Integrative taxonomy and phylogenetic relationships between representatives of genera within Merliniinae (Nematoda: Merliniidae), with new data on fourteen known and one unknown species.

The application of integrative taxonomic approaches is useful to species delineation based on a combination of distinct types of characters, here morphological features and ribosomal DNA sequences. In this study, we surveyed ectoparasitic nematodes of the subfamily Merliniinae in cultivated and natural environments in Iran. Results of morphological and morphometrical studies, light and scanning electron microscopic observations, and molecular analyses allowed us the identification of fourteen known and one unknown species including representatives of the genera Amplimerlinius (five species), Geocenamus (one species), Merlinius (three species), Nagelus (two species), Paramerlinius (one species), Scutylenchus (two species), and Telomerlinius (one species). The unknown species, Scutylenchus sp., characterized by having 35-50 incisures at mid-body; lateral field with 6 longitudinal incisures; lip region slightly offset by a constriction, flattened at front end; bearing 5-7 annuli; cephalic framework not refractive; stylet robust, 18.3-27 µm long; post anal intestinal sac absent; tail elongate conical, dorsally convex, with 24 (19-28) annuli in ventral side, ending to a smooth terminus and males common; spicules 24.5-31 µm long. The phylogenetic analyses were carried out using molecular data from nuclear ribosomal DNA (rDNA) genes viz. D2-D3 expansion segments of the large ribosomal subunit (28S rRNA), partial small ribosomal subunit (18S rRNA), and internal transcribed spacer (ITS). The molecular variability of D2-D3 expansion segments of the 28S rRNA and partial 18S rRNA was low in this family in comparison to the ITS region, which could be a more helpful molecular marker in species and genus identification.

Using a Kirschner Wire as a Stylet for the Management of a Difficult Neonatal Airway: A Case Report.

We report the successful management of a difficult airway in an extremely low birth weight neonate (700 g) using a Kirschner wire as a substitute for an endotracheal tube stylet. Several intubation attempts were unsuccessful because of the difficulty in guiding a very small and malleable tube under the epiglottis. This study highlights that every maternity hospital should be prepared to manage airways in unexpected extremely low birth weight neonates. Appropriate size equipment and protocols should be readily available.

PAH source differentiation between historical MGP and significant urban influences for sediments in San Francisco Bay.

A forensic source evaluation of polycyclic aromatic hydrocarbons (PAHs) in nearshore sediments in San Francisco Bay examined total PAH greater than ambient concentrations in sediments, and potential pyrogenic source relationships with respect to PAH compounds typically associated with point and nonpoint pyrogenic source types, including PAHs potentially associated with historical manufactured gas plant (MGP) operations. Diagnostic source ratio analysis was employed for determination of potential PAH source relationships. A two-model approach indicated distinct potential source signatures, as identified from the distributions of higher PAH concentrations in some sediments. Source characterization was aided by Polytopic Vector Analysis (PVA) and data visualization with t-Distributed Stochastic Neighbor Embedding (t-SNE). Two signatures exhibited pyrogenic character likely consistent with historical MGP sources, and one signature was related to creosote. A distinct and significant source of PAHs to the investigation area sediment consisted of ubiquitous nonpoint and potential unidentified point sources is termed "urban influence".

A higher protein intake at breakfast and lunch is associated with a higher total daily protein intake in older adults: a post-hoc cross-sectional analysis of four randomised controlled trials.

BACKGROUND: A protein intake of 30-40 g per meal is suggested to maximally stimulate muscle protein synthesis in older adults and could therefore contribute to the prevention of sarcopenia. Protein intake at breakfast and lunch is often low and offers a great opportunity to improve daily protein intake. Protein, however, is known for its satiating effects. Therefore, we explored the association between the amount of protein intake at breakfast and lunch and total daily protein intake in older adults. METHODS: Protein intake was assessed by a 3-day food record in 498 community dwelling older adults (≥55 years) participating different lifestyle interventions. Linear mixed model analysis was used to examine the association between protein intake at breakfast or lunch and total daily protein intake, adjusted for sex, age, body mass index, smoking status, study and total energy intake. RESULTS: After adjustment for potential confounders, a 10 g higher protein intake at breakfast was associated with a 3.2 g higher total daily protein intake (P = 0.008) for males and a 4.9 g (P < 0.001) higher total daily protein intake for females. A 10 g higher protein intake at lunch was associated with a 3.7 g higher total daily protein intake (P < 0.001) for males, and a 5.8 g higher total daily protein intake (P < 0.001) for females. CONCLUSIONS: A higher protein intake at breakfast and lunch is associated with a higher total daily protein intake in community dwelling older adults. Stimulating a higher protein intake at breakfast and lunch might represent a promising nutritional strategy to optimise the amount of protein per meal without compromising total daily protein intake.

Reduced graphene oxide, but not carbon nanotubes, slows murine melanoma after thermal ablation using LED light in B16F10 lineage cells.

Photodynamic therapy is a minimally invasive health technology used to treat cancer and other non-malignant diseases, as well as inactivation of viruses, bacteria and fungi. In this work, we sought to combine the phototherapy technique using low intensity LED (660 nm) to induce ablation in melanoma tumor in mice treated with nanoparticles. In vitro and in vivo studies were conducted, and our results demonstrated that multi-walled carbon nanotubes (MWCNTs) do not destroy tumor cells in vivo, but stimulate the inflammatory process and angiogenesis. Reduced graphene oxide (rGO), has been shown to play a protective role associated with the LED ablation, inducing necrosis, stimulation of immune response by lymphoproliferation, and decreased tumor mass in vivo. We consider that LED alone can be very effective in controlling the growth of melanoma tumors and its association with rGO is potentiated.

Therapeutic angiogenesis induced by human umbilical cord tissue-derived mesenchymal stromal cells in a murine model of hindlimb ischemia.

BACKGROUND: Mesenchymal stem cells derived from human umbilical cord tissue, termed UCX®, have the potential to promote a full range of events leading to tissue regeneration and homeostasis. The main goal of this work was to investigate UCX® action in experimentally induced hindlimb ischemia (HLI). METHODS: UCX®, obtained by using a proprietary technology developed by ECBio (Amadora, Portugal), were delivered via intramuscular injection to C57BL/6 females after unilateral HLI induction. Perfusion recovery, capillary and collateral density increase were evaluated by laser doppler, CD31 immunohistochemistry and diaphonisation, respectively. The activation state of endothelial cells (ECs) was analysed after EC isolation by laser capture microdissection microscopy followed by RNA extraction, cDNA synthesis and quantitative RT-PCR analysis. The UCX®-conditioned medium was analysed on Gallios flow cytometer. The capacity of UCX® in promoting tubulogenesis and EC migration was assessed by matrigel tubule formation and wound-healing assay, respectively. RESULTS: We demonstrated that UCX® enhance angiogenesis in vitro via a paracrine effect. Importantly, after HLI induction, UCX® improve blood perfusion by stimulating angiogenesis and arteriogenesis. This is achieved through a new mechanism in which durable and simultaneous upregulation of transforming growth factor ß2, angiopoietin 2, fibroblast growth factor 2, and hepatocyte growth factor, in endothelial cells is induced by UCX®. CONCLUSIONS: In conclusion, our data demonstrate that UCX® improve the angiogenic potency of endothelial cells in the murine ischemic limb suggesting the potential of UCX® as a new therapeutic tool for critical limb ischemia.

Clinical determination of angle convergence in a tooth preparation for a complete crown.

The relationship of the convergence angle (CA) to the height of the axial walls is the most important factor for providing retention and resistance in tooth preparation for a complete crown. Several studies have shown that the ideal CA is difficult to achieve in clinical practice. The technique described in this article allows for the determination of the CA during the tooth preparation procedure, based on an instrument developed and created by the authors.

First Report of Plant-Parasitic Nematode Meloidoderita salina in the Netherlands.

After the description of the root-parasitic nematode Meloidoderita salina from a tidal salt marsh in France (1), an additional sampling was carried out to search for the presence of this unusual nematode in a tidal salt marsh area close to Sint-Annaland, Zeeland Province, the Netherlands. In August and October 2012, a total of 25 soil and root samples were collected from the halophytic plants Atriplex portulacoides L. (so far the only known host for this nematode species), A. littoralis L., A. prostrata Boucher ex DC., Limonium vulgare Mill., Salicornia europaea L., Aster tripolium L., and Plantago maritima L. All these halophytes grow in a cohesive muddy soil type within the salt marsh, except A. littoralis and A. prostrata, which grow in the litter tidal zones on the edges of this area. Nematodes from roots and soil were extracted by centrifugal flotation (2) and Oostenbrink's cotton-wool filter methods (4), respectively. Additionally, roots were used for direct observation of females and young cystoids with a dissecting microscope. Finally, all stages were compared morphologically with available type material (1). Root and soil samples demonstrated that only nematodes isolated from A. portulacoides, A. littoralis, and A. prostrata contained all life stages of the genus Meloidoderita, while on the roots of L. vulgare, S. europaea, A. tripolium, and P. maritima, no Meloidoderita was observed. The soil samples included males, cystoids, and second-stage juveniles (J2) in low densities (<20 nematodes/100 ml), while swollen females and young cystoids were observed on root samples. All stages (n = 10 per life stage) fit morphologically with the recently described M. salina. Females were swollen with an oval to pear shaped body with a small posterior protuberance, irregular and twisted neck, oval and backwardly sloping stylet knobs, a prominent secretory-excretory (S-E) pore with cuticular lobes, and a swollen uterus with a thick hyaline wall. Males were without stylet, strongly sclerotized S-E duct, and tail tapering to rounded terminus ending in one or two ventrally terminal mucron. J2s had a well-developed stylet and rounded knobs set off from shaft and conical tail slightly curved ventrally and tapering to a finely pointed terminus with a finger-like projection. Cystoids showing the unique sub-cuticular hexagonal beaded pattern (1). J2s were also used for molecular analysis. DNA was extracted by incubating individual J2s in a lysis buffer as described in (3). Two primer combinations were used to amplify the small subunit ribosomal DNA (SSU rDNA) from a 100-times-diluted crude lysate (two overlapping fragments, [3]). The resulting (nearly) full-length SSU-rDNA sequences (GenBank KF751617 and KF751618) showed >99% identity with M. salina sequences from nematodes collected in the aforementioned tidal salt marsh in France (FJ969126 and FJ969127). To our knowledge, this is the first report of M. salina in the Netherlands. Moreover, this is the first record of M. salina parasitizing A. littoralis and A. prostrata. Although these Atriplex species are used for human consumption, the effect of M. salina on the host is unknown so far. References: (1) S. Ashrafi et al. Zookeys 249:1, 2012. (2) W. A. Coolen. Pages 317-329 in: Root-knot nematodes (Meloidogyne species). Systematics, biology and control. Academic Press, New York, 1979. (3) Holterman et al. Mol. Biol. Evol. 23:1792, 2006. (4) M. Oostenbrink. Pages 85-102 in: Nematology. University of North Carolina Press, Chapel Hill, 1960.

Comportamento da síndrome coronariana aguda: resultados de um registro brasileiro / Acute coronary syndrome behavior: results of a Brazilian registry

FUNDAMENTO: O Brasil carece de registros multicêntricos publicados de síndrome coronariana aguda. OBJETIVO: O Registro Brasileiro de Síndrome Coronariana Aguda é um estudo multicêntrico nacional com objetivo de apresentar dados representativos das características clínicas, e manejo e evolução hospitalares dessa síndrome. MÉTODOS: Participaram 23 hospitais de 14 cidades. Foram elegíveis pacientes que se apresentaram com suspeita de síndrome coronariana aguda nas primeiras 24 horas, com quadro clínico sugestivo, associado a alterações eletrocardiográficas compatíveis e/ou marcadores de necrose. O seguimento foi realizado até o óbito ou a alta hospitalar. RESULTADOS: Entre os anos de 2003 e 2008, foram incluídos 2.693 pacientes com diagnóstico de síndrome coronariana aguda, sendo 864 (32,1%) mulheres. O diagnóstico final foi de angina instável para 1.141 (42,4%) pacientes, com mortalidade de 3,06% deles; de infarto agudo do miocárdio sem supradesnível de ST para 529 (19,6%) pacientes, com mortalidade de 6,8% deles; e de infarto agudo do miocárdio com supradesnível de ST para 950 (35,3%) pacientes, com mortalidade de 8,1% deles; tiveram diagnóstico não confirmado 73 (2,7%) pacientes, com mortalidade de 1,36% deles. A mortalidade global foi de 5,53%. O modelo de regressão logística múltipla identificou o gênero feminino (OR=1,45), o diabetes melito (OR=1,59), o índice de massa corporal (OR=1,27) e a intervenção coronariana percutânea (OR=0,70) como fatores de risco de óbito, para demografia e intervenções. Um modelo para óbito por complicações maiores identificou choque cardiogênico/Edema Agudo de Pulmão (OR=4,57), reinfarto (OR=3,48), acidente vascular cerebral (OR=21,56), sangramento grave (OR=3,33), parada cardiorrespiratória (OR=40,27) e classe funcional de Killip (OR=3,37). CONCLUSÃO: Os dados do Registro Brasileiro de Síndrome Coronariana Aguda não diferem de outros coletados fora do país. Seus achados poderão ajudar a promover um melhor planejamento e manejo do atendimento da síndrome coronariana aguda a nível público e privado.

BACKGROUND: Brazil lacks published multicenter registries of acute coronary syndrome. OBJECTIVE: The Brazilian Registry of Acute Coronary Syndrome is a multicenter national study aiming at providing data on clinical aspects, management and hospital outcomes of acute coronary syndrome in our country. METHODS: A total of 23 hospitals from 14 cities, participated in this study. Eligible patients were those who came to the emergency wards with suspected acute coronary syndrome within the first 24 hours of symptom onset, associated with compatible electrocardiographic alterations and/or altered necrosis biomarkers. Follow-up lasted until hospital discharge or death, whichever occurred first. RESULTS: Between 2003 and 2008, 2,693 ACS patients were enrolled, of which 864 (32.1%) were females. T he final diagnosis was unstable angina in 1,141 patients, (42.4%), with a mortality rate of 3.06%, non-ST elevation acute myocardial infarction (AMI) in 529 (19.6%), with mortality of 6.8%, ST-elevation AMI 950 (35.3%), with mortality of 8.1% and non-confirmed diagnosis 73 (2.7%), with mortality of 1.36%. The overall mortality was 5.53%. The multiple logistic regression model identified the following as risk factors for death regarding demographic factors and interventions: female gender (OR=1.45), diabetes mellitus (OR=1.59), body mass index (OR=1.27) and percutaneous coronary intervention (OR=0.70). A second model for death due to major complications identified: cardiogenic shock/acute pulmonary edema (OR=4.57), reinfarction (OR=3.48), stroke (OR=21.56), major bleeding (OR=3.33), cardiopulmonary arrest (OR=40.27) and Killip functional class (OR=3.37). CONCLUSION: The Brazilian Registry of Acute Coronary Syndrome data do not differ from other data collected abroad. The understanding of their findings may help promote better planning and management of acute coronary syndrome care in public and private health services.

Acute coronary syndrome behavior: results of a Brazilian registry.

BACKGROUND: Brazil lacks published multicenter registries of acute coronary syndrome. OBJECTIVE: The Brazilian Registry of Acute Coronary Syndrome is a multicenter national study aiming at providing data on clinical aspects, management and hospital outcomes of acute coronary syndrome in our country. METHODS: A total of 23 hospitals from 14 cities, participated in this study. Eligible patients were those who came to the emergency wards with suspected acute coronary syndrome within the first 24 hours of symptom onset, associated with compatible electrocardiographic alterations and/or altered necrosis biomarkers. Follow-up lasted until hospital discharge or death, whichever occurred first. RESULTS: Between 2003 and 2008, 2,693 ACS patients were enrolled, of which 864 (32.1%) were females. T he final diagnosis was unstable angina in 1,141 patients, (42.4%), with a mortality rate of 3.06%, non-ST elevation acute myocardial infarction (AMI) in 529 (19.6%), with mortality of 6.8%, ST-elevation AMI 950 (35.3%), with mortality of 8.1% and non-confirmed diagnosis 73 (2.7%), with mortality of 1.36%. The overall mortality was 5.53%. The multiple logistic regression model identified the following as risk factors for death regarding demographic factors and interventions: female gender (OR=1.45), diabetes mellitus (OR=1.59), body mass index (OR=1.27) and percutaneous coronary intervention (OR=0.70). A second model for death due to major complications identified: cardiogenic shock/acute pulmonary edema (OR=4.57), reinfarction (OR=3.48), stroke (OR=21.56), major bleeding (OR=3.33), cardiopulmonary arrest (OR=40.27) and Killip functional class (OR=3.37). CONCLUSION: The Brazilian Registry of Acute Coronary Syndrome data do not differ from other data collected abroad. The understanding of their findings may help promote better planning and management of acute coronary syndrome care in public and private health services.

Effects of multi-walled carbon nanotubes (MWCNT) under Neisseria meningitidis transformation process.

BACKGROUND: This study aimed at verifying the action of multi-walled carbon nanotubes (MWCNT) under the naturally transformable Neisseria meningitidis against two different DNA obtained from isogenic mutants of this microorganism, an important pathogen implicated in the genetic horizontal transfer of DNA, causing the escape of the principal vaccination measured worldwide by the capsular switching process. MATERIALS AND METHODS: The bacterium receptor strain C2135 was cultivated and had its mutant DNA donor M2 and M6, which received a receptor strain and MWCNT at three different concentrations. The inhibition effect of DNAse on the DNA in contact with nanoparticles was evaluated. RESULTS: The results indicated an in increase in the transformation capacity of N. meninigtidis in different concentrations of MWCNT when compared with negative control without nanotubes. A final analysis of the interaction between DNA and MWCNT was carried out using Raman Spectroscopy. CONCLUSION: These increases in the transformation capacity mediated by MWCNT, in meningococci, indicate the interaction of these particles with the virulence acquisition of these bacteria, as well as with the increase in the vaccination escape process.

Up-regulation of T lymphocyte and antibody production by inflammatory cytokines released by macrophage exposure to multi-walled carbon nanotubes.

Our data demonstrate that multi-walled carbon nanotubes (MWCNTs) are internalized by macrophages, subsequently activating them to produce interleukin (IL)-12 (IL-12). This cytokine induced the proliferative response of T lymphocytes to a nonspecific mitogen and to ovalbumin (OVA). This increase in the proliferative response was accompanied by an increase in the expression of pro-inflammatory cytokines, such as interferon-gamma (IFNγ), tumor necrosis factor-alpha (TNFα) and IL-6, in mice inoculated with MWCNTs, whether or not they had been immunized with OVA. A decrease in the expression of transforming growth factor-beta (TGFß) was observed in the mice treated with MWCNTs, whereas the suppression of the expression of both TGFß and IL-10 was observed in mice that had been both treated and immunized. The activation of the T lymphocyte response by the pro-inflammatory cytokines leads to an increase in antibody production to OVA, suggesting the important immunostimulatory effect of carbon nanotubes.

AC-conductance and capacitance measurements for ethanol vapor detection using carbon nanotube-polyvinyl alcohol composite based devices.

We report the preparation of inexpensive ethanol sensor devices using multiwalled carbon nanotube-polyvinyl alcohol composite films deposited onto interdigitated electrodes patterned on phenolite substrates. We investigate the frequency dependent response of the device conductance and capacitance showing that higher sensitivity is obtained at higher frequency if the conductance is used as sensing parameter. In the case of capacitance measurements, higher sensitivity is obtained at low frequency. Ethanol detection at a concentration of 300 ppm in air is demonstrated. More than 80% of the sensor conductance and capacitance variation response occurs in less than 20 s.

Small subunit rDNA-based phylogeny of the Tylenchida sheds light on relationships among some high-impact plant-parasitic nematodes and the evolution of plant feeding.

Cyst (Heteroderidae), root knot (Meloidogyne spp.), and lesion (Pratylenchus spp.) nematodes all belong to a single nematode order, Tylenchida. However, the relationships between and within these economically highly relevant groups, and their relatedness to other parasitic Tylenchida is unclear. We constructed a phylogeny of 116 Tylenchida taxa based on full length small subunit ribosomal DNA (small subunit [SSU] rDNA) sequences. Ancestral state reconstruction points at a gradual development of simple to more complex forms of plant parasitism. Good resolution was observed in distal clades that include cyst, root knot, and lesion nematodes, and monophyly of most families was confirmed. Our data suggest that root knot nematodes have evolved from an ancestral member of the genus Pratylenchus, but it remains unclear which species is closest to this branching point. Contrary to the notoriously polyphagous distal representatives, basal members of the genus Meloidogyne (and probably, their common ancestor) have narrow host ranges. Our analysis also shows that mitotic parthenogeny has arisen at least two times independently among root knot nematodes. In many cases resolution till species was observed, suggesting that SSU rDNA sequences have a potential for DNA barcode-based species identification with, due to the overall conserved nature of this gene, limited intra-species variation.

Establishment of optimal conditions for long-term culture of erythrocytic stages of Theileria uilenbergi.

OBJECTIVE: To establish optimal conditions for long-term culture of the erythrocytic stage of Theileria uilenbergi. SAMPLE POPULATION: Red blood cells from 3 splenectomized sheep experimentally infected with a blood stabilate of T uilenbergi. PROCEDURES: Cultures of T uilenbergi were initiated by use of blood from experimentally infected sheep collected when parasites were detected in Giemsa-stained thin blood smears. Different culture conditions were tested to optimize in vitro growth of the organisms. Subcultures were performed at a ratio of 1:2, 1:4, and 1:8 when the percentage of parasitized erythrocytes (PPE) was at least 1% or when the initial PPE was doubled. RESULTS: The optimal culture medium was HL-1 medium (a complete chemically defined medium) supplemented with 20% sheep serum and 0.75% chemically defined lipids. Optimal culture conditions included incubation in a humidified 2% O(2), 5% CO(2), and 93% N(2) atmosphere at 37 degrees C. Cultures of the merozoite stage of the parasite were continuously propagated in vitro for > 1 year. The PPE reached values of up to 3%. CONCLUSIONS AND CLINICAL RELEVANCE: Optimization of culture conditions to reach a high PPE seems worthwhile. The continuous propagation of T uilenbergi in culture allows the production of parasite material without infecting animals and provides a continuous laboratory source of parasites for further studies.

Spherical vs. granular immobilization support selection and performance on an optical flow cell immunosensor based on the fluorescence of Cyanine-5.

A spherical porous glass support Trisoperl (TRISO) with four pore diameters (ø 47.8; 55.9; 102.6, and 108.8 nm) was characterized and selected for application in an optical flow cell immunosensor, in comparison with controlled pore glass (CPG). The TRISO support was functionalized with aldehyde and isothiocyanate (-NCS) groups to attach bovine serum albumin and alkaline phosphatase (AP). The TRISO isothiocyanate pore diameter 47.8 nm (TRISO(-NCS) 47.8 nm) showed the better potential to be used in the immunosensor. It immobilized more protein (19.3 mg AP per g support) while presenting an optical performance comparable to the CPG. CPG(-NCS) and TRISO(-NCS) 47.8 nm were tested in the immunosensor model where the saturation of the Goat IgG immobilized in the supports with Monoclonal Anti-Goat IgG conjugated with Cyanine-5 was reached, followed by regeneration with the elution buffer modified PBS pH 2.0. The TRISO(-NCS) 47.8 nm presented lower fluorescence intensity at saturation (around 39 AU) than CPG(-NCS) (150 to 104 AU), but revealed a major advantage related to the uniform arrangement of the spherical particles in the flow cell, generating no significant fluorescence differences between gravity and flow package.

Multi-minicore disease revisited.

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.

Multi-minicore disease revisited

A miopatia dos múltiplos minifocos (MM) é doença congênita rara, definida por alterações estruturais observadas ao microscópio óptico e eletrônico: múltiplas e pequenas áreas sem atividade enzimática oxidativa e desorganização focal das proteínas contráteis envolvendo poucos sarcômeros. A forma clássica da doença se manifesta com hipotonia mais ou menos grave e fraqueza generalizada, predominante em músculos axiais e proximais em membros. Entretanto, variantes clínicas existem. A MM é usualmente herdada como traço autossômico recessivo. Heterogeneidade genética tem sido reconhecida e até o momento mutações nos genes RYR1 e SEPN1 foram detectadas. Relatamos três casos de MM. Caso 1, que tem a forma clássica e benigna da doença, assim permaneceu ao longo de 15 anos. Caso 2 apresentou envolvimento faringo-laríngeo e grave atraso no controle cefálico que melhorou gradualmente, até que a deambulação plena foi adquirida aos seis anos; permanece com moderada limitação das atividades da vida diária. Caso 3 teve início pré-natal, expresso através de artrogripose das mãos. Havia predominância de déficit em cintura escapular e o curso tem sido estável, com fisioterapia, por 10 anos. Os casos foram selecionados pelas características morfológicas na biópsia do biceps braquial que incluiu microscopia eletrônica. Enfatizamos, no caso 2, a uniformidade das fibras do tipo 1 e a leve fibrose do endomísio, tendo sido necessário o diagnóstico diferencial com distrofia muscular congênita.

Análise de 52 pacientes com traumatismo de crônio atendidos em uti pediátrica: considerações sobre o uso da monitorização da pressão intracraniana / Analysis of 52 patients with head trauma assisted at pediatric intensive care unit: considerations about intracranial pressure monitoring

OBJETIVO:Análise de 52 pacientes pediátricos com trauma de crânio (TCE) assistidos em Unidade de Terapia Intensiva, considerando fatores epidemiológicos do trauma, manifestações clínicas, aspectos tomográficos, variações hemodinâmicas e opções de tratamento da hipertensão intracraniana; avaliar a utilização da monitorização da pressão intracraniana (PIC). MÉTODO:Estudoretrospectivo de 52 pacientes com TCE e 17 destes submetidos a monitorização da PIC. RESULTADO:Houve predominância masculina e a média de idade foi 7,75 anos. Atropelamento foi a principal causa (38,5% dos casos). Encontramos 21,2% dos pacientes com hipotensão arterial. Foram classificados como TCE grave 67,3% dos pacientes. Tivemos graduação tomográfica de Marshall tipo I em 19,2%, II em 65,4%, III em 3,8%, IV em 3,8% e V em 7,7%. Apresentaram crise convulsiva 25%. Foram submetidos a monitorização da PIC 32,7%. A taxa de mortalidade foi 11,5%. O maior valor pressórico ocorreu no segundo dia em 58,8%. CONCLUSÃO: O prognóstico se relacionou com a severidade do trauma, hipotensão arterial, graduação tomográfica de Marshall tipo III e IV e altos valores de PIC. A monitorização da PIC permite facilidades no diagnóstico e tratamento da hipertensão intracraniana