Lifethreatening tracheal obstruction in a child caused by nodular fasciitis: case presentation

Background Nodular fasciitis (NF) is a rare non-neoplastic inflammatory tumor and usually presents as a painless, rapidly growing subcutaneous soft tissue mass. The head and neck are relatively common locations for nodular fasciitis, particularly in children. NF in the trachea is rare and may evolve to a fatal condition, especially due to its rapidly growing nature that can cause life-threatening tracheal obstruction. Case presentation We report the case of a 5-year-old child with NF in the trachea and subtotal tracheal obstruction. Bronchoscopy and biopsy proved the diagnosis, and bronchoscopic excision of the tumor was performed. Conclusions NF is a rare airway tumor, occurring mostly in adults, and may presenting with pneumonia-like symptoms. Early detection of the lesion is essential to avoid life-threatening airway obstruction.

Small Blubber Samples (50 mg) Sufficient for Analyses of 10 Stress and Reproductive Steroid Hormones in Gray and Fin Whales via Liquid Chromatography Mass Spectrometry

Information on stress, reproductive fitness, and health is difficult to obtain in wild cetaceans but critical for conservation and management. The goal of this study was to develop a methodology requiring minimal blubber mass for analysis of reproductive and stress steroid hormones and, hence, suitable for cetacean biopsies. Blubber biopsies and samples were collected from free-ranging and stranded gray and fin whales. Steroid hormones were extracted from blubber samples as small as 50 mg using liquid-liquid extraction methodology developed to handle the high fat content of blubber. Samples were analyzed via liquid chromatography with tandem mass spectrometry for 10 hormones: aldosterone, androstenedione, cortisol, cortisone, corticosterone, 17β-estradiol, estrone, 17α-hydroxyprogesterone, progesterone, and testosterone. As part of the optimization, homogenization via bead beating and blade dispersion were compared, and the former found superior. To investigate optimal yet minimal tissue mass required, hormone panels were compared among paired 50, 150, and 400 mg samples, the latter two being commonly reported masses for hormone blubber analysis. Results indicated that 50 mg of blubber was suitable and sometimes superior. Additionally, significant differences in precision values were observed between species, possibly stemming from differences in blubber composition, and relevant to homogenization technique selection and calibration methods that use blubber matrix matches obtained from a species other than the study species. Based on recovery and precision values, our methodology was accurate and precise in the measurement of spiked known quantities for all 10 hormones, confirming the methodology capabilities in 50 mg blubber mass in both species. Altogether, and in our specific sample sets, all endogenous hormones, except corticosterone, were identified above the detection limit in 50 mg gray whale blubber samples while all endogenous hormones, except aldosterone, cortisone, estrone, and progesterone, were detected in 50 mg fin whale blubber samples. We present a robust methodology for the analysis of multiple reproductive and stress steroid hormones in minimal masses of cetacean blubber compatible with small biopsies. Finally, we identified statistically significant differences in corticosteroid concentrations between stranded and free ranging animals.

Tryptophan Metabolism Is Associated with BMI and Adipose Tissue Mass and Linked to Metabolic Disease in Pediatric Obesity

The obesity epidemic has contributed to an escalating prevalence of metabolic diseases in children. Overnutrition leads to increased tryptophan uptake and availability. An association between the induction of the tryptophan catabolic pathway via indoleamine 2,3-dioxygenase (IDO) activity and obesity-related inflammation has been observed. This study aimed to investigate the impact of pediatric obesity on tryptophan metabolism and the potential relationship with metabolic disease. In this prospective cohort study, plasma kynurenine, tryptophan, and serotonin levels were measured by ELISA, and IDO activity was estimated by calculating the kynurenine/tryptophan ratio in a clinically characterized population with severe obesity (BMI ≥ 97th percentile) aged 9 to 19 (n = 125). IDO activity and its product kynurenine correlated with BMI z-score and body fat mass, whereas concentrations of serotonin, the alternative tryptophan metabolite, negatively correlated with these measures of adiposity. Kynurenine and tryptophan, but not serotonin levels, were associated with disturbed glucose metabolism. Tryptophan concentrations negatively correlated with adiponectin and were significantly higher in prediabetes and metabolically unhealthy obesity. In conclusion, BMI and body fat mass were associated with increased tryptophan catabolism via the kynurenine pathway and decreased serotonin production in children and adolescents with severe obesity. The resulting elevated kynurenine levels may contribute to metabolic disease in obesity.

Features of infective native aortic aneurysms on computed tomography

Background Infective native aortic aneurysm (INAA) is a rare clinical diagnosis. The purpose of this study was to describe the CT findings of INAAs in detail. Methods This was a retrospective single-center study of INAA patients at a major referral hospital between 2005 and 2020. All images were reviewed according to a protocol consisting of aneurysm features, periaortic findings, and associated surrounding structures. Results One hundred and fourteen patients (mean age, 66 years [standard deviation, 11 years]; 91 men) with 132 aneurysms were included. The most common locations were infrarenal (50.8%), aortoiliac (15.2%), and juxtarenal (12.9%). The mean transaxial diameter was 6.2 cm. Most INAAs were saccular (87.9%) and multilobulated (91.7%). Calcified aortic plaque was present in 93.2% and within the aneurysm in 51.5%. INAA instability was classified as contained rupture (27.3%), impending rupture (26.5%), and free rupture (3.8%). Rapid expansion was demonstrated in 13 of 14 (92.9%) aneurysms with sequential CT studies. Periaortic inflammation was demonstrated as periaortic enhancement (94.7%), fat stranding (93.9%), soft-tissue mass (92.4%), and lymphadenopathy (62.1%). Surrounding involvement included psoas muscle (17.8%), spondylitis (11.4%), and perinephric region (2.8%). Twelve patients demonstrated thoracic and abdominal INAA complications: fistulas to the esophagus (20%), bronchus (16%), bowel (1.9%), and inferior vena cava (IVC) (0.9%). Conclusion The most common CT features of INAA were saccular aneurysm, multilobulation, and calcified plaques. The most frequent periaortic findings were enhancement, fat stranding, and soft-tissue mass. Surrounding involvement, including psoas muscle, IVC, gastrointestinal tract, and bronchi, was infrequent but may develop as critical INAA complications.

Bilateral intraocular and lung involvements associated with Nasal NK/T-cell lymphoma

Background To report a rare case of nasal natural killer/T (NK/T) cell lymphoma with bilateral intraocular and lung metastasis and to further describe the clinical features of intraocular manifestations. Case presentation A 54-year-old man presented with a 3-month history of left nasal congestion, and bilateral vision impairment of one week duration. Subsequent maxillary computed tomography (CT) and multiple biopsies confirmed the diagnosis of nasal NK/T-cell lymphoma. EBV-encoded small RNA (EBER) in situ hybridization revealed EBV infection. A comprehensive ophthalmic examination found lymphoma-associated retinopathy and choroidopathy, which presented as bilateral diverse patterns and retinal detachment. In addition, the chest CT showed multiple scattered nodules in both lungs, and soft-tissue mass in the left hilum with mediastinal and axillary lymphadenopathy. The condition of this patient deteriorated rapidly and he died shortly after diagnosis. Conclusions The rarity of secondary ocular NK/T-cell lymphoma makes it challenging to identify these tumors early. Both otolaryngologist and ophthalmologists should be aware of ocular involvement and other secondary manifestations of NK/T-cell lymphoma.

Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report

BackgroundPrimary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain containing 2 (MB21D2), polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), and AT-rich interaction domain 2 (ARID2) mutations, which was confirmed after surgical resection pathologically.Case SummaryA 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3–4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.ConclusionThis is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors.

Giant Soft Tissue Sarcoma of Scalp with Skull and Cerebral Invasion

Scalp soft tissue sarcomas (STS) are very rare accounting for less than 0.1% of all malignancies. We report a rare clinical image of advanced stage soft tissue sarcoma of the scalp. A 65 year woman had presented to the surgical department with complaints of a rapidly growing swelling over the scalp for three months. On examination there was huge 20 x 20 cm swelling over the scalp in the left temporoparietal region with variegated consistency. Computed tomography of head revealed a large soft tissue mass with necrosis invading the bone and underlying brain parenchyma. Histopathological finding from core needle biopsy revealed pleomorphic sarcoma. STS are highly malignant tumors which should be diagnosed and treated using multimodality approach. Recurrences are common even after complete resection and prognosis is poor.

Intra and extraarticular localized pigmented villonodular synovitis

<p class="abstract">A 28 year old woman had a history of knee trauma and presented with unilateral knee acute swelling and pain symptoms with sudden onset, which was there from last 2 years. She had been treated for seronegative rheumatoid patient for 1 year. Recent expansion of the LPVNS (localized pigmented villonodular synovitis) caused the development of a tender palpable soft tissue mass in the anterolateral aspect of the knee and acute reduced mobility. Preoperative magnetic resonance imaging of the knee revealed the presence of only the soft tissue mass and mild degenerative changes. Open synovectomy was performed successfully to excise the mass. Intraoperatively, macroscopic features of the bright brown inflamed synovium suggested LPVNS, which was confirmed histopathologically. Postoperatively, the symptoms of limited mobility and pain were appreciably relieved. Recurrence was not observed during the clinical follow up at 1, 6 or 18 months after surgery. Here, we reported the unique case of localized pigmented villonodular synovitis of the knee in a misdiagnosed patient with intra and extraarticular lesion, which might be attributed to the history of knee trauma and the focal defect of the lateral patellar retinaculum. Open synovectomy effectively relieved the symptoms of limited mobility and pain and no recurrence was observed prior to 18 months postoperatively. To reduce misdiagnosis, MRI examinations are recommended for all patients suspected of having PVNS, including those who have a history of hyperuricemia.</p>

Magnetic resonance imaging features of “Proximal” hirayama disease: Case report and literature review

Background: Proximal “Hirayama” disease (PHD) is characterized by proximal upper extremity atrophy. It is a rare variant of Hirayama disease (HD) which involves the proximal upper limb. Recognition of PHD’s unique magnetic resonance (MR) findings is critical as the treatment options differ versus classical HD. Case Description: A 17-year-old male presented with gradual progressive upper extremity weakness and atrophy. On MR, PHD was demonstrated by C4-C5 kyphosis with a posterior epidural soft-tissue mass compressing the C4-C5 cord resulting in gliosis. As the patient declined surgery, he was followed for 1 year with a cervical collar during which time his deficit stabilized. Conclusion: PHD, characterized by proximal upper extremity weakness and atrophy, has characteristic MR findings of kyphosis associated with cord compression and ischemia/gliosis. Select patients as the one we described who decline surgery may stabilize radiographically and clinically with the protracted utilization of a cervical collar.

Crouching carcinoma, hidden ureter: A blind ending burnt out cancerous moiety

Background: A 76-year-old male presenting with macroscopic haematuria was found to have a lobulated mass infiltrating along the urothelium at the site of insertion of the upper moiety of a complete duplex right kidney. Suspected of being upper tract urothelial carcinoma, cystoscopy, bilateral retrograde pyelograms and transurethral resection of bladder tumour were attempted. Intra-operative findings revealed no tumour burden in the bladder or left ureter. The insertion of the upper pole moiety of the right ureter was not identified intra-operatively. Pelvic MRI demonstrated a markedly dilated upper pole moiety of the right ureter with a soft tissue mass in its distal aspect. Interestingly, the distal portion of the ectopic upper pole moiety was found to insert into the bladder neck. Objective and Methods: We report on an unusual case of upper tract urothelial carcinoma arising from the upper moiety of a complete duplex kidney. Our aim was to demonstrate the importance of thorough investigation of suspected urothelial carcinomas occurring in association with variant upper tract anatomy. Results and Conclusion: This case demonstrates the importance of thorough radiological and endourological investigation of suspected upper tract urothelial carcinoma and the various congenital abnormalities that may complicate the surgical management of this common malignancy. Level of evidence: 4 (case report)