Pharma-metabolomics in neonatology: is it a dream or a fact?

The 'omics' technologies represent analytical approaches that have a holistic view on molecules such as genes, transcripts, proteins and metabolites constituting a cell, tissue or organism. The profiling of genes, transcripts and proteins has been referred to as genomics, transcriptomics and proteomics. Finally, there is the youngest and most rapidly increasing of the "omics" disciplines: metabolomics.

Upper eyelid necrosis and reconstruction after spider byte: case report and review of the literature.

Spider bites are not very common, especially in the Mediterranean area, and those affecting the ocular-palpebral region involving reconstructive surgery are particularly rare. In May 2010, the case of a Caucasian 24-year-old female patient was brought to the attention of the Dermatology Department, University of Cagliari, Italy. The patient reported she woke up feeling an intense pain with itching and that also she had noticed a spider of an unknown species on her bed.

Dermatophyte infections mimicking other skin diseases: a 154-person case survey of tinea atypica in the district of Cagliari (Italy).

Background: Although usually simple, the diagnosis of dermatophyte infection is sometimes neglected. An observational study has been realized to evaluate the role of corticosteroid exposure (tinea incognito) and of other primary characteristics of the dermatophytosis that from onset mimic other diseases and mislead an unexperienced physician.

Materials And Methods: Between 1990 and 2009, all cases of atypical dermatophytosis mimicking other skin diseases were collected from the more general number of dermatophyte infections diagnosed at the Dermatology Department of Cagliari University, Italy.

High meat consumption is associated with type 1 diabetes mellitus in a Sardinian case-control study.

The large worldwide variation in type 1 diabetes incidence and increasing incidence over time points toward important environmental risk factors. Among them, nutrition plays an important role. The objective was to investigate the relationship between type 1 diabetes and nutritional factors in pregnancy and early in life.

Family history, body mass index, selected dietary factors, menstrual history, and risk of moderate to severe acne in adolescents and young adults.

Background: Genetic and environmental components may contribute to acne causation.

Objective: We sought to assess the impact of family history, personal habits, dietary factors, and menstrual history on a new diagnosis of moderate to severe acne.

Methods: We conducted a case-control study in dermatologic outpatient clinics in Italy.

Clinical application of metabolomics in neonatology.

The youngest and more rapidly increasing "omic" discipline, called metabolomics, is the process of describing the phenotype of a cell, tissue or organism through the full complement of metabolites present. Metabolomics measure global sets of low molecular weight metabolites (including amino acids, organic acids, sugars, fatty acids, lipids, steroids, small peptides, vitamins, etc.), thus providing a "snapshot" of the metabolic status of a cell, tissue or organism in relation to genetic variations or external stimuli.

The usefulness of c-Kit in the immunohistochemical assessment of melanocytic lesions.

C-Kit (CD117), the receptor for the stem cell factor, a growth factor for melanocyte migration and proliferation, has shown differential immunostaining in various benign and malignant melanocytic lesions. The purpose of this study is to compare c-Kit immunostaining in benign nevi and in primary and metastatic malignant melanomas, to determine whether c-Kit can aid in the differential diagnosis of these lesions. c-Kit immunostaining was performed in 60 cases of pigmented lesions, including 39 benign nevi (5 blue nevi, 5 intradermal nevi, 3 junctional nevi, 15 cases of primary compound nevus, 11 cases of Spitz nevus), 18 cases of primary malignant melanoma and 3 cases of metastatic melanoma.

MiR-1 downregulation cooperates with MACC1 in promoting MET overexpression in human colon cancer.

Purpose: MET, the tyrosine kinase receptor for hepatocyte growth factor, is frequently overexpressed in colon cancers with high metastatic tendency. We aimed to evaluate the role of its negative regulators, miR-1 and miR-199a*, and its transcriptional activator, the metastasis-associated in colon cancer 1 (MACC1), in controlling MET expression in human colon cancer samples.

Experimental Design: The expression of MET, miR-1, miR-199a*, and MACC1 was evaluated by real-time PCR in 52 matched pairs of colorectal cancers and nontumoral surrounding tissues.

Deployment of distributed applications in wireless sensor networks.

The increase in computation and sensing capabilities as well as in battery duration of commercially available Wireless Sensors Network (WSN) nodes are making the paradigm of an horizontal ambient intelligence infrastructure feasible. Accordingly, the sensing, computing and communicating infrastructure is set with a programmable middleware that allows for quickly deploying different applications running on top of it so as to follow the changing ambient needs. In this scenario, we face the problem of setting up the desired application in complex scenarios with hundreds of nodes, which consists of identifying which actions should be performed by each of the nodes so as to satisfy the ambient needs while minimizing the application impact on the infrastructure battery lifetime.

A case of bullous pemphigoid in infancy treated with local corticosteroids.

Bullous pemphigoid (BP) is an immune-mediated subepidermal vesiculobullous eruption, whose true incidence is unknown, but it is considered extremely rare in children, with a usually indolent course and rare relapses. Diagnosis is often belated, because of the invasive assessment with biopsy for typical immune-pathologic findings to differentiate it from Dermatitis Herpetiformis and Linear IgA bullous dermatosis (LABD), more common in children. A 4-year-old girl presented with one year history of erythematous-edematous and erythematous-bullous eruptions on the genitalia, periocular regions, dorsal and palmo-plantar surfaces.

Cutaneous adverse drug reactions to allopurinol: 10 year observational survey of the dermatology department--Cagliari University (Italy).

Background: Allopurinol is extensively prescribed for conditions associated with urate excess, despite being responsible for severe cutaneous adverse drug reactions (ADR).

Objective: A cross-sectional survey of allopurinol cases observed at the main Dermatology Department with inpatients facilities in southern Sardinia. (approx 560,836 inhabitants).

Tinea faciei due to microsporum canis in children: a survey of 46 cases in the District of Cagliari (Italy).

Dermatophytoses are frequent in children, but involvement of the facial skin has peculiar aspects that should be considered a separate entity: tinea faciei. Microsporum canis infection in tinea faciei has not been widely documented. To review cases of tinea faciei due to M.

Metabolomics in paediatric respiratory diseases and bronchiolitis.

The metabolic study of an organism may make it possible to monitor, through the metabolites,the physiology and/or pathology of the organism itself. Metabolomics, in the strictest sense, "the set of metabolites, the final products of the genetic expression". Most clinical chemistry tests available today rely on old technologies that measure only a single chemical in blood, urine or other biofluids, and these tests are neither sensitive nor specific for any particular disease.

Metabolomic analysis of bronchoalveolar lavage fluid in preterm infants complicated by respiratory distress syndrome: preliminary results.

Objective: Metabolomics is a technique used to non-invasively determine a snapshot of the current metabolic status of an organism by analyzing intact tissue or bio-fluids. The aim of the present preliminary study was to analyze metabolic profiles in preterm infants complicated by respiratory distress syndrome (RDS) trough bronchoalveolar lavage fluid (BALF) measurement.

Methods: Twelve BALF samples collected at birth prior surfactant, post-surfactant during mechanical ventilation and at extubation time-points, were analyzed by proton nuclear magnetic resonance spectroscopy and Gas chromatography-Mass Spectrometry (GC-MS).

Clinical metabolomics and urinary NGAL for the early prediction of chronic kidney disease in healthy adults born ELBW.

Background: Clinical metabolomics is a recent "omic" technology which is defined as a global holistic overview of the personal metabolic status (fingerprinting). This technique allows to prove metabolic differences in different groups of people with the opportunity to explore interactions such as genotype-phenotype and genotype-environment type, whether normal or pathological.

Aim: To study chronic kidney injury 1) using urine metabolomic profiles of young adults born extremely low-birth weight (ELBW) and 2) correlating a biomarker of kidney injury, urinary neutrophil gelatinase-associated lipocalin (NGAL), in order to confirm the metabolomic injury profile.

Metabolomics in newborns with intrauterine growth retardation (IUGR): urine reveals markers of metabolic syndrome.

To date, we have little knowledge on the overall metabolic status of neonates with intrauterine growth retardation (IUGR). In the last few years, the analysis of metabolomics has assumed an important clinical role in identifying "disorders" in the metabolic profile of patients. The aim of this work has been to analyze the urine metabolic profiles of neonates with IUGR and compare them with controls to define the metabolic patterns associated with this pathology.

Metabolomics: a new era in cardiology?

The metabolome represents the collection of all metabolites in a biological cell, tissue, organ or organism, which are the end-products of cellular processes. Metabolomics is the systematic study of small-molecule metabolite profiles that specific cellular processes leave behind. RNA messenger gene expression data and proteomic analyses do not tell the whole story of what might be happening in a cell.

Metabolomics as a tool for cardiac research.

Metabolomics represents a paradigm shift in metabolic research, away from approaches that focus on a limited number of enzymatic reactions or single pathways, to approaches that attempt to capture the complexity of metabolic networks. Additionally, the high-throughput nature of metabolomics makes it ideal to perform biomarker screens for diseases or follow drug efficacy. In this Review, we explore the role of metabolomics in gaining mechanistic insight into cardiac disease processes, and in the search for novel biomarkers.

BARD1: an independent predictor of survival in non-small cell lung cancer.

BRCA1 mRNA overexpression is correlated with poor survival in NSCLC. However, BRCA1 functions depend on the interaction with BARD1 for its stability, nuclear localization and ubiquitin ligase activity. Expression of alternatively spliced BARD1 isoforms that lack the BRCA1-interaction domain was found upregulated and correlated with poor prognosis in breast and ovarian cancer.

1H NMR-based metabolomic analysis of urine from preterm and term neonates.

Metabolomics is a technique used to non-invasively determine metabolic status of an organism. Aim of our study was to analyze urinary metabolic profiles in term and preterm infants in order to identify gestational age-related metabolic differences and to predict metabolic maturity at birth. Twenty-six healthy term infants and 41 preterm infants were prospectively enrolled.

D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature.

Long term D-penicillamine (DPA) therapy to treat Wilson disease can induce elastosis perforans serpiginosa (EPS), a very rare degenerative skin disease characterized by a transepidermal elimination of elastic fiber aggregates. The iatrogenous disease depends on DPA capacity to chelate copper and cause its depletion. Lysyl-oxidase is a copper dependent enzyme crucial to the dermal elastic fiber cross-linking, which is strongly affected by DPA copper depletion.

Metabolomics: the "new clinical chemistry" for personalized neonatal medicine.

Metabolomics is a new approach based on the systematic study of the full complement of metabolites in a biological sample. This technology consists of two sequential steps: (1) an experimental technique, based on mass spectrometry or nuclear magnetic resonance (NMR) spectroscopy, designed to profile low molecular weight compounds, and (2) multivariate data analysis. Metabolomic analysis of biofluids or tissues has been successfully used in the fields of physiology, diagnostics, functional genomics, pharmacology, toxicology and nutrition.

A metabolomic approach in an experimental model of hypoxia-reoxygenation in newborn piglets: urine predicts outcome.

Perinatal asphyxia is one of the leading causes of morbidity and mortality in the neonatal period. Response to oxygen treatment is unpredictable and the optimum concentration of oxygen in neonatal resuscitation is still a matter of debate among neonatologists. A metabolomic approach was used to characterize the metabolic profiles of newborn hypoxic-reoxygenated piglets.