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A Clinico-Genetic Score Incorporating Disease-Free Intervals and Chromosome 8q Copy Numbers: A Novel Prognostic Marker for Recurrence and Survival Following Liver Resection in Patients with Liver Metastases of Uveal Melanoma.
Cancers (Basel)
October 2024
Department of Radiology, Institut Curie, PSL Research University, 75005 Paris, France.
Surgical treatment of liver metastases of uveal melanoma (LMUM) could be proposed for selected patients. This retrospective study examined the prognostic significance of the genetic profiles of liver metastases after LMUM resection. A total of 86 patients treated with resection for LMUM, who underwent genetic analysis of liver metastasis, were included.
View Article and Find Full Text PDFGenetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation.
Parkinsonism Relat Disord
December 2024
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. Electronic address:
Article Synopsis
- Advances in genetic testing have revealed that many cases of early onset Parkinson disease (EOPD) have genetic causes, either through specific genes with single-gene inheritance or risk factor genes that increase susceptibility.
- The genetic complexity of EOPD presents challenges, as variations in the same gene can cause a wide range of symptoms, and different genes can lead to similar symptoms, complicating diagnosis and treatment.
- This review aims to explore the relationship between specific PARK genes and EOPD, detailing how these genetic factors influence clinical symptoms, underlying mechanisms, investigation outcomes, and responses to treatment options.
Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India.
Dement Geriatr Cogn Dis Extra
March 2024
Department of Neurology, National Institute of Mental Health, and Neurosciences (NIMHANS), Bengaluru, India.
Introduction: Microglia exert a crucial role in homeostasis of white matter integrity, and several studies highlight the role of microglial dysfunctions in neurodegeneration. Primary microgliopathy is a disorder where the pathogenic abnormality of the microglia causes white matter disorder and leads to a neuropsychiatric disease. Triggering receptor expressed on myeloid cells (), TYRO protein tyrosine kinase binding protein () and colony-stimulating factor 1 receptor () are genes implicated in primary microgliopathy.
View Article and Find Full Text PDFHemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome.
Expert Rev Hematol
May 2024
Pediatric Hematology and Oncology, Children's Hospital, Ain Shams University, Cairo, Egypt.
Article Synopsis
- Hemophagocytic lymphohistiocytosis (HLH) is an immune activation disorder in children that can be either genetically inherited or caused by other illnesses; this study focused on Egyptian children to explore these aspects.
- A total of 55 patients were reviewed, with a significant portion presenting genetic forms of HLH, while others had secondary HLH linked to other conditions; 40 of the patients unfortunately died within an average of 5 months post-diagnosis.
- The study highlights the challenges of diagnosing HLH due to its nonspecific symptoms, the importance of genetic testing, and issues like finding suitable stem cell donors that contribute to poor patient outcomes.
Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.
Brain Commun
February 2024
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Mitochondrial myopathies are frequently recognized in childhood as part of a broader multisystem disorder and often overlooked in adulthood. Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies diagnosed in adulthood, focusing on neuromuscular features, electrodiagnostic and myopathological findings and survival. We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005-21).
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