scholarly journals MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME

2020 ◽  
Vol 16 (4) ◽  
Author(s):  
V.V. Antsupva ◽  
I.V. Lastivka ◽  
D.V. Kolubakin ◽  
I.A. Ushko ◽  
О.V. Nahornyi
Keyword(s):  
Congenital Malformations ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Practical Interest ◽  
Apert Syndrome ◽  
Congenital Defects ◽  
Comprehensive Treatment ◽  
Pathogenetic Mechanisms ◽  
Treatment And Prevention ◽  
Surgical Methods

Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome. Given the manifestation of the syndrome at birth and severe congenital defects of the musculoskeletal system, brain, cardiovascular system, and others, this disease is of practical interest to doctors of many specialties. Objective: to generalize modern ideas about the pathogenetic mechanisms, diagnostic, treatment, and prevention of Apert syndrome. Materials and methods. Clinical case of Apert syndrome. Clinical and genealogical, biochemical, cytogenetic, instrumental methods of examination. Results. The paper presents a clinical case of Aper syndrome in a newborn girl with multiple malformations. Modern information on pathogenetic mechanisms, diagnostic, treatment, and prevention of Aper's syndrome is provided. Conclusions. Apert syndrome belongs to a group of syndromes of multiple congenital malformations that require the attention of doctors of various specialties. The main clinical manifestations of the disease are quite specific which allows establishing the diagnosis at birth. At the core of Aper's syndrome are mutations in the FGFR2 gene. There is a prenatal diagnostic of the disease. Reconstructive surgical methods of treatment have been developed. Timely comprehensive treatment and rehabilitation allow such patients to adapt to society.

scholarly journals Rapidly progressive course of nonspecific aortoarteritis: a clinical case

2020 ◽  
Vol 11 (4) ◽  
pp. 83-89
Author(s):  
Marina V. Grushina ◽  
Ilya Sergeevich Grekov ◽  
Kseniya D. Arkhypova
Keyword(s):  
Cerebral Ischemia ◽  
Arterial Hypertension ◽  
Clinical Case ◽  
Carotid Arteries ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Practical Interest ◽  
Diagnostic Errors ◽  
Vascular Lesions ◽  
First Year

Background. Nonspecific aortoarteritis, or Takayasus disease, is one of the most complex and rare pathologies in modern clinical practice. It is the orphan nature of the disease, along with non-specific clinical manifestations, that causes a large number of clinical and diagnostic errors that lead to an unfavorable prognosis and early disability of patients. Despite the development of modern methods of treatment of nonspecific aortoarteritis, in some cases it is not possible to achieve a stable remission, which leads to a steady progression of the pathological process. Clinical case description. The article presents a case of a rapidly progressing course of Takayasu's disease in a young woman with multiple arterial vascular lesions that developed during the first year after the onset of arterial hypertension, while the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. The follow-up period was 10 years. Conclusion. Given the peculiarities of this nosology, each identified case of Takayasus disease is of great clinical and practical interest. The disease peculiarity in thise patient is that during the first year from the onset of arterial hypertension, the main occlusive lesions of the aorta and arterial vessels were identified. At the same time, the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. It should be noted that often the symptoms of non-specific aortoarteritis appear under the masks of other diseases, which requires a careful differential search. A correct diagnosis and timely treatment can prevent the development of complications and slow the progression of the disease.

scholarly journals Strategies for patient therapy with chronic brain ischemia

2020 ◽  
pp. 86-93
Author(s):  
O. V. Kurushina ◽  
A. E. Barulin ◽  
Yu. S. Vorobjeva
Keyword(s):  
Brain Ischemia ◽  
Pathological Condition ◽  
Clinical Manifestations ◽  
Cerebrovascular Diseases ◽  
Pathogenetic Mechanisms ◽  
Treatment And Prevention ◽  
Therapy Strategy ◽  
Chronic Brain Ischemia ◽  
History Of ◽  
Therapeutic Problem

The article is devoted to the analysis of various pathogenetic mechanisms involved in the formation of chronic brain ischemia. The authors discuss current trends in society, leading to a wide spread of cerebrovascular diseases: an increase in life expectancy and a constantly increasing level of psychosocial stresses. The paper considers the variety of clinical manifestations, course options, the pace of development of this pathology, diagnostic and therapeutic difficulties encountered by doctors treating this category of patients. Particular attention is paid to symptoms that prevent a full course of treatment and prevention of chronic cerebral ischemia, such as asthenia and impaired statolocomotor function. The leading pathogenetic mechanisms that play a role in the formation of these syndromes are discussed. Various approaches to the treatment of this pathological condition are considered. The possibility of using drugs with a multimodal effect is discussed. An analysis of a clinical case involving a patient with a long history of chronic brain ischemia is presented. The main factors that are obstacles to a full pathogenetically directed treatment are identified and ways to solve this therapeutic problem are given. The authors conclude that it is necessary to formulate a wellthought- out therapy strategy for this pathological condition, including timely, well-considered use of drugs with a neurotrophic, neuromodulating effect, which allows further measures, including non-pharmacological approaches. Particular attention is paid to the role of social support and physical activity for the prevention of cerebrovascular diseases.

scholarly journals Apert syndrom: a literature review and own clinical case

2020 ◽  
pp. 55-58
Author(s):  
V.M. Husiev ◽  
◽  
D.S. Khapchenkova ◽  
V.E. Kleban ◽  
◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Proximal Phalanx ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Apert Syndrome ◽  
Type I ◽  
Hands And Feet ◽  
Type V

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.

scholarly journals Agranulocytosis in General Practice: Diagnosis, Treatment, Prevention and Clinical Case

2016 ◽  
pp. 52-54
Author(s):  
Viktoriia Tkachenko ◽  
Yana Sadovnik ◽  
Nelia Vydyborets ◽  
Olha Bondar ◽  
Oksana Barkar
Keyword(s):  
General Practice ◽  
Clinical Case ◽  
Family Doctor ◽  
Clinical Manifestations ◽  
Antithyroid Drugs ◽  
Blood Tests ◽  
Antithyroid Therapy ◽  
Treatment And Prevention

The article presents literature about classification, pathogenesis, clinical manifestations, diagnosis, treatment and prevention of agranulocytosis. The clinical case of agranulocytosis in practice of family doctor is presented, it developed in patient, who was taking antithyroid therapy. The attention of physicians to monitoring indicators of general and biochemical blood tests while taking antithyroid drugs has made.

scholarly journals Systemic lupus erythematosus: challenges of early detection

2021 ◽  
Vol 18 (4) ◽  
pp. 162-166
Author(s):  
A. V. Pronevich ◽  
N. G. Kadochkina
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Early Detection ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Rapid Development ◽  
Clinical Manifestations ◽  
Response To Therapy ◽  
Inadequate Response ◽  
Systemic Lupus ◽  
Treatment And Prevention

The article presents a clinical case of such difficult for detection disease assystemic lupus erythematosus (SLE), which is characterized by atypical debut options, rapid development of complications, inadequate response to therapy. It is emphasized that the first clinical manifestations of the disease are the most important for its timely diagnosis, beginning of treatment and prevention of complications. The study concludes that mistakes in the diagnosis, late beginning of treatment may be related to the absence of SLE awareness among physicians.

scholarly journals Сardiovascular autonomic neuropathy as a diabetes complication

2016 ◽  
Vol 97 (6) ◽  
pp. 1000-1002
Author(s):  
I A Latfullin ◽  
Z F Kim ◽  
M A Mingazetdinov
Keyword(s):  
Diabetes Mellitus ◽  
Autonomic Neuropathy ◽  
Clinical Case ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Diabetes Complication ◽  
Treatment And Prevention ◽  
Biventricular Failure ◽  
Mechanisms Of Development ◽  
Work Up

The article deals with one of the possible complications of diabetes mellitus - cardiovascular autonomic neuropathy as a variant of diabetic neuropathy. The basic pathogenic mechanisms of development of this condition and clinical manifestations depending on the patient’s age, duration and degree of diabetes compensation, are described. Diagnostic criteria for heart involvement in diabetes mellitus are discussed in detail, from asymptomatic course to sudden patient’s death, from instrumental findings to acute biventricular failure development. The main findings from patient’s work-up (ECG, echocardiography) are named. The principles of prevention and treatment of heart disease in diabetes mellitus are provided. Theory is accompanied by our own clinical observation and is illustrated with ECG. In the clinical case tactics of treatment and prevention of diabetic cardiopathy are suggested.

Clinical case of lung lesions in patient with newly diagnosed systemic lupus erythematosus

2019 ◽  
Vol 1 (9) ◽  
pp. 53-57
Author(s):  
T. N. Gavva ◽  
L. V. Kuzmenkova ◽  
Yu. N. Fedulaev ◽  
T. V. Pinchuk ◽  
D. D. Kaminer ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Lung Damage ◽  
Newly Diagnosed ◽  
Systemic Lupus ◽  
Lung Lesions ◽  
Laboratory Parameters ◽  
Clinical Interest

A case of lung damage in systemic lupus erythematosus (SLE) in a 33-year-old woman is described. This case is of clinical interest due to the complexity of diagnosis due to the fact that SLE is a disease with diverse clinical manifestations involving many organs and systems, which often makes it difficult to timely recognize the onset of the disease. SLE still remains a challenge and requires special attention to the patient s history, clinical and laboratory parameters of the patient, as well as specific immunological examinations.

Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

2020 ◽  
pp. 9-16
Author(s):  
Sergey Armakov
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Doppler Imaging ◽  
Comprehensive Treatment ◽  
Impaired Hearing ◽  
Temporal Bones ◽  
The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

Drinking mineral water in the correction of metabolic syndrome in patients with cicatricial skin changes

2021 ◽  
pp. 56-61 ◽  
Author(s):  
V. K. Frolkov ◽  
S. N Nagornev ◽  
K. V. Kazantseva
Keyword(s):  
Insulin Resistance ◽  
Metabolic Syndrome ◽  
Water Intake ◽  
Mineral Water ◽  
Clinical Manifestations ◽  
Practical Interest ◽  
Resistance Index ◽  
Mineral Waters ◽  
Skin Changes ◽  
Lipid Metabolism Disorders

The article analyzes the efficiency of complex physiotherapy in combination with internal intake of medium-mineralized water “Essentuki № 17” in patients with cicatricial skin changes in the presence or absence of metabolic syndrome. It was found that internal mineral water intake supplementing physiotherapy effectively corrected carbohydrate and lipid metabolism disorders by reducing the insulin resistance index, which contributed to a greater regression of clinical manifestations of cicatricial skin changes in patients with metabolic syndrome. Meanwhile, in the absence of metabolic syndrome, the course intake of mineral water did not signifi cantly affect complex physiotherapy, although the index of insulin resistance and body weight of patients significantly decreased. It is suggested that, given the presence of nonspecifi c preventive potential of the course of drinking mineral waters intake, there is some theoretical and possibly practical interest in research on pre-course mineral water intake before performing cosmetic operations to accelerate the process of skin regeneration and the formation of scarring in a less pronounced form.

Sign in / Sign up

Export Citation Format

Share Document