A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.

Alterations in aortic elasticity indices among type 2 diabetes patients in a low and middle income country using M-mode echocardiography: A cross-sectional comparative study.

Background: Diabetes is one of the leading causes of noncommunicable diseases worldwide. It is known to induce cardiovascular remodeling, which can result in a variety of complications, including a considerable increase in aortic stiffness. While studies in Western populations have explored these effects, data on Asians, mainly Vietnamese, are limited.

Changes in patient profiles in the cardiology department of the University Hospital Gabriel Touré (UH-GT) : results of two cross-sectional studies of 2010 and 2022.

Background: Little is known about patient profile changes in medical facilities in our country, leading to this study to describe and compare patient profiles in 2010 and 2022.

Patients And Methods: This was a cross-sectional study with new outpatients aged 15 years and more seen in the cardiology department of the UH-GT. Measurements included height, weight and body mass index (BMI).

Evaluation of the relationship between left atrial stiffness, left ventricular stiffness, and left atrioventricular coupling index in type 2 diabetes patients: a speckle tracking echocardiography study.

Background: Cardiovascular complications are a leading cause of mortality and disability in individuals with diabetes mellitus (DM). Moreover, DM can directly impact the structure and function of cardiac muscle. We conducted a study to evaluate cardiac stiffness in DM patients in both the left atrium (LA) and left ventricle (LV), as well as to assess the impact of DM on the synchronization of the LA and LV, particularly within the Vietnamese population, utilizing speckle tracking echocardiography (STE).

A novel de novo variant in the gene causes cleidocranial dysplasia in a Malian girl.

Key Clinical Message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes.

Formative research to adapt the 'Diabetes Prevention Program- Power to Prevent' for implementation in Bamako, Mali.

Background: There are few community-level behaviors change interventions for reducing diabetes and hypertension risk in Africa, despite increasing cases of type 2 diabetes and cardiovascular diseases. Thus, this study was designed to adapt the United States Centers for Disease Control and Prevention's "Diabetes Prevention Program Power to Prevent" (DPP-P2P) for use in low-income urban communities of Bamako, Mali.

Methods: Feedback was elicited on an initial French PowerPoint adaptation of the DPP-P2P session guidelines from stakeholders at the ministry of health, organizational partners, and medical care providers.

Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination.

Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect.

Patients And Method: We have conducted a longitudinal and prospective study from January 2018 to December 2020.

[Epidemiological and clinical aspects of atrial fibrillation at the cardiology department of kati university hospital].

Unlabelled: Atrial fibrillation is the most frequent permanent rhythm disorder.Theaim of this work was to determine the epidemiological and clinical aspects of atrial fibrillation cases hospitalized in the cardiology department of the University Hospital of Kati.

Materials And Methods: We carried out a descriptive retrospective study, from January 2018 to December 2019.

Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.

Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.

[Epidemiology of Covid-19 and high blood pressure association at Mali'shospital].

Introduction: High blood pressure is a major cardiovascular risk factor. Patients with cardiovascular risk factors are at risk of developing COVID-19. The objective of this study was to determine epidemiology of Covid-19 infected in patients with high blood pressure.

Correction to "Simple Two-step Procedure for the Synthesis of Memantine Hydrochloride from 1,3-Dimethyl-adamantane".

[This corrects the article DOI: 10.1021/acsomega.0c01589.

Simple Two-step Procedure for the Synthesis of Memantine Hydrochloride from 1,3-Dimethyl-adamantane.

Memantine hydrochloride is a medicine used for the treatment of Alzheimer's disease. A number of methods for the preparation of memantine hydrochloride have been reported. These procedures started from 1,3-dimethyl-adamantane by as many as using three or four reaction steps to produce memantine hydrochloride with overall yields ranging from 54 to 77%.

Therapeutic effects of a small molecule agonist of the relaxin receptor ML290 in liver fibrosis.

Fibrosis is an underlying cause of cirrhosis and hepatic failure resulting in end stage liver disease with limited pharmacological options. The beneficial effects of relaxin peptide treatment were demonstrated in clinically relevant animal models of liver fibrosis. However, the use of relaxin is problematic because of a short half-life.

Vesicle-Cloaked Virus Clusters Are Optimal Units for Inter-organismal Viral Transmission.

In enteric viral infections, such as those with rotavirus and norovirus, individual viral particles shed in stool are considered the optimal units of fecal-oral transmission. We reveal that rotaviruses and noroviruses are also shed in stool as viral clusters enclosed within vesicles that deliver a high inoculum to the receiving host. Cultured cells non-lytically release rotaviruses and noroviruses inside extracellular vesicles.

Hypertension and Associated Factors in Rural and Urban Areas Mali: Data from the STEP 2013 Survey.

Background: Our study aims to estimate hypertension (HTN) prevalence and its predictors in rural and urban area.

Methods: We conducted a cross-sectional population-based study involving subjects aged 15 to 65 years. Collected data (sociodemographic, blood pressure, weight, height, and blood glucose) were analyzed using SPSS version 20.

Human Relaxin Receptor Is Fully Functional in Humanized Mice and Is Activated by Small Molecule Agonist ML290.

Relaxin, a small peptide hormone of the insulin/relaxin family, demonstrated antifibrotic, organ protective, vasodilatory, and proangiogenic properties in clinical trials and several animal models of human diseases. Relaxin family peptide receptor 1 (RXFP1) is the relaxin cognate G protein-coupled receptor. We have identified a series of small molecule agonists of human RXFP1.

An overview on biodegradation of polystyrene and modified polystyrene: the microbial approach.

Polystyrene is a widely used plastic in many aspects of human life and in industries due to its useful characteristics of low cost, light weight, ease of manufacture, versatility, thermal efficiency, durability, and moisture resistance. However, polystyrene is very stable and extremely hard to degrade in the environment after disposal. Polystyrene can be used as a carbon source for microorganisms similar to many other hydrocarbons.

Structural Insights into the Activation of Human Relaxin Family Peptide Receptor 1 by Small-Molecule Agonists.

The GPCR relaxin family peptide receptor 1 (RXFP1) mediates the action of relaxin peptide hormone, including its tissue remodeling and antifibrotic effects. The peptide has a short half-life in plasma, limiting its therapeutic utility. However, small-molecule agonists of human RXFP1 can overcome this limitation and may provide a useful therapeutic approach, especially for chronic diseases such as heart failure and fibrosis.

[Clinical and paraclinical profile of heart transplanted patients at the Thoracic and cardiovascular surgery service of the Pitié Salpétrière Hospital in 2009].

Objective: To determine the clinical and paraclinical profile of heart transplanted patients in 2009 in the Thoracic and Cardiovascular Surgery (TCVS) of the Pitié-Salpêtrière Hospital (PS).

Method: It was a retrospective and descriptive study on heart transplantation patients between January 1 and December 31, 2009 in the TCVS of PS. Data collection was conducted from medical records, medical correspondence and pre-transplant assessment data and relevant laboratory tests, ultrasound, angiographic and operative reports.

Activation of Relaxin Family Receptor 1 from Different Mammalian Species by Relaxin Peptide and Small-Molecule Agonist ML290.

Relaxin peptide (RLN), which signals through the relaxin family peptide 1 (RXFP1) GPCR receptor, has shown therapeutic effects in an acute heart failure clinical trial. We have identified a small-molecule agonist of human RXFP1, ML290; however, it does not activate the mouse receptor. To find a suitable animal model for ML290 testing and to gain mechanistic insights into the interaction of various ligands with RXFP1, we have cloned rhesus macaque, pig, rabbit, and guinea pig RXFP1s and analyzed their activation by RLN and ML290.

[A descriptive study of ventricular septal defect (VSD) in the Luxembourg mother-child Hospital in Bamako].

Objective: This work aimed to determine the incidence, epidemiological, clinical, echocardiographic aspects, and treatment of ventricular septal defect (VSD) in the Luxembourg mother-child Hospital in Bamako.

Method: A descriptive cross-sectional study was conducted between September 1, 2011 and May 31, 2012. It focused on children of both sexes seen in consultation or for echocardiography, in whom VSD was found through echocardiography.

[Proteinuria in hypertensive patients in the cardiology department of the Gabriel TOURE University Hospital].

Objective: This study aimed to describe epidemiological, clinical, and biological aspects of proteinuria in hypertensive patients in the cardiology department of the Gabriel Touré University Hospital in Bamako.

Patients And Methods: A cross-sectional descriptive study conducted from January to December 2007 in the cardiology department of the Gabriel Touré University Hospital.

Results: A total of 114 subjects were included (60 men and 54 women) with a mean age of 57 years, the sex ratio was 1.

[Veinus thrombosis of the limbs in the cardiology service of the Gabriel Touré Teaching Hospital].

Objective: Determine the frequency of thrombosis of the upper and lower limbs in the cardiology specialist unit. Describe the clinical and paraclinical signs observed. Identify etiological factors.

[Orthostatic low blood pressure in patient suffering from hypertension, in external cardiology consultation].

Unlabelled: This work was aimed to describe the epidemiological, clinical, biological and electrical aspects of orthostatic low blood pressure (LBP) within patients with high blood pressure (HBP) in the cardiology department of the Kati University Hospital. This was a prospective cross-sectional study conducted between June 1, 2012 and May 31, 2013. It included all the patients with HBP regularly assessed for at least a month, following their treatment and having no other treatments which can induce a orthostatic LBP.