[Genetic aspects of speech disorders in children]. / Geneticheskie aspekty narushenii rechi u detei.

Speech disorders still remains one of the cornerstones of pediatric neurology. Against the backdrop of gene diagnostic development, there are a huge amount of information about the role of genetic and chromosomal abnormalities in pathogenesis of speech disorders. In present article authors presenting an actual data on genetic basis of different types of speech disorders. Moreover, authors describing a clinical case of a patient with genetically determined developmental disorder, caused by KMT5B mutation validated by Sanger method.

[Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome]. / Redkie varianty narusheniya rechi u detei: vrozhdennyi bilateral'nyi perisil'viarnyi sindrom.

This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay, intellectual disorders, epilepsy and bilateral perisylvian polymicrogyria. Pseudobulbar paralysis and orofacial muscles dyspraxia causing drooling and feeding difficulties are common for patients with CBPS. Communicational problems lead to low self-esteem and social maladaptation. Literature data regarding correlation between polymicrogyria topography and speech disorders and articulation impairment severity are presented. The results demonstrate the association of diffuse spreading of bilateral polymicrogyria and more severe speech disorders comparing to mild speech disorders in patients with more local polymicrogyria. Known etiology factors of this syndrome are bilateral cerebral hypoperfusion, brain damage while neuronal migration period, postmigrational vascular insults and gene mutations. Syndrome can be inherited in autosome dominant and X-linked manner. Speech apraxia with normal impressive speech, refractory epileptic seizures and status dysraphicus must be red flags for a physician regarding this syndrome. Overnight video-EEG monitoring and brain MRI confirm a thesis that this syndrome is underdiagnosed in everyday clinical practice.

[Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report].

The article presents a description of a patient with chronic HCV infection and multiple extrahepatic manifestations, which manifested in dynamics and were recorded with a different sequence during 15 years of follow-up. In the patient we observed, the most frequently recorded extrahepatic manifestations were verified: porphyria cutanea tarda, mixed cryoglobulenemia, and utoimmune thyroiditis. Chronic HCV infection is often diagnosed in the presence of psoriasis was assessed as a paraneoplastic disease.

Phenotypical Characteristics of Chemically Induced Mammary Tumor.

The histological and immunohistochemical type of chemically induced (injection of N-methyl-N-nitrosourea into the mammary gland) breast tumor was studied in Wistar females. The tumor induced by N-methyl-N-nitrosourea was moderately differentiated adenocarcinoma with infiltrative growth lacking estrogen-α and human epidermal growth factor receptors, and expressing progesterone receptors; tumor cells were characterized by high proliferative activity. This variant of chemically induced breast tumor corresponds to human breast cancer luminal type B.

Cytokine-producing function of human blood cells in chronic atrophic gastritis and gastric adenomas and adenocarcinomas.

The cytokine-producing potential of blood cells has been studied in the atrophic gastritis-adenoma-adenocarcinoma progression of pathological states of the stomach. It has been revealed that, at the initial stage of carcinogenesis, namely adenoma, immunocompetent cells have the highest cytokine-producing proto-oncogenic potential as compared to both atrophic gastritis, which presents a precancerous condition, and completely formed malignant tumor (gastric adenocarcinoma).

[The relationship between concentrations of pepsinogens in blood serum and pathohystologic parameters of stomach adenomas and adenocarcinomas].

The article demonstrates that in patients with adenomas of stomach the concentration of pepsinogen I in blood serum and the rate between pepsinogen I and pepsinogen II is decreased. In case of adenomas and adenocarcinomas of stomach the concentration of pepsinogen I and the rate between pepsinogen I and pepsinogen II are in inverse correlation relationship with indicators of proliferative activity of epithelial cells and tumor cells correspondingly. The threshold level was the rate between pepsinogen I and pepsinogen II can be used as criteria of intensity ofproliferative activity of epithelial cells of adenomas and cells of adenocarcinomas of stomach.

[Comparative characteristics of porphyrins metabolism in chronic viral diseases of the liver].

AIM: To study porphirin metabolism in chronic viral infections of the liver. MATERIAL AND METHODS: The examination of 101 patients with hepatic viral infections diagnosed chronic HCV-infection in 30 patients, chronic HBV infection in 25 patients and combined infection in 6patients. Patients with chronic alcohol intoxication were not included in the trial. Urinary uroporphirin and coproporphirin (CP), fecal protoporphirin and CP were estimated. Total porphirines were calculated. RESULTS: 29 patients with chronic viral hepatitis had no porphirin disbolism. The latter (elevation of porphirine fractions in the urine and/or feces) was detected in 11 (84.6%) of 13 patients with hepatic cirrhosis (HC). Biochemical syndromes of elevated fecal porphirines, secondary coproporphirinuria, chronic latent hepatic porphiria were developing. The above disorders progressed with aggravation of the disease severity. In manifest late skin porphiria chronic HCV infection was detected in 19 (32.2%) of 59 patients. CONCLUSION: In non-alcoholic patients with chronic diffuse diseases of the liver of viral etiology nonspecific disturbances of porphirine metabolism develop at the stage of arising HC and are registered more frequently in the presence of chronic HBV-infection. Frequent combination of chronic HCV-infection with manifest late skin porphiria suggests a trigger role of HCV initiating specific disbolism of porphirines in this disease.

Proliferation of Walker 256 carcinosarcoma cells: effect of whole-body hyperthermia and antitumor agents.

We studied the main biological characteristics of spontaneous growth of Walker 256 carcinosarcoma and under conditions of antitumor therapy. A combination of whole-body hyperthermia and cytostatic treatment (cyclophosphamide and melatonin) produced maximum suppression of the tumor growth, inhibition of mitotic activity of tumor cells, and stimulation of their necrotic and apoptotic death. The maximum decrease in mitotic activity of tumor cells was observed after combined exposure to whole-body hyperthermia and both cytostatic preparations; enhancement of apoptotic cell death and the decrease in the tumor node weight were also most pronounced under these conditions and practically no body weight loss was recorded in this case.

[Humoral factors of immunity and the mononuclear cell responses to fetoproteins in patients with pulmonary tuberculosis].

The content of cytokines, the levels of antibodies (Ab) to proinflammatory cytokines and fetoproteins (FP) in serum, as well as the effects of fitohemagglutinin and FP on the level of cell production of cytokines into the conditioned medium were studied in relation to the pattern of a response of mononuclear cells (MNC) to FP. With the positive reaction of MNC to FP, estimated by an increment of CD9* cells and detectable in grades 2-3 dysplasias, the anti-inflammatory effect with lower anti-inflammatory cytokines was shown to be achieved due to elevated Ab levels, which may compensate for the low content of IL-4 and IL-10. With FP, there was an increase in the cell production of IL-10 that is known to stimulate antibody formation in the early phase of tumor growth, as evidenced by the association of the levels of Ab to FP with the grade of dysplasia.

[Surgical aid to military men of internal troops and staff of Ministry of Internal Affairs of Russia wounded during contra-terrorist actions on Northern Caucasia].

The 4-years experience of medical supporting of a wide-ranging contra-terrorist action (2000-2003) has conclusively demonstrated an exact correlation between intensity of battle actions and scales of sanitarian losses, between character of battle actions and structure of sanitarian losses, between steps, passed by wounded and results of treatment. In offensive operations dominated single gunshot wounds. In these conditions was marked a high frequency of chest case, of hurts of venter and hip joint. In conditions, when territory is already occupied and the opponent began a "landmine" war,dominate fragment and multiple wounds. In the same phase of war frequency of conjoined and combinated hurts rise, the same as hurts of legs. In conditions of battle actions in structure of viscerogenic pathology the first place is occupied by diseases of respiratory system, of blood circulatory system and urogenital system.

[Organization of medical care in specialized medical aid group in the Interior Forces of the Ministry of Internal Affairs of Russia in different variants of their practice].

Medical troop of single-purpose (MTSP) and it's capabilities are examined in different variants of it's using in conditions of providing of immense antiterrorist acts. Setting tasks, opportune and corresponding operational environment, let use the MTSP all-out in 3 variants: classifying-evacuation hospital, field mobile hospital and medical batch for reinforcement Separated Medical Battalion. High effectiveness of the MTSP's activity is reached in consequence of it's reinforcement by qualified personnel from MMCH of Internal Troops of MIA, of wide using of aerotransport with medical equipment and using of reanimation brigade on the board, of uninterrupted providing by the blood and it's constituents. Locomotivity and efficiency of work were provided by the presence of modern well-equipped modules on wheels.

[Porphirin metabolism in non-alcoholic steatohepatitis].

AIM: To study porphirin metabolism in non-alcoholic steatohepatitis (HASH). MATERIAL AND METHODS: The trial enrolled 66 patients with verified diagnosis of HASH. Patients with chronic viral hepatitis and chronic alcohol intoxication were not included in the trial. Aminolevulinic acid (ALA), porphobilinogen (PBG), uroporphirin (UP) and coproporphirin (CP) were assayed in urine, protoporphirin (PP) and CP--in the stool. Total content of porphirins and proportions CP/UP and PP/CP were estimated. RESULTS: 17 patients had normal total porphirin excretion with urine but high levels of ALA, PBG, UP fraction, changed fractions proportion. 21 patients had high content of urinary and fecal porphirin fractions. Biochemical syndromes of high fecal porphirin concentration, secondary coproporphirinuria, chronic latent hepatic porphiria were under development. The above disorders were associated with carbohydrate, lipid and iron disbolism. In porphirin disbolism histological signs of liver fibrosis occurred more frequently. 56 (84.8%) patients had signs of metabolic syndrome. CONCLUSION: Disorders of porphirin metabolism in HASH patients are characterized by many nonspecific abnormalities and metabolic disturbances. Patients with different variants of porphirin disbolism developed hepatic fibrosis more frequently.

[Adenocarcinoma of the stomach: clinical and immunologic features]. / Adenokartsinoma zheludka: kliniko-immunologicheskie osobennosti.

Lower natural killer cells activity (NKCA), varying stage of anemia and in vitro depressed colony-forming ability of committed precursors of hemopoiesis were identified in 50 gastric cancer patients. The patients with different patterns of the vegetative nervous system had tumors with a range of adenocarcinoma cell differentiation. A relationship was established between anemia stage, colony-forming ability of committed precursors of hemopoiesis, on the one hand, and vegetative nervous system pattern, stage of tumor cell differentiation and, to a less extent, NKCA, on the other.

[Surgical tactics in complicated forms of acute purulent pyelonephritis in pregnancy]. / Operativnaia taktika pri oslozhnennykh formakh ostrogo gnoinogo pielonefrita beremennykh.

Out of 3000 pregnant women observed in 1986-1999, pyodestructive forms of pyelonephritis were diagnosed in 120 women. They were treated surgically. The policy of the treatment depended on the degree of pyoseptic intoxication, severity of toxic affection of the parenchymatous organs, severity of pyodestructive changes in the kidney. Plasmapheresis expanded indications to organ-saving operations, effectively and quickly arrested purulent intoxication. Various organ-saving operations have been successfully performed in 77(64.1%) pregnant women. In 12 patients nephrostomy was uneffective. In these patients a second nephrectomy was made. Primary nephrectomy was made in 37 cases of life-threatening pyoseptic intoxication. Hard to treat bilateral pyodestructive forms of pyelonephritis were detected in 15(12.5%) women. Bilateral nephrostomy with cleaning of purulent infection foci was effective in 9 patients. It is shown that early surgical detoxication of the most affected kidney prevents development of extended pyodestructive alterations in the contralateral kidney and avoid surgical intervention.

[The adequacy of patient protection from surgical trauma under spinal anesthesia]. / Adekvatnost' zashchity bol'nykh ot operatsionnoi travmy v usloviiakh spinal'noi anestezii.

Efficiency of various methods of anesthesia in prevention of the CNS segmented structures hyperreactivity induced by surgical trauma ware studied in 554 patients during planned orthopedic operations and operations on the pelvic organs. Spinal anesthesia played the crucial role in prevention of induced hyperreactivity of nociceptive neurons of the posterior spinal horns. A notable alleviation of postoperative pain in patients operated on under spinal anesthesia was a clinical confirmation of this fact. Analysis of the time course of the amplitudes of the control and test H-reflexes before and after the intervention showed that spinal anesthesia largely prevented perioperative changes in the spinal neuromotor stimulation and, from this viewpoint, can be regarded as the optimal method of anesthesia in surgery on the lower part of the trunk.

[Prevention of postoperative pain: pathogenetic bases and clinical aspects]. / Profilaktika posleoperatsionnoi boli: patogeneticheskie osnovy i klinicheskoe primenenie.

The trial aimed at development of pathogenetically sound complex of therapeutic measures to prevent postoperative pain or relieve it significantly included 1912 patients after elective surgical interventions on the lower part of the body. It is shown that basic factors in postoperative pain prevention are the following: a) adequate relief of preoperative pain syndrome; b) use of spinal or spinal-epidural anesthesia as the leading anesthesia method; c) preoperative epidural administration of opioid analgetic drugs; d) pre-, intra- and postoperative administrations of drugs affecting N-methyl-D-aspartate-receptors (ketamine, magnesium sulphate) as well as inhibitors of kininogenesis and prostaglandinogenesis. The success lies in a multimodality approach to prevention of postoperative pain syndrome, i.e. maximal eradication of all the factors promoting onset of pain during pre-, intra- and postoperative period with a simultaneous impact on peripheral and central mechanisms of acute pain. Such an approach resulted in a complete prevention of postoperative pain in 46.2% patients while the rest patients had much less intensive pain.

[The surgical treatment of suppurative destructive forms of acute pyelonephritis in pregnant women]. / Operativnoe lechenie gnoino-destruktivnykh form ostrogo pielonefrita beremennykh.

The paper presents the results of surgical treatment of pyodestructive pyelonephritis diagnosed in 111 puerperae and gravidae. Suppurative nephritis, carbuncle and abscess of the kidney ran as unilateral (94 patients, 84.7%) or bilateral (16 patients, 14.4%) process. The diagnosis of pyodestructive pyelonephritis of the solitary kidney was made in 1 gravida. The outcomes of pyodestructive pyelonephritis in puerperae and gravidae depend primarily on individual approach to therapy. Different operative interventions warranted a complete response in 97.3% of the gravidae. 96 of 108 gravidae operated on the kidneys delivered viable neonates. Early operative interventions in many cases preserved the kidney and prevented septic complications. Pyodestructive changes restricted to 1-2 segments of the kidney were effectively treated by nephrostomy. Bilateral pyodestructive pyelonephritis should be managed step-by-step starting at the side of the most evident symptoms. Two-stage bilateral lumbotomy with nephrostomy in combination with antibacterial therapy and plasmapheresis eliminated septic complications thus allowing normal development of the fetus. Nephrectomy is the best treatment in advanced pyodestructive lesion with severe life-threatening septic intoxication.