Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
europepmc +2 more sources
Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc +2 more sources
Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report. [PDF]
Clin Case RepSagittal US scans of the left (A) and right (B) kidneys at 21 weeks and 6 days of gestation showing bilateral hyperechogenic nondifferentiated kidneys of normal size. Key Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content.
Aigbogun OP +6 more
europepmc +2 more sources
Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report. [PDF]
Clin Case RepKey Clinical Message Unilateral renal mucormycosis is a rare infection that should be suspected in patients with recurrent renal infections presenting nonspecific clinical features that do not respond to conventional therapies, especially in impaired immune systems due to related risk factors.
Darouei B +3 more
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Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]
, 2019 Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena +4 more
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Potential diagnostic assay for cystinuria by capillary electrophoresis coupled to mass spectrometry [PDF]
, 2013 Cystinuria is an autosomal recessive genetic disorder characterized by abnormal intestinal and renal tubular transport of L-cystine as well as of L-lysine, L-arginine and L-ornithine.
Assunção, Nilson Antonio +3 more
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Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale? [PDF]
, 2014 International audienceWith an incidence of 1:7000 births, cystinuria, the most frequent cause of stone formation among genetic diseases, represents a major medical problem.
Dominique Bazin +5 more
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Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group [PDF]
, 2015 OBJECTIVE: Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for ...
Bianchi, G +31 more
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Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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Risks Associated with Drug Treatments for Kidney Stones [PDF]
, 2015 Introduction: Renal stones are one of the most painful medical conditions patients experience. For many they are also a recurrent problem. Fortunately, there are a number of drug therapies available to treat symptoms as well as prevent future stone ...
Borofsky, Michael S. +2 more
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