Perceptions and Expectations of Youth Regarding the Respect for Their Rights in the Hospital.

Information obtained from children themselves regarding the characteristics of the ideal hospital that ensure well-being during a hospital stay is scarce. Here, we report the opinions, perceptions, and expectations of 700 children and adolescents about their experiences, assessed through a mixed-method research approach with age-appropriate questionnaires, three open-ended questions, and an analysis of optional pictorial and textual narratives. Most children indicated that, while they acknowledged the expertise of hospital staff, they also noted several shortcomings, e.

Consumptive Hypothyroidism due to Hepatic Hemangiomas: A Case Series and Review of the Literature.

Unlabelled: Consumptive hypothyroidism (CH) is a rare and potentially overlooked complication of hepatic hemangiomas (HH) overexpressing the enzyme deiodinase, which converts thyroxine (T4) to reverse triiodothyronine (rT3).

Materials And Methods: Here, we report a case series of 3 patients and a systematic review of the literature.

Results: Hypothyroidism (mean serum TSH 52.

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed.

RASopathies and hemostatic abnormalities: key role of platelet dysfunction.

Background: Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of bleeding disorders in patients with RASopathies and evaluate any significant association with laboratory findings.

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Neurofibromatosis 1 (NF1) is a disorder characterized by variable expressivity caused by loss-of-function variants in NF1, encoding neurofibromin, a protein negatively controlling RAS signaling. We evaluated whether concurrent variation in proteins functionally linked to neurofibromin contribute to the variable expressivity of NF1. Parallel sequencing of a RASopathy gene panel in 138 individuals with molecularly confirmed clinical diagnosis of NF1 identified missense variants in PTPN11, encoding SHP2, a positive regulator of RAS signaling, in four subjects from three unrelated families.

Atypically Protracted Course of Liver Involvement in Kawasaki Disease. Case Report and Literature Review.

Hypertransaminasemia in patients with Kawasaki disease (KD) is reported to be transient. Here, we describe a child with an atypically protracted course of liver tests abnormalities and review the inherent literature. The patient was hospitalized at age 7-months for isolated hypertransaminasemia detected during a classical KD diagnosed 3 months before, and persistent since then.

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones.

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Diagnosis of pediatric steatohepatitis is a challenging issue due to a vast number of established and novel causes. Here, we report a child with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) presenting with an underrated muscle weakness, exercise intolerance and an atypically severe steatotic liver involvement. A systematic literature review of liver involvement in MADD was performed as well.

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Background: ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non-syndromic, neonatal-onset intrahepatic chronic cholestasis possibly associated to cilia dysfunction. Herein, we report a new case with further studies of whole exome sequencing (WES) and immunofluorescence in primary cilia of her cultured fibroblasts which confirm the observation.

Results: A now 5-year-old girl born to clinically healthy consanguineous Moroccan parents was assessed at 59 days of life due to severe cholestatic jaundice with increased serum bile acids and GGT, and preserved hepatocellular synthetic function.

Oxidative Stress in Non-alcoholic Fatty Liver Disease. An Updated Mini Review.

Non-alcoholic fatty liver disease (NAFLD) is a challenging disease caused by multiple factors, which may partly explain why it remains still orphan of an adequate therapeutic strategy. Herein we focus on the interplay between oxidative stress (OS) and the other causal pathogenetic factors. Different reactive oxygen species (ROS) generators contribute to NAFLD inflammatory and fibrotic progression, which is quite strictly linked to the lipotoxic liver injury from fatty acids and/or a wide variety of their biologically active metabolites in the context of either a two-hit or a (more recent) multiple parallel hits theory.

Analgesic effects of breast- and formula feeding during routine childhood immunizations up to 1 year of age.

Background: Data on analgesic effects of breast/formula milk sucking while receiving routine childhood immunizations are available only in early infancy, have rarely been compared in the same study, and are not accompanied by information on mothers' satisfaction/acceptance. Here we aimed to compare the analgesic effect of both methods vs. held-only controls up to 1 year of age, and verify mothers' satisfaction.

Humanization interventions in general pediatric wards: a systematic review.

Humanization of care (HOC) interventions have rarely been evaluated and compared. We systematically reviewed the outcomes of published interventions aimed to improve the HOC for hospitalized children. PubMed and Scopus were used as data sources.

Humanization of pediatric care in the world: focus and review of existing models and measurement tools.

Background: The term "humanization" indicates the process by which people try to make something more human and civilized, more in line with what is believed to be the human nature. The humanization of care is an important and not yet a well-defined issue which includes a wide range of aspects related to the approach to the patient and care modalities. In pediatrics, the humanization concept is even vaguer due to the dual involvement of both the child and his/her family and by the existence of multiple proposed models.

Fine-needle cytology in the follow-up of breast carcinoma.

The postoperative follow-up strategies for breast carcinoma (BC) utilize different procedures; the aim of this study was to investigate the role of fine-needle cytology (FNC) in the follow-up of BC patients. Two hundred sixty-six FNC samples from 190 BC patients have been reviewed. The target anatomical sites were 190 breast including 155 ipsilateral and 145 contralateral breast lesions and 76 extra-mammary nodules.

Nucleotide Excision Repair and head and neck cancers.

Genome integrity maintenance is crucial for cell survival and for counteracting cancer onset and progression. Mammary cells invest great amount of energy in DNA repair, in order to avoid errors accumulation in DNA sequence. Nucleotide Excision Repair (NER) removes a broad spectrum of DNA damages, mainly bulky DNA lesions.

Histochemistry and Immunohistochemistry Evaluation of the Abrikossoff's Tumour of the Tongue: a Case Report.

Abrikossoff's tumour is a rare benign soft tissue neoplasm that can occur in any part of the body, including the orofacial region. The tumour is usually benign, but there are reports of cases in which the tumour shows a locally aggressive behaviour, malignancy, and distant metastases. The aetiology is unknown, since several studies have shown that different cells are involved.

Radiation dermatitis, burns, and recall phenomena: Meaningful instances of immunocompromised district.

Ionizing and ultraviolet radiations, as well as burns, can selectively damage and immunologically mark the cutaneous area they act on through direct and indirect mechanisms. After the causal event has disappeared, the affected skin district may appear clinically normal, but its immune behavior is often compromised forever. In fact, irradiated or burned skin areas undergo a destabilization of the immune control, which can lead to either a reduction of immunity (as suggested by the facilitated local occurrence of tumors and infections) or an excess of it (as suggested by the possible local onset of disorders with exaggerated immune response).

Glottic-Subglottic adenoid cystic carcinoma. A case report and review of the literature.

Background: Malignant tumours of minor salivary glands are uncommon, representing only 2-4% of all head and neck cancers. In the larynx, minor salivary gland tumours rarely occur and constitute less than 1% of laryngeal neoplasm. Most of the minor salivary gland tumours arise in the subglottis; however, they can also occur in the supraglottis, in the false vocal cords, aryepiglottic folds and caudal portion of the epiglottis.

Surgical resection of carotid body paragangliomas: 10 years of experience.

Background: Carotid body tumors (CBTs) are relatively rare neoplasms, and even if they are considered predominantly benign, there is an indication for early surgical removal. The objective of this study was to conduct a review of the surgical management of CBTs.

Methods: A retrospective study identified 34 cases (12 men and 19 women) of tumors in patients who had undergone surgical resection of pathologically confirmed CBTs over a period of 10 years from 2001 to 2011 in 2 academic departments of general surgery in Italy.

Critical role of CCDC6 in the neoplastic growth of testicular germ cell tumors.

Background: DNA damage response has been clearly described as an anti-cancer barrier in early human tumorigenesis. Moreover, interestingly, testicular germ cell tumors (TGCTs) have been reported to lack the DNA Damage Response (DDR) pathway activation. CCDC6 is a pro-apoptotic phosphoprotein substrate of the kinase ataxia telangectasia mutated (ATM) able to sustain DNA damage checkpoint in response to genotoxic stress and is commonly rearranged in malignancies upon fusion with different partners.

Synergy between enzastaurin doxorubicin in inducing melanoma apoptosis.

Melanoma is resistant to most standard chemotherapeutics. We analysed the combined effect of doxorubicin and enzastaurin on cell death of four melanoma cell lines, namely G361, SK-MEL3, A375 and SAN. Enzastaurin IC50 was calculated by measure of growth inhibition with MTS assay and corresponded to 2 μM; the half maximal cytotoxicity of doxorubicin was obtained at 3 μM dose.

Giant congenital melanocytic naevus with proliferative nodules mimicking congenital malignant melanoma: a case report and review of the literature of congenital melanoma.

Congenital malignant melanoma (CMM) is a rare condition that is defined as malignant melanoma recognized at birth. CMM may develop in utero in one of three ways: (1) transmission by metastasis through the placenta from a mother with melanoma; (2) primary melanoma arising within a giant congenital melanocytic naevus (GCMN); (3) primary de novo cutaneous CMM arising in utero. CMM can be confused clinically and histologically with benign proliferative melanocytic lesions such as giant congenital nevi.

Diagnostic accuracy of confocal laser endomicroscopy in diagnosing dysplasia in patients affected by long-standing ulcerative colitis.

Aim: To evaluate the diagnostic accuracy of confocal laser endomicroscopy (CLE) for the detection of dysplasia in long-standing ulcerative colitis (UC).

Methods: We prospectively performed a surveillance colonoscopy in 51 patients affected by long-standing UC. Also, in the presence of macroscopic areas with suspected dysplasia, both targeted contrasted indigo carmine endoscopic assessment and probe-based CLE were performed.