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1.
Community Dent Health ; 36(2): 95-100, 2019 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-31021567

RESUMEN

OBJECTIVES: There is limited evidence to guide oral health policy and services for the 25,000 refugees and asylum seekers who arrive in Canada yearly. The purpose of this study was to explore and understand the pre-migration use of dental services, oral health knowledge, and the effects of oral disease among newly arrived humanitarian migrants in order to inform policy and practice for the population. METHODS: Using focused ethnography and the public health model of the dental care process, we conducted face-to-face interviews (50-60 minutes) with a purposive sample of humanitarian migrants who had indicated the need for dental care. We observed mobile dental clinics that provided care to underserved communities in Montreal. Data were analyzed using a thematic and contextual approach that combined inductive and deductive frameworks. RESULTS: Participants included 25 humanitarian migrants from four global geographical regions. Five major thematic categories were explored: problem-based dental consultation, self-assessed oral health status, causes of oral diseases, personal oral hygiene, and good oral health for wellbeing. In their countries of origin, participants consulted a dentist when oral symptoms persisted. They cited excessive sugar consumption and inadequate oral hygiene as causes of oral diseases, and reported significant oral diseases impacts that limited their daily functions and wellbeing once in Canada. CONCLUSIONS: Humanitarian migrants were knowledgeable about causes of oral disease and the importance of good oral health, yet poor oral health continued to affect their lives in Canada in important ways.


Asunto(s)
Salud Bucal , Refugiados , Migrantes , Canadá , Humanos , Investigación Cualitativa
2.
Am J Transplant ; 18(9): 2220-2228, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-30019834

RESUMEN

Portal vein thrombosis (PVT) may occur at any time following liver transplantation. We describe our experience with portal vein recanalization in cases of thrombosis after liver transplantation. Twenty-eight children (5%) out of 566 liver transplant recipients underwent portal vein recanalization using a transmesenteric approach. All children received left hepatic segments, developed PVT, and had symptoms or signs of portal hypertension. Portal vein recanalization was performed via the transmesenteric route in all cases. Twenty-two (78.6%) patients underwent successful recanalization and stent placement. They received oral anticoagulants after the procedure, and clinical symptoms subsided. Symptoms recurred due to portal vein restenosis/thrombosis in seven patients. On an intention-to-treat basis, the success rate of the proposed treatment was 60.7%. Only 17 out of 28 children with posttransplant chronic PVT retained stent patency (primary + assisted) at the end of the study period. In cases of portal vein obstruction, the transmesenteric approach via minilaparotomy is technically feasible with good clinical and hemodynamic results. It is an alternative procedure to reestablish the portal flow to the liver graft that can be performed in selected cases and a therapeutic addition to other treatment strategies currently used to treat chronic PVT.


Asunto(s)
Rechazo de Injerto/prevención & control , Hepatopatías/cirugía , Regeneración Hepática , Trasplante de Hígado/efectos adversos , Vena Porta/cirugía , Trombosis de la Vena/cirugía , Niño , Preescolar , Femenino , Estudios de Seguimiento , Rechazo de Injerto/etiología , Supervivencia de Injerto , Humanos , Lactante , Masculino , Vena Porta/patología , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Tasa de Supervivencia , Trombosis de la Vena/etiología
3.
Med Lav ; 104(4): 296-318, 2013.
Artículo en Italiano | MEDLINE | ID: mdl-24228308

RESUMEN

The doctoral dissertation in Pavia in 1849 by Enrico de Betta is presented as a well-constructed, comprehensive and modern discussion of diseases ascribable to work. 150 years after Ramazzini's treatise, Enrico de Betta, through an updated knowledge of contemporary literature especially French and German, refreshed and renewed the knowledge inherited from Ramazzini in the light of the changes introduced with the beginnings of industrial hygiene and the first steps taken in occupational epidemiology. In the introduction to the text and accompanying notes, the authors offer an interpretation of the significance of overcoming the main Ramazzinian paradigms. This takes into account the current debate, especially in the French cultural sphere, on the meaning of autonomy and complementarity of the various disciplines that are the foundations of the protection and promotion of the health conditions of the working classes. It is suggested therefore that a simplistic view of Ramazzini as the unique 'father" of modern occupational health and safety at work needs to be abandoned. The work of de Betta does not seem to have had much success in Italy. The debate and interventions on the relationship between diseases and work still had to wait half a century to produce effects, but this took place in a very different context, that of Giolitti's era.


Asunto(s)
Medicina del Trabajo/historia , Accidentes de Trabajo/historia , Trastornos de Traumas Acumulados/etiología , Trastornos de Traumas Acumulados/historia , Europa (Continente) , Historia del Siglo XIX , Humanos , Industrias/historia , Italia , Enfermedades Profesionales/etiología , Enfermedades Profesionales/historia , Exposición Profesional/efectos adversos , Exposición Profesional/historia , Salud Laboral/legislación & jurisprudencia
4.
Med Lav ; 104(1): 73-80, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23520889

RESUMEN

BACKGROUND: The example examined is Milan, Italy's main industrial city, where the great International Exhibition was held in 1906. This was the culmination of a period of accelerated industrial growth that modern-day historiography considers to be when Italy's first real industrial revolution began. The twenty-five years between the National Industrial Exhibition of 1881, which was also held in Milan, and the 1906 Exhibition truly reflected a period which was crucial for this transformation to take of. Alongside industry, which was then going through a phase of reorganization and development, Milanese civil society was increasingly turning its interest and attention to what was called the "social question". In an atmosphere of debate and exchange of ideas and experience with Turin, another major industrial city of the north and the birthplace of the Italian engineering and automobile industries, social organizations, political parties and trade unions began to be established thus heralding the Italian approach towards twentieth-century welfare. RESULTS: This is the context in which the first International Congress on Occupational Diseases was held in Milan from 9 to 14 June 1906 within the framework of the International Exhibition. The success achieved with this initiative. organized by Luigi Devoto and Malachia De Cristoforis, which was to continue with the founding of the International Permanent Commission on Occupational Health, showed that the time was ripe for a new subject to appear on the scene--the occupational health physician--who from then on was to play an important role in the promotion of workers' health. CONCLUSIONS: The article outlines the main features of the Italian industrial transformation at the turn of the new century with special attention focused on Milan, the capital of industry in Italy. It also describes the impact on public opinion caused by the events surrounding the epic construction of the transalpine railway tunnels which began in 1856 with the Mont Cenis tunnel, then the tragic enterprise of the St. Gotthard tunnel in 1883, ending in 1906 with the inauguration of the Simplon tunnel. The Milan congress is examined as well as the developments which, from then on, began increasingly to give physicians specialised in occupational diseases a higher profile in events of an international nature in the defence of workers' health but also in the interests of economic development.


Asunto(s)
Accidentes de Trabajo/historia , Industrias/historia , Enfermedades Profesionales/historia , Medicina del Trabajo/historia , Congresos como Asunto/historia , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Cooperación Internacional/historia , Italia , Sindicatos/historia , Suiza
5.
Med Lav ; 103(1): 3-16, 2012.
Artículo en Italiano | MEDLINE | ID: mdl-22486071

RESUMEN

The author proposes a reading of "Concerning incombustible flax or asbestos stone" which was published in 1696 by Giovanni Giustino Ciampini, who was a historian, a man of the church and scientist in Rome. The text, which was originally written in Latin, is an excellent and early description of the need felt by the majority of scientists in Europe at that time for a change in method: that is, to use scientific experiments to explain and control the natural phenomena observed and even perhaps mythologized right from antiquity. In the case of asbestos this was necessary to check the veracity and consistency of a series of recommendations handed down by the earliest authors but also to revive and reinvent the techniques that had largely been lost so as to be able to utilize and develop a substance that it was thought could be of great benefit to society. In the presentation of Ciampini's text an attempt is made to recall and contextualize the earliest knowledge on asbestos and follow its evolution over a long historical period, up to the first half of the nineteenth century. It can thus be seen how asbestos, once considered "a wonder of nature", became a raw material widely used in industrial applications. The most significant steps in this phase of transformation were taken thanks to Italian entrepreneurs and technicians and to the presence of asbestos in the Alpine valleys of Italy.


Asunto(s)
Amianto/historia , Carcinógenos/historia , Industrias/historia , Amianto/efectos adversos , Asbestosis/etiología , Asbestosis/historia , Europa (Continente) , Historia del Siglo XVII , Historia del Siglo XVIII , Historia del Siglo XIX , Humanos , Italia , Masculino
6.
Med Lav ; 103(6): 419-26, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23405476

RESUMEN

BACKGROUND: One of the last century's greatest personalities in Occupational Medicine was Enrico Carlo Vigliani (1907-1992), director of the "Clinica del Lavoro" in Milan (1942-1977), editor-in-chief of "La Medicina del Lavoro" (1942-1991), Secretary-Treasurer and then President of the "Permanent Commission and International Association on Occupational Health" (1957-1981), the original nucleus of the ICOH. OBJECTIVES: The 20th anniversary of his death provides us with the opportunity to discuss the role of this brilliant scholar in the international development of Occupational Medicine and Industrial Hygiene. METHODS: A comprehensive analysis of Vigliani's scientific works was conducted. In addition, his close collaborators and pupils were interviewed. RESULTS: In the 1930s, as a young doctor, Vigliani, first in the world, demonstrated the effect of lead on porphyrin metabolism. Afterwards he conducted pioneering studies on occupational oncology (benzene-induced leukaemia, bladder cancer due to aromatic amines, asbestos-related tumours), pathogenesis of silicosis, encephalopathy in carbon disulfide poisoning, byssinosis and metal fume fever, so influencing international research and the implementation of preventive measures against these conditions. Vigliani's scientific authority was widely recognized internationally, as confirmed by his role in ICOH. During his period of active service, the Commission developed from an academic institution to a more open association, substantially increasing its membership. Furthermore, he contributed to establishing subcommittees devoted to specific topics (now called "scientific committees"), one of the strengths of the present Commission. CONCLUSIONS: Vigliani's contribution to the development of Occupational Health may be considered as an expression of his genial eclecticism which ranged from clinical medicine to the environment.


Asunto(s)
Salud Laboral/historia , Medicina del Trabajo/historia , Academias e Institutos/historia , Historia del Siglo XX , Internacionalidad , Italia , Enfermedades Profesionales/etiología , Enfermedades Profesionales/historia , Medicina del Trabajo/educación , Publicaciones Periódicas como Asunto/historia , Investigación/historia , Sociedades Médicas/historia
7.
Med Lav ; 102(4): 350-61, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21834272

RESUMEN

BACKGROUND: Since its foundation in 2002, the Italian Silica Network (NIS), a collaborative network of professionals and public authorities, has been engaged in several aspects of research, control, and prevention of silica exposure and effects, and also in support for compensation claims for silica-related occupational health effects in Italy. METHODS: We start with a report on the NIS point of view concerning the recent scientific results (from epidemiology and laboratory studies), including those carried out by NIS in cooperation with Italian universities and other public agencies. This is followed by a description of the data on silica exposure in different Italian workplaces and guidelines for the management of occupational exposure to silica, as developed by two model regional programmes for the ceramics industry, metal foundries and tunnel excavation. RESULTS: The NIS initiatives highlighted the persistence of workplace conditions posing a significant risk for silica-related health effects, particularly in small industries and workshops. Experimental work has also shown that a number of physical and chemical factors affect the bioreactivity of silica particles. CONCLUSION: Based on NIS experience, it appears clear that currently conditions exist in Italy so as to positively contribute to the WHO Programme for the eradication of silicosis and the other diseases related to silica exposure. In order to achieve this goal, a coordinated and wide-ranging effort is required to reduce the wide gap in specific prevention activities, particularly in small industries and workshops, where high levels of silica exposure sometimes occur.


Asunto(s)
Neoplasias Pulmonares/inducido químicamente , Enfermedades Profesionales/inducido químicamente , Exposición Profesional/efectos adversos , Exposición Profesional/prevención & control , Dióxido de Silicio/efectos adversos , Carcinógenos , Humanos , Italia , Neoplasias Pulmonares/epidemiología , Enfermedades Profesionales/epidemiología , Salud Laboral
9.
G Ital Med Lav Ergon ; 32(4 Suppl): 45-8, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-21438213

RESUMEN

This research project, in conjunction with the SIMLII foundation's 80th anniversary, is aimed to reconstruct the historical chronology of the institutional life of the Society: the Directive bodies, the by-laws, the main steps of the scientific activity, especially the Congresses of Occupational Health. The research will also analyze the most important elements of historical context explaining Society's evolution: the relationships between SIMLII and political-institutional and legislative framework, social and economic changes, medical science's evolution and the university teaching and research, and finally the interactions with the international context. The research covers the years since the first national meeting of Occupation Health, in 1907, in which scientific activity was particularly intense, although the foundation was officially only in 1929. The investigation of the documentation after the 2nd World War is aimed at reconstructing the reborn of the international relations and the social, cultural and economic changes occurred between 1968 and 1978 and the deep impact on industrial relations and the enactment of the "Statuto dei lavoratori" in 1970 and the Health Reform in 1978.


Asunto(s)
Medicina del Trabajo/historia , Sociedades Médicas/historia , Historia del Siglo XX , Historia del Siglo XXI , Italia , Factores de Tiempo
10.
Med Lav ; 101(5): 323-34, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-21110453

RESUMEN

No medical "classical" work has been in any way as successful as Ramazzini's De Morbis Artificum Diatriba. The book's success is confirmed by the constantly increasing number of new editions, emulations, translations and quotations and corresponding dissemination. As is proven by web access, our contemporaries continue to contemplate Ramazzini with admiration and wonder, confidence, devotion and curiosity and also as a means of seeking confirmation of the concepts that are variously presented. It is possible to describe a temporal phenomenon of "differential impact" of Ramazzini's work. Throughout the twentieth century, and especially on "celebrated" anniversaries (1900, 1913, 1914, 1933, 1964, 2000), many "tributes" to the author were recorded. During the nineteenth century in major European countries, but less so in Italy, Ramazzini's lesson was recorded as superseded "on an objective basis". The context had completely changed, as did both work and workers after a century-old continuity. Between the 1700's and the early 1800's Ramazzini dominated the field like a mountain in the desert; with editions of De Morbis in Latin and in translations following one on the other, with a positive cultural and popularizing impact on a public consisting of the international scientific and professional avant-garde. The means of dissemination consisted first and foremost of including all or part of the corpus of the Diatriba in "dictionaries" or "encyclopaedias" of medicine. Another means that was widely used, efficacious and typically academic, was through the doctoral theses discussed in all major European universities. Among these contributions was the thesis discussed in 1816 in Paris, by Louis-André Gosse of Geneva (1791-1873), which is presented in the previous pages in the translation from the French.


Asunto(s)
Enfermedades Profesionales/historia , Medicina del Trabajo/historia , Francia , Historia del Siglo XIX
11.
Med Lav ; 101(6): 409-15, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21141345

RESUMEN

BACKGROUND: One of the first studies that "convincingly" described the relationship between pleural mesothelioma and asbestos was made by Wagner, Sleggs and Marchard in 1960. This article, published fifty years ago, contains much of what we still know to-day about malignant mesothelioma. OBJECTIVES: The aims of this article were to analyze the historical and scientific developments that led to the publication of Wagner's paper, to critically examine its contents and to consider the contribution to the initernational debate on the carcinogenesis of asbestos fibres made by occupational medicine in Italy in that period. METHODS: A thorough analysis ofscientific and historical literature on the relationship between asbestos exposure and tumours was conducted, with special regard to the articles by Italian authors in the 1960's. RESULTS: The decisive role of Wagner's paper in understanding the aetiopathogenetic mechanisms of asbestos-related tumours is inconfutable. In particular, his article clearly demonstrated the existence of a typical cancer of the mesothelium, expressing three fundamental principles of the epidemiology of occupational cancer: association with the carcinogen, latency and individual susceptibility. Enrico Vigliani, then director of the "Clinica del Lavoro" in Milan, made important contributions to this debate, also through the collection of data regarding mortality among Italian asbestos workers. CONCLUSIONS: Wagner's 1960 paper can be considered as a milestone not only in the history of occupational and environmental health, but also in the evolution of other medical disciplines such as epidemiology, pathology and oncology. A re-appraisal of the Italian contributions to the international debate on this subject should be considered.


Asunto(s)
Amianto/efectos adversos , Mesotelioma/historia , Enfermedades Profesionales/historia , Medicina del Trabajo , Neoplasias Pleurales/historia , Congresos como Asunto/historia , Susceptibilidad a Enfermedades , Disentimientos y Disputas/historia , Historia del Siglo XX , Humanos , Italia , Mesotelioma/epidemiología , Mesotelioma/etiología , Fibras Minerales/efectos adversos , Minería , Enfermedades Profesionales/epidemiología , Enfermedades Profesionales/etiología , Medicina del Trabajo/organización & administración , Neoplasias Pleurales/epidemiología , Neoplasias Pleurales/etiología , Sudáfrica , Factores de Tiempo
12.
J Prev Med Hyg ; 59(4): E315-E322, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30656235

RESUMEN

INTRODUCTION: Correctional nursing can involve significant ethical difficulties. This study examined ethical challenges encountered by correctional nurses in the Italian region of Liguria. Empirical data were analyzed in relation to relevant ethical standards. The former involved a study of 75 nurses and managers in the Ligurian correctional system, while the latter involved an analysis of the Italian Code of Ethics for Nurses and related standards for correctional practice. METHODS: Quantitative and qualitative methods were used for the empirical study. Questionnaires were administered to collect data on participants' characteristics and care settings. The Measure of Job Satisfaction (MJS) was also administered. Five focus groups were conducted. RESULTS: Quantitative Data: Respondents identified factors that mostly impacted on recruitment and retention. Unfavourable factors included: structural, organizational, and relational factors. Favourable factors included: nursing consultation, continuing education activities, and peer support. MJS results were equal to 'unsatisfied'. Qualitative Data: five themes were identified through thematic analysis of focus group data: Health needs of incarcerated persons; Negotiation of the boundaries between care and custody; Job satisfaction related to nursing in a correctional setting; Barriers to providing good care; and Security needs. Ten categories of norms were identified in the Code as areas of ethical standards relevant for the empirical data. CONCLUSIONS: Our empirical findings demonstrate that these nursing standards can be systematically compromised in correctional settings. Nurses feel compelled to provide ethically-problematic nursing services, with situations of moral distress. This research informs the development of needed policy, educational, and practice changes for nurses in correctional settings.


Asunto(s)
Actitud del Personal de Salud , Atención de Enfermería/ética , Prisiones , Femenino , Grupos Focales , Humanos , Italia , Masculino , Principios Morales , Encuestas y Cuestionarios
13.
J Inherit Metab Dis ; 30(2): 209-16, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17245558

RESUMEN

OBJECTIVE: To gain insights into the nature and pathogenesis of white matter (WM) abnormalities in PKU. METHODS: Thirty-two patients with phenylalanine hydroxylase deficiency (21 with early and 11 with late diagnosis and treatment) and 30 healthy controls underwent an integrated clinical, neuroimaging (3.0 T MRI, diffusion-weighted imaging (DWI), diffusion tensor imaging (DTI)) and neurochemical (1H MRS) investigation. RESULTS: All patients had white matter abnormalities on T2-weighted (T2W) and fluid-attenuated inversion recovery (FLAIR) scans; parietal white was consistently affected, followed by occipital, frontal and temporal white matter. T1-weighted hypointense alterations were also found in 8 of 32 patients. DWI hyperintense areas overlapped with those detected on T2W/FLAIR. The apparent diffusion coefficient (ADC) was reduced and correlated inversely with severity of white matter involvement. Fractional anisotropy index, eigenvalues lambda(min), lambda(middle), lambda(max) obtained from DTI data, and the principal brain metabolites assessed by 1H MRS (except brain phenylalanine (Phe)) were normal. Brain Phe peak was detected in all but two subjects. Brain and blood Phe were strictly associated. Blood Phe at the diagnosis, patient's age, and concurrent brain Phe independently influence white matter alteration (as expressed by conventional MRI or ADC values). CONCLUSIONS: (a) MRI abnormalities in phenylketonuria are the result of a distinctive alteration of white matter suggesting the intracellular accumulation of a hydrophilic metabolite, which leaves unaffected white matter architecture and structure. (b) White matter abnormalities do not seem to reflect the mechanisms involved in the derangement of mental development in PKU. (c) Our data do not support the usefulness of conventional brain MRI examination in the clinical monitoring of phenylketonuria patients.


Asunto(s)
Encéfalo/patología , Imagen de Difusión por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Fenilcetonurias/diagnóstico , Adolescente , Adulto , Encéfalo/metabolismo , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenilalanina/sangre , Fenilalanina/metabolismo , Fenilcetonurias/sangre , Fenilcetonurias/metabolismo , Índice de Severidad de la Enfermedad
14.
G Ital Med Lav Ergon ; 29(3 Suppl): 297-8, 2007.
Artículo en Italiano | MEDLINE | ID: mdl-18409693

RESUMEN

The analysis of professional diseases denounced from hairdressers in Italy and in Tuscany shows among these workers a reduction of some "typical" work related diseases, like dermatitis, asthma, etc. and a raise of upper limbs disorders. The upper limbs risk assessment process is very tough for the hairdresser's activity, because the working cycle includes different tasks (shampoo, cut, dyeing, etc.) and their combination in a working day is related to customers requests. The job illustrates the first results of a project started last year from the Tuscany Technical Advisory Department for Risk Assessment and. Prevention (CONTARP) of the Italian Workers' Compensation Authority (INAIL) and PISLL "G. Pieraccini" - ASL 10 of Florence. Through a study conducted with the OCRA Check List method on a sample constituted by 12 employees of five shops of the Florentine territory, we have arrived to a job-exposure matrix that allows to draw an index of exposure to the specific risk for every task, keeping in mind the contributions of the single repetitive assignment performed by the operator during the working day.


Asunto(s)
Brazo , Peluquería , Fenómenos Biomecánicos , Exposición Profesional/efectos adversos , Femenino , Humanos , Masculino , Modelos Estadísticos
15.
Med Lav ; 96(2): 169-76, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16001517

RESUMEN

Diseases caused by dust containing silica represent an exemplary case study in the field of work-related diseases and in the history of the discovery of chronic industrial disease and its relationship to industrial society. Both dust and steam are indissolubly linked to the Industrial Revolution which everywhere was expected to replace slaves with masses of proletarians alike lesser gods. The identification of different nosological entities of dust-related diseases, the discovery that the most harmful dust particles in gold mines were invisible, insurance compensation and the development of the silicosis threshold limit value were all subjects of intense political negotiation that accompanied, with the connivance of doctors and scientists, a compromise between the health of workers and the economic health of industry. The preference for damage compensation (insurance system) over risk prevention (industrial hygienic measures) was also asserted and maintained in post-war Italy. Decline and modification of silicosis in Italy proceeded at the same rate as the introduction and subsequent application of more effective preventative legislation, especially with the protest movements of the working class at the end of the 1960s, together with the elimination of entire sectors of industrial activities, first those specialising in extraction and then the metallurgy.


Asunto(s)
Minería , Silicosis/historia , Evolución Cultural , Europa (Continente)/epidemiología , Historia del Siglo XVII , Historia del Siglo XVIII , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Historia Antigua , Humanos , Industrias , Italia/epidemiología , Masculino , Medicina del Trabajo/historia , Rol del Médico , Silicosis/diagnóstico , Silicosis/epidemiología , Silicosis/prevención & control , Justicia Social , Sudáfrica/epidemiología , Estados Unidos/epidemiología , Indemnización para Trabajadores/historia , Indemnización para Trabajadores/legislación & jurisprudencia
16.
Eur J Hum Genet ; 3(5): 294-302, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-8556304

RESUMEN

In order to identify the molecular basis of phenylketonuria (PKU) in Italy, we screened the entire coding sequence of the phenylalanine hydroxylase gene in 20 Italian PKU patients, whose origins are scattered throughout Italy. The frequency of each identified mutation and of 5 other European mutations was determined within a panel of 92 Italian PKU patients. This approach allowed us to identify 20 different PKU mutations and characterize 64% of the Italian PKU chromosomes. Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%). All the other mutations are very rare. These data confirm the great heterogeneity expected from previous RFLP haplotype studies. Genotype/phenotype correlation allowed for assessment of the clinical impact of the 20 identified mutations.


Asunto(s)
Fenilcetonurias/genética , Alelos , Secuencia de Bases , Análisis Mutacional de ADN , Cartilla de ADN , Heterogeneidad Genética , Genotipo , Humanos , Italia/epidemiología , Epidemiología Molecular , Datos de Secuencia Molecular , Mutación , Sondas de Oligonucleótidos , Fenotipo , Fenilalanina Hidroxilasa/genética , Fenilcetonurias/etnología , Polimorfismo de Longitud del Fragmento de Restricción
17.
J Bioenerg Biomembr ; 32(6): 585-93, 2000 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15254372

RESUMEN

A bioptic specimen from the muscles of a patient suffering from severe myopathy was inspected for the presence of human porin 31HL. Western blotting suggested that the specimen was free of the most abundant eukaryotic porin 31HL (HVDAC1). The specimen was treated with detergent and the soluble protein fraction was passed through a dry hydroxyapatite column. The passthrough of this column was inspected for channel formation in artificial lipid-bilayer membranes. The channel observed under these conditions had a single-channel conductance of about 2.5 nS in 1 M KCl, was cation selective, and was found to be virtually voltage independent. Experiments with a control specimen from a healthy human being, without any indication for muscle myopathy, revealed the presence of the voltage-dependent porin 31HL in the sample. It is discussed whether the patient's bioptic specimen contained another human porin, which has not been studied to date in its natural environment.


Asunto(s)
Enfermedades Musculares/metabolismo , Canal Aniónico 1 Dependiente del Voltaje/deficiencia , Biopsia , Western Blotting , Estudios de Casos y Controles , Preescolar , Electroforesis en Gel de Poliacrilamida , Humanos , Técnicas In Vitro , Membrana Dobles de Lípidos , Masculino , Potenciales de la Membrana , Músculos/metabolismo , Enfermedades Musculares/genética , Canal Aniónico 1 Dependiente del Voltaje/genética , Canal Aniónico 1 Dependiente del Voltaje/aislamiento & purificación , Canal Aniónico 1 Dependiente del Voltaje/metabolismo
18.
Am J Med Genet ; 33(2): 186-9, 1989 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-2569826

RESUMEN

We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.


Asunto(s)
Anomalías Múltiples/patología , Músculos Abdominales/anomalías , Anomalías Múltiples/genética , Blefaroptosis/complicaciones , Blefaroptosis/genética , Niño , Criptorquidismo/complicaciones , Criptorquidismo/genética , Femenino , Genes Recesivos , Luxación Congénita de la Cadera/complicaciones , Luxación Congénita de la Cadera/genética , Humanos , Masculino , Linaje , Embarazo , Estrabismo/complicaciones , Estrabismo/genética , Síndrome
19.
Am J Med Genet ; 56(2): 224-8, 1995 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-7625450

RESUMEN

We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.


Asunto(s)
Síndrome de Angelman/genética , Deleción Cromosómica , Cromosomas Humanos Par 15 , Hibridación Fluorescente in Situ/métodos , Síndrome de Prader-Willi/genética , Bandeo Cromosómico , Mapeo Cromosómico , Humanos
20.
Genet Couns ; 12(2): 145-50, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11491309

RESUMEN

In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.


Asunto(s)
Cromosomas Humanos Par 6 , Trisomía , Anomalías Múltiples/genética , Niño , Cromosomas Artificiales de Levadura , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Fenotipo
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