A5053035319- Connective tissue disorders research
- Bone health and treatments
- Bone health and osteoporosis research
- Infectious Diseases and Tuberculosis
- Systemic Lupus Erythematosus Research
- Parathyroid Disorders and Treatments
- Autoimmune and Inflammatory Disorders Research
- Bone Tumor Diagnosis and Treatments
- Kawasaki Disease and Coronary Complications
- Orthopedic Infections and Treatments
- Medical Imaging and Pathology Studies
- Bone Metabolism and Diseases
- Osteomyelitis and Bone Disorders Research
- interferon and immune responses
- Maternal and Perinatal Health Interventions
- Global Maternal and Child Health
- Inflammasome and immune disorders
- Kidney Stones and Urolithiasis Treatments
- Sarcoma Diagnosis and Treatment
- RNA regulation and disease
- Ocular Diseases and Behçet’s Syndrome
- Child and Adolescent Health
- Ubiquitin and proteasome pathways
- Wnt/β-catenin signaling in development and cancer
- Spondyloarthritis Studies and Treatments
National and Kapodistrian University of Athens
2011-2025
Stellenbosch University
2024
Aga Khan University Nairobi
2021
University General Hospital Attikon
2010-2015
Abstract Background Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present Case with combined AGS and Cornelia de Lange (CdLS)—a cohesinopathy—with comprehensive analysis the immune genomic abnormalities. methods A 20-year old man presented chilblain lesions resorption distal phalanges fingers toes, somatic psychomotor retardation, microcephaly, synophrys, hearing losing other aberrancies consistent...
ABSTRACT Objective To compare the proportion of small‐for‐gestational‐age (SGA) infants detected by routine third‐trimester ultrasound vs those selective based on serial symphysis–fundus height (SFH) measurements (standard care) in low‐risk pregnancy. Methods This was an open‐label randomized controlled trial conducted at a hospital Kenya between May 2018 and February 2020. Low‐risk pregnant women were randomly allocated (ratio 1:1) to for fetal growth assessment 36 + 0 37 6 weeks' gestation...
Bisphosphonates are employed with increasing frequency in various pediatric disorders, mainly associated osteoporosis. After cessation of bisphosphonate treatment children, skeletal radiologic changes have been documented including dense metaphyseal lines the long bones and "bone bone" appearance vertebrae. However, evolution these radiographic has not fully explored. We describe MR imaging spine that, to our knowledge, previously addressed a child idiopathic juvenile osteoporosis who had...
Secondary systemic vasculitis after posterior spinal fusion surgery is rare. It usually related to over-reaction of immune-system, genetic factors, toxicity, infection or metal allergies. A 14 year-old girl with a history extended due idiopathic scoliosis presented our department diffuse erythema and nephritis (macroscopic hemuresis proteinuria) 5 months post surgery. The surgical trauma had no signs inflammation infection. blood markers ESR CRP were increased. Skin tests positive for nickel...
Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely heterozygous for mutations. These may present acute or chronic hepatitis, without liver failure. Non-alcoholic mild hyperbilirubinemia, elevation enzymes unknown etiology should also...
Chronic nonbacterial osteomyelitis (CNO) is a pediatric autoinflammatory disorder presenting with sterile inflammatory bone lesions. Whole-body MRI (WBMRI) has most recently emerged for disease assessment, but data are limited.The purpose to evaluate the imaging findings and patterns of CNO on WBMRI in series Greek patients.Whole-body magnetic resonance studies all children documented CNO, performed single tertiary center, were retrospectively reviewed. included coronal T1 short-tau...
We report the case of an 11-year-old preadolescent girl presenting with prolonged fever, lymphadenitis, nonpurulent conjunctivitis, a generalized maculopapular rash, erythematous lips and edema hands/feet. Although major diagnostic criteria for Kawasaki disease were met, local epidemiologic data suggested possible vector-borne etiology. Treatment doxycycline was initiated, defervescence occurred. Laboratory investigation confirmed diagnosis Rickettsia typhi infection.
Despite evidence that supports the utilisation of upright positions in second stage labour, women who choose to give birth a hospital are more likely supine on bed. Little about this aspect midwifery practice exists currently. The focus review is identifying barriers midwives face promotion during normal labour. Bhaskar’s critical realist ontology was used answer question: “What when facilitating birth?†Institutionalisation engendered dominated by medical policies and procedures,...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non Mendelian autoinflammatory disorder until now considered to be specifically limited paediatric age.However there recently mounting evidence that children older than 5 years adults may present with the typical picture of PFAPA syndrome.Objectives: We report case 17,5 old girl presenting recurrent episodes fever starting at age 16.Methods: A was referred our department due lasting...
ABS TRACTWe present an adolescent girl with severe kyphoscoliosis and inability of walking due to progressive pseudorheumatoid dysplasia (PPD) who was initially misdiagnosed as juvenile idiopathic arthritis for 9 years.The lack inflammatory joint involvement laboratory parameters, along the characteristic radiological findings should raise suspicion PPD.
The role of WNT pathway in bone formation and maintenance has been extensively studied since the identification mutations key signalling mediators diseases with high or low bone-mass phenotypes. In humans, loss-of-function WISP3, encoding Wnt1-inducible signaling protein 3, cause progressive pseudorheumatoid dysplasia (PPD), an autosomal recessive form spondyloepiphyseal tarda. Individuals PPD appear normal at birth, have subtle clinical symptoms by 3 years age develop later a severe...
mainly based on the inherited mutations in COL1A1 (OMIM #120150) and COL1A2 #120160) genes clinical characteristics of patients 7 .
Methods We present a 14y old girl with polyostotic fibrous dysplasia (right humerus, femur, tibia, skull), precocious puberty and cafe au lait skin spots, diagnosed as MAS confirmed heterozygous c.601C>T mutation of the GNAS1 gene. Due to initial bone pain continuously increasing turnover, patient was treated iv bisphosphonates for 4 years. used pQCT estimate strength parameters at site lesion right tibia (38% length) vs same left (healthy) baseline after treatment. A Stratec XCT-2000...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Results Ocular symptoms were unresponsive to treatment with local and systemic steroids, methotrexate plus cyclosporine in all patients. One child had also received etanercept for 2.5 years poor response. Due frequent relapses of uveitis (especially when tapering steroids) we commenced adalimumab (24mg/m body surface sc/14 days), while was withdrawn. The mean duration until then 27 months the age patients at initiation 7.3 years. All least one complication (synechiae: 2 children, band...
Idiopathic hypercalciuria (IH) is defined as excessive 24 h urinary calcium excretion (>4 mg/kg/24h), that persists after correction of dietary imbalances, in the absence secondary causes. Decreased areal BMD children with IH has been reported recent studies DXA.