Severe Hypernatremia as Presentation of Netherton Syndrome.

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for failure to thrive and feeding difficulties. At birth, the infant was admitted to intensive care for severe hypernatremia (natremia 186 mg/dL). Upon entering the ward, the general conditions were poor. He presented with diffuse erythrodermia. A dermatological evaluation showed evidence of "invaginated trichuriasis," a typical sign of Netherton syndrome. Netherton syndrome is caused by a genetic mutation causing loss of function of the SPINK5 gene it encodes for the LEKTI protein, normally expressed in epithelia. Loss of LEKTI induces severe skin barrier defect. The history of the disease is characterized by serious potential complications in the first months of life, such as the risk of hypernatremic dehydration induced by high skin permeability, recurrent and/or severe infections, and growth retardation.

Enzymatic-microwave assisted extraction and high-performance liquid chromatography-mass spectrometry for the determination of selected veterinary antibiotics in fish and mussel samples.

A new method based on enzymatic-microwave assisted extraction prior to high performance liquid chromatography (HPLC) has been developed for the determination of 11 antibiotics (drugs) and the main metabolites of five of them in fish tissue and mussel samples. The analysed compounds were sulfadiazine (SDI), N(4)-acetylsulfadiazine (NDI), sulfamethazine (SMZ), N(4)-acetylsulfamethazine (NMZ), sulfamerazine (SMR), N(4)-acetylsulfamerazine (NMR), sulfamethoxazole (SMX), trimetroprim (TMP), amoxicillin (AMX), amoxicilloic acid (AMA), ampicillin (AMP), ampicilloic acid (APA), chloramphenicol (CLF), thiamphenicol (TIF), oxytetracycline (OXT) and chlortetracycline (CLT). The main factors affecting the extraction efficiency were optimized in tissue of hake (Merluccius merluccius), anchovy (Engraulis encrasicolus), mussel (Mytilus sp.) and wedge sole (Solea solea). The microwave extraction was carried out using an extraction time of 5 min with 5 mL of water at 50W and posterior clean up with dichloromethane. High-performance liquid chromatography (HPLC)-mass spectrometry was used for the determination of the antibiotics. The separation of the analysed compounds was conducted by means of a Phenomenex® Gemini C(18) (150 mm × 4.6mm I.D., particle size 5 µm) analytical column with LiChroCART® LiChrospher® C(18) (4 mm × 4 mm, particle size 5 µm) guard-column. Analysed drugs were determined using formic acid 0.1% in water and acetonitrile in gradient elution mode as mobile phase. Under the optimal conditions, the average recoveries of all the analysed drugs were in the range 70-100%. The proposed method was applied to samples obtained from Mediterranean sea and also evaluated by a laboratory assay consisting in the determination of the targeted analytes in samples of Cyprinus carpio that had been previously administered the antibiotics.

Application of enzymatic probe sonication extraction for the determination of selected veterinary antibiotics and their main metabolites in fish and mussel samples.

A new method based on enzymatic probe sonication extraction prior to high-performance liquid chromatography (HPLC) has been developed for the determination of 11 antibiotics (drugs) and the main metabolites of five of them in fish tissue and mussel samples. The analytes belong to four different classes of antibiotics (sulfonamides, tetracyclines, penicillins and amphenicols). The analysed compounds were sulfadiazine (SDI) and N(4)-acetylsulfadiazine (NDI) metabolite, sulfamethazine (SMZ) and N(4)-acetylsulfamethazine (NMZ), sulfamerazine (SMR) and N(4)-acetylsulfamerazine (NMR), sulfamethoxazole (SMX), trimetroprim (TMP), amoxicillin (AMX) and its main metabolite amoxicilloic acid (AMA), ampicillin (AMP) and its main metabolite ampicilloic acid (APA), chloramphenicol (CLF), thiamphenicol (TIF), oxytetracycline (OXT) and chlortetracycline (CLT). The main factors affecting the extraction efficiency (type of enzyme, type and volume of extractant, ultrasounds power and extraction time) were optimised in tissue of hake (Merluccius merluccius), anchovy (Engraulis encrasicolus), mussel (Mytilus sp.) and wedge sole (Solea solea). The extraction was carried out using an extraction time of 5 min with 5 mL of water and subsequent clean-up with dichloromethane. High-performance liquid chromatography (HPLC) with diode array (DAD) and fluorescence (FLD) detectors was used for the determination of the antibiotics. The separation of the analysed compounds was conducted by means of a Phenomenex Gemini C(18) (150 mm x 4.6 mm I.D., particle size 5 microm) analytical column with LiChroCART LiChrospher C(18) (4 mm x 4 mm, particle size 5 microm) guard-column. Analysed drugs were determined using formic acid 0.1% (v/v) in water and acetonitrile in gradient elution mode as mobile phase. The proposed method was also evaluated by a laboratory assay consisting of the determination of the targeted analytes in samples of Cyprinus carpio which had previously administered the antibiotics.

Simultaneous determination of 11 antibiotics and their main metabolites from four different groups by reversed-phase high-performance liquid chromatography-diode array-fluorescence (HPLC-DAD-FLD) in human urine samples.

A new, accurate and sensitive reversed-phase high-performance liquid chromatography (RP-HPLC) as analytical method for the quantitative determination of 11 antibiotics (drugs) and the main metabolites of five of them present in human urine has been worked out, optimized and validated. The analytes belong to four different groups of antibiotics (sulfonamides, tetracyclines, penicillins and anphenicols). The analyzed compounds were sulfadiazine (SDI) and its N(4)-acetylsulfadiazine (NDI) metabolite, sulfamethazine (SMZ) and its N(4)-acetylsulfamethazine (NMZ), sulfamerazine (SMR) and its N(4)-acetylsulfamerazine (NMR), sulfamethoxazole (SMX), trimetroprim (TMP), amoxicillin (AMX) and its main metabolite amoxicilloic acid (AMA), ampicillin (AMP) and its main metabolite ampicilloic acid (APA), chloramphenicol (CLF), thiamphenicol (TIF), oxytetracycline (OXT) and chlortetracycline (CLT). For HPLC analysis, diode array (DAD) and fluorescence (FLD) detectors were used. The separation of the analyzed compounds was conducted by means of a Phenomenex Gemini C(18) (150mm x 4.6mm I.D., particle size 5microm) analytical column with LiChroCART LiChrospher C(18) (4mm x 4mm, particle size 5microm) guard column. Analyzed drugs were determined within 34min using formic acid 0.1% in water and acetonitrile in gradient elution mode as mobile phase. A linear response was observed for all compounds in the range of concentration studied. Two procedures were optimized for sample preparation: a direct treatment with methanol and acetonitrile and a solid phase extraction procedure using Bond Elut Plexa columns. The method was applied to the determination of the analytes in human urine from volunteers under treatment with different pharmaceutical formulations. This method can be successfully applied to routine determination of all these drugs in human urine samples.

Assessment of acceptability and ease of use of atovaquone/proguanil medication in subjects undergoing malaria prophylaxis.

OBJECTIVE: International travelers from non-endemic areas are at high risk of contracting malaria due to their lack of immunity. Prevention is therefore of outmost importance and is achieved through effective and safe chemoprophylaxis, which reduces the risk of fatal disease. Among the various antimalarial drugs available, the synergistic combination of atovaquone and proguanil (A/P) (Malarone((R)); Glaxo-SmithKline) has proven a valuable option in terms of effective protection against chloroquine and multi-drug resistant falciparum malaria, safety, tolerability, and ease of use, thus favoring compliance. The purpose of the present study was to assess acceptability and ease of use of A/P chemoprophylaxis in a population of employees of the oil industry bound to malarious areas. Particular attention was paid to treatment adherence. METHODS: A survey was conducted on a sample of 700 employees on A/P chemoprophylaxis. Demographic data and specific information on A/P treatment were collected by means of a 16-item questionnaire administered immediately before departure. All questionnaires returned were then entered into a database and statistically analyzed. RESULTS: Both habitual and first-time travelers showed good adherence to A/P chemoprophylactic regimen. In general, only few adverse side-effects were reported, none of which were serious. Travelers with previous experience of other antimalarials stated A/P prophylaxis had proven advantageous due to fewer adverse reactions, better condition of administration, and better sense of protection compared with other available treatments.

[Health management of Saipem workers with projects involving abroad activities]. / Gestione della salute dei dipendenti Saipem S.p.A. assegnati ai progetti lavorativi all'estero.

In remote areas and in developing countries, where adequate health-care structures are few and sparse, Occupational Medicine contributes to guaranteeing workers' health. Companies like Saipem, involved in activities that are carried out in remote, inhospitable areas must ensure the safety and guarantee the health conditions of workers in relation to the risk factors connected with the job as well as with the environment in which it is performed. In such situations, Occupational Medicine addresses both the health aspects of the workplace and of the community, and is the pivot around which revolves the health-care support of workers employed abroad in the sense of protection and enhancement of health. The risks connected with work abroad are of three main types: 1) job-related risks; 2) risks connected with the environment; 3) risks related to the organization of work and the changes in the worker's daily life. The job-related risks are similar to those connected with analogous jobs performed elsewhere. The risks connected with the environment are related to adverse climatic conditions, extreme temperatures and unknown and often dangerous flora and fauna. The occupational physician is called upon to assess the suitability of workers for jobs that are based in remote areas. The main clinical conditions that can prevent issue of the Medical Fitness Certificate to workers for long-stay jobs abroad are discussed.

The contraceptive effects of etoprine on male mice and rats.

We had previously found that 2,4-diaminopyrimidines affected spermatogenesis, possibly through the inhibition of testicular dihydrofolate reductase (DHFR). The current study examined the effects of etoprine, a highly lipophilic 2,4-diaminopyrimidine that is also a potent DHFR inhibitor, on the fertility of male mice at various dosages (0.1-50 mg/kg/day) for 55 days and male rats at 5 mg/kg/day for 65 days. Two other substituted diaminopyrimidines were tested at dosages of 50 mg/kg/day for 55 days. Results of breeding trials along with assessment of various parameters indicative of male fertility were noted. We found that of the compounds tested, etoprine is a potent antifertility agent that causes complete infertility at doses of > or = 5 mg/kg/day in mice with a threshold of effectiveness occurring between 1 and 5 mg/kg/day. The antifertility action of etoprine may be related to its capacity to inhibit testicular DHFR and its high degree of lipophilicity.