Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy.

Juvenile idiopathic epilepsy (JIE) is a self-limiting neurological disorder with a suspected genetic predisposition affecting young Arabian foals of the Egyptian lineage. The condition is characterized by tonic-clonic seizures with intermittent post-ictal blindness, in which most incidents are sporadic and unrecognized. This study aimed to identify genetic components shared across a local cohort of Arabian foals diagnosed with JIE via a combined whole genome and targeted resequencing approach: Initial whole genome comparisons between a small cohort of nine diagnosed foals (cases) and 27 controls from other horse breeds identified variants uniquely shared amongst the case cohort. Further validation via targeted resequencing of these variants, that pertain to non-intergenic regions, on additional eleven case individuals revealed a single 19bp deletion coupled with a triple-C insertion (Δ19InsCCC) within the TRIM39-RPP21 gene readthrough that was uniquely shared across all case individuals, and absent from three additional Arabian controls. Furthermore, we have confirmed recent findings refuting potential linkage between JIE and other inherited diseases in the Arabian lineage, and refuted the potential linkage between JIE and genes predisposing a similar disorder in human newborns. This is the first study to report a genetic variant to be shared in a sub-population cohort of Arabian foals diagnosed with JIE. Further evaluation of the sensitivity and specificity of the Δ19InsCCC allele within additional cohorts of the Arabian horse is warranted in order to validate its credibility as a marker for JIE, and to ascertain whether it has been introduced into other horse breeds by Arabian ancestry.

Medicinal plants and cancer chemoprevention.

Cancer is the second leading cause of death worldwide. Although great advancements have been made in the treatment and control of cancer progression, significant deficiencies and room for improvement remain. A number of undesired side effects sometimes occur during chemotherapy. Natural therapies, such as the use of plant-derived products in cancer treatment, may reduce adverse side effects. Currently, a few plant products are being used to treat cancer. However, a myriad of many plant products exist that have shown very promising anti-cancer properties in vitro, but have yet to be evaluated in humans. Further study is required to determine the efficacy of these plant products in treating cancers in humans. This review will focus on the various plant-derived chemical compounds that have, in recent years, shown promise as anticancer agents and will outline their potential mechanism of action.

Omphalocele in a foal.

An omphalocele was detected at birth in a male Arabian foal. The mass contained small intestine and after releasing a constricting band at the body wall, the contents slipped easily back into the abdomen. On the outside was the hairless pink membrane. The interior, now empty of small intestine, contained the umbilical arteries and vein, and a large urachus that extended from the bladder to the opening at the extremity of the mass. Six days after corrective surgery the foal was sent home and remained healthy.

Seroprevalence of Babesia equi among horses in Israel using competitive inhibition ELISA and IFA assays.

Sera from 361 horses were tested by indirect immunofluorescence antibody test (IFA) and by competitive inhibition ELISA (cELISA), to detect antibodies to Babesia equi. The concordance between the assays was 95.7%. Application of a cutoff based on a calculated percent inhibition of < 20% gave a total of 22 discrepant results, while only 8 sera negative by the cELISA were found positive by the IFA when a cutoff of > 20% inhibition was used. Approximately one-third of all the horses tested were found serologically positive to B. equi, with more horses testing positive from northern Israel. Among horses raised with access to pasture there was a significant difference in the percentage of seropositive reactors (76.6% in the north and 20.1% in the central region), compared with horses without access to pasture (14.3 and 10.3%, respectively). Nineteen percent of stallions were found to be positive, which was significantly less than the proportions of seropositive mares and geldings: 38 and 42%, respectively. No significant association was found between the mean age of horses and seroreactivity to B. equi.

Cardiovascular malformations in lecanosomatopagus conjoined twins: a cardiologic curiosity.

Female conjoined twins were delivered after 42 weeks' gestation, but they died within a few minutes of birth. They were dicephalus, dibrachius and dipus conjoined twins with two separate spines and fusion of the trunk and the pelvis. The pericardial sac was common, and the heart was a single structure. The atrial complex was a common chamber with an attempt at division into two parts by a circular ridge of tissue; the ventricular complex was formed by three chambers which were all communicating between each other in the superior margin of their muscular interventricular septum.

Bone marrow biopsy in multiple myeloma: a clinical pathological study.

Forty-two bone marrow aspirates and biopsies during follow-up examinations from patients with multiple myeloma were reviewed to determine whether the results correlate with the clinical state of the patient at the time of examination. The percentage of plasma cells on biopsy and aspiration, cytological immaturity, patterns of plasma cell infiltration, and the presence or absence of multiple lymphoid nodules and marked fibrosis were cross-tabulated with clinical parameters (hemoglobin levels, osteolytic lesions, and renal function). Hemoglobin levels less than 10 g/dl were more frequent in those with greater than 70% plasma cells on either aspiration or biopsy (P less than 0.05). A nodular histological pattern on biopsy, however, had a higher correlation with hemoglobin levels less than 10 g/dl, and serum creatinine levels greater than 2 mg/dl, than did plasma cell number. The presence of lymphoid nodules correlated with less lytic bone lesions. The degree of fibrosis and plasma cell immaturity did not correlate with any of the clinical parameters. Our findings suggest that reports on bone biopsies should include in addition to the number of plasma cells, the pattern of plasma cell infiltration and the presence or absence of multiple lymphoid nodules.

Double outlet right ventricle associated with persistent common atrioventricular canal and pulmonary stenosis.

A case of a month-old baby admitted for dyspnea and cyanosis, is described. His past history consisted of only mild cyanosis during crying. On physical examination nail beds and lips were cyanotic; on heart auscultation the pulmonary second sound was single. The chest X-ray showed a decreased pulmonary vascularity; the ECG demonstrated extreme right axis deviation (-170 degrees). Capillary gas analysis revealed hypoxic metabolic acidosis. Ten hours after his admission the child suddenly died. The anatomicopathological examination stated the diagnosis of double outlet right ventricle (DORV), infundibular pulmonary stenosis and common atrioventricular canal (transitional type). When clinical findings are compatible with DORV the ECG could be of value in establishing the presence of common atrioventricular canal when extreme right axis deviation is found.