Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.

BACKGROUND: Gastric adenocarcinoma (GAC) is the fifth most common cancer in the world, and the presence of germline pathogenic variants has been linked with approximately 5% of gastric cancer diagnoses. Multiple GAC susceptibility genes have been identified, but information regarding the risk associated with pathogenic variants in these genes remains obscure. We conducted a systematic review of existing studies reporting the penetrance of GAC susceptibility genes. METHODS: A structured search query was devised to identify GAC-related papers indexed in MEDLINE/PubMed. A semi-automated natural language processing algorithm was applied to identify penetrance papers for inclusion. Original studies reporting the penetrance of GAC were included and the full-text articles were independently reviewed. Summary statistics, effect estimates, and precision parameters from these studies were compiled into a table using a predetermined format to ensure consistency. RESULTS: Forty-five studies were identified reporting the penetrance of GAC among patients harboring mutations in 13 different genes: APC, ATM, BRCA1, BRCA2, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, MUTYH-Monoallelic, NBN, and STK11. CONCLUSION: Our systematic review highlights the importance of testing for germline pathogenic variants in patients before the development of GAC. Management of patients who harbor a pathogenic mutation is multifactorial, and clinicians should consider cancer risk for each applicable gene-cancer association throughout the screening and management process. The scarcity of studies we found investigating the risk of GAC among patients with pathogenic variants in GAC susceptibility genes highlights the need for more investigations that focus on producing robust risk estimates for gene-cancer associations.

Vulnerable in silence: Paediatric health in the Ukrainian crisis.

The Russian invasion of Ukraine is a humanitarian disaster. It has a wide-ranging impact on the livelihood and the health of those affected by the war. In the midst of constant shelling and casualties, children are more vulnerable to injuries, infections, malnutrition, and trauma, all of which can have serious consequences for their physical and mental health. Children, unlike adults, are simply subjected to the horrors of war with no pre-existing ability to deal with the consequences. We hope to highlight the effects of the current Ukrainian war on the health of the paediatric population, with a particular emphasis on surgical care, cancer care, infectious disease, to name a few. We hope to help contextualize future data and encourage the development of a system to protect and serve the war's most vulnerable population.

Elective surgeries during and after the COVID-19 pandemic: Case burden and physician shortage concerns.

The COVID-19 pandemic had a significant impact on several aspects of global healthcare systems, particularly surgical services. New guidelines, resource scarcity, and an ever-increasing demand for care have posed challenges to healthcare professionals, resulting in the cancellation of many surgeries, with short and long-term consequences for surgical care and patient outcomes. As the pandemic subsides and the healthcare system attempts to reestablish a sense of normalcy, surgical recommendations and advisories will shift. These changes, combined with a growing case backlog (postponed surgeries + regularly scheduled surgeries) and a physician shortage, can have serious consequences for physician health and, as a result, surgical care. Several initiatives are already being implemented by governments to ensure a smooth transition as surgeries resume. Newer and more efficient steps aimed at providing adequate surgical care while preventing physician burnout, on the other hand, necessitate a collaborative effort from governments, national medical boards, institutions, and healthcare professionals. This perspective aims to highlight alterations in surgical recommendations over the course of the pandemic and how these changes continue to influence surgical care and patient outcomes as the pandemic begins to soften its grip.

The Alien Limb Phenomenon in Creutzfeldt-Jakob Disease: A Systematic Review of Case Reports.

Alien limb phenomenon (ALP) is a clinical finding seen in numerous neurological disorders, including Creutzfeldt-Jakob disease (CJD). We aimed to conduct a systematic review to update advances in understanding the classification and pathophysiology of ALP in CJD. We used PubMed advanced-strategy searches and only included full-text observational studies and case reports conducted on humans and written in English. We used the PRISMA protocol for this systematic review and the Methodological Quality of Case Reports tool to assess the bias encountered in each study. After applying the inclusion/exclusion criteria, 10 case reports were reviewed. Two independent reviewers analyzed data and confirmed the phenotype of each case of the alien limb in CJD separately. Overall, the most prevalent ALP phenotype presenting in patients with CJD was the posterior phenotype, usually in the early stages of the disease. Our findings corroborate previous research in demonstrating the pathophysiology behind ALP in CJD. We suggest physicians suspect CJD whenever patients present with ALP as the initial symptom.

Neuroimaging in the Rare Sleep Disorder of Kleine-Levin Syndrome: A Systematic Review.

Kleine-Levin syndrome (KLS) is characterized by episodes of hypersomnia. Additionally, these patients can present with hyperphagia, hypersexuality, abnormal behavior, and cognitive dysfunction. Functional neuroimaging studies such as fMRI-BOLD, Positron Emission Tomography (PET) or SPECT help us understand the neuropathological bases of different disorders. We conducted a systematic review to investigate the neuroimaging features of KLS patients and their clinical correlations. This systematic review was conducted by following the Meta-Analysis of Observational Studies in Epidemiology (MOOSE) and PRISMA protocol reporting guidelines. We aim to investigate the clinical correlation with neuroimaging among patients with KLS. We included only studies written in the English language in the last 20 years, conducted on humans; 10 studies were included. We excluded systematic reviews, metanalysis, and case reports. We found that there are changes in functional imaging studies during the symptomatic and asymptomatic periods as well as in between episodes in patients with K.L.S. The areas most reported as affected were the hypothalamic and thalamic regions, which showed hypoperfusion and, in a few cases, hyperperfusion; areas such as the frontal, parietal, occipital and the prefrontal cortex all showed alterations in cerebral perfusion. These changes in cerebral blood flow and regions vary according to the imaging (SPECT, PET SCAN, or fMRI) and the task performed while imaging was performed. We encountered conflicting data between studies. Hyper insomnia, the main feature of this disease during the symptomatic periods, was associated with decreased thalamic activity. Other features of K.L.S., such as apathy, hypersexuality, and depersonalization, were also correlated with functional imaging changes. There were also findings that correlated with working memory deficits seen in this stage during the asymptomatic periods. Hyperactivity of the thalamus and hypothalamus were the main features shown during the asymptomatic period. Additionally, functional imaging tends to improve with a longer course of the disease, which suggests that K.L.S. patients outgrow the disease. These findings should caution physicians when analyzing and correlating neuroimaging findings with the disease.

Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis.

Background: Fabry disease (FD) is the second most common lysosomal storage disorder. This disorder affects multiple systems that include the cardiac, renal, and nervous system. The pulvinar sign (PS) is a relatively common sign seen in patients with FD. The PS is a bilateral, symmetrical pulvinar high signal relative to the signal intensity seen on unenhanced T1-weighted brain MR imaging. Methods: We conducted a systematic review with metanalysis to analyze the pool prevalence of the disorder. We used the Moose Guidelines and PRISMA Protocol for this systematic review and Robins 1 to access the BIAS of the study. To analyze the pool prevalence, we used "Open Meta-Analysis" software for analyzing the study. We used "Review Manager 5.4" to analyze the odds ratio between patients with and without the PS and patients with and without stroke among patients with FD. Results: We gather 12 studies from 2003 to 2021 for the analysis of this study. The pool prevalence of the study was 0.146 (0.076−0.217) (62/385 cases) with a 95% CI (0.0945−0.415) (p < 0.01). The prevalence was much higher in men (59 cases) than in women (3 cases). There was no relationship between the pulvinar sign and patients with stroke among patients with Fabry disease. Odds ratio 1.97 95% CI (0.35−11.21), p = 0.44; Tau2 = 0.77. There seems to be a correlation with renal failure (RF), but there were very few studies to conduct a metanalysis with RF. Conclusions: The prevalence of the PS among all studies was 23.9%; the prevalence of this sign is higher among males. We found that FD patients who had strokes did not have higher odds of presenting with the Pulvinar Sign than the FD patients who did not suffer a stroke. Patients with renal failure and FD seem to have a higher tendency to have the PS, but there were not enough studies to analyze that theory. Overall, we think the pulvinar sign has a poor prognostic value in patients with Fabry's disease.

Use of Levodopa After a Stroke: A Systematic Review.

Stroke is a leading cause of death and disability, especially in certain ethnic groups. Impaired consciousness is a common outcome in stroke patients, serving as a predictor of prognosis and mortality. Lately, there has been increased interest in drugs such as Levodopa (LD), which have been found to promote wakefulness. To further appreciate this association, we gathered updated evidence of this novel therapeutic approach and compared it, evaluating its clinical use in an acute stroke setting. We carried out a systematic review of clinical trials conducted exclusively on stroke patients who received levodopa. Four clinical trials were reviewed and analyzed after applying the inclusion/exclusion criteria. The use of levodopa showed positive results in four of the clinical trials, and statistically significant results in 3/4 of the studies; however, more studies need to be conducted to corroborate these results.

Simplified Community Based Telecare During the COVID-19 Pandemic.

Telehealth has evolved as a very comprehensive tool for treating patients with mild to moderate symptoms across the globe during the global pandemic. Adoption of Telehealth in India posed special challenges because of its diversity in languages. Lack of proper healthcare infastructure and especially poor network connectivity have affected pre-hospitalisation care. We have developed an easy to use replicable tool and shown the path to succesful telecare for affected communities. Methods MedicAidTM - an EMR software has been used along with Zoom® to quickly provide online consultations for COVID patients, individually and in groups. Results A total of 60 COVID patients were given online consultation and provided support with recovery in all. Conclusion Group based community care is safe for mass treatment of COVID.

COVID 19 Care Call-in Helpline. A Report from India.

A COVID 19 call helpline was established by a noted TV channel along with a group of consultant doctors at the height of the second wave COVID 19 pandemic in India. It helped the general public to understand dos and donts as well as long term implications. We retrospectively analysed the questions asked to get a feel of the misunderstandings and perceptions within the general public. Many quereies related to the vaccination drive.