Background: Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the NF1 gene. Although genotype–phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. Methods: We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1–33 years). The data were collected over 15 years. Results: Among the cohort of 204 patients, 148 subjects fulfilled ≥2 criteria established by the National Health Institute. Genetic testing was performed in 70 patients, with an 82.8% detection rate, of which 13 patients were excluded. Among the remaining 45 pathogenic variants, 17 (37.7%) frameshift, 11 (24.4%) nonsense, 8 (17.8%) splice-site, 4 (8.9%) missense mutations, and 5 (11.11%) copy number variations (CNVs) were detected. Café-au-lait macules were present in all patients (100%). Intracranial malformations were the second most common feature (55.6%), followed by Lisch nodules (35.6%), neurofibromas (33.3%), and skeletal abnormalities (31.1%). Conclusions: In our cohort, patients with splice-site variants (8/45, 17.8%) demonstrated a notably more severe phenotype compared to findings reported in other studies, with a high prevalence of plexiform neurofibromas (37.5%), intracranial findings (62.5%), skeletal abnormalities (50%), Lisch nodules (50%), and even pseudarthrosis (25%). Correlating with the literature, missense variants represented a mild phenotype, while patients with microdeletion syndrome revealed a more severe phenotype.

Urodynamics in Early Diagnosis of Diabetic Bladder Dysfunction in Women: A Systematic Review and Meta-Analysis - Article abstract #937166

Recognizing Early Regulation Disorders in Pediatric Care: The For Healthy Offspring Project - Article abstract #930214

Aims: To establish normal reference values of urine flow acceleration (Q_acc) in healthy children, as there is a lack of nomograms for normative reference values of Q_acc by voided volumes in the pediatric population so far. Q_acc might be an early indicator of autonomic neuropathy in children and adolescents.Methods: Data were retrospectively collected from healthy children who underwent uroflowmetry between 1990 and 1992. Exclusion criteria were voided volume less than 20 ml, and postvoid residual more than 15%. Baseline characteristics and uroflowmetry parameters were collected from girls and boys aged between 6 and 18 years. Voided volume, voiding time, time to maximum flow rate, and maximum and average flow rates of urine were measured, and Q_acc was calculated. Postvoid bladder diameter was measured by ultrasonography and converted to volume.Results: Uroflowmetry parameters of 208 children (≤18 years old, 45.2% girls, mean age 9.68 ± 3.09 years) who performed 404 micturition were analyzed. Median voided volume, voiding time, time to Q_max, Q_ave, Q_max, Q_acc, and postvoid residual volume were 130 [20–460] ml, 10 [3–56] s, 3 [1–14] s, 11.7 [2.5–36.6] ml/s, 20.5 [5–50] ml/s, 6 [0.81–25] ml/s², and 1.83 [0–38.62] ml, respectively. Q_acc nomograms were given in centile forms for girls and boys separately, which show an inversely proportional correlation between voided volumes.Conclusions: These are the first nomograms for normative reference values of Q_acc in the pediatric population (girls and boys separately) by voided volumes in centile forms. These may be useful to interpret abnormal Q_acc values and diagnose lower urinary tract diseases over a wide range of voided volumes.

We describe the strengths and challenges of the child healthcare system in Hungary. The number of children has been steadily decreasing since 1982. The number of live births per thousand population has decreased from 12.1 to 9.3 between 1990 and 2015. In 2015, the infant mortality rate was 4.2 deaths per 1000 live births, the lowest ever recorded in Hungary. In 2012, 96% of infants were ever breastfed, following the guidelines, and 65% were exclusively breastfed. Vaccine coverage is over 99%. Primary care paediatricians provide primary healthcare for children under the age of 18 years. There is a special pediatric and a special preterm new-born transport system. The network of Neonatal Intensive Care Units within Hungary was set up in 1975, with the participation of 10 Neonatal Intensive Care Units. In 2015, there were 206,507 inpatient hospital admissions for children aged 0–18 years to acute hospitals. Acute pediatrics is mainly provided in pediatric departments in general hospitals with inpatient and outpatient care. After finishing medical university, there is a 5-year period of postgraduate pediatric training in certified hospitals and university pediatric departments. Hungary’s healthcare system is on the brink of disaster. Low salaries and poor working conditions force physicians to either go abroad or work at a private institutions. Hungary will face a major shortage of paediatricians within ten years. The average age of paediatricians in Hungary is 59, 46% of whom are age over 60 years. Several efforts are being made to solve this complex problem.