Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

La enfermedad de Creutzfeldt-Jakob (ECJ) es una rara enfermedad neurodegenerativa con una alta incidencia en Chile respecto del resto del mundo. El cuadro se caracteriza principalmente por desarrollo de demencia rápidamente progresiva y diversos signos neurológicos inespecíficos, siendo el más frecuente la mioclonía. El caso que se describirá a continuación destaca por las manifestaciones iniciales atípicas que presentó el paciente, tales como compromiso sensitivo en región cráneo-cérvico-dorsal y polineuropatía periférica de extremidades inferiores (EEII), lo que significó un retraso en el diagnóstico clínico de la ECJ. Es importante conocer los diferentes síntomas y signos que pueden presentarse en el cuadro clínico de ECJ, tanto típicos como aquellos menos frecuentes, para así poder dar con el diagnóstico de la enfermedad en etapas más tempranas. De igual manera, es fundamental contar con herramientas diagnósticas como la detección de proteína 14-3-3 o proteína Tau en los centros de salud de nuestro país. Esto permitiría al equipo de salud, brindar un manejo de soporte adecuado y oportuno a estos pacientes.

Creutzfeldt-Jakob disease is a rare neurodegenerative disease with a high incidence in Chile compared to the rest of the world. The condition is mainly characterized by the development of rapidly progressive dementia and various nonspecific neurological signs, the most common being myoclonus. The case that will be described below stands out for the atypical initial manifestations that the patient presented, such as sensory compromise in the cranio-cervico-dorsal region and peripheral polyneuropathy of the lower extremities, which meant a delay in the clinical diagnosis of the disease. It is important to know the different symptoms and signs that can be present in the clinical picture of CJD, both typical and those less frequent, in order to be able to diagnose the disease in earlier stages. Similarly, it is essential to have diagnostic tools such as the detection of 14-3-3 protein or Tau protein in health centers in our country. This would allow the health team to provide adequate and timely support management to these patients.

A dietary supplement to reduce side effects of oral isotretinoin therapy in acne patients.

AIM: The purpose of the study was to analyze the potential capacity of a dietary supplement, based on gamma linolenic acid, vitamin E, vitamin C, beta-carotene, coenzyme Q10 and Vitis Vitifera, to reduce side effects, in particular the dry skin, erythema and desquamation, due to treatment with oral isotretinoin, and evaluate the ability of the product to increase adherence to therapy in patients with acne. METHODS: Forty-eight patients with nodular acne (32 females and 16 males) were randomly divided into 2 groups: 24 received isotretinoin therapy (20-30 mg/day) for 6 months associated to dietary supplement (twice a day), while the other 24 patients received only isotretinoin (20-30 mg/day) for 6 months. For all patients the degree of acne severity, through GAGS (Global Acne Grading System), the sebum production by Sebutape, the hydration by Corneometer and the erythema by Mexameter, were measured. We have also evaluated the adherence to treatment, asking to patients how many days a week they follow the therapy. RESULTS: Patients treated with dietary supplement had lower side effects, with a less degree of erythema and dryness, and greater degree of hydration; a greater adherence to therapy was also reported. CONCLUSION: Thanks to antioxidant and moisturizing properties, the dietary supplement containing gamma linolenic acid, vitamin E, vitamin C, betacarotene, coenzyme Q10 and Vitis Vitifera, can be considered a useful supplement in the treatment and prevention of dry skin associated with the use of oral isotretinoin.

Development of user-friendly functional molecular markers for VvDXS gene conferring muscat flavor in grapevine.

High fruit and wine quality combined with good climatic adaptation and disease resistance are essential objectives of grape breeding. While several molecular markers are available for pyramiding resistance to fungal pathogens, molecular tools for predicting fruit composition are still scarce. Muscat flavor, caused by the accumulation of monoterpenoids in the berry, is an important target trait for breeding, sought after in both table grapes and wine. Four missense mutations in the VvDXS gene in grape germplasm have been shown to be tightly linked to muscat flavor. Here we present highly reproducible and breeder-friendly functional markers for each of the targeted polymorphisms developed by using either the multiplexed minisequencing SNaPshot™ method, the high-resolution melting (HRM) assay or the cleaved amplified polymorphic sequence system. A total of 242 grapevine accessions were analyzed to optimize these different genotyping methods and to provide allele-specific markers for accurate selection of muscat flavor at early stages of grape breeding programs. The HRM and the minisequencing SNaPshot multiplex assays allow for high-throughput automated screening and are suitable for large-scale breeding programs and germplasm characterization.

[Survey on alcohol and construction workers]. / Indagine conoscitiva su alcool e lavoro in edilizia.

On the basis of the data drawn by national and international literature and the introduction of legislation concerning "alcohol and alcohol-related problems" authors studied alcohol consumption in a group of 512 building workers during the periodic health surveillance examination (years 2011-2012). Another group of 209 construction workers were examined for alcohol concentration in expired air and during work on building sites. In the first group, 62.1% of workers refers to drink alcoholic beverages; we found GGT and CTD alterations in about 1/3 of workers who reported high alcohol consumption. Alcohol tests in building sites demonstrated that alcohol consumption during pauses in work is still common.

[Efficacy and tolerability of 5% minoxidil solution (Carexidil®) in male and female androgenetic alopecia: a 6-month open multicentric study]. / Minoxidil 5% (Carexidil®) soluzione cutanea per il trattamento dell'alopecia androgenetica maschile e femminile: studio clinico multicentrico in aperto.

AIM: The aim of the study was to evaluate efficacy and safety of 5% Carexidil solution®, applied twice a day on the scalp, on male and female androgenetic alopecia. METHODS: The 6 month-study was performed in three Italian dermatological centers. Evaluation of efficacy was performed with subjective and objective methods, including operator and patient assessments, global photography and videodermoscopy. RESULTS: Global photography revealed that after 6 months of treatment with 5% Carexidil solution®, androgenetic alopecia was improved in all 32 females and 16 males. Alopecia stopped to progress in 6 males. Scalp videodermoscopy confirmed the results. Some patients complained of increased hair greasiness, others complained of mild scalp itching. Two female patients developed contact sensitization to minoxidil, confirmed by patch test, 2 a mild malar-temporal hypertrichosis. All patients were satisfied by treatment and continued it after the end of the study. CONCLUSION: Our study confirms the data of the literature and the evidence coming from years of clinical experience, that twice a day topical application of 5% minoxidil solution, Carexidil ®, is effective in the treatment of male and female androgenetic alopecia, with evident efficacy already after 6 months.

Long-term outcome on kidney retransplantation: a review of 100 cases from a single center.

Renal transplantation has become an effective form of treatment for end-stage renal failure. Unfortunately, as a consequence of immunological and nonimmunological pathogenic mechanisms, chronic allograft nephropathy is responsible for the loss of a large proportion of kidney grafts after several years and return to dialysis. We have reported herein our 24 years of experience with second kidney transplantations. Of 1,302 kidney transplantations between January 1983 and June 2007 performed in our transplantation center, 100 were second transplantations. Kidney retransplantation was performed in 74 men and 26 women of overall mean age of 35.4 +/- 12.6 years. Cadaveric donor grafts were transplanted in 92 patients, whereas the remaining 8 were living-related donor kidneys. At 1, 5, and 10 years after kidney transplantation, patient survival rates were 100%, 96%, and 92%, respectively, whereas graft survival rates were 85%, 72%, and 53%, respectively. Immunosuppressive therapy included induction therapy with polyclonal anti-lymphocyte antibodies (ALG/ATG) or (starting from 1999) monoclonal anti CD 25 antibody. Our results demonstrated good outcomes for kidney retransplantations with allocation based on anti- HLA antibody identification together with induction immunosuppression.

Codon and aminoacid usage patterns in mycobacteria.

The large number of organisms and of genes sequenced at the present time permits now to study molecular evolution in such lower clades as genera, species, and subspecies. Here, we focus our attention on the genus Mycobacterium, in which we examined codon and aminoacid usage in 13 species, and in 12 subspecies for a total of 8,836,513 codons from 26,755 sequences. Within the genus Mycobacterium, frequencies of codon and aminoacid usage correlate between species and between subspecies. In the groups studied, aminoacid molecular weight and codon degeneracy influence correlations between frequencies, while GC content is the main factor influencing the effective number of codons. The coding GC, which is highly correlated with total genomic GC content, seems to be the main factor influencing present synonymous codon usage in the genus. In particular, the GC content at the 3rd base position seems to shape heavily the effective number of codons, giving indication that here mutational bias dominates over translational selection. Evolutionary trees based on codon and aminoacid usage are consistent with traditional phylogenies of species within the genus.

General preadaptation of viral infectors to their hosts.

We tested the hypothesis of optimal adaptation of viral infectors to eukaryotic hosts, using (1) correlation in codon and amino acid usage between organisms, and (2) canonical correlation between groups of hosts and infectors. The codon correlations between parasites and hosts vary, being low between swine and African swine fever virus (ASF; r = 0.18), and highest between potato and potato virus X (r = 0.60). The correlations might indicate different stages of evolution toward optimal adaptation of the parasite codon distribution to the host tRNA pools. The amino acid correlations vary from r = 0.71 between pig and ASF, to 0.88 between catfish and its herpesvirus. It was observed that both in virus and hosts, there is a negative correlation between frequency of an amino acid and molecular weight. Therefore, it was advanced that viral infectors might be preadapted to their hosts because of similarities of the tRNA pools of hosts, and that evolution toward optimization would be dependent on the size of the divergence between the codon distributions of infector and host. Preadaptation does not imply origin of the virus by lateral transfer from the present host, since the correlation of the molecular weight of amino acids with their abundance in proteins is a general phenomenon.

[Alcohol and construction workers]. / Alcol e lavoro in edilizia.

BACKGROUND AND OBJECTIVES: On the basis of the data drawn by national and international literature and the introduction of recent legislation concerning "alcohol and alcohol-related problems", we studied alcohol consumption and the consequences that alcohol abuse has on health, working ability, accidents and absenteeism in construction workers. METHODS: We studied alcohol consumption in two groups of building workers over different periods (1996-2000; 2006). In 142 workers alcohol concentration was measured in expired air during the periodic health surveillance examination and during work on building sites. We also analyzed the relationship between declared alcohol consumption, accidents and absenteeism. RESULTS: Our study showed a reduction in the average consumption of alcohol over the last ten years but confirmed the role of alcohol-related diseases as a cause of work limitations or work disability. On the other hand, "breathalysing" demonstrated that alcohol consumption during pauses in work is still common. CONCLUSIONS: The results of this study confirm the correlation between frequency/seriousness of accidents, absenteeism and average consumption of alcohol.

Amino acid and codon use: in two influenza viruses and three hosts.

OBJECTIVE: The aim of this study was to compare the use of amino acids and codons in influenza viruses A and B and in their common hosts, to highlight any relevant difference. METHODS: The frequency of the 20 amino acids and of the 61 codons was studied in influenza viruses A, B, and in man, pig, and chicken. The correlation in amino acid and codon use among these hosts was calculated. RESULTS: The correlation between the frequency of the 20 amino acids and the molecular weight was also calculated and it was very similar in all studied hosts, ranging from 0.506 to 0.595. The correlation of codon frequency among these organisms was highest between man and chicken (r=0.974), and lowest between pig and virus B (r=0.147). CONCLUSIONS: The important correlation in codon use among the three hosts and the two viruses suggests there was a remote lateral gene transfer among the three hosts and the two viruses. The higher use of alanine, leucine, and proline in man versus virus A is significant.

[Training individuals of the construction sector in the province of Bergamo: a shared path division and an operative proposal]. / La formazione delle figure di sistema del comparto edilizia nella provincia di Bergamo: un percorso condiviso ed una proposta operativa.

With this presentation it will be introduced the experience of the work group native of Bergamo who is taken care to plan the formation course for the professional figures of system in building. The group is formed from the greater agencies present on the territory, their work is to ensure the protection of the health and the emergency of the workers in the field of the constructions. The objective is to use the formation course in order to diffuse one culture of the emergency. In the specific one they will come to describe the various planning phases of the course of formation for employers that mean to elect himself Responsible of the Service of Prevention and Protection (RSPP).

Comparison of floor sanitation methods.

Two methods for cleaning waxed polyvinylchloride and porcelain grès hospital room floors were compared in order to determine their decontamination capacity: dry wiping followed by damp washing, and damp washing followed by dry wiping. Dry wiping followed by damp washing did not produce any significant reduction in the average bacterial load. However, damp washing followed by dry wiping reduced the bacterial load for both types of flooring. The difference was statistically significant.

Skin rash and splinter hemorrhages from ganciclovir.

Ganciclovir is a nucleotide-analogue similar to acyclovir, which has an in vitro activity against herpes simplex type 1, herpes simplex type 2 and varicella zoster virus. Numerous studies suggest that ganciclovir has clinical efficacy against cytomegalovirus disease, as well as an in vivo antiviral effect, and that this agent reduces morbidity of serious cytomegalovirus infections in immunocompromised patients. Generalised cutaneous rash associated with ganciclovir therapy has rarely been reported in literature.

Onychomycosis caused by nondermatophytic molds: clinical features and response to treatment of 59 cases.

BACKGROUND: Nail invasion by nondermatophytic molds (NDM) is considered uncommon with prevalence rates ranging from 1.45% to 17. 6%. OBJECTIVE: We report the clinical features and response to treatment of onychomycosis caused by these molds. METHODS: From 1995 through 1998 we performed a mycologic study on 1548 patients affected by nail disorders, and we diagnosed 431 cases of onychomycosis including 59 cases of onychomycosis caused by molds. These include 17 patients with onychomycosis caused by Scopulariopsis brevicaulis, 26 patients with onychomycosis caused by Fusarium sp, 9 patients with onychomycosis caused by Acremonium sp, and 7 patients with onychomycosis caused by Aspergillus sp. RESULTS: Onychomycosis caused by S brevicaulis, Fusarium sp, and Aspergillus sp may often be suspected by clinical examination. In fact 38 of 50 patients with onychomycosis resulting from these molds were affected by proximal subungual onychomycosis associated with inflammation of the proximal nailfold. In our experience mold onychomycosis is not significantly associated with systemic diseases or immunodepression. NDM are difficult to eradicate; by using and combining different treatments (systemic itraconazole, systemic terbinafine, topical terbinafine after nail plate avulsion, and ciclopirox nail lacquer) we were able to cure only 69.2% of patients with S brevicaulis onychomycosis, 71.4% of patients with Acremonium onychomycosis, and 40% of patients with Fusarium onychomycosis. Aspergillus onychomycosis, on the other hand, responded very well to therapy and all our patients were cured after systemic or topical treatment. Eradication of the mold produced a complete cure of the nail abnormalities in all the patients who responded to treatment. CONCLUSION: Clinical examination usually suggests diagnosis of onychomycosis resulting from NDM. Topical treatment can be more successful than systemic therapy to cure onychomycosis caused by S brevicaulis, Fusarium sp, and Acremonium sp.