186 results match your criteria: "Uppsala University Children's Hospital[Affiliation]"

In-depth analysis of transcriptomes in ovarian cortical follicles from children and adults reveals interfollicular heterogeneity.

Nat Commun

August 2024

Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Huddinge, Stockholm, Sweden.

Article Synopsis
  • The ovarian cortical reserve of follicles is really important for having babies, but some medical treatments can harm them, leading to fertility issues.
  • Researchers studied 120 follicles from kids and adults and found two main types of follicles in both age groups, which helps understand their roles better.
  • They discovered that while growth patterns are similar, there are some differences in the cells and genes, and they found new marker genes that could improve how we preserve fertility at different ages.
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Article Synopsis
  • The ChiCaP study investigates the role of childhood cancer predisposition (ChiCaP) syndromes and how integrating germline whole-genome sequencing (gWGS) with tumor sequencing can improve diagnosis and treatment strategies for children with solid tumors.
  • Out of 309 children tested, 11% were diagnosed with ChiCaP syndromes, often missed before, showing significant diagnostic yield especially in certain cancers like retinoblastomas and high-grade astrocytomas.
  • The findings underscore the importance of combining systematic phenotyping and genomic diagnostics, as it enables personalized care and tailored treatment recommendations for a substantial number of affected patients.
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Drivers Underlying Metastasis and Relapse in Medulloblastoma and Targeting Strategies.

Cancers (Basel)

April 2024

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Rudbeck Laboratory, Uppsala University, 75185 Uppsala, Sweden.

Medulloblastomas comprise a molecularly diverse set of malignant pediatric brain tumors in which patients are stratified according to different prognostic risk groups that span from very good to very poor. Metastasis at diagnosis is most often a marker of poor prognosis and the relapse incidence is higher in these children. Medulloblastoma relapse is almost always fatal and recurring cells have, apart from resistance to standard of care, acquired genetic and epigenetic changes that correlate with an increased dormancy state, cell state reprogramming and immune escape.

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Active versus restrictive ligation strategy for patent ductus arteriosus - A retrospective two-center study of extremely preterm infants born between 22 + 0 and 25 + 6 weeks of gestational age.

Early Hum Dev

April 2024

Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Neonatal Intensive Care Unit, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address:

Article Synopsis
  • - The study examines surgical approaches to treating patent ductus arteriosus (PDA) in extremely premature infants (born <26 weeks), focusing on two large Swedish hospitals over six years.
  • - Results showed that one hospital performed PDA surgery more frequently and at an earlier age, yet both centers had similar survival rates for infants, but different outcomes in terms of bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP).
  • - The earlier surgical intervention was linked to lower severe BPD rates but higher severe ROP rates, indicating a complex relationship between treatment timing and clinical outcomes in extremely preterm infants.
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Introduction: The effect of the pandemic restrictions in the NICUs is not well studied. Necrotizing enterocolitis (NEC) is characterized by intestinal inflammation and bacterial invasion. This study aimed to investigate whether the incidence of NEC has changed during the COVID-19 pandemic in Sweden and whether it was associated with a change in the frequency of extremely preterm births.

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Background: Identifying factors predictive of hospital admission can be useful to prospectively inform bed management and patient flow strategies and decrease emergency department (ED) crowding. It is largely unknown if admission rate or factors predictive of admission vary based on the population to which the ED served (i.e.

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Background: Children with complicated gastrointestinal conditions are dependent on follow up by tertiary care specialists throughout childhood to prevent and treat complications. In Sweden, paediatric surgical- and intestinal rehabilitation centres are centralised which means that many patients and guardians have to travel long distances to access tertiary referral centres. Our tertiary referral centre has developed a model of shared care with video conferences for follow up with our centre and the patient and guardians attending together with the responsible professionals at the local hospital.

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Background: GLP-1 receptor agonists (GLP-1RA) are increasingly used to treat adolescent obesity. However, the effect on endogenous GLP-1 secretory patterns following treatment in adolescents is unknown. The GLP-1RA exenatide was shown to significantly lower BMI and 2-hour glucose in adolescents with obesity, in the placebo-controlled, randomized controlled trial Combat-JUDO.

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Predictors of treatment response in therapy-resistant enuresis.

J Pediatr Urol

April 2024

Uppsala University Children's Hospital and Department of Women's and Children's Health, Uppsala University, Sweden.

Background: The voiding chart is part of the initial evaluation of enuresis, since the data gathered this way are assumed to carry predictive information. However, there is little evidence that the voiding chart actually does predict therapy response. Lundmark & Nevéus performed a pilot investigation in 2020 and found that anamnestic and voiding chart data did not predict response to second-line therapies.

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Aim: To investigate the prevalence and possible risk factors for the development of impaired glucose metabolism in children and adolescents with obesity.

Methods: This was a cross-sectional retrospective cohort study, including 634 patients with obesity and 98 normal weight controls aged 4-18 years from the Beta-cell function in Juvenile Diabetes and Obesity (Beta-JUDO) cohort, a dual-centre study at Uppsala University Hospital (Sweden) and Paracelsus Medical University Hospital (Salzburg, Austria) conducted between 2012 and 2021. A longitudinal subgroup analysis, including 188 of these subjects was performed.

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Aims: In a cohort of 45 children and adolescents diagnosed with idiopathic intracranial hypertension (IIH), our main aims were to investigate patient delay, lead time to final diagnosis, and adherence to current diagnostic guidelines.

Methods: This population-based, retrospective, single-center cohort study was performed at Uppsala University Children's Hospital, Sweden, a tertiary referral center for children and adolescents with rare and/or complicated neurologic disease. Patient data were retrieved from the local registries for patients filling the following criteria: age (0-17.

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Reference standards for follicular density in ovarian cortex from birth to sexual maturity.

Reprod Biomed Online

October 2023

NORDFERTIL Research Lab Stockholm, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; Children's Hospital, Paediatric Research Centre, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Research Question: Are age-normalized reference values for human ovarian cortical follicular density adequate for tissue quality control in fertility preservation?

Design: Published quantitative data on the number of follicles in samples without known ovarian pathology were converted into cortical densities to create reference values. Next, a sample cohort of 126 girls (age 1-24 years, mean ± SD 11 ± 6) with cancer, severe haematological disease or Turner syndrome were used to calculate Z-scores for cortical follicular density based on the reference values.

Results: No difference was observed between Z-scores in samples from untreated patients (0.

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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.

JCO Precis Oncol

June 2023

Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.

Article Synopsis
  • The study examined how whole-genome sequencing (WGS) and RNA sequencing can help in diagnosing and treating childhood cancers, focusing on children with primary or relapsed solid tumors in Sweden.
  • Over the first 14 months, 118 tumors were analyzed, and 95% of those with mutations had clear clinical relevance, with significant findings such as additional subclassifications and potential treatment targets in 26% of the cases.
  • Overall, the research highlights the importance of integrating genomic data into clinical decision-making for improved diagnosis and treatment options in pediatric solid tumors.
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Background: Orofacial granulomatosis (OFG) is an inflammatory disorder of the perioral region and oral cavity. Crohn's disease (CD) in conjunction with OFG (CD-OFG), has been suggested to constitute a phenotype of CD with distinct features at diagnosis.

Aims: The aim of this project was to investigate whether the distinct phenotypic features of CD-OFG persist in the years following the initial diagnosis of CD.

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Purpose: Cerebellar mutism syndrome (CMS) is a severe neurological complication of posterior fossa tumour surgery in children, and postoperative speech impairment (POSI) is the main component. Left-handedness was previously suggested as a strong risk factor for POSI. The aim of this study was to investigate the relationship between handedness and the risk of POSI.

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Background: The numbers of pediatric brain tumor survivors are increasing due to improved treatment protocols and multimodal treatments. Many survivors have neurocognitive sequelae, especially after radiotherapy. Neuropsychologic assessment is therefore essential to interpret clinical outcome, evaluate treatments protocol, and implement rehabilitation interventions.

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Purpose: Esophageal atresia (EA) is a congenital anomaly of the foregut. Although the survival has improved over the years there is a significant gastrointestinal morbidity affecting physical function and health-related quality of life. The aims of the study were to identify and evaluate predictors of histopathological esophagitis in infants and adolescents with EA.

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Unlabelled: Gastroschisis is one of the most common congenital malformations in paediatric surgery. However, there is no consensus regarding the optimal management. The aims of this study were to investigate the management and outcome and to identify predictors of outcome in gastroschisis.

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The optimal fluid requirements for extremely preterm infants are not fully known. We examined retrospectively the fluid intakes during the first week of life in two cohorts of extremely preterm infants born at 22-26 weeks of gestation before ( = 63) and after a change from a restrictive to a more liberal ( = 112) fluid volume allowance to improve nutrient provision. The cohorts were similar in gestational age and birth weight, but antenatal steroid exposure was more frequent in the second era.

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Background: Pilocytic astrocytoma is the most common brain tumour type in childhood located in the posterior fossa, and treated mainly with surgery. These tumours have low mortality, but knowledge concerning its long-term outcome is sparse.

Aims: The aim was to investigate if patients treated for pilocytic astrocytoma in the posterior fossa had motor complications, including balance, motor and process skills.

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Childhood obesity-related metabolic derangements are increasing among South Asian populations. Most of these changes persist to adulthood. This study aims to describe the distribution of metabolic abnormalities among 7- to 17-year-old overweight and obese children in the Gampaha District of Sri Lanka.

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Reliable data on causes of death (COD) in preterm infants are needed to assess perinatal care and current clinical guidelines. In this retrospective observational analysis of all deceased preterm infants born < 37 weeks' gestational age (n = 278) at a Swedish tertiary neonatal intensive care unit, we compared preliminary COD from Medical Death Certificates with autopsy defined COD (2002-2018), and assessed changes in COD between two periods (period 1:2002-2009 vs. period 2:2011-2018; 2010 excluded due to centralized care and seasonal variation in COD).

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