Clinical features, outcomes, and molecular characteristics of an outbreak of Staphylococcus haemolyticus infection, among a mass-burn casualty patient group, in a tertiary center in northern Taiwan

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.

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Clinical features and molecular characteristics of childhood community-associated methicillin-resistant Staphylococcus aureus infection in a medical center in northern Taiwan, 2012

BMC Infectious Diseases ◽

10.1186/s12879-017-2560-0 ◽

2017 ◽

Vol 17 (1) ◽

Cited By ~ 7

Author(s):

Hong-Kai Wang ◽

Chun-Yen Huang ◽

Yhu-Chering Huang

Keyword(s):

Staphylococcus Aureus ◽

Clinical Features ◽

Methicillin Resistant Staphylococcus Aureus ◽

Medical Center ◽

Molecular Characteristics ◽

Methicillin Resistant ◽

Aureus Infection ◽

Northern Taiwan

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

BMC Pediatrics ◽

10.1186/s12887-021-02575-6 ◽

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.

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Molecular characteristics and clinical features of pediatric methicillin-susceptible Staphylococcus aureus infection in a medical center in northern Taiwan

BMC Infectious Diseases ◽

10.1186/s12879-019-4033-0 ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 3

Author(s):

Yu-Jen Chen ◽

Po-An Chen ◽

Chih-Jung Chen ◽

Yhu-Chering Huang

Keyword(s):

Staphylococcus Aureus ◽

Clinical Features ◽

Medical Center ◽

Molecular Characteristics ◽

Aureus Infection ◽

Northern Taiwan

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

Diabetes ◽

10.2337/db18-260-lb ◽

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

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Clinical Features and Outcome of Sickle Cell Disease in a Tertiary Center in Northern Lebanon: A Retrospective Cohort Study in a Local, Hospital-Associated Registry

Hemoglobin ◽

10.1080/03630269.2021.1904974 ◽

2021 ◽

pp. 1-7

Author(s):

Adlette Inati ◽

Chadi Al Alam ◽

Cristel El Ojaimi ◽

Taghrid Hamad ◽

Hemanth Kanakamedala ◽

...

Keyword(s):

Cohort Study ◽

Sickle Cell Disease ◽

Clinical Features ◽

Sickle Cell ◽

Retrospective Cohort Study ◽

Retrospective Cohort ◽

Cell Disease ◽

Local Hospital ◽

Tertiary Center

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Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up

Medizinische Genetik ◽

10.1515/medgen-2021-2100 ◽

2021 ◽

Vol 33 (4) ◽

pp. 311-318

Author(s):

Lorenz Peters ◽

Christel Depienne ◽

Stephan Klebe

Keyword(s):

Clinical Features ◽

Neurological Disorders ◽

Genetic Disorder ◽

Repeat Expansion ◽

Myoclonic Epilepsy ◽

Molecular Characteristics ◽

Autosomal Dominant Disorder ◽

Repeat Expansions ◽

Diagnostic Work ◽

Work Up

Abstract Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3′ end and likely corresponds to the pathogenic part of the expansion. This repeat expansion has been identified so far in six genes located on different chromosomes, which remarkably encode proteins with distinct cellular localizations and functions. Although the exact pathophysiological mechanisms remain to be clarified, it is likely that FAME repeat expansions lead to disease independently of the gene where they occur. We herein review the clinical and molecular characteristics of this singular genetic disorder, which interestingly shares clinical features with other more common neurological disorders whose etiology remains mainly unsolved.

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Depressive symptoms in patients with epilepsy and clinically associated features in a single tertiary center

Neurological Sciences ◽

10.1007/s10072-021-05589-1 ◽

2021 ◽

Author(s):

Mariacarolina Vacca ◽

Mariana Fernandes ◽

Matteo Spanetta ◽

Fabio Placidi ◽

Francesca Izzi ◽

...

Keyword(s):

Depressive Symptoms ◽

Clinical Features ◽

Item Analysis ◽

Well Being ◽

Adult Patients ◽

Self Report ◽

Depression Severity ◽

Cross Sectional ◽

Tertiary Center ◽

Patients With Epilepsy

AbstractAlthough depressive symptoms are the most common psychiatric comorbidity in epilepsy, they remain underestimated and untreated in a large proportion of patients. The purpose of this study was to evaluate depression severity and related clinical features in people with epilepsy using a well-reliable self-report index of mood, the Beck Depression Inventory-II (BDI-II). One-hundred seventeen adult patients with epilepsy were recruited from a tertiary epilepsy center and completed the BDI-II. A single-item analysis of the 21 questions of the BDI-II was computed and differences between women and men in each depressive symptom were evaluated. Correlation and regression analyses were used to identify clinical features associated with the severity of depression. Results showed gender differences in some items, with women reporting overall higher depression severity than men. The most common symptoms regarded domains of sleeping patterns, tiredness, and loss of energy. Regression evidence suggested that being female, having an epilepsy duration < 10 years, as well as being treated with psychotropic drugs and reporting generalized seizure, were associated with higher depression severity. Despite its cross-sectional nature, this study reinforces the importance of investigating and possibly treating depressive symptoms in adult patients with epilepsy, since they negatively impact well-being, daytime activities, and sleep. Further studies identifying pharmacological and non-pharmacological treatments for depression in epilepsy need to be planned.

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