Publications by authors named "R Fakih"
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hematol Oncol Stem Cell Ther
October 2024
H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term "H syndrome" includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human equilibrative transporter 3 present in endosomes, lysosomes, and mitochondria.
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- Autologous peripheral blood stem cell (PBSC) transplantation is a common treatment for conditions like multiple myeloma and lymphomas, and it usually involves freezing the stem cells before transplant.* -
- A recent systematic review of 19 transplant centers that performed non-cryopreserved PBSC transplants showed that the procedure is feasible and safe, with high stem cell viability and low rates of complications.* -
- The study found that stem cell viability was over 90% for multiple myeloma and over 75% for lymphomas, with quick engraftment times, and only 1% transplant-related mortality within 100 days.*
Article Synopsis
- Mutations in parkin and PINK1 lead to early-onset Parkinson's disease by impairing the process of removing damaged mitochondria, where parkin is activated by PINK1 to ubiquitinate and target these organelles for degradation.* -
- Researchers discovered a new class of small molecules that enhance parkin's activity by acting as molecular glues, which improve the interaction between phospho-ubiquitin and parkin.* -
- The most effective compound, BIO-2007817, has been shown to partially restore parkin activity in specific EOPD mutants, suggesting potential therapeutic applications for treating Parkinson's disease.*
Purpose Of Review: This review aims to detail the characteristics and outcomes of duodenal-type follicular lymphoma (DTFL), a rare lymphoma variant. It focuses on integrating recent reports in treatment modalities and highlights emerging insights into the unique biological features of the disease.
Recent Finding: Recent studies confirm the indolent nature of DTFL, with extended follow-up periods showing favorable outcomes under watchful waiting strategies and a notable proportion of patients experiencing spontaneous remission.
Minimal residual disease testing for classical Hodgkin lymphoma: A comprehensive review.
Crit Rev Oncol Hematol
December 2024
Classical Hodgkin lymphoma (cHL) is a common lymphoma that affects young patients. Fortunately, the disease is highly curable as it is susceptible to the currently available treatment modalities. Disease monitoring with Positron Emission Tomography and Computed Tomography (PET/ CT) is an integral part of managing these patients.
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