De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α-subunit of the voltage-gated Ca2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission.

Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder.

Background: Neurodegenerative diseases are a heterogeneous group of disorders characterized by loss of neurons and are commonly associated with a genetic mutation.

Hypothesis/objectives: To characterize the clinical and histopathological features of a novel degenerative neurological disease affecting the brain of young adult Nova Scotia Duck Tolling Retrievers (NSDTRs).

Animals: Nine, young adult, related NSDTRs were evaluated for neurological dysfunction and rapid eye movement sleep behavior disorder.

Effect of dairy calcium from cheese and milk on fecal fat excretion, blood lipids, and appetite in young men.

Background: Calcium from different dairy sources might affect blood lipids and fecal fat excretion differently because of differences in the food matrix and nutritional composition.

Objective: We investigated whether milk- and cheese-based diets with similar calcium contents affect a saturated fatty acid-induced increase in blood lipids differently.

Design: Fifteen healthy, young men participated in a randomized 3 × 2-wk crossover study in which the following 3 isocaloric diets that were similar in fat contents and compositions were compared: control diet [nondairy diet (~500 mg Ca/d)], milk diet [semiskimmed milk-based diet (1700 mg Ca/d)], and cheese diet [semihard cow-cheese-based diet (1700 mg Ca/d)].

Pig α1-acid glycoprotein: characterization and first description in any species as a negative acute phase protein.

The serum protein α1-acid glycoprotein (AGP), also known as orosomucoid, is generally described as an archetypical positive acute phase protein. Here, porcine AGP was identified, purified and characterized from pooled pig serum. It was found to circulate as a single chain glycoprotein having an apparent molecular weight of 43 kDa by SDS-PAGE under reducing conditions, of which approximately 17 kDa were accounted for by N-bound oligosaccharides.