Publications by authors named "Joachim Woelfle"

Context: Several long-acting growth hormone (LAGH) therapies have recently become available, but guidance on their usage in children with growth hormone (GH) deficiency is limited.

Methods: International experts in pediatric endocrinology were invited to join a consensus group based on their expertise in treating children with daily GH and LAGH. The group comprised 11 experts from 10 countries across the world.

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Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness.

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Background: Hyperbilirubinemia is a common condition in newborns. While mild cases of jaundice are common and typically resolve spontaneously, severe hyperbilirubinemia can lead to serious neurologic complications if left untreated. With the constant adaptation of guidelines, clinical management has significantly improved, and treatment has become routine for pediatricians.

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  • T cells play a crucial role in inflammatory bowel diseases (IBD), and infliximab (IFX) is used to treat IBD by neutralizing TNFα to induce remission.
  • A study assessed the immune profiles of pediatric IBD patients before and during IFX therapy, focusing on T cell characteristics to identify potential predictors for treatment success.
  • Findings indicated that non-responders to IFX showed increased levels of the checkpoint molecule Lag-3 on their T cells, suggesting a more exhausted phenotype compared to responders, which could serve as a biomarker for therapy failure.
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Background: The mammalian target of rapamycin inhibitor (mTORi) therapy after kidney transplantation is solely monitored pharmacokinetically, not necessarily reflecting PI3K-Akt-mTOR pathway blockade efficacy leading to potential under-or overimmunosuppression.

Methods: In this cross-sectional study, phosphoflow cytometry was used to determine the efficacy of mTOR inhibition in peripheral T- and B-lymphocyte subsets by assessing p70S6 kinase (p70S6K) phosphorylation in renal transplant recipients upon treatment with a combination of either mTORi and calcineurin inhibitors (n = 18), or mTORi with mycophenolic acid (n = 9). Nine dialysis patients with end-stage renal disease and 17 healthy age-matched volunteers served as controls.

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Context: Monocarboxylate transporter 8 (MCT8) deficiency is a rare X-chromosomal inherited disease leading to severe cognitive impairment, muscular hypotonia and symptoms of peripheral thyrotoxicosis. Experimental approaches aiming to functionally rescue mutant MCT8 activity by the chemical chaperone phenylbutyrate (PB) demonstrated promising effects in vitro for several MCT8 missense mutations.

Objective: The objective was to evaluate biochemical and clinical effects of PB in doses equivalent to those approved for the treatment of urea cycle disorders in a boy with MCT8 deficiency due to a novel MCT8 missense mutation c.

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While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves' disease (GD) is rare (ranges 0.6-3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS.

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Agranulocytosis is a rare antithyroid drug treatment (ATD) side effect seen in children suffering from Graves' disease (GD). Neutropenia is a recognized adverse event associated with ATD but has also been reported as pre-treatment neutropenia in GD. We performed a retrospective cohort study to analyze the longitudinal clinical and biochemical data of 161 pediatric patients with GD who received either methimazole (MMI) or carbimazole (CBZ) as ATD.

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  • Spinal muscular atrophy (SMA) is a serious genetic disorder linked to infant mortality, and current gene therapies show promise but lack effective methods for monitoring disease progression.
  • A clinical study involving ten pediatric SMA patients and ten healthy controls used three-dimensional optoacoustic imaging to assess muscle tissue signals and their correlation to motor function.
  • Results indicated that muscle tissue in SMA patients exhibited reduced optoacoustic signals correlating with disease severity, while those undergoing gene therapy showed signal improvements similar to healthy controls, suggesting the technique’s potential for real-time monitoring of SMA.
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In children and adolescents, impaired growth due to tyrosine kinase inhibitor therapy remains an insufficiently studied adverse effect. This study examines demographic, pharmacological, and genetic factors associated with impaired longitudinal growth in a uniform pediatric cohort treated with imatinib. We analyzed 94 pediatric patients with chronic myeloid leukemia (CML) diagnosed in the chronic phase and treated with imatinib for >12 months who participated in the Germany-wide CML-PAEDII study between February 2006 and February 2021 (clinicaltrials gov.

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This data analysis aimed to systematically analyze a pediatric patient population with a life-limiting disease who were administered cannabinoids. It was a retrospective single-center analysis of patients under supervision of the specialized outpatient pediatric palliative care (SOPPC) team at the Department of Pediatrics and Adolescent Medicine of the Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU). Thirty-one patients with a primary diagnosis of neuropediatric, oncologic, metabolic, and cardiologic categories were included.

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Peripheral arterial disease (PAD) leads to chronic vascular occlusion and results in end organ damage in critically perfused limbs. There are currently no clinical methods available to determine the muscular damage induced by chronic mal-perfusion. This monocentric prospective cross-sectional study investigated n = 193 adults, healthy to severe PAD, in order to quantify the degree of calf muscle degeneration caused by PAD using a non-invasive hybrid ultrasound and single wavelength optoacoustic imaging (US/SWL-OAI) approach.

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(1) Background: Interleukin-6 (IL-6) levels act as an early infection marker preceding C-reactive protein (CRP) elevation. This study seeks to analyze IL-6 behavior in suspected early-onset sepsis (EOS) cases among term newborns, comparing it to that of CRP and evaluating IL-6's diagnostic utility. We also aim to assess the impact of maternal risk factors on EOS in term newborns, quantifying their influence for informed decision making.

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Recently, the importance of post-COVID-19 in children has been recognized in surveys and retrospective chart analysis. However, objective data in the form of cardiopulmonary exercise test as performed in adults suffering from this condition are still lacking. This study aimed to investigate the cardiopulmonary effects of post-COVID-19 on children and adolescents.

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  • Multispectral optoacoustic tomography (MSOT) is a non-invasive technique for assessing disease activity in patients with inflammatory bowel disease (IBD), including children.
  • In a study with 23 children suspected of having IBD, MSOT was used to measure haemoglobin levels in the terminal ileum and sigmoid colon, revealing increased levels in those with active Crohn's disease (CD) and ulcerative colitis (UC) compared to healthy controls.
  • The results indicated that MSOT haemoglobin measurements correlate significantly with traditional methods of assessing disease activity, suggesting it could be a useful tool for evaluating paediatric IBD.
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  • * Results showed an increase in spike seroprevalence from 37.6% to 85.1% and nucleocapsid seroprevalence from 11.6% to 58.1% over four months in 2022.
  • * Significant variations in seroprevalence were found among different age groups; however, there were no notable differences based on sex or clinical diagnosis, highlighting the potential of routine blood assessments to monitor pediatric immunity.
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Background: An infection with SARS-CoV-2 can trigger a systemic disorder by pathological autoimmune processes. A certain type of this dysregulation is known as Multisystemic inflammatory syndrome in children (MIS-C). However, similar symptoms may occur and have been described as Multisystemic inflammatory syndrome after SARS-CoV-2 Vaccination (MIS-V) following vaccination against SARS-CoV-2.

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Background: 3% of all children are unusually short, and 3% are unusually tall. New approaches have broadened the range of therapeutic options in treating growth disorders.

Methods: This review is based on publications retrieved by a selective review of the literature and on the authors' clinical experience.

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  • The study investigates the trends and factors related to the onset of puberty in children with type 1 diabetes (T1D) using data from a German registry involving over 13,000 kids aged 6 to 18.
  • Results indicate that puberty is starting earlier in both boys and girls with T1D, showing significant shifts from 2000 to 2021, influenced by factors like diabetes duration, body mass index (BMI), and blood sugar levels (HbA1c).
  • The findings underscore the need for better diabetes management strategies and further research into how these factors affect growth and development in T1D-affected children.
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Background: Multisystemic Inflammatory Syndrome in children (MIS-C) is a rare autoimmune disorder occurring after a latency period following acute SARS-CoV-2 infection. The therapeutic regime of MIS-C is adapted to the therapy of the Kawasaki disease, as clinical symptoms are similar. Since the Kawasaki disease can potentially result in severe symptoms, which may even affect long-term health, it is essential to gain further knowledge about MIS-C.

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Background: Clinical studies suggest that female sex plays a protective role in the development and progression of kidney disease. Recent experimental studies indicate that in male rats early nephron loss under ongoing nephrogenesis is accompanied by severe long-term sequelae. In humans, nephron formation occurs mainly in the third trimester, ceasing with 36 weeks of gestation.

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