Polyposis found on index colonoscopy in a 56-year-old female-BMPR1A variant in juvenile polyposis syndrome:A case report

BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults.Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.CASE SUMMARY We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C(p.Met470Thr).She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy.The patient was asymptomatic with a normal physical examination and no related medical or family history.Blood tests revealed only mild iron deficiency without anemia.To date,there has only been one other reported case of JPS with the same genetic variant.Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.CONCLUSION JPS patients can present with no prior symptoms or family history.Genetic testing plays an important diagnostic role guiding management.

COVID-19 and the cardiovascular system-current knowledge and future perspectives

The current coronavirus disease 2019(COVID-19) pandemic has had devastating impact on populations around the world.The high mortality rates in patients with COVID-19 has been attributed to the influence of severe acute respiratory syndrome coronavirus-2(SARS-CoV-2),its causative viral agent,on several physiological systems in human body,including the respiratory,cardiovascular,and neurological systems.There is emerging evidence on propensity of this virus to attack cardiovascular system.However,various pathophysiological mechanisms by which SARS-CoV-2 interacts with cardiovascular system and leads to high morbidity and mortality,including cardiovascular complications,are poorly understood.This mini review aims to provide an update on the current knowledge and perspectives on areas of future research.

Optimisation of Benzodiazepine Immunoassay Using <i>β</i>-Glucuronidase Enzymatic Hydrolysis: A Comparison of Five Different <i>β</i>-Glucuronidase Enzymes

Background: Hydrolysis improves the sensitivity of drug detection for drug classes such as opiates/opioids and benzodiazepines, which are highly metabolized by glucuronidation and sulfation and should be implemented in analytical procedures to convert conjugated metabolites into the free or unbound form. This study was aimed to compare different enzymes to make an informed decision. Methods: In this study, the CEDIA Benzodiazepine assay was compared with the LC-MS-MS method using 150 positive urine samples and 50 negative urine samples. The samples were analysed without adding any enzyme and then by adding different enzymes to compare their performance. Results: The Kura Escherichia coli enzyme performed better than the Roche Escherichia coli enzyme which had 20% false-positive results. Kura BG-100 enzyme performed well but Kura B-One enzyme performed better The Kura B-One enzyme had only 11.5% false-positive results. When double the volume of Kura B-One enzyme was used to test to see if it will have any impact on reducing the number of false negatives, it performed worse. Kura Turbo enzyme behaved similarly to Kura BG-100. Conclusions: The β-glucuronidase enzymes comparison allowed us to identify the Kura B-One enzyme as the enzyme of choice for our operation because it reduces the false positives from 20% to 11.5% when compared with the Roche enzyme. It also improved the detection of oxazepam. The Kura B-One enzyme has a short incubation time for hydrolysis when used with the LC-MS-MS method. As a result, we improved the overall turn-around time and reduced the number of false positives that needed confirmation.

Metatranscriptomic analysis of host response and vaginal microbiome of patients with severe COVID-19

Dear Editor,The pandemic of coronavirus disease 2019(COVID-19)caused by severe acute respiratory syndrome coronavirus 2(SARS-Co V-2)has become a global public health threat.Here we use a TRACE-seq-based metatranscriptomic analysis to compare host responses and vaginal microbiome of postmenopausal female patients with underlying severe COVID-19 disease with those of healthy females,thereby providing insights into the changes in the microenvironment of women's reproductive system.

Environmental insults:critical triggers for amyotrophic lateral sclerosis

Background:Amyotrophic lateral sclerosis(ALS)is a fatal neurodegenerative disease characterised by a rapid loss of lower and upper motor neurons.As a complex disease,the ageing process and complicated gene-environment interactions are involved in the majority of cases.Main body:Significant advances have been made in unravelling the genetic susceptibility to ALS with massively parallel sequencing technologies,while environmental insults remain a suspected but largely unexplored source of risk.Several studies applying the strategy of Mendelian randomisation have strengthened the link between environmental insults and ALS,but none so far has proved conclusive.We propose a new ALS model which links the current knowledge of genetic factors,ageing and environmental insults.This model provides a mechanism as to how ALS is initiated,with environmental insults playing a critical role.Conclusion:The available evidence has suggested that inherited defect(s)could cause mitochondrial dysfunction,which would establish the primary susceptibility to ALS.Further study of the underlying mechanism may shed light on ALS pathogenesis.Environmental insults are a critical trigger for ALS,particularly in the aged individuals with other toxicant susceptible genes.The identification of ALS triggers could lead to preventive strategies for those individuals at risk.

Survival after pentobarbitone overdose confirmed through Prescription,Recreational and Illicit Substance Evaluation(PRISE)programme in Australia

Deaths caused by barbiturate overdoses have increased in the past decade,especially as a result of suicide attempts.Pentobarbitone is a central nervous system depressant used for sedation and euthanasia in veterinary medicine.However,pentobarbitone analysis is not commonly available in the hospital setting;hence,its occurrence in overdoses is under-reported.Herein we describe a patient who ingested pentobarbitone obtained from the Internet with the purpose of ending his life.He became comatose and required ventilation for 6 days.While critically ill,the drug and a barbiturate test kit were found in his room at his residence.Toxicological analysis of the patient’s blood determined the presence of pentobarbitone at levels of 91,56,and 19 mg/L at 11,59,and 107 h after ingestion,respectively.With supportive care,the patient made a full recovery.He stated that he believed the liquid was to be pentobarbitone,and that he had received advice on its use from an online forum that he had found on a dark web marketplace.In this report,we highlight the process by which we facilitated pentobarbitone analysis with a rapid turnaround time,which helped to inform clinical management and raise awareness among clinicians.The access was made through the Prescription,Recreational and Illicit Substance Evaluation(PRISE)programme,which is a collaborative network among the New South Wales(NSW)Ministry of Health,NSW Poisons Information Centre(PIC),and NSW Health Pathology Forensic&Analytical Science Service(FASS).

Intensive care unit outcomes in patients with hematological malignancy

Hematological malignancies are usually life-limiting conditions.Limitations of care need to be decided early,based on acceptability to the patient,family,physician,and community.Inappropriate intensive care unit(ICU)admission is likely to result in significant physical,psychological,and economic burden.There is little published on the impact of non-acute preadmission disease factors on ICU outcomes in hematological malignancies.Aim:To identify baseline performance and disease-associated factors before admission to ICU in patients with hematological malignancy that contribute to subsequent ICU mortality.Methods:A retrospective analysis of electronic medical records,laboratory results,and Intensive Care data for all patients(n=184)with hematological malignancy admitted to the Calvary Mater Hospital ICU between January 1,2013 and June 30,2017 was undertaken.Baseline age,gender,condition,Eastern Cooperative Oncology,and Charlson Comorbidity scores were compared to ICU outcome and overall survival.Disease-specific prognostic risk scores were compared to ICU outcome.Results:Overall,73.9%survived the ICU admission,with 31.6%surviving at 12 months.Superior ejection fractions(>55%)and prognosis>12 months(based on disease-specific risk scores)were significantly associated with overall survival(P=0.024 and P=0.001).Induction and posttransplantation therapy were predictive of poor ICU survival outcome(P<0.0001 and P=0.041).APACHE scores were significant predictors of ICU mortality(P=0.002 for APACHE II and P<0.0001 for APACHE III).Conclusion:Survival outcomes for patients with hematological malignancy admitted to the ICU correlate with functional and comorbidity status.Disease-specific prognostic scores can assist in recognizing patients likely to benefit from ICU admission.