Randomized double-blind placebo-controlled trial on levothyroxine and liothyronine combination therapy in totally thyroidectomized subjects: the LEVOLIO study.

Objective: Despite having normal thyroid-stimulating hormone levels, many hypothyroid patients are dissatisfied with the treatment. The primary aim of this study was to evaluate the effect of twice-daily, combination therapy with levothyroxine (LT4) and liothyronine (LT3), at doses adapted according to TSH-level, on peripheral tissues as reflected by sex hormone binding globulin (SHBG) levels in totally thyroidectomized patients. Changes in other tissue markers and quality of life considering DIO2-rs225014 and MCT10-rs17606253 genetic variants were also assessed.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-seven patients (eight males; mean age: 16.

Presepsin as a diagnostic marker of sepsis in children and adolescents: a short critical update.

Background And Aim: Sepsis is a potentially fatal condition which strikes 1.2 million children worldwide per year. New biomarkers have been proposed in the assessment of the risk of sepsis progression and in the identification of patients with the worst outcome.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 () gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-facio-cutaneous syndromes.

Changes in quality of life after thyroidectomy in subjects with thyroid cancer in relation to the dose of levothyroxine.

Purpose: Previous studies demonstrated decreased quality of life (QoL) in differentiated thyroid cancer (DTC) survivors and suggested QoL variability related to time from thyroidectomy and levothyroxine dosage. The aims of this study were to evaluate QoL in thyroidectomized subjects in different levothyroxine states and to evaluate the association between TSH and thyroid hormones and QoL.

Methods: Prospective 5-year study enrolling 208 patients thyroidectomized for DTC, studied in one to four times according to levothyroxine dosage: withdrawal (WITHD), complete (C-SUPP) and mild TSH-suppression (M-SUPP), replacement (REPL).

Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study.

Spinal muscular atrophy (SMA) is a genetically inherited recessive neuromuscular disease that causes muscular atrophy and weakness. Onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) is a targeted therapy approved to treat patients with SMA in >40 countries worldwide. This study describes the clinical efficacy and tolerability of gene replacement therapy with onasemnogene abeparvovec over a 3-month period in 9 SMA type 1 patients aged 1.

Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet.

Functional gastrointestinal disorders (FGIDs) are very common and life-impacting in children and young adults, covering 50% of pediatric gastroenterologist consultations. As it is known, FGIDs may be due to alterations in the gut-brain axis, dysbiosis and dysregulation of intestinal barrier, causing leaky gut. This may enhance increased antigen and bacterial passage through a damaged mucosa, worsening the impact of different medical conditions such as FGIDs.

Establishing a missing person DNA Biobank as a form of human rights protection.

Nowadays, organ transplantation is considered an established medical practice that, every year, improves the quality of life of thousands of patients. However, the increasing demands for kidney transplantation are in contrast with the global lack of organs. The imbalance between supply and demand for organs has created the basis for a highly profitable black market, placing illicit organ trafficking in the broader context of human trafficking.

Esophageal impedance baseline in infants with bronchopulmonary dysplasia: A pilot study.

Background: Bronchopulmonary dysplasia (BPD) may induce gastroesophageal reflux (GER). Esophageal impedance baseline values (BI) reflect mucosal inflammation. Our aim was to evaluate BI levels in preterm infants with BPD compared with those without BPD and to identify BI predictors.

Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.

With the recent advances in next-generation sequencing (NGS), mitochondrial whole-genome sequencing has begun to be applied to the field of the forensic biology as an alternative to the traditional Sanger-type sequencing (STS). However, experimental workflows, commercial solutions, and output data analysis must be strictly validated before being implemented into the forensic laboratory. In this study, we performed an internal validation for an NGS-based typing of the entire mitochondrial genome using the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific) on the Ion S5 sequencer (Thermo Fisher Scientific).

Effect of Lactobacillus reuteri LRE02-Lactobacillus rhamnosus LR04 combination and gastrointestinal functional disorders in an Emergency Department pediatric population.

Objective: Probiotics are living microorganisms that, when administered per os in adequate amounts, may confer a health benefit on the host by the regularization of an unbalanced gastroenteric microbiota. The objective of this study was to evaluate treatment effectiveness, safety, and palatability of a probiotic's combination (Lactobacillus reuteri LRE02-DSM 23878 and Lactobacillus rhamnosus LR04-DSM 16605) in a pediatric Emergency Department setting with functional gastrointestinal disorders.

Patients And Methods: Three groups were enrolled: children with functional abdominal pain; children with gastroenteritis; children with gas colic.

Real-life use of BRAF-V600E mutation analysis in thyroid nodule fine needle aspiration: consequences on clinical decision-making.

Purpose: This study aimed to evaluate the real-life use of BRAF-V600E mutation analysis in washout liquid from thyroid nodule fine needle aspiration (FNA), and the consequences of genetic result on clinical decision-making.

Methods: We retrospectively considered subjects tested for BRAF-V600E among those attending the Endocrinology Unit of Modena for FNA between 2014 and 2018. Washing fluid was collected together with cytological sample and stored at -20 °C.

Hypokalemia in Patients with COVID-19.

Background: Patients with COVID-19 experience multiple clinical conditions that may cause electrolyte imbalances. Hypokalemia is a concerning electrolyte disorder closely associated with severe complications. This study aimed to estimate prevalence, risk factors and outcome of hypokalemia in a cohort of patients with confirmed COVID-19.

Cognitions Associated With Hypoglycemia Awareness Status and Severe Hypoglycemia Experience in Adults With Type 1 Diabetes.

Objective: Impaired awareness of hypoglycemia (IAH) and recurrent severe hypoglycemia (RSH) remain problematic for people with type 1 diabetes (T1D), despite major therapeutic advances. We explored beliefs around hypo- and hyperglycemia in adults with T1D with, and without, IAH and RSH.

Research Design And Methods: A cross-sectional U.

Physicochemical characteristics and high sensory acceptability in cappuccinos made with jackfruit seeds replacing cocoa powder.

Jackfruit seeds are an under-utilized waste product in many tropical countries. In this work, we demonstrate the potential of roasted jackfruit seeds to substitute for cocoa powder in cappuccino formulations. Two different flours were produced from a hard variety jackfruit by drying or fermenting the seeds prior to roasting.

Medico-Legal Aspects of Pulmonary Thromboembolism.

Pulmonary ThromboEmolism (PTE) is an important disease for legal medicine. Because of their sudden lethal onset, generally medicolegal autopsies show few clinical information when PTE is the cause of death. During medicolegal autopsies, the autopsy operator must answer to important questions.

Pineapple by-product and canola oil as partial fat replacers in low-fat beef burger: Effects on oxidative stability, cholesterol content and fatty acid profile.

The effect of freeze-dried pineapple by-product and canola oil as fat replacers on the oxidative stability, cholesterol content and fatty acid profile of low-fat beef burgers was evaluated. Five treatments were performed: conventional (CN, 20% fat) and four low-fat formulations (10% fat): control (CT), pineapple by-product (PA), canola oil (CO), and pineapple by-product and canola oil (PC). Low-fat cooked burgers showed a mean cholesterol content reduction of 9.

Effects of pineapple byproduct and canola oil as fat replacers on physicochemical and sensory qualities of low-fat beef burger.

Pineapple byproduct and canola oil were evaluated as fat replacers on physicochemical and sensory characteristics of low-fat burgers. Five treatments were performed: conventional (CN, 20% fat) and four low-fat formulations (10% fat): control (CT), pineapple byproduct (PA), canola oil (CO), pineapple byproduct and canola oil (PC). Higher water and fat retention and lower cooking loss and diameter reduction were found in burgers with byproduct addition.

Giant Diaphragmatic Lipoma: Two Autopsy Case Reports and Review of the Literature.

Lipomas are common benign tumors most frequently found within the subcutaneous areas of the body. Deep-seated lipomas are rare and tend to be larger than cutaneous ones. Lipomas are rarely seen in the thoracic cavity, and they are usually located in the mediastinum, bronchiole, and lungs.

Forensic botany as a useful tool in the crime scene: Report of a case.

The ubiquitous presence of plant species makes forensic botany useful for many criminal cases. Particularly, bryophytes are useful for forensic investigations because many of them are clonal and largely distributed. Bryophyte shoots can easily become attached to shoes and clothes and it is possible to be found on footwear, providing links between crime scene and individuals.

[Malignant fibrous histiocytoma of the penis].

According to the most recent World Health Organization (WHO) guidelines a diagnosis of malignant fibrous histiocytoma (MFH) should be made only for lesions composed of tumor cells without evidence of a specific line of differentiation. This is therefore a diagnosis by exclusion which is why the name of undifferentiated high-grade pleomorphic sarcoma (UPS) should be preferred. Soft tissue sarcomas currently have an incidence in all body regions of approximately 20 cases per 1 million inhabitants per year.