Publications by authors named "L J Graziani"
WDFY3 (MIM#617485) defects may manifest neurodevelopmental disorders (NDDs) and opposite effects on brain size based on allelic effect. This case highlights a heterozygous WDFY3 nonsense variant linked to mild-to-moderate NDDs, macrocephaly, and unique facial features. Findings emphasize the importance of exome sequencing in NDDs for accurate diagnosis and clinical management.
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- - Kallmann syndrome (KS) is a genetic disorder characterized by low reproductive hormone levels and loss of smell, caused by issues in the early development of certain neurons that regulate these functions, with some links to Waardenburg syndrome.
- - A case study of a 28-year-old woman with a lifelong KS diagnosis revealed hearing loss and skin pigmentation issues, and genetic testing identified a specific pathogenic variant that was also present in her mother, who displayed fewer symptoms.
- - The findings emphasize the diverse expressions of KS and related conditions, indicating that patients may show a wide range of symptoms and suggesting the importance of ongoing monitoring for potential additional traits.
Article Synopsis
- - Cefiderocol, a new antibiotic, is effective against carbapenem-resistant Gram-negative bacteria but lacks real-world usage data concerning therapy types and patient demographics.
- - A study of 200 cases found that cefiderocol was primarily used as targeted therapy (72.5%) rather than empirical (27.5%) and was administered equally as monotherapy (50.5%) and in combination (49.5%).
- - The findings highlight that specific patient histories, like previous infections and conditions, influence the choice between monotherapy and combination therapy, emphasizing the need for better guidelines and further studies on treatment efficacy.
The management of severe/prolonged SARS-CoV-2 infections in immunocompromised hosts is still challenging. We describe nine patients with hematologic malignancies with a history of unsuccessful SARS-CoV-2 treatment receiving antiviral combination treatment for persistent infection at a tertiary hospital in central Italy (University Hospital of Careggi, Florence). Combination treatments consisted of nirmatrelvir/ritonavir plus molnupiravir ( = 4), nirmatrelvir/ritonavir plus remdesivir ( = 4) or remdesivir plus molnupiravir ( = 1) for 10 days, in some cases associated with sotrovimab.
View Article and Find Full Text PDFAlport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by , , and pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD) with extrarenal abnormalities. Atypical presentation of the disorder is possible, and it can mislead the diagnosis.
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