Andra Caragheorgheopol

Andra Caragheorgheopol

Association of rs 10038177 and rs 1971050 Polymorphism of WDR 36 Gene with Clinical Profile in POAG Patients

To study WDR36 gene polymorphism (rs10038177 , rs1971050) and its association with clinical parameters in patients of primary open angle glaucoma. Methods: A cross sectional study conducted on 105 cases of POAG to study its association with WDR36 gene polymorphisms (rs 10038177, rs 1971050). The study subjects underwent complete ophthalmic examination, slit lamp examination, IOP measurement by Goldmann’s Applanation Tonometer, gonioscopy, fundus evaluation by 90D lens. RNFL thickness was measured using cirrus 500 OCT by Carl Zeiss. Peripheral blood samples were collected in EDTA-anticoagulant tubes, then DNA was extracted using the genomic DNA extraction and genotyped by PCR-RFLP by using (AluI) enzyme.Data analysis by SPSS, version 21.0. Chi-square and Independent sample ‘t’-tests used for comparison. Results: The association of genotypic expression of rs10038177 polymorphism with different clinical variables in POAG patients ,and the mean IOP (31.66 +/-5.88) and CDR (0.72+/- 0.15) for heterozygous genotype TC was significantly higher as compared to homozygous de33eeeee4(p<0.05) while in rs1971050 polymorphism, Diabetic history was significantly higher in genotype TC(60%)(p=0.012) as compared to genotype TT (19.1%). Conclusion: Our study shows that WDR 36 polymorphism (rs10038177) and (rs1971050) have an association with higher IOP and RNFL thinning which could be the underlying factors in pathogenesis and progression of POAG.

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Craniopharyngioma in Adults - Neurosurgical Outcome

Craniopharyngiomas are rare tumors developed in the area of the sella turcica and especially the suprasellar region. Despite their benign histological nature they are locally aggressive and surgical intervention is a major challenge due to the risk of damaging critical neural and vascular neighbouring structures. Objective: To study the postsurgical evolution of craniopharyngioma in adults after total or partial surgical resection. Material and methods: We performed a retrospective review of adult craniopharyngioma patients evaluated and followed up in the Pituitary Diseases Department of the National Institute of Endocrinology in Bucharest between 1998 and 2018. Results: A total of 60 patients (39.62±15.6 years-old) diagnosed with craniopharyngioma were included. All underwent initial surgery (68.3 % transcranial, 31.7% transsphenoidal approach). Gross total resection (GTR) was achieved in 21 cases (35%), in all the others partial resection was obtained (non-GTR). Immediate non-threatening postsurgical complications were anosmia (in 2 cases), cerebrospinal fluid-CSF leak (3 cases), subdural hematoma (2 cases). After surgery 13 cases (21.66%) had cognitive impairment (2 with GTR, 11 with non-GTR), 14 (23.3%) had hypothalamic syndrome (diurnal sleepiness, appetite and memory dysfunction- present in 1 case with GTR, 13 with non-GTR), 27 cases (45%) reported lethargy (7 GTR, 20 non-GTR), 24 (40%) complained of headaches (6 GTR, 18 nonGTR). All these complications were signifi cantly more frequent in cases with incomplete tumor resection compared to those with GTR: p= 0.000; 0.000; 0.036 and 0.009, respectively. Conclusions: Craniopharyngioma as well as its treatment are associated with very significant morbidity. Aggressive surgical resection with the aim of GTR is possible in a signifi cant percentage of cases and if it is carefully considered in view of the surgically perceived risk of neurologic injury it is associated with lower postsurgical morbidity.

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Parathyroid Hormone-Related Bone Loss in End-Stage Renal Disease: Where to Measure?

Renal osteodystrophy is almost universally found in patients with end-stage renal disease (ESRD). Although bone biopsy is the gold standard for assessment of bone status it is infrequently used.
Guidelines (KDIGO, 2009) recommend the use of dual-energy X-ray absorptiometry (DXA), as a method for measuring bone quantity, in all dialysis patients who either have had fractures or have risk factors for osteoporosis but state against routine use of DXA for bone mineral density (BMD) measurement. This is because low BMD measured by DXA was consistently associated with an increased risk of low trauma fractures in general population but in patients with ESRD studies produced conflicting results (Inaba et al., 2005
Jamal et al., 2002
Kaji et al., 2002
Urena et al., 2003
Yamaguchi et al., 1996). There are many causes of this heterogeneity including secondary hyperparathyroidism, presence of low bone turnover disease, osteomalacia, site of BMD measurement or fracture assessment (clinical vs. radiological).

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