Revisiting negative pressure wound therapy from a mechanobiological perspective supported by clinical and pathological data.

Negative pressure wound therapy is used often in the management of surgical incisions, chronic wounds and subacute lesions, and there are numerous publications discussing its clinical application and outcomes. However, whilst clinical use and associated literature have expanded since these systems became commercially available in the 90s, important research and discussion around the mode of action have waned, leading to a deficit in the understanding of how this important therapy influences healing. Further, much research and many publications are predominantly reflective, discussing early theorem, some of which have been proven incorrect, or at least not fully resolved leading to misunderstandings as to how the therapy works, thus potentially denying the clinician the opportunity to optimise use towards improved clinical and economic outcomes.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating or impairing its protein product kinase activity have been reported, making next-generation sequencing (NGS) and chromosomal microarray analysis (CMA) the standard diagnostic tests. We report a suspicious case of CDD in a female child who tested negative upon NGS and CMA and harbored an X chromosome de novo pericentric inversion.

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Background: Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects.

Case Presentation: We report on a patient presenting with severe anemia, splenomegaly, mild intellectual disability and facial dysmorphisms harboring a 4.

Acute colonic pseudo-obstruction in elderly Report of a case.

A case of acute colonic obstruction in an elderly patient is presented, with a brief discussion about peculiar aspects to pseudo-obstruction and particularly chronic idiopathic intestinal pseudo-obstruction (CIIP), in which it was classified by pathologists. Clinical and therapeutic implications of this classification are also discussed. In authors'opinion, interesting aspects of the reported case are represented by the acute presentation, without previous symptoms at medical history and above all by the evidence of a recto-sigmoid junction intraoperatively palpable mass, mimicking ring-like neoplastic disease.

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs).

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis.

Congenital leukemia is rare disease with an incidence of one to five cases per million births. Transient abnormal myelopoiesis (TAM), also called transient myeloproliferative disorder, is a pre-leukemia disorder that may occur in Down syndrome (DS) or non-DS infants. TAM may enter spontaneous remission; however, continual monitoring is required, as this disorder has been observed to develop into acute megakaryoblastic leukemia in 16-30% of cases.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Background: Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sanger sequencing. Nevertheless, these techniques show some limitations.

Hypoplastic left heart syndrome and 21q22.3 deletion.

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect (CHD), associated with extracardiac anomalies in the 15-28% of cases, in the setting of chromosomal anomalies, mendelian disorders, and organ defects. We report on a syndromic female newborn with HLHS and terminal 21q22.3 deletion (del 21q22.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Background: Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. This group of related disorders, so-called RASopathies, is caused by germline mutations in distinct genes encoding for components of the RAS-MAPK signalling pathway. Due to high number of genes associated with these disorders, standard diagnostic testing requires expensive and time consuming approaches using Sanger sequencing.

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Background: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost.

7T μMRI of mesenteric venous ischemia in a rat model: timing of the appearance of findings.

Objectives: The aim of this study is to analyze the chronological development of macroscopic, microscopic and magnetic resonance imaging (MRI) findings in a rat model of Superior Mesenteric Venous (SMV) ligation, and to evaluate the role of MRI in the diagnosis of mesenteric venous thrombosis.

Methods: Thirty adult Sprague-Dawley rats were used and divided in two different groups that underwent a different surgical model and a different monitoring of ischemic damage. Group I underwent macroscopical and histological observation; Group II underwent 7T μMRI evaluation and histological analysis.

[Prevalence of pain in the hospital: results from a survey among inpatients in a teaching hospital].

Introduction: The aim of the study was to conduct a cross sectional study on pain among inpatients and outpatients in a large teaching hospital.

Methods: The study was carried out at the Policlinico "Umberto I", Rome, in October 2009, using a questionnaire developed by Gigi Ghirotti Foundation. The pain intensity was graded mild (VAS scale 1-3), moderate (VAS 4-6) and severe (7-10).

Lipid-rich histology in a basal-type immuno-profile breast carcinoma: a clinicopathological histochemical and immunohistochemical analysis of a case.

We describe the clinicopathological and morphological features of an unusual breast carcinoma classifiable as a lipid-rich variant of ductal invasive carcinoma, with a basal-type immunohistochemical profile. Basal-type breast cancers show no hormonal receptor expression, rarely over-express HER-2 but exhibit molecular high weight cytokeratins, EGFR and c-kit positivity. Special stains and histochemistry tests were used to elucidate the nature of vescicles in the neoplastic cells.

Nevoid melanoma of the vagina: report of one case diagnosed on thin layer cytological preparations.

Background: Primary melanoma of the vagina is an extremely rare neoplasm with approximately 250 reported cases in the world literature 1234. In its amelanotic variant this lesion may raise several differential diagnostic problems in cytological specimens 5. In this setting, the usage of thin layer cytopathological techniques (Liquid Based Preparations = LBP) may enhance the diagnostic sensitivity by permitting immunocytochemical study without having to repeat the sampling procedure.

Fine needle aspiration cytolog of perineal alveolar rhabdomyosarcoma: cytohistopathologic and immunocytochemical correlations.

Objective: To describe the cytopathologic findings in a case of alveolar rhabdomyosarcoma (ARMS) of the perineum in a 13-year-old girl and to compare the cytopathologic findings with the histopathologic and immunohistochemical features observed on the corresponding fragments obtained from core biopsy of the mass.

Study Design: The cytopathologic findings observed in fine needle aspiration biopsy of a vulvar mass were analyzed with reference to their predictive diagnostic value in pathologic evaluation of the lesion.

Results: Following a prospective cytopathologic diagnosis of ARMS, a cutting needle core biopsy was performed.

Endorectal coil MRI in local staging of rectal cancer.

Purpose: The choice of the therapeutic strategies in patients affected with rectal cancer is strictly dependent by the tumor stage. So, in order to obtain an improvement in preoperative staging accuracy, new imaging modalities are now under investigation. The aim of this work is the evaluation of endorectal-coil MRI in the local staging of rectal cancer.