Correlation of plasma protein from MDS, young and elderly patients by SDS-page
Published on: 11th November, 2019
OCLC Number/Unique Identifier: 8330254423
Summary: Myelodysplastic Syndrome (MDS) is a heterogeneous group of clonal hematopoietic malignancies characterized by progressive cytopenias, ineffective hematopoiesis, bone marrow hypercellularity and transformation to acute myeloid leukemia (AML).
Objectives: Identify plasma proteins from MDS patients and from two healthy controls groups (young and elderly) by SDS-Page.
Methods: Plasma from 08 healthy young, 08 healthy elderly and 08 MDS patients were used for this study. Proteins were fractionated, precipitated, used for SDS-PAGE gel analysis, stained with comassie brilliant blue, scanned and bands were analyzed.
Results: It was possible to identify in both, 20% fraction and supernatant, proteins that were differentially expressed in each group. The ones that have showed some clinical relevance. Fibronectin was highly expressed only in the young control group. α2-Macroglobulin was also expressed in both control groups, but it was not expressed in the MDS group. Haptoglobin was highly expressed only in the elderly control and SMD groups.
Conclusion: Protein expression in plasma can be a biomarker for MDS, and may play a key role in the process of aging and hematologic malignancies development.
Pituitary gland metastasis from breast cancer: case report
Published on: 26th May, 2022
OCLC Number/Unique Identifier: 9524460826
Cancer metastasis to the pituitary gland is rare, but in most cases, it originates from a late-stage breast tumor or lung cancer. The most common symptoms of metastasis to the pituitary gland are diabetes insipidus and visual disturbance. The common site of metastasis is the posterior portion of the pituitary gland because it is highly vascularized. Metastases to this site represent 1% of all tumors [1]. Metastasis to the pituitary gland is difficult to diagnose by hormonal analysis and magnetic resonance imaging of the brain and requires biopsy for confirmation [2].
How to avoid partial implantation of people with cochlear malformation
Published on: 14th November, 2022
Many advances have been made in recent years in the development of hearing and cochlear implants. These use acoustic and electrical stimulation technologies to improve speech intelligibility for the hearing impaired. However, for cochlear prostheses, the results are not very promising and vary from one patient to another. Certain technical and sometimes physiological problems have limited the expected performances of these devices, especially for children and the elderly. These problems include cochlear malformation and ossification of the auditory channels. This led us to reduce the number of electrodes in order to allow quality deep insertion while preserving the low-frequency acoustic bands of the operated patient.
Huge median prostatic lobe: a interesting case of BPH
Published on: 30th August, 2022
Benign Prostatic Hyperplasia (BPH) refers to the nonmalignant growth or hyperplasia of prostate tissue and is a common cause of lower urinary tract symptoms in men [1].
A rare variant of the radial artery was discovered during a pseudoaneurysm of the brachial artery in a hemodialysis patient
Published on: 2nd August, 2022
The radial artery shows great anatomical variability with respect to its origin [1]. Generally, its origin is located in the cubital fossa at the level of the neck of the radius [2]. However, the artery may have a high origin from the brachial artery or even the axillary artery [1].
In the pursuit of a new route on acute myeloid leukemia treatment
Published on: 29th December, 2021
Acute myeloid leukaemia (AML) is the forefront disorder of the bone marrow among others that disrupt the normal production of blood cells and platelets. The bone marrow microenvironment or the bone marrow niche (BM niche) that orchestrates the proliferation and survival of Leukaemic stem cells (LSC) is the reason for relapse after complete remission and also chemotherapy drug resistance. As for most cancers oxidative phosphorylation, a fundamental mitochondrial process of energy production, is under focus for the treatment of AML and a novel strategy of targeting heat shock proteins appears as a promising route for further research.
Alone in the face of adversity
Published on: 3rd March, 2021
OCLC Number/Unique Identifier: 9031333886
From my desk I could be watching the wind blow or the horses running. Practicing Medicine in a rural setting has these advantages: from time to time you can take the time to admire the beauty that surrounds you in the form of an obligatory pause within a marathon working day, and rest helps refresh your mind of prejudices to continue with the inescapable task that awaits us after a few minutes, the only ones allowed to order our thoughts.
Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
Published on: 24th March, 2021
OCLC Number/Unique Identifier: 9272364196
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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.
Cardiac metastases from merkel cell cancer: A case report and review of literature
Published on: 5th July, 2022
OCLC Number/Unique Identifier: 9575034003
A 61 - year-old physically fit and athletic man presented to his dermatologist with a 10 mm raised, dark lesion on the left side of his neck. A complete skin examination did not show any other abnormal areas of skin. Pathology was found consistent with Merkel cell cancer, and the patient was referred to surgery for a wide local excision and sentinel lymph node biopsy. A PET scan did not show any other areas of concern. At surgery, one of two sentinel lymph nodes was found to be involved with Merkel cell cancer and the patient received postoperative radiation.
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