Protein carbonyl group content in patients affected by familiar chronic nail candidiasis.

Familiar chronic nail candidiasis (FCNC) is a rare disorder characterized by early-onset infections caused by different species of Candida, restricted to the nail of the hands and feet, and associated with a low serum concentration of intercellular adhesion molecule 1. Host defense mechanisms against candidiasis require the cooperation of many immune cells through several candidacidal mechanisms, including oxygen-dependent killing mechanisms, mediated by a superoxide anion radical myeloperoxidase--H2O2--halide system, and reactive nitrogen intermediates. We analyzed protein carbonyl groups (considered a useful marker of oxidative stress) in the serum of patients belonging to a five-generation Italian family with an isolated form of FCNC. Serum protein carbonyl groups in FCNC patients were significantly lower than those measured in healthy donors. Also, if this hypothesis is merely speculative, we could suggest that the decreased circulating level of protein carbonyl groups in these patients is not a marker of a lower oxidative stress condition, but might be linked to a lower protease activity

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce

Enabling precision manufacturing of active pharmaceutical ingredients: workflow for seeded cooling continuous crystallisations

Continuous manufacturing is widely used for the production of commodity products. Currently, it is attracting increasing interest from the pharmaceutical industry and regulatory agencies as a means to provide a consistent supply of medicines. Crystallisation is a key operation in the isolation of the majority of pharmaceuticals and has been demonstrated in a continuous manner on a number of compounds using a range of processing technologies and scales. Whilst basic design principles for crystallisations and continuous processes are known, applying these in the context of rapid pharmaceutical process development with the associated constraints of speed to market and limited material availability is challenging. A systematic approach for continuous crystallisation process design is required to avoid the risk that decisions made on one aspect of the process conspire to make a later development step or steps, either for crystallisation or another unit operation, more difficult. In response to this industry challenge, an innovative system-wide approach to decision making has been developed to support rapid, systematic, and efficient continuous seeded cooling crystallisation process design. For continuous crystallisation, the goal is to develop and operate a robust, consistent process with tight control of particle attributes. Here, an innovative system-based workflow is presented that addresses this challenge. The aim, methodology, key decisions and output at each at stage are defined and a case study is presented demonstrating the successful application of the workflow for the rapid design of processes to produce kilo quantities of product with distinct, specified attributes suited to the pharmaceutical development environment. This work concludes with a vision for future applications of workflows in continuous manufacturing development to achieve rapid performance based design of pharmaceuticals

MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/ aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs

Incidenza delle allergopatie nella popolazione pediatrica della nostra provincia

Con questo lavoro vogliamo riferire la nostra esperienza di ambulatorio di Broncopneumologia pediatrica, attraverso un’analisi retrospettiva essenzialmente dei dati dei Prick Test, da noi eseguiti, per avere un orientamento più preciso dell’incidenza dei singoli allergeni nella popolazione pediatrica della nostra provincia. Abbiamo valutato n° 220 prick test, di pazienti di età compresa tra 4 mesi e 18 anni, da noi eseguiti negli ultimi due anni. Sono risultati positivi, per almeno un allergene, n° 113 (51.4%), mentre sono risultati negativi n° 107 (48.6%). L’utenza delle nostre strutture, bambini della città e provincia, si verifica nella maggior parte dei casi per allergia agli acari della polvere, che spesso determinano una monosensibilizzazione, seguiti in ordine di incidenza da Parietaria, Olivo e graminacee. Si vuole inoltre sottolineare: — l’allergene della Parietaria si comporta nel nostro territorio come allergene perenne; — l’importanza dell’allergia all’Olivo, che nelle nostre zone, pur presentando lo stesso andamento stagionale, ha una maggiore incidenza rispetto alle regioni settentrionali. — l’allergia alimentare nella nostra esperienza mostra un’incidenza non elevata

Su un caso di asma emozionale

Gli autori hanno ritenuto interessante la pubblicazione di questo caso per sottolineare la complessità della dinamica etiopatogenetica dell’asma, che va riferita non solo a stimoli allergici ma spesso a tanti altri fattori che non implicano un meccanismo IgE-mediato

Alcune valutazioni etiopatogenetiche della sindrome orticaria angioedema

UAS is provoked only in a few cases by IgE-mediated mecchanism (28,5% on our patients). Most of ou children (71,5%) with UAS show skin tests and RAST negative to all inhalant or alimentary antigens. Clinical history eliminations diets and challenges are until now the best diagnostic approach