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This article discusses the management of severe fetal anemia through intrauterine transfusion at a tertiary center in Budapest, Hungary. Severe fetal anemia is a condition that is often underdiagnosed and can lead to adverse outcomes if left untreated. The study summarizes the results of intrauterine transfusion procedures performed between November 2023 and March 2024, with a total of 7 interventions conducted. The majority of cases involved red-blood cell isoimmunization, and the intrahepatic approach was the preferred method due to its lower complication rate. The procedure has shown promising results in improving perinatal outcomes and extending the duration of pregnancy, but further studies are needed to assess its long-term effectiveness. [Extracted from the article]

This article discusses the establishment of a Fetal Medicine Task Force at Semmelweis University in Hungary. The task force aims to improve the management of high-risk pregnancies, establish a referral system for patients with fetal abnormalities, and identify candidates for fetal therapy. The article highlights the successful performance of several fetal interventions, such as intrauterine fetal transfusions and relieving cystocentesis. The task force's efforts are seen as a groundbreaking step in the field of Fetal Medicine in Hungary, with the goal of improving perinatal outcomes and reducing mortality and morbidity. [Extracted from the article]

Endometrial cancer is a leading gynecological malignancy, with obesity being a significant risk factor due to increased estrogen production in body fat. Current treatments often involve hysterectomy, which precludes fertility, thus highlighting the need for fertility-preserving options. This study aims to evaluate the combined efficacy of a levonorgestrel intrauterine device (LNG-IUD), metformin, and liraglutide for treating women with endometrial hyperplasia or early stage endometrial cancer while preserving fertility. The study will enroll 264 women aged 18-45 with a BMI > 30 who desire uterine preservation. Participants will be randomized into three groups: LNG-IUD alone, LNG-IUD plus metformin, and LNG-IUD plus metformin and liraglutide. Primary outcomes will include complete pathological remission, while secondary outcomes will assess histological changes, glucose, insulin levels, and weight changes over a 12-month period. This study protocol hypothesizes that LNG-IUD combined with metformin and liraglutide may potentially lead to higher regression rates of endometrial hyperplasia (EH) and early stage endometrial cancer (EC) compared to LNG-IUD alone. Furthermore, the protocol anticipates that these combination therapies will demonstrate good tolerability with minimal adverse effects, suggesting the potential benefit of integrating metabolic interventions with LNG-IUD to enhance treatment efficacy while preserving fertility in women with EH and EC.

Background : Lifestyle factors significantly impact overall health. Our aim was to assess reproductive health awareness among patients who applied for emergency contraceptive pills. Methods : This present retrospective observational study between July 2021 and September 2021 is embedded in the MEEC (Motivation and Epidemiology of Emergency Contraceptive Pill) based on the study cohort of a Hungarian data bank containing follow-up data of 447 women who applied for EC telemedicine consultation. Collected data: age, history of previous pregnancy, lifestyle factors like smoking, alcohol consumption, sexual characteristics: partner consistency and protection during intercourse, cervical cancer screening within the past 2 years, previous HPV screening, and the preference for future contraceptive methods. The investigation also compiled accurate data on intercourse (elapsed time to request a medical consultation). Lifestyle factors were scored. Results : The more health-conscious patients were quicker to report for a post-event pill. Earlier pregnancies and older age were associated with greater reproductive health awareness. Conclusions : Reproductive health awareness is increased by previous pregnancies and older age. More health-conscious women consult a doctor earlier, which can reduce the chance of various health damage. Our study emphasizes the significance of lifestyle factor influence on reproductive health decisions.

Uterine rupture is a rare complication during pregnancy which may even lead to the death of the mother and the fetus. In this report, the management of a herniated amniotic sac associated with uterine dehiscence is presented. A 25-year-old primigravida at 30 weeks with a history of a previous unilateral salpingectomy was transferred to our hospital with the potential diagnosis of a herniated amniotic sac, which was discovered during a routine ultrasound scan. The patient had no prior complaints or any other signs that would have indicated a serious condition during her pregnancy. She underwent an emergency cesarean section and a two-layer closure of the lesion. An adequate suture during laparoscopic salpingectomy provides prevention of uterine rupture during subsequent pregnancies. A medical history with a previous laparoscopic dehiscence should necessitate a more frequent sonographic observation during pregnancy. Orv Hetil. 2023; 164(25): 988-992.

Objectives: Associations between body mass index (BMI)- standard deviation score (SDS)/waist-to-height ratio (WHtR) were studied with (i) serum uric acid (sUA)/gamma-glutamyl-transferase (GGT) and (ii) cardiometabolic risk markers in children with obesity, considering sex, pubertal development, and degree of weight loss/type of patient care., Methods: 102 936 children from the Adiposity-Follow-up registry (APV; 47% boys) were included. Associations were analysed between sUA/GGT and anthropometrics, transaminases, lipids, fasting insulin (FI), homeostasis model assessment of insulin resistance (HOMA-IR), triglycerides to HDL-cholesterol (TG/HDL)-ratio. Follow-up analyses (3-24 months after baseline) considered a BMI-SDS reduction ≥0.2 (n = 11 096) or ≥0.5 (n = 3728). Partialized correlation analyses for sex and BMI-SDS were performed, taking pubertal development into consideration., Results: At baseline, BMI-SDS showed the strongest correlations to sUA (r = 0.35; n = 26 529), HOMA-IR/FI (r = 0.30; n = 5513 /n = 5880), TG/HDL-ratio (r = 0.23; n = 24 501), and WHtR to sUA (r = 0.32; n = 10 805), GGT (r = 0.34; n = 11 862) and Alanine-aminotransferase (ALAT) (r = 0.33; n = 11 821), with stronger correlations in boys (WHtR and GGT: r = 0.36, n = 5793) and prepubertal children (r = 0.36; n = 2216). GGT and sUA (after partializing effects of age, sex, BMI-SDS) showed a correlation to TG/HDL-ratio (r = 0.27; n = 24 501). Following a BMI-SDS reduction ≥0.2 or ≥0.5, GGT was most strongly related to Aspartate-aminotransferase (ASAT)/ ALAT, most evident in prepuberty and with increasing weight loss, and also to TG/HDL-ratio (r = 0.22; n = 1528). Prepubertal children showed strongest correlations between BMI-SDS/WHtR and GGT. ΔBMI-SDS was strongly correlated to ΔsUA (r = 0.30; n = 4160) and ΔGGT (r = 0.28; n = 3562), and ΔWHtR to ΔGGT (r = 0.28; n = 3562) (all p < 0.0001)., Conclusion: Abdominal obesity may trigger hyperuricemia and hepatic involvement already in prepuberty. This may be stronger in infancy than anticipated to date. Even moderate weight loss has favourable effects on cardiometabolic risk profile and glucose homeostasis., (© 2022 The Authors. Pediatric Obesity published by John Wiley & Sons Ltd on behalf of World Obesity Federation.)

Background: Heterozygous familial hypercholesterolemia (FH) represents the most frequent monogenic disorder with an estimated prevalence of 1:250 in the general population. Diagnosis during childhood enables early initiation of preventive measures, reducing the risk of severe consecutive atherosclerotic manifestations. Nevertheless, population-based screening programs for FH are scarce., Methods: In the VRONI study, children aged 5-14 years in Bavaria are invited to participate in an FH screening program during regular pediatric visits. The screening is based on low-density lipoprotein cholesterol measurements from capillary blood. If exceeding 130 mg/dl (3.34 mmol/l), i.e. the expected 95th percentile in this age group, subsequent molecular genetic analysis for FH is performed. Children with FH pathogenic variants enter a registry and are treated by specialized pediatricians. Furthermore, qualified training centers offer FH-focused training courses to affected families. For first-degree relatives, reverse cascade screening is recommended to identify and treat affected family members., Results: Implementation of VRONI required intensive prearrangements for addressing ethical, educational, data safety, legal and organizational aspects, which will be outlined in this article. Recruitment started in early 2021, within the first months, more than 380 pediatricians screened over 5200 children. Approximately 50 000 children are expected to be enrolled in the VRONI study until 2024., Conclusions: VRONI aims to test the feasibility of a population-based screening for FH in children in Bavaria, intending to set the stage for a nationwide FH screening infrastructure. Furthermore, we aim to validate genetic variants of unclear significance, detect novel causative mutations and contribute to polygenic risk indices (DRKS00022140; August 2020)., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Public Health Association.)

Background: Serum neurofilament light chain (sNfL) is an established biomarker of neuro-axonal damage in multiple neurological disorders. Raised sNfL levels have been reported in adults infected with pandemic coronavirus disease 2019 (COVID-19). Levels in children infected with COVID-19 have not as yet been reported., Objective: To evaluate whether sNfL is elevated in children contracting COVID-19., Methods: Between May 22 and July 22, 2020, a network of outpatient pediatricians in Bavaria, Germany, the Coronavirus antibody screening in children from Bavaria study network (CoKiBa), recruited healthy children into a cross-sectional study from two sources: an ongoing prevention program for 1-14 years, and referrals of 1-17 years consulting a pediatrician for possible infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We determined sNfL levels by single molecule array immunoassay and SARS-CoV-2 antibody status by two independent quantitative methods., Results: Of the 2652 included children, 148 (5.6%) were SARS-CoV-2 antibody positive with asymptomatic to moderate COVID-19 infection. Neurological symptoms-headache, dizziness, muscle aches, or loss of smell and taste-were present in 47/148 cases (31.8%). Mean sNfL levels were 5.5 pg/ml (SD 2.9) in the total cohort, 5.1 (SD 2.1) pg/ml in the children with SARS-CoV-2 antibodies, and 5.5 (SD 3.0) pg/ml in those without. Multivariate regression analysis revealed age-but neither antibody status, antibody levels, nor clinical severity-as an independent predictor of sNfL. Follow-up of children with pediatric multisystem inflammatory syndrome (n = 14) showed no association with sNfL., Conclusions: In this population study, children with asymptomatic to moderate COVID-19 showed no neurochemical evidence of neuronal damage., (© 2021. The Author(s).)

Background: Children and youth are affected rather mildly in the acute phase of COVID-19 and thus, SARS-CoV-2 infection infection may easily be overlooked. In the light of current discussions on the vaccinations of children it seems necessary to better identify children who are immune against SARS-CoV-2 due to a previous infection and to better understand COVID-19 related immune reactions in children. Methods: In a cross-sectional design, children aged 1-17 were recruited through primary care pediatricians for the study (a) randomly, if they had an appointment for a regular health check-up or (b) if parents and children volunteered and actively wanted to participate in the study. Symptoms were recorded and two antibody tests were performed in parallel directed against S (in house test) and N (Roche Elecsys) viral proteins. In children with antibody response in either test, neutralization activity was determined. Results: We identified antibodies against SARS-CoV-2 in 162 of 2,832 eligible children (5.7%) between end of May and end of July 2020 in three, in part strongly affected regions of Bavaria in the first wave of the pandemic. Approximately 60% of antibody positive children ( n = 97) showed high levels (>97th percentile) of antibodies against N-protein, and for the S-protein, similar results were found. Sufficient neutralizing activity was detected for only 135 antibody positive children (86%), irrespective of age and sex. Initial COVID-19 symptoms were unspecific in children except for the loss of smell and taste and unrelated to antibody responses or neutralization capacity. Approximately 30% of PCR positive children did not show seroconversion in our small subsample in which PCR tests were performed. Conclusions: Symptoms of SARS-CoV-2 infections are unspecific in children and antibody responses show a dichotomous structure with strong responses in many and no detectable antibodies in PCR positive children and missing neutralization activity in a relevant proportion of the young population., Competing Interests: JN was employed by the company Maganamed Limited. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Laub, Leipold, Toncheva, Peterhoff, Einhauser, Neckermann, Borchers, Santos-Valente, Kheiroddin, Buntrock-Döpke, Laub, Schöberl, Schweiger-Kabesch, Ewald, Horn, Niggel, Ambrosch, Überla, Gerling, Brandstetter, Wagner, Kabesch and Corona Virus Antibodies in Children from Bavaria (CoKiBa) Study Group.)

Background: The Combined Multimarker Screening and Randomized Patient Treatment with Aspirin for Evidence-Based Preeclampsia Prevention trial demonstrated that in women who were at high risk for preterm preeclampsia with delivery at <37 weeks' gestation identified by screening by means of an algorithm that combines maternal factors and biomarkers at 11-13 weeks' gestation, aspirin administration from 11 to 14 until 36 weeks' gestation was associated with a significant reduction in the incidence of preterm preeclampsia (odds ratio 0.38; 95% confidence interval, 0.20 to 0.74; P=0.004)., Objective: We sought to examine whether there are differences in the effect of aspirin on the incidence of preterm preeclampsia in the Aspirin for Evidence-Based Preeclampsia Prevention trial in subgroups defined according to maternal characteristics and medical and obstetrical history., Study Design: This was a secondary analysis of data from the Aspirin for Evidence-Based Preeclampsia Prevention trial. Subgroup analysis was performed to assess evidence of differences in the effect of aspirin on incidence of preterm preeclampsia in subgroups defined by maternal age (<30 and ≥30 years), body mass index (<25 and ≥25 kg/m 2 ), racial origin (Afro-Caribbean, Caucasian and other), method of conception (natural and assisted), cigarette smoking (smoker and non-smoker), family history of preterm preeclampsia (present and absent), obstetrical history (nulliparous, multiparous with previous preterm preeclampsia and multiparous without previous preterm preeclampsia), history of chronic hypertension (present and absent). Interaction tests were performed on the full data set of patients in the intention to treat population and on the data set of patients who took ≥ 90% of the prescribed medication. Results are presented as forest plot with P values for the interaction effects, group sizes, event counts and estimated odds ratios. We examined whether the test of interaction was significant at the 5% level with a Bonferroni adjustment for multiple comparisons., Results: There was no evidence of heterogeneity in the aspirin effect in subgroups defined according to maternal characteristics and obstetrical history. In participants with chronic hypertension preterm preeclampsia occurred in 10.2% (5/49) in the aspirin group and 8.2% (5/61) in the placebo group (adjusted odds ratio, 1.29; 95% confidence interval, 0.33-5.12). The respective values in those without chronic hypertension were 1.1% (8/749) in the aspirin group and 3.9% (30/761) in the placebo group (adjusted odds ratio, 0.27; 95% confidence interval, 0.12-0.60). In all participants with adherence of ≥90% the adjusted odds ratio in the aspirin group was 0.24 (95% confidence interval, 0.09-0.65); in the subgroup with chronic hypertension it was 2.06 (95% confidence interval, 0.40-10.71); and in those without chronic hypertension it was 0.05 (95% confidence interval, 0.01-0.41). For the complete data set the test of interaction was not significant at the 5% level (P = .055), but in those with adherence ≥90%, after adjustment for multiple comparisons, the interaction was significant at the 5% level (P = .0019)., Conclusion: The beneficial effect of aspirin in the prevention of preterm preeclampsia may not apply in pregnancies with chronic hypertension. There was no evidence of heterogeneity in the aspirin effect in subgroups defined according to maternal characteristics and obstetrical history., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Objective: The aim of the study was to analyze the adherence to current guidelines for co-morbidity screening in overweight and obese pediatric patients participating in the Adipositas-Patienten-Verlaufsdokumentation (APV) initiative in three German-speaking countries., Methods: APV database: 181 centers from Germany, Austria and Switzerland, specialized in obesity care, contributed standardized, anonymous data of medical examinations from 65,397 patients performed between 2000 and 2010. Completeness of screening for hypertension, dyslipidemia, and impaired glucose metabolism was analyzed using adjusted means., Results: Mean age of the cohort was 12.5 ± 2.9 years and 46.5% were male. 17.3% were overweight (>90th-97th percentile), 45.1% obese (>97th-99.5th percentile), and 37.7% extremely obese (>99.5th percentile). In 2000, blood pressure was documented for 55.1% of patients, increasing to 88.7% in 2010. The rate of lipid diagnostics also improved from 45.0 to 67.7%, and screening for diabetes rose from 32.7 to 62.3% in the same time period. Blood pressure measurements were performed more often during inpatient care (88.5%) compared to outpatient programs (77.5%). Screening was more complete with increasing age and increasing degree of obesity. In boys screening rate was higher than in girls., Conclusion: During the 11-year period, screening for co-morbidity improved significantly in overweight or obese children and adolescents. However, adherence to guidelines is still insufficient in some institutions. Quality control based on benchmarking may improve obesity care and outcome.

Unlabelled: We report on a preterm infant (33rd gestational week) with a varicella-like congenital rash, which initially appeared to respond to therapy with acyclovir. At the age of 3 weeks, lesions were in different stages of evolution and still resembled a varicella zoster virus (VZV) infection. However, since proof of VZV infection was lacking and new lesions erupted at the age of 4 weeks, a skin biopsy was performed which revealed a diagnosis of Langerhans cells histiocytosis. Therapy with prednisone resulted in prompt healing of the lesions., Discussion: Congenital Langerhans cell histiocytosis is rare and symptoms may vary substantially from case to case. Like in our observation it may be confused with congenital varicella. In case of congenital skin lesions of uncertain etiology a skin biopsy should be performed.

Congenital right heart lesions (including tetralogy of Fallot, pulmonary valve stenosis, pulmonary atresia with intact ventricular septum, Ebstein's anomaly and dysplastic tricuspid valve) account for about 19% of congenital cardiac anomalies. We performed a retrospective study in order to assess the percentage of patients with significant right heart lesions (requiring therapy in the first year of life), which is detected prenatally and referred to a centre for perinatal treatment. From 1/1990 until 12/1997 congenital right heart lesions were diagnosed in 21 fetuses and 190 infants (211 patients. The majority of patients had tetralogy of Fallot (64%), less frequently we found critical pulmonary valve stenosis (9%), pulmonary atresia with intact ventricular septum (9%), tricuspid atresia (14%) and Ebstein's anomaly or dysplastic tricuspid valve (4%). Prenatally the cardiac anomaly was diagnosed in all 21 cases who were referred to our center (10%). The highest referral and detection rate was found among fetuses with Ebstein's anomaly or dysplastic tricuspid valve (5/8 patients = 63%) followed by fetuses with pulmonary atresia and intact ventricular septum (5/20 = 25%), critical pulmonary stenosis (4/18 = 22%) or tricuspid atresia (4/29 = 14%). The prenatal referral rate was disappointing in children with tetralogy of Fallot (3/136 = 2.2%). A higher prenatal detection rate of congenital right heart lesions can be achieved only by an improvement of prenatal screening including the 4-chamber view and the origin of the great arteries. A first step would be the inclusion of the fetal 4-chamber view into the routine examination during the 18th-20th week of pregnancy (stage 1 of a multistage concept of prenatal screening) and by assessment of the outflow tracts and the great arteries in pregnancies associated with risk factors or anomalies of the fetus (stage 2 and 3 of a multistage concept).

We describe a 17 year old patient suffering from Canale-Smith syndrome (CSS) including chronic lymphadenopathy, splenomegaly, hypergammaglobulinemia and recurrent Coombs positive hemolytic crises. The parents are not consanguine, all other family members including two brothers are healthy. Peripheral blood mononuclear cells of the patient showed an increased rate of CD3 positive, CD4/CD8 double negative T-lymphocytes. In vitro assays showed these cells to have an increased rate of spontaneous apoptosis. Though expression of Fas/Apo-1 (CD95) and Fas-ligand (FasL) was detected on RNA- and protein level we found Fas/Apo-1 mediated apoptosis being significantly reduced. Sequencing of the fas/apo-1 gene proved the patient RT and his father to carry a point mutation at position 804 located in exon 9 (death domain) leading to an amino acid substitution. For developing of CSS, a fas/apo-1 mutation seems to be necessary but not sufficient. An additional independent mechanism must be involved in the pathogenesis of human lpr<-phenotype.

Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a 3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuplel, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers. In nine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children with type A. In all but one child, deletion size was approximately 3 Mb. The girl with the smaller deletion of approximately 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 was suspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism. With respect to cause and clinical course, IAA type A and B were shown to represent different entities. This study showed that variable symptoms of 22q11.2 hemizygosity may cluster.

Mesenteric vein thrombosis is a rare but severe complication in children requiring splenectomy. We report on a 5-year-old boy with an autoimmune hemolytic anemia who underwent splenectomy because of severe side effects from cortisone therapy. 10 months after splenectomy he presented with signs of a paralytic ileus. Laparotomy showed mesenteric vein thrombosis with hemorrhagic bowel infarction requiring resection of two thirds of the small intestine. An early recognition and thrombolytic or surgical treatment of mesenteric vein thrombosis may reduce the incidence of hemorrhagic infarction, peritonitis, and secondary complications in these patients.