A5021947191- Complement system in diseases
- Renal Diseases and Glomerulopathies
- Escherichia coli research studies
- Bone health and osteoporosis research
- Parathyroid Disorders and Treatments
- Vitamin D Research Studies
- Adenosine and Purinergic Signaling
- Renal and Vascular Pathologies
- Immune Cell Function and Interaction
- Clostridium difficile and Clostridium perfringens research
- Genetic and Kidney Cyst Diseases
- Pediatric Urology and Nephrology Studies
- Blood disorders and treatments
- Dermatological and Skeletal Disorders
- Lysosomal Storage Disorders Research
- Biomedical Research and Pathophysiology
- Chronic Kidney Disease and Diabetes
- Malaria Research and Control
- Autoimmune Neurological Disorders and Treatments
- Viral gastroenteritis research and epidemiology
- Renal Transplantation Outcomes and Treatments
- Hemoglobinopathies and Related Disorders
- Electrolyte and hormonal disorders
- Hip and Femur Fractures
- Vitamin C and Antioxidants Research
Ospedale Pediatrico Giovanni XXIII
2015-2025
University of Bari Aldo Moro
2021
Hospital Erasto Gaertner
2019
Boston Children's Hospital
2014
Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD caused mutations in the gene SMARCAL1. We report clinical genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because nephrotic-range proteinuria occasionally detected during follow-up for congenital hypothyroidism. Mutational analysis SMARCAL1 was performed polymerase...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In past decade, it has become more widely appreciated that course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk are lacking. Also, scoring systems stratify patients into categories have been established only for adults. Overall, there insufficient...
Loss-of-function mutations in the CYP24A1 gene, which encodes vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis infants adults. As only case report describing 2 adult patients has reported Italian population, we here mutation analysis gene an cohort 12 pediatric with idiopathic infantile hypercalcemia (IIH).We performed mutational screening patients: 8 children...
Background: The correlation between the severity of hemolytic uremic syndrome related to Shiga toxin–producing Escherichia coli (STEC-HUS) and involvement complement system has been examined in a small number studies, with conflicting results. In present study we investigated whether serum C3 levels on admission are associated neurologic involvement. Methods: To this purpose, 68 consecutive STEC-HUS patients were recruited main clinical laboratory variables ad hospital compared those or...
The gastrointestinal (GI) tract represents one of the main targets typical hemolytic uremic syndrome (HUS) in children. In this observational study, we tried to establish (1) features GI complications during STEC-HUS and (2) relationship between Escherichia coli serotypes Shiga toxin (Stx) variants with hepatopancreatic involvement.
To describe an operating protocol for bloody diarrhea (BD) in a pediatric population as rapid response to public health threat represented by excess of HUS cases the Apulia region (Southern Italy) starting from 2013. The was set up with goal correct clinical management Shiga toxin-producing Escherichia coli (STEC) infections, reductions subsequent hemolytic uremic syndrome (HUS), and improved short- long-term disease outcomes. consisted hospitalization children (BD), hematochemical...
Our study evaluated the possible interference of Burosumab (human recombinant monoclonal antibody directed against N-terminal domain FGF23) on immunoassay intact FGF23 (iFGF23) with Liaison XL. The analytical method uses three different antibodies, one which portion FGF23. evaluation accuracy involved fully automated execution a dilution test EDTA plasma from 5 subjects who had not received any (mAb), 20 patients treated Burosumab, and 2 mAb in witch an adequate volume been added vitro. One...
The Neurological involvement is the most common extra-renal complication of Shiga toxin-producing E. coli-hemolytic uremic syndrome (HUS) or typical HUS. On brain magnetic resonance examination, main neurological signs encompass acute lesions basal ganglia and white matter, which could usually regress after Eculizumab infusion. In contrast, peripheral nervous system (PNS) manifestations in HUS are very rare and, when occurring, they require a careful management sequelae an intensive...
Background: The management of children and adolescents with chronic kidney disease (CKD) growth failure candidate for recombinant human hormone therapy (rhGH) is based on an appraisal the literature established a 2006 consensus statement 2019 Clinical practice recommendations. performance these guidelines has never been tested. Aims: objective this study was to establish level adherence international criteria that lead initiation treatment by both pediatric endocrinologists nephrologists....
Recurrence of focal segmental glomerulosclerosis (FSGS) after kidney transplantation (KTx) develops in 40% patients, leading to graft loss half cases. Extracorporeal apheretic treatments, combined with immunosuppressive drugs, seem be the most promising therapies, but at now limited reports are available, mainly pediatric patients.We aimed assess efficacy immunoadsorption (IA) treat recurrent FSGS report a case series 4 patients (aged 4-12 years) followed our institution for early KTx....
<title>Abstract</title> Anemia is a frequent complication in pediatric kidney transplant recipients (KTR) with variable reported prevalence between 20 and 80% depending on its definition. Causes of risk factors for post-transplantation anemia (PTA) are multifactorial iron deficiency being the primary cause early PTA. Post therapy may be challenging should directed to underlying causes. Iron supplementation indicated. Oral could ineffective, some studies demonstrated superior performance...
Malaria (M), the first parasitic infection, is sometimes associated with nephrotic syndrome (NS) in tropical areas. Kidney involvement during quartan malaria represented by immune-complex mediated glomerulonephritis (GN). Generally, NS develops several weeks after onset of fever and its clinical course proceeds slowly to end-stage kidney disease (ESKD) even eradication infection. We describe a case Plasmodium malariaeassociated chronic proliferative glomerulopathy boy from Uganda. Renal...
Introduction: Mid-Aortic Syndrome (MAS) is a rare vascular malformation characterized by segmental narrowing of the abdominal aorta and stenosis its principal branches. Patients affected MAS typically present malignant renovascular hypertension, with variable clinical symptoms like claudication, angina, headache. Moreover, they can develop other complications, such as hypertensive encephalopathy, congestive heart failure brain accidents. Hypertension often resistant to multidrug therapy,...
Abstract Background. The Neurological involvement is the most common extra-renal complication of Shiga toxin-producing Escherichia coli-hemolytic uremic syndrome (STEC-HUS). On brain magnetic resonance examination, main neurological signs encompass acute lesions basal ganglia and white matter, which could usually regress after Eculizumab infusion. In contrast, STEC-HUS-related peripheral nervous system (PNS) very rare and, when occurring, it requires a careful management sequelae an...