Category: Nevin Manimala

Ophthalmic Genet. 2021 Jul 12:1-14. doi: 10.1080/13816810.2021.1933544. Online ahead of print.

ABSTRACT

Purpose: To correlate clinical features, molecular genetic findings, and visual acuity in a cohort of patients clinically diagnosed with oculocutaneous albinism.Design: Retrospective chart reviewMethods: 58 charts met the inclusion criteria. Clinical examination, ancillary testing, and molecular genetic diagnoses were extracted. A novel clinical albinism score (CAS) was developed.Results: A least one likely pathogenic mutation was found in 44/58 (75.9%) patients. Mutations in the OCA1 gene were the most common (52.3%), followed by OCA2 (34%), OCA4 (2.3%), OA1 (6.8%), and HPS (4.5%). Thirty-four percentage of patients had a complete genotype, 41% had one mutation found and 24% had negative genetic testing. CAS was statistically significantly higher in patients with complete genotype, versus patients with one or no mutations found (p < .01). Better visual acuity was associated with lower CAS and fewer disease-causing mutations (p < .01). Foveal defects and iris transillumination were associated with a higher number of mutations (p < .01). Patients with nystagmus or anomalous optic nerves had worse visual acuity than those who did not (p < .01, p < .05).Conclusions: Patients with a complete genotype were more likely to have higher CAS. Vision loss correlated with complete phenotype and higher CAS, the presence of nystagmus and anomalous optic nerves. Patients with features of albinism in whom an incomplete genotype was found had better vision than those with complete genotype, suggesting a mild occult mutation or modifier variant. Genetic diagnosis is vital for complete diagnosis, counseling, and family planning.

PMID:34251969 | DOI:10.1080/13816810.2021.1933544

Ophthalmic Genet. 2021 Jul 12:1-5. doi: 10.1080/13816810.2021.1946702. Online ahead of print.

ABSTRACT

PURPOSE: Genetic factors have been studied to be associated with diabetic retinopathy (DR). This study aimed to investigate the association between the polymorphisms in the osteoproterin (OPG) gene and DR in a Han Chinese population.

METHODS: There were 475 patients with diabetic retinopathy (DR), 478 type 2 diabetes mellitus without retinopathy (DNR) and 469 healthy controls collected in this study. OPG single-nucleotide polymorphisms (SNPs) rs2073618 and rs3134069 were genotyped by Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were evaluated using the χ² tests. Odds ratio (OR) and 95% confidence intervals (95% CI) were calculated for the risk of genotype and allele.

RESULTS: There was a statistically significant difference for OPG SNP rs3134069 between DR cases and healthy controls in the allelic model (P = .036, OR = 1.33, 95% CI = 1.02-1.73). The C allele frequency of this polymorphism was 0.154 in the DR cases, whereas it was 0.120 in healthy controls, suggesting a risk effect for DR. SNP rs3134069 had a significant association with DR in the dominant model (P = .038, OR = 1.37, 95% CI = 1.02-1.84), indicating that the CC/AC genotype was more likely to suffer from DR. For rs2073618, no significant difference was identified in the allelic model (P = .632, OR = 0.95, 95% CI = 0.78-1.16) and the four genetic models.

CONCLUSIONS: This study showed that OPG SNP rs3134069 was associated with DR in the dominant model, suggesting that the OPG gene variant may be involved in the development of DR.

PMID:34251978 | DOI:10.1080/13816810.2021.1946702

Eur J Contracept Reprod Health Care. 2021 Jul 12:1-7. doi: 10.1080/13625187.2021.1946500. Online ahead of print.

ABSTRACT

OBJECTIVE: The study aimed to determine the effect of breastfeeding support through social media on women’s breastfeeding self-efficacy.

METHODS: A randomised controlled trial was conducted in the maternity unit of Aksaray University Education and Research Hospital, Turkey. Education and counselling on breastfeeding were given via WhatsApp to women in the intervention group. Women in the control group received routine breastfeeding teaching before discharge from hospital. The Breastfeeding Self-Efficacy Scale-Short Form (BSES-SF) was administered to both groups immediately after birth and at 3 and 6 months postpartum. The study was completed by 31 women in the intervention group and 37 women in the control group.

RESULTS: At 3 and 6 months there was a statistically significant difference in BSES-SF mean scores between the intervention and control groups (p < 0.05). BSES-SF scores in the intervention group were higher at 3 and 6 months compared with baseline, while BSES-SF scores in the control group were lower at 6 months compared with baseline.

CONCLUSION: Women’s breastfeeding self-efficacy was improved through a social media-based teaching and counselling intervention. Health care professionals should make use of social media tools to improve women’s breastfeeding self-efficacy and encourage continuity of breastfeeding.

PMID:34251949 | DOI:10.1080/13625187.2021.1946500

Free Radic Res. 2021 Jul 12:1-7. doi: 10.1080/10715762.2021.1942464. Online ahead of print.

ABSTRACT

Various biomarkers of oxidative stress and redox status have been used in a number of clinical and epidemiological studies related to diseases and conditions that involve disturbances of the redox balance. However, a comprehensive study of diurnal variations of a set of biomarkers has not been conducted so far. Therefore, the aim of this study is to investigate circadian rhythm and time-of-day-effects of a set of frequently used biomarkers of oxidative stress, redox and antioxidant status in serum/plasma. These biomarkers include Reactive Oxygen Metabolites (ROM), Biological Antioxidant Potency (BAP), Total Thiols in Proteins (TTP), high-sensitive C-Reactive Protein (CRP) and Uric Acid (UA). During a 24-hr study, blood sampling was conducted 6 times at 4-hr intervals. The presence of circadian rhythm was analyzed with CircWave analysis, whereas the effect of time was analyzed with Repeated Measures ANOVA (RM-ANOVA). Thereby, the main focus was on the time points in working hours (8, 12 and 16 hr), which are used frequently in practice. Of all investigated biomarkers, only TTP in males demonstrated statistically significant circadian rhythm (p = 0.040). A statistically significant effect between all six time points with RM-ANOVA was observed for ROM, TTP and UA in both genders, and for BAP in females only. No statistically significant differences were observed between the time points 8 hr and 12 hr for any of the biomarkers that were assessed in our study. In conclusion, diurnal variations in some of the studied biomarkers that we demonstrate here should be taken into account when designing and conducting clinical and epidemiological studies. It is advised to standardize the time of sampling with a preference in the morning hours.

PMID:34251957 | DOI:10.1080/10715762.2021.1942464

Immunol Invest. 2021 Jul 12:1-9. doi: 10.1080/08820139.2021.1948564. Online ahead of print.

ABSTRACT

Diabetic kidney disease (DKD) is one of the more limiting complications to the quality of life of diabetes mellitus patients. Studies including cultured cells, animal models, and case-control studies highlight the role of human β-defensin-1 (hBD-1) in diabetes.This study assessed the association of hBD-1 gene (DEFB1) functional variations -52 G/A (rs1799946), -44 C/G (rs1800972) and -20 G/A (rs11362) with type 2 diabetes mellitus (T2DM) in order to investigate its effects on genetic susceptibility and progression to DKD in a Mexican population. A total of 214 T2DM patients with and without DKD (n = 102 and n = 112, respectively) and 117 healthy subjects participated in this case-control study. Genotyping was made by PCR-RFLPs. Clinical and biochemical parameters of all patients were measured. There was no statistically significant difference in genotype or allele frequencies between patients and healthy individuals. Nevertheless, compared with patients without DKD, DKD patients have a reduced prevalence of AA genotype of -52 G/A (OR = 0.307, 95% CI = 0.104-0.905, p =.026), as well as a higher frequency of GA genotype of -20 G/A variant (OR = 1.875, 95%CI = 1.031-3.409, p = .038). Our results suggest that rs1799946 and rs11362 could be useful variants to stratify T2DM Mexican patients in order to prescribe closer follow-up to prevent or retard DKD. Further tests in different ethnic groups are encouraged.

PMID:34251960 | DOI:10.1080/08820139.2021.1948564

Isr Med Assoc J. 2021 Jul;23(7):408-411.

ABSTRACT

BACKGROUND: Our hospital used to perform cesarean delivery under general anesthesia rather than neuraxial anesthesia, mostly because of patient refusal of members of the conservative Bedouin society. According to recommendations implemented by the Israeli Obstetric Anesthesia Society, which were implemented due to the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic, we increased the rate of neuraxial anesthesia among deliveries.

OBJECTIVES: To compare the rates of neuraxial anesthesia in our cesarean population before and during SARS-CoV-2 pandemic.

METHODS: We included consecutive women undergoing an elective cesarean delivery from two time periods: pre-SARS-CoV-2 pandemic (15 February 2019 to 14 April 2019) and during the SARS-CoV-2 pandemic (15 February 2020 to 15 April 2020). We collected demographic data, details about cesarean delivery, and anesthesia complications.

RESULTS: We included 413 parturients undergoing consecutive elective cesarean delivery identified during the study periods: 205 before the SARS-CoV-2 pandemic and 208 during SARS-CoV-2 pandemic. We found a statistically significant difference in neuraxial anesthesia rates between the groups: before the pandemic (92/205, 44.8%) and during (165/208, 79.3%; P < 0.0001).

CONCLUSIONS: We demonstrated that patient and provider education about neuraxial anesthesia can increase its utilization. The addition of a trained obstetric anesthesiologist to the team may have facilitated this transition.

PMID:34251121

Eur J Transl Myol. 2021 Jul 12. doi: 10.4081/ejtm.2021.9929. Online ahead of print.

ABSTRACT

Aging well is directly associated to a healthy lifestyle. The focus of this paper is to relate individual wellness with medical image features. Non-linear trimodal regression analysis (NTRA) is a novel method that models the radiodensitometric distributions of x-ray computed tomography (CT) cross-sections. It generates 11 patient-specific parameters that describe the quality and quantity of muscle, fat, and connective tissues. In this research, the relationship of these 11 NTRA parameters with age, physical activity, and lifestyle is investigated in the 3,157 elderly volunteers AGES-I dataset. First, univariate statistical analyses were performed, and subjects were grouped by age and self-reported past (youth-midlife) and present (within 12 months of the survey) physical activity to ascertain which parameters were the most influential. Then, machine learning (ML) analyses were conducted to classify patients using NTRA parameters as input features for three ML algorithms. ML is also used to classify a Lifestyle index using the age groups. This classification analysis yielded robust results with the lifestyle index underlying the relevant differences of the soft tissues between age groups, especially in fat and connective tissue. Univariate statistical models suggested that NTRA parameters may be susceptible to age and differences between past and present physical activity levels. Moreover, for both age and physical activity, lean muscle parameters expressed more significant variation than fat and connective tissues.

PMID:34251162 | DOI:10.4081/ejtm.2021.9929

Urologiia. 2021 Jun;(3):98-103.

ABSTRACT

OBJECTIVE: To compare the perioperative, functional, clinical and morphological results of a standard robot-assisted nerve-sparing radical prostatectomy and with the use of the Retzius-sparing technique.

MATERIALS AND METHODS: A prospective analysis was performed of two groups of patients (n=54) who underwent nerve-sparing robot-assisted radical prostatectomy (period from 2017 to 2018). The first group included 29 patients who underwent nerve-sparing robot-assisted radical prostatectomy with Retzius-sparing technique, the second – 25 patients operated on according to the standard method of bilateral nerve-sparing radical prostatectomy. All patients were comparable in baseline characteristics. In all cases, patients had histologically verified localized prostate cancer pT2a-2c.

RESULTS: In cases with use Retzius-sparing technique there is no statistically significant difference in the operation time (243.60 min vs 236.64 min, in groups 1 and 2, p>0.05) and intraoperative blood loss (131.20 ml vs 122.57 ml , in groups 1 and 2, p>0.05). Regarding the dynamics of the urinary continence recovery, the Retzius-sparing technique demonstrates advantages in speed and frequency at all follow-up periods (54.13% vs 41.81%; 68.12% vs 59.21%; 94.15% vs 90 , 63%; 98.54% vs 97.12%; 98.62% vs 97.31%; 98.83% vs 97.82% – in one week after removal of the urethral catheter, 1, 3, 6, 9, and 12 months in the first and second group, respectively). The frequency of erectile function recovery after 12 months was 82.17% and 71.14% in the first and second groups, respectively.

CONCLUSIONS: Retzius-sparing robot-assisted prostatectomy superior to standard operation in the speed and timing of recovery of urine continence and erectile function.

PMID:34251109

Urologiia. 2021 Jun;(3):110-113.

ABSTRACT

AIM: To evaluate the efficiency of additional methods of intraoperative control during transurethral resection (TUR) for the treatment of non-muscle invasive bladder cancer.

MATERIAL AND METHODS: A total of 138 patients (92 men and 46 women) with non-muscle-invasive bladder cancer (Ta-T1N0M0) were treated in the urological clinic of Kazan State Medical University. The median age was 59 years. In 28 patients TUR was performed as monotherapy, in 28 patients TUR with photodynamic therapy (PDD) was done and other 26 patients undergone TUR under dynamic transurethral ultrasound control. In 29 patients, TUR was combined with a single intravesical instillation of a chemotherapy drug, and in 27 patients, TUR was combined with long-term intravesical chemotherapy. The frequency and type of relapses was evaluated depending on the treatment method during five-year follow-up period. Analysis of postoperative complications and their severity was performed according to the Clavien-Dindo classification. Statistical analysis was performed using the Statistica 7.0 and Microsoft Excel 2003 software package. Survival was assessed using the Kaplan-Meier method. Differences in survival between groups were determined using a log-rang test.

RESULTS: The total 5-years recurrence rate in the group 1 was 60.71% (n=17). There were 6 recurrences in the resection area (21.43%) and 8 recurrences outside the resection area (28.57%). The progression rate was 10.71% (n=3). In the group 2, the overall recurrence rate was 25% (n=7), including 2 (7.14%) and 4 (14.29%) recurrences in and outside resection area, respectively. The progression rate was 3.57% (n=1). In the group 3, where TUR was performed in combination with transurethral ultrasound, 7 recurrences were diagnosed over a five-year period (26.92%), including 1 recurrence in the resection area (3.84%) and 6 recurrences in other parts of bladder (23.07%). There was no progression of bladder cancer. In the group of patients who received a single intravenous chemotherapy after TUR, there were no significant differences with the group of patients where TUR was performed as monotherapy. The total number of recurrences was 55.16% (n=16). There were 4 recurrences in the resection area (13.79%) and 9 recurrences in other parts of bladder (31.03%), as well as 3 case of disease progression (10.34%). At the same time, in the group of patients where prolonged course of adjuvant intravesical chemotherapy was performed, a significant decrease in the recurrences rate in the resection area (7.4%; n=2) and progression (3.7%, n=1) was found. The number of recurrences outside the resection area was comparable with the group 1 (22.22%; n=6).

CONCLUSIONS: According to our data, we recommend to perform TUR in combination with PDD and transurethral ultrasound in order to improve the oncological results. Long-term intravesical chemotherapy is an effective alternative in case of inability to use additional intraoperative control and it should be included in the treatment scheme of patients with a high risk of recurrence.

PMID:34251111

Urologiia. 2021 Jun;(3):61-69.

ABSTRACT

INTRODUCTION: Transurethral resection of the prostate (TURP) is the gold standard of BPH surgical treatment. It is of current interest to search for medications that can reduce the incidence of complications after TURP.

AIM: To evaluate the efficiency of Longidaza (rectal suppositories of 3000 IU) as part of combined therapy in order to prevent complications after TURP.

MATERIALS AND METHODS: The study included 202 patients who underwent TURP in 3 hospitals. The patients were divided into 2 groups: main group – 96 men taking standard postoperative therapy with Longidaza rectal suppositories N 20; control group – 106 men – taking standard postoperative therapy (tamsulosin 30 days; fluoroquinolone 5 days). Follow-up included IPSS, urinalysis, urine culture, ultrasound examination of the prostate volume (PV), post void residual urine, uroflowmetry at 1,2,3,6 months after surgery. Average preoperative indices: IPSS 27 [23; 30], Qol 5 [4; 6], prostate volume (PV) 71+/-19cc (30-272 c), Qmax 7.5+/-2.5ml/s (1,3-18,7 ml/s).

RESULTS: There was a significant improvement in IPSS, QoL, Qmax, PV, post void residual urine (PVR) compared to preoperative values during the entire observation period. There was no statistical difference between the main and control groups for these indexes in 6 months. In the main group had statistically lower incidence of bacteriuria at 3 (11% vs 17%) and 6 months (7% vs 17%), and leukocyturia at 3 (31% vs 46%) and 6 months of follow-up (20% vs 44%). Overall incidence of infectious complications and additional antibacterial drugs prescription was lower in the Longidaza group compared to the control group (17,7% vs 20,7%). Urethral strictures developed in 7 men in the main group, and 8 in the control group.

CONCLUSION: Our results show that prescription of Longidaza significantly reduces the incidence of leukocyturia and bacteriuria postoperatively, decreasing the rate of infectious complications in men after TURP.

PMID:34251103