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 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.

Increased frequency of idiopathic central precocious puberty in girls during the COVID-19 pandemic: preliminary results of a tertiary center study

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Sezer Acar ◽  
Behzat Özkan
Keyword(s):  
Precocious Puberty ◽  
Clinical Characteristics ◽  
Laboratory Data ◽  
Central Precocious Puberty ◽  
Pediatric Endocrinology ◽  
Idiopathic Central Precocious Puberty ◽  
Tertiary Center ◽  
One Year ◽  
The One ◽  
Endocrinology Clinic

Abstract Objectives Recent studies have demonstrated an increase in the frequency of idiopathic central precocious puberty (CPP) during the severe acute respiratory syndrome coronavirus 2 (COVID-19) pandemic. We compared the demographic, anthropometric, and clinical characteristics of idiopathic CPP patients diagnosed during a one-year period of the COVID-19 pandemic with the characteristics of patients diagnosed during the same period in the previous three-years. Methods Demographic, clinical, anthropometric, and laboratory data of all patients diagnosed in our Pediatric Endocrinology clinic with idiopathic CPP during a one-year period of the COVID-19 pandemic (April 2020–March 2021) and a three-year period before the pandemic (April 2017–March 2020) were evaluated retrospectively. Results A total of 124 patients (124 girls, zero boys) diagnosed with idiopathic CPP were included in this study. Sixty-six patients in the three-year period before the COVID-19 pandemic (April 2017–March 2020) and 58 patients (46.8%) in the one-year period during the COVID-19 pandemic period (April 2020–March 2021) were diagnosed with idiopathic CPP. Conclusions This study’s findings suggest that the number of girls diagnosed with idiopathic CPP during the one-year study period during the pandemic was more than double that of any of the previous three-years.

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

2017 ◽  
Vol 126 (10) ◽  
pp. 612-618 ◽  
Author(s):  
Zeynep Şıklar ◽  
Elisa de Franco ◽  
Matthew Johnson ◽  
Sarah Flanagan ◽  
Sian Ellard ◽  
...  
Keyword(s):  
Immune System ◽  
Beta Cells ◽  
Age Of Onset ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Pediatric Endocrinology ◽  
Immune System Dysfunction ◽  
Heterogenous Group ◽  
Type 1 Dm

AbstractMonogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study. Thirteen patients were diagnosed with monogenic diabetes in Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey. Five of them were diagnosed after 6 months of age. Five had a KATP channel defect. Mutations in genes resulting in destruction of beta cells were detected in 7 patients, with 4 cases having a WFS, 2 an LRBA, and one a IL2RA mutation. Additional systemic findings were seen in 6/13 patients, with 5/6 having severe immune system dysfunction. Treatment with sulphonylurea was successful in two patients.. The other patients were given insulin in differing doses. Four patients died during follow-up, three of which had immune system dysfunction. Monogenic diabetes can be diagnosed after 6 months of age, even with positive autoantibodies. Immune dysfunction was a common feature in our cohort and should be investigated in all patients with early-onset monogenic diabetes. Mortality of patients with monogenic diabetes and additional autoimmunity was high in our cohort and is likely to reflect the multisystem nature of these diseases.

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 Clinical features and outcomes of COVID-19 in older adults: a systematic review and meta-analysis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sunny Singhal ◽  
Pramod Kumar ◽  
Sumitabh Singh ◽  
Srishti Saha ◽  
Aparajit Ballav Dey
Keyword(s):  
Systematic Review ◽  
Older Adults ◽  
Critically Ill ◽  
Clinical Features ◽  
Older Patients ◽  
Clinical Characteristics ◽  
Meta Analysis ◽  
Severe Infection ◽  
Factors Affecting ◽  
Pooled Prevalence

Abstract Background Few studies have focused on exploring the clinical characteristics and outcomes of COVID-19 in older patients. We conducted this systematic review and meta-analysis to have a better understanding of the clinical characteristics of older COVID-19 patients. Methods A systematic search of PubMed and Scopus was performed from December 2019 to May 3rd, 2020. Observational studies including older adults (age ≥ 60 years) with COVID-19 infection and reporting clinical characteristics or outcome were included. Primary outcome was assessing weighted pooled prevalence (WPP) of severity and outcomes. Secondary outcomes were clinical features including comorbidities and need of respiratory support. Result Forty-six studies with 13,624 older patients were included. Severe infection was seen in 51% (95% CI– 36-65%, I2–95%) patients while 22% (95% CI– 16-28%, I2–88%) were critically ill. Overall, 11% (95% CI– 5-21%, I2–98%) patients died. The common comorbidities were hypertension (48, 95% CI– 36-60% I2–92%), diabetes mellitus (22, 95% CI– 13-32%, I2–86%) and cardiovascular disease (19, 95% CI – 11-28%, I2–85%). Common symptoms were fever (83, 95% CI– 66-97%, I2–91%), cough (60, 95% CI– 50-70%, I2–71%) and dyspnoea (42, 95% CI– 19-67%, I2–94%). Overall, 84% (95% CI– 60-100%, I2–81%) required oxygen support and 21% (95% CI– 0-49%, I2–91%) required mechanical ventilation. Majority of studies had medium to high risk of bias and overall quality of evidence was low for all outcomes. Conclusion Approximately half of older patients with COVID-19 have severe infection, one in five are critically ill and one in ten die. More high-quality evidence is needed to study outcomes in this vulnerable patient population and factors affecting these outcomes.

scholarly journals Clinical characteristics of inpatients with coronavirus disease 2019 (COVID-19) in Sichuan province

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wen Wang ◽  
Lei Chen ◽  
Qiao He ◽  
Mingqi Wang ◽  
Mei Liu ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Clinical Features ◽  
Medical Records ◽  
Clinical Characteristics ◽  
Sichuan Province ◽  
Chest Ct ◽  
Shortness Of Breath ◽  
Course Of Disease ◽  
West China ◽  
Radiologic Abnormality

Abstract Background The outbreak of COVID-19 has resulted in serious concerns in China and abroad. To investigate clinical features of confirmed and suspected patients with COVID-19 in west China, and to examine differences between severe versus non-severe patients. Methods Patients admitted for COVID-19 between January 21 and February 11 from fifteen hospitals in Sichuan Province, China were included. Experienced clinicians trained with methods abstracted data from medical records using pre-defined, pilot-tested forms. Clinical characteristics between severe and non-severe patients were compared. Results Of the 169 patients included, 147 were laboratory-confirmed, 22 were suspected. For confirmed cases, the most common symptoms from onset to admission were cough (70·7%), fever (70·5%) and sputum (33·3%), and the most common chest CT patterns were patchy or stripes shadowing (78·0%); throughout the course of disease, 19·0% had no fever, and 12·4% had no radiologic abnormality; twelve (8·2%) received mechanical ventilation, four (2·7%) were transferred to ICU, and no death occurred. Compared to non-severe cases, severe ones were more likely to have underlying comorbidities (62·5% vs 26·2%, P = 0·001), to present with cough (92·0% vs 66·4%, P = 0·02), sputum (60·0% vs 27·9%, P = 0·004) and shortness of breath (40·0% vs 8·2%, P <  0·0001), and to have more frequent lymphopenia (79·2% vs 43·7%, P = 0·003) and eosinopenia (84·2% vs 57·0%, P = 0·046). Conclusions The symptoms of patients in west China were relatively mild, and an appreciable proportion of infected cases had no fever, warranting special attention.

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