The study suggests that characterization of the drug-metabolizing genetic individual profile can be of great interest in clinical oncology. It can define the optimal chemotherapy for each patient, improve the efficiency, and reduce the incidence of drug toxicity and poor drug responses.
Despite the clinical benefits of aspirin, the interindividual variation in response to this antiplatelet drug is considerable. The manifestation of aspirin resistance (AR) is frequently observed, although this complex process remains poorly understood. While AR etiology is likely to be multifactorial, genetic factors appear to be preponderant. According to several genetic association studies, both genome-wide and candidate gene studies, numerous SNPs in cyclooxygenase, thromboxane and platelet receptors-related genes have been identified as capable of negatively affecting aspirin action. Thus, it is essential to understand the clinical relevance of AR-related SNPs as potential predictive and prognostic biomarkers as they may be essential to defining the AR phenotype.
IntroductionSarcoidosis is a systemic granulomatous disease. Renal involvement is a rare initial presentation of this disease. Few articles on renal involvement as an initial presentation of sarcoidosis have been published in the literature.Case presentationA 26-year-old Caucasian woman presented with acute renal failure as an initial manifestation of sarcoidosis.ConclusionsRenal involvement is an uncommon feature of sarcoidosis and it is essential to establish a fast and correct diagnosis because early therapy avoids progression to terminal renal failure.
Addison's disease is an endocrine disorder characterized by primary adrenal insufficiency due to various causes. Mycobacterium tuberculosis infection was a major cause in the past but is rare nowadays. We describe a patient admitted to our hospital who was diagnosed with tuberculous Addison's disease.
LEARNING POINTS• Tuberculosis is a rare cause of Addison's disease in developed countries and so diagnosis is a clinical challenge and requires a high index of suspicion.• Tuberculosis should always be considered as a cause of Addison's disease since treating active tuberculosis with steroids alone may have serious consequences. • Computed tomography findings can be very helpful in the diagnosis of tuberculous Addison's disease. KEYWORDS Addison's disease, Tuberculosis CASE PRESENTATION A 45-year-old Caucasian man was admitted to our hospital because of asthenia, anorexia and weight loss. These symptoms had started approximately 3 months previously and progressively worsening. He also described nausea and epigastric discomfort. In the month before admission the patient was unable to get out of bed to perform basic daily activities. On examination, the patient was alert and oriented. His temperature was 38.3°C, blood pressure 75/51 mmHg, heart rate 95 beats per minute, and respiratory rate 22 breaths per minute. Oxygen saturation was 98% while breathing ambient air. His lungs were clear to auscultation and the heart sounds were normal. His liver was palpable 2 cm inferiorly to the costal girdle. He was dehydrated, had generalized cutaneous hyperpigmentation and scattered, brown, macular lesions that were also present on the gums. He had no palpable lymph nodes. The neurological examination was normal. The patient had previously been healthy and was not taking any medication. He lived in a rural area of northern Portugal and worked as a mechanic. He was married and had two children and a cat. He had not recently travelled. The results of several examinations preformed before admission were brought by the patient. Blood tests revealed hyponatraemia and hyperkalaemia (131 and 5.8 mEq/l, respectively), and an elevated C-reactive protein and sedimentation rate (105 mg/l and 56 mm/h,
Atrial fibrillation (AF) and stroke are included in a group of complex traits that have been approached regarding of their study by susceptibility genetic determinants. Since 2007, several genome-wide association studies (GWAS) aiming to identify genetic variants modulating AF risk have been conducted. Thus, 11 GWAS have identified 26 SNPs (p < 5 × 10-2), of which 19 reached genome-wide significance (p < 5 × 10-8). From those variants, seven were also associated with cardioembolic stroke and three reached genome-wide significance in stroke GWAS. These associations may shed a light on putative shared etiologic mechanisms between AF and cardioembolic stroke. Additionally, some of these identified variants have been incorporated in genetic risk scores in order to elucidate new approaches of stroke prediction, prevention and treatment.
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