CLINICAL CASE: A 56-year-old Chinese woman, an active smoker, presented with a hearing deficit, persistent tinnitus and nasal congestion. Examination and investigations revealed the presence of a mass in the nasopharynx. Tissue biopsy revealed nasopharyngeal carcinoma. However, the Epstein-Barr virus was not tested. She was counseled for chemotherapy, but refused and was subsequently lost to follow up. She presented one year later with right eye ptosis associated with progressive worsening of diplopia and blurring of vision. Examination revealed multiple (second, third, fourth and sixth) cranial nerve involvement. Systemic examination and investigations revealed cervical lymphadenopathy and liver metastasis. Repeated imaging showed that the mass had invaded the base of the skull, cavernous sinus and orbital apices. Pulse dosing of corticosteroid therapy was commenced, resulting in dramatic improvement of vision.
CONCLUSION: Optic neuropathy may be the presenting sign of NPC. Corticosteroid therapy can offer immediate visual improvement.
CONCLUSION: Optic nerve infiltration in systemic metastatic retinal lymphoma may have initial occult signs but with profound visual loss. Ocular infections like CMV retinitis and tuberculosis may mask and delay the diagnosis in immunocompromised patients.
METHODS: Patients with solid pancreatic lesions ≤ 15 mm in size and a definite diagnosis were included. Lesion stiffness relative to the surrounding pancreatic parenchyma, as qualitatively assessed and documented at the time of EUS elastography, was retrospectively compared with the final diagnosis obtained by fine-needle aspiration/biopsy or surgical resection.
RESULTS: 218 patients were analyzed. The average size of the lesions was 11 ± 3 mm; 23 % were ductal adenocarcinoma, 52 % neuroendocrine tumors, 8 % metastases, and 17 % other entities; 66 % of the lesions were benign. On elastography, 50 % of lesions were stiffer than the surrounding pancreatic parenchyma (stiff lesions) and 50 % were less stiff or of similar stiffness (soft lesions). High stiffness of the lesion had a sensitivity of 84 % (95 % confidence interval 73 % - 91 %), specificity of 67 % (58 % - 74 %), positive predictive value (PPV) of 56 % (50 % - 62 %), and negative predictive value (NPV) of 89 % (83 % - 93 %) for the diagnosis of malignancy. For the diagnosis of pancreatic ductal adenocarcinoma, the sensitivity, specificity, PPV, and NPV were 96 % (87 % - 100 %), 64 % (56 % - 71 %), 45 % (40 % - 50 %), and 98 % (93 % - 100 %), respectively.
CONCLUSIONS: In patients with small solid pancreatic lesions, EUS elastography can rule out malignancy with a high level of certainty if the lesion appears soft. A stiff lesion can be either benign or malignant.
CASE PRESENTATION: A 25 years old female had neglected an extremely large midline sacral mass for 2 years. On presentation to hospital, she had been bed bound for the past 2 years. The sacral mass was so large that it prevented her from lying down supine and sitting on the wheelchair comfortably. Clinical examination showed a 40 cm × 30 cm × 20 cm hard mass over the sacrum that involved both buttocks and the gluteal fold. Neurological exam of bilateral lower limb was normal. Computed Tomography Scan of the Pelvis showed a large destructive sacrococcygeal mass measuring 43 cm × 38 cm × 27 cm with extension into the presacral space resulting in anterior displacement of the rectum, urinary bladder and uterus; and posterior extension into the dorsal soft tissue with involvement of the gluteus, piriformis, and left erector spinae muscles. Biopsy taken confirmed Chordoma. This patient was managed by a multidisciplinary team in an Oncology referral centre. The patient had undergone Wide En Bloc Resection and Sacrectomy, a complex surgery that was associated with complications namely bleeding, surgical site infection and neurogenic bowel and bladder. Six months post operatively the patient was able to lie supine and sit on wheelchair comfortably. She required extensive rehabilitation to help her ambulate in future.
CONCLUSION: This is a rare case of neglected sacral chordoma in a young female treated with Wide En Bloc Resection and Sacrectomy associated with complications of this complex surgery. Nevertheless, surgery is still worthwhile to improve the quality of life and to prevent complications secondary to prolonged immobilization. A multidisciplinary approach is ideal and team members need to be prepared to address the complications once they arise.
AIM: To evaluate the accuracy of MACK-3 for the diagnosis of fibrotic NASH.
METHODOLOGY: Consecutive adult non-alcoholic fatty liver disease (NAFLD) patients who had liver biopsy in a university hospital were included. MACK-3 was calculated using the online calculator using the following variables: fasting glucose, fasting insulin, aspartate aminotransferase (AST) and cytokeratin 18 (CK18). MACK-3 cut-offs ≤0.134 and ≥0.550 were used to predict absence and presence of fibrotic NASH, respectively. Histopathological examination of liver biopsy specimen was reported according to the NASH Clinical Research Network Scoring System.
RESULTS: Data for 196 subjects were analysed. MACK-3 was good for diagnosis of fibrotic NASH (area under receiver-operating characteristics curve [AUROC] 0.80), comparable to the Fibrosis-4 index (FIB4) and the NAFLD fibrosis score (NFS) and superior to the BARD score and CK18. MACK-3 was good for diagnosis of active NASH (AUROC 0.81) and was superior to other blood fibrosis tests. The overall accuracy, percentage of subjects in grey zone, sensitivity, specificity, positive predictive value and negative predictive value of MACK-3 for diagnosis of fibrotic NASH was 79.1%, 46.9%, 100%, 43.8%, 43.1% and 100%, respectively, while for diagnosis of active NASH was 90.0%, 39.3%, 84.2%, 81.4%, 88.9% and 74.5%, respectively.
CONCLUSION: MACK-3 is promising as a non-invasive test for active NASH and fibrotic NASH and may be useful to identify patients who need more aggressive intervention.
METHODS: In this study, we applied a diverse selection of presequencing enrichment methods targeting all major viral groups, to characterize the viruses present in 197 samples from 18 sample types of cancerous origin. Using high-throughput sequencing, we generated 710 datasets constituting 57 billion sequencing reads.
RESULTS: Detailed in silico investigation of the viral content, including exclusion of viral artefacts, from de novo assembled contigs and individual sequencing reads yielded a map of the viruses detected. Our data reveal a virome dominated by papillomaviruses, anelloviruses, herpesviruses, and parvoviruses. More than half of the included samples contained 1 or more viruses; however, no link between specific viruses and cancer types were found.
CONCLUSIONS: Our study sheds light on viral presence in cancers and provides highly relevant virome data for future reference.
CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.