced ventricular tachycardia and fibrillation in patients treated for atrial fibrillation 总被引:3,自引:0,他引:3
R H Falk 《Annals of internal medicine》1989,111(2):107-111
Flecainide acetate has a recognized proarrhythmic effect in patients treated for ventricular tachycardia. Three patients developed severe ventricular arrhythmias while taking flecainide for atrial fibrillation. Patient 1 had normal ventricular function and idiopathic atrial fibrillation. Treadmill exercise tests during digoxin therapy showed no ventricular arrhythmia; however, during flecainide therapy the patient developed ventricular flutter at his peak exercise level that required cardioversion. Patient 2 had normal ventricular function and a prosthetic mitral valve. During therapy with flecainide, 150 mg twice daily, he had an episode of sustained ventricular tachycardia, also at his peak exercise level. Patient 3 had paroxysmal atrial fibrillation and hypertrophic cardiomyopathy but no previous ventricular arrhythmia. She died suddenly within 10 days of starting flecainide therapy. Judged from previous findings none of these patients was considered at high risk for proarrhythmia. These cases suggest a possible relation between vigorous exercise, atrial fibrillation, and the proarrhythmic properties of flecainide and indicate the limitations of classifying patients as "high-risk" or "low-risk" for proarrhythmic complications of anti-arrhythmic therapy. 相似文献
29.
Aspehaug V Falk K Krossøy B Thevarajan J Sanders L Moore L Endresen C Biering E 《Virus research》2004,106(1):51-60
Infectious salmon anemia virus (ISAV) is the type species of the genus Isavirus belonging to the Orthomyxoviridae, and causes serious disease in Atlantic salmon (Salmo salar). This study presents the expression and functional analysis of the ISAV genome segment 3, and provides further evidence that it encodes the viral nucleoprotein (NP). The encoded protein was expressed in a baculovirus system, and Western blot analysis showed that it corresponds to the 66-71 kDa structural protein previously found in purified ISAV preparations. RNA-binding activity was established by the interaction of viral and recombinant NP with single-stranded RNA transcribed in vitro. Immunofluorescence studies of infected cells showed the ISAV NP to be an early protein. It locates to the nucleus of infected cells before it is transported to the cytoplasm prior to virus assembly. A similar localization pattern was observed in cells transfected with the NP gene, confirming that the encoded protein has an intrinsic ability to be imported into the nucleus. Two monopartite nuclear localization signals (NLS) at amino acids (230)RPKR(233) and (473)KPKK(476) were identified by computer analysis, and validated by site-directed mutagenesis. In contrast to other orthomyxovirus-NPs, that have several NLSs that function independent of each other, both NLSs had to be present for the ISAV NP protein to be transported into the nucleus, indicating that these motifs cooperate to target the protein to the nucleus. 相似文献
30.
Casas KA Mononen TK Mikail CN Hassed SJ Li S Mulvihill JJ Lin HJ Falk RE 《American journal of medical genetics. Part A》2004,(4):331-339
We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling. 相似文献