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Diseases, Volume 7, Issue 2 (June 2019)

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Open AccessCase Report
A Rare Adverse Event of Rhabdomyolysis Caused by Sacubitril/Valsartan
Received: 17 April 2019 / Revised: 12 May 2019 / Accepted: 13 May 2019 / Published: 14 May 2019
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Abstract
Rhabdomyolysis is caused by extensive damage to skeletal muscles resulting in elevated creatine phosphokinase (CPK), Lactate dehydrogenase (LDH), and aspartate aminotransferase (AST), leading to life-threatening consequences like acute renal failure, cardiac arrhythmias, and hyperthermia. A variety of causes for muscle damage are known, [...] Read more.
Rhabdomyolysis is caused by extensive damage to skeletal muscles resulting in elevated creatine phosphokinase (CPK), Lactate dehydrogenase (LDH), and aspartate aminotransferase (AST), leading to life-threatening consequences like acute renal failure, cardiac arrhythmias, and hyperthermia. A variety of causes for muscle damage are known, and one of the most common is drug-induced. Statins and many other agents are known to induce muscle damage, but here we report Entresto™ (Sacubitril/Valsartan) induced rhabdomyolysis which has not been previously reported as solely responsible in the literature. Full article
Open AccessEditorial
Gene Therapy Today and Tomorrow
Received: 16 April 2019 / Accepted: 23 April 2019 / Published: 28 April 2019
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Abstract
In the wake of a breakthrough in biotechnology providing realistic application of recombinant expressed proteins as drugs in the 1990s, gene therapy emerged as the potential approach for providing medicines of the future [...] Full article
(This article belongs to the Special Issue Gene Therapy)
Open AccessInteresting Images
Herpes Simplex Virus Proctitis Masquerading as Rectal Cancer
Received: 31 March 2019 / Revised: 20 April 2019 / Accepted: 21 April 2019 / Published: 21 April 2019
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Abstract
Herpes simplex virus (HSV) is the leading cause of proctitis in HIV-infected individuals. However, no cases of rectal masses secondary to HSV infection have been reported to date. Herein, we present the case of a 45-year-old man with HIV infection who developed rectal [...] Read more.
Herpes simplex virus (HSV) is the leading cause of proctitis in HIV-infected individuals. However, no cases of rectal masses secondary to HSV infection have been reported to date. Herein, we present the case of a 45-year-old man with HIV infection who developed rectal pain and bleeding, along with dysuria and voiding difficulty. Colonoscopy revealed proctitis and a rectal mass with features concerning for rectal cancer. Histologic sections of the rectal mass biopsy demonstrated colorectal mucosa with viral cytopathic changes, ulceration, granulation tissue, marked inflammatory infiltrate, and fibrinopurulent exudate. Immunohistochemistry for herpes simplex virus-1 was positive in epithelial cells demonstrating a viral cytopathic effect. The patient was treated with valacyclovir for 3 weeks, which led to complete resolution of his symptoms. Follow-up sigmoidoscopy at 6 months did not show any masses. Our case illustrates the importance of considering HSV in the differential diagnosis of rectal masses. We advocate the routine use of viral immunohistochemistry for the evaluation of rectal tumors, especially in patients with clinical manifestations and endoscopic findings consistent with proctitis. Full article
(This article belongs to the Section Infectious Disease)
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Open AccessArticle
Role of Evolutionary Selection Acting on Vaccine Antigens in the Re-Emergence of Bordetella Pertussis
Received: 25 January 2019 / Revised: 9 April 2019 / Accepted: 15 April 2019 / Published: 16 April 2019
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Abstract
Pertussis (“whooping cough”) is a re-emerging disease with increasing incidence among fully vaccinated individuals. We explored the genetic diversity of five Bordetella pertussis proteins used to generate the subunit vaccine across ancestral and newly emergent strains using immunoinformatics and evolutionary selection measurements. The [...] Read more.
Pertussis (“whooping cough”) is a re-emerging disease with increasing incidence among fully vaccinated individuals. We explored the genetic diversity of five Bordetella pertussis proteins used to generate the subunit vaccine across ancestral and newly emergent strains using immunoinformatics and evolutionary selection measurements. The five subunits of pertussis toxin (Ptx1–Ptx5) were highly conserved with regard to sequence, predicted structure, predicted antigenicity, and were under purifying selection. In contrast, the adhesin proteins pertactin (Prn) and filamentous hemagglutinin (FHA) were under statistically significant (p < 0.01) diversifying selection. Most heavily diversified sites of each protein fell within antigenic epitopes, and the functional adhesin motifs were conserved. Protein secondary structure was conserved despite sequence diversity for FHA but was changeable in Prn. These findings suggest that subunit vaccine-derived immunity does not impact Ptx1–Ptx5 but may apply evolutionary pressure to Prn and FHA to undergo diversifying selection. These findings offer further insight into the emergence of vaccine-resistant strains of B. pertussis. Full article
(This article belongs to the Special Issue Infectious Disease Epidemiology)
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Open AccessArticle
Progressive Immunodeficiency with Gradual Depletion of B and CD4+ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)
Received: 4 March 2019 / Revised: 2 April 2019 / Accepted: 4 April 2019 / Published: 4 April 2019
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Abstract
Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly)). Immune [...] Read more.
Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly)). Immune deficiency in these patients ranged from late-onset combined immunodeficiency (CID) with severe respiratory tract infections and recurrent shingles to asymptomatic selective antibody deficiency. Evident clinical heterogeneity manifested despite a common genetic background, suggesting the pathogenic relevance of epigenetic modification. Immunological follow-up reveals a previously unidentified gradual depletion of B and CD4+ T cells in all three presented patients with transition of a common variable immunodeficiency (CVID)-like disease to late-onset-CID in one of them. Considering all previously published cases with ICF2, we identify inadequate antibody responses to vaccines and reduction in CD27+ memory B cells as prevalent immunological traits. High mortality among ICF2 patients (20%) together with the progressive course of immunodeficiency suggest that hematopoietic stem cell transplantation (HSCT) should be considered as a treatment option in due time. Full article
(This article belongs to the Section Immunology)
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Open AccessArticle
Psychometric Properties, Factor Structure, and Evidence for Measurement Invariance in the Greek Version of the Disgust Scale-Revised (DS-R)
Received: 10 February 2019 / Revised: 27 March 2019 / Accepted: 1 April 2019 / Published: 3 April 2019
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Abstract
The Disgust Scale has been designed to measure disgust propensity—the individual ease in experiencing disgust. The present study aimed to explore the validity, reliability, the factor structure, and the measurement invariance of the Greek version of the Disgust Scale-Revised (DS-R). A sample of [...] Read more.
The Disgust Scale has been designed to measure disgust propensity—the individual ease in experiencing disgust. The present study aimed to explore the validity, reliability, the factor structure, and the measurement invariance of the Greek version of the Disgust Scale-Revised (DS-R). A sample of 754 healthy participants completed the Greek version of the DS-R. A subset (n = 363) also completed the revised Symptom checked list and the Eysenck Personality Questionnaire, in order to examine the concurrent validity. Exploratory and Confirmatory factor analyses in different subsets were used to examine the factor structure. Multiple indicators–multiple causes model (MIMIC) models were used to assess the measurement invariance across gender and age. Demographic influences were assessed using t-tests, ANOVA, and Pearson’s correlations. Exploratory factor analysis concluded to two and three factor models, with a factor structure similar to the ones proposed in the literature. Confirmatory factor analysis and bi-factor analysis provided evidence in favor of the three-factor solution. Measurement invariance test revealed differences in six items across gender, and three items across age. The psychometric properties of the factors were satisfactory. Demographic influences on the responses were present, especially with respect to gender. The Greek version of the DS-R demonstrated satisfactory psychometric properties, making it suitable for use for the Greek population. Full article
(This article belongs to the Special Issue Neuro-psychiatric Disorders - from Diagnosis to Care)
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