A5019376159- Lysosomal Storage Disorders Research
- Coronary Artery Anomalies
- Trypanosoma species research and implications
- Autoimmune and Inflammatory Disorders Research
- Congenital Heart Disease Studies
- Hemophilia Treatment and Research
- Non-Invasive Vital Sign Monitoring
- Soft tissue tumor case studies
- Infectious Diseases and Tuberculosis
- Bone Tumor Diagnosis and Treatments
- Cardiac Structural Anomalies and Repair
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Respiratory Support and Mechanisms
- Pharmacological Effects and Toxicity Studies
- Studies on Chitinases and Chitosanases
- Pediatric Hepatobiliary Diseases and Treatments
- Complement system in diseases
- Infective Endocarditis Diagnosis and Management
- Osteomyelitis and Bone Disorders Research
- Carbohydrate Chemistry and Synthesis
- Cancer and Skin Lesions
- Tumors and Oncological Cases
- Glycogen Storage Diseases and Myoclonus
- Hypothalamic control of reproductive hormones
- Hypertrophic osteoarthropathy and related conditions
Ospedale Pediatrico Giovanni XXIII
2014-2025
European Institute of Oncology
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
Boston Children's Hospital
2013
Cardiovascular magnetic resonance (CMR) and computed tomography (CCT) are advanced imaging modalities that recently revolutionized the conventional diagnostic approach to congenital heart diseases (CHD), supporting echocardiography often replacing cardiac catheterization. This is second of two complementary documents, endorsed by experts from Working Group Italian Society Pediatric Cardiology College Cardiac Radiology Medical Interventional Radiology, aimed at giving updated indications on...
Background/Objectives: Chronic non-bacterial osteomyelitis (CNO) is a rare autoinflammatory disease characterized by chronic sterile uni- or multifocal osteomyelitis. The treatment of CNO mostly empirical and the outcome has not yet been standardized. aims this study were to correlate clinically active lesions with radiological signs inflammation evaluate outcomes in terms symptoms Whole Body Magnetic Resonance Imaging (WB-MRI) based on line used. Methods: A retrospective, observational...
<b><i>Background/Aims:</i></b> Gonadotropin-releasing hormone analogues (GnRHa) represent the gold standard treatment for central precocious puberty (CPP). We aimed to assess effects of GnRHa on metabolic outcomes, bone status, and polycystic ovary syndrome (PCOS) prevalence in young girls with idiopathic CPP (ICPP). <b><i>Methods:</i></b> enrolled 94 ICPP who were at least 2 years after menarche had already attained adult height time study: 56...
Abstract Background In GM1 gangliosidosis the lack of function β‐galactosidase results in an accumulation ganglioside and related glycoconjugates visceral organs, particularly central nervous system, leading to severe disability premature death. type 2 form disease, early intervention would be important avoid precocious complications. To date, there are no effective therapeutic options preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a...
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of Notch signaling pathway. In this paper, we described a novel mutation not yet reported literature. This 3-years old male child was referred to our Clinical Genetics Unit because delayed psychomotor development, systolic murmur, dysmorphic facial features, and hypertransaminasemia. The c.2026delT variant exon 16...
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement have short life expectancy. Attenuated forms clinical features limited to minor skeletal abnormalities stature also been described, sometimes associated an early-onset osteoporotic phenotype. No treatment allogenic bone marrow...
Cutis verticis gyrata (CVG) is a rare disorder of the scalp that entails development ridges and furrows, which mimic anatomical conformation brain. This skin condition has been classified in primary essential, non-essential, secondary CVG, depending on presence or absence other associated disorders. We present case report one-month-old female newborn affected by congenital CVG (CCVG), who also received diagnosis Turner syndrome (TS). Skin folding was at birth located left frontal region...
Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of disease variability clinical presentation. Short stature impaired growth velocity are frequent findings MPS Ia, but they rarely raise suspicion as paediatric endocrinologists generally poorly trained detect earlier milder signs this condition. Materials Methods: Following a consensus-based methodology, multidisciplinary panel including endocrinologists,...
The treatment of primary malignant phyllodes tumors the breast (B-MPT) consists wide local excision with negative margins (≥1 cm). However, because their rarity, prognostic factors, optimal type surgery and adjuvant treatments are still a matter debate. We conducted single-center, retrospective study on clinical outcomes factors in patients B-MPT, who underwent from January 2000 to December 2021. endpoint was cumulative incidence any recurrence. Secondary endpoints were distant recurrences....
Abstract Uremic osteodystrophy is an expected complication in subjects with chronic renal insufficiency. It develops gradually and progressively already during the conservative treatment then dialysis treatment. can present a wide histopathological spectrum including typical alterations (from osteitis fibrosa to osteomalacia and/or mixed lesions) or, more rarely, isolated bone lesions indicative of brown tumor bone. These conditions must be clearly identified pretransplant phase, especially...
Lipoblastoma (LB) is a rare mesenchymal tumor that generally occurs in children aged between 5 days and 6 years. The most frequent sites are the subcutaneous tissues of upper lower limbs, less head neck (including spinal cord), mediastinum, lungs, mesentery, peritoneal cavity, retroperitoneum, inguinal canal, scrotum. LB can become very large short time invade nearby structures, causing compressive symptoms. We reported case female 12-month-old patient who presented inappetence, fever,...
ABSTRACT Left ventricular pseudoaneurysm (LV-PSA) is a rare complication in children, usually developing after cardiac surgery, percutaneous procedures, infections, or trauma. Herein, we report case of large basal submitral LV-PSA 36-day-old baby, detected 26 days operation for hypoplastic arch, aortic coarctation, and small septal defect. No complications occurred the first postoperative course, early echocardiograms were normal. Despite dimension pseudoaneurysm, baby presented with only...