scholarly journals Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ja Hye Kim ◽  
Yena Lee ◽  
Yunha Choi ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Characteristics ◽  
Neonatal Diabetes ◽  
Wolfram Syndrome ◽  
Monogenic Diabetes ◽  
Molecular Characteristics ◽  
Academic Center ◽  
Pediatric Diabetes ◽  
Tertiary Center ◽  
Patients With Diabetes

Abstract Background The prevalence of monogenic diabetes is estimated to be 1.1–6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, who presented at a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019 in Korea. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients suspected to have monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounted for 5.1% of patients evaluated at a single tertiary center over 20-year period. Based on the findings for our sample, the frequency of mutations in the major genes of MODY appears to be low among pediatric patients in Korea. It is critical to identify the genetic cause of DM to provide appropriate therapeutic options and genetic counseling.

scholarly journals Etiologic spectrum and clinical characteristics of pediatric diabetes among 276 children and adolescents with diabetes in a single academic center

2020 ◽  
Author(s):  
Ja Hye Kim ◽  
Yena Lee ◽  
Yunha Choi ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Characteristics ◽  
Neonatal Diabetes ◽  
Wolfram Syndrome ◽  
Monogenic Diabetes ◽  
Molecular Characteristics ◽  
Pediatric Endocrinology ◽  
Academic Center ◽  
Pediatric Diabetes ◽  
Tertiary Center

Abstract Background The prevalence of monogenic diabetes is estimated to be 1–5% of patients with diabetes mellitus (DM). The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, in a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients with suspected monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, IPEX syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounts for 5.1% of patients referred to pediatric endocrinology clinics. The frequency of mutations in the major genes of MODY is low among pediatric patients in Korea. Identification of the genetic cause of DM is critical to provide appropriate therapeutic options and genetic counseling.

scholarly journals Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 117
Author(s):  
Antonella Marucci ◽  
Irene Rutigliano ◽  
Grazia Fini ◽  
Serena Pezzilli ◽  
Claudia Menzaghi ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Precision Medicine ◽  
Genetic Disorder ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Maturity Onset Diabetes ◽  
Patients With Diabetes ◽  
Clinical Strategy

Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and syndromic diabetes, affecting 1–5% of patients with diabetes. Some of these variants are harbored by genes whose altered function can be tackled by specific actions (“actionable genes”). In suspected patients, molecular diagnosis allows the implementation of effective approaches of precision medicine so as to allow individual interventions aimed to prevent, mitigate or delay clinical outcomes. This review will almost exclusively concentrate on the clinical strategy that can be specifically pursued in carriers of mutations in “actionable genes”, including ABCC8, KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PPARG, GATA4 and GATA6. For each of them we will provide a short background on what is known about gene function and dysfunction. Then, we will discuss how the identification of their mutations in individuals with this form of diabetes, can be used in daily clinical practice to implement specific monitoring and treatments. We hope this article will help clinical diabetologists carefully consider who of their patients deserves timely genetic testing for monogenic diabetes.

Clinical Features and Hepatic Molecular Characteristics in NAFLD and NASH Patients Compared to Normal Weight Healthy Individuals

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 260-LB
Author(s):  
MALTE P. SUPPLI ◽  
KRISTOFFER RIGBOLT ◽  
SANNE VEIDAL ◽  
SARA HEEBØLL ◽  
MIA DEMANT ◽  
...  
Keyword(s):  
Clinical Features ◽  
Normal Weight ◽  
Molecular Characteristics ◽  
Healthy Individuals

Ketamine Treatment in Depression: A Systematic Review of Clinical Characteristics Predicting Symptom Improvement

2020 ◽  
Vol 20 (15) ◽  
pp. 1398-1414 ◽  
Author(s):  
Darby J.E. Lowe ◽  
Daniel J. Müller ◽  
Tony P. George
Keyword(s):  
Clinical Features ◽  
Clinical Characteristics ◽  
Bipolar Depression ◽  
Antidepressant Effect ◽  
Future Research ◽  
Symptom Improvement ◽  
Randomized Controlled ◽  
Treatment Of Depression ◽  
Future Direction

Ketamine has been shown to be efficacious for the treatment of depression, specifically among individuals who do not respond to first-line treatments. There is still, however, a lack of clarity surrounding the clinical features and response periods across samples that respond to ketamine. This paper systematically reviews published randomized controlled trials that investigate ketamine as an antidepressant intervention in both unipolar and bipolar depression to determine the specific clinical features of the samples across different efficacy periods. Moreover, similarities and differences in clinical characteristics associated with acute versus longer-term drug response are discussed. Similarities across all samples suggest that the population that responds to ketamine’s antidepressant effect has experienced chronic, long-term depression, approaching ketamine treatment as a “last resort”. Moreover, differences between these groups suggest future research to investigate the potential of stronger efficacy towards depression in the context of bipolar disorder compared to major depression, and in participants who undergo antidepressant washout before ketamine administration. From these findings, suggestions for the future direction of ketamine research for depression are formed.

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

2020 ◽  
Vol 16 (8) ◽  
pp. 807-819 ◽  
Author(s):  
Madalena Sousa ◽  
Jácome Bruges-Armas
Keyword(s):  
Diabetes Mellitus ◽  
Complex Disease ◽  
Clinical Manifestations ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Diabetes Genetics ◽  
Individualize Treatment

Background: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. Methods: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. Results: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic. Discussion: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Conclusion: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.

Acute Colonic Diverticulitis: Diagnostic Evidence, Demographic and Clinical Features in ree Practice Settings

2014 ◽  
Vol 23 (4) ◽  
pp. 379-386 ◽  
Author(s):  
Rajan Iyer ◽  
George F. Longstreth ◽  
Li-Hao Chu ◽  
Wansu Chen ◽  
Linnette Yen ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Emergency Department ◽  
Clinical Features ◽  
Clinical Characteristics ◽  
Past History ◽  
Colonic Diverticulitis ◽  
Co Morbidity ◽  
Objective Evidence ◽  
Multiple Variables ◽  
Acute Colonic Diverticulitis

Background & Aims: Diverticulitis is often diagnosed in outpatients, yet little evidence exists on diagnostic evidence and demographic/clinical features in various practice settings. We assessed variation in clinical characteristics and diagnostic evidence in inpatients, outpatients, and emergency department cases and effects of demographic and clinical variables on presentation features.Methods: In a retrospective cohort study of 1749 patients in an integrated health care system, we compared presenting features and computed tomography findings by practice setting and assessed independent effects of demographic and clinical factors on presenting features.Results: Inpatients were older and more often underweight/normal weight and lacked a diverticulitis past history and had more comorbidities than other patients. Outpatients were most often Hispanic/Latino. The classical triad (abdominal pain, fever, leukocytosis) occurred in 78 (38.6%) inpatients, 29 (5.2%) outpatients and 34 (10.7%) emergency department cases. Computed tomography was performed on 196 (94.4%) inpatients, 110 (9.2%) outpatients and 296 (87.6%) emergency department cases and was diagnostic in 153 (78.6%) inpatients, 62 (56.4%) outpatients and 243 (82.1%) emergency department cases. Multiple variables affected presenting features. Notably, female sex had lower odds for the presence of the triad features (odds ratio [95% CI], 0.65 [0.45-0.94], P<0.05) and increased odds of vomiting (1.78 [1.26-2.53], P<0.01). Patients in age group 56 to 65 and 66 or older had decreased odds of fever (0.67 [0.46-0.98], P<0.05) and 0.46 [0.26-0.81], P<0.01), respectively, while ≥1 co-morbidity increased the odds of observing the triad (1.88 [1.26-2.81], P<0.01).Conclusion: There was little objective evidence for physician-diagnosed diverticulitis in most outpatients. Demographic and clinical characteristics vary among settings and independently affect presenting features.Abbreviations: AD: acute colonic diverticulitis; BMI: body mass index; CT: computed tomography; ED: emergency department; IBS: irritable bowel syndrome; ICD-9-CM: International Classification of Diseases, 9th Revision, Clinical Modification; IP: inpatient; KPSC: Kaiser Permanente Southern California; OP: outpatient.

scholarly journals When Uncontrolled Diabetes Mellitus and Severe COVID-19 Converge: The Perfect Storm for Mucormycosis

2021 ◽  
Vol 7 (4) ◽  
pp. 298
Author(s):  
Teny M. John ◽  
Ceena N. Jacob ◽  
Dimitrios P. Kontoyiannis
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Clinical Features ◽  
The Other ◽  
Diabetic Patients ◽  
Epidemiological Factors ◽  
Uncontrolled Diabetes ◽  
Diagnostic Certainty ◽  
Patients With Diabetes ◽  
Perfect Storm

Mucormycosis (MCR) has been increasingly described in patients with coronavirus disease 2019 (COVID-19) but the epidemiological factors, presentation, diagnostic certainty, and outcome of such patients are not well described. We review the published COVID-19-associated mucormycosis (CAMCR) cases (total 41) to identify risk factors, clinical features, and outcomes. CAMCR was typically seen in patients with diabetes mellitus (DM) (94%) especially the ones with poorly controlled DM (67%) and severe or critical COVID-19 (95%). Its presentation was typical of MCR seen in diabetic patients (mostly rhino-orbital and rhino-orbital-cerebral presentation). In sharp contrast to reported COVID-associated aspergillosis (CAPA) cases, nearly all CAMCR infections were proven (93%). Treating physicians should have a high suspicion for CAMCR in patients with uncontrolled diabetes mellitus and severe COVID-19 presenting with rhino-orbital or rhino-cerebral syndromes. CAMR is the convergence of two storms, one of DM and the other of COVID-19.

scholarly journals Healing below the ankle is possible in patients with diabetes mellitus and a forefoot gangrene

2021 ◽  
Vol 9 ◽  
pp. 205031212110291
Author(s):  
Targ Elgzyri ◽  
Jan Apelqvist ◽  
Eero Lindholm ◽  
Hedvig Örneholm ◽  
Magdalena Annersten Gershater
Keyword(s):  
Diabetic Foot ◽  
Clinical Characteristics ◽  
Foot Ulcer ◽  
Major Amputation ◽  
Severe Form ◽  
Foot Ulcers ◽  
Vascular Intervention ◽  
Co Morbidity ◽  
Patients With Diabetes

Background: Forefoot gangrene in patients with diabetes is a severe form of foot ulcers with risk of progress and major amputation. No large cohort studies have examined clinical characteristics and outcome of forefoot gangrene in patients with diabetes. The aim was to examine clinical characteristics and outcome of forefoot gangrene in patients with diabetes admitted to a diabetic foot centre. Methods: Patients with diabetes and foot ulcer consecutively presenting were included if they had forefoot gangrene (Wagner grade 4) at initial visit or developed forefoot gangrene during follow-up at diabetic foot centre. Patients were prospectively followed up until final outcome, either healing or death. The median follow-up period until healing was 41 (3–234) weeks. Results: Four hundred and seventy-six patients were included. The median age was 73 (35–95) years and 63% were males. Of the patients, 82% had cardiovascular disease and 16% had diabetic nephropathy. Vascular intervention was performed in 64%. Fifty-one patients (17% of surviving patients) healed after auto-amputation, 150 after minor amputation (48% of surviving patients), 103 had major amputation (33% of surviving patients) and 162 patients deceased unhealed. Ten patients were lost at follow-up. The median time to healing for all surviving patients was 41 (3–234) weeks; for auto-amputated, 48 (10–228) weeks; for minor amputated, 48 (6–234) weeks; and for major amputation, 32 (3–116) weeks. Conclusion: Healing without major amputation is possible in a large proportion of patients with diabetes and forefoot gangrene, despite these patients being elderly and with extensive co-morbidity.

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