Jornal de Biomarcadores Moleculares e Diagnóstico

Biomarkers are the indicators of the processes or pharmacological response to a therapeutic intervention. The application of biomarkers in various fields, especially in the disease diagnosis and prognosis, prediction and assessment of treatment response is leading to significant breakthroughs in the field of Medical research & therapy. The current volume no 7, issue 4 had published reliable, relevant and most advanced research articles, case reports, review article and opinion article.

Cancer is a major health problem all over the world, the main obstacle facing cancer prevention is a lack of precise approach for early detection and prevention strategies of the disease. All previous works on cancer dealt with only infected patients. New technique under accurate statistical experimental design must be developed in order to early diagnose of the disease. This will be done through molecular characterization of genomic DNA of thousands of cancer infected as well as healthy people living in high and low risk environmental conditions. Genetic variations (differences) for resistant/tolerant versus susceptible individuals to cancer incidence exist within communities and various regions. The result of such molecular genetic variations will play role in answering the questions of why do the majority of people living in high environmental risk area never get cancer? And why do some people living in low environmental risk area get cancer? Previous studies reported that the current theory dealing with cancer cause is that long periods of exposure to environmental risk factors (carcinogenic, pollutants, smoke, chemical and others) have had a major effect in modifying the constitution of the genome (gene) through mitosis mutation. Contrary to that, the current article hypothesizes that cancer occur as a result of presence of sensitive gene(s) that inherited by infected individuals coupled and interacted with environmental causes. So it is a vital issue to investigate the relation between resistant versus susceptible individuals to cancer incidence and their molecular characterizations (genetic make-up) to identify the molecular genetic differences (genes or alleles, that are associated with resistance or susceptibility to cancer), as molecular genetic markers to be used as early detection of individuals susceptible to cancer.

Primary carcinoma of the external auditory canal is extremely rare, with an incidence of approximately one per million populations per year. The commonest presenting symptom is reported to be pain followed by signs and symptoms of chronic suppurative otitis media.

A 28 year old male patient presented with polypoidal mass in left ear occluding external auditory canal since 3 months. Radical excision was done. The histopathology suggested poorly differentiated adenocarcinoma with surgical margins free. Patient received adjuvant radiotherapy (25 cycles, 50Gy).

Patient developed recurrence within 6 months for which wide excision of the mass along with excision of external auditory canal and a scalp rotation flap was performed. Patient was given concurrent chemoradiotherapy.

In such cases the need for adequate surgical excision has been stressed by many authors. Parotid gland involvement and perineural involvement are poor prognostic signs, associated with high chances of recurrence after surgical resection.

Background: Pancreatic sarcoidosis in the absence of systemic sarcoidosis is a rare entity with few reported cases. Most described cases are in black females and typically involve the head of the pancreas. This report describes a case of sarcoidosis involving the tail of the pancreas in a Caucasian male.

Case Presentation: A previously healthy 48 year old Caucasian male presented with abdominal pain following an episode of heavy alcohol ingestion. Serum amylase was elevated and imaging was consistent with acute pancreatitis. Workup ruled out gallstones or autoimmune pancreatitis and his presentation was attributed to alcohol use. Despite abstaining from further alcohol intake, his abdominal pain persisted for several weeks, and subsequent imaging revealed persistent pancreatitis with narrowing of the pancreatic duct in the tail with an associated area of hypoechogenicity. FNA of this region showed rare benign ductal epithelial cells without evidence of malignancy. He was offered resection for his ongoing symptoms and to rule out a malignancy as an underlying etiology. He underwent laparoscopic distal pancreatectomy and splenectomy. Pathology from the resected specimen showed non-necrotizing granulomas involving the pancreas, spleen and the majority of 25 resected lymph nodes. Acid-fast bacteria and Gomori methenamine silver stains were negative for fungal or mycobacterial organisms and there was no evidence of polarizable materials within these granulomas. These findings are consistent with sarcoidosis. The patient recovered and was discharged without complication. He was subsequently referred to a rheumatologist for further workup and management.

Conclusions: Sarcoidosis can present with isolated pancreatic symptoms and may be difficult to distinguish from other causes of pancreatitis. In the absence of systemic disease, surgery alone may be both diagnostic and therapeutic.

Background: CTRP1, a recently identified adipokine, was found to stimulate aldosterone production. Serum CTRP1 and plasma Aldosterone levels were significantly increased in patients with diabetes mellitus and metabolic syndrome. Therefore, it would be interesting to investigate whether the secretion of CTRP1 in human serum is associated with hypertension as well as with diabetes mellitus.

Aim: This study evaluated serum CTRP1 and aldosterone concentrations in healthy individuals and in patients with diabetic nephropathy.

Methods: Serum samples from 32 healthy individuals and 44 patients with diabetic nephropathy were measured for CTRP1, Aldosterone, diabetes-related biomarkers and renal disease-related biomarkers by enzyme-linked immunosorbent assay (ELISA).

Results: Correlation analyses showed that serum CTRP1 in healthy individuals was not correlated with any other biochemical parameters or laboratory characteristic; however, in patients with diabetic nephropathy, a significant correlation was found between serum CTRP1 and Aldosterone (P=0.003), Urea, Cystatin C and ANGPTL4. Aldosterone level was significantly higher in subjects with diabetic nephropathy compared to healthy subjects (P=0.01).

Discussion: Our results demonstrated that the adipokine CTRP1 is significantly associated with Aldosterone and support the hypothesis that CTRP1 may be a newly identified molecular link between obesity and hypertension.

The prevalence of heart failure with preserved left ventricular ejection fraction (HFpEF) rises consequently within past decades. Both phenotypes of HF, i.e. HFpEF and HF with reduced EF (HFrEF), have exhibited similar cardiovascular mortality rates and admission rates, while development and progression of HFpEF and HFrEF associate with different co-morbidities. Understanding of the pathophysiological mechanisms of the two phenotypes of HF is essential for discovery of future new treatments. Biomarkers reflecting several stages of failing heart evolution and different pathophysiological faces of HF (N-terminal pro brain natriuretic peptide, high-sensitivity troponin T, and galectin-3) have been implemented into routine clinical practice to increase diagnostic and predictive capabilities of clinical-based stratification models. Recent clinical studies have shown that development of endothelial dysfunction in HF could relate to activation and/or apoptosis of endothelial cells. Worsening endothelium integrity and function relate to release of newly detectable circulating biomarkers called endothelial cell derived microparticles (EMPs). The commentary is discussed the role of impaired immune pattern of circulating EMPs associated with elevated number of apoptotic endothelial cell-derived microparticles in prediction of HFpEF development.

Background: Biallelic polymorphism of A/G variation at position 308 in the promoter region of TNF-α gene is an important genetic factor causing high TNF-α transcription which could influence the clinical outcome of atherosclerosis. Studies have also implicated the role of NF-κB in atherogenesis by regulating genes involved in the inflammatory response and insulin sensitivity.

Material and Method: 50 cases of angiographically significant atherosclerosis (>50% obstruction in coronary arteries) and 50 age, sex, BMI matched patients with insignificant atherosclerosis (>50% obstruction) on angiography were selected from GB Pant Hospital. Polymorphism was studied by amplifying DNA using PCR and amplified segments were digested by restriction enzyme Nco-I and followed by RFLP. Serum NF-κB, TNF-α levels were estimated by sandwich ELISA.

Results: The mean serum NF-κB and TNF-α levels were significantly (p=0.04, 0.000 respectively) raised in cases as compared to controls. Upon binomial logistic regression analysis, NF-κB emerged as the best predictor of severity of atherosclerosis (Odds ratio=27) among other markers. Our results showed no intergenotypic variation of 308-G/A polymorphism of the TNF-α gene between cases and controls.

Conclusion: Our study establishes NF-κB as an emerging biomarker of severity of atherosclerosis in Indian population. No intergenotypic variation between cases and controls indicates that significantly high levels of TNF-α in the cases is attributed to cause other than polymorphism in Indian population. High prevalence of chronic low grade inflammation in population could be postulated as the possible cause.

Intraductal tubulopapillary neoplasm (ITPN) of the pancreas is a relatively new entity with approximately 60 reported cases in the literature. While distinct from mucinous neoplasms of the pancreas, its clinical presentation can be quite varied, thus making this a challenging diagnosis. However, the histopathological characteristics of ITPN are better characterized, lending aid in establishing the diagnosis. In this brief case report, we present an as yet undescribed and unusual presentation of ITPN associated with intratumoral hemorrhage and a high serum lipase level, which normalized following resection.

Extra-nodal natural killer/T-cell lymphoma, nasal type is a distinct entity of non-Hodgkin’s lymphoma. This case report describes a rare presentation of NK/T cell lymphoma on the upper lip. However, lung metastasis was confirmed by CT scans after 2 cycles of chemotherapy. The patient then died of infection and multiple organ failure. This case indicates that Oral Medicine specialists should be aware of this disease, and multiple diagnostic techniques should be applied in order to make an accurate and timely diagnosis.