Научная статья на тему 'Marfan syndrome and its genealogic characteristics'

Marfan syndrome and its genealogic characteristics Текст научной статьи по специальности «Клиническая медицина»

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MARFAN SYNDROME / GENEALOGIC SIGNS / OPTIC MANIFESTATIONS / CHILDREN

Аннотация научной статьи по клинической медицине, автор научной работы — Tashpulatova Arofat Ziyavutdinovna

Marfan syndrome is met in 62% of each generation of pedigree and it is called vertical transfer of the disease. Correlation of sick and healthy persons is about 1:1. Sick men and women have similar transmission rate of the disease to their children. In 26.1% of the patients alterations of the organ of vision was the single symptom of Marfan disease, besides genetic tests.

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Текст научной работы на тему «Marfan syndrome and its genealogic characteristics»

Figure 4. The rat's stomach. (1000 mcW/cm2 RFEMR, 3 months) Deformation and partial destruction of the micro-villi of the gastric fundus fold. Signs of hypotrophy with atrophy sites (h-e., 10x16).

Figure 5. The rat's small intestines. (1000 mcW/cm 2 RFEMR, 3 months), the thinned apical layers and the destroyed intestinal villi. Destruction with expressed hypotrophy and atrophy sites in the apical layers (h-e., 10x16)

In the cardiovascular system, there were also marked considerable morphological and functional changes aggravating in the process of an increase in the RFEMR dose and duration of its impact. Micro-vascular impairment, in our opinion, is the critical fac-

tor in the expression of structural manifestations both in acute and chronic RFEMR impact on the organs and tissues.

Thus: The RFEMR impact is manifested by pathological changes in the structure of the majority of organs and tissues.

References:

1. Betsky O. B, Lebedev N. N. Current conception on the mechanisms of low-intensity millimeter waves on biological objects//Millimeter waves in biology and medicine. - 2001. - 3 (24). - P. 5-19.

2. Grigorev J. G., Trukhanov K. A., Vasin A. L. Some problems of biological action of electromagnetic fields//Electromagnetic fields and human health/Ed.:. Prof. J. G. Grigorev. - Moscow: Publishing house RUDN, 2002. - P. 124-140.

3. Goryachev A. N., Novochadov V. V., Pisarev V. B. The correlation analysis of morphometric indicators of the liver and vegetative structures in chronic endotoxicosis/J. Advances of current natural sciences. Issue № 2. - 2005.- P. 36-37.

4. Subbotin T. I. Experimental research on the impact of high-frequency not-thermal electromagnetic radiation on reproductive functions of mice//Bulletin of new medical technologies. - 2006. - V XIII, № 1. - P. 154-155.

5. Berman. E, Carter H.B, House D. Observations of rat fetuses after irradiation with 2450-MHz (CW) microwaves//J. Microwave Power. 1981. - Vol. 16, № 1. - P. 9-13.

Tashpulatova Arofat Ziyavutdinovna, Senior scientific assistant, applicant of the Department of ophthalmology and children's ophthalmology, Tashkent Pediatric Medical Institute

E-mail: mbshakur@mail.ru

Marfan syndrome and its genealogic characteristics

Abstract: Marfan syndrome is met in 62% of each generation of pedigree and it is called vertical transfer of the disease. Correlation of sick and healthy persons is about 1:1. Sick men and women have similar transmission rate of the disease to their children. In 26.1% of the patients alterations of the organ of vision was the single symptom of Marfan disease, besides genetic tests.

Keywords: Marfan syndrome, genealogic signs, optic manifestations, children.

Among all hereditary diseases of connective tissue the great- Marfan syndrome as the life duration of these patients is limited est interest for pediatricians and general practitioners is caused by by 30-40 years [3; 4]. That disease with autosomal-dominant type

Marfan syndrome and its genealogic characteristics

of inheritance, which is included to the group of hereditary fibrilli-nopathies, hereditary pathology of connective tissue with alterations of skeleton, eyes and cardiac vascular system [6].

Marfan syndrome is a hereditary disease characterized by lesion of connective tissue. In Marfan syndrome connective tissue has defects displayed in pathologies of various systems of an organism including skeleton, eyes, blood vessels, nerve system, skin, lungs, etc. [2; 5]. Marfan syndrome is met among human of all races and various ethnic groups, both in men and women. It is a quite rare disease met approximately in 1 of 5000 people. The researchers revealed that the disease is conditioned by mutation of fibrillin gene in the 15th chromosome. That mutation leads to abnormalities in the secretion and structure of fibrillin [1; 6].

About in 75% cases gene ofMarfan syndrome is transmitted to children from their parents who have that disease. The type of inheritance is autosomal-dominant, and that means that a child born by the parents having Marfan syndrome in 50% cases will inherit it (Kainulainen K.et all,). Authors state that in 25% cases none of the parents have the disease. Genetic mutations provoked by Marfan syndrome appear spontaneously in oocyte or spermatozoid at the moment of impregnation. The reason of its appearance is not clarified yet, but the children born with that mutation in 50% cases possibly transmit that disease to their children [3; 6].

It is established that in 90% of all Marfan syndrome cases there were no difficulties in diagnostics, as a rule. Though in 10% cases diagnostics was difficult [2; 5]. In these cases it is especially important to perform detailed examination of the maximal number of patient's relatives. The check up program for these families should include consultations, ophthalmologic and cardiologic examinations and echocardiography.

The objective of that research was to study genealogic symptoms of Marfan syndrome.

Materials and methods of the research: for the detection of heredity rate of Marfan syndrome genealogic method was used for checking of 115 first relation degree relatives (parents, sibs) of the children suffering Marfan syndrome (23 patients). We composed a detailed pedigree including the data of diseases in 2-3 generations of a family. Genetic material was collected in both parents' lines by means of cross interview of both parents, sometimes grandmothers and grandfathers.

Results of the research: diseases with autosomal-dominant type of inheritance including Marfan syndrome are characterized by fact that for the development of the disease it is enough just to inherit mutant allele from one of the parents. The majority of diseases of that type are characterized by pathologic state which do not cause serious damage for human health and mostly do not affect ability to have children.

Thus, according to the obtained data in the analysis of pedigrees we noted that 72% had diseases of connective tissue both in mother's and father's lines. 54% of the relatives had registered injures of eyes and alterations in cardiac-vascular system combination. 62% of relatives in each generation had symptoms of Marfan syndrome. Among them in 26 families we observed 2 members with Marfan syndrome, in 18 families — 3 members and more.

56.6% of relatives with symptoms of Marfan syndrome had combinations of symptoms such as deformations of thoracic cage, vertebral column and various degrees of myopia. 48% of the relatives

with Marfan syndrome had combination of big height, alterations in eyes and cardiac-vascular system. In 32% cases there was subluxation + big height + arachnodactyly. In 17% we registered alterations in CNS such as convulsions together with clinical manifestations of that syndrome.

Thus, MS is observed in 62% of each generation of pedigree, and it is called vertical transmission of the disease. Correlation of healthy and sick family members was close to 1:1. Sick men and women have similar transmission of the disease to their children — boys and girls. The more severe is the effect of the disease on reproduction, the greater proportion of sporadic cases (mutations) is.

On the next stage we were interested in the problem of the effect of heredity to optic manifestations of MS among 23 examined children.

For the definition of the development of certain alterations in organ of vision in the patients with Marfan syndrome the children were divided to 2 groups. The first group included 9 children without heredity in family history (39.1%), and the second group 14 (60.9%) patients among which there was registered heredity of Marfan syndrome among relatives (parents, children or sibs) who were sick or had symptoms of Marfan syndrome.

In ophthalmologic tests of the patients of the first group with Marfan syndrome (18 eyes) we determined that acuity of vision was from 0.001 to 1.0; emmetropy was diagnosed in 5 eyes (27.8%); abnormalities of refraction were registered in 13 eyes (72.2%).

Among them in most cases there was myopic astigmatism — 5 eyes (38.5%), hypermetropia — 3 eyes (23.1%), myopia — 2 eyes (15.4%), hypermetropic astigmatism — 2 eyes (15.4%), mixed astigmatism — 1 eye (7.7%).

Amblyopia of various degrees was revealed in 6 eyes (33.3%). Internal optic pressure varied in the range 7.9-28.1 mm of mercury column, refraction power of cornea — 37.0-45.0 diopters, ectopy of crystalline lens was diagnosed in 2 eyes (11.1%), lesion of optic nerve in 3 eyes (16.7%), dry conjunctivitis in 10 eyes (55.6%).

In ophthalmologic tests of the patients of the second group (28 eyes) we determined that acuity ofvision was in the limits from 0.001 to 1.0, emmetropy was diagnosed in 8 eyes (28.5%), abnormality of refraction was detected in 20 eyes (71.4%). Among them: myopia in 5 eyes (25%), myopic astigmatism in 7 eyes (35%), hypermetropia in 2 eyes (10%), hypermetropic astigmatism in 4 eyes (20.0%), mixed astigmatism in 2 eyes (10%). Amblyopia ofvarious degrees was detected in 12 eyes (42.8%).

Internal optic pressure was from 7.1-43.5 mm of mercury column. Refraction power of cornea was from 38.5 to 44.5 diopters.

Ectopy of crystalline lens was diagnosed in 10 eyes (35.7%). Lesion of optic nerve was observed in 5 eyes (17.8%). Dryness of eyes caused by the pathology of water and mucin layer oflachrymal film was observed in 18 eyes, and it was equal to 64.3%.

Ectopy of crystalline lens is met in 35.7% of the patients with Marfan syndrome with family heredity, different from the patients of the 1st group, where ectopy was diagnosed in 11.1% cases.

Conclusions:

1. Prevalence of optic manifestations in Marfan syndrome is effected by heredity in family.

2. In 26.1% of the patients alteration of organ of vision was the only symptom of Marfan disease, besides genetic tests.

References:

1. Зербшо Д. Д., Ольхова О. В., Жураев Р. К. Синдром Марфана: кторичний ракурс i сучасний погляд на етюлогш, патогенез, дiагностику, клшжу та лжування//Украшський медичний часопис. - 2010. - № 6. - С. 97-100.

2. Bart L. Loeys, Harry C. Dietz, Alan C. Braverman, et al. The revised Ghent nosology for the Marfan syndrome//J. Med. Genet. -

2010. - Vol. 47. - P. 476-485.

3. Faivre L., Collod-Beroud G., Adis L., et. al. The new Ghent criteria for Marfan syndrome: what do they change?//Clin. Genet. - 2011. -

Vol.4. - P. 1-10.

4. Jondeau G., Michel J. B., Boileau C. The translational science of Marfan syndrome//Heart. - 2011. - Vol.97 (15). - P. 1206-1214.

5. Radonic T., de Witte P., Groenink M. et al. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome//Clin.

Genet. - 2011. - Vol. 2. - P. 324-329.

6. Sheikhzadeh S., Kade C., Keyser B. et al. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome//Clin.

Genet. - 2011. - Vol. 8. - P. 452-458.

Temirova Saodat Yorovna, Senior scientific assistant, applicant of SRI of Epidemiology, microbiology and infectious diseases of the MHC of the RUz.

E-mail: mbshakur@mail.ru

The values of cell-mediated immunity and antigen-conjugating lymphocytes in patients with Herpes viral injure of organ of vision

Abstract: The achieved results of the immunologic study of 54 patients with Herpes viral injure of eyes, among which there were 25 (46.3%) patients with primary apply because of pathology of organ of vision and 29 (53.7%) patients with chronic progressing of the disease, show the presence of deep secondary immune deficiency state with expressed misbalance of immune regulatory sub populations of lymphocytes and deep destructive alterations in the tissues of eyes. And that was indicated by high values of antigen-conjugating lymphocytes to tissue antigens of cornea, vascular membrane, crystalline lens and corpus vitreous.

Keywords: herpetic injuries of eyes, immunologic status.

Topicality. For health care system ophthalmic Herpes presents a serious problem not only because of its prevalence, but also as a result of severe complications. Clinical manifestations of eye Herpes are not studied well yet. In relation to this in many cases, on the basis of only clinical data without laboratory confirmation, that diagnosis can be stated just approximately [2; 5].

The necessity of herpetic infection diagnostics appears if there is no dermal or mucous syndromes. At the present time according to international standards three levels of diagnostics are used: I — definition G class antibodies, and if it is a new-born baby — immunoglobulin M (total) in umbilical blood in case of suspicion ofvertical transmission; II — definition of specific antibodies class M and cytologic test of the scrape; III — chain polymerase reaction method for definition of DNA of viruses in various bio substrates (blood, tear, cerebral-spinal liquor, amniotic water, bioptates) [4].

Like in other chronic diseases with persistence of virus, in cases of herpetic infection there is development of immune deficiency states conditioned by failure of various parts of immune system and its inability to eliminate the virus from an organism. Though virus neutralizing antibodies preserved for the whole life, sometimes in quite high titers, interfere the spread of infection, but do not prevent appearance of relapses [1]. With the progressing of immune suppression activation of the virus becomes more often.

According to literature and our own patients' follow up data herpetic injures of eyes differ by severe stable recurrent progress, often causing significant impairments of optic functions, reflection of which are immunologic disorders, for the restoration of which we need long-lasting and complex courses of therapy [3].

The objective of the study was definition of the character of organism's immune reaction dynamics and expression of pathologic alterations in the tissues of eye in ophthalmic Herpes.

Materials and methods. Immunologic studies were held in 54 patients with herpetic injures of eyes. 25 (46.3%) patients out of

the total number applied to a doctor with pathologies of organ ofvi-sion for the first time, the rest 29 (53.7%) patients had chronic progressing of the disease. 21 (72.4%) out of 29 patients with chronic progression of the disease had exacerbation of the disease 2-5 times within a year, and the rest 8 (27.6%) patients had 6-8 times of ophthalmic diseases exacerbations for the same period.

Assessment of immunologic status was performed in compliance with the recommendations of R. M. Khaitov (1996) and 1 level tests for T-cellular immunity according to the following values: amount of circulating T-lymphocytes and its main immune regulatory subpopulations of T-helpers and T-cytotoxic cells. phenotyp-ing of lymphocytes in peripheral blood was performed by means of indirect rosette-formation in compliance with the method of F. U. Garib et al. (1995). In the work we used commercial conjugates of MCAT produced by SRI of Immunology of the MHC of Russia (Moscow, "Sorbent" Ltd.): CD3, CD4, CD8 and CD20 (common pull of T-lymphocytes, T-helpers/inductors, T-cytotoxic cells and B-lymphocytes, respectively). We also calculated immune regulatory index (IRI) of CD4/CD8 correlation. Blood lymphocytes served to be material for the research.

Besides that, for the definition of the depth of eye injure we performed the study of antigen-conjugating lymphocytes specially sensitized for tissue antigens of cornea, crystalline lens, corpus vitreous and vascular membrane of the eye in the same patients.

Results and discussion. Comparative analysis of the cellmediated immunity dynamics in the patients with primary and recurrent ophthalmic Herpes showed the absence of significant differences between the values in these groups, correspondingly staying very reliably low in comparison with the control values. so, the patients with primary apply had 1.2 fold decrease of the total pull of T-lymphocytes (CD3+ lymphocytes), B -lymphocytes (CD20+ lymphocytes) and 1,4 fold decrease of IRI (immune

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