Five Year Post-Endovascular Aneurysm Repair Aneurysm Sac Evolution in the GREAT Registry: an Insight in Diabetics Using Propensity Matched Controls.

OBJECTIVE: To assess differences in the five year abdominal aortic aneurysm (AAA) sac regression rate after endovascular aneurysm repair (EVAR) in patients with and without diabetes mellitus (DM). METHODS: An international prospective registry (Europe, USA, Brazil, Australia, and New Zealand) of patients treated with the GORE EXCLUDER endograft. All scheduled EVARs for infrarenal AAA between 2014 and 2016 with complete five year imaging follow up were included. Emergency procedures, ancillary proximal procedures, and inflammatory and infectious aetiologies were excluded. Descriptive and inferential statistics, and Cox proportional hazards survival models were used. A control group of patients without DM with similar age and comorbidities was selected using propensity scores, matched in a 1:2 scheme. RESULTS: A total of 2 888 patients (86.1% male; mean age 73.5 ± 8 years) was included, of whom 545 (18.9%) had DM. Patients with DM had higher rates of hypertension (89.2% vs. 78.4%), dyslipidaemia (76.0% vs. 60.7%), coronary artery disease (52.3% vs. 37.9%), and chronic renal impairment (20.9% vs. 14.0%) (all p < .001). The mean pre-procedural AAA diameter was 58.1 ± 10 mm. Five years post-EVAR, the type 1A endoleak rate was 1.1% (0.6% DM vs. 1.2% non-DM), the endograft related re-intervention rate was 7.3% (6.2% vs. 7.6%), the major adverse cardiovascular event (MACE) rate was 1.4% (1.1% vs. 1.5%), and aortic related mortality rate was 1.0% (0.6% vs. 1.2%), without statistically significant differences between groups. The overall five year mortality rate was higher in diabetics (36.3% vs. 30.5%; hazard ratio [HR] 1.30, 95% confidence interval [CI] 1.07 - 1.58; p = .001). No statistically significant differences were found in sac regression rate (≥ 5 mm) between diabetics and non-diabetics 70.0% vs. 73.1%; HR 0.88, 95% CI 0.75-1.04; p = .131. These differences remained statistically non-significant after excluding patients performed out of instructions for use (p = .61) and patients with types 1, 2 or 3 endoleaks (p = .39). CONCLUSION: The paradoxical relationship between DM and AAA does not appear to result in differences in post-EVAR sac regression rates. However, even when controlling for other comorbidities, patients with DM undergoing EVAR may have a higher five year mortality rate.

Omicron - The new SARS-CoV-2 challenge?

SARS-CoV-2 virus has infected nearly 300 M people worldwide and has been associated with over 6 M deaths by March 2022. Since the virus emergence in December 2019 in Wuhan, several new mutations have been described. The World Health Organization has developed a working name for these emerging variants according to their impact on the worldwide population. In this context a high alert has been paid to variants of concern (VOC) due to their high infectiousness and transmissibility patterns. The most recent VOC, Omicron (B.1.1.529), has become dominant in the shortest time ever and has placed Europe under an overwhelming and unprecedented number of new cases. This variant has numerous mutations in regions that are associated with higher transmissibility, stronger viral binding, affinity and antibody escape. Moreover, the mutations and deletions present in the spike protein suggest that the SARS-CoV-2 specific attachment inhibitors may not be the best option for Omicron therapy. Omicron is the dominant variant circulating worldwide and, at the end of February 2022, it was responsible for nearly all sequences reported to GISAID. Omicron is made up of several sublineages, where the most common are BA.1 and BA.2 (or Nextstrain clade 21K and 21L, respectively). At a global level, it is possible to say that the proportion of BA.2 has been increasing relative to BA.1 and in some countries it has been replacing it at high rates. In order to better assess the Omicron effectiveness on antibody escape, spread and infectious ability it is of the highest relevance to maintain a worldwide tight surveillance. Even though this variant has been associated with a lower death rate, it is important to highlight that the number of people becoming infected is concerning and that further unpredictable mutations may emerge as the number of infected people rises.

The effects of high-severity fires on the arboreal ant community of a Neotropical savanna.

Fire-suppression is of concern in fire-prone ecosystems because it can result in the loss of endemic species. Suppressing fires also causes a build-up of flammable biomass, increasing the risk of severe fires. Using a Before-After, Control-Impacted design, we assessed the consequences of high-severity fires on Neotropical savanna arboreal ant communities. Over a 9-year period, we sampled the ant fauna of the same trees before and after two severe fires that hit a savanna reserve in Brazil and the trees from an unburned savanna site that served as a temporal control. The ant community associated with the unburned trees was relatively stable, with no significant temporal variation in species richness and only a few species changing in abundance over time. In contrast, we found a strong decline in species richness and marked changes in species composition in the burned trees, with some species becoming more prevalent and many becoming rare or locally extinct. The dissimilarity in species richness and composition was significantly smaller between the two pre-fire surveys than between the pre- and post-fire surveys. Fire-induced changes were much more marked among species with strictly arboreal nesting habits, and therefore more susceptible to the direct effects of fire. The decline of some of the ecologically dominant arboreal ant species may be particularly important, as it opens substantial ecological space for cascading community-wide changes. In particular, severe fires appear to disrupt the typical vertical stratification between the arboreal and ground-dwelling faunas, which might lead to homogenization of the overall ant community.

National Diagnostic Reference Levels for Endovascular Aneurysm Repair and Optimisation Strategies.

OBJECTIVE: The International Commission on Radiological Protection (ICRP) has highlighted the large number of medical specialties using fluoroscopy outside imaging departments without programmes of radiation protection (RP) for patients and staff. Vascular surgery is one of these specialties and endovascular aneurysm repair (EVAR) is one of the most challenging procedures requiring RP guidance and optimisation actions. The recent European Directive on Basic Safety Standards requires the use and regular update of diagnostic reference levels (DRL) for interventional procedures. The objective of the study was to know the doses of patients undergoing EVAR with mobile Xray systems and with hybrid rooms (fixed Xray systems), to obtain national DRLs and suggest optimisation actions. METHODS: The Spanish Chapter of Endovascular Surgery launched a national survey that involved hospitals for 10 autonomous communities representing the 77% of the Spanish population (46.7 million inhabitants). Patient dose values from mobile Xray systems were available from nine hospitals (sample of 165 EVAR procedures) and data from hybrid rooms, from seven hospitals, with dosimetric data from 123 procedures. The initial national DRLs have been obtained, as the third quartile of the median values from the different centres involved in the survey. RESULTS: The proposed national DRLs are 278 Gy cm2 for hybrid rooms and 87 Gy cm2 for mobile Xray systems, and for cumulative air kerma (cumulative AK) at the patient entrance reference point, 1403 mGy for hybrid rooms, and 292 mGy for mobile systems. CONCLUSION: An audit of patient doses for EVAR procedures to identify optimised imaging protocol strategies is needed. It is also appropriate to evaluate the diagnostic information required for EVAR procedures. The increase by a factor of 3.2 (for kerma area product) and 4.8 (for cumulative AK) in the DRLs needs to be justified when the procedures are performed in the hybrid rooms rather than with mobile Xray systems.

"Lower limbs revascularization from supraceliac and thoracic aorta".

Revascularization of femoral arteries from descending thoracic or supraceliac aorta is an uncommon procedure, in part because of the popularization of the technically easier extra-anatomic bypasses. However, using those aortic levels as the source of the bypass inflow is a useful alternative in selected patients with aortoiliac disease, with excellent results. We report long-term results in 4 patients with revascularization from thoracic aorta and another 2 cases from aorta at supraceliac level. This technique should be considered as a good alternative in patients with adverse abdominal conditions or with a severely diseased infrarenal aorta due to heavy calcification.

The corrosion resistance of Wiron(®)88 in the presence of S. mutans and S. sobrinus bacteria.

The corrosion resistance of Wiron(®)88, a Ni-Cr-Mo alloy, was evaluated in liquid growth media in the absence and presence of the Streptococcus sobrinus and Streptococcus mutans strains. Open circuit potential measurements, cyclic voltammetry, linear sweep voltammetry, as well as electronic microscopy coupled to electron diffraction spectroscopy (SEM/EDS), were the main techniques used in this study. It was concluded that the presence of S. sobrinus and S. mutans have only a slight effect on the corrosion resistance of the Wiron(®)88 alloy, with the S. mutans being slightly more aggressive. For both strains the corrosion resistance R p is of the same order (kΩ cm(2)). After 24 h immersion the S. sobrinus lead to and R p of 11.02, while the S. mutans lead to of 5.59 kΩ cm(2). SEM/EDS studies on the Wiron(®)88 samples, with 24 days of immersion, at 37 °C, have confirmed bio-corrosion of the alloy occurring through the dissolution of Ni as Ni(2+) and formation of chromium and molybdenum oxides. The bacterial adhesion to the surface is not uniform.

[Therapeutic patient education in respiratory rehabilitation]. / Éducation thérapeutique du patient au cours de la réadaptation respiratoire.

INTRODUCTION: Therapeutic patient education (TPE) is an essential component of pulmonary readaptation in chronic respiratory diseases. Numerous and varied patient education projects offer heterogeneous contents and methods, which render them difficult to analyze and to compare. The objective of this review was to provide perspective on the main principles of patient education, using a non-exhaustive approach. STATE OF KNOWLEDGE: This review is focused on patient education using a patient-centered approach, physician-patient partnership and self-management, which are presented at once pragmatically and conceptually. One of the main objectives of TPE is the acquisition of self-management skills by patients with a chronic disease, which will be considered from a clinical standpoint. Lastly, TPE will be assessed in the overall framework of patient-centered pulmonary readaptation. PERSPECTIVES: TPE needs to be structured in view of assessing its effects. It is consequently essential for caregivers to receive continuous training so as to more clearly understand the methods employed, the objective being to build evaluable contents contributing to performance of multicentric trials. CONCLUSION: Current literature on TPE emphasizes the extent to which the patient remains the central actor in his or her care pathway. If patients are called upon to modify their behaviors, it is equally necessary that caregivers proceed likewise, adopting postures favoring the acquisition and appropriation by the patient of skills that shall be required as he or she learns to live with chronic disease.

Dopamine depletion in wistar rats with epilepsy.

The dopamine content in cerebral structures has been related to neuronal excitability and several approaches have been used to study this phenomenon during seizure vulnerability period. In the present work, we describe the effects of dopamine depletion after the administration of 6-hidroxidopamine (6-OHDA) into the substantia nigra pars compacta of male rats submitted to the pilocarpine model of epilepsy. Susceptibility to pilocarpine-induced status epilepticus (SE), as well as spontaneous and recurrent seizures (SRSs) frequency during the chronic period of the model were determined. Since the hippocampus is one of main structures in the development of this experimental model of epilepsy, the dopamine levels in this region were also determined after drug administration. In the first experiment, 62% (15/24) of 6-OHDA pre-treated rats and 45% (11/24) of those receiving ascorbic acid as control solution progressed to motor limbic seizures evolving to SE, after the administration of pilocarpine. Severeness of seizures during the model´s the acute period, was significantly higher in epileptic experimental rats (56.52%), than in controls (4.16%). In the second experiment, the frequency of seizures in the model's chronic phase did not significantly change between groups. Our data show that dopamine may play an important role on seizure severity in the pilo's model acute period, which seems to be due to dopamine inhibitory action on motor expression of seizure.

[Which physical tests for which objectives in pulmonary rehabilitation?] / Quels tests physiques pour quels objectifs en réadaptation respiratoire ?

Chronic respiratory disease is a major cause of morbidity and mortality worldwide and an important cause of disability including a reduction of exercise, functional and muscle capacity contributing to a decreased quality of life. In the context of pulmonary rehabilitation, a thorough patient-centered outcome assessment, including not only measures of lung function, but also exercise functional and muscle capacity, is imperative for a comprehensive disease management. Assessment of these impairments and dysfunctions with appropriate and change-sensitive procedures is thus necessary for personalizing the physical interventions and assessing the short- and long-term effectiveness of the intervention. The clinician currently has a wide variety of tests and measurements available to assess the physical and functional capacity of people with chronic respiratory disease. The aim of this review is to provide a pragmatic synthesis of the physical, functional and muscle capacity tests most commonly used in pulmonary rehabilitation. Ultimately, it should help the clinician to identify the relevant evaluations according to the objectives of the patients but also according to the available resources, the setting of pulmonary rehabilitation and the specific qualities of each test.

In Silico-Based Design and In Vivo Evaluation of an Anthranilic Acid Derivative as a Multitarget Drug in a Diet-Induced Metabolic Syndrome Model.

Metabolic syndrome (MetS) is a complex disease that affects almost a quarter of the world's adult population. In MetS, diabetes, obesity, hyperglycemia, high cholesterol, and high blood pressure are the most common disorders. Polypharmacy is the most used strategy for managing conditions related to MetS, but it has drawbacks such as low medication adherence. Multitarget ligands have been proposed as an interesting approach to developing drugs to treat complex diseases. However, suitable preclinical models that allow their evaluation in a context closer to a clinical situation of a complex disease are needed. From molecular docking studies, compound 1b, a 5-aminoanthranilic acid derivative substituted with 4'-trifluoromethylbenzylamino and 3',4'-dimethoxybenzamide moieties, was identified as a potential multitarget drug, as it showed high in silico affinity against targets related to MetS, including PPAR-α, PPAR-γ, and HMG-CoA reductase. It was evaluated in a diet-induced MetS rat model and simultaneously lowered blood pressure, glucose, total cholesterol, and triglyceride levels after a 14-day treatment. No toxicity events were observed during an acute lethal dose evaluation test at 1500 mg/kg. Hence, the diet-induced MetS model is suitable for evaluating treatments for MetS, and compound 1b is an attractive starting point for developing multitarget drugs.

Recurrent neuromyelitis optica in Brazilian patients: clinical, immunological, and neuroimaging characteristics.

Neuromyelitis optica has not been thoroughly studied in Brazilian patients following the discovery of NMO-IgG and its specific antigen aquaporin-4. In this study we aimed to describe the clinical NMO-IgG immunological status and neuroimaging characteristics of recurrent neuromyelitis optica in a series Brazilian patients. We undertook a retrospective study of 28 patients with recurrent neuromyelitis optica, according to 1999 Wingerchuk's diagnostic criteria. Data on NMO-IgG status, clinical features, and MRI findings were analyzed. Three men and 25 women were evaluated. Median age at onset of disease was 26 years (range 7-55); median time of follow-up was 7 years (range 2-14). The mean time elapsed between the first and the second attack was 17 months (median 8.5; range 2-88). NMO-IgG was detected in 18 patients (64.3%). Four patients died due to respiratory failure. Most patients presented with cervical (36%) and cervical-thoracic myelitis (46.4%). Holocord lesion was the most common pattern of involvement (50%) on the axial plane. We did not find a statistical association between myelitis extension and NMO-IgG result. Our series of Brazilian patients showed a younger age of onset than previously reported. In our series, in contrast to previous reports, there was no correlation between the extension of myelitis and NMO-IgG positivity.

Total and methyl mercury distribution in water, sediment, plankton and fish along the Tapajós River basin in the Brazilian Amazon.

Mercury (Hg) is known as one of the major contaminants in the Amazon. The Tapajós River basin, in the Brazilian Amazon, has diverse anthropogenic activities which increase Hg concentrations in the aquatic ecosystem. Moreover, high concentrations of Hg are naturally found in this basin. Distribution of total (THg) and methyl (MeHg) mercury were assessed in unfiltered water (n = 47), suspended particulate matter (SPM, n = 30), superficial sediment (BS, n = 29), plankton (n = 28) and fishes (n = 129) from the Tapajós River basin. Suspended particles were the main carrier of Hg in the water column and sediment. Increased erosion, prompted by anthropic activities, led to higher Hg concentrations in water from the most impacted areas. Hg is transported mainly in particulate matter; thus, anthropic disturbances influence Hg concentrations downstream. Limnological parameters such as organic matter content influenced MeHg concentrations in water, plankton and sediment of the Tapajós basin. Hg methylation in total plankton was more efficient in lakes (13-66%) than in Tapajós River main channel (2-14%). Biotic and abiotic factors interact in a complex way in the aquatic ecosystem, making Hg concentrations to vary in food web. Gold mining and deforestation probably increase Hg levels in the Tapajós basin. Thus, in addition to Hg monitoring, prevention and remediation efforts should be focused on soil and sediment erosion control.

Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation.

BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathy (HSAN) type V is a very rare disorder. It is characterized by the absence of thermal and mechanical pain perception caused by decreased number of small diameter neurons in peripheral nerves. Recent genetic studies have pointed out the aetiological role of nerve growth factor beta, which is also involved in the development of the autonomic nervous system and cholinergic pathways in the brain. HSAN type V is usually reported not to cause mental retardation or cognitive decline. However, a structured assessment of the cognitive profile of these patients has never been made. METHODS AND RESULTS: We performed a throughout evaluation of four HSAN type V patients and compared their performance with 37 normal individuals. Our patients showed no cognitive deficits, not even mild ones. DISCUSSION AND CONCLUSIONS: Although newer mutations on this and related disorders are continuously described, their clinical characterization has been restricted to the peripheral aspects of these conditions. A broader characterization of this rare disorder may contribute to better understand the mechanisms of the nociceptive and cognitive aspects of pain.

Mercury and selenium in fishes from the Tapajós River in the Brazilian Amazon: An evaluation of human exposure.

This work aimed to evaluate associated risks of fish consumption to human health, concerning mercury (Hg) and selenium (Se) concentrations in fish species largely consumed in the Tapajós River basin in the Brazilian Amazon. Total mercury (THg), methylmercury (MeHg) and Se concentrations were measured in 129 fish specimens from four sites of the Tapajós River basin. Estimated daily intake (EDI) of Hg and Se were reported regarding fish consumption. EDI were compared with the reference value of provisional tolerable daily intake proposed by the World Health Organization (WHO). Se:Hg ratios and selenium health benefit values (Se HBVs) seem to offer a more comprehensive fish safety model. THg concentrations in fishes ranged from 0.03 to 1.51 µg g-1 of wet weight (w.w.) and MeHg concentrations ranged from 0.02 to 1.44 µg g-1 (w.w.). 80% of the samples were below the value of Hg recommended by the WHO for human consumption (0.5 µg g-1 w.w.). However, Hg EDI exceeded the dose suggested by the United States Environmental Protection Agency (0.1 µg kg-1 day-1), due to the large level of fish consumption in that area. Se concentrations in fishes ranged from 0.02 to 0.44 µg g-1 w.w. An inverse pattern was observed between Hg and Se concentrations in the trophic chain (highest levels of Se in the lowest trophic levels). The molar ratio Se:Hg and Se HBVs were higher in iliophagous and herbivorous fishes, which is noteworthy to reduce toxic effects of Hg contamination. For planktivores, the content of Se and Hg was almost equimolar. Carnivorous fishes - with the exception of Hemisorubim platyrhynchos and Pseudoplatystoma fasciatum -, showed Se:Hg ratios <1. Thus, they do not act as a favorable source of Se in the diet. Therefore, reduced intake of carnivorous fishes with preferential consumption of iliophages, herbivores and, to some extent, even planktivores should be promoted as part of a healthier diet.

Secreted protein extract analyses present the plant pathogen Alternaria alternata as a suitable industrial enzyme toolbox.

Lignocellulosic plant biomass is the most abundant carbon source in the planet, which makes it a potential substrate for biorefinery. It consists of polysaccharides and other molecules with applications in pharmaceutical, food and feed, cosmetics, paper and textile industries. The exploitation of these resources requires the hydrolysis of the plant cell wall, which is a complex process. Aiming to discover novel fungal natural isolates with lignocellulolytic capacities, a screening for feruloyl esterase activity was performed in samples taken from different metal surfaces. An extracellular enzyme extract from the most promising candidate, the natural isolate Alternaria alternata PDA1, was analyzed. The feruloyl esterase activity of the enzyme extract was characterized, determining the pH and temperature optima (pH 5.0 and 55-60 °C, respectively), thermal stability and kinetic parameters, among others. Proteomic analyses derived from two-dimensional gels allowed the identification and classification of 97 protein spots from the extracellular proteome. Most of the identified proteins belonged to the carbohydrates metabolism group, particularly plant cell wall degradation. Enzymatic activities of the identified proteins (ß-glucosidase, cellobiohydrolase, endoglucanase, ß-xylosidase and xylanase) of the extract were also measured. These findings confirm A. alternata PDA1 as a promising lignocellulolytic enzyme producer. SIGNIFICANCE: Although plant biomass is an abundant material that can be potentially utilized by several industries, the effective hydrolysis of the recalcitrant plant cell wall is not a straightforward process. As this hydrolysis occurs in nature relying almost solely on microbial enzymatic systems, it is reasonable to infer that further studies on lignocellulolytic enzymes will discover new sustainable industrial solutions. The results included in this paper provide a promising fungal candidate for biotechnological processes to obtain added value from plant byproducts and analogous substrates. Moreover, the proteomic analysis of the secretome of a natural isolate of Alternaria sp. grown in the presence of one of the most used vegetal substrates on the biofuels industry (sugar beet pulp) sheds light on the extracellular enzymatic machinery of this fungal plant pathogen, and can be potentially applied to developing new industrial enzymatic tools. This work is, to our knowledge, the first to analyze in depth the secreted enzyme extract of the plant pathogen Alternaria when grown on a lignocellulosic substrate, identifying its proteins by means of MALDI-TOF/TOF mass spectrometry and characterizing its feruloyl esterase, cellulase and xylanolytic activities.

Metal bioaccumulation in consumed marine bivalves in Southeast Brazilian coast.

This work aimed to investigate metal bioaccumulation by mussels (Perna perna) and Lion's Scallop (Nodipecten nodosus) farmed in tropical bays, in order to estimate spatial and temporal variation in the exposure to these elements, as well as human health risk. The concentration of each measured element was considered for this evaluation, using maximum residue level (MRL) in foods established by the Brazilian (ANVISA), American (USFDA) and European Communities (EC) legislations. Values for estimated daily ingestion (EDI) were determined for metals intake through mussel and scallop consumption. These estimates were compared with the reference value of (PTDI) proposed by World Health Organization (WHO). Trace elements concentration was measured on ninety mussels P. perna (tissue) and ninety Lion's Scallop N. nodosus (muscle and gonad) reared in four different tropical areas of the Southeast Brazilian coast, between 2009 and 2010. Zinc (Zn), Iron (Fe), Copper (Cu), Manganese (Mn), Chrome (Cr), Nickel (Ni), Cadmium (Cd) and Lead (Pb) concentrations were measured by flame atomic absorption spectrometry after acid mineralization. Cd and Mn were more efficiently bioaccumulated by scallops than mussels and the opposite was found for Fe, Cu and Ni. Guanabara Bay and Sepetiba Bay were considered the most impacted between ecosystems studied. Higher Cd values in Arraial do Cabo in the other sites studied were associated with upwelling that occurs in the region. Consumption of both species cannot be considered safe, because the Cu and Cr concentrations, in accordance with the limits established by the Brazilian Agency (ANVISA). On the other hand, any EDI value exceeded the corresponding value of the PTDI, proposed by World Health Organization (WHO).

Purification and characterization of bisulfite reductase (desulfofuscidin) from Desulfovibrio thermophilus and its complexes with exogenous ligands.

A dissimilatory bisulfite reductase has been purified from a thermophilic sulfate-reducing bacterium Desulfovibrio thermophilus (DSM 1276) and studied by EPR and optical spectroscopic techniques. The visible spectrum of the purified bisulfite reductase exhibits absorption maxima at 578.5, 392.5 and 281 nm with a weak band around 700 nm. Photoreduction of the native enzyme causes a decrease in absorption at 578.5 nm and a concomitant increase in absorption at 607 nm. When reduced, the enzyme reacts with cyanide, sulfite, sulfide and carbon monoxide to give stable complexes. The EPR spectrum of the native D. thermophilus bisulfite reductase shows the presence of a high-spin ferric signal with g values at 7.26, 4.78 and 1.92. Upon photoreduction the high-spin ferric heme signal disappeared and a typical 'g = 1.94' signal of [4Fe-4S] type cluster appeared. Chemical analyses show that the enzyme contains four sirohemes and eight [4Fe-4S] centers per mol of protein. The molecular mass determined by gel filtration was found to be 175 kDa. On SDS-gel electrophoresis the enzyme presents a main band of 44 to 48 kDa. These results suggest that the bisulfite reductase contains probably one siroheme and two [4Fe-4S] centers per monomer. The dissimilatory bisulfite reductase from D. thermophilus presents some homologous properties with desulfofuscidin, the bisulfite reductase isolated from Thermodesulfobacterium commune (Hatchikian, E.C. and Zeikus, J.G. (1983) J. Bacteriol. 153, 1211-1220).

Uso del propranolol en hemangioma segmentario de la cara. A propósito de un caso / Use of propranolol in facial segmental hemangioma. Regarding a case

RESUMEN En los hemangiomas de la infancia de tipo segmentario son frecuentes las complicaciones, por lo que es necesario el tratamiento de estas lesiones. El propranolol es en la actualidad la primera línea de tratamiento en estos casos. Se reporta el caso de una lactante de un mes de edad con hemangioma segmentario de la cara, diagnosticada y tratada en el Hospital Pediátrico de Cienfuegos. Se le administra propranolol y demostró regresión casi completa de la lesión, se mantuvo el tratamiento por un año y no presentó ninguna complicación con su uso.

ABSTRACT Complications are frequent in childhood segmental hemangiomas, so treatment of these lesions is necessary.Propranolol is currently the first line treatment in these cases. The case of a one-month-old infant with a segmental hemangioma of the face, diagnosed and treated at the Pediatric Hospital of Cienfuegos, is reported. He was given propranolol and showed almost complete lesion regression, maintaining the treatment for one year and any complication occurred.

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.

The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course.