RADIATION DIAGNOSTICS OF STRESS BONE RESTRUCTURING

В данной статье представлены результаты клинических проявлений и рентгенологических исследований, перестройки костной ткани. Результаты наших исследований показали, что обычная рентгенография не решает всей проблемы диагностики стрессовых переломов напряжения. Мы в данной публикации выделяем те случаи, когда обычная рентгенография не в силах решить проблему диагностики и требует использования дополнительных методов лучевой диагностики. Исследование проведено на базе ЦГКБ г. Алматы. Под нашим наблюдением находились 11 (100%) больных, у которых заподозрено наличие перестройки костей. У 6 (54.5%) больных данные рентгенологического исследования указывали, на наличие стрессовой перестройки кости у 5 (45,5%) больных признаки были сомнительными. Применение компьютерной томографии (КТ) и динамическое рентгенологическое исследование позволило установить диагноз стрессовой перегрузки костей. This article presents the results of clinical manifestations and X-ray studies of the bone remodeling. The results of our research have shown that conventional radiography does not solve the entire problem of diagnosing stress fractures of tension. In this publication, we highlight those cases when conventional radiography is unable to solve the diagnostic problem and requires the use of additional methods of radiation diagnostics. The research was carried out on the basis of the Central City Clinical Hospital of Almaty. We observed 11 (100%) patients in whom the presence of bone remodeling was suspected. In 6 (54.5%) patients, X-ray examination data indicated that the presence of stress bone remodeling in 5 (45.5%) patients were dubious. The use of computed tomography analysis (CT) and dynamic X-ray examination made it possible to establish the diagnosis of bone stress overload.

Driver re-education after stroke - case study

The article presents the characteristics of a case study - stroke survivors with unilateral neglect syndrome, mechanisms used in re-education training and elements of functional rehabilitation. The focus was on an important diagnostic problem in the field of occupational medicine and the return to driving for people after stroke. The aim of the research work undertaken was to justify the experimental description of the driver after a stroke and to confirm the possibility of returning to driving, including compulsory re-education. Literature analysis, review of legal acts, characteristics of adaptation devices and conclusions from the case study were also carried out.

Self-induced dermatosis: a diagnostic problem at the intersection of two specialties

Self-induced dermatoses is a group of artificial skin injuries and its appendages caused by self-injuring by the patient in order to get rid of negative emotions and painful sensations or to simulate a well-known dermatitis because of the pathological desire to be hospitalized to meet emotional or financial needs. A significant similarity of clinical manifestations of self-induced dermatoses and oorganic dermatoses (vasculitis, cystic medicine, gangrenous pyoderma, drug reactions, etc.), the inefficiency of dermatological treatment with the sudden appearance of new lesions, as well as the deliberate concealment by the patient the real causes of skin lesions and giving false anamnesis lead to difficulties in diagnosis of self-induced dermatoses. The article presents current data on the main diagnostic criteria and effective methods of treatment of this disease based on several foreign and russian publications; own clinical cases descriptions are also provided. Self-induced dermatoses must be considered as a possible differential diagnosis in cases when no well-known dermatoses can explain the clinical picture and anamnesis does not match it; new destructive lesions appear spontaneously, despite the ongoing treatment.

Clinical, pathological, imaging, and genetic characteristics of patients with progressive muscular dystrophies

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features. Being a rare disease, muscular dystrophy represents a huge diagnostic problem for clinicians. Clinically, muscular dystrophies are characterized by progressive muscle weakness, muscle atrophy, and movement disorders. The combination of clinical signs and analysis of the possible type of inheritance allows one to suspect specific forms of muscular dystrophy. Clinicians increasingly need to rely on electrophysiological, imaging, and genetic data for more accurate differential diagnosis. The paper presents the results of the combined use of magnetic resonance imaging of the thigh muscles and electromyography in 17 patients with muscular dystrophy.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent among those with hearing loss compared to normal-hearing individuals. This excess among patients led us to hypothesize that there could be another pathogenic variant in the GJB2 region/DFNB1 locus. A hitherto undiscovered variant could, in part, explain the cause of hearing loss in patients and would mean reclassifying them as patients with GJB2 biallelic pathogenic variants. In order to detect an unknown causal variant, we examined 28 patients using NGS with probes that continuously cover the 0.4 Mb in the DFNB1 region. An additional 49 patients were examined by WES to uncover only carriers. We did not reveal a second pathogenic variant in the DFNB1 region. However, in 19% of the WES-examined patients, the cause of hearing loss was found to be in genes other than the GJB2. We present evidence to show that a substantial number of patients are carriers of the GJB2 pathogenic variant, albeit only by chance.

Fetal and Perinatal Brain Autopsy: Useful Macroscopic Techniques Including Agar In-situ and Pre-Embedding Methods

Fragile perinatal and fetal brains are the rule rather than the exception for developmental neuropathologists. Retrieving the fresh brain from the skull and examining early fetal, macerated or severely hydrocephalic brains after fixation can be a challenge. Textbooks on neurodevelopmental pathology mention these challenges to macroscopic examination of the developing central nervous system only in passing, but many perinatal pathologists recognize this diagnostic problem. We reviewed protocols and publications on the removal, fixation, slicing and sampling of these fetal- and perinatal brains. In addition, we describe a technique to facilitate the removal of severely hydrocephalic brains with very thin cerebral walls from the skull by replacing the intraventricular fluid with agar in-situ. Furthermore, we present a method for post-fixation pre-embedding in agar to facilitate slicing, macroscopic examination and sampling of fragile and macerated brains.

Unusual Faces of Bladder Cancer

The overwhelming majority of bladder cancers are transitional cell carcinomas. Albeit mostly monotonous, carcinomas in the bladder may occasionally display a broad spectrum of histological features that should be recognized by pathologists because some of them represent a diagnostic problem and/or lead prognostic implications. Sometimes these features are focal in the context of conventional transitional cell carcinomas, but some others are generalized across the tumor making its recognition a challenge. For practical purposes, the review distributes the morphologic spectrum of changes in architecture and cytology. Thus, nested and large nested, micropapillary, myxoid stroma, small tubules and adenoma nephrogenic-like, microcystic, verrucous, and diffuse lymphoepithelioma-like, on one hand, and plasmacytoid, signet ring, basaloid-squamous, yolk-sac, trophoblastic, rhabdoid, lipid/lipoblastic, giant, clear, eosinophilic (oncocytoid), and sarcomatoid, on the other, are revisited. Key histological and immunohistochemical features useful in the differential diagnosis are mentioned. In selected cases, molecular data associated with the diagnosis, prognosis, and/or treatment are also included.