scholarly journals MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy

2019 ◽  
Vol 20 (22) ◽  
pp. 5600 ◽  
Author(s):  
Arturo López Castel ◽  
Sarah Joann Overby ◽  
Rubén Artero

Myotonic dystrophy involves two types of chronically debilitating rare neuromuscular diseases: type 1 (DM1) and type 2 (DM2). Both share similarities in molecular cause, clinical signs, and symptoms with DM2 patients usually displaying milder phenotypes. It is well documented that key clinical symptoms in DM are associated with a strong mis-regulation of RNA metabolism observed in patient’s cells. This mis-regulation is triggered by two leading DM-linked events: the sequestration of Muscleblind-like proteins (MBNL) and the mis-regulation of the CUGBP RNA-Binding Protein Elav-Like Family Member 1 (CELF1) that cause significant alterations to their important functions in RNA processing. It has been suggested that DM1 may be treatable through endogenous modulation of the expression of MBNL and CELF1 proteins. In this study, we analyzed the recent identification of the involvement of microRNA (miRNA) molecules in DM and focus on the modulation of these miRNAs to therapeutically restore normal MBNL or CELF1 function. We also discuss additional prospective miRNA targets, the use of miRNAs as disease biomarkers, and additional promising miRNA-based and miRNA-targeting drug development strategies. This review provides a unifying overview of the dispersed data on miRNA available in the context of DM.

2017 ◽  
Vol 20 (03) ◽  
pp. 1750014
Author(s):  
Mahdieh Asadi ◽  
Sharareh Roshanzamir

Background: Previous studies do not agree with each other on the association between electrodiagnostic findings and clinical symptoms of Carpal tunnel syndrome (CTS). In most of these studies, many variables such as age, sex, obesity and hypothyroidism have not been taken into account. Material & methods: About 62 patients with hypothyroidism and 62 patients without hypothyroidism with sign and symptoms of CTS were included in this study. Electrodiagnostic tests were done for all patients. And relationship of the severity of CTS signs and symptoms with electrodiagnostic parameters was examined statistically in each group. Results: This study showed that distal motor latency in control group (without hypothyroidism) is significantly more prolonged than hypothyroid patients. Also there was significant correlation between clinical symptoms and electrodiagnostic findings in control group, but there was not such correlation in hypothyroid patients. In 62% of hypothyroid patients with clinical signs and symptoms of CTS, electrodiagnostic findings were normal and only in 38% of cases, electrodiagnostic findings were suggestive of CTS. Conclusion: Relationship of the severity of CTS signs and symptoms with electrodiagnostic parameters is very weak in hypothyroid patients. Many hypothyroid patients with clinical signs and symptoms of CTS have normal electrodiagnostic findings; so we need more studies for revising the para-clinic criteria of labeling patients having CTS in hypothyroid patients.


Author(s):  
Abdolali MOSHFE ◽  
Arash ARIA ◽  
Najme ERFANI ◽  
Ali JAMSHIDI ◽  
Bahador SARKARI ◽  
...  

Background: In the current study, we described the epidemiological features, clinical presentation, diagnosis and management of patients with suspicion of fascioliasis in Kohgiluyeh and Boyer-Ahmad Province in southwest of Iran.    Methods: Overall, 56 patients with suspicion of fascioliasis, based on their clinical signs and symptoms that referred to Clinic of Internal Medicine in Yasuj city, from 2014 to 2016 were enrolled. Demographic data, history of eating aquatic local plants, the chief complains, and laboratory findings were recorded for each patient. Stool samples were obtained from each case for detection of Fasciola eggs. Moreover, blood samples were taken from each patient and evaluated for detection of anti-Fasciola antibodies by an indirect ELISA. Patients who defined as having fascioliasis were treated with triclabendazole and were followed for at least three months for clinical improvement. Results: Serological test was positive in 5 patients. Of these 5 cases, three cases had a history of ingesting raw aquatic vegetables. The main clinical signs and symptoms in positive cases were; abdominal pain (60%), epigastric pain (40%), anemia (60%), and dermal pruritus (20%). Hypereosinophilia was seen in all of 5 positive cases. No Fasciola egg was found in stool specimens of any of the patients. The fascioliasis cases were treated by triclabendazole and clinical symptoms disappeared in all of 5 cases. Conclusion: Our observation further confirmed Yasuj district as a human endemic area for fascioliasis in Iran. The study also highlighted the importance of clinical features together with eosinophilia, as key parameters, in the diagnosis of human fascioliasis. Clinicians need to be aware of this disease and should keep in mind fascioliasis when hypereosinophilia present in patients in such endemic areas.


Author(s):  
Hosein Yaghoubian ◽  
Hossein Niktale ◽  
Arash Peivandi Yazdi ◽  
Vahideh Ghorani ◽  
Masoud Mahdavi Rashed ◽  
...  

The antiviral effectiveness of allicin (L-cysteine) has been shown by numerous studies in both levels of clinical and animals. The aim of this study was to evaluate the therapeutic effect of allicin (L-cysteine) on clinical presentation and prognosis. In the current study, 66 patients with COVID-19 based on clinical, radiological presentations and RT-PCR results, were enrolled in two groups of placebo and allicin. In the both allicin (L-cysteine) and placebo groups (n=33 in each group), the capsules were prescribed two times a day for two weeks. Clinical signs and symptoms, blood parameters and chest CT scan were evaluated before and two weeks after treatment. The results showed that allicin (L-cysteine) could significantly impact on improvement of signs and symptoms of COVID-19 after two weeks of treatment in comparison to placebo. Allicin (L-cysteine) not only improve the clinical signs, but also ameliorate the lab and radiological data, which suggest a therapeutic effect for this agent in COVID-19. Our data suggest the therapeutic effect of allicin (L-cysteine) on COVID-19 through improvement of clinical symptoms and acceleration of the healing process.


2020 ◽  
Author(s):  
Wenjun Du ◽  
Jinhong Yu ◽  
Hui Wang ◽  
Xiaoguo Zhang ◽  
Shouwei Zhang ◽  
...  

Abstract Aims & Background: The COVID-19 outbreak spread in China and is a threat to the world. We reported on the epidemiological, clinical, laboratory, and radiological characteristics of children cases to help health workers better understand and provide timely diagnosis and treatment.Methods: Retrospectively, two research centers’ case series of 67 consecutive hospitalized cases including 14 children cases with COVID-19 between 23 Jan 2020 to 15 Feb 2020 from Jinan and Rizhao were enrolled in this study. Epidemiological, clinical, laboratory, and radiological characteristics of children and adults were analyzed and compared.Results: Most cases in children were mild(21.4%) and conventional cases(78.6%), with mild clinical signs and symptoms, and all cases were of family clusters. Fever (35.7%) and dry cough(21.4%) were described as clinical manifestations in children cases. Dry cough and phlegm were not the most common symptoms in children compared with adults(p=0.03). In the early stages of the disease, lymphocyte counts did not significantly decline but neutrophils counts did in children compared with adults(p=0.00).There was an elevated level of LDH(p=0.01) and a lower level of CRP(p=0.00)and IL-6(p=0.01) in children compared with adults. There were 8 (57.1%)asymptomatic cases and 6 (42.9%)symptomatic cases among the 14 children cases. The age of asymptomatic patients was younger than that of symptomatic patients(p=0.03). Even among asymptomatic patients, 5(62.5%)cases had pneumonia including 3 (60%) cases with bilateral pneumonia, which was not different compared with that of asymptomatic cases(p=0.58, p=0.74).Conclusions: The clinical symptoms of children are mild, and the positive indicators of laboratory tests are rare, which may easily cause clinical misdiagnoses.


1970 ◽  
Vol 25 (1) ◽  
pp. 13-16 ◽  
Author(s):  
Mahmuda Sultana ◽  
Abdul Ahad ◽  
Paritosh Kumar Biswas ◽  
M Ashiqur Rahman ◽  
Himel Barua

Black quarter (BQ) is an acute, infectious disease caused by Clostridium chauvoei - a Gram-positive, anaerobic organism. This disease is characterized by inflammation with gaseous oedema of skeletal muscle and severe toxaemia. This study was done in Upazilla Veterinary Hospital at Raozan in Chittagong from June to August 2006. During the study period, 25 cases of BQ in cattle were found in eight Unions. Among them the highest (32%) proportion of BQ was found in Raozan Union. Frequency of BQ according to demographic variable was: age incidence of >12 month (60%), male (60%), breed of Red Chittagong (44%), body condition score (BCS) of BCS-2 (88%), and affected body part involving hind quarter muscle (35%). Death was observed with 73% cases. In case of animals that were suffered from BQ, septicaemia developed after 12 h of onset of clinical signs and symptoms. Treatment was ineffective in advanced septicaemic stage. Antibiotic therapy was found to be effective when administered within 12 h of the clinical symptoms. Keywords: Black quarter; Clostridium chauvoei; Demographic variable; Septicaemia; Antibiotic therapyDOI: http://dx.doi.org/10.3329/bjm.v25i1.4848 Bangladesh J Microbiol, Volume 25, Number 1, June 2008, pp 13-16


2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S57-S58
Author(s):  
C E Middleton ◽  
N Varshney ◽  
D Roland

Abstract Introduction/Objective Amidst the SARS-CoV-2 pandemic, we have learned that other organs, aside from the lungs, are affected by the virus. Tissue damage has been documented both clinically and histologically in multiple systems including the gastrointestinal tract. Clinical symptoms of gastrointestinal distress may be correlated with histopathologic findings. Studies have shown direct infection of epithelial cells in the GI tract in patients with the disease. The objective of this study is to identify specific histologic alterations that are present in patients with COVID-19. Methods/Case Report At our institution, a retrospective analysis was conducted to evaluate all COVID-positive patients who underwent any gastrointestinal procedure within 30 days after their positive test. The time frame included January 1, 2020 to December 31, 2020. Chart reviews were performed to document radiographic studies, endoscopic findings, histopathologic analysis, and clinical symptoms. Results (if a Case Study enter NA) A total of 26 patients met our criteria for inclusion in the study. The cohort consisted of 10 males and 16 females ranging in age from 13 to 78 years. Tissue was sent for histologic analysis in 19 of these individuals. Tubular adenomas (13), chronic gastritis (11), and prominent intestinal lymphoid aggregates (7) were the most common pathologic findings (Table 1). Conclusion These findings suggest that the histopathologic findings rendered from GI procedures of patients with COVID-19 may be non-specific and may not reveal any morphologic correlate to the clinical signs and symptoms. We propose that histopathological abnormalities identified from GI samples of SARS-CoV-2 positive patients must be correlated with clinical symptoms, endoscopic findings, and imaging when available.


2011 ◽  
Vol 57 (3) ◽  
pp. 11-16
Author(s):  
L I Astaf'eva ◽  
B A Kadashev ◽  
I I Dedov ◽  
P L Kalinin ◽  
M A Kutin ◽  
...  

The data about sex-specific differences of clinical signs and symptoms of macroprolactinomas and their response to medicamental therapy with dopamine agonists between men and women are reported. The present study included 306 patients (the men to women ratio 1.4:1) presenting with macroprolactinomas. Large and giant neoplasms were shown to predominate in men regardless of their age accompanied by clinical symptoms associated with the so-called «mass effect» of the tumour. The occurrence of macroprolactinomas of different size depended on the age of the patients. The majority of the young women had tumours of large and intermediate size and exhibited clinical features of hyperprolactinemic hypogonadism while those aged above 40 years had large and giant tumours accompanied by the symptoms of their «mass effect». The medicamental treatment with cabergolin was equally efficacious in both men and women.


Author(s):  
Anupkumar R. Anvikar ◽  
Prajyoti Sahu ◽  
Madan M. Pradhan ◽  
Supriya Sharma ◽  
Naseem Ahmed ◽  
...  

Plasmodium vivax malaria elimination requires radical cure with chloroquine/primaquine. However, primaquine causes hemolysis in glucose-6-phosphate dehydrogenase-deficient (G6PDd) individuals. Between February 2016 and July 2017 in Odisha State, India, a prospective, observational, active pharmacovigilance study assessed the hematologic safety of directly observed 25 mg/kg chloroquine over 3 days plus primaquine 0.25 mg/kg/day for 14 days in 100 P. vivax patients (≥ 1 year old) with hemoglobin (Hb) ≥ 7 g/dL. Pretreatment G6PDd screening was not done, but patients were advised on hemolysis signs and symptoms using a visual aid. For evaluable patients, the mean absolute change in Hb between day 0 and day 7 was −0.62 g/dL (95% confidence interval [CI]: −0.93, −0.31) for males (N = 53) versus −0.24 g/dL (95%CI: −0.59, 0.10) for females (N = 45; P = 0.034). Hemoglobin declines ≥ 3 g/dL occurred in 5/99 (5.1%) patients (three males, two females); none had concurrent clinical symptoms of hemolysis. Based on G6PD qualitative testing after study completion, three had a G6PD-normal phenotype, one female was confirmed by genotyping as G6PDd heterozygous, and one male had an unknown phenotype. A G6PDd prevalence survey was conducted between August 2017 and March 2018 in the same region using qualitative G6PD testing, confirmed by genotyping. G6PDd prevalence was 12.0% (14/117) in tribal versus 3.1% (16/509) in nontribal populations, with G6PD Orissa identified in 29/30 (96.7%) of G6PDd samples. Following chloroquine/primaquine, notable Hb declines were observed in this population that were not recognized by patients based on clinical signs and symptoms.


2015 ◽  
Vol 100 (10) ◽  
pp. 3841-3849 ◽  
Author(s):  
Jürgen Honegger ◽  
Sven Schlaffer ◽  
Christa Menzel ◽  
Michael Droste ◽  
Sandy Werner ◽  
...  

Context: Representative data on diagnostic findings in primary hypophysitis (PrHy) are scarce. Objective: The objective of the study was to collate consistent data on clinical features in a large series of patients with PrHy. Another objective was to gain information on current practice in a diagnostic work-up. Design: The Pituitary Working Group of the German Society of Endocrinology conducted a nationwide retrospective cross-sectional cohort study in Germany. Patients: Seventy-six patients with PrHy were identified. Main Outcome Measures: Clinical and endocrinological features were assessed. Results: Headache (50%) and increase in body mass (18%) were the most frequent nonendocrine symptoms. Hypophysitis was associated with pregnancy in only 11% of the female patients. Diabetes insipidus was found in 54% of the patients at presentation. Hypogonadotropic hypogonadism was the most frequent endocrine failure (62%), whereas GH deficiency was the least frequent (37%). With 86%, thickening of the pituitary stalk was the prevailing neuroradiological sign. Compared with surgical cases, the cases without histological confirmation presented more often with suprasellar lesions and had less severe nonendocrine symptoms. Granulomatous hypophysitis was associated with more severe clinical symptoms than lymphocytic hypophysitis. Examination of cerebrospinal fluid was predominantly performed in participating neurosurgical centers, whereas thyroid antibodies were almost exclusively assessed in endocrinological centers. Conclusion: In contrast to the literature, hypogonadism was found to be the most frequent endocrine failure in PrHy. Weight gain was identified as a clinical sign of PrHy. In the majority of patients, PrHy can be reliably identified by characteristic clinical signs and symptoms, obviating histological confirmation. The diagnostic approach should be standardized in PrHy.


F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 898
Author(s):  
Joni Wahyuhadi ◽  
Erwin Astha Triyono ◽  
Christijogo Soemartono Waloejo ◽  
Agus Harianto ◽  
Halim Priyahau Jaya ◽  
...  

Background: Though coronavirus disease (COVID-19) has been designated as a global pandemic, its nature as a viral infection means that it is essentially a self-limiting disease. We studied the application of symptomatic, isolation, relaxation, nutrition and observation (SIRNO) therapy in patients with asymptomatic and mild symptoms of COVID-19 at a rescue hospital in Indonesia. Methods: This is a retrospective cohort study involving 2122 patients who were admitted to Indrapura Field Hospital in Surabaya from 28 May 2020 to 20 September 2020. We analyzed demographic data, clinical signs and symptoms, laboratory data, therapy and clinical outcomes. Result: The total sample of 2122 patients consisted of 1403 male patients (66.12%), and 719 female patients (33.88 %). The most common age range was 26-45 years, at 52.54% (1115 patients). The clinical symptoms of 1121 patients (52.8%) were asymptomatic, 977 patients (46%) had mild symptoms, and 24 patients (0.1%) had moderate symptoms. All patients received the SIRNO therapy method. From a total of 2122 patients, 1930 patients (90.9%) were cured, 181 patients (8.5%) are still being treated, seven patients (0.03%) were referred for indications of desaturation (SpO2 <94%), and four patients (0.01%) were moved to a referral hospital. Until 20 September 2020, the final date studied, there were no patient deaths. Conclusion: The SIRNO method provides excellent results in the management of COVID-19 at a rescue hospital for patients with asymptomatic and mild symptoms. Economic pharmacological research can initiate a follow-up study in order to objectively measure the effectiveness and efficiency of SIRNO treatment methods in patients with asymptomatic, mild symptoms of COVID-19, and the small number of 24 patients (0,.1%) with moderate symptoms.


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