Publications by authors named "A Arghir"
Acute myeloid leukemia (AML) is a form of cancer originating from precursor cells within the bone marrow. Elderly patients with acute leukemia require a personalized approach, considering age, performance status, and comorbidities, to determine suitability for intensive treatment. We studied the results of intense chemotherapy in 46 elderly, fit individuals with AML at a cancer center in Romania from January 2017 to December 2023.
View Article and Find Full Text PDFAutism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication and restrictive, repetitive behaviors and interests. ASDs form a heterogeneous group from a clinical and genetic perspective. Currently, ASDs diagnosis is based on the clinical observation of the individual's behavior.
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- * A case was reported involving a child from a nonconsanguineous family with significant developmental delays, severe seizures, and brain abnormalities, found to have two harmful variants in the CCDC88A gene.
- * The findings highlight the need for genetic screening for CCDC88A variants due to shared clinical features and brain malformations seen in affected individuals, pointing to consistent phenotypes.
Orofaciodigital syndrome I (OFD1-MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein (), is involved in primary cilia formation and several cilia-independent biological processes.
View Article and Find Full Text PDFAutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by communication and social interaction deficits, and by restricted interests and stereotyped, repetitive behavior patterns. ASD has a strong genetic component and a complex architecture characterized by the interplay of rare and common genetic variants. Recently, increasing evidence suggest a significant contribution of immune system dysregulation in ASD.
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