A5075242670- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Glycosylation and Glycoproteins Research
- Galectins and Cancer Biology
- Cellular transport and secretion
- Child Nutrition and Feeding Issues
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Studies on Chitinases and Chitosanases
- Protease and Inhibitor Mechanisms
- Obesity, Physical Activity, Diet
- Genetic Neurodegenerative Diseases
- Trypanosoma species research and implications
- Folate and B Vitamins Research
- Cancer Treatment and Pharmacology
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- RNA regulation and disease
- Amino Acid Enzymes and Metabolism
- Lung Cancer Treatments and Mutations
Great Ormond Street Hospital
2015-2024
University College London
2015-2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2017-2024
National Health Service
2023
Center for Children
2021
Wellcome Centre for Mitochondrial Research
2021
Children's Hospital Foundation
2021
National Hospital for Neurology and Neurosurgery
2021
Aristotle University of Thessaloniki
2010-2020
Hellenic Agency for Local Development and Local Government
2014
<i>Objective:</i> The objective of this phase III trial was to compare chemotherapy combined with bevacizumab versus alone in the treatment patients advanced colorectal cancer. <i>Methods:</i> From September 2004 till 2008, 222 treatment-naive were enrolled and divided into 2 arms: 114 arm A treated leucovorin, 5-fluorouracil plus irinotecan combination bevacizumab, 108 B as above without bevacizumab. All stage IV histologically confirmed adenocarcinoma....
The high-affinity copper transporter CTR1 is encoded by (SLC31A1), a gene locus for which no detailed genotype-phenotype correlations have previously been reported. We describe identical twin male infants homozygous novel missense variant NM_001859.4:c.284 G > A (p.Arg95His) in with distinctive autosomal recessive syndrome of infantile seizures and neurodegeneration, consistent profound central nervous system deficiency. used clinical, biochemical molecular methods to delineate the first...
Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression. This study aimed to better characterize the spectrum movement disorders in CLN2-disease a cohort children receiving enzyme replacement therapy (ERT).
Acute exacerbations of chronic obstructive pulmonary disease (AE-COPD) are associated with accelerated aggravation clinical symptoms and deterioration function. The mechanisms by which may contribute to airway remodeling declined lung function poorly understood. In this study, we investigated if AE-COPD differential expression matrix metalloproteinases (MMPs) their tissue inhibitors (TIMPs) in bronchoalveolar lavage (BAL). COPD patients undergoing diagnostic bronchoscopy, either stable (n =...
Abstract ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result damaging variants in ALDH7A1, gene the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ 1 ‐piperideine‐6‐carboxylate (P6C), which accumulate because block pathway, are diagnostic biomarkers for this disorder. Recently, it has been reported that 6‐oxo‐pipecolic acid (6‐oxo‐PIP) also accumulates urine, CSF plasma...
We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought determine the utility of clinical exome sequencing a large cohort with suspected explore whether any traditional indicators predict confirmed genetic diagnosis.We investigated 85 patients using compared results outcome tests, including biochemical testing routine parameters (lactate, alanine, proline), neuroimaging, muscle biopsy histology respiratory...
Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy a significant but underrecognized complication of disease, affecting both arterial and venous blood vessels all sizes. Moyamoya syndrome cerebral that only rarely observed in association with NF1, particularly pediatric age range. Herein, we report 5-year-old female moyamoya briefly review existing literature.
<h3>SUMMARY:</h3> Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the <i>BTD</i> gene. Resultant of free biotin leads to impaired activity enzyme carboxylase and related neurologic, dermatologic, ocular symptoms. Many these are reversible on treatment, but early recognition commencement supplementation critical. This practice especially important countries where routine neonatal screening for biotinidase not performed. In this report comprising 14...
Little is known about the optimal dietary treatment for citrin deficiency. Our aim to describe management of UK deficiency patients.A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, clinical outcome.data 32 patients 21 families. 50% females (16/32). Median age at diagnosis 4 y (5 days-35 y) with 12 diagnosed in neonatal period intrahepatic cholestasis (NICCD), eight later childhood (FTTDCD) by family screening based...
Abstract Glycosylphosphatidylinositol anchored proteins (GPI‐APs) represent a class of molecules attached to the external leaflet plasma membrane by GPI anchor where they play important roles in numerous cellular processes including neurogenesis, cell adhesion, immune response and signalling. Within group defects, six present with clinical phenotype Hyperphosphatasia Mental Retardation Syndrome (HPMRS, Mabry Syndrome) characterized moderate severe intellectual disability, dysmorphic...
Abstract Background Fairy tales have always been an integrated part of children's everyday life. In our days, they still represent important ways helping the children share their desires and express agonies inner conflicts. The present descriptive qualitative study aims to describe parents' opinions preferences regarding storytelling. Methods Four hundred seventy parents took in were interviewed following a semi‐structured guide with open‐ended trigger questions. Data processed via content...
Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding chain nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, Epstein syndromes are four phenotypes disease, characterized congenital macrothrombocytopenia distinguished different combinations clinical signs that may include glomerulonephritis, sensorineural hearing loss, presenile cataract. The spectrum responsible for disease is wide...
Context: Although opiate abuse is known to affect matrix metalloproteinases (MMPs), data on these enzymes and their tissue inhibitors in heroin addicts are scarce.Objective: In the present study, we determined serum concentrations of MMP-2, MMP-9, metalloproteinase (TIMP)-1 TIMP-2 users, compared them with healthy individuals. We evaluated whether 21 d abstinence adequate reverse effect opiates seropositive seronegative, for anti-HCV antibodies, users.Materials methods: Twenty-six...
The aim of this research was to investigate the strength potential risk factors (demography, socioeconomics, and nutrition) for childhood overweight or obesity in a pediatric population aged 11 12 years old from Kavala, Northern Greece. Auxologic measurements children included height weight. A structured questionnaire concerning socioeconomic status family, anthropometric values (weight height) educational parents, diet history, dietary habits, availability intake various food products...
BackgroundSanfilippo type B is a mucopolysaccharidosis (MPS) with major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for MPS requires efficient enzyme delivery throughout brain order normalize HS levels, prevent atrophy, and potentially delay cognitive decline.MethodsIn this phase I/II open-label study, patients IIIB (n = 22) were treated tralesinidase alfa...
Mucopolysaccharidoses (MPS) represent a heterogeneous group of hereditary disorders, characterized by accumulation glycosaminoglycans within the lysosomes. The objective this study was to elucidate expression and activity matrix metalloproteinases (MMPs) in serum pediatric patients with MPS. Serum gelatinase assessed gelatin zymography concentration circulating MMP-2, MMP-9, tissue inhibitors MMPs (TIMP)-1 TIMP-2 measured ELISA seven MPS (five III, 1 II VI), healthy age- sex-matched...
To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB.Sixty-five children a confirmed diagnosis MPS IIIB were enrolled into 1 2 studies and followed for up to 4 years. Cognitive adaptive behavior functions analyzed all subjects, volumetric magnetic resonance imaging analysis liver, spleen, brain, as well levels heparan sulfate (HS) nonreducing ends (HS-NRE), measured subset subjects.The majority achieved...