Sporadic Progressive Young Onset Pallido-Pyramidal Syndrome with Kuforrakeb like Features

Abstract Introduction Narcolepsy is a sleep disorder caused by selective death of the orexin neurons that often begins in childhood. Orexin neuron loss disinhibits REM sleep during the active period and produces cataplexy, an abnormal behavioral state between REM sleep and wakefulness. Cataplexy is often more severe when narcolepsy develops in children compared to adults, but the mechanisms underlying this difference remain unknown. Methods We used orexin-tTA/TetO-DTA mice to model narcolepsy at different ages. When doxycycline is removed from the diet, the orexin neurons of these mice express diphtheria toxin A and die within 2–3 weeks. We removed doxycycline at 4 weeks (young-onset) or 14 weeks (adult-onset) of age in male and female mice. We implanted EEG and EMG electrodes for sleep recordings one week later and then recorded EEG/EMG/video for 24h at 3 and 13 weeks after removal of doxycycline. Age-matched controls had access to doxycycline diet for the entire experiment. Results Three weeks after doxycycline removal, both young-onset and adult-onset mice developed cataplexy and the sleep-wake fragmentation characteristic of narcolepsy. Age of orexin cell loss did not significantly affect cataplexy severity, however, female mice had more cataplexy than male mice overall. Both young- and adult-onset mice showed a 99% loss of orexin neurons at 3 weeks. Conclusion Considered together, our results suggest that the orexin-tTA/TetO-DTA mouse model of narcolepsy does not capture the severe cataplexy that is often seen in the human pediatric population. Support (if any):

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Clinical and demographic features among patients with type 1 diabetes mellitus in Henan, China

BMC Endocrine Disorders ◽

10.1186/s12902-021-00799-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Liguo Yang ◽

Guangxing Yang ◽

Xialian Li

Keyword(s):

Type 1 Diabetes ◽

Diabetic Retinopathy ◽

Blood Glucose Control ◽

Disease Onset ◽

Overweight And Obesity ◽

Adult Onset ◽

C Peptide ◽

Young Onset ◽

Onset Group

Abstract Background The hallmark of type 1 diabetes (T1D) is an absolute lack of insulin. However, many studies showed a tendency to heterogeneity in TID. We aimed to investigate the demographic and clinical characteristics in T1D and the differences in young-onset and adult-onset patients. Methods This retrospective study was conducted among 1943 patients with clinically diagnosed T1D. Medical records on patients’ demographics, anthropometric measurements, and clinical manifestation were collected. According to the age at onset, the newly diagnosed patients were divided into the young-onset group (< 18 years, 234 patients, mean age 11 years) and adult-onset group (≥ 18 years, 219 patients, mean age 27 years). Pancreatic β-cell function was assessed by fasting C-peptide (FCP) and 2-h C-peptide (2-h CP). Results The median age of patients at disease onset was 22 years. The median duration of patients was 3 years. The overall median glycated hemoglobin (HbA1c) value was 10.3 % [89(mmol/mol)]. The prevalence of diabetic retinopathy was 25.1 %. The overall rate of DKA at onset in the new-onset patients was 59.6 %. The frequency of overall dyslipidemia was 37.8 %. The most frequent dyslipidemia was low high-density lipoprotein-cholesterol (HDL) (29 %). The proportion of patients with anti-glutamic acid decarboxylase (GADA), insulin antibody (IAA) and islet cell antibody (ICA) were 28.1 %, 6.4 % and 21.6 %, respectively. The mean HbA1c showed a downward trend with age. Increasing or decreasing trends of overweight and obesity in this population during the period 2012 to 2018 was not found. Compared with young-onset T1D, adult-onset patients comprised better islet function (FCP: 0.4 vs. 0.3 ng/ml, P < 0.001; 2-h CP: 0.9 vs. 0.7 ng/ml P < 0.001, respectively) and glycemic control [12.9 % (117mmol/mol) vs. 11.7 % (104mmol/mol), P < 0.001], higher prevalence of diabetes condition in the male gender (64.4 % vs. 51.3 %, P = 0.006), higher proportion of obesity or overweight (24.6 % vs. 9.5 %, P = 0.002), higher frequency of GADA (33.7 % vs. 23.3 %, P = 0.025), and lower frequency of diabetic ketoacidosis at disease onset (64.5 % vs. 43.5 %, P < 0.001). Conclusions This population was characterized by poor overall blood glucose control, high prevalence of DKA, dyslipidemia and diabetic retinopathy, and low prevalence of islet-related antibodies, and overweight or obesity. Adult-onset patients with T1D were not uncommon and had better clinical manifestations than young-onset patients. Any findings related to body mass index (BMI) and autoantibodies should be considered strictly exploratory due to excessive missing data.

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Impact of Race and Socioeconomics Disparities on Survival in Young-Onset Colorectal Adenocarcinoma—A SEER Registry Analysis

Cancers ◽

10.3390/cancers13133262 ◽

2021 ◽

Vol 13 (13) ◽

pp. 3262

Author(s):

Mark M. Aloysius ◽

Hemant Goyal ◽

Niraj J. Shah ◽

Kumar Pallav ◽

Nimy John ◽

...

Keyword(s):

High School ◽

Marital Status ◽

Colorectal Adenocarcinoma ◽

Private Insurance ◽

School Education ◽

Cox Proportional Hazards Model ◽

High School Education ◽

Cancer Specific Survival ◽

Young Onset ◽

The Impact

Introduction: We aimed to assess the impact of socio-economic determinants of health (SEDH) on survival disparities within and between the ethnic groups of young-onset (<50 years age) colorectal adenocarcinoma patients. Patients and Methods: Surveillance, epidemiology, and end results (SEER) registry was used to identify colorectal adenocarcinoma patients aged between 25–49 years from 2012 and 2016. Survival analysis was performed using the Kaplan–Meir method. Cox proportional hazards model was used to determine the hazard effect of SEDH. American community survey (ACS) data 2012–2016 were used to analyze the impact of high school education, immigration status, poverty, household income, employment, marital status, and insurance type. Results: A total of 17,145 young-onset colorectal adenocarcinoma patients were studied. Hispanic (H) = 2874, Non-Hispanic American Indian/Alaskan Native (NHAIAN) = 164, Non-Hispanic Asian Pacific Islander (NHAPI) = 1676, Non-Hispanic black (NHB) = 2305, Non-Hispanic white (NHW) = 10,126. Overall cancer-specific survival was, at 5 years, 69 m. NHB (65.58 m) and NHAIAN (65.67 m) experienced worse survival compared with NHW (70.11 m), NHAPI (68.7), and H (68.31). High school education conferred improved cancer-specific survival significantly with NHAPI, NHB, and NHW but not with H and NHAIAN. Poverty lowered and high school education improved cancer-specific survival (CSS) in NHB, NHW, and NHAPI. Unemployment was associated with lowered CSS in H and NAPI. Lower income below the median negatively impacted survival among H, NHAPI NHB, and NHW. Recent immigration within the last 12 months lowered CSS survival in NHW. Commercial health insurance compared with government insurance conferred improved CSS in all groups. Conclusions: Survival disparities were found among all races with young-onset colorectal adenocarcinoma. The pattern of SEDH influencing survival was unique to each race. Overall higher income levels, high school education, private insurance, and marital status appeared to be independent factors conferring favorable survival found on multivariate analysis.

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