Results 1 to 10 of about 12,991 (277)

Illness perceptions of leprosy-cured individuals in Surinam with residual disfigurements – “I am cured, but still I am ill” [PDF]

open access: yes, 2016
Objective Leprosy has rarely been the subject of health psychology research despite its substantial impact. Our aim was to explore illness perceptions in patients and their health care providers in Surinam.
Kaptein, Ad A.   +4 more
core   +1 more source

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

open access: yesIranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources

Epstein Syndrome

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2020
Epstein syndrome is characterized by sensorineural hearing impairment, macro- thrombocytopenia without neutrophil inclusion bodies, and hereditary nephritis which can progress to end-stage renal disease (ESRD) in adolescence.
Sana Barrah   +9 more
doaj   +1 more source

Complement C3 variant and the risk of age-related macular degeneration [PDF]

open access: yes, 2007
Background: Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors.
Armbrecht, AM   +16 more
core   +1 more source

IgA-nephropathy in systemic diseases, persistent infections, chronic liver diseases: literature review

open access: yesЛечащий Врач, 2021
The review discusses peculiarities of secondary IgA-nephropathy, complicating Henoch–Schonlein purpura,spondyloarthropathies, gluten enteropathy HCV infections, AIDS, liver cirrhosis, hereditary nephritis.
A. Yu. Nikolaev, A. V. Malkoch
doaj  

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis [PDF]

open access: yes, 2005
12openopenGregorini G; Izzi C; Obici L; Tardanico R; Röcken C; Viola BF; Capistrano M; Donadei S; Biasi L; Scalvini T; Merlini G; Scolari F.Gregorini, G; Izzi, C; Obici, L; Tardanico, R; Röcken, C; Viola, Bf; Capistrano, M; Donadei, S; Biasi, L; Scalvini,
BIASI, LUIGI   +11 more
core   +1 more source

MARKERS LEVEL OF ENDOTHELIAL DYSFUNCTION (ENDOTELIN-1 AND NITROGEN OXIDE) IN BLOOD SYROVISTS AND ALBUMINURIA IN CHILDREN WITH ERYTHROCYTURIA

open access: yesУкраїнський Журнал Нефрології та Діалізу, 2017
The aim of our study was to investigate the levels of endothelin-1 and aside nitrogen in the serum of children with kidney diseases that clinically present with hematuria syndrome.
V. Minakova
doaj   +1 more source

Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene

open access: yesStem Cell Research, 2020
X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c.
Lei Sun   +5 more
doaj   +1 more source

A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype [PDF]

open access: yes, 2016
Apolipoprotein A-I (apo A-I) amyloidosis is a non-AL, non-AA, and non-transthyretin type of amyloidosis associated with mutations in the APOA1 gene inherited in an autosomal dominant fashion. It is a form of systemic amyloidosis, but at presentation, can
Birn, H   +6 more
core   +1 more source

Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia [PDF]

open access: yesVojnosanitetski Pregled, 2014
Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and ...
Kuzmanović Miloš   +5 more
doaj   +1 more source

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