Phenotypic and Genotypic Features of the Mutation-Related Disease in a Large Hungarian Family.

Pathogenic variants in the gene lead to a systemic disease with karyomegalic interstitial nephritis (KIN) at the forefront clinically. The phenotypic-genotypic features of a mutation-related disease involving five members of a Hungarian Caucasian family are presented. Each had adult-onset chronic kidney disease of unknown cause treated with renal replacement therapy and elevated liver enzymes.

C-terminal fragments of amyloid-beta peptide cause cholinergic axonal degeneration by a toxic effect rather than by physical injury in the nondemented human brain.

Previous experimental studies have indicated that amyloid-beta peptide (Abeta) may cause axonal degeneration in the brain of individuals with Alzheimer's disease (AD) by physical injury, mass lesion, or membrane perturbation. In this study, acetylcholinesterase histochemical, and Abeta and tau immunohistochemical double-staining were performed in nondemented elderly human hippocampal and entorhinal brain samples, to demonstrate the presence of dystrophic neurites caused by the C-terminal or N-terminal fragments of Abeta. The early interactions between the Abeta-stained senile plaques (SPs) and the enzyme-positive axons were investigated.

New human Dirofilarioses in Hungary.

About ten cases of filariosis have recently been recorded in the Hungarian medical literature, six of them caused by Dirofilaria repens. Dirofilaria repensis a mosquito-transmitted filaroid worm in the subcutaneous tissue of dogs and cats in the temperate areas of the Old World. It accidentally infects man, too, and can remain unidentified due to physicians, poor knowledge of the parasite.

Pharyngeal dysphagia caused by isolated myogen dystrophy of musculus cricopharyngeus.

Five patients suffering from idiopathic cricopharyngeal dysfunction (without Zenker's diverticulum) were treated surgically. Together with cricopharyngeomyotomy biopsies were taken at the level of the cricopharyngeus. Histological, enzyme hystochemical and electronmicroscopic examinations were performed on all patients.

Cholinergic structures and neuropathologic alterations in the olfactory bulb of Alzheimer's disease brain samples.

This report describes the laminar distribution of acetylcholinesterase-positive structures and the neuropathologic alterations in the human olfactory bulb of control and Alzheimer's disease brain samples. The results suggests that no correlation exists between the distribution of cholinergic axons and the neuropathological alterations in the different layers in Alzheimer's disease.

[Specific enzyme diagnosis in mitochondrial myopathies and encephalomyopathies].

Mitochondrial enzyme activities (cytochrome c-oxidase = COX, carnitine acyl-transferase = CAT, citrate synthase = CS, lipoamide dehydrogenase = lipDH from the pyruvate-dehydrogenase complex, lactate dehydrogenase = LDH, and malate-dehydrogenase = MDH) were measured from progressive myopathy/encephalomyopathy. Cytochrome oxidase (COX) deficiency was detected from muscle or liver tissues, adult type of COX defectus had been diagnosed in 1 case and infantile type in further 6 cases. The 3 familial atactic children showed decreased activity of carnitine acetyl-transferase, too.

[Giant pigmented nevus associated with leptomeningeal melanocytosis].

A case of a thirteen-year old boy is reported with congenital pigmented nevi on the large part of the trunk and on the extremities. From his age of six generalised epileptiform convulsions were present. Owing to the suspicion of intracranial process he was examined with a negative result.

[Mitochondrial myopathy (mono- and multisystem mitochondrial diseases)].

Four mitochondrial myopathy cases are reported. In addition to complaints, clinical and laboratory findings the changes in number, size, shape and in structure of the mitochondria in skeletal muscles are detailed. In three of their cases the disease is monosystemic, one case seems to be multisystemic in character: beside the morphologically proven muscle and liver changes it is likely that cardiac muscle and the central nervous system is also affected on the base of the clinical symptoms.

[Cricopharyngeal achalasia caused by isolated muscular dystrophy].

The authors--in connection with two surgically successful treated cases--discuss the diagnosis and the surgical treatment of the cricopharyngeal achalasia. By means of histological methods it was verified that in the background of this disease stads an isolated muscle dystrophy localized to the upper esophageal sphincter.

A simple method for correlative light, scanning electron microscopic and X-ray microanalytical examination of the same section.

Thin paraffin sections, mounted on scanning specimen holders previously coated with polyester film tape (Minnesota Mining and MFG Co., Scotch film tape No. 850 gold), were processed for light microscopy (LM) in the conventional way, then covered with celloxin shellac and examined in the LM by using the upper illuminating source.

Arteriolar lesions in human renal biopsy material with special regard to the ultrastructural changes in the basal lamina network of the vascular wall.

The arteriolar changes in renal biopsy samples were studied by light and electron microscopy and immunohistologic observations. Arteriolar hyaline thickening was found to occur in virtually all renal diseases, regardless of whether these were accompanied by hypertension or not. Only amyloidosis and dense deposit glomerulonephritis were accompanied by specific ultrastructural arteriolar changes.