ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio +19 more
wiley +1 more source
Immune Reconstitution After Total Parathyroidectomy and Forearm Transplantation in Chronic Renal Failure. [PDF]
Ren T +7 more
europepmc +1 more source
ABSTRACT High dose melphalan (HDM) with autologous stem cell transplant is an established treatment for systemic light chain amyloidosis, but its incremental benefit in the era of effective standard intensity therapy is unknown. We retrospectively analyzed 475 transplant‐eligible patients who completed standard intensity treatment with or without HDM ...
Maximilian J. Steinhardt +23 more
wiley +1 more source
Plasma brain-derived neurotrophic factor before hemodialysis reduces the risk of depression in patients with chronic renal failure. [PDF]
Suárez-Cuenca JA +13 more
europepmc +1 more source
Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain +10 more
wiley +1 more source
Unveiling the material basis of Shenshuaifu granule and its therapeutic mechanism in chronic renal failure: a combined approach of high-resolution mass spectrometry and <i>in silico</i> technology. [PDF]
Huang Q +8 more
europepmc +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Effect of intensive water-salt diet nursing intervention on blood pressure and volume load in patients with chronic renal failure. [PDF]
Wu L +6 more
europepmc +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Tumoral calcinosis in chronic renal failure: A case report and literature review. [PDF]
Andriandi, Husnul F, Tirta C.
europepmc +1 more source

