Mccormickjokumsen4799

Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).

Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed.

An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in

and three in

. Three large homozygous deletions in

were identified by copy-number variant analysis.

Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.

Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.

The aim of this study was to determine the determinants of socio-economic inequality in the prevalence of short stature and underweight in Iranian children and adolescents.

This cross-sectional nationwide study was conducted on 36,486 participants, aged 6-18 years. This school-based surveillance (CASPIAN- IV) program and its complementary part on weight disorders evaluation was conducted in urban and rural areas of 30 provinces in Iran. In addition to physical examination, a validated questionnaire was completed from students and their parents. Socio-economic status (SES) was determined using principal component analysis, and was classified in quintile scale. Inequality in the prevalence of underweight and short stature was assessed using concentration (C) index and slop index of inequality (SII) by the Oaxaca-Blinder decomposition method.

The prevalence (95% CI) of underweight and short stature at national level was 10.89 (10.55, 11.23) and 4.15 (3.94, 4.38), respectively; it had a downtrend from the lity. Therefore, this issue needs to be considered in health promotion policies.

The results of this study showed that inequality in the prevalence of short stature and underweight was in favor of high SES groups. Moreover, living area was one of the most important determinants that explained this inequality. Therefore, this issue needs to be considered in health promotion policies.

Warthin-like papillary thyroid cancer (WL-PTC) is an uncommon variant of PTC, usually associated with lymphocytic thyroiditis. Scarce evidence suggests that WL-PTC has similar clinical presentation to classic PTC (C-PTC), with no studies comparing risks of recurrence and response to treatment between both variants. Our objective was to describe the clinical presentation and prognosis of WL-PTC and compare it to C-PTC.

Retrospective analysis of a prospective cohort, including 370 (96%) patients with C-PTC and 17 (4%) with WL-PTC, consecutively treated with total thyroidectomy with or without RAI, followed for at least 6 months. 6-OHDA cell line We compared clinical presentation, risk of mortality and recurrence, as well as response to treatment between both variants.

Of the total cohort 317 (82%) female, 38 ± 13.5 years, median follow-up 4 years (0.5-28.5); most of them stage I and low/intermediate risk of recurrence. We found no differences regarding clinical-pathological data and risk of recurrence. WL-PTC was associated with a higher rate of anti-thyroglobulin antibodies (TgAb) (65%

36%, p = 0.016) and lymphocytic thyroiditis (59%

34%, p = 0.03). The rates of biochemical and structural incomplete responses were similar in both variants. WL-PTC had a lower rate of excellent response (23%

54%, p = 0.01), which became non-significant when performing analysis by TgAb presence (50%

67%, p = NS).

WL-CPT and C-CPT have similar clinical presentation and rate of recurrence. The lower rate of excellent response to treatment in WL-PTC is due to a higher frequency of TgAb. WL-PCT should not be considered an aggressive variant of PTC.

WL-CPT and C-CPT have similar clinical presentation and rate of recurrence. The lower rate of excellent response to treatment in WL-PTC is due to a higher frequency of TgAb. WL-PCT should not be considered an aggressive variant of PTC.

We aimed to evaluate the patients diagnosed with papillary thyroid carcinoma (PTC) and papillary thyroid microcarcinoma (PTMC) in terms of clinical, ultrasonographical (US) and histopathological features and their relationships with tumor size.

We retrospectively evaluated 881 patients who underwent thyroid surgery in our clinic and diagnosed with PTC histopathologically were enrolled the study. Demographic characteristics, US findings and histopathological features were evaluated.

In total, 1264 nodules were identified in the 881 patients. The incidentality rates were higher in the PTMC group and also in the ≤ 5 mm group. In total multifocality rate was 32.9%, and was significantly higher in PTMC group than the PTC group. PTC and > 5 mm PTMC groups compared to PTMC and ≤ 5 mm groups respectively, were more aggresive histopathological features.

Since the incidentality rates were found significantly more common in our patients with PTMC and those with ≤ 5 mm, ultrasonographic features of the nodules should be evaluated carefully and for cases which are suspicious with US, US-guided fine needle aspiration biopsy (FNAB) should be considered in order to make the correct treatment strategy. Also our study revealed that PTC and > 5 mm PTMC groups compared to PTMC and ≤ 5 mm groups respectively, have more aggresive histopathological features.

5 mm PTMC groups compared to PTMC and ≤ 5 mm groups respectively, have more aggresive histopathological features.

The objective of this study is to study association between testosterone and diabetes in Kashmiri males.

A total of 300 males with Type 2 diabetes visited an outpatient and inpatient clinic at Shri Maharaja Hari Singh (SMHS) hospital, Srinagar, J&K India. The blood sugar and HbA1c, which are the markers of diabetes, and sérum testosterone levels were measured. The blood samples from both the cases and controls were collected.

Out of 300 subjects, 42% had a testosterone deficiency. A relationship between type 2 diabetic males and healthy males was observed, and testosterone levels were determined to be significantly lower among diabetic males (p < 0.001) when compared to healthy males. Then, we compared diabetic markers among testosterone deficient and normal testosterone level groups; the mean fasting plasma glucose (p = 0.0019) and glycated haemoglobin (HbA1c; p = 0.0449) levels were significantly higher in the testosterone deficient group than in the control group. To elucidate the relationship between the serum total testosterone level and fasting plasma glucose and HbA1c values, Pearson's correlation test was performed.