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Keywords: adult onset; Alexander disease; GFAP mutation; inflammation EN adult onset Alexander disease GFAP mutation inflammation 1 5 5 09/01/23 20230801 NES 230801 Key points We describe the B NM 002055.5 I (GFAP): c.592C>T (p. Arg198Trp) i b variant as a novel adult-onset Alexander disease (AxD)-associated pathogenic variant in two unrelated patients. The florid inflammatory infiltrate including B cells and plasma cells observed in the tissue sample from the medulla of the first patient is a hitherto unreported finding in AxD human cases and animal models. A sagittal diameter of the medulla oblongata <9.0 mm, medulla oblongata/midbrain <0.60 and sagittal medulla oblongata/pons <0.46 showed high sensitivity and specificity, suggesting that these parameters promote the accuracy of diagnosing AxD, even when a I GFAP i gene test is not available [[10]]. Quantitative evaluation of brain stem atrophy using magnetic resonance imaging in adult patients with Alexander disease. [Extracted from the article]

• Anncaliia algerae is a rare but life threatening microsporidial myositis in an immunocompromised patient. • Clinical presentation can mimic polymyositis. • A timely muscle biopsy can lead to diagnosis and the commencement of directed therapy which is essential for cure. We report the first New Zealand case of Anncaliia algerae myositis in a 55-year-old man with a history of psoriatic arthritis, treated with long-term immunosuppressive therapy. He resided in the city of Rotorua, which is famous for geothermal hot springs. A vastus lateralis muscle biopsy was performed to investigate the cause of an unexplained myositis. Light microscopy demonstrated a necrotizing myositis with scattered clusters of ovoid spores within the myocyte cytoplasm resembling microsporidia. DNA analysis by PCR and electron microscopy confirmed microsporidial myositis with features characteristic of A. algerae. Immunosuppressive drugs were stopped and the patient was treated with cholestyramine wash and albendazole. The patient deteriorated with involvement of bulbar and respiratory muscles requiring intensive care and ventilation. He died 3 weeks after diagnosis. Post-mortem examination of skeletal muscle from tongue and intercostal muscles also revealed numerous organisms confirming disseminated disease. [ABSTRACT FROM AUTHOR]

Introduction: Papillary Thyroid cancer (PTC) is the most common malignancy encountered by endocrine surgeons accounting for up to 85% to 90% of all thyroid malignancies. Parathyroid metastases appear to be an uncommon phenomenon however are likely to be underdiagnosed due to routine parathyroid gland preservation during thyroidectomy. Case: We present the case of 63-year-old lady with PTC metastases to the parathyroid gland. She underwent total thyroidectomy, central compartment lymph node dissection and selective left neck (levels IIA-IV) lymph node dissection. Final pathology confirmed a 45 mm low grade conventional type papillary carcinoma with microscopic extension into perithyroidal soft tissue focally and into the adjacent left parathyroid gland. Conclusion: Parathyroid gland thyroid cancer infiltration/metastasis is rarely reported and likely underdiagnosed. This is the first case of parathyroid gland metastasis reported from New Zealand or Australia to our knowledge. There is currently limited research available to guide whether parathyroid gland infiltration or metastasis is of clinical or prognostic significance and whether a more aggressive treatment strategy is warranted when present. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Papillary Thyroid cancer (PTC) is the most common malignancy encountered by endocrine surgeons accounting for up to 85% to 90% of all thyroid malignancies. Parathyroid metastases appear to be an uncommon phenomenon however are likely to be underdiagnosed due to routine parathyroid gland preservation during thyroidectomy. CASE: We present the case of 63-year-old lady with PTC metastases to the parathyroid gland. She underwent total thyroidectomy, central compartment lymph node dissection and selective left neck (levels IIA-IV) lymph node dissection. Final pathology confirmed a 45 mm low grade conventional type papillary carcinoma with microscopic extension into perithyroidal soft tissue focally and into the adjacent left parathyroid gland. CONCLUSION: Parathyroid gland thyroid cancer infiltration/metastasis is rarely reported and likely underdiagnosed. This is the first case of parathyroid gland metastasis reported from New Zealand or Australia to our knowledge. There is currently limited research available to guide whether parathyroid gland infiltration or metastasis is of clinical or prognostic significance and whether a more aggressive treatment strategy is warranted when present. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 37-year-old man that pass through a percutaneous renal biopsy as part for proteinuria investigation. It says that two glomeruli has showed focal segmental sclerosis with hyalinosis. It tells that there were no electron dense deposits present within the glomerulus and the final diagnosis of focal segmental glomerulosclerosis with hyalinosis was provided. Moreover, embolic tubular epithelial cells should be spotted as a needle biopsy artifact.

The Δ133p53β isoform is increased in many primary tumors and has many tumor-promoting properties that contribute to increased proliferation, migration and inflammation. Here we investigated whether Δ133p53β contributed to some of the most aggressive tumors that had metastasized to the brain. Δ133p53β mRNA expression was measured in lung, breast, melanoma, colorectal metastases and, where available, the matched primary tumor. The presence of Δ133p53β expression was associated with the time for the primary tumor to metastasize and overall survival once the tumor was detected in the brain. Δ133p53β was present in over 50% of lung, breast, melanoma and colorectal metastases to the brain. It was also increased in the brain metastases compared with the matched primary tumor. Brain metastases with Δ133p53β expressed were associated with a reduced time for the primary tumor to metastasize to the brain compared with tumors with no Δ133p53β expression. In-vitro-based analyses in Δ133p53β-expressing cells showed increased cancer-promoting proteins on the cell surface and increased downstream p-AKT and p-MAPK signaling. Δ133p53β-expressing cells also invaded more readily across a mock blood–brain barrier. Together these data suggested that Δ133p53β contributes to brain metastases by making cells more likely to invade the brain. [ABSTRACT FROM AUTHOR]

Glioblastoma (GBM) is the most common primary malignant brain tumour in adults. The standard of care consists of surgical resection and concurrent chemoradiation, followed by adjuvant temozolomide chemotherapy. This protocol is associated with a median survival of 12–15 months, and <5% of patients survive >3 years. Ketogenic metabolic therapy (KMT) targets cancer cell metabolism by restricting glucose availability and evoking differential stress resistance and sensitization, which may augment the standard treatments and lead to therapeutic benefit. The present study reports the case of a 64-year-old woman with isocitrate dehydrogenase (IDH)-wildtype GBM who pursued the standard treatment protocol in conjunction with an intensive, multimodal KMT program for 3 years. The KMT program consisted of a series of prolonged (7-day, fluid-only) fasts, which were specifically timed to maximize the tolerability and efficacy of the standard treatments, combined with a time-restricted ketogenic diet on all other days. During the first and second treatment years the patient sustained a glucose ketone index (GKI) of 1.65 and 2.02, respectively, which coincided with complete clinical improvement, a healthy body-mass index and a high quality of life, with no visible progressive tumour detected on imaging at the end of the second year. In the setting of the death of an immediate family member leading to increased life stress, slightly relaxed KMT adherence, and a higher GKI of 3.20, slow cancer progression occurred during the third year. The adverse effects attributed to KMT were mild. Despite the limitations of this case report, it highlights the feasibility of implementing the standard treatment protocol for GBM in conjunction with an intensive, long-term, multimodal and specifically timed KMT program, the potential therapeutic efficacy of which may depend upon achieving as low a GKI as possible. [ABSTRACT FROM AUTHOR]

Melanotic schwannoma is a rare form of nerve sheath tumor composed of melanin-producing neoplastic Schwann cells. Less than 200 cases have been reported worldwide. The entity has been associated with Carney complex, a rare genetic disorder characterized by multiple benign tumors. A 38-year-old female presented to our unit with sudden-onset lower back pain and radiculopathy triggered by a mechanical injury. Imaging demonstrated a lesion within the left L5/S1 neural exit foramen with remodeling of bony architecture typical of a chronic, benign process. She proceeded for resection and histology revealed a psammomatous melanotic schwannoma. The patient recovered well with improvement in symptomology. Due to the aggressive nature of the disease, she remains under surveillance for local recurrence and distant metastasis. Clinicians should be aware of this malignant entity, despite its possible presentation with radiological features of a chronic, benign process. Unusual characteristics such as hemorrhage should be treated with a high index of suspicion. [ABSTRACT FROM AUTHOR]

Background: Extracranial metastasis from intracranial meningioma is a very rare condition. A current literature review reveals that only few cases are documented with extensive pulmonary involvement >10 years after initial intracranial meningioma resection. Diagnosis of pulmonary meningioma is often confirmed by computed tomography chest-guided core biopsies. The prognosis of extensive metastatic pulmonary meningioma, however, is unknown and there is no gold standard treatment option. Case Description: We present a case of multiple pulmonary meningioma metastases developing 13 years after initial resection of left occipital parafalcine World Health Organization Grade I intracranial meningioma. Conclusion: There are no established guidelines for the optimal management or surveillance of extensive pulmonary metastatic meningioma. In patients with high-grade meningioma and multiple cannonball pulmonary lesions, metastatic meningioma should be considered as part of the differential diagnosis. Metastatic meningioma may occur even a decade after initial tumour resection. [ABSTRACT FROM AUTHOR]