Hoarseness as the initial presentation of multiple myeloma.

Key Clinical Message: Myeloma of the thyroid cartilage is a rare but important differential diagnosis of a laryngeal mass. Although hoarseness as the initial presenting symptom in multiple myeloma is extremely rare, a clinician should always consider it. Abstract: Multiple myeloma (MM) is a malignant plasma cell disorder characterized by an uncontrolled proliferation of monoclonal plasma cells. Although the clinical presentation at diagnosis can be quite variable, thyroid cartilage infiltration in MM is rare. Here we discuss a 65-year-old Caucasian male presenting to the ENT doctor with continuous hoarseness for 3 months. The initial clinical examination showed a tangible mass at the left lymph node level II-III. Further examination with fiber-optic laryngoscopy showed a bulging of the aryepiglottic and ventricular fold. Neck and chest CT scan revealed multiple osteolytic bone lesions in addition to the large lesion in the left thyroid cartilage. Laboratory work-up, PET-CT scan and biopsy of the thyroid cartilage were performed and eventually all confirmed the presence of a new diagnosis of IgA kappa MM. The patient was referred to the department of hematology to start with chemotherapy.

Efficacy and histopathological effects of self-assembling peptides RADA16 and IEIK13 in neurosurgical hemostasis.

There is a continued need for effective hemostatic agents that are safe for neurosurgical use. Self-assembling peptide hydrogels have been suggested as novel hemostatic agents. They offer some advantages for neurosurgical hemostasis (e.g., transparency), but their efficacy and safety for neurosurgery have not been established. In this paper, the efficacy and safety of two self-assembling peptides, RADA16 and IEIK13, are explored for hemostasis of oozing bleeding on the rat cerebral cortex (n = 56). Chronic safety was evaluated by neuropathological evaluation at one, four, and twelve weeks after craniotomy (n = 32). An inactive control and oxidized cellulose served as comparators. Mean time-to-hemostasis was significantly shorter for RADA16 and IEIK13 compared to controls, while safety evaluation yielded similar results. Histopathological response consisted primarily of macrophage infiltration at the lesion site in all groups. This study confirms the hemostatic potential and safety of RADA16 and IEIK13 for hemostasis in the rat brain.

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder of brain angiogenesis. PVHH has long been considered to be prenatally lethal. We evaluated the phenotypes of the first three siblings with survival into adulthood, performed a systematic review of the Fowler syndrome literature and delineated genotype-phenotype correlations using a scoring system to rate the severity of the disease. Thirty articles were included, describing 69 individual patients. To date, including our clinical reports, 72 patients have been described with Fowler syndrome. Only 6/72 (8%) survived beyond birth. Although our three patients carry the same mutations (c.327T>A-p.Asn109Lys and c.887C>T-p.Ser296Leu) in FLVCR2, only two of them presented with the same cerebral features, ventriculomegaly and cerebral calcifications, as affected fetuses. The third sibling has a surprisingly milder clinical and radiological phenotype, suggesting intrafamilial variability. Although no clear phenotype-genotype correlation exists, some variants appear to be associated with a less severe phenotype compatible with life. As such, it is important to consider Fowler syndrome in patients with gross ventriculomegaly, cortical malformations and/or cerebral calcifications on brain imaging.

Next-generation protein analysis in the pathology department.

Traditionally, immunohistochemistry (IHC) is used by pathologists to localise specific proteins or peptides in tissue slides. In the era of personalised medicine, however, molecular tissue analysis becomes indispensable for correct diagnosis, prognosis and therapeutic decision, not only on the DNA or mRNA level but also on the protein level. Combining molecular information with imaging presents many advantages. Therefore, matrix-assisted laser desorption/ionisation imaging mass spectrometry (MALDI IMS) is a promising technique to be added to the armamentarium of the pathologist. Here, we focus on the workflow, advantages and drawbacks of both MALDI IMS and IHC. We also briefly discuss a few other protein imaging modalities and give examples of applications.