Identification of novel genetic variations affecting osteoarthritis patients

Background

Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure that is mainly composed of type II collagen and provides tensile strength to the tissue via aggrecan and proteoglycans. However, changes in the ECM composition and structure can lead to loss of collagen type II and network integrity. Several risk factors have been correlated with OA including age, genetic predisposition, hereditary factors, obesity, mechanical injuries, and joint trauma. Certain genetic association studies have identified several genes associated with OA using genome-wide association studies (GWASs).

Results

We identified several novel genetic variants affecting genes that function in several candidate causative pathways including immune responses, inflammatory and cartilage degradation such as SELP, SPN, and COL6A6.

Conclusions

The approach of whole-exome sequencing can be a promising method to identify genetic mutations that can influence the OA disease.

     

Prevalence of COVID-19 among blood donors: The Jordan University of Science and Technology experience

The corona virus disease-19 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, had health and economic results that profoundly affected communities worldwide. Investigating the seroprevalence of SARS-Cov-2 in blood donors is of a significant clinical and scientific value as it adds to knowledge about local herd immunity levels.To study the prevalence of SARS-Cov-2 infection among blood donors at a tertiary referral hospital in the north of Jordan.This is a prospective study that included all blood donors between September 2020 and March 2021. Donors’ IgG antibodies were qualitatively immunoassayed to determine the antibody status against SARS-CoV-2. The Elecsys Anti-SARS-CoV-2 technique was utilized.One thousand samples were tested by total antibody against SARS-CoV-2. The median age was 29 years, 96.7% were males. The seroprevalence was 14.5%, and 80% of the positive participants did not report previous COVID-19 infection. The seroprevalence of COVID-19 antibodies was less among smokers and those with an O blood group and higher among donors with an AB blood group.The prevalence of COVID-19 among healthy young blood donors at a tertiary teaching health facility in the north of Jordan was 14.5%. Smokers and those with an O blood group were less likely to be seropositive, as opposed to donors with an AB blood group.     

Translation,validation, and diagnostic accuracy of the Arabic version of the Michigan neuropathy screening instrument

The Michigan Neuropathy Screening Instrument (MNSI) is used to screen patients for diabetic neuropathy (DNP). We aimed to translate the MNSI questionnaire into Arabic (MNSIq-Ar) and to assess the validity and diagnostic performance of the MNSI Arabic version (MNSI-Ar).Cronbach alpha α and the interclass correlation coefficient were used to measure the reliability and reproducibility of the MNSIq-Ar. The instrument''s validity was assessed by Spearman correlation with the Utah Early Neuropathy Scale (UENS), the Modified Toronto Neuropathy Score (mTCNS), diabetic neuropathy symptoms (DNS), and sural nerve amplitude (SNA). The construct validity of the MNSI-Ar was assessed by its ability to differentiate the severity of DNP (using the Kruskal–Wallis test). The diagnostic performance was assessed through the receiver operator curve area.We recruited 89 participants (mean [SD] age, 50.8 [12.3] years; 48% men). The MNSIq-Ar showed an α of 0.81 and intraclass correlation coefficient = 0.94, and the correlation coefficients with UENS, mTCNS, DNS, and sural nerve amplitude were 0.67, 0.83, 0.73, and −0.49, respectively (all P < .0001). The MNSI-Ar was able to differentiate the different severities of DNP. The receiver operator curve area was 0.93 with a high sensitivity of 95.9% and 100% for probable and confirmed DNP, respectively.MNSI-Ar is a reliable and valid tool to screen for diabetic neuropathy in the Arabic language with a good diagnostic performance and high sensitivity.     

Tuberous sclerosis presenting as neonatal cyanosis because of rhabdomyoma causing tricuspid valve obstruction needing a Blalock-Taussig shunt

We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%). An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. There was a small atrial septal defect (ASD) shunting right to left and patent ductus arteriosus (PDA) shunting left to right. The provisional diagnosis was rhabdomyoma. Blalock-Taussig shunt was done to preserve the tricuspid valve, because these masses tend to regress spontaneously, which was the case after few months. Subsequently, the patient was diagnosed with tuberous sclerosis.     

Cancer chemoprevention through dietary flavonoids:what's limiting?

Flavonoids are polyphenols that are found in numerous edible plant species. Data obtained from preclinical and clini-cal studies suggest that specific flavonoids are chemo-preventive and cytotoxic against various cancers via a multi-tude of mechanisms. However, the clinical use of flavonoids is limited due to challenges associated with their effective use, including (1) the isolation and purification of flavonoids from their natural resources; (2) demonstration of the effects of flavonoids in reducing the risk of certain cancer, in tandem with the cost and time needed for epidemiologi-cal studies, and (3) numerous pharmacokinetic challenges (e.g., bioavailability, drug–drug interactions, and metabolic instability). Currently, numerous approaches are being used to surmount some of these challenges, thereby increas-ing the likelihood of flavonoids being used as chemo-preventive drugs in the clinic. In this review, we summarize the most important challenges and efforts that are being made to surmount these challenges.     

Primary aortoenteric fistula: A case report and brief review of the literature

Aortoenteric fistula is a life-threatening emergency and is associated with high morbidity and mortality. Prompt surgical intervention before the aneurysm ruptures lowers the mortality rate to about 50%. Potential imaging mimics for aortoenteric fistula include retroperitoneal fibrosis, mycotic aortic aneurysm, and infectious aortitis. Secondary aortoenteric fistula has relative higher incidence compared to primary and is more common with open aortic repair versus endovascular stent graft repair. Ectopic gas in the aneurysm sac and extravasation of enteric contrast into the aneurysm sac is diagnostic for aortoenteric fistula. However, enteric contrast is not recommended for routine evaluation of aortoenteric because the aforementioned finding is extremely rare. More common imaging findings include bowel loop appearing adherent to aneurysm sac with associated inflammatory stranding and foci or ectopic gas within the aneurysm sac or interposed between the bowel and aneurysm sac. Here we present a case of 52-year-old male who presents with incidental primary aortoenteric fistula.