Hererditary connective tissue disorders: unresolved questions and controversial issues

Клеменов, А. В.

doi:10.14300/mnnc.2016.11078

Cited by 3 publications

(2 citation statements)

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“…Therapeutic Archive. 2020; 92 (12): 180-184. DOI: 10.26442/00403660.2020.12.200435 АпоВ -аполипопротеин B АпоВ-100 -изоформа аполипопротеина B КТ -компьютерная томография ЛПНП -липопротеины низкой плотности СГХС -семейная гиперхолестеринемия СОЭ -скорость оседания эритроцитов ТА-повторы -повторы из двух нуклеотидов тимина (Т) и аденина (А) ХС -холестерин PQ, QT -интервалы электрокардиограммы QRS -комплекс электрокардиограммы R3480W, R3500W и R3531C -миссенс-мутации R3500Q -мутация в гене аполипопротеина B UGT1А1 -ген, кодирующий уридиндифосфат-глюкуронозилтрансферазу…”

Section: Clinical Case Of Combined Genetic Pathology In a Patientunclassified

“…Такие изменения скелета, возможно, связаны с выявленными дефектами, но могут иметь и самостоятельное значение в виде сопутствующего заболевания пациента Г.синдрома недифференцированной дисплазии соединительной ткани. У пациента данный синдром характеризуется следующими фенотипическими признаками: торакодиафрагмальным синдромом, включающим в себя деформацию позвоночника (выраженный сколиоз, потребовавший хирургического лечения), синдромом гипермобильности суставов, клапанным синдромом, проявляющимся пролапсом митрального клапана [12].…”

Section: êëèíè÷åñêîå íàáëþäåíèåunclassified

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Clinical case of combined genetic pathology in a patient

Лосик

Yakushina

Skhirtladze

et al. 2020

Terapevticheskii arkhiv

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Family hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.911.6 mmol/l. Gilberts syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.

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Section: Clinical Case Of Combined Genetic Pathology In a Patientunclassified

Section: êëèíè÷åñêîå íàáëþäåíèåunclassified

Clinical case of combined genetic pathology in a patient

Лосик

Yakushina

Skhirtladze

et al. 2020

Terapevticheskii arkhiv

View full text Add to dashboard Cite

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Neurological aspects of connective tissue dysplasia

Khaibullina¹,

Esin²

2023

Z. nevrol. psikhiatr. im. S.S. Korsakova

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The Role of Disposition of Connecting Tissue in the Rise of Nontraumatic Subarachnoidal Hemorrhage in Young Age

Petrova

Попова

Грибачева

et al. 2018

Issled. prakt. med. (Print)

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Purpose. To identify possible effects of systemic dysmorphogenesis of connective tissue on the formation and characteristics of the course of nontraumatic subarachnoid hemorrhage at a young age, with further development of an algorithm for screening physical examination of patients with an increased risk of aneurysmal hemorrhage.Patients and methods. A group of examined patients who underwent SAH under the age of 45 years were 78 people. Methods: neurological examination according to a conventional scheme using traditional methods with assessment of the main functional systems and determining the depth of their damage, determination of constitutional types, assessment of the degree of phenotypic manifestation of DCT by the sum of scores, general clinical laboratory, neuroimaging, and statistical.In order to determine the signs of connective tissue pathology in all patients with SAH, the general examination included determining the constitution, height, weight with the definition of the Ketle index. Attention was also paid to the presence of visible small vessels on the face, chest and other parts of the body, telangiectasias, angiomas, thoracic cell deformities, scoliosis, flat feet, arachnodactyly, diastase of the rectus abdominis muscles, hernia of the anterior abdominal wall. Among the many undifferentiated phenotypic signs of DCT, external (changes in the skin and its derivatives, changes in bones, joints, spine, features of the structure of the hands and feet, peculiarities of the structure of the auricle, eyes, oral cavity, craniocephalic features) and internal (the presence of additional chords, heart valve prolapses, nephroptosis and kidney development abnormalities).Results. When examining 78 patients with subarachnoid hemorrhage at a young age, the risk factors for its development were revealed (non-closed Willisian circle (86.6%), pathological tortuosity of the cerebral vessels (81.6%), dysplastic changes in the heart (68.3%) and kidneys (63.3%), which significantly differed from the comparison group (arterial hypertension – 97.8%, heart disease (IHD, atrial fibrillation) – 53.2%, hypercholesterolemia – 97.8%.) The value of systemic dysplastic change in connective tissue in the formation and flow of SAC at young age is shown. The constitutional-anatomical and functional features, characteristic for external and internal phenotypic signs of connective tissue dysplasia in different age groups, are revealed, and the role of additional vascular risk factors in the course of SAH are found. Conclusion. The complex study of connective tissue dysplasia as a risk factor for the development of aneurysms with a clinical manifestation in the form of SAH at a young age can be used in clinical practice for the timely detection and surgical treatment of aneurysms without signs of SAH. The obtained data can become a basis for developing an algorithm for screening physical examination of patients with an increased risk of aneurysmal hemorrhage.

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Hererditary connective tissue disorders: unresolved questions and controversial issues

Cited by 3 publications

References 0 publications

Clinical case of combined genetic pathology in a patient

Clinical case of combined genetic pathology in a patient

Neurological aspects of connective tissue dysplasia

The Role of Disposition of Connecting Tissue in the Rise of Nontraumatic Subarachnoidal Hemorrhage in Young Age

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