Techniques in Pediatric Surgery: Congenital Hyperinsulinism

For surgery in congenital hyperinsulinism (CHI), a distinct surgical strategy and technique is required for focal, diffuse and atypical CHI. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results of surgical therapy are unpredictable and cure is an exception. Therefore, a strong tendency exists nowadays that medical therapy should be preferred in diffuse CHI. In atypical CHI the situation is more complex: if the focal lesion or the segmental mosaic are not too extensive, cure by resection should be possible. But care must be taken in atypical cases not to resect too much of the gland in order not to induce diabetes

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) causes hypoglycemia due to irregular insulin secretion. In infants, a rapid diagnosis and appropriate management to avoid severe hypoglycemia is mandatory. CHI is a heterogeneous condition at the clinical and genetic level, and disease-causing genes have been identified in about half of the patients. The majority of mutations have been identified in the ABCC8 and KCNJ11 genes encoding subunits of the KATP channel responsible for two distinct histological forms. The diffuse form is caused by autosomal recessive or dominant inherited mutations, whereas the focal form is caused by a paternally transmitted recessive mutation and a second somatic event. We report on an unselected cohort of 136 unrelated patients from the German CHI registry. Mutations in either the ABCC8 or KCNJ11 gene were identified in 61 of these patients (45%). In total, 64 different mutations including 38 novel ones were detected in this cohort. We observed biparental (recessive) inheritance in 34% of mutation-positive patients, dominant inheritance in 11% and paternal transmission of a mutation associated with a focal CHI type in 38%. In addition, we observed inheritance patterns that do not exactly follow the classical recessive or dominant mode, further adding to the genetic complexity of this disease

Pasireotide treatment for severe congenital hyper-insulinism due to a homozygous ABCC8 mutation

ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI

A rare case of an isolated triquetrum body fracture in a 14-year-old boy

Isolated carpal fractures are uncommon injuries usually caused by a fall on the outstretched hand. The patient might present with non-specific clinical signs and X-ray diagnosis might be difficult due to bone overlay. An isolated triquetrum body fracture is an absolute rarity. The treatment is easy and the outcome excellent but if missed, degenerative changes with chronic pain and impaired movement might be the consequence

Gastric teratoma in a 6-month-old boy

Gastric teratomas are very rare embryonal neoplasms, accounting for 2.6% of all perinatal diagnosed germ cell tumours. About 85% are well-differentiated mature lesions and about 15% are immature tumours with the potential of malignant transformation. The recommended therapy for gastric teratomas is surgical excision. We present the case of a 6-month-old boy with an incidentally detected epigastric mass. The histological examination revealed a mature gastric teratoma. The diagnostic imaging, therapy and postoperative follow-up are discussed

Decision-Making in the Pediatric Emergency Department—A Survey of Guidance Strategies among Residents

(1) Introduction: Working in an emergency department requires fast and straightforward decisions. Therefore, decision guidance represents an essential tool for successful patient-centered care. Beyond the residents’ own knowledge and experience, printed books have been the primary source of information in the past. The aim of this study was to discover which strategies current residents use the most and to identify alternative quick reference strategies in the digital age. (2) Materials and Methods: This study analyzed the responses of a short questionnaire directed at 41 residents in a single pediatric emergency department (32 pediatric and 9 pediatric surgery residents) over a period of one month. (3) Results: Thirty-three (80.5%) residents answered the entire questionnaire. Strikingly, responses indicated that printed books are still pivotal in guiding decision-making. In addition, the acquisition of information via computers or smartphones plays an increasing role. However, the opinion and council of the attending physician is still of great value to the residents and is not to be underestimated. Overall, most of the residents would prefer to have access to a specially designed smartphone application. (4) Conclusions: Certainty and validity are essential in decision-making in a pediatric emergency department. Although printed books and attending physicians are still considered as reliable sources of information, internet-based information plays an increasing role. In order to provide the best up-to-date and most recent information, a validated and consistently updated smartphone application could be a useful option

Mucoepidermoid carcinoma of the lung in a 6-year-old boy

Primary malignant lung tumours, especially the mucoepidermoid cancer of the bronchus, are very uncommon in childhood. Obtaining the diagnosis might be difficult due to unspecific initial symptoms but early detection and treatment is crucial for a good long-term survival. Bronchoscopy is considered the "gold standard" for making the diagnosis. The recommended therapy for a mucoepidermoid lung cancer is sleeve lobectomy with favourable overall survival after complete resection. We report the case of a 6-year-old boy with a right-upper-lobe bronchus tumour. The histological examination revealed a low-grade mucoepidermoid carcinoma

Exploring Monological and Dialogical Phases in Naturally Occurring Explanations

Fisher JB, Lohmer V, Kern F, Barthlen W, Gaus S, Rohlfing KJ. Exploring Monological and Dialogical Phases in Naturally Occurring Explanations. KI - Künstliche Intelligenz. 2022.Recent approaches to Explainable AI (XAI) promise to satisfy diverse user expectations by allowing them to steer the interaction in order to elicit content relevant to them. However, little is known about how and to what extent the explainee takes part actively in the process of explaining. To tackle this empirical gap, we exploratively examined naturally occurring everyday explanations in doctor–patient interactions (N = 11). Following the social design of XAI, we view explanations as emerging in interactions: first, we identified the verbal behavior of both the explainer and the explainee in the sequential context, which we could assign to phases that were either monological or dialogical; second, we investigated in particular who was responsible for the initiation of the different phases. Finally, we took a closer look at the global conversational structure of explanations by applying a context-sensitive model of organizational jobs, thus adding a third layer of analysis. Results show that in our small sample of conversational explanations, both monological and dialogical phases varied in their length, timing of occurrence (at the early or later stages of the interaction) and their initiation (by the explainer or the explainee). They alternated several times in the course of the interaction. However, we also found some patterns suggesting that all interactions started with a monological phase initiated by the explainer. Both conversational partners contributed to the core organizational job that constitutes an explanation. We interpret the results as an indication for naturally occurring everyday explanations in doctor–patient interactions to be co-constructed on three levels of linguistic description: (1) by switching back and forth between monological to dialogical phases that (2) can be initiated by both partners and (3) by the mutual accomplishment and thus responsibility for an explanation’s core job that is crucial for the success of the explanation. Because of the explorative nature of our study, these results need to be investigated (a) with a larger sample and (b) in other contexts. However, our results suggest that future designs of artificial explainable systems should design the explanatory dialogue in such a way that it includes monological and dialogical phases that can be initiated not only by the explainer but also by the explainee, as both contribute to the core job of explicating procedural, clausal, or conceptual relations in explanations

Impact of magnetic resonance urography and ultrasonography on diagnosis and management of hydronephrosis and megaureter in paediatric patients

Background: (1) To evaluate the diagnostic value of magnetic resonance urography (MRU) in comparison with ultrasonography (US) to determine the extent of upper urinary tract dilation and (2) to evaluate the impact of MRU on therapy management. Materials and Methods: From January 2005 to December 2010, paediatric patients with hydronephrosis or megaureter who underwent MRU in addition to standard work-up imaging were included. Data were retrospectively collected and analysed in comparison with the data obtained from results by US. Results: Forty-five patients with upper urinary tract dilatation were included into the study. Twenty-six patients (58%) had a hydronephrosis and 19 patients (42%) presented with a megaureter. Diagnosis was established in all patients by multimodulary imaging work-up including micturating cysto-urethrography, MAG3 renography, US and MRU and could be confirmed in all patients who underwent surgery (n = 28). Hydronephrosis was detected in 26 of 26 patients by US (100% sensitivity) and in 25 of 26 patients (96%) by MRU (Not significant (n.s.)). Megaureter was detected in 17 of 19 patients (sensitivity 89%) by US and in 18 of 19 patients (sensitivity 95%) by MRU (n.s.). In all 45 patients, MRU had no impact on surgical or conservative management of hydronephrosis or megaureter. Conclusion: In our experience, MRU was not superior to US in detecting hydronephrosis or megaureter and had no impact on the surgical or conservative management of upper urinary tract dilation

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Wieland I, Schanze I, Felgendreher IM, et al. Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism. Frontiers in Endocrinology. 2022;13: 1015244.BackgroundThe focal form of CHI is caused by an autosomal recessive pathogenic variant affecting the paternal homologue of genes ABCC8 or KCNJ11 and a second somatic event specifically occurring in the affected islet of Langerhans. The approach of this study was to integrate the genetic changes occurring in pancreatic focal lesions of CHI at the genomic and transcriptional level. Research Design and MethodsPatients receiving therapeutic surgery and with proven ABCC8 or KCNJ11 pathogenic variants were selected and analyzed for loss of heterozygosity (LOH), changes in copy number and uniparental disomy (UPD) on the short am of chromosome 11 by molecular microarray analysis and methylation-specific MLPA. Gene expression was analyzed by RT-PCR and Massive Analysis of cDNA Ends (MACE). ResultsBoth genes, ABCC8 and KCNJ11, are located in proximity to the Beckwith-Wiedemann (BWS) imprinting control region on chromosome 11p15. Somatic paternal uniparental isodisomy (UPD) at chromosome 11p was identified as second genetic event in focal lesions resulting in LOH and monoallelic expression of the mutated ABCC8/KCNJ11 alleles. Of five patients with samples available for microarray analysis, the breakpoints of UPD on chromosome 11p were different. Samples of two patients were analyzed further for changes in gene expression. Profound downregulation of growth suppressing genes CDKN1 and H19 was detected in focal lesions whereas growth promoting gene ASCL2 and pancreatic transcription factors of the endocrine cell lineage were upregulated. ConclusionsPaternal UPD on the short arm of chromosome 11 appears to be the major second genetic event specifically within focal lesions of CHI but no common breakpoint for UDP can be delineated. We show for the first time upregulation of growth promoting ASCL2 (achaete-scute homolog 2) suggestive of a driving factor in postnatal focal expansion in addition to downregulation of growth suppressing genes CDKN1C and H19