Diagnostic Search Research Articles

Hypercalcemia syndrome: differential diagnostic search and treatment tactics

Hypercalcemia is a common laboratory finding. The most common causes of high blood calcium are primary hyperparathyroidism, tertiary hyperparathyroidism, parathyroid cancer, malignant neoplasms, long-term therapy with lithium and thiazide diuretics, vitamin D intoxication, which require a different approach to treatment. Therefore, it is important for a doctor to be able to conduct a differential diagnostic search for hypercalcemia syndrome in order to establish the cause of high blood calcium and determine the correct tactics for managing patients.

Lymphadenopathies: in the labyrinth of differential diagnosis

When supervising patients, a practicing physician daily faces various clinical and laboratory syndromes. To make a differential diagnosis for many conditions and diseases, the physician must have not only practical experience, but also a broad outlook, including in a number of related specialties. The pathomorphism of diseases, the atypical clinical presentation at the onset of the disease increasingly require the involvement of a multidisciplinary team to solve diagnostic puzzles. The presented clinical case considers the stages of inpatient diagnostic search in a patient with generalized lymphadenopathy. Exclusion of lymphoproliferative diseases became possible only after lymph node excision biopsy, by making an immunohistochemical study, bone marrow puncture, and trepanobiopsy. The nephrotic syndrome and the thyrotoxicosis syndrome have become the following stage of a differential diagnosis.

NSAID-esophagitis: how to break the vicious circles of pathogenesis? Clinical case

The article presents a complex clinical case of drug‑induced erosive esophagitis grade C with the formation of Schatzki ring in patient S., 85 years old. A feature of the case under consideration is the long‑term persistence of both esophageal (dysphagia, odynophagia) and extraesophageal (thoracalgia) complaints, which required an extensive differential diagnosis to rule out the cardiac genesis of the pain syndrome. The diagnostic search was complicated by the patient’s advanced age, the presence of serious accompanying somatic pathology, moderate cognitive decline, contradictory data from X‑ray examination and computer tomography, and the patient’s categorical refusal to perform a biopsy, which made histological confirmation of the presumptive diagnosis impossible. Empirical appointment of pantoprazole (Nolpaza) made it possible to level the phenomenon of odynophagia and improve the condition of the esophageal mucosa, but long‑term use of Nolpaza in high doses was required for restoration of erosive‑destructive changes in the damaged esophagus and stomach.
 Moreover, the literature review is presented, which reveals modern ideas about the mechanisms of Schatzki ring, the features of management and treatment of patients with dysphagia and Schatzki ring according to the guidelines of authoritative international organizations — the World Gastroenterology Organization, the American College of Gastroenterology. The key provisions of the specified organizations, which regulate the doctor’s actions in the management of patients with Schatzki ring, are given. The advantages of prescribing pantoprazole (Nolpaza) are described, taking into account the peculiarities of its mechanism of action, bioequivalence to the original pantoprazole, CYP450‑unassociated hepatic metabolism, the absence of significant drug interactions, serious adverse events, the possibility of its administration to elderly and senile patients without dose correction, the expediency and safety of the long‑term intake.

Features of diagnostic search and experience inthetreatment of chronic urticaria in obese patients withpulmonary pathology

Background. In recent decades, along with the growth of allergic diseases, there has been a progressive increase in the number of people with overweight of varying severity, as evidenced by numerous epidemiological studies. Therefore, both allergies and obesity are among the global problems of modern healthcare due to their high prevalence and medical and social significance. The purpose of the study was analysis of the etiological factors of chronic urticaria (CU) in obese patients with pulmonary pathology, optimization of diagnosis and treatment of CU for further planning of preventive measures. Materials and methods. We examined 250 patients who applied for medical care to the regional clinical hospital in Chernivtsi and had CU associated with pulmonary pathology and obesity. Based on the analysis of the obtained data, a group of 140 patients was formed for further clinical and anamnestic examination: analysis of the anamnesis, determination of the severity of urticaria, assessment of quality of life, control of urticaria symptoms, general clinical laboratory studies, tests for verification of urticaria. Allergy testing was carried out when the patient’s anamnestic data indicated its expediency. The survey was carried out for one month and included a diagnostic period and 3 consultations every 7–10 days. Results. Among the causes of CU in patients with pulmonary disease, drug intolerance and parasitic infection dominate. Polyetiology is observed in 60% of cases. Differences in CU in obese patients are the long-term persistence of urticaria or other elements of the rash, the lack of effectiveness of therapy with the second- and third-generation antihistamines and glucocorticosteroids. Conclusions. The results obtained indicate a positive effect of the quinuclidine derivative quifenadine for the treatment of CU in patients with pulmonary pathology and obesity. Complete and significant effects were obtained in 91.43% of patients. The worst results (8.57%) were demonstrated by patients with the etiological significance of chemical factors (including occupational ones), which is associated with more problematic compliance with the elimination regimen in this category of patients.

Труднощі діагностики аномалії Кімерлі (власне клінічне спостереження)

Kimmerle’s anomaly is characterized by the presence of a bony arch of congenital or secondary origin in the structure of the first cervical vertebrae, which restricts the movement of the vertebral artery and causes its compression. This pathology belongs to craniovertebral malformations - congenital anatomical defects of the structure of the junction of the skull with the first cervical vertebra. Kimerly’s anomaly is diagnosed in approximately 12-30% of the population, causing vertebral artery syndrome, which is the cause of chronic ischemia in the posterior parts of the brain. Purpose - to describe the clinical case of Kimmerle’s anomaly in a teenager as an example of a long diagnostic search for this pathology. Clinical case. A 9-year-old girl complained of frequent headaches accompanied by vomiting. Similar conditions occurred every 3-4 weeks. Gastroenterological and neurological factors were not detected. The conditions were relieved by sleep, and drug therapy was not effective. During puberty, such attacks became less frequent and later disappeared. At the age of 16, the girl began to complain of neck pain, recurrent migraines, sharp «shooting» pain in the ear, accompanied by a buzzing sound, ringing, later joined by syncopal states, gait instability, and facial muscle weakness. An X-ray of the craniovertebral junction revealed Kimmerle’s anomaly. The patient’s condition improved with the use of the Shantz collar and constant physical therapy and neuroprotective therapy. Conclusions. Kimmerle’s anomaly can be asymptomatic and incidental, but in younger patients with a combination of neuro-otolaryngological symptoms and drop attacks, this pathology should be excluded. When taking anamnesis, attention should be paid to the chronology and conditions of symptom onset, as well as the patient’s medical history. 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 interests was declared by the authors.

Modern Aspects of Exercise Tolerance Assessment in Children with Post-COVID Syndrome, Pneumonia, and Obesity

An important and understudied problem is the state of health of children and adolescents who have experienced acute respiratory diseases or suffer from chronic diseases. Suffering from COVID-19 and post-COVID-19 syndrome, pneumonia are complex pathological conditions that significantly affect the functional capabilities of the child’s body and quality of life. Obesity, which is also an important medical and social problem, has no less impact on health. The purpose of the work is to summarize the data from the literature about the value of exercise tests in children with postcovid syndrome, after pneumonia of various etiologies, and obesity; modern aspects for assessing exercise tolerance. It is worth noting that nowadays screening programs for examining the health of children, aimed at prevention and early detection of pathological changes, play an important role. One of these methods of diagnosis, which makes it possible to determine and comprehensively analyze the body’s functional capabilities, is the assessment of exercise tolerance. The diagnostic value of analyzing the tolerance level lies in assessing the impact of various pathological conditions on the child’s health, and quality of life. The obtained results can be used to develop rehabilitation measures to eliminate the symptoms of acute diseases and improve the quality ofi fle. Tests with dosed physical exertion are used to assess exercise tolerance. The «gold standard» of the technique is cardiopulmonary exercise testing. However, world tolerance assessment guidelines include the use of other types of tests, such as office and field tests. The «gold standard» for assessing tolerance is the determination of the maximum oxygen consumption (VO2max), which characterizes the maximum amount of oxygen that is absorbed and used by the body during intense physical exertion involving a large possible part of the muscles. Also, during exercise tests, heart rate, blood pressure, and electrocardiogram recording are monitored, which creates significant diagnostic search opportunities for the pediatrician.

Patient with non-cardioembolic ischemic stroke or high-risk transient ischemic attack. Part 1. Diagnosis

Non-cardioembolic stroke and transient ischemic attack (TIA) are heterogeneous conditions, some variants of which are associated with a high short-term and long-term risk of cardiovascular events. The article presents clinical portraits of patients in high and very high risk groups: 1) patients with extracranial atherosclerosis and severe stenosis/subocclusion/occlusion or CT signs of atherosclerotic plaque instability; 2) all patients with intracranial atherosclerosis, especially those with symptoms of hemodynamic compromise or multiple infarcts; 3) all patients with mobile/ulcerative atheroma of the aortic arch. For the timely identification of these subtypes, it is necessary to use clinical and radiological clues with necessary diagnostic search. In addition, the following patients with TIA may be at high or very high risk: those with an ABCD2 score of ≥4 points or an ABCD3-I score of ≥8 points; with TIA in the vertebrobasilar basin, "crescendo" or "limb shaking" type, orthostatic TIA, as well as patients with warning capsular and bridge syndromes. Assigning a patient to one of the considered categories requires the immediate administration of enhanced secondary prevention, which will be discussed in the second part of this article.

Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

BACKGROUND: Achondroplasia and pseudoachondroplasia are hereditary systemic skeletal dysplasias characterized by a certain similarity of clinical manifestations; however, they have different etiopathogenetic mechanisms and confirmation methods for molecular genetic diagnosis. Their common phenotypic features often make differential diagnosis difficult during the clinical examination of patients, planning DNA diagnostics, and appropriate time detection of neurosurgical and orthopedic complications.
 AIM: This study aimed to identify differential diagnostic criteria for achondroplasia and pseudoachondroplasia and optimize the strategy for their molecular genetic diagnosis.
 MATERIALS AND METHODS: A comprehensive examination of 76 children from 74 unrelated families aged 1 month to 18 years with phenotypic signs of achondroplasia and pseudoachondroplasia was conducted. To clarify the diagnosis through genealogical and amnestic analysis, clinical and neurological examination data according to the standard method and radiographic data were used. Molecular genetic confirmation of diseases was conducted by searching for hotspot mutations in the FGFR3 gene, assessing the number of GAC repeats located in exon 13 of the COMP gene, and new-generation sequencing of the target panel consisting of 166 genes responsible for hereditary skeletal pathology.
 RESULTS: Based on a comparative analysis of the specific phenotypic characteristics, the criteria for the differential diagnosis of achondroplasia and pseudoachondroplasia were identified. The leading signs of achondroplasia are disproportionate nanism from birth, macrocrania, and facial dysmorphism, which are not specific to pseudoachondroplasia. Certain radiological features are essential in the differential diagnosis of pseudoachondroplasia, which should be considered when referring to patients for molecular genetic analysis. A deletion of the GAC repeat c.1417_1419del in the COMP gene was identified in 27% of patients with pseudoachondroplasia. Thus, the analyses of these two mutations in FGFR3 and COMP were conducted first. In the absence of target mutations, further diagnostic search should be continued with a target panel consisting of 166 genes responsible for hereditary skeletal pathology or whole-exome sequencing.
 CONCLUSIONS: The analysis of the clinical, radiological, and molecular genetic characteristics of patients with achondroplasia and pseudoachondroplasia, together with the literature data analysis, made it possible to clarify the differential diagnostic criteria for these diseases and optimize the algorithm for their molecular genetic diagnosis.

KIKUCHI-FUJIMOTO DISEASE: THE FIRST CLINICAL OBSERVATION OF A RARE CASE IN KAZAKHSTAN

Relevance: Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare underlying cause of benign lymphadenopathy, typically accompanied by fever and fatigue. Diagnosing this rare condition causes difficulties. Even though more than half a century has passed since the first described case, KFD is still hard to diagnose. Therefore it is of utmost importance to perform all the necessary diagnostic tests to avoid misdiagnosing and prescribing the wrong and often too-aggressive treatment. This article describes the first clinical case of KFD in the Republic of Kazakhstan.
 The study aimed to share the clinical course and the specifics of a diagnostic search involving histological and immunohistochemical tests in KFD.
 Methods: The paper describes a clinical case of KFD.
 Results: We reported a case of KFD in a 35-year-old man who applied for cervical lymphadenopathy and fever. The diagnosis was made on histological and immunohistochemical analysis of a lymph node. Rapid regression of lymphadenopathy marked the evolution of the disease.
 Conclusion: This clinical observation describes a rare case of KFD; its cases have not been previously described in Kazakhstan. KFD is prone to the benign course and spontaneous regression. However, difficulties remain in KFD diagnosis since symptoms such as lymphadenopathy and fever more often resemble lymphoma or tuberculosis. Non-tumor lymphadenopathy can also produce high metabolic activity manifested by an intensive accumulation of radiopharmaceuticals, according to PET-CT. Clinicians should be highly suspicious of KFD in young patients with cervical lymphadenopathy and fever to avoid misdiagnosis.

Application of the infrared thermography method in diagnosis of Raynaud`s phenomenon

The development of modern diagnostic medicine, the important task of which is the use of non-invasive methods for detecting a disease without impact of radiation exposure, has led to the spread of the method of infrared thermography, which allows to quickly and informatively identify pathological conditions of a person within a single examination. The main complaints characteristic of Raynaud's phenomenon are associated with cold, hyperemia, edema, and a feeling of paresthesia in the limbs. A significant number of scientific works have been devoted to the study of the Raynaud's phenomenon, where basically, examples of manifestations of Raynaud's phenomenon are given in the form of a violation of the microcirculation of the distal parts of limbs. Comprehensive studies of the combination of Raynaud's phenomenon with concomitant diseases, according to the authors, are insufficiently covered. The application of sophisticated modern laboratory diagnostic methods to detect this disease is nonspecific and burdensome for the patient. Thermographic diagnostics within one examination reveals both the presence of signs of Raynaud's phenomenon and concomitant somatic diseases. This paper presents the results of many years’ thermographic research, demonstrating the variety of manifestations of the Raynaud's phenomenon. For the first time, it has been shown that patients with signs of Raynaud's phenomenon, as a rule, have concomitant somatic diseases, which should be the subject of research of specialists in different medical fields to determine the relationship of Raynaud's phenomenon with the identified diseases. The results of visualization of thermoasymmetries of the skin of various pathological conditions during a complex thermographic examination were obtained, which greatly simplify the diagnostic search and understanding the complexity and danger of Raynaud's phenomenon. Of particular importance are the results of work for the differential diagnosis of complications of diabetes mellitus – diabetic foot syndrome. The paper presents some results of thermographic examinations of patients with signs of Raynaud's phenomenon and identified pathological changes in the body.

Diagnosis, surgical and conservative treatment of unstable sacral fractures (literature review)

Background. In the structure of severe combined trauma, injuries to the pelvic bones, especially the sacrum, are relatively rare but increase steadily with the scientific and technological progress and the urbanization. Despite the widespread use of modern diagnostic methods, such as computer and magnetic resonance imaging, and the ubiquity of X‑ray diagnostics, sacral fractures are diagnosed not in all patients or not in full. In 50 % of patients, sacral fractures are not diagnosed during the initial examination, including anteroposterior X‑ray examination. In addition, in 30 % of the patients, sacral fractures are recognized on a pelvic X‑ray film incorrectly, and the long‑term outcomes of their treatment are unsatisfactory from 30 to 60 % of the cases.Aim. To analyze scientific published sources on the issues of diagnosis, clinical picture, and treatment of patients with severe combined trauma and unstable sacral fractures.Materials and methods. The data of 232 domestic and foreign publications from 1971 to 2020. We present the epidemiology of combined trauma and unstable sacral fractures, consider various classifications, and describe the clinical course and tactics in conservative and surgical treatment of vertically unstable fractures in the posterior pelvic ring.Results. Many foreign publications describe both diagnostics and various methods of treatment for unstable pelvic ring injuries. The publications cover various aspects of diagnosis, clinical course, management tactics, extent and timing of surgery, and conservative treatment for sacral fractures. However, only a few publications in Russian discuss features of diagnostic search, the timing and extent of surgery, as well as the choice of the final tactics to treat patients with sacral fractures.Conclusions. It is necessary to study the problem of diagnosis and treatment of severe combined trauma and vertically unstable fractures of the posterior pelvic ring to develop optimal diagnostic algorithms and final treatment tactics aimed at reduction of the frequency of errors, complications, and deaths, and at improvement in the quality of life of such patients.

Brain metastases of cancer of unknown primary: presentation of clinical cases

Background. Metastases to the brain (brain metastases (BM)) are the most common intracranial tumors in adults and occur 3–10 times more frequently than primary brain tumors. In 15% of patients with BM, the primary tumor cannot be determined, which is known as BM cancer of unknown primary. Cancer of unknown primary is the seventh/eighth common malignancy and the fourth leading cause of cancer-related death, often characterized by early and aggressive metastatic spread, poor response to chemotherapy, and poor prognosis. Purpose – To study the course of brain metastases in cancer of unknown primary on the example of clinical cases. Materials and methods. Clinical observation of male patient N., 50 years old, who was diagnosed with a metachronous disease with metastatic damage to the lymph nodes, the excisional biopsy of which established a metastasis of squamous non-keratinous carcinoma and a solitary voluminous neoplasm of the brain, which during the initial examination was considered as IV glioma. Clinical observation of patient B., 40 years old, in whom the primary manifestation of the disease was a solitary neoplasm of the brain, the pathohistological examination of which was regarded as a metastasis of grade III small cell neuroendocrine carcinoma, but the localization of the primary cancer was not established. The examination and treatment were performed in the State Organization «Grigoriev Institute for Medical Radiology and Oncology of the National Academy of Medical Sciences of Ukraine». Results. The clinical cases of BM cancer of unknown primary in two patients aged 50 and 40 years old, which according to histopathological examination were probably low-differentiated squamous cell adenocarcinoma, are presented. The difficulties of diagnostic search for primary cancer and treatment of such patients are shown. Conclusion. Brain metastases cancer of unknown primary, as well as the differential diagnosis of primary brain gliomas and solitary metastases, remain a complex diagnostic and therapeutic medical problem that is a challenge for oncologists, neurosurgeons and neurologists alike. Further study of this problem is necessary for the effective treatment of such patients.

Нейрошкірний меланоз (хвороба Рокітанського) як рідкісна причина епілептичних нападів у педіатричній практиці

Neurocutaneous melanosis is a rare disease belonging to the group of phakomatoses, characterized by the presence of giant melanocytic nevi on the skin and melanocytic infiltration of the parenchyma and meninges, as well as a high risk of neurological complications and malignancy. Purpose - to analyze the information of modern specialized literature on the etiology, pathogenesis, approaches to diagnosis and treatment of a rare orphan disease - neurocutaneous melanosis (Rokitansky's disease) and to describe clinical cases of this disease. A review of the scientific literature and a personal case of diagnosis and treatment of two patients are given. In the first case, the clinical history of a boy aged 1 year and 4 months is presented with neurocutaneous melanosis and Dandy-Walker anomaly, complicated by frequent drug-resistant epileptic seizures. In the second case, a description of the medical history of a 14-year-old boy with newly diagnosed neurocutaneous melanosis complicated by progressive obstructive hydrocephalus and generalized tonic-clonic seizures is presented. MRI features deserve special attention, namely specific changes in the T2-weighted mode, which reveals typical areas of hyperintense signal in the brain parenchyma and from the dura mater (leptomelanosis). It is the neuroimaging data with a high probability that gives reason to assume the correct diagnosis, reducing time and costs for additional examinations. There is no pathogenetic treatment for this disease. For the symptomatic treatment of obstructive hydrocephalus, surgical intervention is used, and in the presence of epileptic seizures, anticonvulsant therapy is used. Conclusions. The given clinical observation confirms the complexity of the diagnostic search for orphan diseases of the nervous system. Objective examination data and neuroimaging methods (CT and MRI of the brain and spinal cord) play a key role in the diagnosis of neurocutaneous melanosis. 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 interests was declared by the authors.

Mixed infection with COVID-19 and tropical malaria (case report)

This article describes a clinical case of mixed infection with COVID-19 and tropical malaria. Patient Z., 37 years old, arrived from the Central African Republic with a diagnosis of New coronavirus infection COVID-19, confirmed (PCR RNA SARS-CoV-2+ from January 27, 2022) mild form. During an objective examination, the subictericity of the sclera and skin integument attracted attention. During thermometry, an increase in body temperature to 39.0C was found. Consciousness at the level of somnolence was observed. Hemodynamics was unstable, with episodes of arterial hypotension; heart rate was 96 beats per minute. Respiratory rate was 24 breaths in 1 minute, SpO2 95%, and with inspiratory dyspnea. According to the patients laboratory study results, severe thrombocytopenia, apparent signs of hepatic and renal insufficiency, hyperbilirubinemia, increased concentrations of C-reactive protein, and procalcitonin were revealed. A differential diagnostic search was performed between acute viral hepatitis and malaria. Blood microscopy revealed young trophozoites of Plasmodium falciparum (++++) using the thick drop method. Antimalarial therapy with Malacur was prescribed, which was then replaced with parenteral Quinine followed by mefloquine. In parallel, extracorporeal detoxification operations were performed. The patients condition was stabilized against adequate etiotropic therapy and complex intensive care measures. On the 40th day, the patient was discharged restored health.
 The purpose of demonstrating a clinical case is to attract increased attention to the problem of imported cases of malaria, which, when combined with COVID-19 infection, may remain unrecognized for a long time, especially in cases where the diagnosis of COVID-19 receives rapid laboratory confirmation.
 Adequate and timely antimalarial therapy, including a complex of intensive care measures supplemented with extracorporeal detoxification methods, is the basis for a successful outcome in patients with severe malaria with the development of severe complications.

Granulomatous bowel disease: Crohn’s disease and tuberculosis. Difficulties in differential diagnosis (case report and review)

Diagnosis of extrapulmonary forms of tuberculosis is still challenging. Abdominal tuberculosis has no pathogno- monic signs, so most patients had various diagnoses. In this clinical case, the diagnostic difficulties are due to the absence of a history of tuberculosis and the manifestation of the isolated tuberculosis process in the intestine. This forced us for a wide differential diagnostic search to exclude inflammatory bowel diseases and neoplasms and required the multidisciplinary team. This approach, awareness and alertness of specialists regarding extrapulmonary forms of tuberculosis made it possible to achieve success in this patient.

Features of ultrasound diagnostic syndesmotic ankle injuries in middle and older children: prospective comparative study

BACKGROUND: Diagnostics and treatment of syndesmotic ankle injuries in children is one of the important problems in pediatrics. The generally accepted examination algorithms and standards developed for adult patients do not apply to children. The ligamentous apparatus in children is much more elastic, and the tibiofibular space is smaller, which significantly complicates the diagnostic search.
 OBJECTIVE: This study aimed to create a diagnostic algorithm for examining middle and older children with ankle joint injuries.
 MATERIALS AND METHODS: To create a diagnostic algorithm, whether the ultrasonographic stress test of external foot rotation in adult practice is relevant for patients with closed growth zones was investigated. Two open cohorts of middle and older children were formed. The first cohort included children aged 1114 years with a closed growth zone of the distal tibia, and the second cohort included children aged 1517 years with a closed growth zone. The inclusion criteria were the absence of injuries of the studied ankle joint and the correspondence of the body mass index to the age norm.
 RESULTS: The variability of the tibiofibular space during the stress test of external foot rotation in children with a closing growth zone averages 3.035 mm and in children with a closed growth zone was 2.319 mm. Data indicate a high degree of elasticity of the anterior tibialperoneal ligament in children in contrast to adults in whom this structure is more rigid. In children experiencing pain, active muscle resistance makes the test of internal rotation ineffective, and excessive elasticity of the structure in the area of a healthy joint does not give a correct comparative result for the operator.
 CONCLUSION: The use of a test with internal rotation for diagnosing damage to the distal tibiofibular syndesmosis in children with closing and closed growth zones is limited, and the operator must rely on other ultrasound signs of damage to this structure.

Chronic Diarrhea as a Debut Manifestation of Crohn’s Disease in Infant: Clinical Case

Background. Chronic diarrhea can be a symptom of a wide variety of diseases, either of which requires special therapy approaches. The diagnosis of rare causes of chronic diarrhea is especially difficulty as it may be associated with inflammatory bowel disease (IBD) with very early (under 1 year of age) debut.Clinical case description. Boy E. had chronic diarrhea manifested on the first year of life. Ulcerative colitis was diagnosed at the age of 1.5 years, then the diagnosis was changed to Crohn’s disease at the age of 2.5 years. The results of 6-years-follow-up of the patient were presented, as well as analysis of diagnosis and treatment difficulties was carried out.Conclusion. The clinical case of Crohn’s disease with diarrhea as the leading clinical manifestation at the disease onset is described. Sequential diagnostic search allowed us to establish the diagnosis of IBD and to exclude other causes of chronic diarrhea that determined the correct therapeutic strategy.

Cyclic Cushing's syndrome: difficulties of diagnostic search and choice of treatment tactics. A clinical case

Cyclic Cushing's syndrome is a pathological condition characterized by alternating periods of excessive cortisol secretion with corresponding clinical manifestations and periods of spontaneous remission of the disease.To diagnose Cyclic Cushing's syndrome it is necessary to record at least three episodes of excessive cortisol secretion alternating with periods of normalization of its production.In most cases, this pathology is diagnosed in patients with ACTH-secreting pituitary tumor, however, there are rare cases of cyclic hypercorticism with ectopic ACTH secretion by tumors of different localization and without verification of pathological hormonal secretion focus. In addition, cyclic hyperproduction of cortisol can be also observed in ACTH-independent Cushing's syndrome associated with the presence of corticosteroma or adrenal hyperplasia. The exact causes and mechanisms of the cyclic hypercorticism are currently insufficiently studied.Due to the atypical course of the disease, the unpredictability of the occurrence of a new «cycle», the variability of its duration and manifestations (not only in different patients, but also in the same patient), verification of the diagnosis and determination of treatment tactics may be difficult in the daily practice of specialists, and the prevalence of this condition can be undervalued.

UPDATED CLINICAL PROTOCOLS OF INHERITED FATTY ACID OXIDATION DISORDERS IN NEWBORNS: CONSOLIDATED DATA FROM THE INTERNATIONAL CLINICAL GUIDELINES

Fatty acid oxidation disorders (FAODs) are a group of inherited metabolic diseases (IMDs) caused by impairments in mitochondrial β-oxidation of fatty acids (FA) due to defects in genes encoding enzymes, transporters, membrane channels, and receptors that mediate this process. A common characteristic of this group of IMDs is an energy deficit associated with suppression of energy metabolism in mitochondria due to a decrease in the production of ketone bodies and the substrate of the tricarboxylic acid cycle – acetyl-coenzyme A. Since energy deficiency is a common pathogenetic factor of the entire group of FAODs, the manifestation of these inherited diseases is similar, and only certain nosologies have specific differences in the clinical picture, accordingly, these disorders require similar treatment. Initial manifestations of FAODs in neonatal and early childhood most often include cardiomyopathy, liver dysfunction, and hypoketotic hypoglycemia. For newborns with FAOD, the main danger is rapidly progressing crisis states of metabolic decompensation with severe, often fatal consequences. In adolescence, in addition to the above severe symptoms, episodes of rhabdomyolysis may also occur.Since long intervals between meals are one of the main factors provoking episodes of metabolic decompensation in patients with FAODs, the key tool for their prevention is the avoidance of prolonged fasting. In cases of the development of metabolic crisis states, symptomatic treatment is used with the introduction of carnitine according to indications. The special role of carnitine is its involvement in the transport of long-chain fatty acids through the mitochondrial membrane. Treatment of FAODs caused by a deficiency of enzymes whose substrates are long-chain fatty acids involves the use of a low-fat diet and the addition of medium-chain triglycerides and docosahexaenoic acid to the diet. Success in treating IMDs as such and FAODs, particularly, is directly related to early detection of the disease and treatment beginning since the destructive effect of toxic metabolites on internal organs and the brain increases according to the duration of exposure, leading to their progressive damage and delay in physical and mental development.An effective tool for the early detection of newborns with IMDs is the extended neonatal screening program, the implementation of which, according to the WHO, has become the greatest achievement of the health care systems of the developed countries of the world in reducing the levels of child mortality and disability in the first 10 years of the 21st century. In 2019, the program of extended newborn screening of IMDs was started in Ukraine at the initiative of the State Institution “Institute of Pediatrics, Obstetrics and Gynecology named after Academician O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine”, “Association of Neonatologists of Ukraine” and “CDC Pharmbiotest” (Baby Screen, https://baby-screen.com.ua).One of the main reasons that limit the general use of this diagnostic procedure is doctors' lack of awareness and attention regarding IMDs, the causes of these serious diseases, diagnostic search algorithms, approaches to treatment, and patient follow-up. There is an urgent need for concise medical information that includes: a brief description of the individual genetic defect; characteristics of biochemical disorders and a list of marker substances that accumulate in the blood and urine of a newborn with IMDs; procedures of primary and clarifying laboratory studies; clinical manifestations of the disease; treatment strategy and prognosis. At the discretion of the Baby Screen team, this information is provided in the form of concise protocols.In this publication, we present eight Clinical Protocols, which were prepared by a team of specialists in metabolic pediatrics, medical genetics, and laboratory analytics, who were trained in the leading medical and genetic centers of the EU countries and regularly participate in training and scientific-practical seminars on this topic. The sources of information given in the protocols are international and national guidelines on extended neonatal screening, websites of leading organizations specializing in the diagnosis and treatment of IMDs, and well-known monographs and periodicals.

Peculiarities of the methodology, diagnostic value, and global recommendations for assessing exercise tolerance in children (literature review, own research)

Assessment of exercise tolerance is one of the methods for clinical diagnosis of health status, which makes it possible to determine and comprehensively analyze the degree of physical fitness of a patient, his ability to tolerate physical exertion, and the adaptation capabilities of the body. The level of exercise tolerance plays a major role in assessing health status and quality of life of children and adolescents, as it depends on a whole set of factors, namely: the functional properties of the cardiovascular, respiratory, and musculoskeletal systems and the level of physical fitness. Tests with dosed physical activity are used to assess exercise tolerance. The diagnostic value of methods for evaluating exercise tolerance consists in the possibility of constant monitoring of heart rate, blood pressure, recording of an electrocardiogram, fixation of the level of blood oxygen saturation, determination of peak or maximum oxygen consumption obtained by direct and indirect methods during the test. The interpretation of the obtained results creates significant opportunities in terms of the diagnostic search for a pediatrician. The purpose of the work is to summarize the literature data about peculiarities of the tests with dosed physical activity, their diagnostic value, and global recommendations for assessing exercise tolerance in children, to evaluate the results of own research.