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Rapidly progressive glomerulonephritis as an unusual type of renal involvement in sarcoidosis: a case report.
J Med Case Rep
January 2025
Transplant-Nephrology Department, Transplantation Center, University Hospital Martin, Kollarova 2, 03601, Martin, Slovakia.
Introduction: Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the formation of noncaseating epithelioid granulomas. Clinically significant renal involvement is rare in sarcoidosis. It most commonly manifests as chronic tubulointerstitial nephritis and nephrocalcinosis with nephrolithiasis.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFA Rare Case of Locally Acquired Malaria in Lebanon: A Public Health Concern.
Cureus
December 2024
Clinical Pathology and Laboratory Department, Bekaa Hospital, Bekaa, LBN.
Malaria, a mosquito-borne disease caused by five plasmodium species, still has a life-threatening risk worldwide. Clinical manifestations can range from mild nonspecific symptoms to severe disease. In non-endemic regions, sporadic cases frequently pose significant challenges to health workers as delayed diagnosis can lead to serious consequences and even death.
View Article and Find Full Text PDFA novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Nephrol Dial Transplant
January 2025
Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFComplex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report.
Cureus
December 2024
Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
A significantly diverse clinical presentation of amyotrophic lateral sclerosis (ALS), even in its best-studied familial form, continues to hinder current efforts to develop effective disease-modifying drugs for the cure of this rapidly progressive, fatal neuromuscular disease. We have previously shown that clinical heterogeneity of sporadic ALS (sALS) could be explained, at least in part, by its polygenic nature as well as by the presence of mutated genes linked to non-ALS neurological diseases and genes known to mediate ALS-related pathologies. We hypothesized that a similar genetic framework could also be present in patients with familial ALS (fALS).
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