7,514 results match your criteria "gemma fernández-garcía"

Measured energy expenditure in mildly hypothermic critically ill patients with traumatic brain injury: A sub-study of a randomized controlled trial.

Clin Nutr 2021 May 24;40(6):3875-3882. Epub 2021 May 24.

Australian and New Zealand Intensive Care Research Centre, School of Public Health and Preventative Medicine, Monash University, St Kilda Road, Melbourne, 3004, Australia; Intensive Care Unit, The Alfred Hospital, Commercial Road, Melbourne, 3004, Australia.

Background & Aims: Prophylactic hypothermia, often used in critically ill patients with traumatic brain injury, reduces energy expenditure and may affect energy delivered by nutrition therapy. The primary objective of this study was to measure energy expenditure in hypothermic patients over the first 3 days after traumatic brain injury (TBI). Secondary objectives included comparison of measured energy expenditure and nutrition delivery to day 7. Read More

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Reliable detection of subtypes of nailfold capillary haemorrhages in childhood-onset systemic lupus erythematosus.

Clin Exp Rheumatol 2021 Jun 8. Epub 2021 Jun 8.

Department of Internal Medicine, Ghent University, and Department of Rheumatology, Ghent University Hospital, Ghent, Belgium.

Objectives: In systemic lupus erythematosus (SLE), it is necessary to obtain biomarkers that predict cardiovascular complications due to premature atherosclerosis, which is related to endothelial dysfunction. Nailfold capillary abnormalities might be a biomarker for endothelial dysfunction. In adults and children with SLE, nailfold capillary haemorrhages have shown to be significantly correlated with disease activity. Read More

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ADRB2 Haplotypes and Asthma Exacerbations in Children and Young Adults: An Individual Participant Data Meta-Analysis.

Clin Exp Allergy 2021 Jun 15. Epub 2021 Jun 15.

Department of Medical Informatics, Erasmus University Medical Center, Rotterdam, the Netherlands.

Background: The polymorphism Arg16 in β -adrenergic receptor (ADRB2) gene has been associated with an increased risk of exacerbations in asthmatic children treated with long-acting β -agonists (LABA). However, it remains unclear whether this increased risk is mainly attributed to this single variant or the combined effect of the haplotypes of polymorphisms at codons 16 and 27.

Objective: We assessed whether the haplotype analysis could explain the association between the polymorphisms at codons 16 (Arg16Gly) and 27 (Gln27Glu) in ADRB2 and risk of asthma exacerbations in patients treated with inhaled corticosteroids (ICS) plus LABA. Read More

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European guideline on indications, performance and clinical impact of C-breath tests in adult and pediatric patients: An EAGEN, ESNM, and ESPGHAN consensus, supported by EPC.

United European Gastroenterol J 2021 Jun 14. Epub 2021 Jun 14.

Division of Gastroenterology and Hepatology, University Hospital Zürich, Zürich, Switzerland.

Introduction: C-breath tests are valuable, noninvasive diagnostic tests that can be widely applied for the assessment of gastroenterological symptoms and diseases. Currently, the potential of these tests is compromised by a lack of standardization regarding performance and interpretation among expert centers.

Methods: This consensus-based clinical practice guideline defines the clinical indications, performance, and interpretation of C-breath tests in adult and pediatric patients. Read More

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A Newborn Falsely Suspected of Congenital Hypothyroidism due to Mutated Thyroxine-Binding Globulin with Low Binding Affinity.

Horm Res Paediatr 2021 Jun 14:1-5. Epub 2021 Jun 14.

Department of Pediatric Endocrinology, Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

Introduction: Neonatal screening programs for congenital hypothyroidism (CH) have been implemented worldwide to facilitate early diagnosis and treatment. The Dutch neonatal CH screening is primarily based on the measurement of thyroxine (T4). When T4 is low, an additional thyroxine-binding globulin (TBG) measurement is performed to reduce the number of false-positive screening results due to harmless TBG deficiency. Read More

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Health-related quality of life in Dutch adult survivors of childhood cancer: A nation-wide cohort study.

Eur J Cancer 2021 Jun 10;152:204-214. Epub 2021 Jun 10.

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

Aim: To investigate the health-related quality of life (HRQOL) of Dutch adult childhood cancer survivors (CCS) and to identify risk factors of impaired HRQOL.

Methods: Adult CCS (age >18, diagnosed <18, ≥5 years since diagnosis) from the Dutch LATER registry completed the Medical Outcome Study Short Form 36 (SF-36) to measure HRQOL and provided sociodemographic characteristics. Age-adjusted mean SF-36 scale scores of CCS were compared to the Dutch general population for men and women separately using t-tests, with effect size d. Read More

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Health- and treatment outcomes of patients with hemophilia in the Netherlands, 1972-2019.

J Thromb Haemost 2021 Jun 12. Epub 2021 Jun 12.

Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.

Introduction: We conducted six cross-sectional nationwide questionnaire studies among all patients with hemophilia in the Netherlands from 1972 until 2019 to assess how health outcomes have changed, with a special focus on patients >50 years of age.

Methods: Data were collected on patient characteristics, treatment, (joint) bleeding, joint impairment, hospitalizations, human immunodeficiency virus and hepatitis C infections, and general health status (RAND-36).

Results: In 2019, 1009 patients participated of whom 48% had mild, 15% moderate and 37% severe hemophilia. Read More

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Gastrointestinal Perspective of COVID-19 in Children - an Updated Review.

J Pediatr Gastroenterol Nutr 2021 Jun 10. Epub 2021 Jun 10.

Department of Paediatrics, Assuta Ashdod University Hospital, Ashdod, Israel Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Department of Paediatrics, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands Division of Neurogastroenterology & Motility, Department of Paediatric Gastroenterology, Great Ormond Street Hospital, London, UK Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany Hospital Sant Joan de Déu, Barcelona, Spain Department of Paediatrics, Woman's & Child's University Hospital of Verona, Italy Department of pediatrics, University Medical Center Maribor, Ljubljanska 5, 2000 Maribor, Slovenia Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, and IRSD, Université de Toulouse, INSERM, INRAE, ENVT, UPS, Toulouse, France Department of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples, Italy Centre for Paediatric Gastroenterology, Sheffield Children's Hospital NHS Foundation Trust, Weston Bank, Sheffield, S10 TH, UK Paediatric Gastroenterology Department, Al Jalila Children's Specialty Hospital, Dubai, UAE.

Abstract: Gastrointestinal symptoms are common findings in children with SARS-CoV-2 infection, including vomiting, diarrhoea, abdominal pain, and difficulty in feeding, although these symptoms tend to be mild. The hepato-biliary system and the pancreas may also be involved, usually with a mild elevation of transaminases and, rarely, pancreatitis. In contrast, a late hyper-inflammatory phenomenon, termed multisystem inflammatory syndrome (MIS-C), is characterized by more frequent gastrointestinal manifestations with greater severity, sometimes presenting as peritonitis. Read More

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Diagnostic accuracy of the response to the brief tachycardia provoked by standing in children suspected for long QT syndrome.

Heart Rhythm O2 2021 Apr 13;2(2):149-159. Epub 2021 Mar 13.

Department of Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center, Amsterdam, The Netherlands.

Background: Adult long QT syndrome (LQTS) patients have inadequate corrected QT interval (QTc) shortening and an abnormal T-wave response to the sudden heart rate acceleration provoked by standing. In adults, this knowledge can be used to aid an LQTS diagnosis and, possibly, for risk stratification. However, data on the diagnostic value of the standing test in children are currently limited. Read More

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Maternal and Neonatal Factors Affecting Bone Mineral Content of Indonesian Term Newborns.

Front Pediatr 2021 25;9:680869. Epub 2021 May 25.

Department of Neonatology, Amsterdam University Medical Center Location VU University Medical Center, Emma Children's Hospital, VU University Amsterdam, Amsterdam, Netherlands.

Interactions between the genome and intrauterine environment can affect bone mineralization in newborns and even in adult life. Several studies show that intrauterine fetal bone mineralization or early postnatal bone condition influences the risk of osteoporosis in later life. To determine whole body bone mineral content (WB BMC) and factors that influence neonatal WB BMC in Indonesian term newborns. Read More

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Neurodevelopmental outcome of patients with congenital gastrointestinal malformations: a systematic review and meta-analysis.

Arch Dis Child Fetal Neonatal Ed 2021 Jun 10. Epub 2021 Jun 10.

Department of Pediatrics, Emma Neuroscience Group, Amsterdam Reproduction & Development Research Institute, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Aim: Children with congenital gastrointestinal malformations may be at risk of neurodevelopmental impairment due to challenges to the developing brain, including perioperative haemodynamic changes, exposure to anaesthetics and postoperative inflammatory influences. This study aggregates existing evidence on neurodevelopmental outcome in these patients using meta-analysis.

Method: PubMed, Embase and Web of Science were searched for peer-reviewed articles published until October 2019. Read More

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Preoperative multidisciplinary team assessment is associated with improved survival in patients with locally advanced colon cancer; a nationwide cohort study in 3157 patients.

Eur J Surg Oncol 2021 May 14. Epub 2021 May 14.

Department. of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Pelvic Cancer, GI Oncology and Colorectal Surgery Unit, Karolinska University Hospital, Stockholm, Sweden.

Introduction: Multidisciplinary team (MDT) assessment is associated with improved survival in locally advanced rectal cancer, but the effect of an MDT assessment on survival in locally advanced colon cancer has not been reported. The aim of this national population-based cohort study was to establish if preoperative MDT assessment affects prognosis in patients with primary locally advanced colon cancer.

Material And Methods: All patients in Sweden with locally advanced colon cancer, without metastatic disease, who underwent an elective colon resection between 2010 and 2017 were identified through the Swedish Colorectal Cancer Registry (SCRCR), and the cohort was linked to national registers. Read More

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Macrosomia and large for gestational age in Asia: One size does not fit all.

J Obstet Gynaecol Res 2021 Jun;47(6):1929-1945

Department of Pediatrics, University Medical Centre Groningen, Groningen, The Netherlands.

Macrosomia, usually defined as infant birth weight of ≥4000 g, does not consider gestational age, sex, or country/region-specific differences in mean birth weight and maternal body weight. This issue is particularly relevant for Asia, where 60% of the world's population lives, due to variations in maternal size and birth weights across populations. Large for gestational age (LGA), defined as birth weight > 90th centile, is a more sensitive measure as it considers gestational age and sex, though it is dependent on the choice of growth charts. Read More

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International consensus on minimum preclinical testing requirements for the development of innovative therapies for children and adolescents with cancer.

Mol Cancer Ther 2021 Jun 9. Epub 2021 Jun 9.

Eli Lilly (United States).

Cancer remains the leading cause of disease-related death in children. For the many children who experience relapses of their malignant solid tumors, usually after very intensive first-line therapy, curative treatment options are scarce. Preclinical drug testing to identify promising treatment elements that match the molecular make-up of the tumor is hampered by the fact that 1) molecular genetic data on pediatric solid tumors from relapsed patients and thus our understanding of tumor evolution and therapy resistance are very limited to date and 2) for many of the high-risk entities, no appropriate and molecularly well characterized patient-derived models and/or genetic mouse models are currently available. Read More

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Treatment-related risk factors for inhibitor development in non-severe hemophilia A after 50 cumulative exposure days: a case-control study.

J Thromb Haemost 2021 Jun 9. Epub 2021 Jun 9.

Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Pediatric Hematology, Amsterdam, The Netherlands.

Background: Non-severe hemophilia A patients have a life-long inhibitor risk. Yet, no studies analyzed risk factors for inhibitor development after 50 factor VIII (FVIII) exposure days (EDs).

Objectives: This case-control study investigated treatment-related risk factors for inhibitor development in non-severe hemophilia A and assessed whether these risk factors were different for early versus late inhibitor development. Read More

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Development and psychometric evaluation of the CO-PARTNER tool for collaboration and parent participation in neonatal care.

PLoS One 2021 9;16(6):e0252074. Epub 2021 Jun 9.

Department of Pediatrics and Neonatology, OLVG, Amsterdam, The Netherlands.

Background: Active parent participation in neonatal care and collaboration between parents and professionals during infant hospitalization in the neonatal intensive care unit (NICU) is beneficial for infants and their parents. A tool is needed to support parents and to study the effects and implementation of parent-partnered models of neonatal care.

Methods: We developed and psychometrically evaluated a tool measuring active parent participation and collaboration in neonatal care within six domains: Daily Care, Medical Care, Acquiring Information, Parent Advocacy, Time Spent with Infant and Closeness and Comforting the Infant. Read More

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Association of Chemotherapy Timing in Pregnancy With Congenital Malformation.

JAMA Netw Open 2021 Jun 1;4(6):e2113180. Epub 2021 Jun 1.

Center for Gynecological Oncology Amsterdam, Antoni van Leeuwenhoek-Netherlands Cancer Institute, Amsterdam, the Netherlands.

Importance: Chemotherapy during the first trimester of pregnancy should be avoided owing to the risk of congenital malformations. However, the precise gestational age at which chemotherapy can be initiated safely remains unclear.

Objective: To assess congenital malformation rates associated with gestational age at initiation of chemotherapy among pregnant women with cancer. Read More

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Child abuse and neglect in paediatric burns: The majority is caused by neglect and thus preventable.

Burns 2021 May 21. Epub 2021 May 21.

Emma Children's Hospital, Paediatric Surgical Centre Amsterdam, Amsterdam UMC, University of Amsterdam & Vrije Universiteit Amsterdam, Department of Paediatric Surgery, Amsterdam, The Netherlands. Electronic address:

Introduction: It is complex to distinguish negligent burns from inflicted and non-intentional burns, especially since no deliberate action caused the burn. Its recognition is important to create a safe life without (future) burns for our loved-ones who cannot take care of themselves (yet). Our aim was to investigate the incidence and associated characteristics of negligent burns are among children treated at a burn center. Read More

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A core Outcome Set for Seamless, Standardized Evaluation of Innovative Surgical Procedures and Devices (COHESIVE): A Patient and Professional Stakeholder consensus Study.

Ann Surg 2021 Jun 7. Epub 2021 Jun 7.

National Institute for Health Research Bristol and Weston Biomedical Research Centre, Bristol Centre for Surgical Research, Bristol Medical School: Population Health Sciences, University of Bristol, 39 Whatley Road, Clifton, Bristol, BS8 2PS, UK Gastrointestinal Surgery, North Bristol NHS Trust, Southmead Road, Bristol, BS10 5NB Division of Surgery, Bristol Royal Infirmary, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW Bristol Breast Care Centre, North Bristol NHS Trust, Southmead Road, Bristol, BS10 5NB.

Objective: To develop a core outcome set (COS), an agreed minimum set of outcomes to measure and report in all studies evaluating the introduction and evaluation of novel surgical techniques.

Summary Background Data: Agreement on the key outcomes to measure and report for safe and efficient surgical innovation is lacking, hindering transparency and risking patient harm.

Methods: (I) Generation of a list of outcome domains from published innovation-specific literature, policy/regulatory body documents, and surgeon interviews; (II) Prioritization of identified outcome domains using an international, multi-stakeholder Delphi survey; (III) Consensus meeting to agree the final COS. Read More

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Variation in latent social profiles of adolescent ADHD and related clinical features.

Psychiatry Res 2021 May 19;302:114014. Epub 2021 May 19.

School of Psychology, Deakin University, Geelong, VIC, Australia; Murdoch Childrens Research Institute, Parkville, VIC, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. Electronic address:

Social impairment is a hallmark of Attention-deficit/hyperactivity disorder (ADHD), but the extent of variation in adolescent social strengths and weaknesses is unclear. We compared teacher-reported characteristics of social functioning in adolescents with a history of ADHD (N = 340), and without ADHD (N = 182) from the NIMH Collaborative Multisite Multimodal Treatment Study of Children with ADHD (MTA) at 72-month follow-up (13 - 15.9 years-old). Read More

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Pediatric long-COVID: An overlooked phenomenon?

Pediatr Pulmonol 2021 Jun 8. Epub 2021 Jun 8.

Department of Pediatric Pulmonology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.

Background: Long-COVID is a well-documented multisystem disease in adults. Far less is known about long-term sequelae of COVID in children. Here, we report on the occurrence of long-COVID in Dutch children. Read More

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Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Nature 2021 Jun 7. Epub 2021 Jun 7.

Biozentrum, University of Basel, Basel, Switzerland.

Following its emergence in late 2019, the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been tracked via phylogenetic analysis of viral genome sequences in unprecedented detail. While the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, within Europe travel resumed in the summer of 2020. Read More

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Preinjury Functional Independence is not Associated with Discharge Location in Older Trauma Patients.

J Surg Res 2021 Jun 4;266:413-420. Epub 2021 Jun 4.

Department of Surgery, University of Wisconsin School of Medicine, Madison, WI.

Background: The purpose of this study was to evaluate the association between pre-injury Katz Index of Independence in Activities of Daily Living (Katz ADL) functional status and discharge to a facility in non-neurologically injured older trauma patients.

Methods: Data were obtained from 207 patients in the Trauma Medical Home study cohort. Multivariable logistic regression was performed to identify factors associated with non-home discharge. Read More

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General and dietary oxalate restriction advice reduces urinary oxalate in the stone clinic setting.

S Afr J Surg 2020 Dec;58(4):210-212

Division of Urology, Groote Schuur Hospital, University of Cape Town, South Africa.

Background: Idiopathic hyperoxaluria is a risk factor for developing calcium oxalate nephrolithiasis. Dietary oxalate's effect on urinary oxalate is not well studied. The aim of this study is to assess the effect of advice focused on reducing dietary oxalate in a cohort of idiopathic hyperoxaluric patients. Read More

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December 2020

A Collaborative Effort to Advance Drug Development in Pediatric Constipation and Irritable Bowel Syndrome.

J Pediatr Gastroenterol Nutr 2021 Jun 1. Epub 2021 Jun 1.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Holtz Children's Hospital, Miami, FL; University of Miami, Miller School of Medicine, Miami, FL Center for Motility and Functional Gastrointestinal Disorders, Boston Children's Hospital, Boston, MA; Professor of Pediatrics, Harvard Medical School, Boston, MA Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands Division of Pediatric Gastroenterology, Hepatology and Nutrition at Nationwide Children's Hospital, Nationwide Children's Hospital, Columbus, OH GI Care for Kids, Atlanta, GA; Neurogastroenterology and Motility Program, Children's Healthcare of Atlanta, Atlanta, GA Neurogastroenterology and Motility Unit, Department of Paediatric Gastroenterology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom; UCL Great Ormond Street Institute of Child Health, London, United Kingdom Paediatric Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Brisbane, Australia Division of Regulatory Operations for Immunology and Inflammation, Center for Drug Evaluation and Research, U.S. Food and Drug Administration Division of Gastroenterology, Center for Drug Evaluation and Research, U.S. Food and Drug Administration.

Abstract: Pediatric functional gastrointestinal disorders including irritable bowel syndrome with constipation and functional constipation are common conditions in childhood, but no drugs are FDA approved for chronic use in pediatric patients with these disorders. Despite efforts to better standardize the diagnosis of these conditions in children (including recent modifications to the Rome criteria), conducting pediatric clinical trials to support drug approval remains a challenge. In March 2018, the U. Read More

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The social meanings of choice in living-with advanced breast cancer.

Soc Sci Med 2021 Jul 20;280:114047. Epub 2021 May 20.

Mater Hospital, North Sydney, The University of Sydney, Sydney, New South Wales, Australia. Electronic address:

Individual choice is valorised as a core social value; yet the necessity and desirability of making choices takes on new significance for people living with incurable cancer who are required to make often difficult decisions about treatment, care and family life, amidst considerable vulnerability and precariousness. There has been comparatively little exploration of how choice is negotiated and made meaningful under the spectre of incurability and a contracted future. In this paper, drawing on multiple qualitative interviews with 38 women with metastatic breast cancer, we explore how they experience and give meaning to choice in relation to their health (and beyond) in their daily lives. Read More

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Metabarcoding of Soil Fungi from Different Urban Greenspaces Around Bournemouth in the UK.

Ecohealth 2021 Jun 5. Epub 2021 Jun 5.

Toxicology Department, Centre for Radiation, Chemical and Environmental Hazards, Public Health England, Harwell Campus, Chilton, Oxfordshire, OX11 0RQ, UK.

Soil microbes are important for public health. Increasing urbanisation is adversely affecting soil microbiota, which may be contributing to the global rise of immune-related diseases. Fungi are key components of urban environments that can be negatively impacted by altered land-use, land-management and climate change, and are implicated in the development and exacerbation of non-communicable diseases such as allergy, asthma and chronic inflammatory conditions. Read More

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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

Am J Med Genet A 2021 Jun 4. Epub 2021 Jun 4.

Murdoch Children's Research Institute, Parkville, Australia.

Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of children with severe progressive neurological disease and in three adult siblings with a more slowly, progressive neurological disease and distinct leukoencephalopathy. We report three further adult individuals who share a distinct pattern of white matter abnormality on brain MRI in association with biallelic variants in HMBS, two individuals with homozygous variants, and one with compound-heterozygous variants. Read More

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Patient and caregiver perspectives on blood pressure in children with chronic kidney disease.

Nephrol Dial Transplant 2021 Jun 4. Epub 2021 Jun 4.

College of Medicine and Public Health, Flinders University, Adelaide, Australia.

Background: Over 50% of children with chronic kidney disease (CKD) have uncontrolled hypertension, increasing their long-term risk of cardiovascular disease and progression to kidney failure. Children receiving medications or dialysis may also experience acute blood pressure fluctuations accompanied by debilitating symptoms. We aimed to describe the perspectives of children with CKD and their parental caregivers on blood pressure, to inform patient-centered care. Read More

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