The term gene amplification refers to an increase in copy number of a gene. Upregulation of gene expression through amplification is a general mechanism to increase gene dosage. Oncogene amplifications have been shown in solid human cancers and they are often associated with progression of cancer. Defining oncogene amplification is useful since it is used as a prognostic marker in clinical oncology nowadays, especially v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (HER2) targeted agents are used in breast cancer patients with high level of HER2 overexpression as a therapeutic approach. However, patients without HER2 overexpression do not appear to benefit from these agents. We concluded that determination of oncogene amplification in solid tumors is an important factor in treatment of human cancers with many unknowns. We have referred to PubMed and some databases to prepare this article.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Background: The prevalence, clinical presentation, and patterns of psoriatic arthritis (PsA) vary in different parts of the world. The scenario of PsA in west is different from that of Asia. Moreover, the oligoarticular type which was considered most prevalent earlier has been replaced by polyarticular type. Aim: The study was to the clinical profile of psoriasis patients associated with PsA in Kashmir valley of India. Materials and Methods: This was a noninterventional, observational, prospective, hospital-based study involving 150 successive patients of PsA over a span of 6 years. Severity of the skin and nail involvement was assessed by Psoriasis Area and Severity Index (PASI) and Nail Psoriasis Severity Index (NAPSI), respectively. PsA was diagnosed by classification criteria for PsA. The number and pattern of swollen and tender joints was counted and classified by Moll and Wright's classification criteria. Results: Plaque-type psoriasis was the most common clinical type, observed in 122 (81.33%) patients followed by erythrodermic psoriasis in 10 (6.66%) patients and pustular psoriasis in eight (5.33%) patients. PsA occurred between 30 and 40 years of age in 105 (70%) patients. The cutaneous involvement occurred before joint involvement in 113 (75.33%), while they occurred simultaneously in 30 (20%) cases and the PsA preceded the skin involvement in seven (4.66%) cases. Symmetrical polyarthritis was the commonest clinical presentation and was seen in 90 (60%) patients. Nail involvement due to psoriasis was present in 120 (80%) patients. Commonest nail change found was pitting and seen in 60 (40%) patients. Conclusion: The clinical pattern of PsA varies in different parts of the world. Knowledge of the clinical presentation of PsA in a given area is necessary for the successful management of this disease.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Background: Predicting future coronary heart disease (CHD) risk with the help of a validated risk prediction function helps clinicians identify diabetic patients at high risk and provide them with appropriate preventive medicine. Aim: The aim of this study is to estimate and compare 10-year CHD risks of Nepalese diabetic patients using two most common risk prediction functions: The Framingham risk equation and United Kingdom Prospective Diabetes Study (UKPDS) risk engine that are yet to be validated for Nepalese population. Patients and Methods: We conducted a hospital-based, cross-sectional study on 524 patients with type 2 diabetes. Baseline and biochemical variables of individual patients were recorded and CHD risks were estimated by the Framingham and UKPDS risk prediction functions. Estimated risks were categorized as low, medium, and high. The estimated CHD risks were compared using kappa statistics, Pearson's bivariate correlation, Bland-Altman plots, and multiple regression analysis. Results: The mean 10-year CHD risks estimated by the Framingham and UKPDS risk functions were 17.7 ± 12.1 and 16.8 ± 15 (bias: 0.88, P > 0.05), respectively, and were always higher in males and older age groups (P < 0.001). The two risk functions showed moderate convergent validity in predicting CHD risks, but differed in stratifying them and explaining the patients' risk profile. The Framingham equation predicted higher risk for patients usually below 70 years and showed better association with their current risk profile than the UKPDS risk engine. Conclusions: Based on the predicted risk, Nepalese diabetic patients, particularly those associated with increased numbers of risk factors, bear higher risk of future CHDs. Since this study is a cross-sectional one and uses externally validated risk functions, Nepalese clinicians should use them with caution, and preferably in combination with other guidelines, while making important medical decisions in preventive therapy of CHD.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Background: Craniovertebral junction (CVJ) abnormalities constitute an important group of treatable neurological disorders with diagnostic dilemma. Their precise diagnosis, identification of probable etiology, and pretreatment evaluation significantly affects prognosis and quality of life of patients. Aims: The study was to classify various craniovertebral junction disorders according to their etiology and to define the importance of precise diagnosis for pretreatment evaluation with multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI). Materials and Methods: This is a prospective observational study of 62 patients referred to our department between October 2012 and September 2014. All patients suspected to have a craniovertebral junction disorder were included in the study, from all age groups and both genders. Detailed clinical history was taken. Radiographs of cervical spine were collected if available. All patients were subjected to MDCT and/or MRI. Results: In our study of 62 patients; 39 were males and 23 were females, with male to female ratio of 1.6:1. Most common age group was 2 ^nd -3 ^rd decade (19 patients, 30.64%). Developmental anomalies (33 patients, 53.22%) were the most common etiology group followed by traumatic (10 patients, 16.12%), degenerative (eight patients, 12.90%), infective (four patients, 6.45%), inflammatory and neoplastic (three patients each, 4.8%), and no cause found in one patient. Conclusions: CVJ abnormalities constitute an important group of treatable neurological disorders, especially in certain ethnic groups and are approached with much caution by clinicians. Thus, it is essential that radiologists should be able to make a precise diagnosis of craniovertebral junction abnormalities, classify them into etiological group, and rule out important mimickers on MDCT and/or MRI, as this information ultimately helps determine the management of such abnormalities, prognosis, and quality of life of patients.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Context: Transient global amnesia (TGA) is an intriguing condition that classically presents with an abrupt onset of temporary complete anterograde amnesia and partial retrograde amnesia. Most individuals who experience such a form of amnesia usually have only one attack but recurrent attacks are possible. Most attacks last for a few minutes or few hours and the ability to lay down new memories may also be affected but gradually improves, leaving only a dense amnestic gap for the duration of the episode. There has been some discussion about the etiology behind TGA; however, there has yet to be a consensus with regard to any significant association. Case Report: We report the case of a 65-year-old male presenting with a sudden onset of memory loss that is typical of TGA and who was found to have elevated homocysteine levels. There has only been one other case previously reported that discussed a possible correlation between hyperhomocysteinemia and TGA. It is yet to be determined if increased homocysteine level is a significant risk factor for attacks of TGA. Conclusion: Although it was first described more than half a century ago, it can still be misdiagnosed frequently as many physicians are not familiar with this condition. Furthermore, there are quite a few medical conditions that may cause sudden memory impairment, such as epilepsy and stroke, which make it difficult to distinguish them from this form of amnesia. The knowledge of these clinical identities is necessary for a high index of suspicion, which may lead to a meticulous medical evaluation as required for proper diagnosis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Context: Splenic aplasia is seen when the spleen is congenitally absent, has been surgically removed, or becomes atrophic secondary to episodes of arterial/venous occlusion, which result in splenic infarction. This rare condition is caused by a heterogenous group of diseases, which may present a wide spectrum of clinical manifestations. Splenic hypoplasia is defined as reduction in splenic mass and or functions caused by incomplete splenic development or secondary parenchymal involution. Splenic infarction may be clinically silent and only discovered incidentally during abdominal exploration for other conditions. Case Report: We present an unusual case of hypoplastic spleen with calcifications, which was preoperatively found during radiologic workup for gastric carcinoma. An 88-year-old woman presented with coffee-ground emesis. Her past medical history was only significant for atrial fibrillation. Esophagogastroduodenoscopy demonstrated gastric carcinoma, for which a subtotal gastrectomy was planned. Preoperative computed tomography scan showed a hypoplastic spleen with calcifications in the left upper quadrant. Symptoms of immunologic deficiency were not present. During laparotomy, an atrophied and calcified spleen was identified and left in situ. The patient made an uneventful postoperative recovery. Splenic hypoplasia is an unique entity, which may be seen in the setting of atrial fibrillation and abdominal malignancy. Conclusion: Splenic hypoplasia may be detected incidentally during radiologic workup or abdominal exploration. Abdominal symptoms or immunologic deficiency are not always present.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Context: Coronary artery anomalies are uncommon and most are incidental findings. Double right coronary artery (RCA) is a very rare coronary artery anomaly. Case Report: We report two cases of double RCA incidentally found in electrocuted patients. Both cases showed double RCA arising from separate ostia. On microscopy, both right coronaries showed no significant pathology in the first case while in the second case, the posterior RCA showed features of obliterative arteritis. Conclusion: Although double coronary artery has been regarded as hemodynamically insignificant, it may be associated with atherosclerosis, acute coronary syndromes, and other anomalies. It is important to know the anatomic variants. Meticulous grossing and careful observation could unearth hidden anomalies.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]