Saratov JOURNAL of Medical and Scientific Research

Case report

Clinical case of the manifestation of Parkinson's disease in a patient with neuro-leptic-induced parkinsonism

Year: 2019, volume 15 Issue: №1 Pages: 199-202
Heading: Neurology Article type: Case report
Authors: Yudina V.V., Makarov N.S., Yudina G.K.
Organization: Saratov State Medical University
Summary:

The article presents data on the mechanisms of development of drug-induced parkinsonism in patients taking neu-roleptic drugs, as well as on specifics of the development of Parkinson's disease in these patients. A clinical case of Parkinson's disease development in a patient with drug-induced parkinsonism who has been taken antipsychotics for a long time is described.

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Idiopathic syringomyelia with involvement of all segments of spinal cord

Year: 2019, volume 15 Issue: №1 Pages: 180-182
Heading: Neurology Article type: Case report
Authors: Sergeeva А.А., Serebrennikov N.A.
Organization: First City Clinical Hospital n.a. E.E. Volosevich of Arkhangelsk, Northern State Medical University
Summary:

Syringomyelia is a chronic disease with multiple etiologies characterized by a progressive development of longitudinal cavities within spinal cord, which are filled with cerebrospinal fluid or a liquid of similar composition. Etiologically syringomyelia is most often associated with type 2 Chiari malformation. One of the least common variants is an idiopathic syringomyelia. The article describes a rare clinical case of idiopathic syringomyelia with involvement of all spinal cord segments and the outcomes of its surgical treatment using syringo-subarachnoid shunting techinque.

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Characteristics of clinical findings and diagnostics of acute cerebral venous circulation disorder in immediate period following neurosurgical intervention for peripheral lung cancer metastasis into brain

Year: 2019, volume 15 Issue: №1 Pages: 67-71
Heading: Traumatology and Orthopedics Article type: Case report
Authors: Bazhanov S.P., Ulyanov V.Yu., Matveeva O.V., Tolkachev V.S., Shuvalov S.D.
Organization: Saratov State Medical University
Summary:

A rare case of cerebral venous circulation disorder in a female patient with peripheral cancer metastasis of the right lung upper lobe to the area of precentral and postcentral gyri of the left cerebrum hemisphere in the immediate post- surgical period is present. It has been shown that the diagnostics of impaired circulation throuth the superficial cerebral veins is rather complicated due to the lack of clinical symptoms specificity and poor sensitivity of neurovisualization methods.

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Congenital megakaryoblastic leukemia: A clinical case

Year: 2019, volume 15 Issue: №1 Pages: 34-40
Heading: Pediatrics Article type: Case report
Authors: Nechaev V.N., Chernenkov Yu.V., Mishina O.A., Fedorova Yu.A., Averyanov A.P.
Organization: Clinical Perinatal Center of the Saratov Region, Saratov State Medical University
Summary:

Leukemia in children (leukemia) is a systemic hemoblastosis, accompanied by a violation of bone marrow hemato- poiesis and replacement of normal blood cells with immature blast cells of the leukocyte series. Acute megakaryoblastic leukemia-one of the rarest forms of acute leukemia (1-3% of all leukaemias), which is characterized by the presence in the blood and bone marrow, along with undifferentiated blasts also megakaryoblasts, ugly megakaryocytes and platelet clusters. The work presents a clinical case of congenital acute megakaryoblastic leukemia in the child S., combined with the mosaic form of Down syndrome and a congenital heart defect.

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Rod-cone dystrophy with mutation in GUCY2D gene (clinical case)

Year: 2018, volume 14 Issue: №4 Pages: 928-931
Heading: Ophtalmology Article type: Case report
Authors: Zolnikova I.V., Kadyshev V.V., Zinchenko R.A., Egorova I.V.
Organization: Moscow Helmholtz Research Institute of Eye Diseases, Research Centre for Medical Genetics
Summary:

The cinical case of rod-cone dystrophy (retinitis pigmentosa sine pigmento) in a patient with mutation in GUCY2D gene is described Mutations in GUCY2D gene are the common cause of Leber Congenital Amaurosis (LCA1, OMIM 204000), central areolarchoroidal dystrophy (CACD1 OMIM 215500), mutations in heterozygous, compound heterozygous and homozygous state are described in cone dystrophy CORD6 (OMIM 601777), but have not been described in rod-cone dystrophy. In patient who complained of nictalopia decrease of the best corrected visual acuity to 0.7 OD and 0.9 OS was revealed. Maximal electroretinogram was subnormal, which indicated decrease in the function of peripheral retina. 30 Hz flicker and macular ERG were within normal range. Not described previously as pathogenic variant of nucleotide sequence in exon 11 of GUCY2D gene (chrl 7:7916486G>A), causing missense mutation (p. Gly727Ser, NM_000180.3) in heterozygous state in patient was revealed. Thus we are first to describe genotype-phenotype associations of rod-cone degeneration with mentioned above pathological in GUCY2D gene.

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Bilateral acute generalized uveitis with Vogt-Koyanagi-Harada Syndrome

Year: 2018, volume 14 Issue: №4 Pages: 886-891
Heading: Ophtalmology Article type: Case report
Authors: Latypova Е.А.
Organization: Bashkir State Medical University of the Russian Health Care
Summary:

This study presents a case of bilateral generalized uveitis with exudative retinal detachment and Vogt- Koyanagi-Harada syndrome with a severe fulminant course in 27 year-old man with underlying neurological manifestations and hearing loss. The delayed diagnosis of the disease led to the rapid development of the late stage of uveitis with depigmentation of the fundus in the form of the "setting sun", persistent reduction of vision and complications with development of cataract, ophthalmic hypertension, epiretinal synechia and relapses. High-dose corticosteroids and immunosuppressive therapy allowed to achieve a positive effect and partially restore visual functions. Uveitis with a symmetrical lesion in both eyes is often an ophthalmological manifestation of systemic diseases. When it develops in individuals with darker skin pigmentation it is necessary to bear in mind the Vogt- Koyanagi-Harad syndrome.

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Aggressive posterior retinopathy of prematurity in a child conceived by in vitro fertilization

Year: 2018, volume 14 Issue: №4 Pages: 882-885
Heading: Ophtalmology Article type: Case report
Authors: Latypova E.A., Somova A.B., Matryuk D.I., Abdrakhmanova Yu.A.
Organization: Bashkir State Medical University of the Russian Health Care, «Republican Children's Clinical Hospital», Ufa
Summary:

Aggressive posterior retinopathy of prematurity (AP-ROP) is the most severe form ofretinopathy of prematurity (RP), characterized by early onset, fulminant course with absence of stagingand resistance to treatment. Today, the increase in AP-ROPincidence is associated with the changing standards for nursingof severely premature infants and wideprevalence of assisted reproductive technology — in vitro fertilization (IVF). The article presents a clinical case of aggressiveposterior retinopathy of prematurity in a girl with agestational ageof 25 weeks and a birth weightof about 860 grams who was conceived by IVF. Medical and high-tech laser treatment, fullycarried out in time, has lead toregression of this disease, which mayallowto preserve and develop visual function.

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Disruption of the microcirculation of the retinal macular zone in a patient who had hemorrhagic fever with renal syndrome according to OCT-angiography of the macula

Year: 2018, volume 14 Issue: №4 Pages: 880-882
Heading: Ophtalmology Article type: Case report
Authors: Aznabaev ВМ, Batyrshin RA, Aleksandrov АА, Idrisova LR, Khakimova NP.
Organization: Bashkir State Medical University of the Russian Health Care
Summary:

The article presents the results of a standard diagnostic examination and a description of the impaired microcirculation of the macular retinal area according to optical coherence tomography angiography (ОСТ angiography) in a patient who had hemorrhagic fever with renal syndrome. The survey revealed a violation of the microcirculation of the macula in the form of a decrease in perfusion of the inner layers of the retina. This diagnostic method allows objectively, quickly and without contact to assess the state of the microcirculation of the macula in persons who have had hemorrhagic fever with renal syndrome, and can be recommended for assessing the effects of the disease and preventing complications from the organ of vision.

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Central retinal vein thrombosis in a patient with newly diagnosed congenital thrombophilia

Year: 2018, volume 14 Issue: №4 Pages: 872-875
Heading: Ophtalmology Article type: Case report
Authors: Latypova E.A., Zagidullina A.Sh., Yamlikhanov A.G., Arslanova A.l., Nugmanova A.R.
Organization: Bashkir State Medical University of the Russian Health Care, City clinical hospital 10 Ufa
Summary:

To date the etiology and pathogenesis of retinal vein thrombosis have not been fully studied despite a large body of scientific research. The article describes a rare clinical case of central retinal vein thrombosis in a 52-year-old man with newly diagnosed congenital thrombophilia.

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Effectiveness of neure-protective therapy in patients with glaucoma

Year: 2018, volume 14 Issue: №4 Pages: 828-831
Heading: Ophtalmology Article type: Case report
Authors: Aprelev А.Е., Barbos Yu.A., Mukhanko I.Zh., Cherednichenko N.L., Abdulgazizova Z.F., Kataganova A.A., Bernovskaya A.A.
Organization: Mineralovodsky district hospital, Orenburg Regional Clinical Hospital, Orenburg State Medical University, Regional Clinical Diagnostic Center in Stavropol City, Stavropol Regional Clinical Hospital, Stavropol State Medical University
Summary:

The results of clinical evaluation of three patients who were included in the multicenter study of the
effectiveness of neuroprotective treatment and its impact on the quality of life of patients with POAG are
presented in the article. Dynamics of visual acuity, intraocular pressure, total visual fields, photostress
test, contrast sensitivity and quality of life (according to the NEIVFQ-25 questionnaire) in patients
treated with neuroprotective study drug with 10 intramuscular injections administered 5mg once a day
are presented. Data on the improvement of visual functions and quality of life in patients with Stage I, II
and III of POAG who had undergone treatment with the study drug are demonstrated.

Keywords: quality of life
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