Prenatal screening for delta F508 mutation in population not selected for cystic fibrosis.
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Biomedical subjects
Publications and source records attributed to R Becker.
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Behavioral disturbance is a common and distinctive feature of Alzheimer's disease and other dementias. Existing instruments designed to quantify behavior disturbance among patients with dementia tend to be quite heterogeneous, including many items that do not refer to behavioral disturbance as such, but rather to cognitive, psychological, or somatic symptoms, or functional impairments. A 28-item Dementia Behavior Disturbance (DBD) scale was developed to avoid some of the problems encountered with the older instruments. In two samples of patients with dementia (n = 50 and n = 46), the most common symptoms were repetitive questions, losing or hiding things, lack of interest in daily activities, nocturnal wakefulness, unwarranted accusations, excessive daytime sleeping, and pacing. The coefficient of internal consistency was greater than .80 in both samples, and the correlation between scores obtained from the same subjects at a two-week interval was moderately high (Pearson's correlation coefficient = .71). There was a relatively high correlation between DBD scores and scores on Greene's Behavior and Mood Disturbance scale, and higher DBD scores were associated with increased duration and severity of disease. These preliminary results indicate that the DBD may be a useful and valid measure of one dimension of the dementia syndrome.
In a dynamic inhalation system, mice, rats and rabbits were exposed to bromobenzene vapour (250-3400 p.p.m.) for 4 hr. Blood concentrations of bromobenzene were determined by head-space gas chromatography. After inhalation of 1000 p.p.m. for 4 hr, concentrations of 153, 102 and 47 micrograms bromobenzene/ml blood were found in mice, rats and rabbits, respectively. In vitro experiments showed a blood/air partition coefficient at 37 degrees of approximately 200, which was reflected by a linear uptake of bromobenzene up to an air concentration of 2500 p.p.m. Compared with results obtained previously by intraperitoneal bromobenzene administration inhalation resulted in higher blood concentrations.
Cognitive therapy includes a variety of methods. There are two main schools, a currently predominant American one, and an earlier European one. They give different emphasis to the concept of the evolution of human cognition. There is agreement on the particular significance of surmounting absolutist thinking.
In a series of 153 women with intake of drugs during early pregnancy the pregnancy was terminated in 22% of all cases. There were the following results of the 119 non-terminated pregnancies: delivery of a normal, healthy baby: 84%; abortion: 5%; still birth and premature birth, respectively: 3,5%. An abnormal phenotype was seen in 7% of the newborns, but only 3 cases with major malformation (cleft lip, club-foot, cataract) could be noted. Compared with normal pregnancies the results do not confirm an enhanced risk for malformations by intake of drugs during early pregnancy. Unfounded anxiety of physicians as well as of pregnant women with indicated pharmacotherapy should be reduced by better information and education.
Posterior shoulder dislocation is a very rare injury, accounting for only 1-2% of all shoulder dislocations. It is very often misdiagnosed because its clinical symptoms are not characteristic and the X-ray pictures are often misinterpreted. In many cases this means delayed treatment and impaired shoulder function. The most common cause of posterior shoulder dislocation is an epileptic seizure. In approximately 50% of all cases a ventral impression fracture of the humeral head is diagnosed. This is known as the "reverse Hill-Sachs lesion". About 10% of all posterior shoulder dislocations are associated with fracture of the lesser tuberosity of the humerus. In this paper a case of bilateral posterior shoulder dislocation with bilateral fracture of the lesser tuberosity of the humerus is described. The luxations were caused by an epileptic seizure following chronic alcohol abuse. Following early commencement of an exercise programme excellent results were obtained, and no redislocations occurred.
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Hoe 065, a compound structurally related to inhibitors of angiotensin converting enzyme, caused a fall in the content of acetylcholine (ACh) in different brain areas of the rat following i.p. administration in the range 0.03-30 mg/kg. This effect occurred 0.5 h after a single injection and lasted for at least 6 h. Simultaneous administration of the choline uptake inhibitor hemicholinium-3 (HC-3) with Hoe 065 potentiated the decrease in ACh content induced by HC-3. In the same dose range Hoe 065 acutely enhanced the activity of the enzyme choline acetyltransferase as well as the capacity of the high-affinity choline uptake system which is considered as the rate-limiting step in the synthesis of ACh. Cholinesterase activity in vivo was not altered by the compound. Hoe 065 produced a concurrent elevation of brain cyclic GMP content. Taken together, these results suggest that Hoe 065 acutely increases cholinergic activity within its physiological range, probably by means of an enhanced release of ACh.
Radioimmunoscintigraphy (RIS) with 131I labeled OC-125 F(ab')2 monoclonal antibody fragments was prospectively studied in 43 women for primary diagnosis and follow up of ovarian cancer. Total body planar photoscans with a scintillation camera were performed one to seven days after antibody application and results were compared with operation and or CT examination. By the region of interest technique the tumor to non tumor tissue ratio (T/N) was calculated in vivo. Sensitivity in primary diagnosis was 100% (10/10), specificity 33% (1/3). For local recurrency, sensitivity was 86% (19/22), for metastatic loci 80% (17/21). Specificity was 75% and 50%. T/N ratio was in the rage from 1.3 to 2.8. Sensitivity for ovarian cancer is high in primary diagnosis and follow up. By the region of interest technique it is possible to detect small recurrencies and to presume peritoneal carcinosis. Antibody accumulations in diseases different from ovarian cancer however diminish specificity.
Nonsteroidal anti-inflammatory drugs (NSAID's) and other antirheumatic compounds such as disease modifying antirheumatic drugs (DMARD's), immunosuppressives and glucocorticoids were tested to determine if daily medication for two weeks could elevate subnormal levels of plasma iron in adjuvant-arthritic (AA) rats. Aspirin, indomethacin, ibuprofen and phenylbutazone were chosen as representative carboxylic acids and pyrazole NSAID's. Although NSAID's at all doses significantly reduced noninjected paw swelling, no NSAID significantly enhanced subnormal plasma iron levels in AA rats. In contrast, the standard DMARD's auranofin and gold sodium thiomalate, as well as the glucocorticoid, dexamethasone and the immunosuppressives, methotrexate and cyclosporin-A all significantly restored plasma iron levels 28 to 100 percent. Plasma iron depression, a parameter of the acute phase response probably under regulation by pro-inflammatory cytokines, is not reversed by NSAID treatment. This appears to be a useful method for distinguishing NSAID's from other anti-arthritic compounds.
In the years 1985-1987, 274 transcervical chorionic villi biopsy samples were taken at the Klinikum Steglitz Medical Center of the Free University of Berlin. We have information on the outcome of 264 pregnancies (96.3%). 229 cases (83.6%) yielded diagnostically usable results. Multiple biopsy samples were taken in 59 (21.5%) cases. Abnormal results were found in 14 patients. Pregnancy was terminated in 6 cases (2.2%) for proven chromosomal aberrations. In two others, spontaneous abortion occurred before the intended induced abortion. In 4 cases of mosaics, amniocentesis was performed subsequently in the 16th week of pregnancy; three of those pregnancies were carried to full term, and the children are healthy. In one case, we saw a spontaneous abortion in the 26th week of pregnancy. In two cases, we found balanced translocations. Miscarriage was observed in 16 CVS patients (5.8%). Abortion was febrile in two cases, septic in two others.
A retrospective case-control study within a cohort was carried out to identify factors associated with falling by patients in a rehabilitation hospital. The cohort comprised all patients admitted during a 2-year period from 1984 to 1986. Cases were those who fell one or more times during their hospitalization. For each case, one control matched on sex and date of admission, was chosen. Material from the first year of the cohort (201 cases and 201 controls) was used to define a model to estimate the risk of falling. Of the more than 100 variables considered in the conditional logistic regression models, stroke, incontinence, anticonvulsant medications, and topical eye preparations were significantly associated with the risk of falling. Analyses carried out on the second year of the cohort (155 cases and 155 controls) confirmed the predictive ability of these four variables. By combining the material from both subcohorts we were able to determine that a program to reduce falls directed towards stroke patients and incontinent patients alone could, theoretically, prevent 44% of first falls.
The destinations of stroke patients after discharge from acute-care hospitals were studied to ascertain the current use of health care resources. The 1984-1985 acute-care hospital discharge listings for the province of Quebec were consulted to identify 3,045 adults of the Montreal area who were discharged, deceased or alive, with a primary or secondary diagnosis of stroke. The relation between the length of stay (i.e., the time to death or discharge to long-term care, rehabilitation, or home) and the explanatory variables (age, sex, neighborhood socioeconomic status, type of stroke, and university affiliation of the discharging hospital) was assessed using Cox's proportional hazards models. Older patients and those with hemorrhagic strokes had the highest risk of death. However, patients with hemorrhagic strokes were more likely to survive if admitted to a university teaching hospital. Older patients, those with nonhemorrhagic strokes, and those admitted to university teaching hospitals were more likely to be discharged to long-term care. A greater proportion of patients discharged to rehabilitation centers were young, lived in a high-socioeconomic-status neighborhood, and had suffered a nonhemorrhagic stroke. Patients had a significantly higher probability of going home if they were young, had had a nonhemorrhagic stroke, had been admitted to a university teaching hospital, or were male.
A cephalometric prediction tracing serves as a guideline for orthognathic surgery. Transfer of information from prediction tracings to cast simulation (model surgery) is part of treatment planning for surgical correction of dentofacial deformities. Articulated mounting with calibrated double split casts adds precision to the process and makes the final cast operation more effective. Systematic errors in the transfer of information are appraised critically.
The degree to which physical therapists correctly predicted motor and functional outcome for stroke patients was investigated. Therapists used an adapted form of the physical therapy portion of the Patient Evaluation Conference System (PECSc)--a 14-item assessment measured on an 8-point scale. At admission to a rehabilitation hospital, therapists performed initial assessments of seven motor and functional items on 204 patients and assigned goal scores; before discharge the patients were reevaluated and their final scores determined. The accuracy by which therapists correctly predicted the final score ranged from 53% to 67%; therapists were accurate to within one score for 80% to 83% of patients. The only determinant of accuracy was initial score; neither patient characteristics (age, side of lesion) nor staff experience were found to be associated with correctly predicting final score. Sensitivity and specificity of the goals for predicting independence were examined for three items: lying to sitting, ambulation, and stairs. The sensitivity of a goal of independence was high (96% to 100%), indicating that those patients who were independent at discharge were correctly identified by therapists at admission. The predictive value of a goal of dependence was also very high (91% to 100%), indicating that patients predicted to remain dependent did so. These results suggest that therapists' predictions could prove useful in screening patients for rehabilitation and in planning treatment strategies.
The following is a review of the present progress and future development in the experimental therapy of Alzheimer disease (AD). Four different approaches are considered, first a molecular genetic one, second neuropeptide delivery, third trophic factors administration and fourth a cholinergic approach. Advantages and disadvantages of presently applied therapeutical experiments are analyzed and discussed together with the author's own experience and results.
Ninety-one families of Alzheimer patients were studied to determine the proportion of familial cases, to obtain pedigrees for the analysis of the mode of inheritance, and to look for clinical differences between the familial and the nonfamilial cases. The diagnosis was confirmed by autopsy in 26 cases. Thirty-nine cases (43%) were familial, which is defined as more than one case in the family. Our interpretation of the pedigree data is that Alzheimer's disease is etiologically heterogeneous: it may be genetic or sporadic. In the familial type we think that the disease is inherited as an autosomal dominant, with a wide range of age of onset within a family. In one-third of these families the gene is not expressed until over age 70. No clinical differences were found between the familial and the sporadic groups.
The pharmacological and binding properties of the novel enantiomerically pure benzothiazinone (R)-(+)-3,4-dihydro-2-isopropyl-4-methyl-2-[2-[4-[4-[2-(3,4,5-tri- methoxyphenyl)-ethyl]-piperazinyl]-butoxyl-phenyl]-2H-1,4- benzothiazine-3-one dihydrochloride (HOE 166), are described. HOE 166 stereoselectively inhibited KCl-but not noradrenaline-induced contractions of guinea-pig pulmonary arteries, rabbit aorta, rat mesenteric artery preparations and k-strophantin-induced enhancement of guinea-pig papillary muscle contraction in a dose-dependent manner. KCl-induced smooth muscle contraction was inhibited by HOE 166 with IC50-values of approximately 70 nM (5-11 times less potent than nifedipine, 2-16 times more potent than verapamil), the respective S-(-)-enantiomer being approximately 10-fold less potent. HOE 166 decreased the upstroke velocity of the slow action potential in partially depolarized guinea-pig papillary muscle at similar concentrations than nifedipine. To investigate possible interactions with the calcium channel, HOE 166 and its S-(-)-enantiomer were characterized by radioligand binding studies in heart, brain and skeletal muscle transverse-tubule membranes. HOE 166 was a 4-15 times more potent inhibitor of reversible (+)-[3H]PN200-110, (-)-[3H]desmethoxyverapamil and d-cis [3H]diltiazem binding compared to its pharmacologically less active (S)-(-)-enantiomer, with IC50 values in the low nanomolar range. Extensive equilibrium and kinetic studies suggest that HOE 166 exerts its Ca2+-antagonistic effect by binding to a Ca2+-channel-associated drug receptor which is distinct from the 1,4-dihydropyridine, phenylalkylamine or benzothiazepine-selective domain. This HOE 166-selective site is, however, allosterically linked to the other sites of the Ca2+ antagonist receptor complex. We conclude that HOE 166 is a novel calcium antagonist.