The characteristics of patients with possible familial hypercholesterolemia-screening a large payer/provider healthcare delivery system.

BACKGROUND: Familial hypercholesterolemia (FH) is an under-diagnosed condition. AIM: We applied standard laboratory criteria across a large longitudinal electronic medical record database to describe cross-sectional population with possible FH. METHODS: A cross-sectional study of Clalit Health Services members. Subjects who met the General Population MED-PED laboratory criteria, excluding: age <10 years, documentation of thyroid, liver, biliary or autoimmune diseases, a history of chronic kidney disease stage 3 or greater, the presence of urine protein >300 mg/l, HDL-C>80 mg/dl, active malignancy or pregnancy at the time of testing were considered possible FH. Demographic and clinical characteristics are described at time of diagnosis and at a single index date following diagnosis to estimate the burden on the healthcare system. The patient population is also compared to the general population. RESULTS: The study cohort included 12 494 subjects with out of over 4.5 million members of Clalit Health Services. The estimated prevalence of FH in Israel was found to be 1:285. These patients are notably positive for, and have a family history of, cardiovascular disease and risk factors. For most of them the LDL-C levels are not controlled, and only a quarter of them are medically treated. CONCLUSIONS: By using the modified MED-PED criteria in a large electronic database, patients with possible FH can be identified enabling early intervention and treatment.

Increased CSF F2-isoprostane concentration in probable AD.

OBJECTIVE: To quantify F2-isoprostane levels in CSF obtained from the lumbar cistern of patients with AD, ALS, and controls. BACKGROUND: Studies of human postmortem tissue and experimental models have suggested a role for oxidative damage in the pathogenesis of several neurodegenerative diseases, especially AD and ALS. F2-isoprostanes are exclusive products of free-radical-mediated peroxidation of arachidonic acid that have been widely used as quantitative biomarkers of lipid peroxidation in vivo in humans. Recently, we showed that F2-isoprostane concentrations are significantly elevated in CSF obtained postmortem from the lateral ventricles of patients with definite AD compared with controls. METHODS: F2-isoprostanes were quantified by gas chromatography/negative ion chemical ionization mass spectrometry. RESULTS: CSF F2-isoprostanes were increased significantly in patients with probable AD, but not in ALS patients, compared with controls. CONCLUSIONS: Increased CSF F2-isoprostanes are not an inevitable consequence of neurodegeneration and suggest that increased brain oxidative damage may occur early in the course of AD.

Clinical, neurophysiological, biochemical and morphological features of eyes in Persian cats with mannosidosis.

The clinical, neurophysiological, morphological and biochemical manifestation of eyes from Persian kittens affected with alpha-mannosidosis were studied. Clinically the disease is characterized by progressive corneal and lenticular opacification. In addition there is asymmetry in shape and latency of signal conductions which were demonstrated by visual evoked potential studies. Morphological and histochemical studies revealed vacuolization of various ocular cell types which stained positively with Concanavalia ensiformis agglutinin (Con A) and wheat germ agglutinin (WGA). Biochemical studies illustrated low activity of acid alpha-mannosidase in cultured keratocytes and abnormal storage of partially degraded oligosaccharides in these cells, in vitreous humor and lens. This comprehensive study of ocular alpha-mannosidosis demonstrates enzyme deficiency which leads to abnormal storage of oligosaccharides in affected cells and is manifested by morphological alterations and functional impairment.

Ketoconazole therapy in a dog with systemic cryptococcosis.

A 2-year-old dog had bilateral chorioretinitis and a cough. Systemic cryptococcosis was diagnosed by evaluating a trans-tracheal aspirate and a cryptococcal latex-particle agglutination antigen titer. Clinical remission was achieved with ketoconazole administration, an imidazole antifungal agent. Serial antigen titers were used to monitor treatment, which was continued for 12 months. Ketoconazole therapy was well tolerated by the dog.

Operator performance in the one-atmosphere diving system JIM in water at 20 degrees C and 30 degrees C.

Performance and physiology of five operators of the one-atmosphere diving system JIM were assessed when diving JIM in mild (20 degrees C) and warm (30 degrees C) water. Each operator completed a minimum of 3 dives at each water temperature; during each dive 5 walks of 18 m and 3 step maneuvers were accomplished. At the conclusion of 40-min dives in water at 30 degrees C, operator heart rate averaged 151 beats/min, system interior temperature averaged 32.6 degrees C, and the mean respiration rate of operators was 28 breaths/min. Task completion times were faster in warm water. Thermal considerations in the deployment of the JIM system are discussed in relation to these data.

Keratoconjunctivitis sicca associated with sulfonamide therapy in dogs.

During a 4-year period, keratoconjunctivitis sicca developed in 14 dogs treated with sulfonamides (13, sulfasalazine; 1, sulfadiazine and trimethoprim). Diagnosis was made in 3 dogs by clinical signs and in 11 by evaluation of the Schirmer tear test. Management of the problem included discontinuance of the sulfonamide, then use of ophthalmic preparations topically and antibiotics systemically. Pilocarpine was administered orally and topically to 11 dogs, with variable success. Lacrimation remained inadequate in 10 dogs and returned to normal in 3. One dog was lost to follow-up. Parotid salivary duct transpositions were performed in 3 dogs (in 2 successfully) with severe, unresponsive keratoconjunctivitis sicca.

Tremor and somatosensory studies during chamber He-O2 compressions to 13.1, 25.2, 37.3, and 49.4 ATA.

Comparison was made between intentional and postural tremor amplitudes with a 2-to 50-Hz bandwidth in four men rapidly compressed from surface to 13.1, 25.2, and 37.3 ATA in 4 h while breathing helium-oxygen mixtures (Predictive Studies IV, University of Pennsylvania). Excursions with compression rates of 20 and 40 ft/min were then made to 49.4 ATA on exposure days 2 and 3, returning to saturation at 37.3 ATA for 6 additional days. During compression from 25.2 to 37.3 ATA, there were increases in tremor amplitudes for both intentional and postural tremor in the 3-to 7-Hz and 8- to 12-Hz ranges. Both types of tremor showed increases in amplitudes at 49.4 ATA on exposure days 2 and 3. Amplitude changes in postural tremor, which occurred only on the fastest compression to 49.4 ATA, were less evident than those in intentional tremor during the remaining dive profile, and adaptation to pressure exposure could be defined by day 8. Intentional tremors did not show adaptation at pressure.

Assessment of vertical excursions and open-sea psychological performance at depths to 250 fsw.

A series of 10 two-man descending vertical excursion dives was carried out in the open sea from an ocean-floor habitat off the coast of Puerto Rico by four aquanauts saturated on a normoxic-nitrogen breathing mixture at a depth of 106 fsw. The purpose of these dives was two-fold: to validate laboratory findings with respect to decompression schedules and to determine whether such excursions would produce evidence of adaptation to nitrogen narcosis. For the latter, tests designed to measure time estimation, short-term memory, and auditory vigilance were used. The validation of experimental excursion tables was carried out without incidence of decompression sickness. Although no signs of nitrogen narcosis were noted during testing, all subjects made significantly longer time estimates in the habitat and during the excursions than on the surface. Variability and incomplete data prevented a statistical analysis of the short-term memory results, and the auditory vigilance proved unusable in the water.