[Focal congenital hyperinsulinism]. / Focalis congenitalis hyperinsulinismus.

In congenital hyperinsulinemic hypoglycemia - the most common cause of persistent hypoglycemia in infancy - a focal lesion can be identified in 50% of the cases. With appropriate medical care based upon early diagnosis, these patients can be cured by the resection of the lesion rendering unnecessary long time medical care, and avoiding serious brain damage from recurrent hypoglycemic episodes. Genetic testing and 18F-fluoro-dihydroxyphenylalanine PET/CT imaging are essential for determining the best possible treatment. We report 2 cases of focal congenital hyperinsulinism - both male infants: 22 and 2 months of age - treated successfully with enucleation of the pancreas lesion (Semmelweis University, Budapest). Both patients had the pathognomonic mutation of the ABCC8 gene of the ATP-sensitive potassium channel. Radiologic imaging and histology confirmed the diagnosis, and after the operation, pharmacological treatment was terminated in both cases. During the follow-up period (5 and 1.5 years, respectively) they are euglycemic, with no morbidities attributed to the operation. We believe that these two operations for focal hyperinsulinism - diagnosed and localised by the above detailed genetic and specific radiological testing - were the first of their kind in Hungary. Based on the acquired experience, every necessary examination can be achieved in our country to improve patient care, reduce morbidity and medical costs. Orv Hetil. 2023; 164(47): 1877-1884.

Characterization of technical skill progress in a standardized rabbit model for training in laparoscopic duodenal atresia repair.

BACKGROUND: Laboratory skills training is an essential step before conducting minimally invasive surgery in clinical practice. Our main aim was to develop an animal model for training in clinically highly challenging laparoscopic duodenal atresia repair that could be useful in establishing a minimum number of repetitions to indicate safe performance of similar interventions on humans. MATERIALS AND METHODS: A rabbit model of laparoscopic duodenum atresia surgery involving a diamond-shaped duodeno-duodenostomy was designed. This approach was tested in two groups of surgeons: in a beginner group without any previous clinical laparoscopic experience (but having undergone previous standardized dry-lab training, n = 8) and in an advanced group comprising pediatric surgery fellows with previous clinical experience of laparoscopy (n = 7). Each participant performed eight interventions. Surgical time, expert assessment using the Global Operative Assessment of Laparoscopic Skills (GOALS) score, anastomosis quality (leakage) and results from participant feedback questionnaires were analyzed. RESULTS: Participants in both groups successfully completed all eight surgeries. The surgical time gradually improved in both groups, but it was typically shorter in the advanced group than in the beginner group. The leakage rate was significantly lower in the advanced group in the first two interventions, and it reached its optimal level after five operations in both groups. The GOALS and participant feedback scores showed gradual increases, evident even after the fifth surgery. CONCLUSIONS: Our data confirm the feasibility of this advanced pediatric laparoscopic model. Surgical time, anastomosis quality, GOALS score and self-assessment parameters adequately quantify technical improvement among the participants. Anastomosis quality reaches its optimal value after the fifth operation even in novice, but uniformly trained surgeons. A minimum number of wet-lab operations can be determined before surgery can be safely conducted in a clinical setting, where the development of further non-technical skills is also required.

Occurrence of Escherichia coli producing extended spectrum ß-lactamases in food-producing animals.

Multidrug resistance due to the production of extended-spectrum beta-lactamases (ESBLs) is a major problem in human as well as in veterinary medicine. These strains appear in animal and human microbiomes and can be the source of infection both in animal and in human healthcare, in accordance with the One Health theorem. In this study we examined the prevalence of ESBL-producing bacteria in food-producing animals. We collected 100 porcine and 114 poultry samples to examine the prevalence of ESBL producers. Isolates were identified using the MALDI-TOF system and their antibiotic susceptibility was tested using the disk diffusion method. ESBL gene families and phylogroups were detected by polymerase chain reactions. The prevalence of ESBL producers was relatively high in both sample groups: 72 (72.0%) porcine and 39 (34.2%) poultry isolates were ESBL producers. Escherichia coli isolates were chosen for further investigations. The most common ESBL gene was CTX-M-1 (79.3%). Most of the isolates belong to the commensal E. coli phylogroups. The porcine isolates could be divided into three phylogroups, while the distribution of the poultry isolates was more varied. In summary, ESBL-producing bacteria are prevalent in the faecal samples of the examined food-producing animals, with a dominance of the CTX-M-1 group enzymes and commensal E. coli phylogroups.

Foreign body type reaction causing differential diagnostic difficulty after appendectomy / Differenciáldiagnosztikai nehézséget okozó fonálgranuloma appendectomia után.

Összefoglaló. Az appendectomia szövodményei a leggyakrabban a korai posztoperatív idoszakban jelentkeznek. A mutét után évekkel megjeleno szövodmény ritka. Egy 11 éves kislányt vizsgáltunk 2 hete fennálló hasi panaszok miatt. Anamnézisében 8 évvel ezelott hagyományos módon elvégzett appendectomia szerepel. Az Ausztriában készült elso hasi ultrahangvizsgálat eltérést nem talált. Az intézetünkben elvégzett képalkotó vizsgálatok - hasi ultrahang, MR-vizsgálat - ileocoecalisan elhelyezkedo szolid terimét igazoltak, és felvetették a folyamat gyulladásos eredetét. A szerteágazó klinikai tünetek, a laboratóriumi és a képalkotó diagnosztikai eltérések kapcsán differenciáldiagnosztikai szempontból a gyulladásos bélbetegség lehetosége is felmerült, és biztonsággal a tumoros folyamatot sem sikerült kizárni. A rosszabbodó status miatt mutét történt. Ennek során a colon ascendenssel összefüggo, makroszkóposan tumoros megjelenésu elváltozást távolítottak el. A szövettani vizsgálat malignitást nem igazolt, a folyamat idegen test okozta - varróanyag-granuloma - krónikus gyulladásos jellegét erosítette meg. A vizsgálatok kapcsán coeliakia is igazolódott. A hasi mutétek ritka szövodménye a Schloffer-tumor, melyet idegen test típusú - gyakran sebészi varróanyag-maradvány körüli - granulomatosus gyulladásos folyamat jellemez. Az entitás ismerete differenciáldiagnosztikai szempontból fontos. Nehezítette a diagnózist az elso hasi ultrahangvizsgálat negatív eredménye és az egyidejuleg manifesztálódó coeliakia. Orv Hetil. 2021; 162(3): 112-115. Summary. Generally, complications with appendectomy occur during the early postoperative stage and are quite rare years after the operation. In case of late manifestation of complications, the clinical signs are generally unspecific. We report a case of an 11-year-old girl - who underwent an appendectomy 8 years ago - with abdominal pain during the last 2 weeks. The first ultrasound examinations were carried out in Austria with normal results. In our department, the ultrasonography and the MR examinations showed an inhomogeneous abdominal mass which was connected to the abdominal wall and with the suspicion of inflammation. Because of the diversified results of radiology imaging and laboratory test, inflammatory bowel disease and tumor were considered in the differential diagnosis. During the operation, a tumor-like lesion related to the ascending colon was found. The histopathological examination revealed a foreign body type suture granuloma with a central abscess. Malignancy was not found. The clinical investigation proved celiac disease, too. The Schloffer tumor is a rare complication after abdominal surgery. This is a foreign body type inflammatory granuloma mainly around a surgical thread. The knowledge of the entity is important in differential diagnostic aspect. The presence of celiac disease in combination with the negative result of the first ultrasound examination made the exact diagnosis more difficult. Orv Hetil. 2021; 162(3): 112-115.

Re-evaluation of histological findings of nonparasitic splenic cysts.

OBJECTIVE: The pathogenesis of nonparasitic splenic cysts (NPSCs) has not been clarified completely. The aim of this multinational and multicentre retrospective study was to further elucidate the origin of NPSCs. METHODS: From 1980 to 2006, 50 children and adolescents were surgically treated for NPSC at six paediatric surgical centres in four European countries. The initial histology report of 35 NPSCs, 22 epidermoid cysts, 11 pseudocysts or post-traumatic cysts and two mesothelial cysts was available. Additional re-evaluation, including immunohistochemistry, to detect cytokeratin, carcino-embrionic antigen and mesothelioma antibody in the inner surface of the cysts was carried out. Special attention was given to the possibility of preceding trauma to the splenic area and whether it played a role in the genesis of NPSC. RESULTS: The pathological re-evaluation showed 30 epidermoid cysts, four mesothelial cysts and one pseudocyst. Immunohistology revealed eight epidermoid and two mesothelial linings of the cysts in those 11 patients in whom pseudocyst was diagnosed originally. No pseudocyst was documented in those patients who had a history of previous blunt abdominal trauma but was not proved by ultrasound and computed tomography scan. CONCLUSION: In contrast with the prevailing belief, it has been demonstrated that NPSCs are congenital in origin, and there is no clinically proven evidence that trauma does play a role in their genesis.

Initial results with minimally invasive repair of pectus carinatum.

OBJECTIVE: Pectus carinatum is traditionally repaired by using some modification of the open Ravitch procedure, with its possible long-term sequelae, such as poor postoperative compliance of the chest. In this study we assessed our results with a new minimally invasive repair of pectus carinatum that requires neither cartilage incision nor sternotomy. METHODS: From June 2005, we have corrected pectus carinatum using a method analogous to the Nuss procedure for pectus excavatum repair. Thus far, we performed this intervention on 14 patients (mean age, 15 +/- 1.5 years). A steel bar has been inserted at the level of the maximum point of the sternal protrusion through small lateral incisions. The sternum is pushed back without osteotomy or chondrotomy. The bar is removed after 2 years. Patients' characteristics, operation time, hospital stay, and complications have been recorded. RESULTS: In 1 patient with asymmetric deformity, 2 bars were placed. Operative time was 42 +/- 20 minutes (mean +/- standard deviation), and hospital stay was 3 days (median quartiles, 3-4 days) postoperatively. We experienced lateral shift of the bar in 1 patient, which was treated with remodeling and repositioning of the bar. No other complication occurred during the 18-month follow-up period (mean range, 2-38 months). Thirteen of the 14 patients reported excellent or very good results. Patients returned to full activity within 2 months. Five bars have been removed. CONCLUSIONS: Minimally invasive repair of pectus carinatum leaves the integrity of the chest wall untouched. It is safe with a short operative time and hospital stay and provides good results, even in asymmetric cases.

Cushing's syndrome in a child with pancreatic acinar cell carcinoma.

A case of pancreatic acinar cell tumor (ACC) is presented in a 10-year-old boy. The tumor manifested clinically with Cushing's syndrome, high serum adrenocorticotropic hormone (ACTH) and cortisol concentrations. In addition, excessive serum levels of alpha-fetoprotein (AFP) were detected. Surgical resection was not possible due to retroperitoneal invasion. Biopsy of the mass showed a solid, poorly differentiated ACC of the pancreas. Periodic acid Schiff positive cytoplasmic granules, trypsinogen, keratins, alpha-1-antitrypsin, and AFP were identified in the tumor cells. Electron microscopy demonstrated zymogen granules as well as isolated dense core granules. Using immunochemiluminometric assay, a high quantity of ACTH was found in the fresh frozen tumor extract. ACTH, chromogranin A, and corticotropin-releasing factor were identified only in a few cells by immunohistochemistry. Combined radiochemotherapy was temporarily effective in reducing the tumor mass and serum AFP. Serum ACTH and cortisol levels dropped progressively and definitively to normal values after chemotherapy, and the Cushing's syndrome subsided. Two years later, the patient died with metastatic disease. The presented case of ACC is interesting due to high serum AFP values and ectopic ACTH secretion resulting in Cushing's syndrome.

Lower prevalence of IL-4 receptor alpha-chain gene G variant in very-low-birth-weight infants with necrotizing enterocolitis.

BACKGROUND/PURPOSE: Altered production of immunoregulatory cytokines is associated with the development of necrotizing enterocolitis (NEC) in preterm very low-birth-weight (VLBW) infants. According to data obtained in adults, functional genetic polymorphisms influence cytokine production capacity. The aim of this study was to evaluate whether functional polymorphisms of interleukin (IL)-1beta, IL-4 receptor alpha-chain (IL-4ra), IL-6, and IL-10 genes might be associated with the risk of NEC in VLBW infants. METHODS: Dried blood spot samples of 46 VLBW infants with NEC were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. Samples from 90 VLBW infants without NEC were used as controls. RESULTS: Infants with NEC carried the mutant variant of IL-4ra less frequently than controls (0.125 v 0.224; P <.05) even after adjustment for risk factors of NEC. No significant differences were found in the allelic frequencies of IL-1beta, IL-6, and IL-10 genes between NEC and control infants. CONCLUSIONS: Carrier state of IL-4ra mutant allele might be associated with lower risk of NEC in VLBW infants. This genetic variant is associated with enhanced IL-4 effect. IL-4 is a major regulator of Th1-Th2 shift. The authors hypothesize that infants carrying the IL-4ra mutant allele might have Th2 skewness that might defend against the development of NEC.