Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon ligation to produce mature messenger RNAs, which, in turn serve as templates for protein translation. We identified four point mutations in the U4atac snRNA component of the minor spliceosome in patients with brain and bone malformations and unexplained postnatal death [microcephalic osteodysplastic primordial dwarfism type 1 (MOPD 1) or Taybi-Linder syndrome (TALS); Mendelian Inheritance in Man ID no. 210710]. Expression of a subgroup of genes, possibly linked to the disease phenotype, and minor intron splicing were affected in cell lines derived from TALS patients. Our findings demonstrate a crucial role of the minor spliceosome component U4atac snRNA in early human development and postnatal survival.     

Increasing turtle strandings in the southeast United States: A complicating factor

Increased strandings of dead loggerhead sea turtles Caretta caretta on southeast US shores may be the result of increased fishing efficiency and improved recruitment of young turtles to the population. Possibly, the practice of discarding overboard large amounts of unwanted fish and biological material may provide a major energy resource for loggerhead sea turtles and crabs, which are also loggerhead food items. Our observations show that many dead loggerheads stranded on Cumberland Island had eaten man-caught food in addition to the expected diet of crabs and other bottom-dwelling animals. Consideration of alternative methods of handling the incidental fish catch while trawling for shrimp may be useful in reducing the problem of killing of sea turtles in shrimp trawls.     

Impacts of the Management of Radioactively Contaminated Land on Soil and Phosphorus Losses in Finland and Scotland

Although radioactive contamination of agricultural land mayrequire food production to cease, in many situations food contamination can be kept below the intervention limits throughapplication of countermeasures. However, the radiological benefits of these measures may be accompanied by negative impacts on the environment. The aim of this work was to assessthe impacts of selected countermeasures on water quality via losses of soil and phosphorus in river catchments in Scotland and Finland. Four countermeasures, suitable for different levelsof radioactive deposition, were studied: deep ploughing, skim and burial ploughing, changes in the feeding of livestock andcessation of production. The assessments were performed using adeterministic mathematical simulation model capable of estimatingthe impact of changes in management practices and land use on thehydrology and on soil and phosphorus losses from land to water.Skim and burial ploughing had the least impacts. Deep ploughinggenerally reduced phosphorus losses but had variable effects on soil loss, which depended on the erodibility of the subsoil. Changes in the dairy feeding regime from roughage-dominated (local grass production) to more concentrates (local cereal production or imported) had variable impacts, depending on the local agricultural systems and management practices. The worstimpacts on erosion and phosphorus losses may occur where large areas of grassland are converted to cereal production. Cessationof agricultural production resulted in large (50–90%) reductions in soil and phosphorus losses. The most recommended ofthe assessed countermeasures is skim and burial ploughing, but its wider use depends on the availability of specialized technical equipment.     

The oxygen resources of the hypolimnion of ionically enriched onondaga lake,NY, U.S.A.

The depletion of hypolimnetic DO and the upper depth boundary of anoxia for four different years (1978, 1979, 1980 and 1981), and the accumulation of sulfide for a single year (1981), are documented for ionically enriched hypereutrophic Onondaga Lake, NY, USA. The depletion rate, represented as the areal hypolimnetic oxygen deficit (AHOD, g m^?2 day^?1), was extremely high (1.2–2.7 g m^?2 day^?1), The large differences in the rate within individual years and from year to year were largely a result of differences in attendant vertical mixing (parameterized as the hypolimnetic heating rate). The entire hypolimnion (depth interval from 11 to 20 m) was without O₂ by late June of all 4 yr; anoxia was observed above the hypolimnion on some occasions when secondary stratification occurred. Sulfide accumulated progressively in the hypolimnion in 1981 following the onset of anoxia to a volume weighted concentration of I1 mg L^?1. The ionic discharge from an adjoining alkali manufacturer exacerbated the problem of limited O₂ resources of the hypolimnion by: (1) decreasing vertical mixing, (2) prolonging the duration of stratification, (3) causing abbreviated turnovers, and (4) encouraging increased rates of phytoplankton settling.     

ANATOMY OF THE PORTAL AND HEPATIC VEINS OF THE DOG: A BASIS FOR SYSTEMATIC EVALUATION OF THE LIVER BY ULTRASONOGRAPHY

The objective of this study was to define, in detail, the anatomy of the portal and hepatic veins in the dog in order to establish a procedure for the systematic evaluation of the liver by ultrasonography. Anatomical details were obtained from the formalin fixed livers of ten dogs. The hepatic and portal veins were removed intact from these livers so that a detailed pattern of distribution could be established and the numbers of branches could be counted. Silastic casts were also made of the hepatic and portal veins of two livers, one in situ and one in which it had been removed. The former was to enable the relationship of the portal to the hepatic veins to be established as closely as possible within the animal and the other to provide a model of the distribution of each venous system within the liver. Contrast medium was infused into two other livers and radiographs taken to establish the relationship of each branch to each lobe. It was found that there was a consistent pattern of venous branching to each lobe of the liver in the dog with little variation between individual specimens. All liver lobes contained definite venous branches so that the left lateral and medial, quadrate, right medial and lateral, caudate and papillary veins could be distinguished in each venous system. We believe that an appreciation of this venous distribution will aid in the systematic evaluation of the liver during ultrasonography by enabling identification of each liver lobe. It should be of value for differentiating portal from hepatic veins and veins from dilated bile ducts.     

Probable Essential Thrombocythemia in a Dog

Essential thrombocythemia (ET) in an 11-year-old dog was characterized by persistently high platelet counts (range, 4.19 X 10(6)/microliters to 4.95 X 10(6)/microliters, abnormal platelet morphology, marked megakaryocytic hyperplasia in the bone marrow, absence of circulating megakaryoblasts, and history of splenomegaly and gastrointestinal bleeding. Increased numbers of megakaryocytes and megakaryoblasts (15% to 20%) in the bone marrow were confirmed by a positive acetylcholinesterase reaction. Another significant finding was the presence of a basophilia in blood (4,836/microliters) and bone marrow. The marked persistent thrombocytosis, absence of reactive (secondary) thrombocytosis, abnormal platelet morphology, and quantitative and qualitative changes in the megakaryocytic series in the bone marrow suggested the presence of a myeloproliferative disease. Cytochemical and ultrastructural findings aided in the diagnosis of ET. The dog was treated with radiophosphorus. The results was a rapid decline in the numbers of megakaryoblasts and megakaryocytes in the bone marrow and platelets and basophils in the peripheral blood. The dog died unexpectedly of acute necrotizing pancreatitis and diabetes mellitus before a complete remission was achieved.     

Thrombocytopenia in Horses: 35 Cases (1989–1994)

The records of 3,952 equine patients presenting to the Veterinary Teaching Hospital at North Carolina State University College of Veterinary Medicine were evaluated to determine risk factors associated with thrombocytopenia. Of 2,346 horses from which a CBC was obtained, 35 (1.49%) were thrombocytopenic (platelet count < 75,000/μL). A reference population of 189 horses with normal platelet counts (75,000 to 300,000/μL) was also studied. Standardbred horses were at increased risk for thrombocytopenia. but age and gender were not identified as significant risk factors. Horses with infectious or inflammatory diseases were at increased risk for thrombocytopenia. The potential association of clinical and clinicopathologic factors with thrombocytopenia were assessed by reviewing a series of multiple logistic regression models. Clinical and clinicopathologic variables significantly associated with thrombocytopenia in the final model included increased PCV, increased band neutrophil count, increased total WBC, and decreased plasma protein concentration. Increased mature neutrophil count was associated with normal platelet counts. Thrombocytopenic horses were significantly more likely to die or be euthanized than were horses with normal platelet counts. J Vet Intern Med 1996;10:127–132. Copyright © 1996 by the American College of Veterinary Internal Medicine .