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.
Criteria for paediatric oral liquid form
Published on: 26th March, 2021
OCLC Number/Unique Identifier: 8980371069
Paediatric hospitals frequently have to face the lack of commercially available medicines suitable or even licensed for their use in paediatrics. Thus, only one-third of all medicines approved by the European Medicines Agency over the period of 1995 to 2005 were licensed for use in children [1].
Pattern of LRR in Endometrial Cancer and Identification of Predictive Factors
Published on: 8th July, 2024
Background: Tailored adjuvant treatment is key to managing endometrial cancer effectively. Understanding prognostic factors of loco-regional failure and the impact of adjuvant treatment can help in treatment de-escalation without compromising survival outcomes.The aim of this study was to assess the pattern of failure in endometrial cancer patients and to determine predicting Loco-Regional Recurrence (LRR) factors.Patients and methods: Data were collected from 214 patients treated for endometrial cancer between 2005 and 2012 in Salah Azaiez Institute in Tunisia. All patients underwent upfront surgery followed by adjuvant brachytherapy with or without external beam radiation. The median follow-up period was 44 months. Univariate and multivariate analyses were performed to identify prognostic factors for LRR.Results: The 5-year overall survival rate was 78.1%, and the 5-year progression-free survival rate was 80.1%. LRR occurred in 25 patients (11.6%), with a median recurrence time of 29 months (range 4 months - 46 months). Pelvic relapse was the most common site, occurring in 10 patients. Vaginal relapses were observed in 9 patients, and retro-peritoneal relapses were observed in 6 cases. FIGO stage, tumor grade, histologic type, Lympho-Vascular Space Invasion (LVSI), and delays in adjuvant treatment were significant predictors of LRR.Conclusion: Identifying prognostic factors for LRR in endometrial cancer is crucial for optimizing adjuvant treatment strategies. Higher FIGO stages and the presence of LVSI were independent predictive factors for LRR. Tailored adjuvant treatment, taking these prognostic factors into account, is essential to improve patient outcomes and minimize unnecessary treatment-related toxicity.
Tamsulosin and Dementia in old age: Is there any relationship?
Published on: 1st October, 2019
OCLC Number/Unique Identifier: 8280929913
Tamsulosin is used to treat Benign Prostatic Hyperplasia (BPH), prescribed annually to about 12.6 million patients worldwide. It is an alpha-adrenergic antagonist that reduces the tone of the prostate smooth muscle involved in the pathophysiology of BPH. By acting on alpha 1A receptors, predominant in the prostate, tamsulosin also acts on receptors present in the brain. This study consisted of a literature review aimed at disseminating scientific knowledge about the relationship between the use of tamsulosin and the onset of dementia. PubMed, Scopus, Scielo, Embase, and Web of Science studies involving dementia in patients using tamsulosin in the last five years were selected. The review showed a risk correlation and a higher incidence of dementia in treated patients. The risk ratio, when compared to other medicines, approached 1.20. In conclusion, it was identified the need for clinical trials with higher sampling power to increase relational significance due to the high prevalence of BPH and the extensive use of tamsulosin in elderly patients with the disease.
Visual evoked potentials: Normative values from healthy Senegalese adults
Published on: 11th August, 2020
OCLC Number/Unique Identifier: 8652203971
Introduction: Visual evoked potentials (VEPs) are potential differences recorded on the scalp in response to visual stimulation. They are obtained with slowly repeated stimuli. The aim of this study was to determine the normative values of the visual evoked potentials in our setting.
Methodology: We conducted a cross-sectional study from February 1 to April 30, 2019 at the Clinical Neurophysiology laboratory of the I.P. Ndiaye Clinic at CHNU Fann in Dakar (Senegal).
Results: We found that men had high averages of N75, P100 and N145 wave latencies and low averages of P100 wave amplitude (p>0.05). However, neither age nor body mass index influenced the parameters of VEPs.
Conclusion: Sex is important physiological variable in establishing laboratory normative values for VEPs. There is a marked difference between the sexes for the VEPs parameters.
Calciphylaxis in Hemodialysis
Published on: 20th July, 2023
Calciphylaxis (CP) or uremic calcific arterial disease (CUA) is a rare, potentially fatal calcific vasculopathy characterized by calcific and thrombotic occlusion of the vessels of the subcutaneous and dermis leading to extremely painful necrotic lesions. It mainly affects patients with end-stage kidney disease (ESKD) and under long time dialysis. The only therapeutic option is represented by intravenous sodium thiosulfate. Currently, clear guidelines are lacking. We have had a good therapeutic response with doses of sodium thiosulfate in association with multidisciplinary management of the patient (vulnologist, dermatologist, nephrologist, dietitian, and cardiologist). There is limited literature on the use of DOAC therapy as a successful alternative to warfarin in patients on dialysis with calciphylaxis. The left atrial appendage closure could represent an important alternative to dicumarolics in patients with atrial fibrillation with calciphylaxis. A new perspective for the treatment of this disease is SNF472 a selective inhibitor of vascular calcification.
Treatment of advance keratoconus using donor bowman layer: the zaman technique of bowman layer transplantation (Type I & Type II)
Published on: 6th May, 2022
Commonly referred to as an ecstatic, non-inflammatory disease, Keratoconus, usually bilateral and asymmetric, is characterized by progressive steeping and thinning of the cornea. This results in irregular astigmatism which compromises vision [1,2]. Traditionally, early Keratoconus stages have been treated by prescribing a hard contact lens to obtain a regular anterior optical surface. This tendency was discontinued when contact lens intolerance in advanced stages required the use of penetrating keratoplasty (PKP) or deep anterior lamellar Keratoplasty (DALK). An alternative technique of corneal cross-linking was designed in 2003 as a treatment option for keratoconus. The cornea measured at least 400 um thickness after epithelium removal and pre-operative maximum keratometry (Kmax) measured 58D or less. As a result, no corneal transplantation was required or postponed [3].
Fetal Alcohol Spectrum Disorders – What does it mean?
Published on: 17th March, 2020
OCLC Number/Unique Identifier: 8566852662
Prenatal alcohol exposure is one of the most important causes of preventable cognitive impairment in the world. The developing neurological system is exquisitely sensitive to harm from alcohol and there is now also substantial evidence that alcohol-related harm can extend beyond the individual person, leading to epigenetic changes and intergenerational vulnerability and disadvantage [1].
Harmonic oscillation picture of the free electron Zitterbewegung in vacuum
Published on: 3rd May, 2022
As shown e.g. in ref.[1] Zitterbewegung (trembling motion) of the free Dirac electron is generated if transitions between positive and negative energy states occur. Here we treat this effect in a single-mode configuration using a density matrix method. As compared with more elaborate conventional treatments, this method allows an easy estimate of the amplitude of the motion. The result is by predicted spreads of the free electron charge.
Parabens: The love - hate molecule
Published on: 2nd May, 2020
Parabens are the esters of para-hydroxybenzoic acid [1], mimicking oestrogen, the hormone which makes a woman a woman; women love it and men hate it.
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