Krusemouritsen8351

Common mutations in BTD deficiencies were indentified. Associating them with phenotype-genotype data will assist clinicians in better genetic counselling and management in the future by implementing prevention programmes. Key Words Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic disease, Newborn screening programme.

Common mutations in BTD deficiencies were indentified. Associating them with phenotype-genotype data will assist clinicians in better genetic counselling and management in the future by implementing prevention programmes. Key Words Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic disease, Newborn screening programme.

To determine the association of alpha-1 antitrypsin deficiency (AATD) in patients diagnosed with primary spontaneous pneumothorax (PSP), the presence of the SERPINA 1 gene, and the phenotype in patients with low enzyme values.

Cross-sectional descriptive study.

Kayseri City Training and Research Hospital, Turkey, from October 2019 to October 2020.

A total of 42 patients with PSP and 42 healthy volunteers were included in the study. The antitrypsin (AAT) level of all participants was measured by the ELISA method. Presence of SERPINA 1 gene was determined in all the participants and its phenotype variants.

In this study, AAT level was statistically and significantly lower in the patient group than the control group (p = 0.018). The presence of the SERPINA 1 gene was studied in 13 (31%) patients with AATD and 7 (16.7%) healthy volunteers. Six patients had PI M1V variant (37.5%), five patients had PI M1A variant (31.3%), four patients had PI M4 variant (25%), and one patient had an indeterminate variant (6.2%). Four healthy volunteers had PI M1V variant (66.7%), and two healthy volunteers had PI M4 variant (33.3%).

AAT level was found to be lower in the patient group compared to the control group. In addition, the effect of SERPINA 1 gene on PSP development was found to be benign. AATD is an effective factor in the development of PSP. Key Words Primary spontaneous pneumothorax, Alpha 1 antitrypsin deficiency, Genotype variants, SERPINA 1 gene.

AAT level was found to be lower in the patient group compared to the control group. In addition, the effect of SERPINA 1 gene on PSP development was found to be benign. AATD is an effective factor in the development of PSP. Key Words Primary spontaneous pneumothorax, Alpha 1 antitrypsin deficiency, Genotype variants, SERPINA 1 gene.

To determine the results of high-risk geriatric patients treated with percutaneous cholecystostomy (PC) for acute cholecystitis (AC).

Observational study.

Department of Interventional Radiology, Recep Tayyip Erdogan University Hospital, Rize, Turkey, from April 2015 to October 2020.

Seventy-four patients, who underwent PC with a diagnosis of AC, were divided into three groups according to their ages 65-74 years as group I, 75-84 years as group II, and ≥85 years as group III. Groups were compared in terms of American Society of Anesthesiologists (ASA) score, Charlson Comorbidity Index (CCI), technical success, clinical success, complications, need for cholecystectomy, duration of hospital stay, 30 and 90 days mortality, catheter removal time, and recurrent cholecystitis after catheter insertion.

Technical success was 100% in all groups. Clinical success decreased with age. There was a positive correlation between the patients' ASA score and age (p <0.001). The duration of hospital stay increased w; 95% CI 1.030-21.895; p = 0.046). The mean catheter removal time was the longest in group III, and there was a significant difference between the groups (p less then 0.001). A significant positive correlation was found between catheter removal time and CCI (p less then 0.001). There was no statistically significant difference between groups in terms of complications and recurrent cholecystitis. Conclusion PC can be considered as definitive treatment in advanced elderly patients and interval therapy in early old age. Key Words Acute cholecystitis, Elderly, Percutaneous cholecystostomy.

To compare superoxide dismutase 1 (SOD1) levels in diabetes mellitus patients with and without neuropathy.

Cross-sectional comparative study.

Multidisciplinary Lab-1 of the Department of Biochemistry and Molecular Biology, Army Medical College, in cooperation with Pak-Emirates Military Hospital, Rawalpindi, Pakistan, from January 2020 to January 2021.

Eighty-four subjects were enrolled through non-probability purposive sampling technique. They were further divided into three groups. Patients with diabetic neuropathy were labelled as the group Ι, and patients with diabetes mellitus without neuropathy were included in group ΙΙ. While group ΙΙΙ was comprised of healthy individuals and taken as control. Biochemical parameters included fasting blood glucose levels and HbA1c. Superoxide dismutase-1 levels were measured by enzyme-linked immunosorbent assay (ELISA). Data were evaluated by SPSS version 22.0 and presented in percentage and mean ± standard deviation (SD). Independent sample t-test and one-way ANOVA followed by the post-hoc Tukey test were used for group comparison.

Mean level of SOD1 was significantly higher in group Ι as compared to group ΙΙ and ΙΙΙ (p<0.001). Statistically significant difference was observed among groups Ι and ΙΙ (p=0.002), Ι and ΙΙΙ (p<0.001), and ΙΙ and ΙΙΙ (p=0.017). Mean levels of SOD1 were also significantly increased with poor glycemic control (p<0.001).

SOD1 level was considerably high in patients with diabetes mellitus with neuropathy in comparison to diabetics without neuropathy and healthy individuals. GSK-3 assay Key Words Diabetes mellitus, Diabetic neuropathy, ELISA, Superoxide dismutase 1(SOD1).

SOD1 level was considerably high in patients with diabetes mellitus with neuropathy in comparison to diabetics without neuropathy and healthy individuals. Key Words Diabetes mellitus, Diabetic neuropathy, ELISA, Superoxide dismutase 1(SOD1).

To evaluate the role of the traditional risk scoring system (TRSS) in detecting subclinical atherosclerosis in HIV (+) patients.

Cohort study.

Infectious Diseases Clinic, Izmir Katip Çelebi University, Atatürk Training and Research Hospital, from March 2017 to January 2018.

The patient group was formed with 52 HIV (+) patients, aged 18-60 years, and a control group was formed with 52 HIV (-) healthy volunteers. For all groups, there was no comorbid diseases or family history. Diabetes mellitus, hypertension, chronic kidney disease and cardiovascular disease were excluded from the two groups. Carotid intima-media thickness (CIMT) measurements were performed with high resolution B mode Doppler USG and patients with subclinical atherosclerosis were identified by the presence of atheroma plaque.

The median right CIMT measurement was 0.91 (0.73-0.97) mm and the median left CIMT was 0.90 (0.73-0.98) mm in HIV (+) patients. The median values of CIMT on right and left sides in the control group were 0.77 (0.