Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the value in normal controls by immunoblotting analysis. We identified 11 different mutations, including eight missense and three deletion mutations. Nine of them were novel mutations. We also identified a unique 6-bp insertion polymorphism within the coding region of DYSF in 15% of Italian population, which was not observed in East Asian populations. The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms.     

A case of renal angiomyolipoma with bone formation

A case of renal angiomyolipoma with bone formation is reported. A 61-year-old woman was admitted to our hospital with one month history of fever. About 15 cm in diameter mass was palpated in her right lower abdomen. Plain abdominal roentgenography, ultrasonography and computed tomography showed marked calcification in the cephalic portion of the right kidney, tumors surrounding right kidney and another tumor in the right lower abdomen. All these tumors and the kidney constituted a big mass continuously, and no fatty component was demonstrated. Total excision of the mass including the kidney was performed. The mass was 30 X 24 X 10 cm in size and 3,240 g in weight. Histologically, the tumor was compatible to renal angiomyolipoma. But, radiopaque shadows which looked like calcification were disclosed to be bones, and fatty tissues were not seen so much. Therefore, the name "benign mesenchymoma" was thought to be more acceptable than angiomyolipoma in this case. Preoperative diagnosis of renal angiomyolipoma is the demonstration of fatty densities in the tumor, and the characteristic extrarenal development should also be taken into consideration. Furthermore, the bone formation of angiomyolipoma, which is very rare might be an important finding to angiomyolipoma.     

Studies on the muscarine receptors in rat gastric smooth muscle

It has been reported that the two types of muscarinic receptors, "M1" and "M2", exist in the opossum lower esophageal sphincter. The presence of these muscarinic receptor subtypes had been confirmed with the discovery of the M1 selective antagonist, pirenzepine. But little is known about muscarinic receptor subtypes in gastric smooth muscle. The aim of this study was to identify the muscarinic receptor subtypes on the gastric smooth muscle responsible for the contraction of rat gastric muscle strip. Also, we examined the mechanism of the action of aclatonium napadisilate on rat gastric smooth muscle in vitro. The stimulation of M2 receptor caused the contraction of the gastric smooth muscle. McN-A-343, selective M1 agonist, caused weak contraction of the gastric smooth muscle, and this response was not affected by the selective M1 antagonist, pirenzepine. Aclatonium napadisilate stimulated M2 receptor and caused the gastric smooth muscle contraction. We conclude that the contraction of the gastric smooth muscle is caused by the stimulation of the M2 receptor and this reaction was not affected by tetrodotoxin, suggesting the M2 receptor is located directly on the gastric smooth muscle. The weak contraction of the gastric smooth muscle caused by McN-A-343 was not affected by the selective M1 antagonist, pirenzepine, suggesting that McN-A-343 may not be a pure M1 selective agonist. The action of aclatonium napadisilate is supposed to stimulate the M2 receptor.     

Positron emission tomography (PET) in "pure akinesia".

Positron emission tomography (PET) studies on regional cerebral glucose metabolism and [18F]fluorodopa uptake were performed on 3 patients with "pure akinesia without rigidity and tremors", 3 progressive supranuclear palsy (PSP) patients, and 5 patients with Parkinson's disease. The "pure akinesia" and PSP patients showed a marked decrease in glucose metabolism in the frontal cortex and striatum, and a decreased uptake of [18F]fluorodopa in the striatum. While the Parkinson's disease patients had a decreased uptake of [18F]fluorodopa in the striatum but no abnormality in the glucose metabolism. Magnetic resonance imaging (MRI) showed atrophy of the pretectum and dorsal pons in "pure akinesia" and PSP patients, but there was no such abnormality in the Parkinson's disease patients. As described above, patients with "pure akinesia" and PSP patients revealed similar findings on PET and MRI studies, while Parkinson's disease patients showed substantially different results.     

"My hand" sign associated with tactile extinction in two patients with callosal lesion

Two patients with "my hand" sign in association with tactile extinction from callosal lesion, one due to left anterior cerebral artery occlusion, the other due to right anterior cerebral artery aneurysm rupture, were reported. The examination of "my hand" sign was performed with the methods proposed by Brion et al. Our patients correctly responded when they grasped their own or the examiner's thumb with their left hand. But they replied "my finger"when they grasped not only their own but also the examiner's thumb with their right hand. Left tactile extinction was observed after a routine extinction test in one patient, and it was observed in the other after the following method: both patient's index fingers were disposed in his midline position. In these methods of extinction test, they made errors in saying "right" when both fingers were touched simultaneously. However, they said "both" when their right index finger alone was touched (synchiria) during an extinction test using the following method: both index fingers of patients were approached by examiner to touch each other or for one of them to touch the examiner's finger. When they were asked whose finger they touched in this method (whose finger test), they made the same errors as seen in "my hand" sign test. These test results suggest that there is a common underlying mechanism in the "my hand" sign and extinction, because the sense of double stimulations felt when only one stimulation is given (synchiria), is a possible explanation for the "my hand" sign and the pathogenesis of synchiria appears to be related to extinction.(ABSTRACT TRUNCATED AT 250 WORDS)     

A case of adenocarcinoma of the nasal cavity associated with syndrome of inappropriate secretion of antidiuretic hormone(SIADH)

An inappropriate antidiuretic hormone secretion (SIADH) has been recognized as the cause of hypotonic hyponatremia, and the occurrence of this syndrome, accompanied by an ADH-producing adenocarcinoma in the nasal cavity, is reported. In February, 1987, a 50-year-old male, showing sights of delirium, disorientation, and irritability was admitted to the hospital. The patient was observed to be healthy, except for a neck lymphnode metastasis that was present up to the time of his hospitalization. The hyponatremia was incidentally found, although dehydration or intravascular volume depletion were not noted. These neuropsychiatric symptoms were considered to be associated with hyponatremia due to SIADH. He had had a partial maxillectomy, a neck dissection, and irradiation to the nose and nasal cavity 32 months earlier, and then underwent a surgical resection of the neck metastasis; he had a total of 10 other operations before the onset of the symptoms. Upon initial inspection, since neither an intracranial invasion nor a brain metastasis was found, we diagnosed that his symptoms were due to an autonomic disturbance caused by surgical and mental "stress". When he died of cardiac failure due to a mediastinal invasion 8 months after the onset of SIADH, tumor tissues was extirpated in an autopsy and was then cultured. In this manner, it was proved that the tumor cells had been producing ADH. This procedure clarified that the syndrome had resulted from an ADH-producing tumor of the nasal cavity.     

Morphometric difference in the human maxillary nerve fibers between dentulous and edentulous jaw subjects

This study was conducted to quantify the change in the number and size of myelinated nerve fibers of the maxillary nerve with tooth loss in humans. We carried out a morphometric analysis to compare the number and size of myelinated nerve fibers in the human maxillary nerve between four dentulous and four edentulous jaw cases. Our results indicated that the number of axons decreased by approximately 13,000 with tooth loss. The average size of axons remained unchanged, but there was a change in the fiber size distribution, namely the loss of a large number of small-sized axons was accompanied by the total disappearance of small number of large-sized axons.     

Characterization of a G14 equine rotavirus (strain CH3) isolated in Japan

Summary Antigenic and genomic properties of equine rotavirus strain CH3 isolated in Japan were studied by cross-neutralization tests and nucleotide sequence determination of the VP4 and VP7 genes. It was shown that the strain CH3 belongs to G14 and shares VP4 genotype with strain H2.The nucleotide sequence data reported in this paper appear in the DDBJ, EMBL and GeneBank nucleotide sequence detabases under the accession numbers D25228 (VP4 of strain CH3) and D25229 (VP7 of strain CH3).     

Expression of the alpha1D subunit of the L-type voltage gated calcium channel in human liver

Calcium channel blocker is useful for a variety of purposes and is effective for preventing hepatitis elicited by different inducers, suggesting its possible clinical application for treating hepatitis. The alpha1-subunit of the dihydropyridine-sensitive L-type calcium channel is a target of calcium channel blocker. For clinical application of calcium channel blocker, it is important to analyze the expression of the L-type calcium channel in the liver. However, the subtype of the L-type calcium channel alpha1-subunit expressed in the liver was not known. In the present study, the alpha1-subunit of the calcium channel expressed in human liver was systematically analyzed. The alpha1D subunit of the dihydropyridine-sensitive L-type voltage gated calcium channel is expressed relatively strongly in the liver and may play an important role in the liver.     

Early morphological changes in the striated muscles in normal and dystrophic chickens

Histological and histochemical analyses were performed on the anterior latissimus dorsi muscle (ALD, red muscle) and the posterior latissimus dorsi muscle (PLD, white muscle) in normal (line 412) and dystrophic chickens (line 413) from 19 day embryos to 6 weeks of age. PLD, the white muscle, in dystrophic chickens showed higher percentages of red and intermediate fibres than those of normal chickens during the early development of muscles. Increases of the oxidative enzyme activities and the numbers of NADH--TR formazan granules in the white fibres of PLD were already found at 1 week of age in dystrophic chicken. Fibre types, oxidative enzyme activities and NADH--TR formazan granules showed no differences in ALD between normal and dystrophic chickens. These results suggest that increases of oxidative enzyme activities and formazan granule numbers and incomplete fibre type differentiation in PLD of dystrophic chickens are early pathological processes in such birds.