Obstructive sleep apnea (OSA) may be linked to various factors that narrow the upper airways, such as obesity, adenotonsillar hypertrophy and craniofacial abnormalities. Hypothyroidism has also been described as a risk factor for OSA. However, the implication of goiter independently of thyroid function in the occurrence of OSA remains unclear. We present the case of a 66-year-old patient, with a large compressive multinodular goiter for whom total thyroidectomy was indicated. During the preoperative assessment, the patient showed a body mass index (BMI) of 37.8 kg/m2 with symptoms of OSA. Respiratory polygraphy confirmed the diagnosis of severe OSA (apnea hypopnea index: AHI=32) and treatment with continuous positive airway pressure (CPAP) was initiated prior to thyroid surgery. Surprisingly, after total thyroidectomy, OSA symptoms disappeared and the patient abandoned CPAP therapy. Subsequent respiratory polygraphy after thyroidectomy showed a decrease in AHI to a normal value (AHI < 5). Interestingly, there was no change in BMI or other factors explaining the resolution of OSA, except for thyroidectomy. This case report suggests that goiter can be considered a risk factor for OSA. However, prospective studies are needed to accurately assess the effects of goiter on occurrence of OSA according to its dimensions and local extension.
Introduction and importance: Plasmacytoid carcinoma of the bladder is a rare histological variant of urothelial carcinoma associated with late presentation. This pattern of disease may portend an extremely poor prognosis and significant challenges for treatment with curative intent. Case presentation: The authors report a case of a patient with locally advanced plasmacytoid urothelial carcinoma (PUC) of the bladder. A 71-year-old man with a history of chronic obstructive pulmonary disease presented with gross hematuria. The rectal examination revealed a fixed bladder base. A computed tomography scan showed a pedunculated lesion arising from the anterior and left lateral bladder wall and extended to the perivesical fat. The patient underwent transurethral resection of the tumor. The histologic examination revealed the presence of muscle-invasive PUC of the bladder. The decision of the multidisciplinary consultation meeting was to do palliative chemotherapy. Thus, the patient could not receive systemic chemotherapy and died 6 weeks after transurethral resection of the bladder tumor. Clinical discussion: A plasmacytoid variant of urothelial carcinoma is a rare subtype of urothelial carcinoma that has a poor prognosis with a high mortality rate. The disease is usually diagnosed at an advanced stage. Given the rarity of plasmacytoid bladder cancer, treatment guidelines are not clear; therefore, more aggressive treatment may be required. Conclusion: PUC of the bladder is characterized by high aggressiveness, an advanced stage at the time of diagnosis, and a poor prognosis.
Obstructive sleep apnea (OSA) may be linked to various factors that narrow the upper airways, such as obesity, adenotonsillar hypertrophy and craniofacial abnormalities. Hypothyroidism has also been described as a risk factor for OSA. However, the implication of goiter independently of thyroid function in the occurrence of OSA remains unclear. We present the case of a 66-year-old woman with a large compressive multinodular goiter for whom total thyroidectomy was indicated. During the preoperative assessment, the patient had a body mass index (BMI) of 37.8 kg/m2 with symptoms of OSA. Respiratory polygraphy confirmed the diagnosis of severe OSA (apnea–hypopnea index (AHI) = 32), and treatment with continuous positive airway pressure (CPAP) was initiated prior to thyroid surgery. Surprisingly, after total thyroidectomy, OSA symptoms disappeared, and the patient abandoned CPAP therapy. Subsequent respiratory polygraphy after thyroidectomy showed a decrease in AHI to a normal value (AHI < 5). Interestingly, there was no change in BMI or other factors explaining the resolution of OSA, except for thyroidectomy. This case report suggests that goiter can be considered a risk factor for OSA. However, prospective studies are needed to accurately assess the effects of goiter on the occurrence of OSA according to its dimensions and local extension.
Introduction and importance: The extragastrointestinal stromal tumor (EGIST) is defined as a mesenchymal neoplasm arising from soft tissues outside the gastrointestinal tract, and the prostate is a rare presentation site. Case presentation: A 58-year-old man was presented with lower urinary tract symptoms for 6 months. A digital rectal examination revealed a markedly enlarged prostate with a smooth, bulging surface. Prostate-specific antigen density was 0.5 ng/ml. MRI of the prostate showed an enlarged prostatic mass with hemorrhagic necrosis. Transrectal ultrasound-guided prostate biopsy was performed and pathological reports suggested a gastrointestinal stromal tumor. The patient refused radical prostatectomy and received only imatinib treatment. Clinical discussion: The diagnosis of EGIST of the prostate is extremely rare and depends on the histopathologic features with immunohistochemical results. The treatment is essentially based on radical prostatectomy, but there are other therapeutic modalities associating surgery with adjuvant or neoadjuvant chemotherapy. For patients refusing surgery, treatment with imatinib alone appears to be a therapeutic solution. Conclusion: Despite the rarity, EGIST of the prostate should be included in the differential diagnosis of patients presenting with lower urinary tract symptoms. There is no consensus regarding the treatment of EGIST, and the patients are treated as per the risk stratification.
Introduction and importance: Paratesticular liposarcoma (PTL) is a rare condition, with fewer than 200 cases reported worldwide. It is a malignant tumor that originates from fat tissue with high risk of recurrence. Herein, the authors present a contralateral recurrence of a treated PTL. To the best of the authors’ knowledge, in the current literature, there are few cases reported with recurrent PTL. Case presentation: The authors report the case of a 62-year-old man who presented with a rapidly growing painless right hemiscrotal swelling. Clinical and radiographic evidence suggested the presence of two paratesticular tumors. The patient underwent a radical orchidectomy with resection of the two tumors through an inguinal approach. The histologic examination revealed a sclerosing, well-differentiated liposarcoma. The decision of the multidisciplinary consultation meeting was not to do adjuvant treatment. A follow-up of 12 months showed recurrence of the contralateral scrotum revealed by an FDG-PET/scan. Clinical discussion: PTL, a rare spermatic cord tumor, affects adults aged 50–60, often presenting with scrotal swelling. Diagnosis involves ultrasound, computed tomography, and magnetic resonance imaging. Surgical intervention, including radical orchiectomy and adjuvant radiotherapy, is common for management, while the role of chemotherapy is inconclusive. High-grade subtypes carry a higher recurrence risk. Conclusion: PTL is often misdiagnosed preoperatively. It is typically managed through radical orchidectomy, which includes wide excision and high ligation to ensure free surgical margins and avoid recurrence. The role of adjuvant therapy remains debatable. Despite a generally favorable prognosis, long-term follow-up is crucial because of the elevated risk of recurrence.
16 May 2024 in Journal of Science of the University of Kelaniya
Quantification of BCR-ABL after treatment with tyrosine kinase inhibitors is an important therapeutic indicator for patients with chronic myeloid leukaemia (CML). An international scale (IS) for BCR-ABL was established in 2012 to improve the comparability of results between different laboratories. BCR-ABL measurement is technically challenging, especially in developing countries where the process of standardization isn’t easily available. The aim of this study was to assess the technical advantages of reporting results on the IS using the GeneXpert BCR-ABL assay, compared to the RQ-PCR standard method currently recommended by the European Leukaemia Network but not standardised in our laboratory and to compare the results obtained by both methods. BCR-ABL transcript quantification was performed in 51 samples from CML patients by both methods. The operator hands-on time was reduced using the automated method. A good linear correlation was observed in the results between the two methods. The concordance at logarithmic intervals reached 64%. When the major molecular response (MMR) and the early molecular response (EMR) were analysed, 90% and 80% agreement, respectively, were achieved. However, the discordances in the remaining cases could have misled the therapeutic approach if only a standard method was used. The complexity of the process to establish a laboratory-specific conversion factor in developing countries can be overcome by the use of the GeneXpert automated system, which represents a rapid, accurate and reliable clinical tool to correctly define molecular responses on the IS and to allow clinicians to achieve better patient management.