Publications by authors named "A Avdic"
Article Synopsis
- This study presents a new technique for placing Crawford bicanalicular stents in children to treat congenital nasolacrimal duct obstruction, which simplifies in-office removal.
- It evaluated the outcomes of 54 patients aged 5 and under who underwent this procedure between 2004 and 2020, focusing on various metrics like extrusion and recurrence rates.
- Results indicated a 30.3% extrusion rate and low recurrence (5.4%) and operative room removal rates (3.6%), showing the method's effectiveness compared to other existing techniques.
Background: Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation.
Case Presentation: A three-year-old male was discovered to have nanophthalmos after first presenting to the emergency department for a frontal headache, eye pain, emesis, and lethargy.
Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages.
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- LADD syndrome is an autosomal dominant disorder characterized by multiple congenital anomalies, particularly affecting the lacrimal and salivary systems, leading to symptoms like dry mouth and abnormal tearing.
- Whole exome sequencing was performed on a patient with LADD syndrome, glaucoma, and thin corneal thickness, initially checking for known mutations and then analyzing additional candidate genes.
- The study identified a novel mutation (Arg343Trp) in the TP63 gene, which is believed to be pathogenic due to its absence in public databases and structural analysis indicating significant alteration in its DNA binding domain.