Results 51 to 60 of about 792,259 (266)

Hyperdiploid karyotype and trisomy 21 in Hypoplastic MDS with treatment response to haematinics; a case study from Pakistan

open access: yesHaematology Journal of Bangladesh
The hypoplastic Myelodysplastic syndromes (h-MDS) present a diagnostic challenge as they have morphological and clinical features of both MDS and aplastic anaemia. About 10% of MDS cases have bone marrow hypocellular for age.
Aisha Arshad, Jawad Hassan, Nida Anwar
doaj   +1 more source

Misperception of Body Weight After Childhood Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Misperception of body weight can negatively impact the weight management efforts of childhood cancer survivors (CCSs). Both being overweight or underweight are associated with chronic health conditions commonly observed in CCS; therefore, accurate weight perception is critical for reducing long‐term health risks.
Fabiën N. Belle   +8 more
wiley   +1 more source

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers

open access: yesFrontiers in Endocrinology
ObjectiveCLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis.
Xi Chen   +9 more
doaj   +1 more source

An Unusual Stress Fracture in an Archer with Hypophosphatasia

open access: yesCase Reports in Orthopedics, 2013
We report a 45-year-old male archer with stress fracture in his left ulna on the background of adult type of hypophosphatasia. The patient presented to several medical centers for pain around the left elbow and received medical treatment upon diagnosis ...
Umut Yavuz   +6 more
doaj   +1 more source

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

open access: yesBMC Medical Genomics, 2023
Background Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormalities.
Yazhao Mei   +3 more
doaj   +1 more source

Hyperparathyroid bone disease [PDF]

open access: yesClinical Kidney Journal, 2013
A 52-year-old haemodialysis patient developed normochromic normocytic anaemia requiring weekly blood transfusions. He was resistant to high-dose epoetin alfa and intravenous iron therapy. A blood film examination revealed tear-drop poikilocytes. Serum B12, red cell folate, iron studies, serum protein electrophoresis, serum-free light-chain assay and ...
Nigam, Amit, Kan, George, Morris, Edward
openaire   +2 more sources

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver   +25 more
wiley   +1 more source

Impact of Metastatic Patterns on Survival and Response to Therapy in Neuroblastoma

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background While the presence of metastases in neuroblastoma (NB) is a well‐established prognostic factor, the clinical significance of dissemination patterns and tumour burden and their impact on response and survival remains poorly understood.
Mariona Morell‐Daniel   +15 more
wiley   +1 more source

Bone matrix components activate the NLRP3 inflammasome and promote osteoclast differentiation

open access: yesScientific Reports, 2017
The NLRP3 inflammasome senses a variety of signals referred to as danger associated molecular patterns (DAMPs), including those triggered by crystalline particulates or degradation products of extracellular matrix. Since some DAMPs confer tissue-specific
Yael Alippe   +9 more
doaj   +1 more source

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean   +7 more
wiley   +1 more source

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