Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations

2021 ◽  
Author(s):  
Mingqiang Zhu ◽  
Yangxi Li ◽  
Guanping Dong ◽  
Xuefeng Chen ◽  
Ke Huang ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Wolfram Syndrome ◽  
Diabetic Patients ◽  
Insulin Deficiency ◽  
Patients With Diabetes ◽  
Mild Diabetes ◽  
Similar Phenotype ◽  
Systemic Disorder ◽  
Phenotypic Features

Objective: Recessive WFS1 mutations are known to cause Wolfram syndrome, a very rare systemic disorder. However, they were also found in non-syndromic diabetes in Han Chinese misdiagnosed with type 1 diabetes, a molecular cause that appears to be considerably more common than the fully expressed syndrome. We aimed to better define the incidence and clinical features of non-syndromic diabetes due to recessive WFS1 mutation. Design: We analyzed the genotype and phenotype of 320 consecutive incident Chinese pediatric diabetic patients diagnosed from 2016 to 2019 to search for non-syndromic diabetic cases due to recessive WFS1 mutation. Methods: A cohort of 105 pancreatic autoantibody-negative patients were recruited for exome sequencing. All patients tested positive for pathogenic diallelic WFS1 mutations were examined for phenotypic features (fundoscopy, audiogram, urine density). Results: We found three cases of non-syndromic diabetes due to recessive WFS1 mutations (incidence = 0.94% (95CI 0.25%-2.7%)). All three cases only had mild diabetes when diagnosed. All patients had well conserved fasting C-peptide when diagnosed but one of them progressed to T1D-like insulin deficiency. In addition, we found a fourth case with previously undetected features of Wolfram syndrome. Conclusions: Non-syndromic diabetes due to WFS1 mutation may be common among Chinese pediatric patients with diabetes. It is important to differentiate it from other MODY subtypes with similar phenotype by molecular diagnosis because of different prognosis and, potentially, therapy.

Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Eman Monir Sherif ◽  
Yasmine Ibrahim Elhenawy ◽  
Randa Mahmoud Matter ◽  
Hanan Hassan Aly ◽  
Rasha Adel Thabet ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Pediatric Patients ◽  
Surveillance Study ◽  
Single Center ◽  
Children And Adolescent ◽  
Mean Delay ◽  
Patients With Diabetes ◽  
Constant Feature ◽  
Inflammatory Syndrome

Abstract Objectives COVID-19 pandemic significantly impacted the diagnosis of type 1 diabetes and its acute complications. Thus, the study aimed to evaluate the characteristics of pediatric patients with type 1 diabetes hospitalized during the first wave of the pandemic and the prevalence of new onset diabetes among patients with evidence of COVID-19 infection. Methods A single-center surveillance study included all patients with diabetes admitted to Children’s Hospital, Ain Shams University, in Egypt between May to August 2020. Data were collected to evaluate patients’ clinical and laboratory characteristics as well as their outcomes. Results Thirty-six patients were admitted during the study period. The mean age was 8.4 ± 3.8 years. Patients presented late to the emergency department with a mean delay of 3.05 ± 1.19 days from onset of symptoms. 34/36 patients presented in diabetic ketoacidosis (DKA), 50% presenting in severe DKA. Almost 81% of the patients were newly diagnosed. During the study period, SARS-CoV-2 PCR was found positive in four patients, COVID Ig M antibodies were positive in another two patients; all were symptomatic requiring ICU admission. Four patients showed a picture suggestive of the multi-inflammatory syndrome (MIS-C); cardiac affection was a constant feature. Conclusions The pandemic affected both the prevalence and severity of DKA among pediatric patients. The increased prevalence of severe DKA could be partly related to delayed hospital admission or the effect of COVID-19 in triggering DKA. Efforts should be done to continuously raise awareness about diabetes in children as well as the importance of seeking timely medical guidance.

scholarly journals ECG Body Surface Mapping Changes in Type 1 Diabetic Patients with and without Autonomic Neuropathy

2010 ◽  
pp. 203-209
Author(s):  
S Palová ◽  
K Szabo ◽  
J Charvát ◽  
J Slavíček ◽  
E Medová ◽  
...  
Keyword(s):  
Autonomic Neuropathy ◽  
Body Surface ◽  
Diagnostic System ◽  
Diabetes Mellitus Type 1 ◽  
Diabetic Patients ◽  
Body Surface Mapping ◽  
Surface Mapping ◽  
Patients With Diabetes ◽  
Type 1 Diabetic Patients

ECG body surface mapping (BSM) parameters in patients with diabetes mellitus Type 1 (DM1) are significantly different comparing to healthy non-diabetic subjects. Hypothesis that these changes are more pronounced in DM1 patients with autonomic neuropathy (AN) was tested. The parameters of BSM were registered by diagnostic system Cardiag 112.2 in 54 DM1 patients including 25 with AN and 30 control subjects. AN was diagnosed according to Ewing criteria when two or more Ewing tests were abnormal. In classic 12-lead ECG the heart rate was increased, QRS and QT shortened (p<0.01) and QTC prolonged in DM1 patients. The VCG measurement of QRS-STT angles and spatial QRS-STT angle showed non-significant differences. The absolute values of maximum and minimum in depolarization and repolarization isopotential, isointegral, isoarea maps were significantly different in DM1 patients in comparison with controls (p<0.01). The changes were more pronounced in DM1 patients with AN than in DM patients without AN (p<0.05). The QT duration measured in 82 leads of thorax was significantly shortened in 68 leads of both groups of DM 1 patients (p<0.01) when compared with controls. In 34 of them this shortening was more pronounced in DM1 patients with AN than in DM1 patients without AN (p<0.05). The results showed that the method of ECG BSM is capable to confirm the presence of autonomic neuropathy in diabetic patients.

scholarly journals Volume rendered 3D OCTA assessment of macular ischemia in patients with type 1 diabetes and without diabetic retinopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Enrico Borrelli ◽  
Domenico Grosso ◽  
Mariacristina Parravano ◽  
Eliana Costanzo ◽  
Maria Brambati ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Diabetic Retinopathy ◽  
Healthy Subjects ◽  
Diabetic Group ◽  
Control Group ◽  
Diabetic Patients ◽  
Vascular Volume ◽  
Patients With Diabetes ◽  
Perfusion Density

AbstractThe aim of this study was to measure macular perfusion in patients with type 1 diabetes and no signs of diabetic retinopathy (DR) using volume rendered three-dimensional (3D) optical coherence tomography angiography (OCTA). We collected data from 35 patients with diabetes and no DR who had OCTA obtained. An additional control group of 35 eyes from 35 healthy subjects was included for comparison. OCTA volume data were processed with a previously presented algorithm in order to obtain the 3D vascular volume and 3D perfusion density. In order to weigh the contribution of different plexuses’ impairment to volume rendered vascular perfusion, OCTA en face images were binarized in order to obtain two-dimensional (2D) perfusion density metrics. Mean ± SD age was 27.2 ± 10.2 years [range 19–64 years] in the diabetic group and 31.0 ± 11.4 years [range 19–61 years] in the control group (p = 0.145). The 3D vascular volume was 0.27 ± 0.05 mm3 in the diabetic group and 0.29 ± 0.04 mm3 in the control group (p = 0.020). The 3D perfusion density was 9.3 ± 1.6% and 10.3 ± 1.6% in diabetic patients and controls, respectively (p = 0.005). Using a 2D visualization, the perfusion density was lower in diabetic patients, but only at the deep vascular complex (DVC) level (38.9 ± 3.7% in diabetes and 41.0 ± 3.1% in controls, p = 0.001), while no differences were detected at the superficial capillary plexus (SCP) level (34.4 ± 3.1% and 34.3 ± 3.8% in the diabetic and healthy subjects, respectively, p = 0.899). In conclusion, eyes without signs of DR of patients with diabetes have a reduced volume rendered macular perfusion compared to control healthy eyes.

scholarly journals Eye and renal complication in pediatric patients with diabetes mellitus type 1

2015 ◽  
Vol 2015 (S1) ◽  
Author(s):  
Nguyen Tran Ngoc Hieu ◽  
Bui PhuongThao ◽  
Vu Chi Dung ◽  
Nguyen Ngoc Khanh ◽  
Can Thi Bich Ngoc ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pediatric Patients ◽  
Diabetes Mellitus Type 1 ◽  
Diabetes Mellitus Type ◽  
Renal Complication ◽  
Patients With Diabetes

scholarly journals Plasma osteoprotegerin levels are associated with glycaemic status, systolic blood pressure, kidney function and cardiovascular morbidity in type 1 diabetic patients

2006 ◽  
Vol 154 (1) ◽  
pp. 75-81 ◽  
Author(s):  
Lars Melholt Rasmussen ◽  
Lise Tarnow ◽  
Troels Krarup Hansen ◽  
Hans-Henrik Parving ◽  
Allan Flyvbjerg
Keyword(s):  
Blood Pressure ◽  
Type 1 Diabetes ◽  
Systolic Blood Pressure ◽  
Kidney Function ◽  
Vascular Complications ◽  
Diabetic Patients ◽  
Diabetic Vascular Complications ◽  
Patients With Diabetes ◽  
Type 1 Diabetic Patients

Objective: The bone-related peptide osteoprotegerin (OPG) has recently been found in increased amounts in the vasculature in diabetes. It is produced by vascular smooth muscle and endothelial cells, and may be implicated in the development of vascular calcifications. OPG is present in the circulation, where increased amounts have been observed in patients with diabetes. In this study, we examined whether plasma OPG is associated with the glycaemic and vascular status of patients with type 1 diabetes. Methods: Two gender-, age- and duration-comparable groups of type 1 diabetic patients either with (n = 199) or without (n = 192) signs of diabetic nephropathy were studied. Plasma OPG was determined by an ELISA. Results: The plasma OPG concentration was significantly higher in patients with nephropathy than those without (3.11 (2.49–3.99) vs 2.57 (2.19–3.21) (median (interquartiles), ng/ml), P < 0.001). Plasma OPG correlated with haemoglobin A1c (HbA1c), systolic blood pressure and age in both groups and, in addition, with kidney function in the nephropathic group. These correlations remained significant in multivariate models. In addition, we found that plasma OPG concentrations were increased among patients with cardiovascular diseases (CVD), both in the normoalbuminuric and the nephropathic groups. The differences between nephropathic and normoalbuminuric, as well as subgroups with and without CVD, could largely be ascribed to changes in HbA1c, age, systolic blood pressure and creatinine. Conclusion: OPG is associated with glycaemic control and CVD in patients with type 1 diabetes, compatible with the hypothesis that OPG is associated with the development of diabetic vascular complications.

scholarly journals Peculiarities of Physical Activity and Self‑Esteem of Young People with Diabetes Mellitus Type 1 and Healthy Persons Aged 18–25 Years

2018 ◽  
Vol 4 (83) ◽  
Author(s):  
Sandrija Čapkauskienė ◽  
Daiva Vizbaraitė ◽  
Deimantė Šeštokaitė
Keyword(s):  
Physical Activity ◽  
Diabetes Mellitus ◽  
Healthy Subjects ◽  
Self Esteem ◽  
Diabetes Mellitus Type 1 ◽  
Diabetes Mellitus Type ◽  
Diabetic Patients ◽  
Patients With Diabetes ◽  
Healthy Persons

Research background and hypothesis. Careful diabetes control slows the onset and progression of life-threatening complications, the development of disability and early disability-related unemployment, and prolongs life expectancy (Danytė et al., 2000). The benefits of physical activity on regular basis comprise improved cardiovascular health, increased  lean body mass, improved  blood lipid profile, enhanced  psycho-social wellbeing and decreased obesity  (Riddell, Iscoe, 2006). Physical activity is one of the main factors influencing glucose level in diabetic patients’ blood (Wiśniewski, 2010). Analysis of self-esteem of the studied revealed a wide range of findings, from trying to outline the modest achievements, pride, and even unwillingness to discuss it to low self-esteem, feeling of guilt and self-reproach for mistakes and failures (Žemaitis, 1995). The aim of the study was to determine physical activity and self-esteem of healthy subjects and patients with diabetes mellitus type 1 aged 18–25 years.Methods. The  study  included  140  individuals  (aged  from  18  to  25  years). Among  41  patients  with  type  1 diabetes mellitus there were 33 young women and 8 young men, and among 99 healthy persons – 79 young women and  29 young men. All the subjects were asked to fill in the questionnaire orientated to physical activity and self-esteem. The short IPAQ questionnaire was used to research physical activity and Rosenberg’s Self-Esteem Scale was used to assess self esteem.Research results. Approximately 60% of subjects with  diabetes mellitus type 1 and about 50% of healthy persons rated their physical activity as moderate. Intensive 60-minute-physical activity was reported by 48.5% of healthy subjects and 34.1% of diabetic patients, moderate 60-minute-physical activity was pointed out by 38.2% of diabetic patients and 35.8% of healthy research participants. The largest walking interval was 1–1.5 hours: in the diabetic group– 28.8%, in the healthy group – 31.65%. Healthy young men and women were physically more active than diabetic patients. Self-esteem in both genders of healthy subjects and diabetic patients was determined as moderate.Discussion and conclusions. Physical activity of women and men with diabetes mellitus type 1 aged 18–25 years was valued as moderate, meanwhile physical activity in healthy persons – moderate or high. Self-esteem is moderate in both groups of patients with diabetes and healthy persons. Healthy men are more active than diabetic patients, similarly, women having diabetes mellitus type 1 are more physically passive than healthy ones. Both patients with diabetes mellitus type 1 and healthy individuals aged 18–25 reported moderate self-esteem.Keywords: diabetes mellitus type 1, physical activity, self-esteem.

scholarly journals High serum IgA concentrations in patients with diabetes mellitus: agewise distribution and relation to chronic complications

1996 ◽  
Vol 42 (7) ◽  
pp. 1064-1067 ◽  
Author(s):  
S Rodriguez-Segade ◽  
M F Camiña ◽  
A Carnero ◽  
M J Lorenzo ◽  
A Alban ◽  
...  
Keyword(s):  
Diabetic Complications ◽  
High Serum ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Chronic Complications ◽  
Serum Iga ◽  
Patients With Diabetes ◽  
Type 2 Diabetic

Abstract In this study we investigated the agewise distributions of serum IgA concentrations in 1251 type 1 and 2224 type 2 diabetic patients, and the association between serum IgA concentration and diabetic complications (retinopathy, neuropathy, nephropathy, macroangiopathy, and hypertension). The IgA concentrations of all groups of diabetic patients were significantly higher than those of the corresponding subgroups of 943 control subjects, except for type 1 patients &gt;60 years of age. High IgA concentrations were found in 23.1% of the whole diabetic group. The prevalence of high IgA was significantly greater in males than in females among type 1 patients (24.4% vs 18%). In conclusion, an increase in circulating IgA concentrations is a generalized phenomenon among diabetic patients; IgA concentrations above the reference range are more common among male than female diabetics; and diabetic complications are associated with a significant increase in serum IgA concentration.

scholarly journals Thyroid dysfunction in patients with diabetes mellitus at Puducherry, India: a retrospective study

2018 ◽  
Vol 5 (4) ◽  
pp. 822
Author(s):  
K. Shaik Anwar Hussain
Keyword(s):  
Diabetes Mellitus ◽  
Retrospective Study ◽  
Thyroid Dysfunction ◽  
Diabetic Patients ◽  
Type Ii ◽  
Patients With Diabetes ◽  
Study Participants ◽  
Type 1 Dm

Background: There is a complex interrelationship in the co-existence of thyroid dysfunction among diabetic patients and may be related to the development of cardiovascular diseases and other complications of long term metabolic derangements. The prevalence of thyroid dysfunction varies from 10 to 24% among diabetic patients. The objective of the present study was to determine the prevalence of thyroid dysfunction among the patients with diabetes mellitus in a tertiary care hospital at Puducherry, India.Methods: This retrospective study was conducted during June 2018 analysing the records of diabetes patients attending to the diabetes OPD, Department of General Medicine in the past one year and their association with thyroid dysfunction was studied.Results: Among the study participants (n=200), 14.5% (n=29) were Type I diabetics and 85.5% (n=171) were type II Diabetes patients. The prevalence of Thyroid Dysfunction (TD) among the study participants was 28.5% (n=57). The proportion of TD was higher among type 1 DM compared to type 2 (p<0.001).  The prevalence of subclinical hypothyroidism was more (n=7, 24.1%) among type 1DM compared to type II DM patients (p=0.05).Conclusions: There was a higher prevalence of TD among the diabetics. TD was more frequent among type 1 DM compared to Type 2 DM patients and the most frequent TD associated with diabetes was subclinical hypothyroidism.

Diabetes changes the outcome of tuberculosis?

2021 ◽  
Vol 9 (4) ◽  
pp. 1127
Author(s):  
Saurabh Kumar ◽  
Mukund Shyam Sarda ◽  
Ankit Dilip Bajaj ◽  
Ruchi Hitesh Pujara ◽  
Darshan Mehra
Keyword(s):  
Pulmonary Tuberculosis ◽  
Diabetes Type 2 ◽  
Diabetic Patients ◽  
Global Epidemic ◽  
Group I ◽  
Patients With Diabetes ◽  
Adolescents And Adults ◽  
Group Ii ◽  
Diabetes Gestational

Background: Diabetes has become a global epidemic affecting children, adolescents, and adults. It is recognized as a group of heterogeneous disorders with the common elements of hyperglycemia and glucose intolerance, due to insulin deficiency, impaired effectiveness of insulin action, or both. Diabetes mellitus (DM) is classified on the basis of etiology and clinical presentation of the disorder into four types: type 1 diabetes, type 2 diabetes, gestational diabetes, and other specific types. Failures, deaths, relapse rates and favorable outcomes (cured/treatment completed) were comparable in pulmonary tuberculosis (TB) patients with or without DM. It is also documented that in well-controlled diabetes the course of pulmonary tuberculosis is not different from that in patients without diabetes.Methods: Diabetic patients visiting the outpatient department/diabetic clinic of our facility were enrolled after taking written informed consent. The data on socio-demographic and diabetic parameters and examination findings were recorded on proforma as attached.Results: X-ray findings at start of treatment showed that proportion of patient of group I was higher than group II in left site (26.00% versus 8.00%) and proportion of patient of group II was higher than group I in right site (58.00% versus 48.00%) and bilateral (34.00% versus 26.00%), though left side was affected in higher proportion of group I patients as compared to group II but this difference was not found to be statistically significant.Conclusions: Our study concluded that even though the state in which patient presented that is diabetic or non-diabetic the outcome of treatment didn’t change but the earlier one was more associated with complications and also the healing took more time in patients with diabetes.

Diabetes Mellitus

2016 ◽  
pp. 157-164
Author(s):  
Ekta Kapoor
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Diabetic Patients ◽  
Insulin Deficiency ◽  
Autoimmune Destruction ◽  
Population Type ◽  
The Us ◽  
Insulin Dependent

Diabetes mellitus, characterized by increased levels of plasma glucose (fasting or postprandial or both), is the most common metabolic disorder, affecting approximately 10% of the US population. Type 1 diabetes mellitus (T1D), previously known as insulin-dependent diabetes mellitus, is caused by autoimmune destruction of insulin-producing beta cells of the pancreatic islets, resulting in an absolute insulin deficiency. About 10% of diabetic patients have T1D. It usually occurs in children or lean young adults, but T1D can develop at any age.

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