A 30-Year-Old Woman With Arthralgia, Progressive Dyspnea, and a Syncope Episode.

CASE PRESENTATION: A 30-year-old White woman with presumed rheumatoid arthritis accompanied by CT scan evidence of eosinophilic pneumonitis was referred to the ED by her rheumatologist for an investigation of the progression of dyspnea. Approximately 6 months before, the patient reported experiencing diffuse interphalangeal arthralgias (both proximal and distal) that affected the wrists, knees, and feet. These symptoms were accompanied by Modified Medical Research Council scale grade 2 dyspnea. During the initial assessment, the patient exhibited slight pallor and had no indications of inflammatory activity in the joints. Furthermore, the cardiovascular physical examination and the auto-antibody laboratory profile yielded normal results. However, a wrist ultrasound scan revealed evidence of active synovitis; a chest CT scan displayed multifocal bilateral ground-glass opacities and mild thickening of the interlobular septa. These findings suggested the presence of eosinophilic disease or an acute interstitial process related to collagen vascular disease. Consequently, the patient's treatment commenced with a weekly dose of methotrexate (10 mg). Despite the intervention, 2 months later, the patient returned, reporting persistent arthralgia and a worsening of dyspnea, now classified as Modified Medical Research Council scale grade 3. Subsequently, the rheumatologist referred her to the ED for further assessment. During the initial emergency evaluation, the patient experienced a syncope episode accompanied by orthostatic prodromal symptoms that included dizziness, nausea, and malaise.

Middle Mediastinal Mass Compressing the Pulmonary Trunk in a Patient With a History of Breast Cancer.

CASE PRESENTATION: A 61-year-old White woman, nonsmoker, was referred to Respirology for evaluation of small pulmonary nodules discovered incidentally on surveillance imaging 3 years after breast cancer treatment. She had a remote left breast ductal carcinoma in situ treated with lumpectomy followed by radiation therapy, and recurrent stage 1 breast cancer (estrogen receptor/progesterone receptor-positive, human epidermal growth factor receptor 2-negative) treated with mastectomy, axillary lymph node dissection, and reconstructive surgery, followed with adjuvant chemotherapy, radiation therapy, and letrozole maintenance. Her other medical conditions included compensated cirrhosis secondary to nonalcoholic fatty liver disease, type 2 diabetes, hypertension, OSA, restless legs syndrome, obesity, anxiety, and depression. She reported no dyspnea or constitutional symptoms.

There is no complete linkage between the polymorphisms N680S and T307A of the follicular stimulating hormone receptor gene in fertile women.

PURPOSE: We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women. METHODS: Peripheral blood was obtained from 51 fertile women. DNA extraction and isolation were performed. For the detection of the T307A polymorphism a set of primers (5_-TCTGAGCTTCATCCAATTTGCA-3_and 5_-GGGAAAGAGGGCA GCTGCAA-3) was used and then the product was further amplified by a second PCR-RFLP using another set of primers (5_-CAAATCTATTTTAAGGCAAGAAGTTGATTATATGCCTCAG-3_and 5_-GTAGATTCCAATGCAGA GATCA-3). For the N680S polymorphism the primers (5_-TTTGTGGTCATCTGTGGCTGC-3_ and 5_-CAAAGGCAAGGACTGAATT ATC ATT-3_) were used. Statistical analysis for the association between the polymorphisms was performed by the Spearman test. RESULTS: We calculated the association between the homozygosis at codon 307 and at codon 680 both for T/T-S/S and A/A-N/N. A significant association between the genotypic results at codon 680 with those at codon 307 was found (r = 0.6363, P = 0.001). However, a complete linkage between these two polymorphisms was rejected as there were 12 patients with discordant results from the expected A-N/T-S at codons 307 and 680, respectively. CONCLUSION: The current data demonstrated an association but failed to demonstrate a complete linkage between these two polymorphisms.