WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Clinical Oral Investigations - The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of...     

E-Cadherin in Colorectal Cancer: Relation to Chemosensitivity

Background

The conventional chemotherapy of colorectal cancer with irinotecan, 5-fluorouracil, and oxaliplatin remains one of the front-line treatments worldwide. However, its efficacy is quite low. Recently studies of the epithelial–mesenchymal transition (EMT) have become the focus of investigations into the cause of chemoresistance in several types of cancer, including colorectal cancer. The data about the role of EMT in chemosensitivity are controversial.

Roux-en-Y gastric bypass for nonobese patients with uncontrolled type 2 diabetes: a long-term evaluation

BackgroundThere is growing evidence that the impact of Roux-en-Y gastric bypass (RYGB) on type 2 diabetes (T2D) occurs regardless of the amount of weight loss. Taking this background into consideration, it is plausible to study this procedure in individuals with lower body mass index (BMI) under clinical treatment failure for uncontrolled T2D.ObjectivesTo elucidate the long-term impact of RYGB on T2D regression in a non-obese population.SettingHospital das Clínicas, Federal University of Pernambuco, Brazil.MethodsTwelve patients with BMI 25 to 30 kg/m² and inadequately controlled T2D underwent RYGB and were followed up for 6 years. Fasting plasma glucose, glycated hemoglobin, BMI, and the use of insulin and/or oral hypoglycemic agents were assessed. Each variable was analyzed in 3 distinct moments: preoperative evaluation, 2-year postoperative follow-up (2-PO), and 6-year postoperative follow-up (6-PO).ResultsThere were no cases of early or late mortality. Mean BMI at preoperative evaluation, 2-PO, and 6-PO were 28.1 ± 1.2; 23.2 ± 2.4; and 24.7 ± 3.1, respectively. The lowest BMI at 6-PO was 19.1 kg/m². Complete remission of T2D was achieved in 16.7%, partial remission in another 16.7%, glycemic control in 25%, and glycemic improvement in 25% of the sample at 6-PO; 16.7% did not present positive glycemic outcomes. Only 1 patient needed to resume insulin administration between 2-PO and 6-PO.ConclusionsRYGB was found to be safe and effective in treating uncontrolled T2D in non-obese patients, providing improvements in the glycemic patterns in 83.4% of our sample.     

Behavior and Food Consumption Pattern of the French Polynesian Population in the 1960s –1970s

Background. Reconstruction of radiation doses to the thyroid for a case-control study of thyroid cancer in French Polynesians exposed to radioactive fallout from atmospheric nuclear weapons tests during childhood and adolescence faced a major limitation on very little availability of information on lifestyle of French Polynesians in the 1960s–1970s. Method: We use the focus group discussion and key informant interview methodology to collect historical, for the 1960s–1970s, data on behavior and food consumption for French Polynesia population exposed to radioactive fallout from nuclear weapons tests conducted between 1966 and 1974. Results. We obtained archipelago-specific data on food consumptions by children of different ages and by pregnant and lactating women during pregnancy and breastfeeding and behaviour, including time spent outdoors and type and construction materials of residences. Conclusions. This article presents the first detailed information on several key aspects of daily life on French Polynesian archipelagoes during the 1960s–1970s impacting radiation exposure. Important behavior and food consumptions data obtained in this study are being used to improve the radiation dose estimates and to update the risk analysis reported earlier by correcting biases from previous assumptions and by providing better estimates of the parameter values important to radiation dose assessment.     

Transcirculation Silk Vista Baby-assisted coiling in half-T configuration for the treatment of posterior communicating artery aneurysms associated with a fetal posterior circulation: An alternative flow diversion strategy

Flow diverter devices have become a routine first-line option for treatment of an increasing population of intracranial aneurysms at many neurovascular centers. Despite the promising results of flow diverter stents on anterior circulation, incomplete occlusion on the presence of fetal posterior circulation has been described on several reports. Here we describe a novel technical alternative to conventional flow diversion approach for this specific subgroup of aneurysms using the low-profile flow diverter, Silk Vista Baby. The device was selectively placed into the fetal type posterior cerebral artery in half-T configuration for the treatment of a posterior communicating aneurysm using a transcirculation approach through the anterior communicating artery. This represents a useful and effective technique and should be considered when encountering the above-described situation.     

Collagen-Carboxymethylcellulose Biocomposite Wound-Dressings with Antimicrobial Activity

Microbial infections associated with skin diseases are frequently investigated since they impact on the progress of pathology and healing. The present work proposes the development of freeze-dried, glutaraldehyde cross-linked, and non-cross-linked biocomposite dressings with a porous structure, which may assist the reepithelization process through the presence of collagen and carboxymethylcellulose, along with a therapeutic antimicrobial effect, due to silver nanoparticles (AgNPs) addition. Phisyco-chemical characterization revealed the porous morphology of the obtained freeze-dried composites, the presence of high crystalline silver nanoparticles with truncated triangular and polyhedral morphologies, as well as the characteristic absorption bands of collagen, silver, and carboxymethylcellulose. In vitro tests also assessed the stability, functionality, and the degradability rate of the obtained wound-dressings. Antimicrobial assay performed on Gram-negative (Escherichia coli), Gram-positive (Staphyloccocus aureus) bacteria, and yeast (Candida albicans) models demonstrated that composite wound dressings based on collagen, carboxymethylcellulose, and AgNPs are suitable for skin lesions because they prevent the risk of infection and have prospective wound healing capacity. Moreover, the cell toxicity studies proved that the obtained materials can be used in long time treatments, with no cytotoxic effects.     

Pearls and pitfalls in magnetic resonance imaging of hepatocellular carcinoma

Hepatocellular carcinoma(HCC) is the most common primary hepatic malignancy, which usually arises in cirrhotic liver. When the typical enhancement pattern, consisting of late arterial hyperenhancement followed by washout, is present in nodules larger than 1 cm, HCC can be confidently diagnosed without the need for tissue biopsy. Nevertheless, HCC can display an atypical enhancement pattern, either as iso or hypovascular lesion, or hypervascular lesion without washout. Not only the enhancement pattern of HCC could be atypical, but also a variety of histological types of HCC, such as steatotic, scirrhous, fibrolamellar, or combined hepatocellular-cholangiocellular carcinoma could raise diagnostic dilemmas. In addition, distinct morphological types of HCC or different growth pattern can occur. Awareness of these atypical and rare HCC presentations on magnetic resonance imaging is important for accurate differentiation from other focal liver lesions and timely diagnosis, which allows optimal treatment of patients.     

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy

Transmembrane tyrosine kinase receptors represent a fundamental mechanism for transducing extracellular signals into the activation of signaling cascades responsible for intercellular communication, embryogenesis and tissue integrity. The epidermal growth factor receptor (EGFR) is a canonical member of this family, regarded for its dysregulated function in various malignancies. Here, we describe a young female born prematurely with friable and immature skin who developed chronic diarrhea, recurrent gastrointestinal and respiratory infections, as well as an ichthyotic and inflammatory papulopustular rash accompanied by alopecia. Whole-exome sequencing revealed a constitutional homozygous variant in EGFR (NM_005228.3:c1283G>A; p.[G428D]), identified as a pathogenic loss-of-function variant in three patients with EGFR deficiency. These patients succumbed to early mortality; however, the proposita’s condition has stabilized, despite only supportive interventions, with dermatological improvements and reduced frequency of infections at 8 years. This report provides a clinical phenotyping of the longest surviving individual with EGFR deficiency and substantiates our understanding of the natural history of this multisystemic dermatological disorder.