Depression and Anxiety in Pediatric Patients with Beckwith-Wiedemann Syndrome: A Pilot Study.

The study's aim was to determine the prevalence of depression and anxiety in children with Beckwith-Wiedemann syndrome (BWS) and their effects on social relationships and family acceptance. The Pediatric Symptom Checklist-35 items (PSC-35), Screen for Child Anxiety Related Emotional Disorders (SCARED), and the Vineland Adaptive Behavior Scale Second Edition (VABS-II) were administered to the children. The parental Acceptance Rejection/Control Questionnaire (PARQ/Control) and Zarit Burden Inventory (ZBI) were administered to parents. In total, 6 patients and 10 parents were included. Patients showed a significant presence of internalizing behavior in PSC-35 (mean, 7.66 ± 3.67), anxiety symptoms (SCARED: mean, 46.33 ± 17.50) and socialization difficulties (mean, 90.83 ± 10.09). Parents reported a perceived good acceptance (mean, 56.33 ± 1.03) and a moderate control (mean, 24.17 ± 1.83), but the burden level was ranked moderate to severe (mean, 59.33 ± 16.78). It was found that the severity of the burden level reported by parents was related to internalizing behavior (OR = 2.000; 95% CI = 0.479-3.521; p = 0.022) and anxiety symptoms (SCARED total score: OR = 3.000; 95% CI = 1.479-4.521; p = 0.005) of children. During psychological counseling in the context of BWS treatment, it is important to identify specific resources that can support patients and families in dealing with stress and identify any critical areas that could hinder the adaptation process.

COVID-19 pathogenesis.

The pathogenesis of COVID-19 involves a complex interplay between host factors and the SARS-CoV-2 virus, leading to a multitude of clinical manifestations beyond the respiratory system. This chapter provides an overview of the risk factors, genetic predisposition, and multisystem manifestations of COVID-19, shedding light on the underlying mechanisms that contribute to extrapulmonary manifestations. The chapter discusses the direct invasion of SARS-CoV-2 into various organs as well as the indirect mechanisms such as dysregulation of the renin-angiotensin-aldosterone system (RAAS), immune response dysfunctions within the innate and adaptive immune systems, endothelial damage, and immunothrombosis. Furthermore, the multisystem manifestations of COVID-19 across different organ systems, including the cardiovascular, renal, gastrointestinal, hepatobiliary, nervous, endocrine and metabolic, ophthalmic, ear-nose-throat, reproductive, hematopoietic, and immune systems are discussed in detail. Each system exhibits unique manifestations that contribute to the complexity of the disease.

Breast metastasis in a young pregnant woman affected by metastatic melanoma.

Metastasis to the breast from extramammary tumors are rare, and the most common cancer that metastasizes to this site is malignant melanoma (MM). Unfortunately, metastases from malignant melanoma reveal a widespread of the disease and a high likeliness of poor diagnosis. In this study, a case of left breast metastasis of MM in a young pregnant woman, with a fast progression of the mammary and systemic course of pathology and unfortunately poor prognosis is presented. Despite the role of pregnancy in MM has yet to be unraveled, our study encourages the theory that immunosuppression and hormonal changes due to pregnancy may aggravate melanoma prognosis.

Giant epiphrenic diverticulum: an unusual case from diagnosis to treatment.

Esophageal diverticulum is a rare disease caused by impairment of esophageal motility. The incidence is not known, due to lack of symptoms in many cases. Surgical treatment is reserved to symptomatic patients. In this case report, we describe a rare case of epiphrenic esophageal diverticulum. A 61-year-old male with silent medical history, suffering severe chest pain had a CT scan showing a large esophageal diverticulum. The patient was referred to our hospital, IRCCS "Casa Sollievo della Sofferenza", to complete pre-operative assessment with a CT scan and a Barium swallowing radiography, giving morphodimensional details of the diverticulum. Based on these findings, the surgeons have chosen the appropriate operative strategy. The surgeons adopted a laparoscopic access, completed with robotic-assisted laparotomy due to the morphology of the diverticulum. Radiological evaluation is crucial in the diagnosis and in the treatment planning of symptomatic patients.

A Peculiar Case of Pneumonia due to Mycoplasma pneumoniae in a Child with Cystic Fibrosis and Sensibilization to Aspergillus fumigatus.

Aspergillus fumigatus plays a major role in pulmonary exacerbations in patients with cystic fibrosis. The most common A. fumigatus diseases are those based on immune-mediated response to A. fumigatus antigens; including allergic bronchopulmonary aspergillosis (ABPA). In this condition; the presence of A. fumigatus in the lower respiratory tract triggers an IgE-mediated hypersensitivity response that causes airway inflammation; bronchospasms; and bronchiectasis. This case report describes a ten-year-old male patient suffering from cystic fibrosis (CF) in whom the diagnosis of ABPA occurred in association with pneumonia due to Mycoplasma pneumoniae more than two weeks after hospitalization. This case is a good example of how difficult the identification of ABPA in CF patients can be and highlights that ABPA can occur in association with co-infections due to other pathogens. In order to avoid the risk of a late ABPA diagnosis, it is imperative that the diagnostic criteria guidelines are reviewed and standardized.

Antimicrobial Treatment of Staphylococcus aureus in Patients With Cystic Fibrosis.

Staphylococcus aureus is a ubiquitous human commensal pathogen. It is commonly isolated in cystic fibrosis (CF) patients and is considered one of the main causes of the recurrent acute pulmonary infections and progressive decline in lung function that characterize this inherited life-threatening multisystem disorder. However, the true role of S. aureus in CF patients is not completely understood. The main aim of this narrative review is to discuss the present knowledge of the role of S. aureus in CF patients. Literature review showed that despite the fact that the availability and use of drugs effective against S. aureus have coincided with a significant improvement in the prognosis of lung disease in CF patients, clearly evidencing the importance of S. aureus therapy, how to use old and new drugs to obtain the maximal effectiveness has not been precisely defined. The most important problem remains that the high frequency with which S. aureus is carried in healthy subjects prevents the differentiation of simple colonization from infection. Moreover, although experts recommend antibiotic administration in CF patients with symptoms and in those with persistent detection of S. aureus, the best antibiotic approach has not been defined. All these problems are complicated by the evidence that the most effective antibiotic against methicillin-resistant S. aureus (MRSA) cannot be used in patients with CF with the same schedules used in patients without CF. Further studies are needed to solve these problems and to assure CF patients the highest level of care.

Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries.

In vitro Antimicrobial Activity of Ampicillin-Ceftriaxone and Ampicillin-Ertapenem Combinations Against Clinical Isolates of Enterococcus faecalis with High Levels of Aminoglycoside Resistance.

This paper reports on the in vitro antimicrobial activity of ampicillin-ceftriaxone and ampicillin-ertapenem combinations against five strains of E. faecalis with high-level aminoglycoside resistance recovered from blood of septicemic patients. Double disk diffusion test and time killing curves were used. A bacteriostatic synergistic effect between ampicillin and ceftriaxone was detected using the disk diffusion assay for three of the five enterococcal strains studied. With the same three isolates enhanced bactericidal activity was also observed using time killing experiments. Overall, for these three strains, after 24 hr of contact, a decrease >/= 2 log(10) from the initial bacterial inoculum was registered with most ampicillin-ceftriaxone combinations, reaching with some of them a colony reduction >/= 3 log(10). This bactericidal interaction was negatively influenced increasing the bacterial inoculum. In all five isolates neither a bacteriostatic nor a bactericidal cooperation was observed for ampicillin combined with 2 mg/l of ertapenem.This investigation broadened the evidence of antimicrobial synergism in vitro between ampicillin and ceftriaxone in selected strains of Enterococcus faecalis with high-level aminoglycoside resistance.

Three-class-resistant human immunodeficiency virus type 1 variant in a drug-naive heterosexual couple.

Combination antiretroviral treatment was initiated in a heterosexual couple newly diagnosed with human immunodeficiency virus type 1 infection. Multiple genotypic drug resistance testing following early rebound of viral load revealed that the same three-class-resistant human immunodeficiency virus type 1 strain had been present in both patients since before initiation of treatment.