Verification Of Diagnosis Research Articles

An evidence-based algorithmic approach to osteoporosis etiology verification on the example of a clinical case

Background. The importance of timely detection of osteoporosis in patients is conditioned by its severe consequences such as osteoporotic fractures. The disease can be both primary and related to the existing other pathology or to the therapy being carried out, i.e. secondary. In young patients, in most cases, osteoporosis is secondary in nature. Diagnosis verification requires doctor’s perseverance and knowledge. Purpose – is to demonstrate an algorithm of finding a possible cause of the osteoporosis development in a young person on the example of a clinical case. Materials and Methods. The medical history of a 32-year-old man is presented. The man was consulted a doctor with complaints of long-lasting aching pain in the back, stiffness in the morning in the thoracic spine and pain during movement, and was diagnosed with a compression fracture of the spine on the background of a decrease in bone mineral density. Results. The article describes the step-by-step algorithm of making a diagnosis by gradually excluding primary osteoporosis and possible causes of the secondary nature of the disease. Information about the possible mechanisms of osteoporosis formation in the most common conditions included to the differential diagnosis is given in the article. The described diagnostic search algorithm can be used in the practice of a doctor of any specialty. Conclusions. Making a diagnosis of osteoporosis must include a differential diagnosis of its forms with the establishment of the ethiology of this pathology. In young patients, in most cases, osteoporosis has secondary nature and requires a mandatory search for its cause by gradually and methodically excluding conditions that can lead to a decrease in the mineral density of bone tissue, including genetic ones. In practice, there are cases of idiopathic osteoporosis, when the examination does not allow to clearly establish the reasons that led to a decrease in bone density. Such cases require the special attention of doctors, because the diagnosis of the main disease that led to the development of osteoporosis in the future can be detected. In this case along with antiresorptive drugs, therapy of the condition, which is the root cause of the development of osteoporosis, is prescribed, if possible. The specified combined therapy will contribute to increasing the effectiveness of treatment and shortening its duration.

Роль витрэктомии в диагностике первичной витреоретинальной лимфомы (клинический случай)

This article provides description of vitrectomy as a major way of getting biopsy material from a patient with primary vitreoretinal lymphoma. The diagnosis verification was performed with the help of PCR study B-cell clonality by genes IgH heavy chain and MYD88 gene identification. The article also describes delayed results of tumour radiotherapy. Keywords: primary vitreoretinal lymphoma, diagnostic vitrectomy, PСR, B-cell clonality, MYD88 gene, radiotherapy

BIOSKIN: A Protocol for the Copenhagen Translational Skin Immunology Biobank and Research Programme

IntroductionPsoriasis, atopic dermatitis and contact dermatitis are common chronic inflammatory skin diseases that have a significant impact on individuals and society.Methods and analysisThe Copenhagen Translational Skin Immunology Biobank and Research...

Methodological principles of diagnosis verification and treatment tactics determination in combat limb injuries with bone defects

Objective. To develop a classification system for long bone defects resulting from combat limb injuries, establish criteria for predicting pathological fractures, and determine indicators for assessing the feasibility of converting the fixation method in combat-related injuries. Methods. The modern literature regarding the treatment of combat-related long bone defects resulting was analyzed in three databases: PubMed, Scopus, and Web of Science. The analysis was conducted using keywords such as combat injuries, bone defect, non-union, auto- and allograft transplantation, Ilizarov method — bone transport, Masquelet method — induced membrane, and fixation method replacement. The clinical material used for this study was derived from the evaluation and treatment of 457 patients with long bone defects at the III–IV medical intervention stage. Results. The determination of modern perspectives on the fundamental issues of combat injuries, combined with the analysis of treatment outcomes for such patients, enabled the development and validation of a classification of bone defects that incorporates the volume of bone tissue loss. Furthermore, a prognostic table for the risk of pathological fractures in cases of bone defects and a scoring scale for assessing the feasibility of fixation method conversion have been introduced and applied. Conclusions. The proposed classification allows the verification of all types of long bone defects. Its application in clinical practice offers the possibility of obtaining optimal and standardized treatment methods for different types of bone defects, thus improving outcomes by choice of appropriate technologies for their replacement. The objectification of fracture risk factors identification for bone defects enables the choice of the method and means of segment stabilization. The assessment of the feasibility of the fixation method change allows the evaluation of the patientʼs condition and the local status, facilitating the determination of the potential for method conversion — transition from external fixation devices to intramedullary osteosynthesis, significantly reducing complications during this stage.

Belimumab in a Patient with Systemic Lupus Erythematosus with Juvenile Onset and Steroid-induced Diabetes: Clinical Case

Background. The management of children with systemic lupus erythematosus (SLE) is usually associated with lifelong systemic glucocorticoids administration and, thereby, high risk of serious side effects, including steroid-induced diabetes. The belimumab (B-lymphocyte stimulator inhibitor) administration significantly reduces the glucocorticoids dose, the risk and severity of steroid therapy complications. Clinical case description. The patient was diagnosed with SLE at the age of 16 years. Therapy with hydroxychloroquine and oral glucocorticoid at a high dose (methylprednisolone 56 mg per day) was initiated. Steroid-induced diabetes was diagnosed 1 month after the therapy start; avascular necrosis sites were revealed in 2 months. Mycophenolate mofetil made it possible to achieve the disease activity control. However, the belimumab was prescribed 5 months after diagnosis verification due to continuous insulin requirement and avascular necrosis progression. Conclusion. Belimumab is the only genetically engineered biologic drug approved for the treatment of children with SLE. As a result of its use, it was possible to stabilize the patient's condition quickly (within 3 months), to reduce significantly the dose of oral glucocorticoid, methylprednisolone (from 24 to 8 mg/day), to achieve remission of steroidinduced diabetes with further insulin withdrawal, and also to relieve avascular necrosis clinical symptoms.

Epidemiology of amyotrophic lateral sclerosis in the Krasnoyarsk region

Background. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that causes paralysis of muscles due to degeneration of motor neurons. According to available data, the incidence of ALS in different regions of the world is from 0.6 to 3.8 per 100,000 population per year. Data obtained during the study of the epidemiology of ALS at the regional level can be used in planning medical resources, in particular, calculating the necessary respiratory equipment and funds for nutritional support.Aim. Clinical and epidemiological analysis of ALS cases registered in the Krasnoyarsk region for the period 2018–2022.Materials and methods. A clinical and epidemiological analysis of ALS cases registered in the Krasnoyarsk region from 2018 to 2022 was conducted. To do this, we used data from the specialized office of neuromuscular pathology of the Regional Clinical Hospital in Krasnoyarsk and the Krasnoyarsk Regional Medical Information and Analytical Center. Diagnosis verification was carried out in accordance with the generally accepted El Escorial and Gold Coast criteria. The functional state and degree of neurological deficit were assessed using the ALS-FRS-R scale.Results. Over the period from 2018 to 2022, 78 cases of ALS were registered. The incidence rate was 0.54 cases per 100,000 population per year. In 2022, the prevalence rate was 1.16 cases per 100 thousand population. The time from symptom onset to diagnosis of the disease ranged from 4 to 57 months, with the average time to diagnosis being 17 months. Most patients were diagnosed with ALS when their ALS-FRS-R score decreased by 7–11 points. The division of patients into groups of rapid, moderate, and slow diagnostic correlates with life expectancy. Patients who are diagnosed quickly have a higher rate of disease progression, which results in a low life expectancy.Conclusion. The creation of specialized centers will improve the diagnosis and management of patients with ALS and plan the costs of palliative care. The increase in the incidence and detection of ALS emphasizes the need to develop new approaches to the treatment and rehabilitation of patients with ALS.

Factors of risk of urogenital disorders during pregnancy and after births

The objective: to learn the factors of risk of urogenital disorders during pregnancy and births. Materials and methods. A basic group was made up of 51 patients with complaints about urogenital disorders. Verification of diagnosis, and determination of the type of disorders conducted based on filling of the urogynecological questionnaire, diaries of urination, results of functional tests, and ultrasonography of lower departments of urinoexcretory ways. The group of comparisons was made by 50 women who gave, without the signs of urogenital disorders. Results. High-frequency extragenital diseases which are the vascular displays of syndrome of undifferentiated connective tissue dysplasia for the women of basic group testifies that a generalization defect of connective tissue is one of the reasons for the manifestation of symptoms of urogenital disorders during pregnancy and after births for the women of reproductive age. Conclusion. The results must be taken into account in the development of a method of prognostication of urogenital disorders for women during pregnancy and after births.

Analysis and interpretation of Coronavirus infection children's incidence, contributing factors, risks of complications and their relationship.

Aim: To study and investigate the incidence of Coronavirus infection in children, the course of the disease, the risks of complications and their interrelationships. Materials and Methods: Study included the analysis and observation of children (n=55, aged 14.36±3.62 years) with confirmed Coronerovirus infection, who were observed in the CNE ≪CMCH≫ in Uzhgorod in outpatient conditions. A study of clinical presentations, a clinical and laboratory examination followed by a mathematical analysis of the symptoms data in children with an identified Coronavirus infection and in the dynamics up to week 30 (with survey intervals in 3 weeks) from the diagnosis verification was carried out. Results: A dynamic analysis of the clinical manifestation of symptoms in children with an identified Corona virus infection and within 30 weeks (with survey intervals of 3 weeks) from the beginning of the diagnosis verification was carried out. Complaints from the respiratory system were prevailed. The most long-lasting complaint was observed ≪changes in the sense of taste and smell≫ (from 35(63.6%) to 6(10.9%) up to 18 weeks inclusive. Other complaints ≪Cough, Rhinitis, Shortness of breath, Pain in the chest≫ was observed for 6 weeks. Sore throat, muscular and joint pain were persisted for 3 weeks. Fever was not identified at week 3. Illness with other viral respiratory diseases started at week 9 and was observed until week 30 (from 10(18.2%) to 19(34.5%)) with varying levels. A decrease in cases of IgM identification was observed within 6 weeks (from 55, 100% to 20, 36, 4%). On the 9th week, the presence of IgM was not established. There is also an increase in the number of cases of detection of IgG in patients with a level maximum of 6 weeks. Conclusions: There is a positive effect of the CRP level on the occurrence of symptoms of cough, rhinitis, shortness of breath, chest pain, change in taste and smell, muscle and joint pain (r=0.33-0.55), with the most significant data for the symptom of pain in chest (p=0.00001). Ferritin level interactions mostly had a negative direction (r=-0.35-0.48, p=0.02-0.00001) on the development of symptoms, with the exception of rhinorrhea (r=0.48, p=0.00002) and chest pains (r=0.39, 0.003). According to multiple logistic regression analysis the chance of the symptom of a change in taste and smell increases due to an increasing in the level of Procalcitonin in 1.48 times. The chance of the symptom of shortness of breath increased due to an increasing in the Ferritin level in 1.025 times.

Improved Abel Method for Low Sampling Points Situation and Experimental Verification of Electron Density Distribution Microwave Diagnosis

Improved Abel Method for Low Sampling Points Situation and Experimental Verification of Electron Density Distribution Microwave Diagnosis

Генитоуринальный менопаузальный синдромом: возможности локальной комбинированной терапии

Genitourinary syndrome of menopause (GSM) is the second most common marker of the onset of menopause, with early symptoms that can occur during perimenopause. Objective. To study the dynamics of clinical symptoms of the disease and characteristics of the vaginal microbiota in patients with GSM receiving local therapy with the medication containing Lactobacillus acidophilus and estriol. Patients and methods. The study included 62 patients with postmenopausal atrophic vaginitis. Diagnosis verification consisted of clinical examination (general and gynecological) and laboratory tests (microscopy and molecular biology testing by real-time polymerase chain reaction, determination of vaginal pH). Results. Local therapy with the medication containing Lactobacillus acidophilus and estriol in patients with postmenopausal atrophic vaginitis allowed to restore the vaginal microbiota and eliminate the symptoms of this nosological form of the disease with a statistically significant efficacy. Conclusion. The study of the vaginal microbiota showed that the type of bacterial community in women with menopause for up to 10 years or more without systemic hormone therapy was associated with the absence of Lactobacilli. Therefore, when verifying the diagnosis of atrophic vulvovaginitis, it is necessary to consider not only the presence of clinical symptoms, but also the characteristics of the vaginal microbiota, which will enable the specialists to personalize the management strategies for postmenopausal patients. Key words: atrophic vulvovaginitis, postmenopause, vaginal microbiota, vaginal tablet containing Lactobacillus acidophilus and estriol

The role of psychological characteristics of the personality of patients with colorectal cancer in the timeliness of diagnosis verification and prognosis of disease outcome.

Colorectal cancer (CRC) has become the third most commonly diagnosed type of cancer in the world. Based on the risk factors for colorectal cancer (behavior, lifestyle), it is important to better understand the behavioral and psychological characteristics of the individual associated with timely seeking medical help, coping with the extreme situation of diagnosis, and the course of the disease. This determined the purpose of the study: identify the psychological characteristics of patients with colorectal cancer associated with the stage of diagnosis verification and the prognosis of disease outcome. Coping, quality of life, and resilience, as well as clinical and sociodemographic variables were studied in 72 patients diagnosed with colorectal cancer. The design of the study involved studying the relationship between the stage of cancer and the prognosis of the outcome of the disease, as well as the role of psychological variables in the timeliness of diagnosis and predicting the outcome of cancer. The stage of verification of colorectal cancer is associated with the prognosis of the outcome of the cancer; the later colorectal cancer is verified, the more unfavorable the prognosis of the outcome of the oncological disease. Escape-avoidance coping is associated with the verification stage of colorectal cancer; pronounced avoidance is associated with the late verification stage. Coping strategies such as seeking social support, positive reappraisal, risk-taking, pain intensity, and role functioning significantly influence the prognosis of colorectal cancer outcomes. The psychological characteristics of the personality of patients with colorectal cancer have been identified, which, by determining the behavior of patients, affect the timeliness of diagnosis verification and the prognosis of the outcome of the disease.

Реабилитация больных раком молочной железы после радикального лечения

Breast cancer ranks first in the structure of cancer incidence. Considering fatality reduction within a year since the moment of the diagnosis verification, it can be assumed that the screening programs and complex treatment are effective. However, after treatment patients face a number of challenges reducing their quality of life, which can be overcome by conducting high-quality medical rehabilitation in a timely manner. Based on the key features, this medical process requires a complex approach and accessibility for all regions of our country within the state budget.

Kinetics of IgM, IgA, IgG to SARS-CoV-2 in children with COVID-19 in Lviv region in different periods of the infectious process depending on the severity of the course and age

Aim. The research aims at analyzing the kinetics of IgA, IgM, and IgG to SARS-CoV-2 in children based on the severity of COVID-19 and age.
 Materials and Methods. The conducted prospective study involved 88 children (mean age 9.4 years) with COVID-19, admitted to the "Lviv Regional Pediatric Clinical Hospital "OKHMATDYT" from 2020 to 2021. The participants included 36 males (40.90%), and 52 females (59.10%) in the observation group. Diagnosis verification relied on clinical manifestations of the disease, with the detection of SARS-CoV-2 RNA from nasal mucus using the PCR method. The values of IgA, IgM, and IgG to S and N proteins of SARS-CoV-2, determined by the ELISA method at different times of the infectious process in 380 blood serum samples, were analyzed.
 Results and Discussion.The research findings of IgM to SARS-CoV-2 in the first week of illness revealed a median value of 0.24 [0.14; 1.39], increasing to 0.49 [0.30; 2.87] in the second week. The highest median value of IgA to SARS-CoV-2 is 0.33 [0.24; 1.00] was found from 15 to 30 days, after 30 days it was 0.24 [0.20; 0.28].
 The increase in the median value of IgG-N to SARS-CoV-2 was observed from the second week of the illness, reaching 1.13 [0.52; 3.17], with its maximum value at 5.68 [2.39; 8.86] within the period up to three months. Severe COVID-19 was diagnosed in 27 children (30.68%), comprising 15 females (55.56%) and 12 males (44.44%). In the majority of hospitalized children, IgM values at different degrees of disease severity were positive from the first to the seventh day of illness. In children with a severe course of SARS-CoV-2, the median value of IgM in blood serum during this period was 1.39 [1.36; 4.07]. There was a statistically significant difference between the IgG levels for moderate and severe forms on days 15-30 of the illness: 0.54 [0.21; 1.89] compared to 5.55 [4.99; 5.80], respectively (p<0.05). In patients with both moderate and severe forms of the disease, median values of IgG to N SARS-CoV-2 were positive throughout the study period. A significant increase in the median value of IgG to N SARS-CoV-2 was observed in females from day 31 to day 90. In severe cases of the disease, the median value of IgG to SARS-CoV-2 from three to six months was 9.40 [7.80; 10.60], which was higher than in patients with a moderate form of the disease - 8.72 [8.64; 8.97] (p<0.05).
 Conclusions. Serological studies enable the investigation of the immune response to SARS-CoV-2, determination of seroconversion, and characterization of the course of COVID-19, being crucial for epidemiological research. The levels of IgM, IgA, and IgG to SARS-CoV-2 depend on the disease's severity and the patient's age.

An analysis of the effectiveness of differential diagnosis and surgical treatment of neck soft-tissue sarcomas in children

We conducted a retrospective sample study with prospective collection of follow-up data. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. In the time period from January 2013 to August 2020 (92 months), 126 patients with head and neck soft-tissue sarcomas (STS) received treatment at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. We included 25 patients who had undergone surgery for neck STS and divided them into 4 groups (rhabdomyosarcoma (RMS), non-RMS-like STS, RMS-like STS, IRS-IV STS – with distant metastasis at baseline). The median age at the time of correct diagnosis was 2.6 (0.5; 5.0). The median time from symptom onset to the verification of the correct pathomorphological diagnosis was 3.2 (1.6; 4.9) months. We discovered a significant number (13/25, 52%) of cases of biopsy that was performed improperly (excessive/non-diagnostic biopsy, fine-needle aspiration biopsy) at a general inpatient facility. The correct pathomorphological diagnosis was clinically and statistically much more often made at a reference center (20/25, 80%; p = 0.003). Moreover, more than half of pathomorphological diagnoses (8/13, 62%) made at a general inpatient facility were later changed at a reference center. Radical resection was achieved in 17/20 (85%) survivors. In 3/20 (15%) cases, a repeat surgery was not needed because of the patients' complete response to protocol-based treatment. Radiotherapy was carried out in 11/25 (44%) cases. Protocol-based treatment was completed in 19/25 (76%) patients, 18/25 (72%) patients achieved complete response, 2/25 (8%) patients were considered incurable, and 4/25 (16%) children died before the completion of therapy. Post-operative complications of varying severity were observed in 10/25 (40%) cases and were dependent on the degree of STS extension and the severity of the condition of the patients undergoing intensive protocol-based treatment. The median time of patient observation since diagnosis verification was 33.2 (15.6; 74.2) months. The five-year overall survival (OS) was 76.3% (95% confidence interval (CI) 51.8; 89.5), the five-year event-free survival without local disease progression – 73.9% (95% CI 41.8–90.1). Even though there weren't many patients with IRS-IV in our study (4/25, 16%), their exclusion from the analysis resulted in a higher 5-year OS rate: 88.2% (95% CI 60.2; 96.9). This study revealed significant problems in the differential diagnosis of neck STSs in children. In most patients receiving optimal protocol-based treatment, neck tumors can be radically removed at a specialized healthcare facility without mutilating surgery, which results in high 5-year OS and event-free survival rates in patients without distant metastasis. Our findings require further investigation in a larger sample of patients.

MODERN CHONDROPROTECTORS IN THE THERAPY OF OSTEOARTHRITIS

Introduction. Osteoarthritis is a chronic progressive degenerative disease of the entire joint that affects the articular cartilage, subchondral bone, ligaments, capsule and synovial membrane. Osteoarthritis was previously considered as a mechanical wear-and-tear disease causing degeneration of cartilage, but at present it is clear that the relationship between various joint structures and local inflammation is a central aspect of the underlying pathophysiology. Over the past 20 years, significant progress has been made in osteoarthritis research; however, many questions remain unanswered due to the complexity of the pathophysiology of osteoarthritis. Osteoarthritis is a condition characterized by a high level of comorbidity, primarily due to advanced age being the most influential factor among all the risk factors associated with its development. Additionally, research indicates that individuals with osteoarthritis face a significantly elevated risk of developing comorbid conditions compared to those without this disease.
 Objectives. This study aims at summarizing the most promising therapeutic approaches using chondroprotectors (chondroitin sulfate, Alflutop) in the treatment of patients with osteoarthritis and comorbid pathologies based on the latest pharmacological achievements in the therapy of osteoarthritis.
 Materials and methods. The study was conducted at the Rheumatology Center of M.V. Sklifosovsky Poltava Regional Hospital. 150 patients with osteoarthritis in the period of exacerbation aged 41-73 were examined and received therapy. Among them there were 97 (64.67%) women and 53 (35.33%) men having comorbid diseases (arterial hypertension, coronary heart disease, diseases of the digestive, respiratory, endocrine, genitourinary systems). Radiologically, all patients showed II-III stages of joint lesions according to the Kellgren-Lawrence classification. The history of osteoarthritis lasted 5-19 years. Verification of the clinical diagnosis of osteoarthritis was carried out according to the recommendations of EULAR (2018) based on the findings of clinical, laboratory and instrumental studies. Clinical diagnoses of comorbid conditions were established in accordance with the relevant orders of the Ministry of Health of Ukraine and confirmed by specialists. The patients received standard therapy: non-steroidal anti-inflammatory drugs, chondroprotectors (chondroitin sulfate or Alflutop), gastroprotectors, local treatment according to the order of the Ministry of Health of Ukraine No. 676 dated 12.10.2006, Specialty "Rheumatology". If necessary, additional medications for the treatment of comorbid pathologies (hypotensive, anti-ischemic, anti-diabetic, hypolipidemic) were prescribed according to the recommendations of specialists.
 Prior to beginning the treatment course and following the examination of patients to establish a clinical diagnosis of osteoarthritis, we conducted a thorough assessment to rule out thrombophlebitis. This involved a coagulogram, an ultrasound examination of the lower extremity vessels, and consultation with a vascular surgeon when necessary. In cases where thrombophlebitis of the lower extremities was clinically diagnosed, patients were prescribed Alflutop in a dose of 1.0 ml intramuscularly once a day for 20 days as a chondroprotective agent. For patients without signs of lower extremity thrombophlebitis, chondroitin sulfate was administered in a dose of 2.0 ml intramuscularly once a day for 20 days. The administration of these chondroprotective agents followed a schedule of once every 6 months for the patients.
 Results. The literature regarding the complete understanding of the treatment of patients with osteoarthritis with comorbid pathology enabled us to elaborate a targeted effective therapy taking into account the appointment of the appropriate chondroprotector based on the anamnesis of the disease and the comorbid condition. This therapeutic approach contributed to prolonging the remission of the underlying disease and comorbid pathology, reducing the frequency of hospitalization and shortening the inpatient treatment by 2-3 days.
 Conclusions. The proposed approach in the treatment of patients with osteoarthritis and comorbid pathology, features of the appointment of chondroprotectors with a high prognostic value in prolonging the remission of osteoarthritis and related diseases will improve their practical application.

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation

Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or early adolescence, and little is known of the molecular signaling cascades and biological consequences immediately downstream of the deleted genes. Here, we used targeted metabolomics to compare neonatal dried blood spot samples from 203 individuals clinically identified as carriers of a deletion at chromosome 22q11.2 with 203 unaffected individuals. A total of 173 metabolites were successfully identified and used to inform on systemic dysregulation caused by the genomic lesion and to discriminate carriers from non-carriers. We found 84 metabolites to be differentially abundant between carriers and non-carriers of the 22q11.2 deletion. A predictive model based on all 173 metabolites achieved high Accuracy (89%), Area Under the Curve (93%), F1 (88%), Positive Predictive Value (94%), and Negative Predictive Value (84%) with tyrosine and proline having the highest individual contributions to the model as well as the highest interaction strength. Targeted metabolomics provides insight into the molecular consequences possibly contributing to the pathology underlying the clinical manifestations of the 22q11 deletion and is an easily applicable approach to first-pass screening for carrier status of the 22q11 to prompt subsequent verification of the genomic diagnosis.

Effectiveness of Focused Obstetric Ultrasound Training to Nurses from Remote Health Posts to Improve Pregnancy Outcome and Reduce Morbidity.

A rural ultrasound program was started in Nepal in order to detect complicated pregnancies early in health post where radiologists are not available to provide their services. The study aims to investigate whether focused obstetric ultrasound trained nurses were capable of detecting high risk pregnancy at an early stage in their health post and refer them to higher centre timely so that they are taken care properly. The study site for research were health posts and hospitals where the rural ultrasound program had been conducted in districts of Sudurpashchim province. The referral centres within Sudurpashchim province were assessed for cross verification of diagnosis and pregnancy outcome of referred cases. Quantitative data was collected from health posts and hospitals ultrasound log book where women who had accessed obstetric ultrasound services during pregnancy. Qualitative data was collected from nurses who have completed training. The data was verified from log-book registered in the health post and hospitals. All the quantitative data was entered and analysed. Cross verified data revealed that focused obstetric ultrasound received nurses identified cases been verified same diagnosis in referral hospitals with 66 cases. In-depth interview with 28 nurses revealed that training received by them was effective in minimizing preventable maternal and neonatal mortality and morbidity. Focused obstetric ultrasound in rural and under-resources communities like in Nepal has the potential to improve access and quality of health care services and can result in an increased uptake of antenatal care service utilisation.

Disorders of sexual differentiation. A clinical case

The biological sex of a person is anatomical, physiological, and genetic features that help distinguish a male organism from a female one. One distinguishes genetic, gonadal, and phenotypic sex of a person. Sexual differentiation is a process of development, during which the biological male or female sex is formed, it occurs under the influence of genetic and hormonal factors during fetal development. In this regard, any damage at this stage can lead to disorder of sexual development of a newborn. Disorder of sexual differentiation is a complex of medical conditions in which there is a mismatch between a person’s genetic, gonadal and phenotypic sex.Sometimes it is difficult to visually determine the sex of a child born with disorder of the sexual development due to an abnormal, undefined structure of the external genitalia. For example, they may have the appearance of hypertrophied labia majora and/or a hypertrophied clitoris and the absence of testicles, or vice versa, the child’s genitals may have a normal appearance, but at the same time the internal genitals may be improperly developed.To determine which gender to choose for a child with disorder of sexual differentiation, a number of examinations, including genetic ones, should be carried out. Disorder of sexual differentiation is a complex medical and social problem involving a multidisciplinary team of doctors and the patient’s family. This article describes a clinical case of a child with disorder of sexual differentiation at the stage of diagnosis verification. An interdisciplinary approach is an integral part of accompanying a child with disorder of sexual differentiation, where the joint efforts of doctors, psychologists, teachers and other specialists contribute to the creation of inclusive and safe conditions for the development of each person.

Diagnostic Relevance of Electromyographic Values and their Role in Forecasting the Conservative Treatment in Patients with Carpal Tunnel Syndrome

Summary. Instrumental investigation and electromyography (EMG), one of the most widespread and informative of its methods, still remains widely used for differentiated diagnostics with any other disorder, compressive-ishemic focal neuropathy (CIFN) of the median nerve (MN) ) at the level of the carpal tunnel (CT) diagnosis verification and determination of the severity of damage to the MN. The clinical diagnosis of this pathologyis better know as carpal tunnel syndrome (CTS). Objective: To study the diagnostic relevance of electromyographic values in the Ukrainian population of CTS patients and their role in forecasting the efficiency of conservative treatment of this disorder.
 Materials and methods: 128 patients (204 extremities) with the clinical signs of CTS, who formed the Main Group (MG) underwent electromyography (EMG). The mean age of the patients was 58.2±12.5 years old; among them were 105 (82 %) women and 23 (18 %) men; 77 persons with a bilateral and 51 with a unilateral process. The control group (CG) included 30 volunteers (54 extremities) without any claims and signs of neurological symptoms. The mean age was 45.1±7.8 years old; among them were 23 (77.6%) women and 7 (23,3%) men. To determine the EMG predictors of the effectiveness of clinical outcomes after paraneural corticosteroid injection (PCI) 58 extremities MG were examined.For the EMG examination, we used the «Viking Quest» machine by Nicollet, the USA. Applying relevant methods, we investigated the following: median motor distal latency (DMLm) and CMAP of M. abductor pollicis brevis (APB); median sensory distal onset (MOL-D2), median sensory distal peak latency (MPL-D2), median SNAP amplitude digit 2, median sensory conduction velocity between wrist and digit 2 (mSNCV); difference in median sensory onset latency (digit 1) (MSL-D1) to radial sensory onset latency (digit 1) (RSL-D1) – MD1-RD1; difference in median nerve distal motor latency (2nd lumbrical)to the ulnar nerve distal motor latency (2nd interossei) – 2LI-DML; interrelation of the amplitudes of CMAP APB obtained by the stimulation of the MN on the level of the lower third of forearm to the amplitude of CMAP APB – on the level of the lower third of a palm (wrist to palm amplitude ratio); the sensory ulnar nerve conduction velocity (uSNCV).
 Results: The analysis of mean values of the core EMG values has demonstrated the significant differences between MG and CG, with different directions of changes, typical of the CTS. Relying on the data collected while studying people from the CG (the discovered referential and abnormal values) and the ROC analysis, we have established the sensitivity and specificity of EMG values: DMLm – 73.5% and 96.3%; MPL-D2 – 81.9% and 100%; mSNCV– 93.9% and 100%; MD1-RD1 – 62.5% and 100%; MSL-D1– 83.3% and 96.9%; 2LI-DML – 88.2% and 100%, respectively (AUC=0,91-0.96). Based on the results of the ROC analysis, determined that the most prognostically significant EMG predictor of clinical outcome after PCI was median SNAP amplitude digit 2 (sensitivity 90,9% and specificity 92%, AUC=0,95.
 Conclusions: The EMG is the objective and informative method to diagnose CIFN of the MN at the level of the CT, severity of nerve damage in CTS patients and predicting of clinical outcome after PCI.

Diagnostic verification and routing of children with bronchial asthma using the current information system capabilities

Asthma is a heterogeneous, chronic, and recurrent inflammatory lung disease that also affects children. In recent decades, the incidence of bronchial asthma has been steadily increasing. In 2021, asthma affected 0.89% and 1.87% of Russian children aged 0–14 and 15–17 years, respectively; however, the prevalence of asthma according to official statistics is lower than the real data. Therefore, a significant proportion of patients do not receive proper treatment, which ultimately affects the quality of life of these patients and their parents. Early and accurate diagnosis of bronchial asthma and identification of children with an uncontrolled disease course will provide an opportunity to select/change therapy to achieve remission, thereby preventing possible negative consequences of the disease. In Moscow, according to Order No. 947n of the Ministry of Health of Russia, to improve the quality of medical services, including outpatient care, the Unified Medical Information and Analytical System (UMIAS) has been implemented, which has improved the availability and quality of medical services of public healthcare institutions in the city. This study proposes simple algorithms, and their integration into the UMIAS system will facilitate diagnosis verification for pediatricians and provide allergologists with tools for timely and structured routing of patients with uncontrolled bronchial asthma.