Short-Term Impact of Newly Imposed Legal Restriction on DSD Surgery in Children in Germany.

Background/objectives: In recent years, changing paradigms, both culturally and scientifically, have fundamentally altered the approach to the treatment of children with Disorders of Sexual Development (DSD) prior to reaching the age of legal consent. In Germany, the situation changed with the introduction of legislation that includes a partial ban on DSD surgery in children in 2021. This study aims to analyze the impact of this legislation on clinical practice.

Early postnatal high-dose fat-soluble enteral vitamin A supplementation for moderate or severe bronchopulmonary dysplasia or death in extremely low birthweight infants (NeoVitaA): a multicentre, randomised, parallel-group, double-blind, placebo-controlled, investigator-initiated phase 3 trial.

Background: Vitamin A plays a key role in lung development, but there is no consensus regarding the optimal vitamin A dose and administration route in extremely low birthweight (ELBW) infants. We aimed to assess whether early postnatal additional high-dose fat-soluble enteral vitamin A supplementation versus placebo would lower the rate of moderate or severe bronchopulmonary dysplasia or death in ELBW infants receiving recommended basic enteral vitamin A supplementation.

Methods: This prospective, multicentre, randomised, parallel-group, double-blind, placebo-controlled, investigator-initiated phase 3 trial conducted at 29 neonatal intensive care units in Austria and Germany assessed early high-dose enteral vitamin A supplementation (5000 international units [IU]/kg per day) or placebo (peanut oil) for 28 days in ELBW infants.

Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this study was to evaluate neurology appointment wait times for newborn screening identified infants, pediatric cases mirroring SMA symptomatology, and cases in which SMA is suspected by the referring physician.

Does Accidental Hypothermia Increase Morbidity and Mortality in Mature Neonates?

Accidental hypothermia in mature neonates requiring hospitalization is a clinical complication that has not been studied in detail. In the present study, the effect of accidental hypothermia on common morbidity in neonates in the postnatal period was investigated. We did temperature measurements in 616 mature neonates after birth, after transfer to the maternity ward and at check-up at age of 48-72 hours of life.

Transport of double-stranded ribonucleic acids (dsRNA) and deoxyribonucleic acids (DNA) in sand and iron oxide-coated sand columns under varying solution chemistries.

Assessing ecological risks associated with the use of genetically modified RNA interference crops demands an understanding of the fate of crop-released insecticidal double-stranded RNA (dsRNA) molecules in soils. We studied the adsorption of one dsRNA and two double-stranded DNA as model nucleic acids (NAs) during transport through sand- and iron oxide-coated sand (IOCS)-filled columns over a range of solution pH and ionic compositions. Consistent with NA-sand electrostatic repulsion, we observed only slight retention of NAs in sand columns.

[Pediatric infectious emergencies-from febrile seizure to purpura fulminans].

Febrile seizures, which are relatively common in young children, are often triggered by an infection and resolve quickly. Prompt presentation to a pediatric department is mandatory after any first seizure and every time for children ≤ 12 months. Central nervous system (CNS) diseases in childhood are able to cause seizures or other neurological disorders.

Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights.

Objective: As part of efforts to reduce diagnostic delays and enhance clinical trials, Cure SMA evaluated the effects of COVID-19 on SMA care and clinical trial conduct.

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive, potentially debilitating muscle weakness and atrophy. Uninterrupted access to early diagnosis, disease-modifying treatment, and care for SMA is vital to avoiding irreversible motor neuron death and achieving optimal patient outcomes.

[Breathing disorders in children].

Breathing disorders in children are one of the most common challenges for both parents and physicians. The first step should always consist of the initial clinical assessment concerning the potentially critically ill patient. Using the pediatric assessment triangle (PAT), the rapid evaluation of airway and breathing is crucial.

Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy.

Unlabelled: The purpose of the present study was to define the prevalence of hip pain in nonambulatory children with spinal muscular atrophy (SMA) (type I or II) treated with aggressive medical management, prior to widespread use of disease-modifying therapies (DMTs).

Methods: A retrospective chart review (1993 to 2017) was performed on children diagnosed with SMA to identify subjective reports of hip pain and associated interventions, while radiographs were evaluated to assess hip instability and spinal deformity.

Results: Seventy-two patients (33 with type I and 39 with type II) met the inclusion criteria.

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.

Objective: In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.

Methods: A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA.

Umbilical venous catheter- and peripherally inserted central catheter-associated complications in preterm infants with birth weight < 1250 g : Results from a survey in Austria and Germany.

Background And Objective: Umbilical venous catheters (UVC) and peripherally inserted central catheters (PICC) are commonly used in preterm infants but have been associated with a number of serious complications. We performed a survey in Austria and Germany to assess the use of UVCs and PICCs in preterm infants with a birth weight < 1250 g and associated rates of catheter-related adverse events.

Methods: Electronic survey of participating centers of the NeoVitaA trial.

Pharmacokinetic/Pharmacodynamic Modelling of Allopurinol, its Active Metabolite Oxypurinol, and Biomarkers Hypoxanthine, Xanthine and Uric Acid in Hypoxic-Ischemic Encephalopathy Neonates.

Background: Allopurinol, an xanthine oxidase (XO) inhibitor, is a promising intervention that may provide neuroprotection for neonates with hypoxic-ischemic encephalopathy (HIE). Currently, a double-blind, placebo-controlled study (ALBINO, NCT03162653) is investigating the neuroprotective effect of allopurinol in HIE neonates.

Objective: The aim of the current study was to establish the pharmacokinetics (PK) of allopurinol and oxypurinol, and the pharmacodynamics (PD) of both compounds on hypoxanthine, xanthine, and uric acid in HIE neonates.

Sagittal Plane Deformities in Children with SMA2 following Posterior Spinal Instrumentation.

This is a retrospective radiographic review to assess post-operative sagittal plane deformities in patients with Spinal Muscular Atrophy type 2 that had been treated with posterior spinal instrumentation. Thirty-two patients with a history of either spinal fusion (N = 20) or growing rods (N = 12) were identified with an average of 7.6 (2.

Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).

Background: Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. There is a need to improve SMA awareness, screening, and referral patterns.

Glomerular Filtration Rate in Asphyxiated Neonates Under Therapeutic Whole-Body Hypothermia, Quantified by Mannitol Clearance.

Background: Therapeutic hypothermia (TH) is an established intervention to improve the outcome of neonates with moderate-to-severe hypoxic-ischemic encephalopathy resulting from perinatal asphyxia. Despite this beneficial effect, TH may further affect drug elimination pathways such as the glomerular filtration rate.

Objectives: The objective of this study was to quantify the effect of TH in addition to asphyxia on mannitol clearance as a surrogate for the glomerular filtration rate.

Peri-operative management of children with spinal muscular atrophy.

Background And Aims: Current multi-disciplinary management of children with spinal muscular atrophy (SMA) often requires the surgical management of spinal deformities. We present the outcomes of our peri-operative experience around the time of their spinal surgery and share our neuromuscular perioperative protocol.

Methods: A single-centre retrospective chart review was performed to evaluate all children with SMA types I and II that underwent thoracolumbar spinal deformity correction (posterior spinal fusion or growing rod insertion) from 1990 to 2015.

The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy.

Background: Cure SMA maintains the largest patient-reported database for people affected with spinal muscular atrophy (SMA). In 2017, Cure SMA initiated annual surveys with their membership to collect demographic and disease characteristics, healthcare, and burden of disease information from patients and caregivers.

Objective: To summarize results from two large-scale Cure SMA surveys in 2017 and 2018.

Acute urinary retention in children.

Background: Acute urinary retention is a common emergency in adult patients, foremost in older men. In childhood urinary retention is a rare entity with only sparse literature on the etiology.

Objective: To assess the etiology and treatment of acute urinary retention in the pediatric population and assess age and sex distribution.

[Is the Quality Guideline of Care Delivery of Preterm and Mature Infants (QFR-RL) of the Federal Joint Committee (G-BA) a Quality Risk? - An Analysis of the Fulfillment Rate and the Consequences for Care Delivery to Other IC Patients and Imminent Premature Infants at a Regional Network of Perinatal Centers].

Background: The quality guideline for care delivery to preterm and mature infants (QFR-RL) places high demands on perinatal centers. In this analysis, the degree of fulfillment was determined. Additionally, care delivery to further patient groups and sufficient nursing staff capacity for care delivery to imminent preterm infants (FG) were evaluated.

Small direct right ventricular cardiac metastasis of osteosarcoma in a 10-year-old boy affirmed by cardiac MRI.

Background: Metastatic osteosarcoma with direct cardiac involvement is an exceptionally rare finding. Reliable detection of cardiac metastases is known to be crucial for patients therapy and prognosis.

Case Summary: In a 10-year-old boy affected by osteosarcoma of the left femur, a baseline Fluorine-18-fluorodeoxy-glucose positron emission tomography/computed tomography (F-FDG PET/CT) was performed to assess the full extent of disease.

Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?

Study Design: Single center, retrospective chart review.

Objectives: To determine if routine posterior spinal fusion (PSF) is unnecessary in non-ambulatory growing rod graduates with SMA. Most non-ambulatory children with SMA develop early-onset scoliosis (EOS).