Predictors of Early Death in Patients With Wild-Type Transthyretin Cardiac Amyloidosis.

Background: For the time being, tafamidis is the only approved treatment for wild-type transthyretin cardiac amyloidosis. However, benefits on all-cause death only emerge after ≈18 months. The current available staging systems are unable to specifically discriminate patients at high risk of death within 18 months from diagnosis, and the selection of patients who are expected to benefit from tafamidis is left to the clinical judgment of treating physicians, being often based primarily (and sometimes only) on age.

Adverse Effects of Ramadan Fasting in a Girl with Salt-Losing Congenital Adrenal Hyperplasia.

Objective: Congenital adrenal hyperplasia (CAH) is the most common cause of adrenal insufficiency in pediatrics. Chronic glucocorticoid replacement is the mainstay of treatment in the classic forms of CAH, and mineralocorticoid replacement therapy is mandatory in the salt-wasting form. Fasting is a mild stressor, which can expose to dehydration, hypotension, hypoglycemia, and acute adrenal crisis in patients with adrenal insufficiency.

Renal angiomyolipomatosis and bleeding aneurysms in a tuberous sclerosis context: selective artery embolization in a girl with end-stage renal failure.

Recent developments in endovascular radiological techniques and devices have rendered embolization a major therapeutic option prior to surgery in many renal vascular or neoplastic diseases. A 19-yearold female patient, with a diagnosis of tuberous sclerosis complex (TSC) in childhood, was admitted with severe anemia. Polycystic kidney disease in end-stage renal failure appeared four years before and the patient has been undergoing peritoneal dialysis.

Allogeneic mesenchymal stromal cells: Novel therapeutic option for mutated FLNA-associated respiratory failure in the pediatric setting.

Background: Mesenchymal stromal cell (MSC)-mediated therapeutic effects have been observed in the treatment of lung diseases. For the first time, this treatment was used as rescue therapy in a pediatric patient with a life-threatening respiratory syndrome associated with the filamin A (FLNA) gene mutation.

Methods: A child with a new pathogenic variant of the FLNA gene c.

Evaluation of Allostatic Load as a Marker of Chronic Stress in Children and the Importance of Excess Weight.

Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of physiological stress that promotes a detrimental chronic low-inflammation state. In order to define a correlation between cumulative biological dysregulation and excess weight, we measured AL scores in a pediatric population.

Sclerosing angiomatoid nodular transformation presenting with abdominal hemorrhage: First report in infancy.

A limited number of sclerosing Angiomatoid Nodular Transformation (SANT) have been reported in pediatric age. We describe the first case of SANT occurring in a nine-week-old female infant that was admitted to our unit for severe abdominal distension and rectal bleeding. Enlarged spleen was detected on physical examination.

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.

Background: Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases.

Case Presentation: We report a new pathogenic FLNA gene variant (c.7391_7403del; p.

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study.

Rationale: Mesenchymal stem cells (MSC) play a crucial role in both the maintenance of pulmonary integrity and the pathogenesis of lung disease. Lung involvement has been reported in patients with the filamin A (FLNA) gene mutation. Considering FLNA's role in the intrinsic mechanical properties of MSC, we characterized MSCs isolated from FLNA-defective lung tissue, in order to define their pathogenetic role in pulmonary damage.

Management of hepatitis C positive patients undergoing active treatment for malignancies: A position paper from the Associazione Italiana di Oncologia Medica (AIOM) and the Società Italiana di Malattie Infettive e Tropicali (SIMIT).

Purpose: To develop, on behalf of Associazione Italiana di Oncologia Medica and Società Italiana di Malattie Infettive e Tropicali, evidence-based and practical recommendations for the management of cancer patients who are Hepatitis C virus (HCV)-positive and are undergoing antitumor treatment.

Methods: Recommendations were generated by panel of experts selected by the boards of the Societies Associazione Italiana di Oncologia Medica and Società Italiana di Malattie Infettive e Tropicali (4 oncologists and 6 infectious disease and hepatology specialist). The level of evidence and grade or recommendation was assessed according to the Grading of Recommendations Assessment, Development and Evaluation for practice guidelines [5]: A (high), B (moderate), and C (low), together with 2 recommendation levels: 1 (strong), and 2 (weak).

Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate of an obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected.

Spleen size evaluation in children: Time to define splenomegaly for pediatric surgeons and pediatricians.

Background: We determined the range of normal spleen dimensions evaluated by ultrasonography (US) in children according to sex and age and the relationship between splenic measurements, auxological data and body proportions, in order to define splenomegaly parameters in support of the surgical mini-invasive approaches in pediatrics.

Methods: We prospectively examined 317 caucasian children of both sexes. The patients were divided into three groups: 0-3 years; 4-10 years; 11-18 years.

Epicardial Fat Thickness in Non-Obese Neurologically Impaired Children: Association with Unfavorable Cardiometabolic Risk Profile.

Background: Cardiovascular risk is reported in disabled children and epicardial fat (EF) is considered an independent predictor of cardiovascular disease (CVD). No data on the EF thickness (EFT) evaluation in disabled children have been published.

Objective: We investigated EFT in neurologically impaired (NI) children; its relationship with their metabolic profile was also considered.

Congenital pulmonary malformations: metabolomic profile of lung phenotype in infants.

Background: The main hydrosoluble metabolites in three different human congenital pulmonary malformations are described by nuclear magnetic resonance (NMR) spectroscopy.

Methods: Bronchogenic cyst (BC), congenital lobar emphysema (CLE) and intrapulmonary sequestration (IPS), were analyzed with respect to a control sample. The extracted metabolites were submitted to high-resolution (1)H NMR-spectroscopy.

Metabolic syndrome in Turner syndrome and relation between body composition and clinical, genetic, and ultrasonographic characteristics.

Background: An increased relative risk of diabetes, ischemic heart disease, atherosclerosis, and hypertension have been reported in Turner syndrome (TS) patients. No data are currently available on the prevalence of metabolic syndrome in TS subjects. We evaluated the frequency of metabolic syndrome in obese and nonobese patients with TS.

Robotic-assisted gastroplication in a morbidly obese adolescent: early improvement in metabolic and neurohormonal parameters.

Bariatric surgery has to be considered in the management of severely obese adolescents when all conservative measures have been proven to be unresponsive. Short term metabolic and neurohormonal profile changes after robotic-assisted gastroplication are evaluated. The benefits and the usefulness of this surgical - reversal procedure in adolescent need to be defined.