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1.
Cureus ; 15(3): e36612, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37102037

RESUMEN

Ignatzschineria larvae (I. larvae) is a bacterium found in the digestive tract of some flies. A few cases of bacteremia by I. larvae are described in the literature. We present the case of a patient with chronic leg ulcer and poor hygienic and social conditions, who presented with bacteremia from I. larvae. As there are few cases described in the literature, there are no guidelines yet for the treatment of this bacteremia. We report a short review of the literature below.

2.
Dig Liver Dis ; 53(3): 329-344, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33390354

RESUMEN

BACKGROUND: Heterozygous ABCB4 variants are not routinely tested in adults with cholestasis because of their supposed rarity and high costs. METHODS: Nineteen adult patients presenting with unexplained cholestasis, and/or recurrent gallstones were included; genotyping was not done in five due to lack of health insurance approval. RESULTS: heterozygous ABCB4 variants were identified in seven patients, followed by cascade testing of 12 family members: one patient underwent liver transplantation at age 40 for end-stage liver disease; one had compensated cirrhosis; all symptomatic adults had gallstones, including four with low phospholipid-associated cholelithiasis; four had intrahepatic cholestasis of pregnancy; all children and one 54-year old female were asymptomatic. Genotype: Families A and C: c.2211G>A (p.Ala737=) combined with c.959C>T (p.Ser320Phe) in one subject; Family B: c.1130T>C (p.Ile377Thr); Family D: large deletion removing ABCB4 exons 1-4 plus ABCB1, RUNDC3B, SLC25A40, DBF4, ADAM22 exons 1-3; Family E: c.1565T>C (p.Phe522Ser) ; Family F: c.1356+2T>C combined with c.217C>G (p.Leu73Val). All patients responded to ursodeoxycholic acid. CONCLUSIONS: We found ABCB4 variants in half of the adults with unexplained cholestasis and/or recurrent gallstones presenting at our center, suggesting that this condition is underdiagnosed and undertreated, with serious consequences not only for the patients and their families, but also in terms of healthcare costs.


Asunto(s)
Subfamilia B de Transportador de Casetes de Unión a ATP , Colestasis/genética , Variación Genética , Adulto , Colestasis/patología , Diagnóstico Tardío , Progresión de la Enfermedad , Genotipo , Humanos , Persona de Mediana Edad
3.
Eur J Case Rep Intern Med ; 6(8): 001187, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31508383

RESUMEN

Intratympanic gentamicin therapy is a useful alternative treatment for refractory Meniere's disease and is generally well tolerated. Visual disturbances as side effects of this treatment are rarely reported in the literature. In this report we describe the case of a 52-year-old woman with refractory Meniere's disease who developed binocular vertical diplopia following intratympanic gentamicin therapy. Spontaneous resolution of diplopia occurred within 2 weeks. The development of diplopia should be discussed as a potential complication with patients undergoing intratympanic gentamicin therapy. LEARNING POINTS: Meniere's disease is an inner ear disorder which can cause vertigo and hearing loss.As medical treatment sometimes fails, other therapeutic options should be considered.Gentamycin chemical labyrinthectomy can be administered as an alternative treatment, but the development of diplopia should be discussed as a potential side effect.

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