Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The most common signs of rickets are swelling of the wrists, knees or ankles, bowing of the legs (knock-knees, outward bowing, or both) and inability to walk.

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.

Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an increased risk for cerebrovascular disease and insulin resistance. Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII.

Pediatric immune thrombocytopenia: a focus on eltrombopag as second-line therapy.

Background: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder. In both children and adults, the primary goal of any therapeutic approach consists of cessation of bleeding and its prevention. Several options are currently available for first-line therapy in Europe, including corticosteroids and intravenous immunoglobulin (IVIg) infusion, which has a similar efficacy and safety profile in both the pediatric and adult populations.

Cardiovascular prevention in women: an update by the Italian Society of Cardiology working group on 'Prevention, hypertension and peripheral disease'.

The recent pandemic has substantially changed the approach to the prevention of cardiovascular diseases in women. Women have been significantly impacted by the changes that occurred during the pandemic and the quarantine adopted to prevent the spread of the disease. Changes involved prevention both through the reduction of visits and preventive screening and through social and economic changes.

Restructuring surgical training after COVID-19 pandemic: A nationwide survey on the Italian scenario on behalf of the Italian polyspecialistic young surgeons society (SPIGC).

Introduction: The COVID-19 pandemic has led to the disruption of surgical training. Lack of communication, guidelines for managing clinical activity as well as concerns for safety in the workplace appeared to be relevant issues. This study aims to investigate how surgical training has been reorganized in Italy, almost 2 years after the outbreak of COVID-19 pandemic.

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome.

Purpose: Girls affected with Turner syndrome (TS) present with low bone mineral density (BMD) and osteopenia/osteoporosis. Thus, they have an increased risk to develop fractures compared to normal population. The aim of this study was to deepen the pathophysiology of skeletal fragility in TS subjects by evaluating the serum levels of Dickkopf-1 (DKK-1) and sclerostin, main regulators of bone mass, as well as the percentage of circulating osteoblast precursors (OCPs).

Vascular and Myocardial Function in Young People with Type 1 Diabetes Mellitus: Insulin Pump Therapy Versus Multiple Daily Injections Insulin Regimen.

Introduction: Multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII) are two modalities of treating type 1 diabetes mellitus (T1DM). The benefits of CSII on long-term metabolic control and outcomes compared to those of MDI are still debated. We investigated both vascular function and myocardial performance in T1DM adolescents on MDI or CSII treatment.

Continuous flow left ventricular assist devices do not worsen endothelial function in subjects with chronic heart failure: a pilot study.

Aims: To evaluate endothelial function in subjects with left ventricular assist devices (LVADs), comparing them with subjects with chronic heart failure with reduced ejection fraction on the list for heart transplant (HT) and with HT patients with a normal systolic cardiac function to identify any differences.

Methods: We enrolled 28 subjects with LVAD, 55 subjects with HT, and 42 subjects with heart failure on the transplant list. The subjects underwent a general physical examination, assessment of laboratory blood parameters, and assessment of endothelial function through flow-mediated dilation (FMD) of brachial artery.

Mechanisms of altered bone remodeling in children with type 1 diabetes.

Bone loss associated with type 1 diabetes mellitus (T1DM) begins at the onset of the disease, already in childhood, determining a lower bone mass peak and hence a greater risk of osteoporosis and fractures later in life. The mechanisms underlying diabetic bone fragility are not yet completely understood. Hyperglycemia and insulin deficiency can affect the bone cells functions, as well as the bone marrow fat, thus impairing the bone strength, geometry, and microarchitecture.

Is routine splenic flexure mobilization always necessary in laparotomic or laparoscopic anterior rectal resection? A systematic review and comprehensive meta-analysis.

Splenic flexure mobilization (SFM) is one of the most difficult steps in laparoscopic colorectal surgery and its role is harshly debated. Some surgeons considered it routinely necessary to obtain a safe anastomosis and to respect oncologic criteria; for others SFM is frequently unnecessary, not ensuring the aspects mentioned above and increasing the risk of morbidity (splenic, bowel and vessels injury, lengthened procedure). We performed a systematic review and a comprehensive meta-analysis, without any language restriction, about the peri-operative and post-operative outcomes (anastomotic leakage, intra-operative complication, conversion rate, operative time, post-operative bleeding, intra-abdominal collection, prolonged ileus, wound infection, anastomotic stricture, overall complications, hospital stay, re-operation, post-operative mortality, R0 margin resection, local recurrence) in patients undergoing elective anterior rectal resection (ARR) with or without SFM, both in laparotomic (LT) and laparoscopic (LS) approach.

Late-onset and long-lasting autoimmune neutropenia: an analysis from the Italian Neutropenia Registry.

Primary autoimmune neutropenia (pAN) is typified by onset in early infancy and a mild/moderate phenotype that resolves within 3 years of diagnosis. In contrast, secondary AN is classically an adult disease associated with malignancy, autoimmunity, immunodeficiency, viral infection, or drugs. This study describes a cohort of 79 children from the Italian Registry who, although resembling pAN, did not fully match the criteria for pAN because neutropenia either appeared after age 5 years (LO-Np) or lasted longer than 3 years (LL-Np).

Robotic or three-dimensional (3D) laparoscopy for right colectomy with complete mesocolic excision (CME) and intracorporeal anastomosis? A propensity score-matching study comparison.

Background: We describe our preliminary experience in complete mesocolic excision (CME) with central vascular ligation (CVL) and intracorporeal anastomosis for right colon cancer, comparing the robotic and the three-dimensional (3D) laparoscopic approach.

Methods: We performed a retrospective observational clinical cohort study on patients who underwent radical curative surgical resection of right colon cancer with CME from January 2014 to June 2019. Propensity scores were calculated by bivariate logistic regression, including the following variables: age, BMI, and size of tumor.

Development of a Rapid Mass Spectrometric Determination of AMP and Cyclic AMP for PDE3 Activity Study: Application and Computational Analysis for Evaluating the Effect of a Novel 2-oxo-1,2-dihydropyridine-3-carbonitrile Derivative as PDE-3 Inhibitor.

A simple, quick, easy and cheap tandem mass spectrometry (MS/MS) method for the determination of adenosine monophosphate (AMP) and cyclic adenosine monophosphate (cAMP) has been newly developed. This novel MS/MS method was applied for the evaluation of the inhibitory effect of a novel 2-oxo-1,2-dihydropyridine-3-carbonitrile derivative, also named DF492, on PDE3 enzyme activity in comparison to its parent drug milrinone. Molecule DF492, with an IC of 409.

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.

Background: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is a rare autosomal recessive 46,XY disorder of sex development (DSD). It is due to pathogenetic variants in the HSD17B3 gene. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Δ4-androstenedione (Δ4-A) to testosterone (T) in the fetal testis.

Vascular, cardiac and renal target organ damage associated to arterial hypertension: which noninvasive tools for detection?

Arterial hypertension is a systemic condition characterized by elevated blood pressure in the vascular system. Despite the great effort of scientific community to sensitize population to the problem, enforcing the preventive and treatment measures, this condition continues to be responsible for a large portion of global mortality, as it represents one of the major modifiable risk factors of cardiovascular disease. The significant and substantial clinical implications of high blood pressure on cardiovascular morbidity and mortality are explained by the effect of hypertension on specific organs, particularly sensitive to the effects of changes in blood pressure, resulting cardiac remodeling, cerebrovascular disease, renal failure, atherosclerotic vascular disease, and retinopathy, hence the term "target organ damage".

Ductal size indexed to weight and body surface area correlates with morbidities in preterm infants ≤32 weeks.

Objectives: To assess ductal size correlated to spontaneous closure, pharmacological or surgical treatment; to index ductal diameter to body weight and body surface area; to evaluate the morbidities.

Study Design: Retrospective study on preterms ≤32 weeks, birth weight ≤1500 g, extremely low birth weight (ELBW) and very low birth weight (VLBW). Inclusion criteria: patent ductus arteriosus (PDA) with a diameter ≥1 millimeter (mm) at 72 h from birth; need for ibuprofen treatment on the basis of a hemodynamically significant ductus arteriosus (HsPDA).

Cardiovascular prevention in women: a narrative review from the Italian Society of Cardiology working groups on 'Cardiovascular Prevention, Hypertension and peripheral circulation' and on 'Women Disease'.

: Cardiovascular disease (CVD) is the leading cause of mortality and morbidity in women.Some authors highlighted that the female risk profile consists of traditional and emerging risk factors. Despite the lower prevalence of type 2 diabetes, years of life lost owing to the disease for women are substantially higher compared with men.

Uric acid: from a biological advantage to a potential danger. A focus on cardiovascular effects.

Non-communicable diseases represent nowadays the most common cause of death worldwide, having largely overcome infectious diseases. Among them, cardiovascular diseases constitute the majority. Given these premise, great efforts have been made by scientific societies to emphasize the fundamental role of cardiovascular prevention and risk factors control.

Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.

Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4-5 years of age; it is due to auto-antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induced, or congenital neutropenia, according to the Italian guidelines the patients will be defined as affected by "idiopathic neutropenia" (IN). We describe the characteristics of 85 IN patients enrolled in the Italian neutropenia registry: they were compared with 336 children affected by AIN.

An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.

Background: Bone remodeling is a lifelong process due to the balanced activity of osteoclasts (OCs), the bone-reabsorbing cells, and osteoblasts (OBs), and the bone-forming cells. This equilibrium is regulated by numerous cytokines, but it has been largely demonstrated that the RANK/RANKL/osteoprotegerin and Wnt/β-catenin pathways play a key role in the control of osteoclastogenesis and osteoblastogenesis, respectively. The pro-osteoblastogenic activity of the Wnt/β-catenin can be inhibited by sclerostin and Dickkopf-1 (DKK-1).

Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review.

The aim of this report was to illustrate a case of parathyroid carcinoma (PC) in a patient with multiple endocrine neoplasia type 1 (MEN1) along with a comprehensive literature review. A 61-year-old man presented with 9-cm PC causing primary hyperparathyroidism (PHPT). His pre-operative corrected calcium and intact PTH serum levels were 2.

Survey of biochemical and oxidative profile in donkey foals suckled with one natural and one semi-artificial technique.

Dairy donkey milking procedures require separating foals from their dams for a few hours a day. Artificial suckling in this species is a good technique for improving milk production and foal welfare. The aim of the work is to compare the effect of two different diets on donkey foals when separated from jennies for milking procedures with and without a milk replacer.

Survey on basal blood plasma catecholamine concentrations in Martina Franca donkey (Equus asinus).

Background: Catecholamines are among the most frequently investigated parameters for studying sympathoadrenal activity in response to stress conditions.

Objectives: To evaluate basal plasma concentrations of catecholamines (adrenaline, noradrenaline and dopamine) in healthy donkeys.

Study Design: Cross-sectional study.