Searching for Biomarkers in Proliferative Diabetic Retinopathy: Amphiregulin and Progranulin.

Objective: Diabetic retinopathy is a common diabetic microvascular problem. Its diagnosis and classification are based on visible changes in clinical fundus examination. However, the discovery of possible vitreous biomarkers in patients with proliferative and nonproliferative diabetic retinopathy may guide both the differentiation and degree of retinopathy. Biomarkers that will be accepted can be also a treatment target. Amphiregulin (AREG) promotes proliferative and regenerative activity and repairs most cell types by binding and activating epidermal growth factor receptors. Progranulin (PGRN) has complex functions in many physiological and pathological processes. Thus, this study aimed to report vitreous AREG and PGRN levels in patients with diabetes and proliferative retinopathy and compare the results with those without diabetes. Methods: Thirty-three eyes of 33 patients with proliferative diabetic retinopathy and 31 eyes of 31 patients without diabetes were included in this study. Vitreous humor samples were collected from all patients at the time of pars plana vitrectomy surgery immediately before the surgical procedure. Vitreous AREG and PGRN values were determined by the ELISA method. Results: The mean AREG and PGRN values were similar in the groups (p=0.427, p=0.459, respectively). Conclusions: The results demonstrated that vitreous AREG and PGRN levels have no significant relationship with proliferative diabetic retinopathy.

A Rare Catheter Complication in a Patient With Neuroblastoma: Horner's Syndrome.

Neuroblastoma is the most common type of extracranial solid tumor during childhood. Clinical presentation includes ipsilateral ptosis, myosis, anhydrosis and enophthalmos. The case of a 2.5-year-old boy who had a complaint of constriction of the left pupil for 3 days is presented. In the physical examination, the pupil of the OD was moderately dilated; there was myosis on the OS and ptosis on the left eyelid. Horner syndrome was considered due to these findings. History of the patient revealed that a central venous catheter insertion procedure was tried from the left side.

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene. The report of the mutation brings the total number of HOXB1 mutations identified in HCFP to four. The results of this study emphasize that in individuals with congenital facial palsy accompanied by hearing loss and dysmorphic facial features, HOXB1 mutation causing HCFP should be kept in mind.