Impact of dehydration and fasting on intraocular pressure and corneal biomechanics measured by the Ocular Response Analyzer

Purpose

To investigate the effects of dehydration and fasting on the intraocular pressure (IOP) and corneal biomechanics during Ramadan in healthy subjects.

Methods

A total of 36 healthy fasting male volunteers with a mean age of 32.7 ± 5.1 years (range 28–38 years) were enrolled in the study. A Reichert Ocular Response Analyzer (ORA) was used to measure the corneal resistance factor (CRF), corneal hysteresis (CH), Goldman-correlated IOP (IOPg), and corneal-compensated IOP (IOPcc), additionally IOP with Goldmann applanation tonometer (IOP-GAT) was taken. All measurements were recorded at 8:00 am and 4:00 p.m. during Ramadan and during a 1-month follow-up after Ramadan was over.

Results

Statistical analysis demonstrated no difference in the ORA measurements including CH, CRF, IOPcc, and IOPg; CCT and CV values between fasting and non-fasting periods or within a single day (diurnal changes). Nine volunteers (25% of total subjects) were excluded because eyedrops were believed to disrupt the Ramadan fast consequently IOP-GAT could not be measured from these subjects. No statistically significant difference was noted between IOP-GAT and IOPg measurements of twenty-seven subjects at the different periods and time points.

Conclusions

Our results reveal that fasting during Ramadan does not profoundly affect corneal biomechanics and IOP values in healthy volunteers without ocular diseases such as glaucoma. When planning corneal refractive surgery and determining IOP, the ORA measurements can be done safely during a Ramadan fast. Moreover, ORA may be a better alternative for patients that refuse IOP measurement via GAT for examining the accuracy of IOP during fasting. Further studies are needed to better understand the role of these parameters on corneal disease and glaucoma during fasting.

     

Mutations in AR or SRD5A2 Genes: Clinical Findings,Endocrine Pitfalls,and Genetic Features of Children with 46,XY DSD

Objective:Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD.Methods:Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (AR) gene was screened when the ratio was <20. Stepwise analysis of other associated genes were screened in cases with no causative variant found in initial analysis. For statistical comparisons, the group was divided into three main groups and subgroups according to their genetic diagnosis and T/DHT ratios.Results:A total of 128 DSD patients from 125 non-related families were enrolled. Birth weight SDS and gestational weeks were significantly higher in 5α-RD group than in AIS and undiagnosed groups. Completely female phenotype was higher in all subgroups of both AIS and 5α-RD patients than in the undiagnosed subgroups. In those patients with stimulated T/DHT <20 in the prepubertal period, stimulated T/DHT ratio was significantly lower in AIS than in the undiagnosed group, and higher in 5α-RD. Phenotype associated variants were detected in 24% (n=18 AIS, n=14 5α-RD) of the patients, revealing four novel AR variants (c.94G>T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects.Conclusion:T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel AR variants were identified in our study.     

Low back pain and risk factors among Taxi drivers in Turkey: a cross-sectional study

Background: Taxi drivers have an increased risk of low back pain due to both physical and occupational conditions. This study aims to determine the prevalence of low back pain and occupational risk factors among taxi drivers working in Izmir, Turkey. Methods: This study was conducted with 447 taxi drivers at randomly selected taxi stands between April and September 2021. The questionnaire included demographic, individual, and work-related questions; the Nordic Musculoskeletal Questionnaire; and the Back Pain Functional Scale (BPFS). Results: The prevalence of low back pain in the last year was 49.7%. In multivariate logistic regression analyses, the risk factors for low back pain included having a body mass index of25-29.9 kg/m² (OR= 1.67, 95% CI 1.01-2.76) or >30 kg/m² (OR= 2.15, 95% CI 1.19-3.87), no physical activity (OR= 1.66, 95% CI1.06-2.62), years of work >10 (OR= 3.23, 95% CI1.89-5.53), no weekly rest period (OR= 3.11, 95% CI 1.42-6.81), having no lumbar support on the driver''s seat (OR=1.67, 95% CI 1.05-2.66), or undecisive job satisfaction (OR= 2.07, 95% CI 1.17-3.66). Being undecided about job satisfaction (OR= 2.34, 95% CI 1.15-4.92) and not having physical activity (OR= 2.10 CI 1.08-4.08) were found to be risk factors for reduced BPFS scores. Conclusion: A strong correlation was found between the frequency of low back pain and the BPFS score and occupational factors. Early detection and management of low back pain are critical to avoid increased low back pain and related injuries among taxi drivers.     

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul,Turkey

We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in İstanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation. Molecular analyses were performed in 25.5% (n: 76) of families, and 21 novel variants were identified. Classification according to International Skeletal Dysplasia Society-2019 revision revealed limb hypoplasia-reduction defects group (39) as the leading one, 24.5%, then followed by FGFR3 chondrodysplasias, osteogenesis imperfecta, and decreased mineralization and polydactyly-syndactyly-triphalangism groups 13.6, 11.1, and 8.9%, respectively. The inheritance pattern was autosomal recessive in 54% and autosomal dominant in 42.6% of index cases. The overall consanguinity rate of the cohort was 33%. The high prevalence of ultrarare diseases along with two or more unrelated autosomal recessive entities running in the same family was noteworthy. This study highlights the pivotal role of postmortem evaluation by an experienced clinical geneticist to achieve a high diagnostic yield in fetal skeletal dysplasia cohorts. The cohort is not only a representation of the spectrum of skeletal dysplasias in a population with a high consanguinity rate but also provides an ideal research group to work on to identify the unknowns of early fetal life.     

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

Aim

To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up.

Methods

This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months.

Results

The Kaplan–Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan–Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan–Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan–Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma.

Conclusions

Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.     

Cardiac involvement and cardiovascular risk factors in pediatric primary systemic vasculitides

Clinical Rheumatology - Pediatric primary systemic vasculitides are a complex group of diseases. Vasculitis subgroups are mainly determined according to the size of the predominantly affected...     

Report of 2 pediatric cases with atypical Cogan's syndrome and a systematic review

Cogan's syndrome (CS) is a rare inflammatory disease characterized by interstitial keratitis or uveitis, vestibular impairment, and progressive hearing loss, commonly bilateral. Although glucocorticoids are fundamental treatment options, in most cases, hearing loss gradually worsens. Herein we report 2 pediatric cases of CS who were treated with corticosteroids and methotrexate. One patient had a cochlear implant, and the hearing of the other patient improved with treatment. Also, a systematic literature review was conducted for articles including pediatric CS patients. In the literature, 34 articles describing 44 pediatric patients with CS were identified. Sudden hearing loss (95.3%) and ocular symptoms (92.5%) were the most common manifestations in these patients. Also, aortic involvement was present in 19.5% of patients in the literature. Otorhinolaryngologists, ophthalmologists, and pediatricians should collaborate to diagnose and manage CS to prevent progressive hearing loss and eye involvement.