Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment. METHODS: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity. Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records. RESULTS: Data from 43 patients with CGL (37 females, 86%) were collected from centers located in eight countries. The mean (median, range) age at diagnosis was 5.1 (1.0, at birth-37) years. Genetic analysis of the overall cohort showed that CGL1 (n = 14, 33%) and CGL2 (n = 18, 42%) were the predominant CGL subtypes followed by CGL4 (n = 10, 23%); a genetic diagnosis was unavailable for one patient (2%). There was a high prevalence of parental consanguinity (93%) and family history (67%) of lipodystrophy, with 64% (n = 25/39) and 51% (n = 20/39) of patients presenting with acromegaloid features and acanthosis nigricans, respectively. Eighty-one percent (n = 35/43) of patients had at least one organ abnormality; the most frequently affected organs were the liver (70%, n = 30/43), the cardiovascular system (37%, n = 16/43) and the spleen (33%, n = 14/43). Thirteen out of 28 (46%) patients had HbA1c > 5.7% and 20/33 (61%) had triglyceride levels > 2.26 mmol/L (200 mg/dl). Generally, patients diagnosed in adolescence or later had a greater severity of metabolic disease versus those diagnosed during childhood; however, metabolic and organ system abnormalities were observed in a subset of patients diagnosed before or at 1 year of age. CONCLUSIONS: This analysis suggests that in addition to the early onset of fat loss, family history and high consanguinity enable the identification of young patients with CGL in the MENA region. In patients with CGL who have not received lipodystrophy-specific treatment, severe metabolic disease and organ abnormalities can develop by late childhood and worsen with age.

Effects of Chronic Lymphocytic Thyroiditis on the Clinicopathological Features of Papillary Thyroid Cancer.

BACKGROUND: The effects of chronic lymphocytic thyroiditis (CLT) on the presentation and outcome of papillary thyroid carcinoma (PTC) have long been a topic of controversy. OBJECTIVE: To evaluate the effect of coexistent CLT on the clinicopathological features of PTC. DESIGN: Retrospective study. PATIENTS: All patients with PTC who had been followed by the 2 co-investigators (Juan Rivera and Richard J. Payne) between 2006 and 2011 were included. RESULTS: CLT was present in 35% (166) of the included patients and was associated with a higher proportion of patients with TNM stage I (p = 0.027) and fewer patients with persistent disease (p = 0.014) in comparison with the PTC-only group. Analysis of the data based on age (<45 or >45 years) revealed that in the older group, the presence of CLT was associated with fewer patients with persistent disease (p = 0.03) and capsular invasion (p = 0.05). However, in patients <45 years of age, the presence of CLT was associated with more capsular invasion (p = 0.003) and extrathyroidal extension (p = 0.004) compared with the PTC-only group. CONCLUSIONS: CLT in patients with PTC was associated with lower-stage disease and less disease persistence in patients >45 years of age. In patients <45 years, the presence of CLT appeared to be associated with unfavorable pathological features.

Fear of Self-Injecting and Self-Testing and the Related Risk Factors in Adolescents with Type 1 Diabetes: A Cross-Sectional Study.

INTRODUCTION: This study was conducted to investigate the fear of self-injecting and self-testing and its related risk factors among adolescents with type 1 diabetes mellitus (T1DM). METHODS: From December 2015 to April 2016, a cross-sectional study was performed at the Diabetes Treatment Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia on 142 registered T1DM patients between 13 and 19 years of age. Selection of the respondents was done deliberately and carefully, and the suitable patients were given specific identification numbers. A trained interviewer administered the short Diabetes Fear of Injecting and Self-testing Questionnaire to each patient. It included two subscales estimating the fear of self-injection (FSI) and fear of self-testing (FST). Each patient's age, gender, weight, height, adjusted body mass index (BMI), duration of the diabetic condition, treatment modality, insulin dosage, and glycosylated hemoglobin (HbA1c) were recorded. RESULTS: The study found that the overall mean score of FSI was 2.44 ± 0.96, whereas that of FST was 2.25 ± 1.04. Adolescents above 16 years of age, treated with multiple daily insulin (MDI), on higher insulin doses, having poor glycemic control, and fewer finger pricks were observed to show significant risk factors for fear of self-injection of insulin, whereas in those patients having a long duration of T1DM, MDI treated, on higher insulin doses, with poor glycemic control, and fewer finger pricks showed significant risk factors for fear of self-testing of blood glucose. From the regression analysis it was evident that the variables of higher age, MDI treatment, and fewer finger pricks were independent risk factors for fear of self-injection of the insulin, whereas a fewer number of finger pricks was an independent risk factor for fear of self-testing the blood glucose. CONCLUSION: Fear of self-injecting and fear of self-testing are common among adolescents with T1DM. Therefore, it is essential to ensure comprehensive multidisciplinary diabetes education to lower the risk factor of fear of injections.