Results 191 to 200 of about 132,601 (358)
Syphilitic Hepatomegaly and Splenomegaly [PDF]
, 1933 L. P. E. Laurent, J. W. McNeee
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Clinical Genetics, EarlyView.We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix +3 more
wiley +1 more source
Clinical Genetics, EarlyView.We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD‐related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.
Pedro Gabriel Dotto +4 more
wiley +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
Transmissible Splenomegaly of Fowls or Reticulo-Endothelial Leucosis (“Erythroleucosis”) [PDF]
, 1937 H. P. Bayon
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Journal of Cutaneous Pathology, EarlyView.ABSTRACT Langerhans cell sarcoma (LCS) is a rare neoplastic proliferation of Langerhans cell with aggressive clinical behavior and involves multiple organ systems, including the skin. LCS is characterized by marked cytologic atypia, frequent mitoses including atypical ones, and expression of CD1a, S100, and langerin (CD207).
Randa Obid +8 more
wiley +1 more source
Hepatosplenomegaly and Pernicious Anaemia [PDF]
Journal of Clinical and Diagnostic Research, 2014 Turgay Ulas +4 more
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.In children with symptomatic congential CMV, those with polymicrogyria are at an increased risk of developing epilepsy. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16263 Abstract Aim To identify neonatal magnetic resonance imaging (MRI) features that predict the likelihood of children with congenital cytomegalovirus (cCMV ...
George Lawson +7 more
wiley +1 more source
The impact of immature granulocytes on the outcome of patients with decompensated cirrhosis
European Journal of Clinical Investigation, EarlyView.Immature granulocyte (IG) count and percentage had a predictive role in patients with decompensated cirrhosis, making them an objective and easily available marker of prognosis for this group of patients. In addition, IG percentage was the only factor independently associated with transplant‐free survival.
Magdalini Adamantou +10 more
wiley +1 more source