Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.

Transthyretin amyloidosis can be either the wild-type (ATTR-wt) or the hereditary form (ATTR-m) with autosomal dominant inheritance. ATTR seems to be an underdiagnosed disease, despite now being recognized as one of the most frequent causes of heart failure (HF) with preserved ejection fraction. The confirmation of diagnosis includes a genetic analysis as a critical step to distinguish between ATTR-wt and hereditary amyloidosis. The present study aimed to evaluate the potential application of High-Resolution Melting (HRM) analysis for identifying gene mutations in patients with suspected ATTR-m. We have adapted and validated the use of HRM for TTR mutations. We, therefore, sequenced the TTR gene and used HRM in a group of 134 patients suspected of suffering from amyloidosis. Seven patients were diagnosed with mutations in the TTR gene (p.Glu74Gln, heterozygous p.Val142Ile, and homozygous p.Val142Ile). HRM is capable of clearly detecting these TTR mutations, including the heterozygous and homozygous variants. The results show a 100% correlation between the HRM study and TTR sequencing. These results support future studies of applying HRM analysis as a diagnostic approach for ATTR-m, mainly for epidemiological studies.

First data of Neandertal bird and carnivore exploitation in the Cantabrian Region (Axlor; Barandiaran excavations; Dima, Biscay, Northern Iberian Peninsula).

Neandertals were top predators who basically relied on middle- to large-sized ungulates for dietary purposes, but there is growing evidence that supports their consumption of plants, leporids, tortoises, marine resources, carnivores and birds. The Iberian Peninsula has provided the most abundant record of bird exploitation for meat in Europe, starting in the Middle Pleistocene. However, the bird and carnivore exploitation record was hitherto limited to the Mediterranean area of the Iberian Peninsula. Here we present the first evidence of bird and carnivore exploitation by Neandertals in the Cantabrian region. We have found cut-marks in two golden eagles, one raven, one wolf and one lynx remain from the Mousterian levels of Axlor. The obtaining of meat was likely the primary purpose of the cut-marks on the golden eagle and lynx remains. Corvids, raptors, felids and canids in Axlor could have likely acted as commensals of the Neandertals, scavenging upon the carcasses left behind by these hunter-gatherers. This could have brought them closer to Neandertal groups who could have preyed upon them. These new results provide additional information on their dietary scope and indicate a more complex interaction between Neandertals and their environment.

Primary esophageal melanoma: report of a case.

INTRODUCTION: Primary malignant melanoma of the esophagus is a rare tumor representing only 0.1-0.2% of esophageal malignancies. The goal of the study was to report on the management of a new case diagnosed and treated in our site. CASE REPORT: A 67-year-old patient presented with dysphagia to solids with no other remarkable history or associated skin lesions. He underwent gastroscopy, which revealed a polypoid mass suggestive of neoplasm in the distal third of the esophagus. Biopsy indicated melanoma with positive immunohistochemical markers S100 and HMB45, and negative cytokeratins and CEA. Computerized tomography (CT) and positron-emission tomography (PET) scans showed no local infiltration or distant metastases. An Ivor-Lewis esophagectomy procedure was performed with regional lymphadenectomy. Postoperative stay lasted for three weeks, and no remarkable postsurgical complications arose. The pathological study of the specimen confirmed the diagnosis of primary esophageal melanoma. DISCUSSION: Primary malignant melanoma of the esophagus has an unfortunate prognosis as it is an aggressive tumor usually diagnosed at an advanced stage, with local invasion and metastatic disease. Currently, surgery is the treatment of choice, with the remaining adjuvant therapies obtaining limited results.