Anti‐PD‐1 antibodies in metastatic uveal melanoma: a treatment option?
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Medicine"
DOI: 10.1002/cam4.887
Abstract: Uveal melanomas (UMs) are a rare form of cancer with clinical and pathological characteristics distinct from cutaneous melanomas. Ipilimumab has shown efficacy and safety in the treatment of metastatic UM. This provides a rationale for… read more here.
Keywords: antibodies metastatic; treatment; disease; tumor assessment ... See more keywords
Use of Osteochondral and Meniscal Allografts from Bone Cuts of Total Knee Arthroplasty for the Treatment of Tibial Plateau Malunions: A Case Series of Four Patients Showing Early Results.
Sign Up to like & getrecommendations! Published in 2021 at "Indian journal of orthopaedics"
DOI: 10.1007/s43465-020-00347-5
Abstract: Purpose Intra-articular malunion of tibial plateau fracture is a complex problem to treat. We are presenting outcomes of our series of patients of malunited tibial plateau fractures treated with osteo-chondro-meniscal allograft from lateral tibial plateau… read more here.
Keywords: tibial plateau; plateau; plateau malunions; knee arthroplasty ... See more keywords
Endotheliitis in Coronavirus Disease 2019–Positive Patients After Extremity Amputation for Acute Thrombotic Events
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Vascular Surgery"
DOI: 10.1016/j.avsg.2020.12.004
Abstract: Introduction Both arterial and venous thrombotic events of the extremities occur in COVID-19 infection, but the etiology of these events remains unclear. This study sought to evaluate pathology specimens of COVID-19 positive patients post-amputation, who… read more here.
Keywords: amputation; thrombotic events; positive patients; disease ... See more keywords
Fat burner-induced acute liver injury: Case series of four patients.
Sign Up to like & getrecommendations! Published in 2018 at "Nutrition"
DOI: 10.1016/j.nut.2017.10.002
Abstract: Dietary supplements known as "fat burners" are typically marketed with claims of increasing energy expenditure through alterations in fat metabolism. They are marketed as natural products and their use is thus perceived as a safe… read more here.
Keywords: acute liver; fat burner; liver injury; injury ... See more keywords
Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.102087
Abstract: Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts… read more here.
Keywords: beuren syndrome; deletion; stem; four patients ... See more keywords
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000487
Abstract: Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused… read more here.
Keywords: four patients; recurrent variants; novel recurrent; ocular phenotypes ... See more keywords
Clinical and genetic features of four patients with Pearson syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028793
Abstract: Abstract Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson syndrome is a sporadic disease that affects the hematopoietic system, pancreas, eyes, liver, and heart and the prognosis is… read more here.
Keywords: clinical genetic; pearson syndrome; four patients; patients pearson ... See more keywords
Daratumumab with ifosfamide, carboplatin and etoposide for the treatment of relapsed plasmablastic lymphoma
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18228
Abstract: cell neoplasms. Bortezomib, a proteasome inhibitor initially used in multiple myeloma, has been combined with chemotherapy and shown to be effective in frontline PBL. 5 In the relapsed setting, PBL treatment is even more difficult… read more here.
Keywords: daratumumab; ifosfamide carboplatin; daratumumab ifosfamide; four patients ... See more keywords
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14672
Abstract: SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic POC1A variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic POC1A variants have been reported in 26 families.… read more here.
Keywords: biallelic poc1a; review; spectrum; four patients ... See more keywords
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106132
Abstract: Background Ambroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX and enzyme replacement therapy (ERT)… read more here.
Keywords: gaucher disease; dose abx; high dose; day ... See more keywords
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0560-6
Abstract: BackgroundGlycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different… read more here.
Keywords: disease type; iiia; iiia china; storage disease ... See more keywords