The first 1000 days of life represent a critical window for metabolic programming. Adverse exposures during this period, acting through epigenetic mechanisms, can predispose individuals to obesity, type 2 diabetes, and cardiovascular disease across the lifespan. Identifying modifiable risk factors and implementing early interventions offers substantial potential for primary disease prevention. This review aims to consolidate evidence on modifiable risk factors operating during the periconceptional, antenatal, and early postnatal periods, and their impact on epigenetic programming and childhood obesity risk, underscoring the need for preventive strategies starting as early as the preconceptional period and continuing through the first two years of life.
Background . Relapsing polychondritis (RP) is a systemic immunoinflammatory disease characterized by recurrent episodes of inflammation of cartilage tissue and other proteoglycan-rich structures. There are various phenotypes of this disease: from isolated damage of the nose or auricles cartilages to systemic inflammation with laboratory changes imitating various rheumatic pathologies. RP is rare among children as pediatric population is characterized by more frequent involvement of respiratory tract with obstruction and life-threatening stenoses. Its diagnosis is significantly difficult then there are no signs of nasal or auricles chondritis, arthritis, or costochondritis. Case study . This article describes a clinical case of RP in 14-year-old female patient. Disease onset occurred with subglottic laryngeal stenosis and progressive respiratory distress, required tracheostomy. The persistent dyspnea, decrease in body weight, and increase in laboratory activity were undulated. Later, auricles and rib-sternal joints chondritis was revealed. As a result, diagnosis of primary relapsing polychondritis was established. The combined treatment with glucocorticoids and genetically engineered biologic drug, golimumab, led to positive effect: decrease in laboratory activity, significant improvement in breathing, and increase in exercise tolerance. In the absence of any dynamics in subglottic laryngeal stenosis severity according to computed tomography and fibrolaryngoscopy, the patient requires regular monitoring and alertness regarding the possible need for subsequent surgical intervention. Conclusion . Recurrent episodes of airway stenosis combined with systemic inflammation should raise concerns about relapsing polychondritis. Pain and swelling of auricles, nasal septum perforation, costochondritis, and arthritis are not presented in all patients. However, they can occur after the development of life-threatening breathing difficulties, can less bother the patient, and can remain undiagnosed during clinical examination. Clinical and instrumental diagnosis requires participation of multidisciplinary team of specialists.
Background. The annular pancreas (AP) is presented by the ring of pancreatic tissue surrounding the descending duodenum. The sensitivity of instrumental methods for AP diagnosis is limited. The applicability of endoscopic ultrasound (US) for AP diagnosis requires additional research. Case study. A 13-year-old boy. The child had repeated vomiting, abdominal pain, frequent bronchopulmonary diseases (including bilateral pneumonia), and body weight loss since the age of six (according to parents). He was repeatedly hospitalized. Upper mesenteric artery syndrome was suspected based on the computed tomography data. Several other imaging studies have been performed. The diagnosis of AP was suspected for the first time after endoscopic US. Finally, it was confirmed during the surgery — duodenal bypass surgery was performed. The child has shown significant improvement in general condition as well as increase in body weight (according to his mother) 1 year after the procedure. The child was followed-up for 3 years, there were no complaints mentioned previously. Conclusion. Endoscopic US is a relatively new diagnostic tool in the pediatric endoscopists, arsenal. This method’s efficacy in detecting the changes in child's pancreas shape and ductal system was demonstrated.
Background. The epidemiology of pulmonary hypertension (PH) in children in the Russian Federation has not been studied. Currently available data is limited to several foreign registries, mostly limited to the study of PH Group I cases. Objective. The aim of the study is to analyze the prevalence of PH in the pediatric population of the Russian Federation. Methods. Data on PH cases were collected from chief freelance pediatric cardiologists and pediatric cardiology specialists in 85 territorial entities of the country. Requests for data submission were sent January 2021, 2022, and 2023. The study included data from patients aged from 3 months to 17 years with established diagnosis of PH and available catheterization and/or echocardiography results. The PH diagnosis was verified based on mean pulmonary artery pressure (mPAP) values (> 20 mmHg for biventricular circulation and > 15 mmHg in univentricular hemodynamics) or, in their absence, systolic pulmonary artery pressure values (> 36 mmHg). PH clinical groups were created according to the diagnosis in medical records. Publicly available Russian Federal State Statistics Service data on pediatric population (total and by territorial entities) as of January 1, 2022 and 2023 were used to evaluate PH prevalence. Results . The study included data from549 patients with PH from 60 territorial entities of Russia from February 2021 to February 2023. Mean age was 10.0 (4.8) years, with 56% being female. The diagnosis was verified via cardiac catheterization in 71.5% of patients. The overall prevalence of PH was 22.5 cases (95% CI 18.3–27.4) per 1 million pediatric population; PH Group I (pulmonary arterial hypertension; PAH) accounted for 11.8 cases, including idiopathic PAH — 4.18 and PAH associated with congenital heart disease (CHD) — 7.16 per 1 million pediatric population. CHD was associated with 66.4% of all PH cases (Groups I and V). The highest prevalence (7.8 per 1 million pediatric population) was observed for PH cases associated with complex CHD. Conclusion . PH prevalence, its clinical groups and subgroups among pediatric population of Russian Federation is presented. The obtained data is crucial for evaluation of population's need for specialized medical care for this complex group of patients at both regional and federal levels.
Background. Non-celiac gluten sensitivity (NCGS) is a syndrome of intestinal and extraintestinal symptoms associated with wheat consumption in individuals without celiac disease or wheat allergy. This form of gluten intolerance is not well known and is rarely diagnosed in patients due to nonspecific symptoms, lack of biological marker, and diagnostic algorithm complexity. Altogether, it leads to inefficiency of standard therapy for digestive system, nervous system, and other organs diseases. Case description. The girl had been experiencing recurrent toxic-allergic keratoconjunctivitis with progressive vision loss, as well as weakness, headaches, brain fog, irritability, anxiety, depression, mood swings, sleep disturbances, arthralgia, and myalgia from the age of 4.5. Less pronounced were flatulence, constipation, impaired hands and feet sensitivity, skin rash, lack of coordination, decreased physical development. Gluten intolerance was suspected at the age of 7.5, whereas celiac disease and gluten allergy were excluded. Gluten-free diet (GFD) test led to fast symptom relief up to 80–100%, parents categorically refused to perform gluten challenge. Psycho-neurological and gastrointestinal symptoms did not relapse and there were no signs of keratoconjunctivitis on further strict GFD for 3.5 years. Conclusion. NCGS in children manifests with variety of intestinal and extraintestinal symptoms. Recurrent keratoconjunctivitis can be possible manifestation of NCGS. NCGS diagnosis requires celiac disease and gluten allergy exclusion, as well as conducting diagnostic tests with GFD and gluten challenge. Significant relief in symptoms on GFD and worsening upon challenge confirm the presence of NCGS. Performing gluten challenge may not be recommended in cases of recurrent keratoconjunctivitis associated with NCGS. These children require continuation of GFD for longer period of time.
