scholarly journals Wilson–Konovalov disease: acute onset, course, diagnosis and treatment (clinical case)

2021 ◽  
pp. 76-81
Author(s):  
Yu.I. Alekseeva ◽  
◽  
Ji. V. Turkin ◽  
О.B. Synoverskaya ◽  
L.Ya. Ivanyshyn ◽  
...  
Keyword(s):  
Clinical Picture ◽  
Clinical Case ◽  
Local Level ◽  
Acute Onset ◽  
Left Lobe ◽  
Diagnostic Methods ◽  
Laboratory Research ◽  
Disease Etiology ◽  
Research Institution ◽  
Body Tissues

The article presents information on the main etiology and pathogenesis of Wilson–Konovalov disease, as hepato-lenticular degeneration associated with excessive accumulation of copper in body tissues due to an inherited autosomal recessive defect of a protein that transports copper. A rare case of the onset and course of the disease in a patient who was examined and treated at the Ivano-Frankivsk Regional Children's Clinical Hospital is described. The main focus is on the acute, atypical onset of the disease, in particular the signs of severe intoxication syndrome caused by manifestations of hepatic encephalopathy, steroid-induced diabetes, anemia of complex genesis, coronavirus disease, pyoderma. The difficulties of diagnosing the disease against the background of delayed manifestation of the main pathognomonic manifestations and the absence of reliable signs of the disease are shown. The clinical picture of this clinical case, features of the course are described, the indicators of the main clinical and laboratory research methods are given, the results of instrumental diagnostic methods and genetic examination methods are shown, both in laboratories of Ukraine and abroad, which confirmed the diagnosis of Wilson–Konovalov disease. The treatment of this clinical case is described in detail not only at the local level but also in the main leading research institution of Ukraine «OHMATDYT» and «National Institute of Surgery and Transplantology named after O.O. Shalimov». Recommendations for further observation and treatment of the child at the place of residence after orthotopic transplantation of the left lobe of the liver from a living family donor. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Wilson-Konovalov disease, etiology, pathogenesis, clinical picture, diagnosis, examination, treatment.

Congenital optic disc coloboma

2021 ◽  
pp. 33-39
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Clinical Picture ◽  
Clinical Case ◽  
Charge Syndrome ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Optic Nerve Atrophy ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

Microcirculatory Changes in the Retina in Patient with COVID-19

2021 ◽  
pp. 46-49
Author(s):  
M.S. Krivosheeva ◽  
◽  
E.E. Ioyleva ◽  
Keyword(s):  
Macular Edema ◽  
Key Words ◽  
Retinal Vein Occlusion ◽  
Clinical Picture ◽  
Branch Retinal Vein Occlusion ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Pathological Changes ◽  
Renin Angiotensin Aldosterone System ◽  
Vein Occlusion

A clinical case of observation of a patient who had branch retinal vein occlusion with the development of macular edema, against the background of a moderate-severe course of COVID-19, was considered. The clinical picture and diagnostic methods necessary for the diagnosis are described. Some aspects of pathological changes in the organ of sight in COVID-19 are discussed. Key words: COVID-19, branch retinal vein occlusion, macular edema, renin-angiotensin-aldosterone system.

A case of congenital diffuse lipomatosis in ophthalmic practice

2021 ◽  
pp. 42-45
Author(s):  
E.E. Sidorenko ◽  
◽  
I.V. Sukhanova ◽  
Y.V. Taranova ◽  
◽  
...  
Keyword(s):  
Connective Tissue ◽  
Clinical Diagnosis ◽  
Clinical Picture ◽  
Congenital Malformations ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Diagnostic Measures ◽  
Appropriate Treatment ◽  
Childhood Form ◽  
Key Words Congenital Malformations

A clinical case of a childhood form of diffuse lipomatosis is considered. The clinical picture and diagnostic methods necessary for the establishment of a clinical diagnosis are reflected. When observing patients with diffuse lipomatosis, it is required to involve specialists of various specialties and conduct thorough diagnostic measures to verify the clinical diagnosis and select the appropriate treatment methods. Key words: congenital malformations of the organ of vision, germ layers, mesenchyme, connective tissue, lipomatosis.

scholarly journals EPIPLOIC APPENDAGITIS AS AN UNUSUAL CAUSE OF URGENT ABDOMINAL PATHOLOGY

2021 ◽  
pp. 39-43
Author(s):  
O. V. Galimov ◽  
V. O. Khanov ◽  
R. O. Venediktov ◽  
D. M. Rudakov
Keyword(s):  
Acute Appendicitis ◽  
Histological Examination ◽  
Clinical Picture ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Diagnostic Methods ◽  
Ileocecal Region ◽  
Epiploic Appendagitis ◽  
Postoperative Course ◽  
Epiploic Appendage

Aim of the study is to present a clinical case of epiploic appendagitis as a rare acute abdominal pathology.Methods. This case demonstrates the prevalence of acute appendicitis symptoms in the clinical picture of the disease. During the operation was identified a necrotic changes in epiploic appendage of the ileocecal region with presence of secondary appendicitis.Result. The histological examination of the removed epiploic appendagitis gives a picture of tissues infarct with adipose necrosis and the presence of simple catarrhal appendicitis. It was received a normal postoperative course and a patient was discharged from hospital on the 8th day.Conclusion Epiploic appendagitis, due to the absence of pathognomonic symptoms, is an extremely difficult pathology for diagnosis. To establish the correct diagnosis, it is necessary to take into account a complex of data, including clinical and anamnestic, laboratory and instrumental diagnostic methods.

scholarly journals A Clinical Case of Stomach Perforation Concealed by a Foreign Body

2020 ◽  
Vol 10 (3) ◽  
pp. 228-232
Author(s):  
M. R. Garaev ◽  
M. Yu. Vorotnikov ◽  
Z. R. Garayeva ◽  
M. A. Nartaylakov
Keyword(s):  
Foreign Body ◽  
Clinical Picture ◽  
Clinical Case ◽  
Foreign Bodies ◽  
Abdominal Cavity ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Satisfactory Condition ◽  
Therapy Choice ◽  
Ct Data

Introduction. Stomach perforations caused by ingested foreign bodies are extremely rare injuries in adults, accounting for less than 1% of all gastrointestinal perforations. The clinical picture is diverse and often presents a diagnostic problem. There are few publications reporting such cases in literature.Materials and methods. Using the example of a clinical case, this paper describes the clinical picture, diagnostic role of X-ray instruments and surgical tactics of diagnosing and treating a stomach perforation concealed by a foreign object, which occurred one week prior to admission. The patient V., 52 yo, was admitted to hospital on an emergency basis in the condition of moderate severity, complaining of abdominal pain for two days. The onset of the disease had no apparent reason. Similar pains had bothered the patient a week earlier the incident but were relieved without treatment.Results and discussion. On the basis of clinical and laboratory-instrumental data, acute pancreatitis was pre-diagnosed. Conservative drug therapy with positive dynamics was started. Two days later, computed tomography of the abdominal organs with intravenous bolus contrast was performed. According to the CT data, a foreign body in the abdominal cavity was identified, which rested on the liver at the level of the gallbladder, perforating the wall of the pyloric department of the stomach. Localized inflammatory effusion in the abdominal fat was observed. The patient was operated and discharged in satisfactory condition.Conclusion. Stomach perforations caused by small-sized foreign bodies are characterized by non-specific clinical manifestations. The use of radiation diagnostic methods facilitates the timely diagnosis and therapy choice in patients with stomach perforations caused by small-sized foreign bodies. 

A rare case of oculocutaneous melanosis (nevus of Ota) at Ophthalmologist's appointment

2021 ◽  
pp. 39-43
Author(s):  
E.E. Sidorenko ◽  
◽  
A.O. Nazarenko ◽  
I.V. Suhanova ◽  
A.P. Shavaleeva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Rare Case ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Skin Melanoma ◽  
Nevus Of Ota ◽  
Melanoma Patients ◽  
Eye Melanoma

A rare clinical case of nevus of Ota in a 6-year-old child is described. The clinical picture and diagnostic methods used in this case are reflected. On the example of the patients presented in this article, differential diagnosis with alkaptonuria is fully described. Given the risk of transition to skin melanoma and ocular melanoma, patients with nevus of Ota should be observed by Dermatologist and Ophthalmologist annually. Such patients should also strictly avoid exposition to any ultraviolet radiation and exclude possible risk factors traumatizing the nevus. Key words: nevus, Ota nevus, alkaptonuria, skin melanoma, eye melanoma.

scholarly journals Prolonged QT interval syndrome in pediatric practice: literature data and clinical case description

2021 ◽  
pp. 55-61
Author(s):  
О.B. Synoverska ◽  
◽  
Yu.I. Alekseeva ◽  
N.M. Fomenko ◽  
M.Y. Rеitmаier ◽  
...  
Keyword(s):  
Clinical Picture ◽  
Qt Interval ◽  
Clinical Case ◽  
Local Level ◽  
Pediatric Practice ◽  
Prolonged Qt Interval ◽  
Treatment Of Arrhythmias ◽  
Prolonged Qt ◽  
Practice Literature ◽  
A Current

The article provides basic information about the syndrome of prolonged QT interval, which is a rare pathology of the cardiovascular system and can cause sudden death. The mutations in the genes responsible for dysfunction of ion channels are the key in the pathogenesis of this disease. Jerwell and Lange—Nielsen, Romano—Ward, Andersen—Tavil and Timothy syndromes are described as the main hereditary variants of this syndrome. A own case of the disease in a patient was given. The peculiarity of this case was on the acute, atypical onset of the disease, which started with convulsions and sudden cardiac death. The clinical picture of this case, features of a current are described, indicators of the basic methods of research are resulted. Information on the treatment of this clinical case at the local level and in the department of surgical treatment of arrhythmias, where the patient underwent implantation of endocardial bicameral cardioverter-defibrillator, іs presented. Data on further observation and treatment of the child at the place of residence are given. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: syndrome, QT interval, etiology, pathogenesis, clinical picture, diagnosis, examination, treatment.

Clinical case of a comorbid patient with arterial hypertension

2020 ◽  
pp. 31-39
Author(s):  
Ella Polozova ◽  
Vsevolod Skvortsov ◽  
Olga Radaykina ◽  
Mariya Narvatkina ◽  
Anastasiya Seskina ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Arterial Hypertension ◽  
Clinical Picture ◽  
Clinical Case ◽  
Diagnosis And Treatment ◽  
The Moment

The widespread prevalence of comorbid pathology determines the relevance of this problem. Comorbid pathology due to the interaction of diseases, drug pathomorphism, age characteristics of the patient, significantly changes clinical picture and course of the main nosology, affects severity of complications and their nature, significantly affects quality of life and prognosis of patients. Diagnosis and treatment of many diseases is complicated in the conditions of comorbidity. The article presents a clinical case of a comorbid patient with arterial hypertension from the moment of exposure to risk factors and ending with the formation of many concomitant diseases, as an example of trans-nosological comorbidity.

Hypoglycemic Hemiparesis Masquerading As Ischemic Stroke: When Guideline Fails

2020 ◽  
Vol 15 (4) ◽  
pp. 420-422
Author(s):  
Dhruvkumar M. Patel ◽  
Mukundkumar V. Patel ◽  
Jayanti K. Gurumukhani ◽  
Maitri M. Patel ◽  
Himal J. Mahadevia ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Thrombolytic Therapy ◽  
Neurological Deficit ◽  
Clinical Case ◽  
Complete Recovery ◽  
Acute Onset ◽  
Diabetic Patients ◽  
Focal Neurological Deficit ◽  
Random Blood Sugar ◽  
Resident Doctor

Background: Hypoglycemia may rarely present as hemiparesis and sometimes it is difficult to differentiate from ischemic stroke. When random blood sugar (RBS) value is between 50 and 80 mg % in patients presenting with focal neurological deficit, no guideline exists to consider the possibility of hypoglycemia before initiating thrombolytic therapy. Clinical Case: A 58-year-old male, who was a known case of diabetes and hypertension, was brought to the emergency room with acute onset of right hemiparesis and dysarthria of 90 minutes duration. His NIHSS Score was 9, blood pressure was 150/90 mm of Hg and RBS was 79 mg% on admission. His CT scan brain was normal and was considered for thrombolysis. Resident doctor not aware of previous sugar repeated RBS before thrombolysis which was surprisingly 60 mg% 60 minutes after the first RBS. Even though he was a candidate for thrombolysis, intravenous 25 % dextrose was administered considering the possibility of hypoglycemia. He made a complete recovery within 20 minutes and thrombolytic therapy was withheld. : In Diabetic patients with focal neurological deficit and RBS less than 80 mg% on admission, RBS should be rechecked and in appropriate cases should be challenged with IV dextrose considering the possibility of hypoglycemia before commencing thrombolytic therapy.

scholarly journals Endometriosis as a Reason of Intraabdominal Bleeding in Pregnancy. Clinical Case

2019 ◽  
Vol 23 (3) ◽  
pp. 283-289
Author(s):  
Y. A. Revzoeva ◽  
E. Y. Shakurova
Keyword(s):  
Cesarean Section ◽  
Pregnant Women ◽  
Laboratory Tests ◽  
Clinical Case ◽  
Abdominal Cavity ◽  
Diagnostic Procedures ◽  
Reproductive Period ◽  
Diagnostic Methods ◽  
Dark Blood ◽  
Abdominal Bleeding

The article defines the significance and relevance of the problem of endometriosis during pregnancy. 10% of women in the reproductive period have different localization of endometriosis. 25% of pregnancies with endometriosis are complicated by preterm labor. The article presents a clinical case of intra-abdominal bleeding in a 28-year-old pregnant woman with retrocervical endometriosis at gestation age of 32 weeks and 6 days. The article covers the results of examination and special diagnostic procedures of intra-abdominal bleeding in pregnant women with retrocervical endometriosis. The main diagnostic methods were the study of past medical history, ultrasound examination, and laboratory tests. Due to their infrequency during pregnancy internal bleedings present difficulties in their diagnosis. Ultrasound reliably revealed a large amount of fluid in the abdominal cavity and small pelvis and excluded the presence of intrauterine bleeding. Clinical and laboratory tests indicated the severity of the patient's condition. Symptoms of moderate fetal distress were also identified. Therefore, a decision was made about an emergency delivery by the cesarean section followed by an abdominal revision. During the cesarean section, 500 ml of blood in the form of dark blood clots was found in the abdominal cavity. The condition of the premature newborn was in conformity with his gestational age. The source of bleeding were the of endometriosis on the back wall of the uterus. These focuses most likely caused hemoperitoneum. The revision of the abdominal cavity did not find any other foci of bleeding. The postoperative period was uneventful. The article provides general guidelines for the management of pregnant women with severe forms of endometriosis.

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