FIKElectricity: A Electricity Consumption Dataset from Three Restaurant Kitchens in Portugal.

Industrial Kitchens are very energy-intensive businesses, consuming between five and seven times more energy per square meter than other commercial spaces like office spaces and retail stores. Still, very little research has been carried out on improving the energy efficiency of this industry. This paper presents the FIKElectricity dataset, a collection of electricity data from three Portuguese restaurant kitchens during their daily operation. The duration of the datasets spans three to four weeks in each industrial kitchen and comprises aggregated and individual appliance consumption, collected at 1 Hz and [Formula: see text] Hz, respectively. The public release of FIKElectricity is expected to draw more attention from the research community to this overlooked industrial sector. The data collection and post-processing methods are thoroughly described in this paper, as well as the dataset organization. Examples showing the dataset's quality and instructions for its reuse are also provided.

Seasonal characterization of mercury contamination along the Portuguese coast: human health and environmental risk assessment.

A seasonal characterization of mercury (Hg) accumulation in three different estuaries along the Portuguese coast (i.e. Ria de Aveiro, Tagus estuary and Ria Formosa) was done. For that, it was evaluated: (1) Hg concentrations in abiotic (water) and biotic matrices (flora and fauna); (2) the risk of consumption of local seafood species (e.g. bivalves) to human health; and (3) the environmental risk to Hg exposure. During 1 year, water and biological samples were collected during low tide, in each system for Hg quantification. Our findings revealed that total Hg concentrations in surface waters were higher in Ria de Aveiro and Tagus estuary than in Ria Formosa. In Ria de Aveiro, a particular attention should be given in autumn periods, where Hg levels (≈ 100 µg L-1) were considered quite high according to European quality parameters. The same was observed for the Tagus estuary during spring time. Regarding macrofauna Hg levels, no clear seasonal trend was observed. Also, total Hg concentrations in edible species (< 0.5 µg. g-1 ww) represent no risk for consumption. However, considering the environmental risk, in Ria de Aveiro, there is a moderate risk (RQ > 0.1) in autumn periods, which can be a matter of concern.

Are Fish Populations at Risk? Metformin Disrupts Zebrafish Development and Reproductive Processes at Chronic Environmentally Relevant Concentrations.

The antidiabetic drug Metformin (MET), one of the most prevalent pharmaceuticals in the environment, is currently detected in surface waters in the range of ng/L to low µg/L. As current knowledge regarding the long-term effects of environmentally relevant concentrations of MET in nontarget organisms is limited, the present study aimed at investigating the generational effects of MET, in concentrations ranging from 390 to 14 423 ng/L in the model organism Danio rerio (up to 9 mpf), including the effects on its nonexposed offspring (until 60 dpf). We integrate several apical end points, i.e., embryonic development, survival, growth, and reproduction, with qRT-PCR and RNA-seq analyses to provide additional insights into the mode of action of MET. Reproductive-related parameters in the first generation were particularly sensitive to MET. MET parental exposure impacted critical molecular processes involved in the metabolism of zebrafish males, which in turn affected steroid hormone biosynthesis and upregulated male vtg1 expression by 99.78- to 155.47-fold at 390 and 14 432 MET treatment, respectively, pointing to an estrogenic effect. These findings can potentially explain the significant decrease in the fertilization rate and the increase of unactivated eggs. Nonexposed offspring was also affected by parental MET exposure, impacting its survival and growth. Altogether, these results suggest that MET, at environmentally relevant concentrations, severely affects several biological processes in zebrafish, supporting the urgent need to revise the proposed Predicted No-Effect Concentration (PNEC) and the Environmental Quality Standard (EQS) for MET.

Metformin disrupts Danio rerio metabolism at environmentally relevant concentrations: A full life-cycle study.

Metformin (MET), an anti-diabetic pharmaceutical of large-scale consumption, is increasingly detected in surface waters. However, current knowledge on the long-term effects of MET on non-target organisms is limited. The present study aimed to investigate the effects of MET in the model freshwater teleost Danio rerio, following a full life-cycle exposure to environmentally relevant concentrations (390 to 14 423 ng/L). Considering that the mode of action (MoA) of MET on non-target organisms remains underexplored and that MET may act through similar human pathways, i.e., lipid and energy metabolisms, biochemical markers were used to determine cholesterol and triglycerides levels, as well as mitochondrial complex I activity in zebrafish liver. Also, the hepatosomatic index as an indication of metabolic disruption, and the expression levels of genes involved in MET's putative MoA, i.e. acaca, acadm, cox5aa, idh3a, hmgcra, prkaa1, were determined, the last by qRT-PCR. A screening of mRNA transcripts, associated with lipid and energy metabolisms, and other signaling pathways potentially involved in MET-induced toxicity were also assessed using an exploratory RNA-seq analysis. The findings here reported indicate that MET significantly disrupted critical biochemical and molecular processes involved in zebrafish metabolism, such as cholesterol and fatty acid biosynthesis, mitochondrial electron transport chain and tricarboxylic acid cycle, concomitantly to changes on the hepatosomatic index. Likewise, MET impacted other relevant pathways mainly associated with cell cycle, DNA repair and steroid hormone biosynthesis, here reported for the first time in a non-target aquatic organism. Non-monotonic dose response curves were frequently detected in biochemical and qRT-PCR data, with higher effects observed at 390 and 2 929 ng/L MET treatments. Collectively, the results suggest that environmentally relevant concentrations of MET severely disrupt D. rerio metabolism and other important biological processes, supporting the need to revise the proposed environmental quality standard (EQS) and predicted no-effect concentration (PNEC) for MET.

Leprosy presenting as remitting seronegative symmetrical synovitis with pitting oedema syndrome - a case report.

BACKGROUND: Leprosy typically manifests with skin and peripheral nerve involvement. Musculoskeletal complaints are the third most common, and can be the sole presenting manifestation. They range from arthralgia/arthritis in reactional states to full mimics of systemic rheumatic diseases. Remitting Seronegative Symmetrical Synovitis with Pitting Oedema syndrome has only been described once in a patient with already diagnosed Leprosy. CASE REPORT: A 68-year-old male, from an endemic region of familial amyloid polyneuropathy, presented with an inaugural Remitting Seronegative Symmetrical Synovitis with Pitting Oedema like syndrome, more that 20 years after travelling to Leprosy endemic areas. Arthritis would resurface whenever oral prednisone was tapered, so methotrexate was started, controlling the complaints. Only one year later, after the appearance of peripheral neuropathy and skin lesions, it was possible to diagnose Leprosy, through the identification of Mycobacterium leprae bacilli in a peripheral nerve biopsy. CONCLUSION: This report is an example of the heterogeneity of manifestations of Leprosy, namely rheumatic, and the challenge of diagnosing it when typical complaints are absent. It is also a reminder that this disease should be considered whenever a patient with a combination of skin/neurologic/rheumatic complaints has travelled to endemic countries in the past.

Childhood Sexual Abuse in Adolescents Adjudicated for Sexual Offenses: Mental Health Consequences and Sexual Offending Behaviors.

Most studies on the mental health consequences of childhood sexual abuse (CSA) focus predominantly on CSA survivors who do not commit sexual offenses. The current study examined the effects of CSA on 498 male adolescents adjudicated for sexual offenses who represent the small portion of CSA survivors who engage in sexual offenses. The prevalence of internalizing symptoms, parental attachment difficulties, specific sexual offending behaviors, and risk for sexually offending were compared among participants with and without a history of CSA. Results indicated that participants with a history of CSA were more likely to be diagnosed with major depression and posttraumatic stress disorder than those who did not report a history of CSA. A history of CSA was also positively correlated with risk for sexually offending and with specific offense patterns and consensual sexual behaviors. No significant differences emerged on parental attachment difficulties. These results highlight that adolescents adjudicated for sexual offenses with a history of CSA present with differences in sexual and psychological functioning as well as markedly different offending patterns when compared with those without a CSA history. Clinical implications and future directions are discussed.

Exploring Neural Correlates of Empathy in Juveniles Who Have Sexually Offended.

To effectively address the needs of youth who perpetrate sexual violence and reduce rates of recidivism, a better understanding of the mechanisms of juvenile sexual offending is needed. Current literature identifies various factors that are believed to put youth at risk for sexual offending, two of which are empathy deficits and childhood sexual abuse (CSA). The extent to which empathy deficits contribute to juvenile sexual offending, however, is often debated, though studies have not yet explored a neurobehavioral model of this mechanism. This pilot study used functional magnetic resonance imaging (fMRI) to explore the neural correlates of empathy in juveniles who sexually offend (JSOs), and the possible role of CSA. A total of 38 males (ages 12-20) were enrolled, including 11 healthy control subjects and 27 JSOs, of which, 11 had a history of CSA. Participants underwent clinical assessment and completed an empathy task during fMRI. Using both whole-brain and region-of-interest analysis, results of the fMRI data showed no statistical differences in engagement of brain regions associated with empathy between controls and all JSOs. There were also no significant differences between JSOs with and without a history of CSA. These null findings pose implications for guiding future research studies with larger samples and more statistical power, and may support the need to further explore empathy-related explanatory models and interventions for JSOs. Neuroimaging may demonstrate to be a useful tool to identify individualized risk factors and aid in tailoring interventions for this population.

The Effects of Polyvictimization and Quality of Caregiver Attachment on Disclosure of Illegal Sexual Behavior.

The current study examined the relationship among self-disclosure of illegal sexual behaviors and two conceptually relevant constructs in psychotherapy: childhood polyvictimization (i.e., cumulative types of victimization experienced during childhood) and caregiver attachment. Participants consisted of 63 adolescent males participating in mandated treatment for illegal sexual behavior. Childhood polyvictimization and caregiver attachment were expected to predict self-disclosure of illegal sexual behaviors. Quality of caregiver attachment was also expected to mediate the relationship between polyvictimization and disclosure. Consistent with our main hypothesis, results indicate that quality of caregiver attachment mediated the relationship between childhood polyvictimization and self-disclosure of illegal sexual behaviors in psychotherapy. The current findings highlight the impact of polyvictimization on important therapeutic processes as well as the importance of assessing for multiple types of victimization in adolescents who engage in illegal sexual behavior. Further clinical implications regarding the use of trauma-informed approaches during sex offender treatment are discussed.

Mechanical Thrombectomy in Acute Ischemic Stroke: Initial Single-Center Experience and Comparison with Randomized Controlled Trials.

BACKGROUND: Until recently, intravenous thrombolysis was the only reperfusion therapy with proven efficacy in patients with acute ischemic stroke. However, this treatment option has low recanalization rates in large-vessel occlusions. The search for additional treatments continued until 5 randomized trials (MR CLEAN, ESCAPE, EXTEND-IA, SWIFT PRIME, and REVASCAT) revealed the superiority of mechanical thrombectomy for anterior circulation large-vessel occlusion. After 1 year of performing thrombectomy with stent retrievers in our tertiary hospital, we intended to answer the question: is it possible to achieve similar results in a "real-world" setting? METHODS: We analyzed data from our prospective observational registry, compared it with the trials aforementioned, and concluded that the answer is affirmative. RESULTS: Our study population of 77 patients, with a mean age of 68,2 years and 48,1% men, is comparable with these trials in much of selection criteria, baseline characteristics, and rate of previous intravenous thrombolysis (72,7%). Recovery of functional independence at 90 days was achieved in almost two thirds of patients, similarly to the referred trials. We devoted special emphasis on fast recanalization, keeping a simple image selection protocol (based on non-enhanced and computed tomography angiography) and not waiting for clinical response to thrombolysis in patients eligible for mechanical thrombectomy. We emphasize a successful recanalization rate of 87% and only 2,6% symptomatic intracranial hemorrhage. CONCLUSION: In summary, mechanical thrombectomy seems to be a safe and effective treatment option in a "real-world" scenario, with results similar to those of the recent randomized controlled trials.

Sensory-motor axonal polyneuropathy involving cranial nerves: An uncommon manifestation of disulfiram toxicity.

Disulfiram (tetraethylthiuram disulfide) has been used for the treatment of alcohol dependence. An axonal sensory-motor polyneuropathy with involvement of cranial pairs due to disulfiram is exceedingly rare. The authors report a unique case of an extremely severe axonal polyneuropathy involving cranial nerves that developed within weeks after a regular dosage of 500mg/day disulfiram. To the authors best knowledge, such a severe and rapidly-progressive course has never been described with disulfiram dosages of only 500mg/day.

Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases.

INTRODUCTION: In this study we estimated the prevalence, incidence, and mortality of myasthenia gravis (MG) in northern Portugal and characterized the clinical features of the patients identified. METHODS: We used 2 data sources: clinical records from the hospitals and pyridostigmine prescription registers. RESULTS: On December 31, 2013, we estimated a point prevalence of 111.7 patients per million population. The highest prevalence was observed in the group >65 years of age, especially in men (288.1 per million). During 2013, we estimated an incidence rate of 6.3 per million per year. Among women, the incidence rate was highest in the 15-49-year age group; in men, incidence increased with age up to 22.1 per million in those >65 years old. The MG-related mortality rate was 0.5 per million. CONCLUSIONS: These figures are in keeping with similar studies and emphasize the importance of diagnosis and management of MG in elderly populations. Muscle Nerve 54: 413-421, 2016.

Chronic Cluster Headache with an Atypical Presentation and Treatment Response.

The management of cluster headache (CH) may be challenging. We report a 50-year-old male with recurrent attacks of dull and severe unilateral periorbital pain, lasting 30-45 minutes, twice a day, exclusively during sleep, and accompanied by ipsilateral rhinorrhea and lacrimation. The pain switched sides within every attack. CH treatment was initiated but the patient maintained recurrence rates compatible with chronic CH, even after increasing verapamil to 460 mg/day. Afterwards we decided to add lithium (800 mg/day). With this treatment the severity and recurrence of CH substantially decreased, despite the patient's autonomous decision to take lithium only during the acute phase of the cluster. The exclusively alternating location and the excellent response to short cycles of lithium represent two unique features of CH.

Adaptive Portfolio Optimization for Multiple Electricity Markets Participation.

The increase of distributed energy resources, mainly based on renewable sources, requires new solutions that are able to deal with this type of resources' particular characteristics (namely, the renewable energy sources intermittent nature). The smart grid concept is increasing its consensus as the most suitable solution to facilitate the small players' participation in electric power negotiations while improving energy efficiency. The opportunity for players' participation in multiple energy negotiation environments (smart grid negotiation in addition to the already implemented market types, such as day-ahead spot markets, balancing markets, intraday negotiations, bilateral contracts, forward and futures negotiations, and among other) requires players to take suitable decisions on whether to, and how to participate in each market type. This paper proposes a portfolio optimization methodology, which provides the best investment profile for a market player, considering different market opportunities. The amount of power that each supported player should negotiate in each available market type in order to maximize its profits, considers the prices that are expected to be achieved in each market, in different contexts. The price forecasts are performed using artificial neural networks, providing a specific database with the expected prices in the different market types, at each time. This database is then used as input by an evolutionary particle swarm optimization process, which originates the most advantage participation portfolio for the market player. The proposed approach is tested and validated with simulations performed in multiagent simulator of competitive electricity markets, using real electricity markets data from the Iberian operator-MIBEL.

The Neuropsychology of Adolescent Sexual Offending: Testing an Executive Dysfunction Hypothesis.

Although executive dysfunctions are commonly hypothesized to contribute to sexual deviance or aggression, evidence of this relationship is scarce and its specificity is unproven, especially among adolescents. The objective of this study was to compare the executive functioning (EF) of adolescents with sexual offense convictions (ASOC) to that of non-sex-delinquents (NSD). A secondary goal was to assess the relationship among specific sexual offense characteristics (i.e., victim age), history of childhood sexual abuse (CSA), and EF. It was hypothesized that as a group, ASOC would present similar EF profiles as NSD. It was further hypothesized that ASOC with child victims would present significantly higher rates of CSA and more severe impairment of EF than ASOC with peer-aged or older victims and NSD. A total of 183 male adolescents (127 ASOC and 56 NSD) were interviewed to collect demographic information, sexual development history, history of CSA, an assessment of living conditions, and history of delinquency and sexual offending. Participants were administered the Delis-Kaplan Executive Functioning System and the Hare Psychopathy Checklist-Youth Version. In accord with the first hypothesis, ASOC and NSD presented similar EF scores, well below normative values. Thus, EF deficits may not characterize the profiles of adolescents with sexual behavior problems. Contrarily to our second hypothesis, however, offending against children and or experiencing CSA were not associated with poorer EF performance. On the contrary, ASOC with child victims obtained significantly higher scores on measures of higher order EF than both ASOC with peer-aged or older victims and NSD. Implications of these results and future directions are discussed.

Influência do manejo pré-abate de bovinos na indústria sobre os parâmetros de bem-estar animal e impactos no ph 24 horas post mortem / Influence of handling pre-slaughter cattle industry on the parameters of animal welfare and impacts on ph 24 hours post mortem

Avaliou-se o manejo pré-abate de 320 fêmeas bovinas, divididas em oito lotes de 40 animais, de acordo com a procedência, hígidas e azebuadas com idade entre 2 a 4 anos, provenientes de oito propriedades do Triângulo Mineiro­MG, as quais foram abatidas em um matadouro frigorífico localizado nessa mesma região. Relacionaram-se nesse manejo, parâmetros de bem-estar animal e seus efeitos no atordoamento, sangria e pH 24 horas. Analisou-se a condução dos animais no matadouro frigorífico, desde os currais até o boxe de atordoamento, insensibilização dos bovinos e monitoramento do tempo até a sangria, a eficiência do atordoamento e a mensuração do pH das carcaças após 24 horas do abate. Ao considerar cada lote de 40 animais, os escorregões e as quedas variaram de 0 (0%) a 2 (5%), e vocalizações de 0 (0%) a 10 (25%), contabilizadas durante a condução dos bovinos. O menor valor do uso do bastão elétrico por lote de 40 animais foi de 23 (57,5%) e o maior de 40 (100%), o que reflete a falta de um manejo adequado nesta fase. Os bovinos avaliados após o atordoamento e adequadamente insensibilizados estiveram entre 31 a 40 animais (77,5% a 100%) por lote. A insensibilização com um disparo oscilou de 29 a 36 animais (72,5% a 90%), com exceção de um lote, cujo atordoamento não foi eficiente por defeito no equipamento no dia de avaliação e todos os animais receberam mais de um disparo. O intervalo entre o atordoamento e a sangria não variou (P> 0,05), mantendo-se dentro de um minuto. O tempo de sangria variou entre lotes (P<0,05), porém dentro do tempo mínimo preconizado (3 minutos), exceto um lote que obteve menor tempo (2,54 minutos). Os valores médios de pH 24 horas post mortem em um lote ficou dentro do ideal que é de até 5,8; seis lotes ficaram entre 5,81 a 5,99, considerados intermediários em relação ao pH ideal. Em um lote, os valores médios para as carcaças dos bovinos estiveram acima de 6,0; avaliada como parâmetro indesejável. O manejo pré-abate no matadouro frigorífico influencia nos parâmetros de bem-estar animal, pois irregularidade de manutenção de equipamentos e instalações, mão de obra não qualificada e supervisão ineficiente provocam falhas nos processos de atordoamento, sangria e pH 24 horas, com perda da qualidade da carne.

It was evaluated the pre-slaughter handling of 320 healthy and crossbred (zebu) cows, divided into eight groups of 40 animals, according to their origin, aged 2-4 years, coming from eight properties of Triângulo Mineiro - Minas Gerais, which were slaughtered in a slaughterhouse placed at the same region. It was related, in this handling, parameters of animal welfare and its effects on the stunning, bleeding and 24 hours pH. It was analyzed the leading of the animals in the slaughterhouse, from the pens until the stunning cabinet, the stunning of the cattle and the control of the time until the bleeding, the efficiency of the stunning and the measurement of pH of carcasses after 24 hours of slaughter. Considering each group of 40 animals, the slips and the falls varied from 0 (0%) to 2 (5%), and vocalizations from 0 (0%) to 10 (25%), numbered during the leading of the cattle. The smallest amount of the use of the electric stick per group of 40 animals was 23 (57.5%) and the biggest one was 40 (100%), which reflects the lack of an appropriate handling at this stage. The evaluated cattle, after stunning and properly numb, were among 31 to 40 animals (77.5% to 100%) per group. The stunning with one shot ranged from 29 to 36 animals (72.5% to 90%), except for one group, whose stunning was not efficient for defect in the equipment at the evaluation day and all the animals received more than one shot. The interval between stunning and bleeding did not vary (P>0.05) keeping within one minute. The bleeding time varied among groups (P<0.05), but within the recommended minimum time (3 minutes), except for one group that got less time (2.54 minutes). The averages amounts of 24 hours pH post mortem in one group kept in the recommended which is until 5,8; six groups kept among 5,81 a 5,99, considered intermediates in relation to the recommended pH. In one group, the average amounts to the carcasses of the cattle were more than 6,0; evaluated as undesired parameter, with marks the (5.81 to 5.99), one group had medium marks above 6.0. The pre-slaughter handling in the slaughterhouse influences the parameters of animal welfare, because irregular maintenance of equipment and facilities, unqualified workmanship and inefficient supervision cause failures in the processes of stunning, bleeding and 24 hours pH, with loss of meat quality.

Isolated oculomotor nerve palsy: a rare manifestation of internal carotid artery dissection.

A 58-year-old man reported sudden-onset binocular double vision that appeared 3 days earlier. He denied history of headache/cervical pain or trauma. He had a medical history of well-controlled diabetes, hypertension and dyslipidaemia. Neurological examination revealed a left-sided ptosis and binocular horizontal diplopia in dextroversion without apparent extraocular-muscle paresis or pupillary involvement. Other cranial nerves were spared as well as motor, sensory and coordination systems. There were no signs of ocular erythema, proptosis or palpable orbital mass. Brain MR angiography revealed a crescent-shaped mural hyperintensity in left internal carotid artery (ICA) at skull base, extending to intrapetrous segment, with reduced calibre and flow, suggesting a left ICA dissection. The patient was started on antiaggregation therapy. A year later he was asymptomatic and CT angiography confirmed ICA recanalisation.

Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux.

UNLABELLED: In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. OBJECTIVE: To study a new Portuguese family with these characteristics. METHOD: To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. RESULTS: Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feet and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. DISCUSSION: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.

Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux / Caracterização clínica e neurofisiológica de uma família europeia com neuropatia sensitiva hereditária, tosse paroxística e refluxo gastroesofágico

In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. Objective: To study a new Portuguese family with these characteristics. Method: To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Results: Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Discussion: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect. .

Em 2002, Spring et al descreveram uma família com uma combinação de polineuropatia sensitiva hereditária, doença do refluxo gastroesofágico e tosse paroxística. Desde então não foram descritos outros casos. Objectivo: Estudar uma nova família portuguesa com essas características. Método: Caracterização clínica e neurofisiológica de uma família com a referida combinação de patologias. Resultados: Três, de cinco irmãos, apresentam uma história semelhante de tosse paroxística com início na 5a década. Cerca de uma década mais tarde iniciam quadro de parestesias em ambos os pés, com evidência de neuropatia sensitiva axonal. Todos os casos apresentam também uma história de doença do refluxo gastroesofágico de gravidade variável. Discussão: Nos últimos anos, os estudos de genética molecular permitiram evidenciar a heterogeneidade genética dos vários subtipos de polineuropatia sensitiva hereditária tipo 1. A identificação das famílias afectadas reveste-se de grande importância, nomeadamente na tentativa de caracterização da alteração genética deste subtipo. .