Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease. The histological variants of pancreatic lesions are analyzed in detail. The principles of correct diagnosis are formulated. A new in Russia method for the preoperative determination of the histological form of the disease, which is carried out at the y, Almazov National Medical Research Centre since 2017, – PET/ CT with 18F-DOPA, explained the biochemical basis of its clinical application and the examination technique. The principles of the selection of drug therapy with possible complications, the need for an adequate assessment of its effectiveness are described. If it is impossible to achieve a stable target euglycemia without the need for intravenous glucose infusion, surgical correction of the disease is indicated. In schematic drawings and intraoperative photographs, approaches to surgical treatment are described, the stages of operations and possible complications are clearly disassembled. The results of surgical interventions at the N.N. V.A. Almazov for 01.2017–02.2021, where 39 children with congenital hyperinsulinism were operated on. According to PET/CT with 18F-DOPA, 15 diffuse and 24 focal forms were diagnosed. After surgery, in 12 (31%) patients, a diffuse lesion of the gland was confirmed, in 23 (59%) – a focal nature of the lesion, in 4 (10%) – an atypical form was diagnosed intraoperatively. Of 39 children, 36 (92%) have complete relief of hyperinsulinism, a significant improvement in psychomotor development, of which 9 (23%) need insulin replacement therapy with minimal dosages, these are 8 children with a diffuse form of the disease and 1 child with an atypical one. Intraand postoperative complications were not observed. Thus, partial pancreatectomy for focal forms, subtotal for atypical and near total for diffuse forms, can cope with hypoglycemia due to congenital hyperinsulinism and prevent damage to the central nervous system of newborns and infants

Lower pole obstructive megaureter of duplex kidney: an exception to the Weigert-Meyer rule

Introduction. Anatomical features of the urinary tract in patients with duplicate kidneys are described using the Weigert-Meyer rule, since the orifice of the upper ureter has an ectopic location (inferomedial) and the orifice of the lower ureter has an orthotopic location (superolateral). However, there are rare cases of violation of this rule, complicated by obstructive megaureter, ectopic ureteral orifice, the presence of ureterocele.Objective. To report the rare clinical case of a lower pole obstructive megaureter as a violation of the Meyer-Weigert rule in the patient with complete ureteral duplication and to describe the use of ureteroureterostomy as an effective and safe method of surgical correction of the presented anomaly.Clinical case. We present a case of the infant (5 months old) with a lower pole obstructive megaureter. This pathology was identified through intravenous urography and voiding cystourethrography. Laparoscopic proximal end-to-side ureteroureteroanastomosis was chosen as a surgical treatment. Postoperative control intravenous urography showed the effectiveness (a reduction in the lower pole collecting system of the duplex kidney was revealed) and the safety of this method of correction.Conclusion.  There are only several clinical cases about exceptions to the Weigert-Meyer rule reported in literature, and most of them are about adult patients. The main surgical method of treatment in such cases is heminephrectomy. To our knowledge, this is the only reported case of using ureteroureterostomy in the patient with a lower pole obstructive megaureter. This technique has shown its effectiveness and safety for restoring the patency of the urinary tract, confirmed during the control postoperative examination

Клинико-морфологическая дифференциальная диагностика форм врожденного гиперинсулинизма до этапа иммуногистохимического исследования залитых препаратов поджелудочной железы у детей

Introduction.Differential diagnosis of various forms of congenital hyperinsulinism (CH) is required at the stage of urgent histological examination, but the difference between the exo- and endocrine parts of the pancreas in frozen sections is visualized very poorly.The objective was to search for differential diagnostic criteria of focal and diffuse forms of CH, suitable for urgent histological examination.Methods and materials. Pancreatic surgery material from 25 children with CH, of which 15 cases of focal form (FCH) and 10 cases of diffuse (DСH), and autopsy material from 10 children without CH (K). Frozen and paraffin sections stained with hematoxylin-eosin and histochemical stains were made from the tissue of the pancreas. The number of endocrinocytes with large nuclei was estimated in 10 fields of view for each case.Results. The average proportion of endocrinocytes with large nuclei was significantly (p <0.01) higher compared to the control both with FCH (in the affected area) and DCH (FCH – (1.82±0.50) %, DCH – (4.68±1.66) %, K – (0.34±0.21) %). We found a tendency to detect a higher absolute number of cells with large nuclei in DCH ((4.95±1.24) DCH and (3.71±1.56) FCH). Staining with azure-eosin, picro Mallory and the PAS reaction gave unstable result, and staining with toluidine blue and May-Grunwald did not allow differentiating exo- and endocrine parts of the pancreas.Conclusion. An increase in the size of the endocrinocyte nuclei was the unsuitable criterion for the differential diagnosis of CH forms, and histochemical stains did not give a stable qualitative result. For urgent biopsy examination, new immunohistochemical methods are needed.Введение. Дифференциальную диагностику между различными формами врожденного гиперинсулинизма (ВГ) требуется проводить на этапе срочного гистологического исследования, но на замороженных срезах различие между экзо- и эндокринной частями поджелудочной железы (ПЖ) визуализируется очень плохо.Цель – поиск дифференциально-диагностических критериев очаговой и диффузной форм ВГ, пригодных для срочного гистологического исследования.Методы и материалы. Операционный материал ПЖ от 25 детей с ВГ, из них 15 случаев очаговой формы (ОВГ) и 10 – диффузной (ДВГ), и аутопсийный материал от 10 детей без ВГ (К). Из ткани ПЖ были изготовлены замороженные и парафиновые срезы, окрашенные гематоксилин-эозином и гистохимическими окрасками. Было оценено число эндокриноцитов с крупными ядрами в 10 полях зрения для каждого случая.Результаты. Средняя доля эндокриноцитов с крупными ядрами была статистически значимо (р<0,01) больше по сравнению с контролем как при ОВГ (в зоне поражения), так и при ДВГ (ОВГ – (1,82±0,50) %, ДВГ – (4,68±1,66) %, К – (0,34±0,21) %). Была выявлена тенденция к обнаружению бóльшего абсолютного числа клеток с крупными ядрами при ОВГ ((4,95±1,24) ОВГ и (3,71±1,56) ДВГ). Окрашивание азур-эозином, пикро Маллори и PAS-реакция давали непостоянный результат, а окраски толуидиновым синим и по Май – Грюнвальду не позволяли дифференцировать экзо- и эндокринные части ПЖ.Заключение. Критерий увеличения в размерах ядер эндокриноцитов непригоден для дифференциальной диагностики форм ВГ, а гистохимические окраски не дают стабильно качественного результата. Для срочного биопсийного исследования необходимы новые скоростные иммуногистохимические методики

Neurodevelopmental outcomes and neurophysiological parameters in children with congenital hyperinsulinism

Introduction. Congenital hyperinsulinism is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to delay of neurodevelopment.Aim. To assess psychomotor development and certain neurophysiological parameters of children treated for congenital hyperin-sulinism.Materials and methods. This prospective and retrospective cohort study included 73 infants with congenital hyperinsulinism admitted to the National Almazov Research Centre from 2017 to 2021. All subjects underwent standard clinical examination including physical and neurological assessment as well as 18F-DOPA PET/CT, genetic testing, electroencephalography. Developmental screening was performed using “Ages and Stages” questionnaire in 33 subjects. Possible risk factors for neurode-velopmental sequelae due to hypoglycemia were analyzed.Results and discussion. Normal neurodevelopment in general was observed in 23 subjects (69%), 10 patients had developmental delay. Focal form of CHI had the greatest modifying effect on positive neurodevelopmental outcome in general. Individual skills such as communication, fine and gross motor, problem solving in children with a focal form of CHI were significantly better than those with a nonfocal forms. Age of manifestation and verification of the disease, the minimum level of glycemia and the maximum level of glucose utilization did not significantly affect the formation of either individual skills (with the exception of gross motor skills) or psychomotor development in general. The indicators of gross motor skills in children with a lower level of glucose utilization turned out to be significantly better. Kaplan-Meier survival analysis showed that the alpha rhythm appearance was significantly earlier in patients with a focal form of CHI and with earlier verification of the diagnosis (<28 days of life).Conclusion. The focal form of the disease has the greatest modifying effect on the positive outcome of the psychomotor development. The age-appropriate gross motor skills were observed more often in the group of children with low glucose disposal rates. The association of the early occurrence of the alpha rhythm with the focal form of congenital hyperinsulinism, as well as with the early verification of the disease, was found

The role of aerobic physical activities and rational nutrition in body weight correction in young and middle age women

The purpose of the study is to study the main parameters of anthropometry and body composition in young and middle-aged women, to assess the impact of rational nutrition and fitness, as well as other factors on the effectiveness of weight loss.Цель исследования – изучить основные параметры антропометрии и состава тела у женщин молодого и среднего возраста, оценить влияние рационального питания и занятий фитнесом, а также других факторов на эффективность снижения массы тела