Guidelines currently do not recommend the routine use of chest x-ray (CXR) in bronchiolitis. However, CXR is still performed in a high percentage of cases, mainly to diagnose or rule out pneumonia. The inappropriate use of CXR results in children exposure to ionizing radiations and increased medical costs. Lung Ultrasound (LUS) has become an emerging diagnostic tool for diagnosing pneumonia in the last decades. The purpose of this study was to assess the diagnostic accuracy and reliability of LUS for the detection of pneumonia in hospitalized children with bronchiolitis and to evaluate the agreement between LUS and CXR in diagnosing pneumonia in these patients. We enrolled children admitted to our hospital in 2016–2017 with a diagnosis of bronchiolitis and undergone CXR because of clinical suspicion of concomitant pneumonia. LUS was performed in each child by a pediatrician blinded to the patient’s clinical, laboratory and CXR findings. An exploratory analysis was done in the first 30 patients to evaluate the inter-observer agreement between a pediatrician and a radiologist who independently performed LUS. The diagnosis of pneumonia was established by an expert clinician based on the recommendations of the British Thoracic Society guidelines. Eighty seven children with bronchiolitis were investigated. A final diagnosis of concomitant pneumonia was made in 25 patients. Sensitivity and specificity of LUS for the diagnosis of pneumonia were 100% and 83.9% respectively, with an area under-the-curve of 0.92, while CXR showed a sensitivity of 96% and specificity of 87.1%. When only consolidation > 1 cm was considered consistent with pneumonia, the specificity of LUS increased to 98.4% and the sensitivity decreased to 80.0%, with an area under-the-curve of 0.89. Cohen’s kappa between pediatrician and radiologist sonologists in the first 30 patients showed an almost perfect agreement in diagnosing pneumonia by LUS (K 0.93). This study shows the good accuracy of LUS in diagnosing pneumonia in children with clinical bronchiolitis. When including only consolidation size > 1 cm, specificity of LUS was higher than CXR, avoiding the need to perform CXR in these patients. Added benefit of LUS included high inter-observer agreement. Identifier: NCT03280732 . Registered 12 September 2017 (retrospectively registered).

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype–genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental and genetic disturbances of gene expression. We describe two siblings born from consanguineous parents with a diagnosis of SIOD revealed by whole exome sequencing (WES). Results: A homozygous missense variant in the SMARCAL1 gene (c.1682G>A; p.Arg561His) was identified in both patients. Despite carrying the same variant, the two patients showed substantial renal and immunological phenotypic differences. We describe features not previously associated with SIOD—both patients had congenital anomalies of the kidneys and of the urinary tract and one of them succumbed to a classical type congenital mesoblastic nephroma. We performed an extensive characterization of the immunophenotype showing combined immunodeficiency characterized by a profound lymphopenia, lack of thymic output, defective IL-7Rα expression, and disturbed B plasma cells differentiation and immunoglobulin production in addition to an altered NK-cell phenotype and function. Conclusions: Overall, our results contribute to extending the phenotypic spectrum of features associated with SMARCAL1 mutations and to better characterizing the underlying immunologic disorder with critical implications for therapeutic and management strategies.

Background: Postmenopausal women have an increased risk of adverse cardiovascular (CV) events. Similarly, chronic kidney disease (CKD) is a well established risk factor for CV disease and mortality.Design: We evaluated the effect of renal function on the risk of death and CV events in 1500 southern Italian postmenopausal women.Methods and results: Renal function was estimated (e) by glomerular filtration rate (e-GFR) by Modification of Diet in Renal Disease equation. We classified postmenopausal women in two groups of e-GFR (ml/min per 1.73 m²): ≥ 60 (group 1) and less than 60 (group 2). The primary endpoint was major adverse CV events (MACE). The secondary endpoints were total events (MACE + death from any cause), coronary events, and stroke. During the follow-up (mean = 72.6 months), there were 200 new CV morbid events. The rate of MACE (per 100 patient-years) was 1.88 and 2.98 in the two groups of e-GFR ( P < 0.0001). On univariate analysis, the incident risk of CV events was inversely related with the e-GFR values; similarly, in multiple Cox regression model, only the e-GFR maintained an independent association with MACE and secondary end-points.Conclusion: For the first time, we demonstrated that the reduction of e-GFR was associated with the increased risk of death and CV events, independently of traditional CV risk factors, menopause duration, and presence of metabolic syndrome.

Methicillin-resistant Staphylococcus aureus (MRSA) is an established nosocomial pathogen with frequent multidrug resistance. The immaturity of the immune system along with intravascular lines and empirical antibiotic treatments place hospitalized preterm infants at major risk of MRSA infection. We report a case of MRSA mandibular osteomyelitis complicating a persistent S. aureus bacteremia in a 23-week preterm infant. From the first weeks of life, the infant showed recurrent C-reactive protein (CRP) elevation, associated with S. aureus bacteremia. Antibiotic courses, including vancomycin and linezolid, were performed with transitory normalization of blood parameters. On day 74, the infant suddenly deteriorated and showed a significant increase of both CRP and procalcitonin. Empiric vancomycin and piperacillin-tazobactam treatment was started; nevertheless, she developed a progressive hard swelling of neck and mandible. Radiological evaluation revealed a mandibular osteomyelitis complicated by an abscess, whose culture grew MRSA. Vancomycin was thus changed to teicoplanin and complete clinical and radiological healing was gradually achieved. In the presence of major risk factors, persistent bacteremia and nonspecific symptoms, a localized focus of infection should be suspected. Microbiological diagnosis should always be attempted and antibiotic treatment should be guided by both susceptibility results and clinical response.

Background: The thymus gland is a lymphoid organ normally located in the anterior mediastinum. Location abnormalities of the thymus, such as ectopic thymus or the superior herniation of a mediastinal thymus, could be responsible for the occurrence of cervical masses in pediatric patients, raising concerns among clinicians. The knowledge of these conditions is essential for a thorough differential diagnosis and for preventing unnecessary invasive procedures. Methods: Descriptive retrospective series of three patients with a cervical mass, that was later diagnosed as ectopic thymic tissue. Results: The thymus has a unique and distinctive ultrasound appearance that is the keystone to detecting thymic parenchyma in locations other than anterior mediastinum. In selected patients, an accurate ultrasound could be conclusive for the diagnosis, with no need for further and potentially risky procedures. Conclusions: This case series supports the use of ultrasound in both diagnosis and follow-up of thymus location abnormalities, advocating a minimal invasive and conservative approach.