Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome.

Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whereas exome sequencing failed to detect the non-coding deletion, genome-wide CpG methylation analysis revealed an episignature suggestive of a Helsmoortel-Van der Aa syndrome diagnosis.

[Masticatory muscles. Part II. Functional properties of the masticatory muscle fibers].

The masticatory muscles in human beings and in other mammals show a number of specific adaptations. Their muscle fibres contain at least four different isoforms of myosin heavy chain (MHC) and many fibres express more than one kind simultaneously. This implicates a continuous range of fibre contraction speeds for these muscles.

The ACTH(4-9) analog ORG 2766 and recovery after brain damage in animal models--a review.

Treatment with adrenocorticotrophic hormone (ACTH), as well as with ACTH fragments and analogues, can influence behaviour of animals and humans. Furthermore it facilitates recovery of damaged peripheral nervous tissue. The question whether ACTH/MSH peptides affect recovery processes after injury to the central nervous system as well is addressed in the present review.

[Dental education in the Netherlands through the years].

Official dental education in the Netherlands started some 120 years ago, in 1876. From that moment on dental education developed itself from an old-fashioned apprentice system into the modern well-structured university education of today.

Simultaneous hand tracking does not affect human vergence pursuit.

In order to find out whether human vergence eye movements are influenced by simultaneous hand tracking movements, vergence was studied when sinusoidal (expressed in vergence angles) target movements were tracked. The target motion was externally generated and the target actually moved in depth. Tracking was done by the eyes alone or by the eyes and hand together, in both light and dark viewing conditions.

[3 cases of hypertrophic gastritis associated with a Ollulanus tricuspis infection in cats].

An infection with Ollulanus tricuspis was found in three cats with hypertrophic gastritis. Two cats were put down because of chronic vomiting and emaciation. The third cat died shortly after the appearance of blood in its vomit and faeces.

[Food products of animal origin and environment contaminants].

Environmental contaminants may reach humans via products of animal origin is obtained mainly from production animals but also from fish. Heavy metals such as lead, mercury and cadmium are present in food in minor quantities only and, in general, do not represent a serious threat to the consumer. Xenobiotics which accumulate in adipose tissue are discussed subsequently.

Visually controlled matching of pattern movement.

Subjects were asked to match the speeds of two moving random-dot patterns seen through circular apertures. The speed of one pattern that moved horizontally toward the right of a computer screen changed continuously. The speed of this pattern represented the target.

[Little by little, strangury in the bitch].

The importance of additional diagnostic studies, such as contrast radiography, urethrocystoscopy and biopsy will be illustrated with two cases in bitches with a disorder of the urethra accompanied by strangury.

[A comparative study of the in-vitro solubility and availability of magnesium from various sources for cattle].

Magnesium (Mg) is often added to the feed of cattle to meet the dietary requirements of this element. Magnesium oxide (MgO) is usually used. However, if the supplemented MgO does not dissolve in the rumen, it will not be effective.

[Hormones and mammary tumors in the bitch: a review].

Toxicity studies as well as epidemiological studies in veterinary medicine have shown that both ovarian steroids and a large number of synthetic derivatives may promote the formation of mammary tumours in dogs. Abnormalities in pituitary function, particularly in the secretion of growth hormones, have been assumed to be involved in this process. In the present paper the possible role of endogenous and exogenous hormones in the pathogenesis of mammary tumours in bitches is reviewed.

[Ivermectin poisoning in a dog. The use of ivermectin in companion animals].

In this paper the problems that may arise when ivermectin is used in small animal medicine are discussed. A case-report is presented concerning a Canadian-American White Shepherd showing symptoms of fatal ivermectin poisoning following a normal dosage of ivermectin (220 micrograms per kilogramme of body weight). The treatment of dogs with ivermectin poisoning is described and some guide lines concerning the use of ivermectin are given.

Monolayer characteristics and thermal behaviour of phosphatidic acids.

The monolayer and thermal behaviour of different phosphatidic acids are presented. At neutral pH and 22 degrees C dilauroylphosphatidic acid and unsaturated phosphatidic acids form liquid-expanded monolayers, while dipalmitoyl- and distearoylphosphatidic acid form condensed monolayers. Dimyristoylphosphatidic acid undergoes a transition from the liquid-expanded to the condensed state.

[Skeletal development in the dog in relation to nutrition].

Growth hormone (GH) and insulin-like growth factor I (IGF-I) play important roles during growth, including effects on enchondral ossification. GH plasma concentration is strongly influenced by the nutritional status of the dog. Fasting induces a non-responsiveness of the liver to GH, leading to a decrease in IGF-I release by the liver and a delay in growth.

The effects of age on phosphatic metabolites of the human crystalline lens.

Paired human lenses ranging from 2 to 96 yr old (n = 17) were harvested within 2 hr post-mortem and immersed in liquid nitrogen. Phosphorus containing metabolites from perchloric acid extracts were quantitated using phosphorus-31 nuclear magnetic resonance spectroscopy. Low-energy metabolites detected include the phosphomonoesters (PME) hexose-6 phosphate, alpha-glycerol phosphate, fructose 1,6-diphosphate, beta-glycerol phosphate (beta-GP), uncharacterized phosphomonoesters at 4.

31P magnetic resonance phospholipid profiles of neoplastic human breast tissues.

Phospholipids from malignant, benign and noninvolved human breast tissues were extracted by chloroform-methanol (2:1) and analysed by 31P MR spectroscopy at 202.4 MHz. Thirteen phospholipids were identified as constituents of the profiles obtained among the 55 tissue specimens analysed.