Results 61 to 70 of about 45,095 (307)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

A prospective clinico-hematological study in 100 cases of pancytopenia in capital city of India

open access: yesJournal of Applied Hematology, 2014
Context: Pancytopenia is not a disease but a clinico-hematological entity encountered in clinical practice. A prompt intervention is required to avoid complications, which can occur in these patients.
Sweta   +3 more
doaj   +1 more source

A single-center cross-sectional study on the clinical profile of pancytopenia and a novel scoring system for megaloblastic anemia

open access: yesApollo Medicine, 2022
Background: Our study tries to identify the main culprits causing pancytopenia and its typical clinical presentation, along with the clinical and hematological profile of megaloblastic anemia (MGA)-induced pancytopenia, in a tertiary care hospital in ...
Sanjaykumar Somsingbhai Rathwa   +3 more
doaj   +1 more source

p53 mediates failure of human definitive hematopoiesis in dyskeratosis congenita [PDF]

open access: yes, 2017
Summary: Dyskeratosis congenita (DC) is a bone marrow failure syndrome associated with telomere dysfunction. The progression and molecular determinants of hematopoietic failure in DC remain poorly understood.
Batista, Luis Francisco Zirnberger   +5 more
core   +3 more sources

Voclosporin‐induced gingival enlargement: A case report

open access: yesClinical Advances in Periodontics, EarlyView.
Abstract Background Drug‐influenced gingival enlargement (DIGE) is a recognized adverse effect of certain medications, particularly immunosuppressants like cyclosporin and tacrolimus. However, there have been no documented cases of DIGE associated with voclosporin, a newer calcineurin inhibitor used primarily to treat lupus nephritis.
Francesca Racca   +2 more
wiley   +1 more source

Tolerability and efficacy of chemosaturation in combination with systemic therapy for metastatic uveal melanoma

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Uveal melanoma is the most common primary intraocular cancer in adults, and up to half of patients develop metastatic disease, predominantly in the liver, where prognosis remains poor despite promising treatment options. In this study, the authors evaluated the safety and efficacy of administering systemic therapy within 40 days of liver ...
Patrick Kasteleiner   +4 more
wiley   +1 more source

Clinicoetiological profile of children with bicytopenia and pancytopenia

open access: yesPediatric Hematology Oncology Journal, 2023
Background: Bicytopenia, and pancytopenia have a wide etiological spectrum in children, ranging from viral infections to malignancies. There is limited data describing the clinicoetiological profile of bicytopenia and pancytopenia in children in recent ...
Arunendr Sharma   +2 more
doaj   +1 more source

MUDDLED PANCYTOPENIA

open access: yesIndian Journal of Case Reports, 2022
Pancytopenia, always remains a challenge for its detailed diagnostics evaluation, ranging from Megaloblastic Anemia to  Marrow aplasia and leukemias. Here, we report the case scenario of a 70 year old male who presented with pancytopenia and his elaborated diagnostics approach, concluding the diagnosis of myelofibrosis with positive W515L.
K. Umakanthan, Juhi Riaz, Mohana Sundari
openaire   +2 more sources

Reversible gelatinous transformation of bone marrow – A rare and reversible cause of pancytopenia in tuberculosis

open access: yesIraqi Journal of Hematology, 2023
A 68-year-old man presented with a low-grade fever for one month. He had loss of appetite and had lost 6 kilograms of weight in the last two months. He was evaluated and found to have miliary tuberculosis with pancytopenia.
Mansoor C Abdulla
doaj   +1 more source

Exportin 1 Inhibitor Combined With Venetoclax Induces Apoptosis in Myelodysplastic Syndrome by Mitochondria‐Induced Apoptosis Pathway

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Inhibition of XPO1 is a promising modality in the treatment of MDS, especially when combined with Venetoclax, which activates mitochondria‐mediated apoptosis and could be a potential target for MDS therapy. ABSTRACT Background Myelodysplastic syndromes (MDS) are clonal hematopoietic malignancies that pose a serious health threat.
Xiaohan Liu   +8 more
wiley   +1 more source

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