Clinical and Genetic Analysis of Multi-System Pseudohypoaldosteronism Type 1 Caused by a Novel Splice Site Mutation of the Beta Subunit Gene of Epithelial Sodium Channel (Enac)
1.1. Background: This article aims to provide a comprehensive review of the clinical features and genetics basis of multi-system pseudohypoaldosteronism type 1 caused by SCNN1B gene mutations.
Persistent Thorasic Airleak After İmplantation of a Subcutaneously Port-Chamber Catheter
1.1. Introduction: Persistent thorasic airleak is a rare complication after totally implantable port-chamber catheter(PCC) implantation. Prolonged airleaks are undesirable because they prolong the duration of chest tube drainage with associated pain and risk of infection and they also prolong hospitalization. In cancer patients, it is important to prevent this rare complication and to recognize it early if it does occur.
A Review for Diagnostic Inaccuracy of Pure Ductal Carcinoma Insitu in Multiple Fibroadenomas and Axillary Nodal Involvement
Fibroadenomas (FA), are common benign tumor of the breast, can be treated with simple excision. Breast cancer arising within FA is a rare phenomenon.
A rare case of EBV infection mimicking polymyositis with Hemophagocytic syndrome-diagnostic challenges and pitfalls
To describe the clinical evolution of a case of Epstein-Barr virus infection simulating polymyositis from initial visit to final death
Coccidioidomycosis meningitis in an immunocompetent worker: A Case Report
The role of strain echocardiography in the early diagnosis of AL type cardiac amylodiosis: A Case Report
Cardiac amyloidosis is a progressive cardiomyopathy that results from the accumulation of disrupted endogenous proteins in the heart in the form of amyloid fibrils. Diagnosing cardiac amyloidosis is a difficult process for clinicians and requires suspicion first. AL type cardiac amyloidosis is the most fatal type compared to other types of cardiac amyloidosis.
Frequency Of Common Causes Of Severe Hyperbilirubinemia In Neonates Leading To Exchange Transfusion
1.1. Introduction: Severe hyperbilirubinemia can cause neurotoxicity called kernicterus which is a neurological syndrome resulting from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei due to which patients suffer from long term morbidities consisting of developmental delays, sensorineural hearing loss, mental retardation and other significant brain damage [1].
False negative results in prenatal aneuploidy invasive testing : two case reports
1.1. Aims: Over the last decade, molecular methods, such as chromosomal microarray and Bacs-On-Beads assay, have been shown to improve the detection rate of chromosomal abnormalities. Nonetheless, conventional cytogenetics methods, such as FISH and karyotyping, are still useful tools and should not be dismissed.
Myocardial Infarction On The Background Of Juvenile Idiopathic Arthritis
Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory arthritis under 16 years of age but unlike rheumatoid arthritis, the risk of cardiovascular diseases including Myocardial Infarction (MI) in adulthood with JIA is not yet proven. This young lady with a background of JIA that progressed to adulthood was diagnosed with inferior wall MI despite no known cardiovascular risk factors. The patient was diagnosed well in time and was successfully thrombolysed with streptokinase
IMRT combined with Cetuximab for locally recurrent nasopharyngeal carcinoma Case and literature review
1.1. Objective: Objective to explore the efficacy and safety of IMRT combined with cetuximab in the treatment of locally recurrent nasopharyngeal carcinoma.