A case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development

An atypical case of hereditary motor and sensory neuropathy of neuronal type with retardation of motor development was described. The patient was a 15-year-old boy who had suffered from distal muscle weakness with atrophy of four limbs and deformities of hands and feet since age 6 months. These symptoms were slowly progressive. He had never walked. His parents were not consanguinous. His parents and two siblings were unremarkable on neurological examination and on nerve conduction studies. On neurological examination, he showed severe degree of muscle weakness and atrophy in the distal upper and lower limbs, moderate degree of muscle weakness and atrophy in the proximal upper limbs and slight degree of made weakness and atrophy in the proximal upper limbs. Deep tendon reflexes in four limbs were decreased or absent. Vibration sensation was moderately decreased in the distal parts of four limbs. On the nerve conduction studies, no sensory nerve potential was recorded in the median, ulnar and sural nerves bilaterally. Motor nerve conduction velocity of the right tibial nerve was 21 m/sec and the amplitude of the compound muscle action potential (M-wave) was 0.15 mV, and no M-wave was elicited with the electrical stimulation of the median, ulnar and peroneal nerves. Neelde EMG showed fibrillation potentials and giant spikes with a reduction of the number of motor units. On sural nerve biopsy, the densities of both myelinated and unmyelinated fibers were severely decreased.(ABSTRACT TRUNCATED AT 250 WORDS)     

Quantitative MRI study of progressive cerebral atrophy in multiple system atrophy]

We investigated cerebral atrophy in multiple system atrophy (MSA) by quantitative analysis of MRI. The subjects were 28 patients with MSA (14 striato-nigral degeneration; SND, 14 olivo-ponto-cerebellar atrophy; OPCA. 106 MRI examinations were performed totally) and 85 normal persons for control. The ratios of the ventral pons to the infratentorial space in the sagittal section, the putamen, cerebrum, frontal lobe and parietal & occipital lobes to the intracranial space in the horizontal section, and the temporal lobe to the intracranial space in the coronal section were measured. In the early stage of the disease, OPCA showed significant atrophy of the ventral pons compared with SND, and conversely, SND demonstrated significantly smaller putamen than that in OPCA. According to the progression of the disease, the atrophy of these neural tissues progressed, which resulted in no significant differences between SND and OPCA. The cerebral atrophy was observed in 17 MSA patients. The atrophy of the frontal lobe was much frequent and prominent to that in the temporal lobe and parietal & occipital lobes. SND showed higher incidence of the cerebral atrophy than OPCA in the early stage of the disease. In long period follow-up cases, one case showed cerebral atrophy in earlier stage, and another case in late stage. We indicated the involvement of the cerebral hemispheres in MSA, especially the frontal lobe.     

Clinical and etiological studies of tsutsugamushi disease in Miyazaki district--correlation of serological type of R. tsutsugamushi to clinical feature

The correlation of pathogenic and immunologic characteristics of Rickettsia tsutsugamushi to clinical findings of patients with tsutsugamushi disease in Miyazaki was investigated. In two immunological types, Hirano type strains seemed to have higher virulence to mice than Irie from the findings during the course of infection and on autopsy. A strain of Hirano type was so virulent as to succumb to the infection. As to clinical findings, incidence of hepatomegaly was slightly higher in Hirano type patients than Irie, which is one of the signs in severe type tsutsugamushi disease. This was supported by the higher mean value and frequent appearance of abnormality in liver function test, sGOT, sGPT and LDH, in this type of patients.     

A new method of hernioplasty for adult groin hernias centering on repair of the transversalis fascia

A new method of hernioplasty for adult groin hernias centering on repair of the transversalis fascia was assessed by a questionnaire conducted every five years on adult patients who had received the above operation. The efficacy of this method was evaluated in terms of the postoperative quality of life and prevention of recurrence of groin hernias. Over the last 9 years, 834 adult patients with 921 groin hernias, including bilateral lesions, have undergone the above procedure and overall, favorable results were obtained, with only one case of recurrence (0.1 per cent) being reported. Contralateral herniation, which has been often reported following Bassini's or Hatakoshi's method, was found in only one of our patients although the number of patients who complained of pain in the operated region was comparatively high, being 51 cases or 11.4 per cent.     

Recurrence and survival rates in British and Japanese women with breast cancer

The biology of breast cancer in Japan appears to be changing in that, while post-menopausal Japanese patients have a better prognosis than comparable British women, no differences in recurrence or survival rates can now be found in pre-menopausal patients.     

Immunosupressants and calcineurin inhibitors, cyclosporin A and FK506, reversibly inhibit epileptogenesis in amygdaloid kindled rat

Calcineurin (CaN) immunoreactivity and content increased markedly in kindled rat brain, and this increment was due to CaN in the membrane fraction. Investigation of the effects of cyclosporin A and FK506 (immunosuppressants which inhibit CaN activity in T lymphcytes) in the kindling phenomena showed that the kindling stage progression was reversibly blocked by these drugs. These findings suggest that calcineurin may play an essential role in acquiring epileptogenesis in kindling.     

Comparison of the Adsorption Ability Between Tryptophan and Modified Tryptophan Columns

Abstract: Immunoadsorption therapy (IAT) using the tryptophan column (TR:TR-350, Asahi Medical Co., Tokyo, Japan) is used for patients with Guillain-Barré syndrome or Fisher's syndrome. Recently, a modified tryptophan column (modified TR:TR-350S, Asahi) was developed to reduce adsorption of fibrinogens. However, it is not clear whether the new column can effectively adsorb the antiganglioside antibodies. We treated 2 patients with Guillain-Barré syndrome, 1 patient with Fisher's syndrome, and 1 patient with Bickerstaff s brainstem encephalitis by IAT using the TR and the modified TR. Samples were taken from the inlet and outlet of the affinity column. We compared the adsorption ability of antiganglioside antibodies between the TR and modified TR. The modified TR adsorbed antiganglioside antibodies less effectively than the TR. No significant bleeding was observed in the patients during each session. Furthermore, results of the clinical study were confirmed by batchwise adsorption test. We propose that the modified TR should not be used for treating patients with Guillain-Barré syndrome and related disorders.—     

Cellular electrophysiological effects of MS-551, a new class III antiarrhythmic agent

The cellular electrophysiological effects of MS-551, a pure class III antiarrhythmic agent lacking beta-blocking activity, were compared with those of d-sotalol and dofetilide in canine Purkinje fibers and ventricular muscles and in guinea pig atrial muscles using the standard microelectrode technique. MS-551 prolonged the action potential duration (APD) of these cardiac tissues to the same extent in a concentration-dependent manner (10^?6?10^?4 M). MS-551 did not affect other action potential parameters of these tissues except for the V_max, which was depressed approximately 10% at 10^?4 M MS-551. The extents of prolongation after 10^?5 M of MS-551 were 36, 27, and 35% for canine Purkinje and ventricular muscle and guinea pig atrial muscle, respectively. d-Stalol at a concentration 10 times higher than MS-551 produced a similar prolongation of the APD of canine cardiac tissues but only a slight prolongation of the APD of guinea pig atrial muscles. Dofetilide at a concentration 30 times lower than MS-551 produced a prolongation of the APD of canine Purkinje fibers but a relatively slight prolongation of the APD of both canine ventricular muscles and guinea pig atrial muscles. In canine Purkinje fibers, MS-551 did not prevent the APD shortening induced by high extracellular potassium (8 and 12 mM), but the APD under these conditions was lengthened compared with controls. Under simulated ischemic conditions (pO₂ 25–30 mmHg, pH 6.5, extracellular K 8 mM and no glucose) for 30 min, the APD was abruptly shortened during the first 5 min, then gradually shortened further up until 30 min. MS-551 did not prevent the abrupt APD shortening, but slowed the later gradual shortening. The APD prolonging action of MS-551 was enhanced at low frequency. These data indicate that (1) MS-551 is a pure class III antiarrhythmic agent with electrophysiological characteristics basically similar to d-sotalol and dofetilide; (2) MS-551 has a relatively greater potency in guinea pig atrial muscle than d-sotalol and dofetilide; (3) the APD prolonging action of MS-551 is preserved under high K⁺ or simulated ischemic conditions; and (4) MS-551 exhibits a reverse use-dependence in prolonging APD. © 1995 Wiley-Liss, Inc.     

A patient with paraneoplastic limbic encephalitis induced by breast cancer presenting with hypersomnia]

A 50-year-old woman developed gait disturbance and hypersomnia over a period of a month. General physical examination revealed axillary lymph node swelling. On neurological examinations she was fully orientated but hypersomnic; short term memory disturbance, horizontal gaze evoked nystagmus and ataxic gait were observed. Electroencephalography disclosed a tendency for easily decreasing vigilance with delta activities but normal dominant rhythm. Cerebrospinal fluid examinations showed increased protein amounts (109 mg/dl) without either pleocytosis or atypical cells. An echogram of the breasts revealed a tiny mass in the left side. Pathological studies on a biopsied lymph node and the mass in her left breast showed a mammillary duct carcinoma. Brain MRI was normal, and no anti-neuronal antibody was detected in sera by two dimensional immunoblotting using human brain crude antigens. She was diagnosed as having paraneoplastic limbic encephalitis (PLE) associated with breast cancer. Over 42 hours polysomnography showed long total sleep time (TST) with a high ratio of sleep stage 1/TST and no REM sleep abnormalities; this resembled a thalamic-hypothalamic damaged sleep pattern. At first she was treated with plasma exchanges, but no improvement was observed. Hormonal and chemotherapies produced partial resolution of her neurologic symptoms and there were signs of reduction of the breast mass. Most reported PLE cases with hypersomnia have been associated with testicular cancer and anti-Ma antibodies. The present case is an extremely rare example manifesting hypersomnia without either testicular cancer or anti-Ma antibody. Since anti-tumor therapy successfully ameliorated her neurologic symptoms, cell-mediated immunity against a common tumor and neuronal antigens rather than hormonal immunity may have played a role in the development of her PLE.