A5080412035- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Neuroblastoma Research and Treatments
- Hematological disorders and diagnostics
- Gastrointestinal disorders and treatments
- Appendicitis Diagnosis and Management
- Head and Neck Surgical Oncology
- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Genetics and Neurodevelopmental Disorders
- Orthopedic Infections and Treatments
- Infectious Diseases and Tuberculosis
- Renal cell carcinoma treatment
- Hernia repair and management
- Parvovirus B19 Infection Studies
- Mitochondrial Function and Pathology
- Hearing, Cochlea, Tinnitus, Genetics
- Neuroendocrine Tumor Research Advances
- Shoulder Injury and Treatment
- RNA modifications and cancer
- Testicular diseases and treatments
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Diverticular Disease and Complications
- Genomic variations and chromosomal abnormalities
IRCCS Materno Infantile Burlo Garofolo
2013-2025
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of congenital/childhood cases are attributable to genetic causes, highlighting importance testing in this class disorders. Here we applied a multi-step strategy for molecular diagnosis HL 125 patients, which included: (1) an accurate clinical evaluation, (2) analysis GJB2, GJB6, MT-RNR1 genes, (3) evaluation STRC-CATSPER2 OTOA deletions...
Epileptic encephalopathies (EEs) and developmental epileptic (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery numerous genes involved in these conditions. However, more than 50% patients remained undiagnosed. A major obstacle lies high degree genetic heterogeneity wide phenotypic variability that has characterized disorders. Interpreting large amount NGS data is also crucial...
Abstract Background Myositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO supposed to be an osteoblast metaplasia with benign and self-limiting course. Remarkably, at onset can clinically, radiologically histologically indistinguishable tissue malignancies, especially cases lacking history of trauma, leading misdiagnoses improper treatments. Case presentation A 13-year-old male was...
Abstract Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently an ID syndrome including severe speech impairment, cerebral atrophy, hypotonia as clinical cornerstones. A role IDs has proposed based on physical interaction of p300, possibly reducing p300 co‐activator complex activity, similarly to what was observed Menke‐Hennekam 1 2 patients (MKHK1 2) carrying, respectively, exon 30 31 CREBBP EP300 , which code for...
We present the case of a 15-year-old boy who presented to our emergency department because soft lesion growing on back his tongue. On examination, vegetant mass posteromidline lingual part body tongue was noticed: it not painful, even if reported discomfort its size; there no bleeding or signs infection. The magnetic resonance imaging showed as trilobated and capsulated, but diriment define diagnosis; excisional biopsy performed under general anesthesia, identified schwannoma. Schwannoma,...
A 1-year-old toddler was admitted with a 12-hour history of repeated vomiting. He had not passed stools for the past 3 days, or flatus in last 24 hours. Physical examination showed abdominal distention without pain guarding. An X-ray multiple air fluid levels distended small bowel (figure 1). video-assisted laparoscopy dilated loops. Figure 1 Multiple and loops no …
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKHS) syndrome refers to congenital hypoplasia/aplasia of the uterus, cervix and upper 2/3 vagina, in females with normal ovaries fallopian tubes, secondary sexual characteristics 46 XX karyotype. This condition originates from abnormal development Müller’s paramesonephric ducts early stages embryonic development. Kidney agenesis or malformations are most commonly associated unilateral kidney agenesis. Ovaries may be ectopic 16–19% MRKHS...
Headache is a common presenting complaint in pediatric emergency departments. The goal of emergent evaluation to identify those children with potentially life-threatening conditions. We present the case an adolescent boy headache and hypertension who was diagnosed catecholamine-secreting abdominal paraganglioma. Genetic testing eventually led diagnosis SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Alarm features ("red flags") are reviewed, as well main paragangliomas...
Procedural sedation is increasingly needed in pediatrics. Although different drugs or association are available, which the safest and most efficient has yet to be defined, especially syndromic children with increased sedation-related risk factors. we report case of a five-year-old child affected by alpha-mannosidosis who required procedural for an MRI scan lumbar puncture. We administered intranasal dexmedetomidine (4 μg/kg) 45 min before intravenous cannulation, followed one bolus ketamine...
A 15-day-old full-term newborn was admitted to the emergency department for right scrotal swelling, irritability and poor feeding that started 12 hours earlier, without fever or vomiting. Parents reported his last defecation occurred 3 days before admission. Physical examination remarkable a swollen, erythematous tender hemiscrotum (figure 1). Figure 1 Erythema swelling of hemiscrotum. Scrotal ultrasonography showed an inguinal hernia with air-filled tubular structure seemed somehow...
Schwannomas are benign, slow-growing tumors originating from the Schwann cells of nerve sheaths. Extracranial schwannomas rare, particularly in pediatric populations. Here, we report case a hypoglossal schwannoma 15-year-old male who experienced tongue paresthesia and fasciculations difficulty swallowing two years before hospital admission. Magnetic resonance imaging showed an oval mass with sharp regular limits approximately 45 × 29 25 mm cranial portion right carotid adipose space, caudal...
Background Brain magnetic resonance imaging (MRI) is mandatory or highly recommended in many pediatric endocrinological conditions to detect causative anatomic anomalies and rule out neoplastic lesions. However, MRI can also show findings associated with the underlying clinical condition, as well unrelated “incidentalomas”. These latter are often abnormalities a high incidence general population for which there no clear literature regarding their management, especially patients. The present...
A 3-year-old toddler was admitted for a 5-day history of worsening painful limping on his left leg. History remarkable only minor trauma 2 days before the onset symptoms; boy fell buttocks but walking normally in following days. No fever reported. Pain also present at night, with no response to oral ibuprofen. On physical examination, patient refused stand leg, palpation buttock evoked pain, and exorotation abduction hip were moderately limited, without local signs inflammation such as...
Hearing loss, both in its syndromic and non-syndromic forms, is the most common sensory disorder, with more than 460 million people affected worldwide. It has been shown that at least 50% of congenital or childhood hearing loss cases are attributable to genetic causes, leading so-called hereditary loss. The correct counselling molecular diagnosis particularly tricky, since they characterised by a substantial clinical heterogeneity, partly not yet discovered. In this light, constant analysis...
The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect most common aneuploidies during pregnancy. extensive use NIPT, as a method, has highlighted limits technique, including false positive and negative results. Feto-placental mosaicism challenging biological issue frequent cause results NIPT screening, discrepancy between invasive We are reporting on two cases feto-placental trisomy 21, both...