9 резултати
Atmış B, Kışla-Ekinci RM, Melek E, Bişgin A, Yılmaz M, Anarat A, Karabay-Bayazıt A. Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent. Turk J Pediatr 2019; 61: 444-448. Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic
BACKGROUND
We present the first case of Morvan's syndrome (MoS) and myasthenia gravis (MG) related to familial Mediterranean fever (FMF) gene mutations.
METHODS
A 40-year-old woman with a 1-year history of bilateral ptosis and limb muscle weakness presented to our hospital. She also had memory
We report a case that has Gitelman syndrome (GS) and familial Mediterranean fever (FMF) presenting with recurrent arthritis of right knee and heel pain. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of heterozygous E148Q
A patient with familial Mediterranean fever (FMF) associated with renal amyloidosis, presented with hyperkalemia and acidosis which were excessive to his moderate degree of azotemia. The cause of this abnormality was isolated hypoaldosteronism with otherwise normal adrenal function and tubular
The renin-aldosterone system and plasma insulin were studied in 19 patients with familial Mediterranean fever (FMF). Their relationships to serum potassium level at rest and before and after oral glucose loading are described. An interesting finding is the occurrence of hyperkalemia in the absence
Alterations in affinity of amyloid for Congo red after incubation of tissue sections with potassium permanganate, as described by Wright el al, were studied. The affinity of amyloid for Congo red after incubation with potassium permanganate did not change in patients with myeloma-associated
We examined the amyloid deposits of lattice dystrophy type I for common components of primary and secondary amyloid using the sensitive unlabelled antibody peroxidase-antiperoxidase technique. Tissue sections of formalin-fixed, paraffin-embedded specimens from three patients with lattice dystrophy
In this paper, the findings of immunofluorescence (IF) studies of 57 patients with childhood biopsy-proven renal amyloidosis are presented. All specimens were investigated by the direct IF technique and the simultaneous use of antisera to human IgG, IgM, IgA, fibrinogen and C3. Antisera to C1q, C4,
OBJECTIVE
To compare the nutritional intake of patients with acute and chronic spinal cord injury (SCI).
METHODS
Cross-sectional, observational study.
METHODS
Spinal cord unit.
METHODS
Twelve in-house patients of a spinal cord unit with acute SCI and paralysis duration of 5.3 ± 2.5 months (acute