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Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation

Published on: 2nd July, 2024

We report a rare case of 62-year-old South Asian women who visited the Molecular Pathology and Genomics Department for hereditary germline cancer genetic testing after being diagnosed with oesophageal cancer, reported as invasive keratinizing squamous cell carcinoma metastasized to the lymph nodes. Her personal history revealed that she was diagnosed with triple-negative breast cancer five years before oesophageal cancer. Germline cancer testing showed pathogenic variants in BRCA1 gene c.68_69delAG, which proved it a hereditary breast and ovarian cancer syndrome. She was started on PARP inhibitors but developed some secondary respiratory failure and succumbed to death. Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.
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The use of the scientific method as dogma can be an obstacle in times of pandemic

Published on: 8th January, 2021

OCLC Number/Unique Identifier: 8899350137

Science is not inherently dogmatic. On the contrary, in our opinion and according to Bachelard, it often breaks with certain dogmas [1]. That is why it must have the necessary flexibility to be able to analyze and incorporate exceptional situations. In this regard, the current Coronavirus pandemic is an exceptional situation causing several thousand deaths a day.
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Treatment Outcome in Patients with Myofascial Orofacial Pain: A Randomized Clinical Trial

Published on: 18th January, 2024

Background: Temporomandibular Disorder (TMD) pain attributed to myalgia is a common condition and patients should get advice on the best treatment option. Objectives: The aim was to evaluate the effect of two different exercise programs, or bite splint therapy, respectively, in patients with chronic frequent primary myofascial orofacial pain. Methods: The study was a randomized clinical trial including patients fulfilling criteria of chronic frequent primary myofascial orofacial pain with a reported pain intensity of ≥ 4 on a numerical rating scale (0-10). Ninety subjects were randomized to either bite splint, home exercises, or a supervised exercise program. Two examiners blinded to the treatment modality examined the same subject at baseline and a 3-month follow-up. Non-parametric statistical methods were applied for the outcome of treatment in intended-to-treat analyses. A P-value <0.05 was considered statistically significant. Results: The pain severity index was significantly reduced (p < 0.001) in all treatment groups. Jaw opening capacity improved significantly (p < 0.05) for those randomized to bite splint and for those in the home exercise program. About 70% of the participants reported improvement in their TMD pain severity with no significant difference between treatments. Both exercise groups improved in jaw function at the 3-month follow-up compared to baseline. Those who had a bite splint reported significantly more improvement in their headaches compared to those in the exercise programs. Conclusion: Jaw exercise programs and bite splint treatments had similar positive effects on TMD pain severity attributed to myalgia after 3 months.
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Myxedema coma in COVID-19

Published on: 31st July, 2021

OCLC Number/Unique Identifier: 9146322981

SARS-CoV-2 infection is associated with thyroid disorders. It has been reported that myxedema coma (MC) can be complicated with COVID-19. COVID-19-related thyroid disorders consist of a broad spectrum of thyroid dysfunction, from thyrotoxicosis to decompensated hypothyroidism. It is possible that both primary and central thyroid disorders are induced by COVID-19 due to systemic inflammatory and immune responses. We experienced two cases in which patients with COVID-19 developed MC with central hypothyroidism. It is likely that MC affected the severity of COVID-19. It is necessary to consider the existence of MC during SARS-CoV-2 infection. We propose the potential mechanisms.
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The clinicopathological correlates of Cystoisosporiasis in immunocompetent, immunocompromised and HIV-infected/AIDS patients, but neglected in SARS-COV-2/COVID-19 patients?

Published on: 20th January, 2021

OCLC Number/Unique Identifier: 8897954051

Cystoisosporiasis (formerly isosporiasis) is caused by Cystoisospora belli (erstwhile named Isospora belli) is encountered globally, particularly in tropical and subtropical regions. Cystoisosporiasis is a human intestinal disease whose etiology is the parasite Cystoisospora belli with infection frequent in immunocompromised subjects, principally HIV-infected and AIDS patients. This coccidium parasite infects the epithelial cells and lining of the villi of the small and large intestines. C. belli is the least frequent of the three intestinal coccidia, viz: Cryptosporidium, microsporidium and C. belli which perturb humans. The clinical presentation of cystoisosporiasis gives a semblance of inflammatory bowel disease and irritable bowel syndrome, as well as other gastrointestinal symptoms, nausea, vomiting and diarhoea found in COVID-19, AIDS and HIV-infected patients. Research has not presented comorbid features of COVID-19 and cystoisosporiasis. The oocytes of C. belli are visualizable microscopically on wet mounts via bright-field, differential interference contrast (DIC) and epifluorescence. Trimethoprin sulfamethoxazole constitute the normal treatment of choice. C. belli,HIV-infected/AIDS and COVID-19 patients have clinicopathological correlates necessary to elucidate comorbidities and mechanisms of the diseases.
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Serum MicroRNA-155 in Acute Graft-Versus-Host-Disease (aGVHD)

Published on: 16th August, 2019

OCLC Number/Unique Identifier: 9059393117

Allogeneic hematopoietic stem cell transplant (alloHSCT) is a curative treatment for many hematologic malignancies. Unfortunately, about 30-50% of all recipients undergoing alloHSCT develop acute graft-versus-host-disease (aGVHD), which is associated with high morbidity and mortality [1,2]. Treatment of aGVHD involves the use of immune suppressive drugs such as high dose of steroids that leads to further immunosuppression and risk for opportunistic infections. Often patients are refractory to steroids therapy making the prognosis dismal. Thus, it is critical to identify robust biomarkers to detect aGVHD before onset of clinical symptoms so that therapeutic strategies can be implemented that may result in better treatment responses and less toxicity. 
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An unmistakable tumour of the tongue

Published on: 11th November, 2022

A 37-year-old woman suffered from a painful and swelling lesion of the base of the tongue, with no history of smoking or medical history of tumours.
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Trends of Antibiotic Resistance among Uropathogens in Medical vs. Non-Medical Departments of Al-Shifa Medical Complex in Gaza Strip: A Retrospective, Cross-Sectional Study

Published on: 12th January, 2024

Antibiotic resistance is a growing global crisis, straining healthcare systems and leaving us with limited options to combat drug-resistant bacteria. This retrospective, cross-sectional study examines the prevalence of antibiotic resistance patterns among urinary tract infections (UTIs) in Al-Shifa Hospital’s medical departments in comparison with non-medical departments using data from microbiology laboratory archives over a one-year period. From the examined urine cultures about 25% were obtained from internal medicine departments and double the number was obtained from non-medical departments. The positive rate was around 35% and about two-thirds of the samples were collected from female patients. Among all departments, Enterobacteriaceae spp. were found to be the most frequently isolated uropathogens, accounting for 80% of cases. However, resistance rates varied depending on the specific organism and antibiotic used. For instance, E. coli showed a resistance rate of only 5% against meropenem, while amoxicillin-clavulanic acid exhibited a resistance rate exceeding 95%.Importantly, the study revealed a significant disparity in resistance rates between medical and non-medical departments, specifically concerning third-generation cephalosporins. In internal medicine departments, resistance rates were alarmingly high, with cefotaxime, ceftriaxone, and ceftazidime showing resistance rates of 75%, 75% and 66.5% respectively. In contrast, non-medical departments displayed lower resistance rates, approximately 60%, 60% and 40%, respectively.In summary, this research sheds light on the escalating problem of antibiotic resistance in UTIs and emphasizes the discrepancy in resistance rates between medical and non-medical departments. Urgent efforts are required to address this issue and find effective solutions to prevent the rise of untreatable bacterial infections.
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Case Report of a Child with Beta Thalassemia Major in a Tribal Region of India

Published on: 8th September, 2023

Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required.Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia.Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.
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Current and emerging trends in oro-dental healthcare and cranio-maxillo-facial surgery

Published on: 14th April, 2023

Dentistry is an ever-evolving field that has seen significant advances in recent years. This article sheds light on some of the current and emerging trends in oral health care, including digital dentistry, regenerative medicine, and the use of lasers. For example, digital dentistry involves the use of computer-aided design and manufacturing technology, which enables more accurate and efficient production of dental devices. On the other hand, regenerative medicine and nanoDentistry can be considered promising area that combines the use of stem cells, growth factors, biomaterials, and nanotechnology to regenerate damaged tissue and improve treatment outcomes. Lasers are increasingly being used in dentistry for a range of applications, including the treatment of gum disease and teeth whitening. Other developing technologies such as 3D printing and artificial intelligence are also being increasingly incorporated into dentistry, providing improved treatment options for our patients. Last yet definitely would/will not least, controlled drug delivery systems are being developed to deliver drugs to specific target sites in a localized and sustained manner, reducing the risk of adverse effects. Currently, these emerging trends are transforming the landscape of odontology and beyond. Hence, in this mini-Review, we explore such trends in oro-dental and cranio-maxillo-facial indications to highlight the potential benefits, advancements, and opportunities of applications for improved patient care.
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