Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice.

Diagnostic exercise. Cerebral mass in a puppy with respiratory distress and progressive neurologic signs.

A 5-month-old mongrel puppy with a history of respiratory disease presented with progressive neurologic dysfunction. Hematologic results included leukocytosis (neutrophilia with a left shift) and lymphopenia. A mass in the right forebrain, identified by magnetic resonance imaging, was biopsied during decompressive craniectomy. The histologic diagnosis was granulomatous meningoencephalitis with intralesional amoebae. The dog died within 24 hours of surgery. At necropsy, a well-demarcated granuloma was confined to the cerebrum, but granulomatous pneumonia was disseminated through all lobes of the lung. Concurrent infections included canine distemper, canine adenoviral bronchiolitis, and oral candidiasis. Canine distemper virus probably caused immunosuppression and increased susceptibility to secondary infections.

The inositol trisphosphate receptor regulates a 50-second behavioral rhythm in C. elegans.

The C. elegans defecation cycle is characterized by the contraction of three distinct sets of muscles every 50 s. Our data indicate that this cycle is regulated by periodic calcium release mediated by the inositol trisphosphate receptor (IP3 receptor). Mutations in the IP3 receptor slow down or eliminate the cycle, while overexpression speeds up the cycle. The IP3 receptor controls these periodic muscle contractions nonautonomously from the intestine. In the intestinal cells, calcium levels oscillate with the same period as the defecation cycle and peak calcium levels immediately precede the first muscle contraction. Mutations in the IP3 receptor slow or eliminate these calcium oscillations. Thus, the IP3 receptor is an essential component of the timekeeper for this cycle and represents a novel mechanism for the control of behavioral rhythms.

Stimulation of calcitonin secretion by calcium receptor activators: evaluation using a new, highly sensitive, homologous immunoradiometric assay for rat calcitonin.

Current rat calcitonin immunoassays use human calcitonin antisera, and suffer from poor sensitivity, long incubation periods, nonspecific interferences, and unreliability. The homologous immunoradiometric assay (IRMA) for rat calcitonin described here overcomes these problems. Overnight incubation yields a detection limit of 0.4 pg/mL, a standard curve that is linear to >1800 pg/mL, and intra- and interassay coefficients of variation of <7%. Gel filtration chromatography of rat plasma and rat medullary thyroid carcinoma 44-2 cell media showed that the vast majority of immunoreactivity coeluted with calcitonin standard. In 44-2 cells, increasing extracellular Ca2+ concentration or incubation with the calcimimetic compound NPS R-467 markedly increased calcitonin secretion. Plasma calcitonin levels were elevated in rats anesthetized with ketamine/xylazine and in conscious rats with chronic renal insufficiency. Calcitonin levels decreased following EGTA-induced hypocalcemia and were undetectable after thyroparathyroidectomy. In normal conscious rats, plasma calcitonin levels averaged 3-5 pg/mL and increased up to 100-fold following calcium (Ca) infusion or NPS R-467 administration. The assay also quantified calcitonin in plasma of normal and Ca-injected mice. This assay has revealed that plasma calcitonin levels in normal rats are much lower than the detection limits of most existing assays, but can increase by 100-fold on activation of the C-cell Ca2+ receptor.

Electrical burns caused by fishing rod contact with overhead electric cables: a potential hazard to fishermen.

Three patients were admitted to the Burns Unit at Newcastle General Hospital suffering from varying degrees of electrical burn injuries. All were fishermen whose injuries had been caused by their highly conductive carbon fibre fishing rods touching overhead high voltage electrical cables. This paper also describes the information available to fishermen to assist in the prevention of this type of injury.