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Stevens-Johnson syndrome/toxic epidermal necrolysis is a spectrum of mucocutaneous reactions that can occur due to drug reactions, infections with Mycoplasma pneumonia, human immunodeficiency virus (HIV), cancer, and genetics. Stevens-Johnson syndrome involves less than 10% of the body surface, while toxic epidermal necrolysis involves greater than 30%. The most common site of the lesions is mucocutaneous surfaces such as the eyes and oral cavity. Our patient was a 44-year-old female who presented to the emergency department with concerns for pain in her eyes, hands and feet, rash, and sore throat. Her rash worsened during the initial hospitalization. This case emphasizes the importance of pattern recognition of Stevens-Johnson syndrome, as this is a rare but serious condition that must be recognized and treated appropriately. The reaction is most commonly due to medications; however, a thorough history and physical exam are vital to diagnosing this potentially fatal condition. Copyright © 2020, Dutt et al.Background Red cell distribution width (RDW) reflects the volumetric heterogeneity of red blood cells (RBCs) and has proven to be a prognostic predictor for cardiovascular (CV) morbidity and mortality in ST-elevation myocardial infarction (STEMI). The study aims to evaluate the effect of the RDW admission value on the outcome of patients with STEMI. Materials and methods This is a cross-sectional observational study on (207) patients with first-ever STEMI, grouped according to their baseline RDW and thrombolysis eligibility into two groups. We calculated the in-hospital Global Registry of Acute Coronary Events (GRACE) score within 48 hours of presentation. Results The study demonstrated the impact of RDW on the primary STEMI outcomes (left ventricular ejection fraction (LVEF%), ST-resolution, arrhythmias, and cardiovascular mortality risk). It was nearly a gender-matched study, with a mean RDW of 14.20±1.86%. RDW>14% and age≥65 years were the strongest statistically significant independent predictors of STEMI outcome with LVEF % less then 45%, ST-resolution, and CV mortality regardless of thrombolysis. The thrombolysis offers a logical significant negative relation with CV mortality. At the same time, hypertension, diabetes mellitus (DM), and smoking may cause an additional mortality burden, especially in elderly patients with high RDW who are not eligible for thrombolysis. There was a significant association between high GRACE to high RDW, with excellent specificity and sensitivity in predicting CV outcome. Conclusion The RDW is a simple to acquire index, with a good prognostic prediction of major adverse cardiovascular events (MACEs) and CV mortality in the STEMI patients. It is excellent in predicting STEMI outcomes, especially the response to thrombolysis. Copyright © 2020, Odhaib et al.Objective The morphology and quantitative anatomy of the axis vertebra (C2) attracts a lot of attention between anatomists, surgeons and radiologists. However, no report exists in the literature correlating the height of the dens with the length of the femur. Our paper aims to determine such a correlation. Material and methods An examination of forty-five adult dry skeletons (twenty-three male and twenty-two female) was conducted. The height of the odontoid process of the axis and the maximum length of the femur were measured and statistically analyzed. Results The mean values for the height of the dens were 19.13±2.74 mm and 16.83±2.45 mm concerning the male and female dry skeletons respectively. The mean maximum length of the right femur bone was 43.04±2.32 cm for male and 39.90±2.40 cm for female skeletons. Data analysis revealed a statistically significant correlation (r=0.709, p less then 0.001) between the height of the odontoid process and the maximum length of the femur bone. A linear regression model expressing this association was created Femur max length (in cm) = 32.874 + 0.531 x Dens height (in mm). Conclusion We present a new mathematical equation correlating one of the most studied long bones of the skeleton, the femur, with another "long" part of the bony structure of the human body- the C2 odontoid process. Copyright © 2020, Vasilopoulos et al.Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. We report the first case of MDSC with a coexisting factor VII deficiency in an eight-year-old boy. Copyright © 2020, Ahmed et al.Background Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms in the gastrointestinal (GI) tract. The mutation of C-KIT is considered to be the crucial step in the tumorigenesis. Targeted therapies are being developed focusing these mutations. click here Various exon mutations of GIST responded in varied patterns to this targeted therapy. This study was carried out to evaluate the C-KIT exon 11, exon 9 and BRAF V600E mutations among GIST specimens. Methods This retrospective study was carried out among 20 DNA extracted specimens from paraffin blocks of GIST received in our tertiary teaching institution for a period of three years. DNA sequencing was carried out for mutational analyses on C-KIT exon 9, C-KIT exon 11 and BRAF V600E genes using Sanger sequencing. Results Histologically, majority of the tumors had spindle cell morphology. About 19 cases were positive for CD117. The analysis of type of mutations showed that three cases carried Exon 11 and three cases carried Exon 9 mutations. BRAF V600E mutation was seen in one case. Conclusion It is essential to conduct molecular studies on GISTs in order to get a clear understanding of the pathogenesis and behavior pattern. This will also help in designing targeted therapies and assessing recurrence. With the advent of rapidly evolving personalized therapy, the evaluation of genetic mutations is essential for diagnosis and prognostic value. Copyright © 2020, Madhala et al.
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