Κυριακή, 5 Ιουνίου 2016

Perioperative course in patients with hereditary or acquired angioedema

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Two types of bradykinin-mediated angioedema, hereditary angioedema (HAE) and acquired angioedema (AAE), result from deficiency or dysfunction of C1 esterase inhibitor, leading to an overproduction of bradykinin, which can lead to vascular permeability and life-threatening angioedema of the airway. The objective of this study was to review perioperative outcomes in a series of patients with HAE and AAE and to review current knowledge about anesthetic complications in patients with HAE or AAE.

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Magnesium sulfate improves postoperative analgesia in laparoscopic gynecologic surgeries: a double-blind randomized controlled trial

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The aim of this study is to compare the analgesic effect of intravenous infusion of magnesium sulfate to ketorolac during laparoscopic surgeries.

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Myoclonus-like involuntary movements following cesarean delivery epidural anesthesia

Spinal myoclonus following neuraxial anesthesia is rare. This report describes a case of myoclonus-like involuntary movement that occurred during the recovery from epidural anesthesia for a cesarean delivery. The patient's symptom improved with the administration of benzodiazepine, and the patient recovered with no neurological sequelae. In conclusion, epidural anesthesia can cause spinal myoclonus, which can be treated with a benzodiazepine.

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Accuracy associated with the activity determination by in situ gamma spectrometry of naturally occurring radionuclides in soils

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Publication date: October 2016
Source:Journal of Environmental Radioactivity, Volumes 162–163
Author(s): A. Baeza, J.A. Corbacho, J. Guillén
In situ gamma spectrometry (ISGS) is a technique mainly focused on the determination of man-made radionuclides deposited on soils. It is widely used for the radioactive characterization of soils in which there has been an incorporation of such radionuclides, especially 137Cs. Its use for the activity determination of naturally occurring radionuclides in soils has been more limited, and the accuracy associated with those measurements has yet to be treated extensively. There are numerous factors affecting the accuracy of the activity determination of naturally occurring radionuclides, such as the assumed soil geometry, the soil's geological and mineral composition, its moisture content, etc. The present work studies the accuracy associated with the ISGS determination of the activity concentrations of natural radionuclides in soils using a portable HPGe detector. For 40K and 232Th activity determinations, the uncertainties associated with ISGS are generally of the order of 15%. However, 226Ra activity determined from its daughters 214Pb and 214Bi can be significantly overestimated when there is a major presence of 222Rn in the air around the detector. Finally, absorbed dose rate in air values were calculated from the naturally occurring radionuclide concentration in soils. The results showed good correspondence between the values obtained from ISGS and those obtained from laboratory determinations with the same soils.



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Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome

Coffin–Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3–p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8-Mb region containing 46 protein coding genes, including SMARCA2. Dominant negative effects of SMARCA2 mutations may contribute to Nicolaides–Baraitser syndrome. We conclude that their features better resemble Coffin–Siris syndrome, rather than Nicolaides–Baraitser syndrome and that these features likely arise from SMARCA2 over-dosage. Pure 9p duplications (not caused by unbalanced translocations) are rare. Copy number analysis in patients with features that overlap with Coffin–Siris syndrome is recommended to further determine their genetic aspects. © 2016 Wiley Periodicals, Inc.



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Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation



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SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases

Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides–Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc.



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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype–phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway. Here we report four patients with de novo missense mutations in protein phosphatase one catalytic subunit beta (PPP1CB), sharing a recognizable phenotype. Three individuals had the recurrent PPP1CB c.146G>C, p.Pro49Arg mutation, the fourth had a c.166G>C, p.Ala56Pro change. All had relative or absolute macrocephaly, low-set and posteriorly angulated ears, and developmental delay. Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes. One of two males had cryptorchidism, another had pectus excavatum. Short stature was present in three. A female with the recurrent mutation had a Dandy–Walker malformation and optic nerve hypoplasia. Mild ventriculomegaly occurred in all, cerebellar tonsillar ectopia was seen in two and progressed to Chiari 1 malformation in one individual. Based on the combination of phenotypic findings and PPP1CB's effect on RAF dephosphorylation within the RAS/MAPK pathway, this novel condition can be considered a rasopathy, most similar to NS-LAH. Collectively, these mutations meet the standardized criteria for pathogenicity. © 2016 Wiley Periodicals, Inc.



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Bilateral sensory deprivation of trigeminal afferent fibres on corticomotor control of human tongue musculature: a preliminary study

Summary

Transcranial magnetic stimulation (TMS) has demonstrated changes in motor evoked potentials (MEPs) in human limb muscles following modulation of sensory afferent inputs. The aim of this study was to determine whether bilateral local anaesthesia (LA) of the lingual nerve affects the excitability of the tongue motor cortex (MI) as measured by TMS. The effect on MEPs after bilateral LA of the lingual nerve was studied, while the first dorsal interosseous (FDI) muscle served as a control in ten healthy participants. MEPs were measured on the right side of the tongue dorsum in four different conditions: (i) immediately prior to anaesthesia (baseline), (ii) during bilateral LA block of the lingual nerve, (iii) after anaesthesia had subjectively subsided (recovery) and (iv) 3 h after bilateral lingual block injection. MEPs were assessed using stimulus–response curves in steps of 10% of motor threshold (T). Eight stimuli were given at each stimulus level. The amplitudes of the tongue MEPs were significantly influenced by the stimulus intensity (P < 0·001) but not by condition (P = 0·186). However, post hoc tests showed that MEPS were statistically significantly higher during bilateral LA block condition compared with baseline at T + 40%, T + 50% and T + 60% (P < 0·028) and also compared with recovery at T + 60% (P = 0·010) as well as at 3 h after injection at T + 50% and T + 60% (P < 0·029). Bilateral LA block of the lingual nerve seems to be associated with a facilitation of the corticomotor pathways related to the tongue musculature.



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Characterization of genes coding for galacturonosyltransferase-like (GATL) proteins in rice

Abstract

In the present study, seven galacturonosyltransferase-like (GATL) genes (OsGATLs) in rice (Oryza sativa L.) were genome-widely identified and the chromosomal locations and the gene structures of which were characterized. Under normal condition, OsGATL2 and OsGATL3 are highly expressed in root, while OsGATL4 is highly expressed in stem and leaf. Many cis-elements related to stress response and plant hormone were found in the promoter sequence of each OsGATL. The expression patterns of these OsGATL genes under treatment with abscisic acid (ABA), drought and low temperature were assessed by qRT-PCR. The expression levels of most OsGATLs significantly increased following the treatments with drought or low temperature. In addition, physicochemical properties of OsGATLs and phylogenetic analysis with GATL from rice and several other species were performed. 3D structures and protein–protein interaction (PPI) network of OsGATLs were further predicted by Swiss-model and STRING 9.0 database, respectively. The identification and bioinformatic analysis of GATL family in rice could provide reference data for further study on their biological functions, especially in the responsiveness to hormones and stress signaling.



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Measuring functioning and disability after a disaster: results from the typhoon Haiyan/Yolanda-affected areas of the Philippines.

The most commonly reported data after natural disasters are the number of deceased and displaced and the structural and economic damage, whereas disability data are often lacking. Our study assessed disability among the survivors of the Haiyan/Yolanda typhoon that struck Philippines in 2013 and is aimed to identify which context-level variables are associated with higher disability. We used a cross-sectional design and administered a household questionnaire, an individual sociodemographic questionnaire, and the WHODAS 2.0 to 1982 adults. Logistic regression analysis was carried out to address the degree to which demographic variables, effects of the typhoon, individual health state, and rural or urban residence were associated with higher disability. Those aged above 65, employed individuals, students, those not living in their households, and those with one or more health condition or rating their own as health moderate or very poor had higher likelihood of having severe disability. Survivors living in rural contexts and those who received tools/materials to repair their houses were less likely to have higher disability. This study outlines that disability can and should be used as an indicator in surveys after emergencies to identify the most vulnerable groups, thus guiding policies, reconstruction strategies, and health and social interventions. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Influence of repetitive peripheral magnetic stimulation on neural plasticity in the motor cortex related to swallowing.

The aim of this study was to evaluate the effect of repetitive peripheral magnetic stimulation at two different frequencies (20 and 30 Hz) on cortical excitability in motor areas related to swallowing in healthy individuals. The study participants were 10 healthy normal volunteers (two women and eight men, age range 25-36 years). Repetitive peripheral magnetic stimulation was applied to the submandibular muscle using a parabolic coil at the site where contraction of the suprahyoid muscles was elicited. Stimulation was continued for 10 min (total 1200 pulses) at 20 Hz on 1 day and at 30 Hz on another day, with the stimulation strength set at 90% of the intensity that elicited pain. The motor-evoked potential amplitude of suprahyoid muscles was assessed before, immediately after, and 30 min after stimulation. Stimulations at both 20 and 30 Hz significantly increased motor-evoked potential amplitude (P

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Intraocular pressure changes: the McGrath video laryngoscope vs the Macintosh laryngoscope; a randomized trial

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To determine the effects of the McGrath Series 5 video laryngoscope on intraocular pressure (IOP) during laryngoscopy.

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Insomnia may increase anesthetic requirement

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Gamma aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the central nervous system. It is a common target for general anesthetics, and it is strongly related to the etiology of chronic insomnia. In this study, we aimed to investigate whether insomnia has any effect on anesthetic requirement, and we also assessed pain to reveal a relationship with insomnia.

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The glycemic response to insulin as extracted from the DeLiT trial is not an indicator of tissue insulin sensitivity

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Abdelmalak et al examined the impact of weight and diabetes mellitus on the glycemic response to insulin during noncardiac surgery. They report results retrospectively obtained from 202 patients enrolled in the DeLiT trial and receiving insulin. Glycemic response to insulin was defined as the decrease in blood glucose per unit initial bolus of regular intravenous insulin.

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Efficacy of the Pentax-AWS Airwayscope with a newly developed Intlock for a double-lumen tracheal tube

Here, we report on our experiences with successful double-lumen tracheal tube (DLT) intubation with the Pentax-AWS Airwayscope (AWS; HOYA, Japan) video laryngoscope equipped with the newly developed Intlock for DLT (ITL-LL; HOYA) in a patient with severe rheumatoid arthritis with restricted mouth opening and head tilting. (See Fig. 1.)

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Emergency surgery for RhD-negative patients in the Asia region

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In Asia, the proportion of the population with RhD-negative blood is said to be less than 1%. Therefore, it is difficult to obtain RhD-negative packed red blood cells for transfusion in Japan, and there are hardly any hospitals that stock it. We report the case of a patient who required emergency surgery, and after finding that the patient's blood type was RhD negative, we struggled to find a solution.

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The importance of maintaining an optimal hemodynamic state during minimally invasive fetal surgery

Minimally invasive fetal surgery has become an accepted treatment option for several fetal life-threatening congenital malformations [1]. Fetoscopic surgery is mainly performed in the presence of congenital diaphragmatic hernia, neural tube defects, twin-to-twin transfusion syndrome, and cardiac malformations [2]. Prenatal repair of myelomeningocele reduces the need for shunting and improves motor outcomes [3]. In order not to compromise maternal and fetal health, a goal-directed therapy is mandatory.

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Evaluating sepsis training for medical students and nonphysicians in Malawi

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This study aimed to evaluate whether (regarding the Surviving Sepsis Campaign [SSC] guidelines) the training of Malawis scarce medical staff is adequate. Hospitals in Malawi have a severe shortage of human resources and therefore rely heavily on junior staff. Sepsis is a leading cause of admission to hospitals particularly in resource poor countries. It is associated with a high mortality rate. The SSC guidelines have been developed to help frontline staff diagnose and treat patients with sepsis.

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Intravenous line establishment and anesthesia induction in an upper extremity with congenital arteriovenous malformation

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A 19-year-old male patient was planned to undergo emergency surgery due to a thoracic mass causing paraplegia. He had a history of surgery due to an intracranial mass. In his physical examination, he had skin discoloration due to arteriovenous malformation (AVM) on the anterior chest, shoulder, arm, forearm, and fingers. His American Society of Anesthesiologists status was IIIE. He was taken to the surgery table and monitored in the standard manner. Through a 22-G intact intravenous line, anesthesia was induced with 500 mg sodium thiopental and 8 mg vecuronium, and maintenance was provided with 2.5% sevoflurane in 50% O2 and remifentanil.

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