Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

BACKGROUND AND AIMS: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide. METHODS: The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers. RESULTS: Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients. CONCLUSION: Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.

Minor physical anomalies may be related to treatment resistance in patients with schizophrenia.

This study investigates the relationship between minor physical anomalies (MPA) and treatment resistance in schizophrenia (TRS). We evaluated 137 patients and 100 healthy controls by using a modified Waldrup MPA scale. Thirteen MPA items were found more frequently in the schizophrenia group than in the controls. The total MPA score was higher in TRS, and MPAs in the eye and mouth regions were more frequent in TRS (n = 57) than in non-TRS. Total MPA score was correlated to Brief Psychiatric Rating Scale-Expanded (BPRS-E) total and BPRS-positive scores in TRS. Our findings suggest that MPA might contribute to treatment resistance in schizophrenia.

Presence of fragmented QRS may be associated with complex ventricular arrhythmias in patients with type-2 diabetes mellitus.

BACKGROUND: Ventricular arrhythmias (VAs) are frequent in diabetes mellitus (DM) patients. Myocardial fibrosis is one of the components of diabetic cardiomyopathy secondary to DM. Fragmented QRS (fQRS) on electrocardiography (ECG) has been shown to be a marker of myocardial fibrosis. In this study, we aimed to investigate the association between fQRS and complex VAs in patients with DM. METHODS: Three hundred and thirty-six consecutive patients who were diagnosed with DM were included in the study. The control group consisted of 275 age- and sex-matched healthy individuals. ECG and transthoracic echocardiography were performed in all the patients. fQRS was defined as additional R' wave or notching/splitting of S wave in two contiguous ECG leads. All the patients underwent 24-h Holter monitoring and VAs were classified using Lown's scoring system. Lown class ≥ 3 VAs were considered as complex VAs. RESULTS: As compared to the healthy individuals, prevalence of fQRS (37.5% vs. 6.9%, p < .001) and complex VAs (14% vs. 0%, p < .001) were significantly higher in patients with DM. Furthermore, complex VAs (28.4% vs. 6.4%, p < .001) were significantly higher in DM patients with fQRS. In multiple logistic regression analysis, DM duration (OR: 1.510, 95% CI:1.343 to 1.698; p < .001) and presence of fQRS (OR: 3.262, 95% CI: 1.443 to 7.376; p = .004) were independent predictors for complex VAs. CONCLUSIONS: The presence of fQRS may be associated with complex VAs in patients with DM. Therefore, fQRS may be used as a predictor of complex VAs and the risk of sudden death in patients with DM.

Increased epicardial adipose tissue thickness is associated with microalbuminuria in hypertensive patients with left ventricular hypertrophy.

OBJECTIVE: Epicardial adipose tissue (EAT) is a cardiometabolic risk factor, and its possible relationship with hypertension has been previously reported. Microalbuminuria (MA) is associated with target-organ damage, especially in patients with hypertension with left ventricular hypertrophy (LVH) and suggest endothelial dysfunction. This study aimed to investigate the relationship between echocardiographic EAT thickness and presence of MA in patients with hypertension. METHODS: A total of 297 newly diagnosed hypertension patients who applied to the outpatient clinic were enrolled consecutively in this study. Patients were divided into two groups regarding the presence of LVH in echocardiography. An age and gender matched control group was set including 156 healthy patients without HT. All subjects underwent transthoracic echocardiography for the measurement of EAT thickness. Spot urine samples were collected for the assessment of MA. RESULTS: In hypertensive patients with LVH, the EAT thicknesses (6.6 ± 1.8 vs 5.3 ± 1.5 vs 5.1 ± 1.3, p < .001; respectively) and prevalence of MA (41.2 vs 20.1 vs 3.2%; p < .001 respectively) were significantly higher than the other two groups. In hypertensive patiens without LVH, no relationship was found between the presence of MA and EAT thickness. In multivariate regression analyses, EAT thickness (OR: 3.141, 95%CI: 2.425-6.123, p < .001) and left ventricular mass index (OR: 1.339, 95%CI: 1.145-2.143, p = .003) were determined as independent predictors for MA development in hypertensive patients with LVH. CONCLUSION: Measurement of EAT thickness may help to identify high-risk hypertensive patients for target-organ damage especially among patients with LVH.

25-Hydroxyvitamin D levels and bone mineral density evaluation in patients with cholecystectomy: a case-control study.

This study compared the 25-hyrdoxyvitamin (OH) D and bone mineral density (BMD) values of patients with and without cholecystectomy. Although 25(OH) D levels were significantly lower in the cholecystectomy group (12.1 ± 6.2 vs. 15.6 ± 6.6 ng/mL), no significant difference was observed between the groups in terms of BMD measurements. INTRODUCTION: Although 25 (OH) D levels were studied and found to be lower in patients with cholecystectomy, the data is scarce as regards the BMD. Therefore, the aim of this study was to compare the 25(OH) D and BMD values of patients with cholecystectomy and without cholecystectomy. METHODS: This study was a single-center and case-control trial. The cholecystectomy group comprised the patients with a history of cholecystectomy. In addition, a healthy control group without history of cholecystectomy was defined. All patients were selected consecutively from the patients who admitted to the outpatient clinics of physical and rehabilitation medicine or internal medicine between the June 2016 and August 2016. The patients were ambulatory and did not receive any osteoporosis treatment before. Chemiluminescence microparticle immunoassay method was used for 25(OH) D measurements. Dual-energy X-ray absorptiometry was used for the BMD evaluations. RESULTS: There were 46 patients in the cholecystectomy group with a mean age of 58.6 ± 14.1 years and 64 patients in the control group with a mean age of 59.2 ± 13.3 years. Although 25(OH) D levels were significantly lower in the cholecystectomy group (12.1 ± 6.2 vs. 15.6 ± 6.6 ng/mL) (p =  0.010), no significant difference was observed between the groups in terms of BMD measurements (p > 0.05). While there was a weak positive correlation between the BMI and BMD measurements (all p < 0.05), linear regression analyses showed that the models were not valid (femoral neck R = 0.092; femur total R = 0.170; and lumbar total R = 0.199). No significant difference was observed between the BMD measurements and time after cholecystectomy in the cholecystectomy group (p > 0.05). CONCLUSION: In the light of our results, cholecystectomy patients seem to have lower level of 25(OH) D levels in comparison with healthy subjects, but both groups have similar BMD values. Further studies in cohort designs taking into account the bone formation and resorption markers are awaited.

Influence of Rotary Instrumentation with Continuous Irrigation on Pain and Neuropeptide Release Levels: A Randomized Clinical Trial.

INTRODUCTION: The first objective was to determine correlation among various experimental and clinical pain measurement procedures. The second objective was to evaluate the influence of rotary instrumentation with continuous irrigation on pain and neuropeptide release levels. METHODS: Forty patients who had preoperative pain at the levels of 3-8 on the visual analogue scale were included. Gingival crevicular fluid (GCF) samples were collected. Patients were randomly assigned to 2 treatment groups, the standard preparation group and the preparation with continuous irrigation group. Apical fluid samples (AFS) were collected after instrumentation. In the second visit, the patients' pain levels were recorded, and GCF and AFS were obtained. Substance P, calcitonin-gene related peptide (CGRP), interleukin (IL)-1ß, and IL-10 levels were analyzed from the GCF and AFS samples. For comparison between groups, the Mann-Whitney test was used (P < .05). RESULTS: In terms of clinical data, no significant difference was detected in the first and second sessions between groups. The IL-10 level obtained from AFS significantly decreased in the second session in both groups (P < .001). Visual analogue scale scores of spontaneous pain correlated with percussion pain positively (r = 0.718, P < .001). CGRP (GCF) (second session) and IL-10 (GCF) (second session) positively correlated with percussion pain (r = 0.425, P < .01) (r = 0.379, P < .05). CONCLUSIONS: Rotary preparation with continuous irrigation has not been more effective than the standard preparation method for reducing pain. Because of determination of the correlation between CGRP and IL-10 with percussion pain, these neuropeptides can be used in further studies.