[Sneddon's syndrome and systemic lupus erythematosus with cerebrovascular disturbances and widespread livedo].

A comparative clinical and instrumental analysis of 97 patients with Sneddon's syndrome (SS), a combination of cerebrovascular ischemic disturbances with widespread livedo, and 12 patients with systemic lupus erythematosus (SLE) with the same combination, has been conducted. Despite the presence of similar features related to antiphospholipid syndrome (APS)--cerebrovascular disturbances, livedo, fetal loss, peripheral venous thrombosis, thrombocytopenia, antibodies to phospholipids, etc--there were distinct differences between SS and SLE. In SS, no skin lesions ("butterfly", discoid lupus, photosensibilization) typical for SLE as well as sores of mucous oral cavity, polyarthritis, serosity, diagnostically significant titers of antinuclear factor and antibodies to DNA were observed. SS emerged with livedo (44%), cerebrovascular disturbances (24%) and systemic APS appearances (32%). SLE in 75% cases began with its classical symptoms and in 25% with systemic APS signs and never with livedo or cerebrovascular disturbances. For 10.5 +/- 8.0 years, no cases of SS were featured by typical SLE symptoms. Pathomorphological study indicated that SS and SLE were independent diseases. Their similarity was due to development of secondary APS, including cerebrovascular disturbances and livedo, in some patients with SLE.

[Pathology of the brain in Creutzfeldt-Jakob disease]. / Patologiia golovnogo mozga pri bolezni Kreittsfel'dta-Iakoba.

The autopsy cases of Creitsfeldt-Jacob disease (a sporadic form) are reported which were diagnosed clinically and supported by the data of biopsy and autopsy of the brain (classic triad: death of neurons, astrogliosis and spongiform degeneration of the gray substance of the cortex of brain hemispheres, preferentially), followed by clinical morphologic comparisons. The focal character of the disease was observed on the early stages of the disease, while diffuse alterations were found on the late stages.

[The ultrastructural localization of NO-synthase NADPH diaphorase in a peripheral nerve and its change in diphtheritic polyneuropathy]. / Ul'trastrukturnaia lokalizatsiia NO-sintaznoi NADPH-diaforazy v perifericheskom nerve i ee izmenenie pri difteriinoi polineiropatii.

Light and electron microscopy was used to study the distribution and changes of NADPH-diaphorase in the cutaneous nerve biopsy specimens in different periods of diphtheritic polyneuropathy (DP). there was a reduction in the reaction rate of the enzyme in Schwann's cells of the destructively changed nerve fibers and an increase in the remyelinated nerve fibers. The enzyme is located on the nuclear and endoplasmic reticulum membranes and ribosomes. It is suggested that there is an association of the synthesis of nitric oxide with the myelin-producing function of Schwann's cells.

[Expression of NADPH-diaphorase in the peripheral nerve and its changes at different stages of diphtheritic polyneuropathy]. / Ekspressiia NADPH-diaforazy v perifericheskom nerve i ee izmenenie na raznykh stadiiakh difteriinoi polineiropatii.

Distribution and intensity of NADPH-d reactivity, a marker for enzyme of the nitric oxide synthesis, in nervus suralis biopsies in severe DP were studied at light and electron microscopic levels. The study of control specimens has shown that NADPH-d reactivity was permanently present in Schwann cells (SC) and was distributed in all parts of their cytoplasm. Axon and myelin were devoid of NADPH-d reactivity. A decrease of enzyme reactivity in SC cytoplasm of the damaged nerve fibers and rising enzyme reactivity in the cytoplasm of activated SC were observed in DP. High reactivity in SC of small fibers was found at earlier stages and that of thick fibers at later stages. This distinction reflected, apparently, sequence of entering at first thin, then thick fibres in the reparative process. Under the electron microscope, the reaction product was deposited on membranes of endoplasmic reticulum, nuclear membrane and Golgi complex. The enzyme was also located in nucleus of activated SC. Ultrastructural location and the fact that the highest intensity of reaction is present in SC of nervous fibres with morphological signs of remyelination suggest link of this enzyme with the reparative process. This study provides the first evidence of NADPH-d reactivity in SC and shows that NADPH-d histochemistry is a useful tool for peripheral nerve biopsies study.

[In vivo diagnosis of Creutzfeldt-Jakob disease]. / Prizhiznennaia diagnostika bolezni Kreitzfel'dta-Iakoba.

The paper presents the data concerning usage of some original method of vital laboratory diagnostics of Creutzfeldt-Jacob disease that belongs to the group of prionic diseases. The method consisted in the inoculation of inoculative culture of rat Gasser ganglion's neurinoma by biologic materials investigated (serum and clot of blood) with the following passivation and investigation of the contaminated culture by means of both morphologic and electron microscopic methods. As an example of vital verificated case the wide pathomorphologic analysis of the biopsy sample of brain was presented. Besides, the efficiency of the investigation of cognitive evoked potentials (P300) together with EEG was also demonstrated as the method of objectification of the development of dementia in this disease.

[Diphtheritic polyneuropathy: clinico-morphologic study]. / Difteriinaia polineiropatiia: kliniko-morfologicheskoe issledovanie.

18 patients with grave DP treated with a long-term artificial pulmonary ventilation and feeding through a naso-gastric probe were studied. Biopsies of n. suralis taken at different periods after the appearance of the first signs of DP (from the 19th to the 69th day) were studied at light and electronic microscopy. The basis of DP is toxic myelopathy with paranodal demyelination mainly in the large myelinated neural fibers and a segmentary one in the smaller neural fibers. Axonal degeneration was observed in the gravest cases of DP and was secondary being the result of axon squeezing by a folded myelin and voluminous Schwann cell cytoplasm invaginated into the axon. In no case of DP inflammatory changes and(or) involvement of the immunocompetent cells were found. There was pronounced proliferation and activation of Schwann cells due to intensive utilization of the degradation products of myelin and remyelinization. Morphological signs of remyelinization were observed on the 35th day of DP in the presence of enhancing neurological symptoms. But remyelinization was not complete even on the 69th day of DP.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes of progressive muscular dystrophy were identified in this large family. Seven patients developed a classical limb-girdle variant of muscular dystrophy (LGMD), with disease onset at 15-30 years and loss of ambulation within a 25-year course. The second group included three patients with a slowly progressive distal myopathy first manifested in the late teens and confined to the tibial and calf muscles. Each of these two phenotypes segregated independently as an autosomal recessive trait, and muscle biopsies showed non-specific myopathic changes. Lastly, two male siblings exhibited an atypical variant of Duchenne muscular dystrophy confirmed by detection of a deletion in the dystrophin gene. To clarify the molecular basis of the polymorphic autosomal recessive form of muscular dystrophy in this kindred, we performed molecular genetic studies on 67 family members and obtained significant evidence for linkage to chromosome 2p. A maximum pairwise lod (logarithm of odds) score of 5.64 was achieved at the zero recombination fraction (i.e. at theta = 0.00) for locus D2S291; multipoint linkage analysis confirmed the most likely location of a mutant gene near D2S291. The patients with LGMD and those with the distal muscular dystrophy phenotype share a common affected homozygous haplotype associated with the same founder chromosome; key recombinants defined D2S286 and D2S292 to be the closest loci flanking the mutant gene. Remarkably, two clinically distinct forms of autosomal recessive muscular dystrophy, LGMD type 2B (LGMD2B) and Miyoshi myopathy, were recently mapped to the same locus. We suggest that all three chromosome 2p-linked conditions may represent allelic disorders, i.e. different phenotypic expressions of a single gene.

[The Guillain-Barré syndrome]. / Sindrom Giiena--Barre.

A clinicomorphological study was conducted in 11 patients with severe forms of Guillain-Barré syndrome (GBS) at different periods of the disease. Five postmortem cases of GBS were investigated. In all the cases there was a multifocal loss of myelin in the peripheral nervous system with axon degeneration of various degree. Macrophages always took part in demyelination sometimes followed by lymphocytic infiltration. Ultrastructural investigation of nerve biopsies from 6 patients with GBS showed macrophage-associated demyelination with little or no lymphocytic infiltration. It is likely that axonal damage revealed in the biopsies and at the autopsies occurs as secondary consequence of demyelination.

[Hypertensive angio-encephalopathy and vascular dementia]. / Gipertonicheskaia angioéntsefalopatiia i sosudistaia dementsiia.

A clinicomorphological analysis of 60 postmortem cases with brain circulation disturbances against the background of arterial hypertension (AH) is performed. Lacunar infarcts, areas of incomplete necrosis and perivascular encephalolysis, small hemorrhages, criblures, persistent oedema and widespread spongiosis are found in the white matter (WM) of the brain in cases of AH of long duration with dementia. An important role in the WM lesions belongs to its ischemia due to hypertension angiopathy and disturbances of hemodynamics and liquor circulation. Complex of these lesions is called "hypertension leucoencephalopathy".

[Inclusion body myositis: its clinico-electrophysiological and morphological diagnosis]. / Miozit s vkliucheniiami: kliniko-élektrofiologicheskaia i morfologicheskaia diagnostika.

The paper reports three cases of myositis. The findings at detailed electroneuromyographic, morphologic and ultrastructural tests were indicative of characteristic vacuole inclusions in the muscular fibers. Two patients had associated neuritic disorders diagnosed neurophysiologically and morphohistochemically. The neuritic component proved aggravating in the course of the disease. Diagnostic myographic and morphological criteria are analyzed which can distinguish myositis with inclusions from other muscular inflammatory disease.

[Morphologic changes in the skin and superficial temporal arteries in Sneddon's syndrome]. / Morfologicheskie izmeneniia v kozhe i poverkhnostnykh visochnykh arteriiakh pri sindrome Sneddona.

Skin biopsies from livedo's areas of 25 patients and fragments of superficial temporal arteries of 10 patients with Sneddon's syndrome were examined. Pathological changes in the dermis arteries of small and medium calibers were found in the form of the intima hyperplasia, proliferation of vascular wall cell elements (80%), arterial thrombosis (with diameter of 60-200 microns). These changes were found in 68% of observations when clinical and morphological signs of vasculitis were lacking. "Arteriopathy" is the most appropriate term for such lesions. Focal and diffuse fibro-muscular elastic hyperplasia of the intima and muscular layer fibrosis in the wall of superficial temporal arteries may be considered as age-associated lesions. Ultrastructurally, a selective damage of the non-adrenergic part of the nervous apparatus of the dermal arteries and superficial temporal arteries were observed; this suggests the participation of the damaged vascular neurogenic regulation in the formation of organic vascular changes.

The role of short-term hypobaric hypoxia in prevention of disorders of the cerebral circulation in rats during acoustic stress.

The 2 h influence of the 'altitude' of 5000 m on the genetically epilepsy-prone rats of the KM line reduces the death rate and the extent of neurological changes (the frequency and severity of motion disorders and the development of intracranial haemorrhages) under the conditions of acoustic stress.

[Effect of short-term adaptation to hypoxia on the development of acute cerebral circulatory disorders in rats genetically disposed to epilepsy]. / Vliianie kratkovremennoi adaptatsii k gipoksii na razvitie ostrykh narushenii mozgovogo krovoobrashcheniia u krys, geneticheski predraspolozhennykh k épilepsii.

The exposure of KM rats genetically predisposed to autogenic convulsive fits, to hypobaric hypoxia had a protective effect on the extension of cerebrovascular disorders in conditions of acoustic stress, reducing the severity of motor disorders and the degree of intracranial hemorrhage (subdural, subarachnoidal, intraventricular).

[Hypertensive angiopathy of the brain]. / Gipertonicheskaia angiopatiia golovnogo mozga.

Cerebral vessels were studied by light microscopy in 20 autopsies after hemorrhagic stroke from arterial hypertension. Primary (acute), secondary (reparative) changes, as well as changes reflecting compensatory-adaptive processes, were found in the intracerebral and superficial arteries of the brain. The whole complex of these vascular changes was defined as hypertonic angiopathy. The usage of such terms as "angiopathy" and "combined angiopathy" were discussed. Criteria of morphologic diagnosis of angiopathies were proposed.

[Experimental arterial microanastomoses]. / Izuchenie arterial'nykh mikroanastomozov v éksperimente.

The morphological changes in the walls of 40 arterial microanastomoses were studied in experiments. The initial signs of endothelization appear in 3 days and the process ends by the 9th-12th day. The tissue reaction to the different suture material is of the same type and its degree is not linked with the type of synthetic thread used. Minimum injury inflicted to the intima and the other coats of the vascular wall and pre- and postoperative use of acetylsalicylic acid are measures preventing occlusion and stenosis of the anastomosis.

[Hypertonic angioencephalopathy in its pathomorphological aspect]. / Gipertonicheskaia angioéntsefalopatiia v patomorfologicheskom aspekte.

This is a report on 20 autopsies of patients with arterial hypertension and atherosclerosis who died of a hemorrhagic stroke. Morphological changes characteristic of hypertonic angioencephalopathy were detected in the intracerebral vessels and cerebral substance. They included plasmorrhagia with arterial stenosis and necrosis, miliary aneurysms, isolated necrosis of the pia mater attended with vascular deformation, complete and incomplete necrosis of the cerebral substance, gliomesodermal cicatrices, perivascular hemorrhages, lacunar infarctions at various stages of their progression, etc. The pathomorphological classification of cerebral circulation impairments has thus incorporated an additional notion "hypertonic angioencephalopathy".

[Morphology of primary and secondary hemorrhages into the brain stem]. / Osobennosti morfologii pervichnykh i vtorichnykh krovoizliianii v stvol mozga.

On the basis of morphological examinations of 5 cases of primary and 15 cases of secondary hemorrhages to the brain stem histological characteristics of those hemorrhages are presented. A high frequency of preceding disorders of the brain stem circulation in the forms of infarctions at various stages of development, perivascular hemorrhages and cysts due to changes (mostly of hypertensive origin) in the cerebral arterie is noted. These changes are regarded as factors promoting the spreading, and, possibly, the development of primary hemorrhages to the stem, as well as aggravating the degree of the circulatory impairment when the pathological focus develops in the supratentorial space of the brain.