Diagnosis Of Disease In Children Research Articles

Path Towards Biopsy-Free Diagnosis of Celiac Disease in Pediatric Patients

BackgroundLaboratory testing for celiac disease in pediatric patients integrates serology, genetic susceptibility and duodenal biopsy examination. The 2023 American College of Gastroenterology guidelines recommend a biopsy-free approach in pediatric patients utilizing tissue transglutaminase antibody titers >10 times upper limit of normal and subsequent endomysial antibody seropositivity as sufficient for diagnosis. The objective of this study is to assess the diagnostic accuracy of biopsy-free approach at our pediatric hospital. MethodsWe conducted a retrospective study involving pediatric patients who underwent biopsy for diagnostic confirmation of celiac disease between May 2019 and May 2023. For these patients, the tissue transglutaminase and endomysial antibody test results were retrieved and performance of biopsy-free approach was assessed using the duodenal histology as the gold standard for celiac disease diagnosis. ResultsTissue transglutaminase antibody titers >10 times upper limit of normal alone demonstrated a positive predictive value of 99% for identifying celiac disease in children. Although endomysial antibody testing is underutilized at our center, its inclusion further improved the predictability to 100 %. ConclusionPositive predictive value of tissue transglutaminase antibody titers >10 times upper limit of normal is sufficiently high for celiac disease diagnosis in children and may allow for deferral of duodenal biopsy at diagnosis.

Effectiveness of simulation-based communication training for cardio pediatricians in announcing congenital heart disease diagnosis in children: A randomized controlled trial (SIMUL - CHD)

Effectiveness of simulation-based communication training for cardio pediatricians in announcing congenital heart disease diagnosis in children: A randomized controlled trial (SIMUL - CHD)

A Proposed Model Expert System for Disease Diagnosis in Children to Make Decisions in First Aid

Children have a weaker immune system than adults. They are susceptible to disease. Therefore, this study proposes an expert system model of disease diagnosis in children. We develop expert strategies to meet the needs of alternative diagnostic tools in making decisions and first aid for children suffering from illness. The development of an expert system model for diagnosing children's diseases using forwarding chaining based on If-Then as an inference engine. We chose the forward chaining method because it has a framework for thinking like a doctor's when diagnosing and concluding the disease. We made testing to model by doctors with 35 patients. The test results show that the expert systems model of disease diagnosis in children in this research has to be used as an alternative or comparison diagnostic tool with an accuracy rate of 79%.

Role of esophageal symptoms in the diagnosis of gastroesophageal reflux disease in children with recurrent and chronic respiratory diseases

Gastroesophageal reflux disease (GERD) is one of comorbid diseases, that worsen the course and outcomes of respiratory pathology. The study aimed to determine role of esophageal symptoms in the diagnosis of GERD in children with recurrent and chronic respiratory diseases (RCRD). The study included 125 children (70 boys, 55 girls), median 3,75 years (interquartile range, IQR – 1,21-9,38 years), with RCRD, refractory to standard therapy. GERD was diagnosed on the basis of clinical and complex instrumental examination, including fluoroscopy esophagus with contrast, esophagogastroduodenoscopy (EGDS), 24-hour esophageal pH-monitoring, dual pH-multichannel intraluminal impedance (pH-MII). In children with RCRD, the frequency of GERD was 86,4%. Among children without esophageal manifestations of GERD, pathological reflux was confirmed by instrumental methods in 81% of patients; in children with esophageal manifestations - 92%, with no statistically significant differences (p = 0,0637). Nonacid reflux is more common in patients without esophageal manifestations of GERD. The frequency of GERD in children with RCRD is very high. It is possible to screen GERD in children with RCRD, independent on the presence of clinical esophageal symptoms.

Role of Liver Biopsy in the Diagnosis of Liver Diseases in Children

Role of Liver Biopsy in the Diagnosis of Liver Diseases in Children

Role of Liver Biopsy in the Diagnosis of Liver Diseases in Children

Role of Liver Biopsy in the Diagnosis of Liver Diseases in Children

Неалкогольна жирова хвороба печінки в дітей: сучасний погляд на можливості діагностики та лікування (I частина)

На цей час неалкогольна жирова хвороба печінки (НАЖХП) визнана провідною нозологічною формою в структурі хронічних дифузних захворювань печінки в дітей та підлітків у промислово розвинутих країнах світу. НАЖХП асоціюється з абдомінальним ожирінням, інсулінорезистентністю, порушенням толерантності до вуглеводів та дисліпідемією, тобто має тісний зв’язок з метаболічним синдромом та є його проявом. Дані досліджень свідчать, що НАЖХП пов’язана з підвищенням рівня загальної смертності та ймовірності формування серцево-судинних захворювань, що не залежить від наявності класичних факторів ризику розвитку атеросклерозу. Спостереження за перебігом захворювання протягом 20 років дозволило встановити скорочення терміну виживаності хворих на НАЖХП порівняно з очікуваним показником у загальній популяції, прогресування ступеня фіброзу у 80 % випадках спостережень, розвиток декомпенсованих форм цирозу печінки з потребою в трансплантації органа в 6 % хворих. Схильність до прогресування структурних змін печінки з розвитком термінальних стадій захворювання — цирозу й гепатоцелюлярної карциноми, висока ймовірність розвитку кардіоваскулярних ускладнень, можливість запобігання прогредієнтному перебігу за умов своєчасного терапевтичного втручання обумовлюють необхідність ранньої діагностики НАЖХП у дітей.Провідними конституціональними факторами ризику розвитку НАЖХП, які модифікуються, у дітей вважаються ожиріння та інсулінорезистентність.Механізм розвитку й прогресування НАЖХП є складним і багатофакторним процесом. У даний час існують дві провідні концепції, що пояснюють патогенез НАЖХП, — теорія двох ударів та теорія багатьох паралельних ударів.НАЖХП у дітей не має певних клінічних ознак і є випадковою знахідкою в асимптомних пацієнтів. Маніфестація захворювання найчастіше відбувається у віці понад 10 років. У клінічній картині НАЖХП у дітей превалюють неспецифічні симптоми: загальна слабкість, швидка втомлюваність, виснажливість.У клінічній практиці зазвичай першим кроком у діагностиці захворювання є виявлення підвищених рівнів печінкових трансаміназ та/або сонографічних ознак стеатозу при рутинному ультразвуковому дослідженні.Установлення діагнозу НАЖХП є можливим за відсутності ознак іншої природи ураження печінки, насамперед вірусного, аутоімунного й медикаментозно індукованого гепатиту.

Ранняя диагностика хронической болезни почек у детей: проблемы и решения

The urgency of the problem of searching for sensitive and specific biomarkers of nephron damage in various pathological conditions is due to the increasing prevalence of chronic kidney disease in children. Currently, chronic kidney disease is determined by a decrease in the glomerular filtration rate, however, this indicator is quite variable, and its fluctuations depend on many factors, such as age, features of the disease, nutrition, and physical activity. The article presents an overview of research on the problem of early diagnosis of chronic kidney disease in children. The advantages and disadvantages of early biomarkers of kidney damage are described, which include NGAL, KIM-1, VEGF, TIMP-1, Type IV collagen, serum creatinine, cystatin C. The conducted studies demonstrate the high diagnostic value of cystatin C in the initial stages of chronic kidney disease.

May cardia mucosa histopathology aid in the diagnosis of gastroesophageal reflux disease in children?

Introduction: Gastroesophageal reflux disease (GERD) is a common diagnosis in children referred to pediatricians. This disease is diagnosed clinically based on the patient’s signs and symptoms; however, there are endoscopic and pathological evaluations to diagnose this disease too. This study evaluated the relationship between GERD and cardia mucosa histopathology in children under six years old. Objectives: Studies on adults with GERD had shown different cardia histopathology related to GERD, and this relationship in children was less evaluated. According to this and the high prevalence of GERD in children. Patients and Methods: Children who were a candidate for endoscopy were selected. Endoscopy was conducted for each participant and biopsies from the cardia area were obtained. In the recovery room, Infant Gastroesophageal Reflux Disease Questionnaire-Revised (IGERQ-R) was completed by children’s parents for identifying GERD in children. Then the relation between the presence of GERD and histopathology of the cardia area was assessed. Results: In this study, 80 children with a mean age of 33.8±20.7 months were evaluated, while 53.8% of them were male. The histopathology finding in participants with GERD was 48.1% oxyntic mucosa and 51.9% oxyntocardiac mucosa with lymphoid aggregation. This histopathology in patients without GERD was 67.9% oxyntic mucosa and 32.1% oxyntocardiac mucosa with lymphoid accumulation. There was a significant relationship between GERD and cardia mucosa type (P=0.043). Conclusion: Children with GERD had different cardia histopathology compared with those without reflux disease.

Muscle Ultrasonographic Elastography in Children: Review of the Current Knowledge and Application

Ultrasonographic elastography is a relatively new imaging modality for the qualitative and quantitative assessments of tissue elasticity. While it has steadily gained use in adult clinical practice, including for liver diseases, breast cancer, thyroid pathologies, and muscle and tendon diseases, data on its paediatric application is still limited. Moreover, diagnosis of muscular diseases in children remains challenging. The gold standard methods, namely biopsy, electroneurography, and electromyography, are often limited owing to their invasive characteristics, possible contraindications, complications, and need for good cooperation, that is, a patient’s ability to perform certain tasks during the examination while withstanding discomfort, which is a significant problem especially in younger or uncooperative children. Genetic testing, which has broad diagnostic possibilities, often entails a high cost, which limits its application. Thus, a non-invasive, objective, repeatable, and accessible tool is needed to aid in both the diagnosis and monitoring of muscle pathologies. We believe that elastography may prove to be such a method. The aim of this review was to present the current knowledge on the use of muscle elastography in the paediatric population and information on the limitations of elastography in relation to examination protocols and factors for consideration in everyday practice and future studies.

The condition of the oral cavity at the time of\xa0diagnosis of\xa0inflammatory bowel disease in pediatric patients

Changes in the oral mucosa can appear in the course of inflammatory bowel disease in both children and adults. They often precede the appearance of gastrointestinal symptoms. The aim of the study was to determine the nature of changes in the oral cavity at the time of diagnosis of inflammatory bowel disease in children compared to children without systemic diseases. 49 children diagnosed with inflammatory bowel disease and 60 children without systemic diseases were examined. The prevalence of the aphthae stomatitis and angular cheilitis was 24.5% in the examined group and 10% in the control group (p = 0.0772). Changes in the oral mucosa occurred more frequently in children with Crohn's disease 35.3% than with ulcerative colitis 18.7%. In children with Crohn's disease, the most frequently observed lesion was aphthous stomatitis 23.5%, and in ulcerative colitis, angular cheilitis 12.5%. Changes in the oral mucosa are a therapeutic problem requiring in general diseases patients both local and systemic treatment and interdisciplinary cooperation between dentists, paediatricians and gastroenterologists. The finding of repeated changes in the oral mucosa during a dental examination should be the reason for referring the patient to a paediatrician for the foreclosure or make a diagnosis of inflammatory bowel diseases.

Rationale for endomyocardial biopsy in the diagnosis of heart disease in children and adults

Endomyocardial biopsy (EMB) is the method of choice for diagnosing a wide range of myocardial diseases.Aim. To assess the rationale for diagnostic EMB in children and adults.Material and methods. Morphological and statistical analysis of 2803 diagnostic EMBs in adults (n=811) and children (n=83), including those in heart transplantation (n=1909), was carried out.Results. In 231 (28%) cases, adults were diagnosed with myocarditis, of which in 6 patients — granulomatous, in 5 — eosinophilic and in 6 — lymphocytic-macrophage myocarditis after coronavirus infection. In children, myocarditis was found in 22 cases (27%). Arrhythmogenic right ventricular dysplasia took the second place in detection rate in children and adults. Immunohistochemical study revealed viral envelope protein 1 (VP1) antigen of enteroviruses in one third of myocarditis cases, and in half — other cardiotropic viruses. Dotted dystrophin expression was observed in myocarditis. A correlation was established between the perforin expression and myocarditis presence (Pearson χ2=27,8; Fisher's exact test=27,3; p=0,01).Conclusion. Analysis of diagnostic EMB results confirmed its rationale in adults and children not only for heart transplantation, but also for identifying cardiac pathology, including for myocarditis diagnosis. It has been shown that immunohistochemical study with antiviral antibodies can be considered as an alternative method for detecting viral infection. An immunohistochemical analysis for perforin and dystrophin can be recommended as additional morphological markers of myocarditis.

О проблемах ранней диагностики интерстициальных заболеваний легких у детей (разбор клинического случая)

В статье представлены литературные данные о распространенности, этиологии, патогенезе, основных клинических проявлениях, современных методах ранней диагностики и прогнозе интерстициальных заболеваний легких у детей. Приведен случай собственного клинического наблюдения интерстициального заболевания легких у ребенка 5 месяцев. Отмечены особенности течения и манифестации клинических признаков этого заболевания у данного пациента. Приведенный случай демонстрирует сложность ранней диагностики интерстициальных заболеваний легких у детей, а своевременная диагностика на ранних, еще обратимых стадиях заболевания и адекватная терапия могут предотвратить прогрессирование болезни и улучшить прогноз.

Сравнительная клинико-параклиническая характеристика язвенного колита и болезни Крона у детей

Цель: изучить клинико-параклинические особенности язвенного колита и болезни Крона в качестве основы совершенствования диагностики воспалительных заболеваний кишечника у детей. Материалы и методы. Обследовано 94 ребенка в возрасте от 3 до 18 лет с воспалительными заболеваниями кишечника. Из них 60 пациентов с язвенным колитом, 34 — с болезнью Крона. Сравнительная клинико-параклиническая характеристика течения язвенного колита и болезни Крона проводилась с использованием клинических, иммунологических, морфологических методов исследования. Результаты. Анализ клинико-параклинического течения язвенного колита и болезни Крона у детей показал, что наряду с общими характеристиками имели место существенные различия, своевременное выявление которых способствовало уточнению диагноза, назначению адекватной терапии, что значительно улучшало прогноз течения заболевания, повышало качество жизни пациента.

Laboratory comparison of stool processing methods for Xpert® Ultra.

TB disease diagnosis in children is difficult due to non-specific symptoms, paucibacillary disease and the need for invasive procedures to obtain diagnostic specimens. In many settings, these specimens are simply not collected and therefore stool, easily obtained, has emerged as a promising specimen for the diagnosis of child TB. In this study, stool from a healthy adult was spiked with known concentrations of bacille Calmette-Guérin vaccine and tested using the Xpert® Ultra assay to determine the relative detection and error rate associated with four different published stool processing methods.

Comorbidity in children with gallstone disease

According to the WHO report, in 44.0% of cases of the adult population, comorbidity is formed, which increases with the age of the patients. Meanwhile, early detection and impact on a single etiopathogenetic mechanism of comorbid diseases will not only reduce the number of diseases in one and the same patient, but also help solve the problem of polyprogmasia and disability of patients. In pediatric practice, there are isolated works devoted to the problem of comorbidity, in connection with which our studies on the study of comorbid conditions in children with cholelithiasis (cholelithiasis) are of particular interest.Purpose. The aim of this study was to improve the early diagnosis of comorbid diseases in children with cholelithiasis for the development of therapeutic and prophylactic measures and rehabilitation of patients with cholelithiasis.Material and methods. This study involved 146 children with cholelithiasis (GSD), selected based on the results of appeals to the consultative-polyclinic and inpatient departments of the State Budgetary Healthcare Institution of the Children’s Regional Clinical Hospital of Krasnodar. Children were divided into three groups according to the number of comorbid diseases. Group I consisted of 59 children, including 38 girls (26.0%) and 21 boys (14.4%), whose average age was 8.6 ± 4.5 years, with 3 comorbid diseases. Group II — 57 children, (29–19.7% girls and 28–19.2% boys, average age was 9.1 ± 4.4 years, with 5 comorbid diseases. Group III — 30 children (14–9.6% of girls and 16–11.0% of boys), the average age was 10.3 ± 4.7 years with 6 or more comorbid diseases.The clinical trial protocol was approved at a meeting of the ethnic committee of the KubSMU, Krasnodar.Conclusion. Comorbidity in children with gallstone disease is common. Among them, functional disorders of the biliary tract are in the lead. Among chronic diseases of the digestive tract, diseases of the upper sections of the digestive tract are significantly more common, and somewhat less often of the liver and pancreas. More than half of children with gallstones have comorbidity of other organs and systems, in particular, diseases of the upper respiratory tract and urinary system are more often determined. Comorbid diseases increase the severity of the condition and worsen the prognosis of the disease. Diagnosis of comorbid conditions should be thorough in order to select adequate therapy, taking into account the combination of drugs. At the same time, the environment is one of the risk factors for the development of children with gallstone disease.

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.

The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality. Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years). Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes. Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.

Современное состояние диагностики целиакии в Узбекистане: проблемы и решения

Objective. To study the state of diagnosis, clinical manifestation and laboratory changes in children with celiac disease in the Republic of Uzbekistan. Patients and methods. The article presents a description of 64 newly diagnosed cases of celiac disease registered in the Republican Specialized Scientific and Practical Medical Center of Pediatrics. Celiac disease was diagnosed according to the ESPGHAN criteria. Results. Out of 64 patients, celiac disease was more frequently diagnosed among girls (69.6%), the median age at diagnosis was 5.3 ± 0.6 years. Classic symptoms were observed in 46 (71.9%) patients, the number of patients with extraintestinal manifestations was 18 (28.1%). In classical celiac disease, the most common intestinal symptoms were bloating, diarrhea, and severe protein-energy malnutrition (p ≤ 0.05; p ≤ 0.0001). Among the patients with extraintestinal manifestations, there were more often children with subnanism (p ≤ 0.05). Hemoglobin and calcium levels decreased with the same frequency in atypical and typical forms of celiac disease; there was an increase in the level of alkaline phosphatase in both groups, but higher amounts were found in typical forms of the disease. The majority of patients had a histological study of the intestinal mucosa according to Marsh III, most commonly – IIIc (total villous atrophy). Conclusion. The diagnosis of celiac disease in children living in Uzbekistan is established with a considerable delay. Most patients have classic symptoms accompanied by intestinal manifestations. It is essential to be alert to the diagnosis of celiac disease in patients with extraintestinal manifestations in the absence of diarrhea. In this regard, it is necessary to raise doctors’ awareness of the diagnosis of atypical forms of the disease, as well as to improve their knowledge about different manifestations of celiac disease. Key words: celiac disease, extraintestinal manifestations, children, diagnosis

Modern Aspects of Celiac Disease Diagnosis in Children

Celiac disease is an immune-mediated systemic disorder caused by gluten in people with genetic predisposition. Celiac disease is characterized by wide range of clinical manifestations (both gastroenterological and extraintestinal), that can complicate the diagnosis. Thus, celiac disease often remains undiagnosed. ESPGHAN has published updated clinical guidelines with adjusted coeliac disease diagnosis algorithms in 2020. It is proposed to determine antibodies to tissue transglutaminase (TGA-IgA) and total IgA within normal content of gluten-containing products in the diet on the first stage of children screening. The diagnosis of celiac disease can be established without small intestine biopsy in case of increased levels of TGA-IgA ≥ 10 of upper limit of normal and presence of antibodies to endomysium (EMA-IgA) in secondary serum. In such cases, ESPGHAN does not recommend any additional genetic testing to confirm celiac disease as it does not increase the reliability of the diagnosis. Antigen tests on class G or A antibodies against native gliadin are not specific and are not recommended for use in the diagnosis of celiac disease.

The current status of remote diagnosis of von Willebrand disease in children in Russia

The diagnosis of von Willebrand disease (vWD) in children remains a challenge in many regions of our country. This encouraged the Russian Hemophilia Society to create, in 2019, a special diagnostic programme offering remote diagnosis of vWD to patients in regions. Objectives: An interim evaluation of the effectiveness of the programme for remote diagnosis of vWD in children. 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. Under this programme, if advised by a hematologist at the place of residence, a patient's peripheral blood was collected, frozen and sent to the Clinical Hemostasis Laboratory at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Over the period from 11.04.2019 to 07.08.2020, we received 72 frozen peripheral blood samples from children under the age of 18 sent from 21 regions of the Russian Federation. Von Willebrand factor (vWF) ristocetin cofactor activity, vWF antigen levels as well as coagulation factor VIII activity were measured. Out of the 72 samples, only one (1.4%) was inadequate. Reduced vWF activity (30–50%) was observed in 16.7% of cases, and another 16.7% of patients had vWF activity < 30%. VWF antigen levels were 30–50 % in 13.9 % of patients and < 30% in 9.7% of cases. Among the patients with vWF activity < 30%, 1 patient (8.3%) had type 1 vWD, 10 patients (83.3%) – type 2 vWD, 1 child (8.3%) – type 3 vWD. Six children (8.3%) demonstrated reduced factor VIII activity while maintaining normal vWF activity and antigen levels. The coagulation factor VIII activity/vWF antigen ratio was decreased in 8 children (11.1%). The vWD remote diagnosis programme has allowed us to detect abnormalities in 30 patients (41.7%), 16.7% of whom demonstrated laboratory features characteristic of vWD. Eighteen children (25%) require further, more comprehensive laboratory testing. This programme has great potential, especially in underpopulated regions where the development of local diagnostic capabilities may not be economically viable.