scholarly journals Personalized Medicine in Diabetes

2011 ◽  
Vol 57 (2) ◽  
pp. 231-240 ◽  
Author(s):  
Noemi Malandrino ◽  
Robert J Smith
Keyword(s):  
Diabetes Complications ◽  
Treatment Strategies ◽  
Molecular Characteristics ◽  
Molecular Determinants ◽  
Treatment Of Diabetes ◽  
Monogenic Forms Of Diabetes ◽  
Personalized Approach

BACKGROUND Multiple genes that are associated with the risk of developing diabetes or the risk of diabetes complications have been identified by candidate gene analysis and genomewide scanning. These molecular markers, together with clinical data and findings from proteomics, metabolomics, pharmacogenetics, and other methods, lead to a consideration of the extent to which personalized approaches can be applied to the treatment of diabetes mellitus. CONTENT Known genes that cause monogenic subtypes of diabetes are reviewed, and several examples are discussed in which the genotype of an individual with diabetes can direct considerations of preferred choices for glycemic therapy. The extent of characterization of polygenic determinants of type 1 and type 2 diabetes is summarized, and the potential for using this information in personalized management of glycemia and complications in diabetes is discussed. The application and current limitations of proteomic and metabolomic methods in elucidating diabetes heterogeneity is reviewed. SUMMARY There is established heterogeneity in the determinants of diabetes and the risk of diabetes complications. Understanding the basis of this heterogeneity provides an opportunity for personalizing prevention and treatment strategies according to individual patient clinical and molecular characteristics. There is evidence-based support for benefits from a personalized approach to diabetes care in patients with certain monogenic forms of diabetes. It is anticipated that strategies for individualized treatment decisions in the more common forms of diabetes will emerge with expanding knowledge of polygenic factors and other molecular determinants of disease.

The TUDID Study – Background and Design of a Prospective Cohort

2020 ◽  
Author(s):  
Benjamin Assad Jaghutriz ◽  
Robert Wagner ◽  
Stephanie Kullmann ◽  
Louise Fritsche ◽  
Sabine S. Eckstein ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Laboratory Tests ◽  
Diabetes Complications ◽  
Treatment Options ◽  
University Hospital ◽  
Tailored Treatment ◽  
The Individual

AbstractPrevalence of both type 1 and type 2 diabetes mellitus is growing worldwide and one major cause for morbidity and mortality. However, not every patient develops diabetes-related complications, but causes for the individual susceptibility are still not fully understood. As a platform to address this, we initiated the TUDID (TUebingen DIabetes Database) study, a prospective, monocentric, observational study that includes adults with diabetes mellitus who are treated in the inpatient clinic of a University Hospital in southern Germany. Besides a thorough clinical examination and extensive laboratory tests (with integrated biobanking), major study focuses are the kidneys, the eyes, the vasculature as well as cognition and mood where standardized investigations for early stages for diabetes complications are performed. Analyses of the data generated by this precise characterization of diabetes-related complications will contribute to our understanding of the development and course of such complications, and thus facilitate the implementation of tailored treatment options that can reduce the risk and severity of diabetes-related complications.

scholarly journals Molecular Detection and Characterization of Mycoplasma pneumoniae Among Patients Hospitalized With Community-Acquired Pneumonia in the United States

2015 ◽  
Vol 2 (3) ◽  
Author(s):  
Maureen H. Diaz ◽  
Alvaro J. Benitez ◽  
Kristen E. Cross ◽  
Lauri A. Hicks ◽  
Preeta Kutty ◽  
...  
Keyword(s):  
United States ◽  
Mycoplasma Pneumoniae ◽  
Variable Number Tandem Repeat ◽  
The United States ◽  
Variable Number ◽  
Community Acquired Pneumonia ◽  
Molecular Characteristics

Abstract Background.  Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP). The molecular characteristics of M pneumoniae detected in patients hospitalized with CAP in the United States are poorly described. Methods.  We performed molecular characterization of M pneumoniae in nasopharyngeal/oropharyngeal swabs from children and adults hospitalized with CAP in the Centers for Disease Control and Prevention Etiology of Pneumonia in the Community (EPIC) study, including P1 typing, multilocus variable-number tandem-repeat analysis (MLVA), and macrolide susceptibility genotyping. Results.  Of 216 M pneumoniae polymerase chain reaction-positive specimens, 40 (18.5%) were obtained from adults and 176 (81.5%) from children. P1 type distribution differed between adults (64% type 1 and 36% type 2) and children (84% type 1, 13% type 2, and 3% variant) (P < .05) and among sites (P < .01). Significant differences in the proportions of MLVA types 4/5/7/2 and 3/5/6/2 were also observed by age group (P < .01) and site (P < .01). A macrolide-resistant genotype was ide.jpegied in 7 (3.5%) specimens, 5 of which were from patients who had recently received macrolide therapy. No significant differences in clinical characteristics were ide.jpegied among patients with various strain types or between macrolide-resistant and -sensitive M pneumoniae infections. Conclusions.  The P1 type 1 genotype and MLVA type 4/5/7/2 predominated, but there were differences between children and adults and among sites. Macrolide resistance was rare. Differences in strain types did not appear to be associated with differences in clinical outcomes. Whole genome sequencing of M pneumoniae may help ide.jpegy better ways to characterize strains.

Characterization of damage and biotic factors associated with the decline of Eucalyptus wandoo in southwest Western Australia

2005 ◽  
Vol 35 (11) ◽  
pp. 2589-2602 ◽  
Author(s):  
Ryan J Hooper ◽  
K Sivasithamparam
Keyword(s):  
Western Australia ◽  
Partial Harvest ◽  
Foliage Density ◽  
Density Ratios ◽  
The Relationship ◽  
Mixed Age ◽  
Eucalyptus Wandoo

Crown decline of wandoo, Eucalyptus wandoo, in southwest Western Australia has escalated over the last 10 years, so very few unaffected stands remain. To assess the canopy-damage characteristics of trees in decline a destructive, partial-harvest method was used to sample branches in natural mixed-age stands. Necrosis of common cankers was closely associated with type-1 borer damage, characterized by "longitudinal" gallery structure on declining trees only. Cankers were found to be consistently more severe on declining trees, with decay regions affecting a greater proportion of sapwood tissue. Several infestations causing type-1 borer damage that varied in age were found on declining branches, providing evidence of cyclical damage events. Type-2 borer damage characterized by "ring-barking" gallery structure caused extensive damage in canopies, but was not always associated with decline. Interactions between foliage density and canker score showed that 17.8% and 63.1% of the variability in foliage-density ratios was accounted for in declining intermediate-health and unhealthy classes, respectively. The relationship was negligible for the healthy class (9.9%), providing strong evidence that cankers are causing foliage loss in declining canopies. Evidence suggests that an interaction between type-1 borer infestations and decay-causing fungi is responsible for the decline in E. wandoo wandoo canopies.

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

Diagnosis and Treatment of MODY: An Updated Mini Review

2021 ◽  
Vol 11 (20) ◽  
pp. 9436
Author(s):  
Abegail Tshivhase ◽  
Tandi Matsha ◽  
Shanel Raghubeer
Keyword(s):  
Type 2 Diabetes ◽  
Single Gene ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Endogenous Insulin ◽  
Appropriate Treatment ◽  
Mild Hyperglycemia ◽  
Onset Of Diabetes

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence.

Hypersomnolence Disorders

2020 ◽  
pp. 134-157
Author(s):  
Sulaiman Alhifzi ◽  
Nevin Zaki ◽  
Aljohara S. Almeneesier ◽  
Ahmed S. BaHammam
Keyword(s):  
Substance Use ◽  
Psychiatric Disorder ◽  
Treatment Strategies ◽  
Classification Systems ◽  
Common Symptom ◽  
Clinical Investigations ◽  
Idiopathic Hypersomnia ◽  
Multiple Sleep Latency

Despite varied classification systems, hypersomnolence disorders (or central disorders of hypersomnolence) are a group of disorders with a common symptom of excessive daytime sleepiness. In addition to a thorough clinical interview and examination, the assessment of hypersomnolence may require clinical investigations such as polysomnography and the multiple sleep latency test. This chapter examines the disorders of hypersomnolence with an emphasis on their clinical features and treatment strategies. The authors discuss the four main types of hypersomnolence disorders, narcolepsy type 1, narcolepsy type 2, idiopathic hypersomnia and Kleine–Levin syndrome, as well as hypersomnia due to a medical disorder, medication, or substance use; a psychiatric disorder; and insufficient sleep syndrome. It also discusses the relationships between hypersomnolence and psychiatric disorders.

scholarly journals The Blue Copper-Containing Nitrite Reductase fromAlcaligenes xylosoxidans: Cloning of the nirAGene and Characterization of the Recombinant Enzyme

1999 ◽  
Vol 181 (8) ◽  
pp. 2323-2329 ◽  
Author(s):  
Miguel Prudêncio ◽  
Robert R. Eady ◽  
Gary Sawers
Keyword(s):  
Amino Acid ◽  
Nitrite Reductase ◽  
Recombinant Enzyme ◽  
Leader Peptide ◽  
Resonance Spectroscopy ◽  
Gene Encoding ◽  
Blue Copper

ABSTRACT The nirA gene encoding the blue dissimilatory nitrite reductase from Alcaligenes xylosoxidans has been cloned and sequenced. To our knowledge, this is the first report of the characterization of a gene encoding a blue copper-containing nitrite reductase. The deduced amino acid sequence exhibits a high degree of similarity to other copper-containing nitrite reductases from various bacterial sources. The full-length protein included a 24-amino-acid leader peptide. The nirA gene was overexpressed inEscherichia coli and was shown to be exported to the periplasm. Purification was achieved in a single step, and analysis of the recombinant Nir enzyme revealed that cleavage of the signal peptide occurred at a position identical to that for the native enzyme isolated from A. xylosoxidans. The recombinant Nir isolated directly was blue and trimeric and, on the basis of electron paramagnetic resonance spectroscopy and metal analysis, possessed only type 1 copper centers. This type 2-depleted enzyme preparation also had a low nitrite reductase enzyme activity. Incubation of the periplasmic fraction with copper sulfate prior to purification resulted in the isolation of an enzyme with a full complement of type 1 and type 2 copper centers and a high specific activity. The kinetic properties of the recombinant enzyme were indistinguishable from those of the native nitrite reductase isolated from A. xylosoxidans. This rapid isolation procedure will greatly facilitate genetic and biochemical characterization of both wild-type and mutant derivatives of this protein.

scholarly journals Gut microbiota imbalances in Tunisian participants with type 1 and type 2 diabetes mellitus

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Meriem Fassatoui ◽  
Mireia Lopez-Siles ◽  
Diana A. Díaz-Rizzolo ◽  
Haifa Jmel ◽  
Chokri Naouali ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Multivariate Analysis ◽  
Gut Microbiota ◽  
Glycated Hemoglobin ◽  
Statistical Tests ◽  
Treatment Of Diabetes

Abstract Gut microbiota plays an important role in the regulation of the immune system and host’s metabolism. We aimed to characterize the gut microbiota of Tunisian participants with and without diabetes. We enrolled ten participants with type 1 diabetes mellitus (T1DM), ten patients with type 2 diabetes mellitus (T2DM), and 11 subjects without diabetes. Bacteria was quantified in fecal samples by quantitative PCR (qPCR). Statistical tests and multivariate analysis were performed using RStudio program. Results showed that the proportions of Firmicutes, Akkermansia muciniphila, and Faecalibacterium prausnitzii (P≤0.041), as well as, the ratio Firmicutes/Bacteroidetes decreased in participants with T1DM compared with those without diabetes (p = 0.036). Participants with T2DM presented a reduction in the amounts of A. muciniphila and F. prausnitzii compared with those without diabetes (P≤0.036). Furthermore, A muciniphila is negatively correlated with glucose level (P=0.022) and glycated hemoglobin (HbA1c) (P=0.035). Multivariate analysis revealed that participants with diabetes formed a cluster apart compared with those without diabetes. In conclusion the gut bacteria of Tunisian participants with diabetes was altered. The gut bacterial profile, especially the distribution of A muciniphila in participants with diabetes was affected by glycemic dysregulation. The investigation of the gut microbiota may help clinicians to improve diagnosis and treatment of diabetes and its complications.

scholarly journals Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine

2019 ◽  
Vol 40 (6) ◽  
pp. 1500-1520 ◽  
Author(s):  
Miriam S Udler ◽  
Mark I McCarthy ◽  
Jose C Florez ◽  
Anubha Mahajan
Keyword(s):  
Risk Scores ◽  
Diabetes Diagnosis ◽  
Physiological Mechanisms ◽  
Risk Variants ◽  
Polygenic Scores ◽  
Disease Predisposition ◽  
Dna Sequence Variants

Abstract During the last decade, there have been substantial advances in the identification and characterization of DNA sequence variants associated with individual predisposition to type 1 and type 2 diabetes. As well as providing insights into the molecular, cellular, and physiological mechanisms involved in disease pathogenesis, these risk variants, when combined into a polygenic score, capture information on individual patterns of disease predisposition that have the potential to influence clinical management. In this review, we describe the various opportunities that polygenic scores provide: to predict diabetes risk, to support differential diagnosis, and to understand phenotypic and clinical heterogeneity. We also describe the challenges that will need to be overcome if this potential is to be fully realized.

Overestimation of Risk and Increased Fear of Long-term Complications of Diabetes in People with Type 1 and 2 Diabetes

2019 ◽  
Vol 127 (10) ◽  
pp. 645-652 ◽  
Author(s):  
Florian Arend ◽  
Ulrich A. Müller ◽  
Andreas Schmitt ◽  
Margarete Voigt ◽  
Nadine Kuniss
Keyword(s):  
Diabetes Complications ◽  
Metabolic Diseases ◽  
Population Based ◽  
Diabetes Type ◽  
Complications Of Diabetes ◽  
Personal Risk ◽  
Disease Management Programmes

AbstrAct Objective The quality report of the disease management programmes of North Rhine Westphalia 2016 showed prevalences for long-term complications (neuropathy, nephropathy, retinopathy) of less than 30% for people with diabetes type 1 (DM1) and type 2 (DM2). The aim of this study was to assess risk expectations and fear regarding long-term complications of diabetes in people with DM1 and DM2. Methods We assessed risk expectations and fear regarding diabetes complications in people with DM1 (n=110) and DM2 (n=143 without insulin, n=249 with insulin) visiting an University outpatient department of metabolic diseases. Fear of long-term complications was measured with the “Fear of Complications Questionnaire (FCQ)” (range 0–45 points, scores ≥30 suggest elevated fear). Participants were asked to estimate general and personal risks of long-term complications 10 years after developing diabetes in %. Results Elevated fear of complications (FCQ scores ≥30) was observed in 34.5, 25.9, and 43.0% of those with DM1, DM2 without insulin and DM2 with insulin, respectively. Participants estimated a mean general risk of diabetes-related complications after 10 years amounting to 45.9±15.8% (DM1), 49.7±15.4% (DM2 without insulin), and 52.5±16.4% (DM2 with insulin) and personal risk with 52.5±24.4% (DM1), 45.8±22.7% (DM2 without insulin), and 54.1±23.4% (DM2 with insulin), respectively. Higher risk expectations were associated with higher fear of complications (p<0.001). Conclusion Risk estimations regarding long-term complications were exaggerated in people with DM1 and DM2. About one third of the participants reported elevated fear of complications. Participants’ risk expectations and fear regarding diabetes complications appear excessive compared to population-based prevalence rates.

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