Publications by authors named "A Miko"

Background: Acute pancreatitis (AP) is a major health threat, with a high mortality rate in severe forms. Though alcohol and bile-induced factors are the most common causes, increasing evidence suggests that viral infections such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and human immunodeficiency virus (HIV) may also trigger AP development. Our study aims to explore this association in greater detail.

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Background: Combining antegrade stenting (AGS) and hepaticogastrostomy (HGS) is an increasingly used endoscopic ultrasound-guided intervention when stenting by endoscopic retrograde cholangiopancreatography is impossible.

Objectives: We comprehensively assessed the benefits and downsides of combined AGS and HGS (HGS procedure with AGS, HGAS).

Data Sources And Methods: From 788 HGS and 295 HGAS cases, a random-effects meta-analysis was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol.

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Hereditary breast and ovarian cancer is a well-known genetic condition, inherited mainly in an autosomal dominant way, which elevates the risk of developing malignancies at a young age in heterozygous carriers. Advances in new generation sequencing have enabled medical professionals to determine whether a patient is harbouring mutations in moderate- or high penetrance susceptibility genes. We conducted a retrospective analysis among 275 patients who underwent genetic counselling and multigene panel testing for hereditary breast and ovarian cancer syndrome in our department.

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Heterozygous mutations in the gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as "intellectual developmental disorder with language impairment with or without autistic features" (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous variant, namely, a four-year-old boy and 14-month-old girl.

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