Publications by authors named "F F Comisi"
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.
Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.
Tuberculosis (TB) remains a significant global health challenge, particularly within pediatric populations. This article reports the case of a 7-year-old female patient admitted with massive fibrinous pleural effusion secondary to TB, highlighting the key role of ultrasound in disease monitoring and therapeutic guidance. The patient presented with fever, cough, and abdominal pain.
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- Ultrasound (US) is becoming a key non-invasive imaging tool for diagnosing lung diseases in newborns, offering high-quality images without harmful radiation.
- The study discusses how thoracic ultrasound helps assess lung conditions, including analyzing pleural structures and checking for issues like pneumothorax and respiratory distress syndrome through specific ultrasound findings.
- It highlights the growing role of lung ultrasound in neonatal care by improving diagnostics, predicting intensive care needs, and reducing the need for X-rays, enhancing overall patient management from birth.