Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

Background: Transporters, ion pumps, and ion channels are membrane proteins that regulate selective permeability and maintain ionic gradients across cell membranes. Mutations in CACNA1A encoding a neuronal calcium channel and ATP1A2 encoding an ion pump cause episodic ataxia, hemiplegic migraine, and seizures. Mutant gene products of both CACNA1A and ATP1A2 may affect neurotransmission of glutamate, the most abundant excitatory amino acid neurotransmitter. Methods: We examined our patient population with episodic ataxia and hemiplegic migraine but with no mutation in either CACNA1A or ATP1A2. We looked for mutations in SLC1A3, which encodes the glutamate transporter excitatory amino acid transporter (EAAT) 1 that is important in removing glutamate from the synaptic cleft. Results: A patient with episodic ataxia, seizures, migraine, and alternating hemiplegia has a heterozygous mutation in SLC1A3 that is not present in his asymptomatic parents and controls. Expression studies of the mutant EAAT1 showed decreased expression of the protein with a markedly reduced capacity for glutamate uptake. When coexpressed, the mutant EAAT1 decreased the activity of wild-type EAAT1 but not of two other transporters EAAT2 or EAAT3, suggesting that mutant EAAT1 specifically multimerizes with wild-type EAAT1 to exert its dominant negative effect. Conclusion: Our data show that a heterozygous mutation in EAAT1 can lead to decreased glutamate uptake, which can contribute to neuronal hyperexcitability to cause seizures, hemiplegia, and episodic ataxia.
Investigations into the polymorphism of lipid A from lipopolysaccharides of Escherichia coli and Salmonella minnesota by Fourier-transform infrared spectroscopy.

The polymorphism of lipid A, the endotoxic principle of the lipopolysaccharides of gram-negative bacteria, has been investigated in the fully hydrated state at temperatures between 5 degrees and 58 degrees C via Fourier-transform infrared spectroscopy. These measurements were supplemented by X-ray diffraction, fluorescence intensity techniques and differential thermal analysis. Up to three distinct phase transitions could be detected, with the main transition temperatures lying at approximately 41 degrees, 46 degrees, 44 degrees and 47 degrees C for Escherichia coli lipid A, Salmonella minnesota lipid A, and the synthetic lipid A compounds 506 and 516, respectively. 4'-Monophosphoryl-lipid A samples exhibited their main transition temperatures at considerably higher temperatures (about 52 degrees C for E. coli lipid A). The analysis of greater than CH2 stretching absorption bands as well as the wide-angle scattering behaviour of the lipid A samples showed that the main transition apparently involved the completion of hydrocarbon chain melting of lipid A, as typically observed for phospholipids. However, the phase transition behaviour was found to be much more complex than that usually observed for model phospholipid systems. Even below the main transition temperature, considerable amounts of the methylene segments of the acyl chains of lipid A were found to assume gauche conformations. These conformational changes might be related to the occurrence of up to two further transitions located at about 22 degrees, 30 degrees, 27 degrees and 25.5 degrees C (first transition) and at about 34 degrees, 42 degrees, 38.5 degrees and 40.5 degrees C (second transition) for E. coli lipid A, S. minnesota lipid A and the synthetic lipid A compounds 506 and 516, respectively. Furthermore, by the analysis of some characteristic infrared absorption bands related to the hydrophilic backbone, it could be demonstrated that the temperature-induced conformational changes occurring within the hydrocarbon chains were constantly and simultaneously accompanied by detectable rearrangements within the interfacial region and the polar head group of lipid A. The following conclusions were drawn: Up to about 30 degrees C the lipid A assemblies were supposed to adopt virtually bilayered, true lamellar arrangements, as revealed by the analysis of greater than CH2 scissoring vibrations and X-ray diffraction pattern. However, as indicated by fluorometric techniques, no stable closed vesicles seemed to be formed even under these conditions. (ABSTRACT TRUNCATED AT 400 WORDS)
Mechanical transmission of Bacillus anthracis by stable flies (Stomoxys calcitrans) and mosquitoes (Aedes aegypti and Aedes taeniorhynchus)

We evaluated the potential of stable flies, Stomoxys calcitrans, and two species of mosquitoes, Aedes aegypti and Aedes taeniorhynchus, to transmit Bacillus anthracis Vollum 1B mechanically. After probing on Hartley guinea pigs with a bacteremia of ca. 10(8.6) CFU of B. anthracis per ml of blood, individual or pools of two to four stable flies or mosquitoes were allowed to continue feeding on either uninfected guinea pigs or A/J mice. All three insect species transmitted lethal anthrax infections to both guinea pigs and mice. Both stable flies and mosquitoes transmitted anthrax, even when they were held at room temperature for 4 h after exposure to the bacteremic guinea pig before being allowed to continue feeding on the susceptible animals. This study confirms that blood-feeding insects can mechanically transmit anthrax and supports recent anecdotal reports of fly-bite-associated cutaneous human anthrax. The potential for flies to mechanically transmit anthrax suggests that fly control should be considered as part of a program for control of epizootic anthrax.
Clinical Course of Diabetic Ketoacidosis in Hypertriglyceridemic Pancreatitis

Objectives Hypertriglyceridemic pancreatitis (HP) is an uncommon condition accounting for 1% to 4% of cases of acute pancreatitis, mostly associated with poor glycemic control. Diabetic ketoacidosis (DKA) may complicate the clinical course of HP. Our objective was to identify clinical and demographic differences between HP and DKA patients compared with those without DKA. Methods Fifty-five patients with HP were included. Diabetic ketoacidosis was diagnosed in 8 patients. We analyzed the severity, hospital stay, delay in oral intake, duration of insulin infusion, complete blood cell count, and triglyceride levels. Results Diabetic ketoacidosis was associated with a more severe HP. There were no differences in hospital stay, delay in oral intake, or duration of insulin treatment in both groups. Serum amylase, lipase, and triglyceride levels were similar. Previous diagnosis of diabetes mellitus, higher Ranson and APACHE II scores, and higher serum glucose level at admission were the only predictive risk factors for DKA and HP. Conclusions Coexistence of DKA does not modify the clinical course of HP, although a more severe episode of HP in DKA patients. Diabetic ketoacidosis was associated with higher insulin doses, without impact in triglyceride levels. Diabetic ketoacidosis and HP should be considered when a previous diagnosis of diabetes mellitus and a severe HP are present.
Knockdown of lncRNA MEG3 inhibits viability, migration, and invasion and promotes apoptosis by sponging miR‐127 in osteosarcoma cell

Osteosarcoma (OS) is one of the most common bone malignancies and occurs almost exclusively in children and adolescents. This study aimed to explore the role of lncRNA maternally expressed gene 3 (MEG3) in OS cells growth and metastasis, and to uncover the possible underlying mechanism. In this study, the expressions of MEG3 in five OS cell lines (MG63, OS‐732, SaOS, G292, and 143B) and in a human osteoblast cell line hFOB1.19 were measured by qRT‐PCR analysis. The expressions of MEG3, miR‐127, and ZEB1 in OS‐732 cells were overexpressed or suppressed by transfection. Cell viability, migration, invasion, and apoptosis were then assessed. The results showed that MEG3 was highly expressed in OS cell lines when compared to hFOB1.19 cell. MEG3 silence significantly suppressed OS‐732 cells growth and metastasis, as evidenced by the decreases in cell viability, migration, invasion, and increase in apoptotic cell rate. MEG3 acted as an endogenous sponge by binding to miR‐127. More interestingly, MEG3 silence could not suppress OS‐732 cells growth and metastasis when miR‐127 was knocked down. ZEB1 was a target gene of miR‐127, and miR‐127 overexpression‐induced impairments in cell growth and metastasis were attenuated when ZEB1 was overexpressed. Moreover,miR‐127 suppression activated JNK and Wnt signaling pathways, while these activations were recovered by ZEB1 silence. To conclude, our findings suggest that lncRNA MEG3 promoted OS cells growth and metastasis in vitro through sponging miR‐127. This study provides the evidence that MEG3 may be a potential therapeutic target for OS.
Evaluation of a new transcutaneous bilirubinometer.

OBJECTIVE The objective of this study was to evaluate the Minolta/Hill-Rom Air-Shields Transcutaneous Jaundice Meter model JM-103. METHODS We studied a convenience sample of 849 newborns > or =35 weeks of gestation in 3 hospitals. These infants had total serum bilirubin (TSB) levels measured on clinical indication, and transcutaneous bilirubin (TcB) levels were obtained within 1 hour of the TSB levels. The population was 59.2% white, 29.8% black, 4.5% East Asian, 3.8% Middle Eastern, 1.6% Indian/Pakistani, and 1.1% Hispanic. RESULTS There was a close correlation between TSB and TcB values in all of the population groups: white (n = 503, r =.949); black (n = 253, r =.822); and East Asian, Indian/Pakistani, and Hispanic (n = 93, r =.926). In the black population, the correlation was less close than in the other groups, and differences between the TcB and TSB measurements tended to increase with rising TSB values. JM-103 values differed from TSB values by 3 mg/dL or more in 2% of white, 3.2% of other, and 17.4% of black infants. In these black infants, the JM-103 value was always greater than the TSB value. CONCLUSIONS We conclude that TcB measurements using the JM-103 jaundice meter correlate very closely with TSB levels over the range of TSB encountered in this study. Because only 3.3% of our infants had TSB values >15 mg/dL (257 micro mol/L), more data are needed in this range of TSB concentration. The correlation in black infants is not as close as in other groups, but because the tendency in blacks is for the JM-103 to overestimate serum bilirubin levels, dangerous clinical errors are unlikely to occur. The measurement technique is rapid and simple, and it is easy to perform repeated measurements over time, thus reducing the likelihood of error. TcB measurements with the JM-103 jaundice meter should obviate the need for most serum bilirubin levels in newborn infants > or =35 weeks of gestation, although serum bilirubin measurements are still required when treatment with phototherapy or exchange transfusion is being considered.
From informality to formality to informality: extralegal land transfers in an upgraded informal settlement of South Africa

Lochner Marais, University of the Free State, Faculty of Economic and Management Sciences, South Africa, MaraisJGL@ufs.ac. za John Ntema, Department of Development Studies, School of Social Science, University of South Africa, NtemaLJ@unisa.ac. za Jan Clete, University of the Free State, Faculty of Economic and Management Sciences, South Africa, CloeteJS@ufs.ac. za Anita Venter, University of the Free State, Faculty of Economic and Management Sciences, South Africa, VenterA@ufs.ac. za Abstract The paper discusses the nature of extralegal land transfers in an upgraded informal settlement in South Africa. The paper investigates these extralegal transfers in terms of the notion of property and property law as a social construct. The paper researches two main but contradictory conclusions, namely that either extralegal transfers are the result of the current social construct of property (also related to the historic lack of formal property for black people in South Africa) and / or that they are the result of the excessively high transaction costs of a formal transfer process. Keywords: Land transfers; extralegal land transfers; property; De Soto; World Bank; economic sociology
Factors associated with physical or sexual intimate partner violence perpetration by men attending substance misuse treatment in Catalunya: A mixed methods study.

BACKGROUND Prevalence of intimate partner violence perpetration is higher among male substance misusers than men in the general population. Previous studies have included few risk factors, limiting their capacity to inform interventions. AIM The aim of this study was to examine factors associated with intimate partner violence by male substance misusers. METHODS Two hundred and thirty-five men in treatment for substance misuse completed surveys that included the Revised Conflict Tactics Scale and the Psychological Maltreatment of Women Inventory (PMWI). Variables significant in bivariate analyses were entered into multiple logistic regression analyses. Seventeen in-depth interviews were conducted with perpetrators and analysed using a framework approach. RESULTS Just over a third of the men (34%) had been violent in the last year to their current/most recent partner. After excluding the men's own domestic victimisation from the multivariate model, perpetratation of such violence was significantly and independently associated with lower level of education, having higher PMWI dominance-isolation and emotional-verbal subscale scores and parents who had separated/divorced, and at a lower level of significance, childhood physical abuse, hazardous drinking and cocaine as the principal drug for which treatment was sought. Interview data suggested that perpetrators 'blamed' alcohol or cocaine use, jealousy, control and provocation or 'fighting back' for their behaviour. CONCLUSIONS Intimate partner violence is common among men attending substance misuse treatment. Integrated interventions should that address both intimate partner violence and substance misuse should be considered. Areas for intervention would include reducing dominating-isolating behaviours and emotional-verbal abuse, improving communication skills, challenging gender-specific roles and believing that substance use 'causes' violent behaviour.
Highly Accurate Synthesis of Fiber and Waveguide Bragg Gratings by an Impedance Reconstruction Layer-Aggregation Method

We present a novel method for the synthesis of complex fiber Bragg gratings (FBGs) which is based on an impedance reconstruction layer aggregation technique. The method takes as a starting point the accurate approximation of the sinusoidal perturbation (uniform or nonuniform) of the refractive index by local step functions by means of an inverse Fourier series relationship. This reduces the otherwise continuous scattering to only two points per local period and thus, the maximum spatial resolution as limited by the Nyquist criterion is achieved and there is no need to lump various periods of the FBG into an equivalent mirror. The main advantage brought by the method is the possibility of synthesizing structures containing defects or discontinuities of the size of the local period, a feature which yields different results with priorly reported methods to which the one reported here can be considered as complementary. In addition, this enhanced spatial resolution allows the synthesis of very strong FBG devices providing convergent solutions. We illustrate this fact by demonstrating the synthesis of a flat-top filter with a maximum reflectivity of 99.999%. The method renders directly the refractive index profile n(z) as it does not rely on the coupled mode theory since the grating is reconstructed using a V-I matrix formulation. The method is simple and its complexity is equivalent to those previously reported in the literature. Examples are given which prove that perfect reconstruction is achieved in both simple and complex grating profiles. Although a layer aggregation is presented here, the layer peeling (i.e., moving time frame) version of this algorithm is straightforward.
Salbutamol Modulates the Balance of Th1 and Th2 Cytokines by Mononuclear Cells from Allergic Asthmatics

Background: There is evidence that excessive use of inhalational β2-agonists induces the deterioration of asthma. Although the exact mechanism of this remains to be elucidated, overuse of β2-agonists may impair the Th1/Th2 balance in asthmatic airways. The aim of the present study was to evaluate whether salbutamol, a representative inhalational β2-agonist, modifies the production of Th1- and Th2-type cytokines by mononuclear cells separated from patients with asthma and healthy volunteers. Methods: Peripheral blood mononuclear cells (PBMCs) obtained from 8 healthy volunteers and 10 patients with mild persistent asthma allergic to house dust mites were treated with either salbutamol or medium alone. PBMCs were then stimulated with either medium alone, house dust mite (Dermatophagoides farina, Df) allergen or a combination of ionomycin plus phorbol 12-myristate 13-acetate ester (PMA). Concentrations of IFN-γ, IL-13, TNF-α and RANTES in the cell supernatants were measured using ELISA. Results: In PBMCs from healthy volunteers, salbutamol did not modify IFN-γ production, but increased the spontaneous production of IL-13. In contrast, salbutamol significantly inhibited the spontaneous and ionomycin- plus PMA-stimulated production of IFN-γ by PBMCs from asthmatics. Salbutamol significantly enhanced both spontaneous and Df-induced production of IL-13 by PBMCs from asthmatics. Salbutamol did not modify the production of TNF-α. Finally, salbutamol enhanced the production of RANTES induced by Df allergen in asthmatics. Conclusions: Salbutamol inhibits IFN-γ and enhances IL-13 production by PBMCs from asthmatics. These effects would promote a Th1/Th2 imbalance in the airways and may therefore contribute to the deterioration of asthma.
Betamethasone effects on umbilical arteries and ductus venosus Doppler velocity waveforms in growth-restricted fetuses

We studied intrauterine-growth-restricted (IUGR) fetuses with absent or reversed umbilical artery end-diastolic flow (EDF) velocity in order to evaluate the benefit of antenatal steroid therapy. Perinatal outcomes after betamethasone were evaluated where end diastolic flow returned (group I), compared with data from fetuses with persistent absent-reverse end diastolic(ARED) flow (group II). Objectives/methods: We recruited sixty-four IUGR fetuses, 28–32 weeks’ gestation, whose umbilical artery spectral tracings showed ARED flow and positive a-wave in the ductus venosus at admission. Results: Group I, 21 cases of restored EDF after betamethasone: Significant, persistent return of umbilical artery EDF flow and persistent ductus venosus a-wave were documented. Group II, 43 cases of persistent ARED flow: Persistent ARED flow in umbilical arteries and deterioration of ductus venosus waveform with significant, increasing pulsatility index and/or a-wave disappearance were documented. In group I, cardiotocographic alterations were delayed contrasted with group II, (p = 0.03). Neonatal complications in group II were eight cases of intraventricular hemorrhage; two cases of retinopathy of prematurity; three neonatal deaths, one fetal demise; and a higher incidence of neonatal respiratory distress syndrome. Conclusions: Betamethasone treatment may have beneficial effects on restoring end-diastolic umbilical artery velocimetry and precordial waveforms. These spectral Doppler changes are related to delayed cardiotocographic alterations and to better perinatal outcomes.
Clinical Factors affecting Minor Amputation in Diabetic Foot Disease at Tengku Ampuan Afzan Hospital, Kuantan.

BACKGROUND Diabetic foot disease poses a substantial problem in Malaysian diabetic population. We evaluate the clinical factors affecting minor amputation in diabetic foot disease. METHODS A cross-sectional study enrolling patients admitted to orthopaedic wards of a single tertiary hospital for diabetic foot disease was conducted. Patients who had undergone major amputation or with medical condition above the ankle joint were not included. Clinical data were collected by measurement of ankle brachial systolic index and Semmes-Weinstein 5.07 gauge monofilament test with foot clinical evaluation using King's classification respectively. RESULTS The total number of patients included was 138, with mean age of 59.7 years (range 29 to 94 years old). Fifty patients (36.2%) had minor amputations. Poor compliance to diabetic treatment, King's classification stage 5, low measures of ankle brachial systolic index, sensory neuropathy, high serum C-Reactive protein and high serum creatinine are significant predictive factors for minor amputation (P < 0.05). CONCLUSION Identifying these risk factors may help in prevention of minor amputation and subsequently reduce limb loss in diabetic foot.
Morphology of the Auditory Region in Paramys copei and Other Eocene Rodents from North America

Abstract The morphology of the external surface of the petrosal and its junction with the basioccipital in Paramys copei is described. Comparison with an outgroup of the Cretaceous Vincelestes and Recent Didelphis and Solenodon reveals that the auditory region retains many primitive features. The Eocene paramyines from North America show only slight differences. Sciuravus is set apart by the lack of a ventral petrosal sinus canal between the petrosal and basioccipital and by the facial nerve and stapedial artery sharing a common foramen in the petrosal. European theridomyids, too, are not as primitive as Paramys but share with it and Sciuravus a ridge on the promontorium that separates the transpromontorial continuation of the internal carotid artery from the origin of the tensor tympani muscle. Twelve characters of the auditory region are analyzed and summarized in a data matrix for use in future studies. Relative primitiveness of the auditory region in all of these Eocene rodents suggests that derived characters in later rodent taxa may represent intraordinal relationships but only homoplasy with nonrodents.
Identification of the direct regulon of NtcA during early acclimation to nitrogen starvation in the cyanobacterium Synechocystis sp. PCC 6803

Abstract In cyanobacteria, nitrogen homeostasis is maintained by an intricate regulatory network around transcription factor NtcA. Although mechanisms controlling NtcA activity appear to be well understood, its regulon remains poorly defined. To determine the NtcA regulon during the early stages of nitrogen starvation for the model cyanobacterium Synechocystis sp. PCC 6803, we performed chromatin immunoprecipitation, followed by sequencing (ChIP-seq), in parallel with transcriptome analysis (RNA-seq). Through combining these methods, we determined 51 genes activated and 28 repressed directly by NtcA. In addition to genes associated with nitrogen and carbon metabolism, a considerable number of genes without current functional annotation were among direct targets providing a rich reservoir for further studies. The NtcA regulon also included eight non-coding RNAs, of which Ncr1071, Syr6 and NsiR7 were experimentally validated, and their putative targets were computationally predicted. Surprisingly, we found substantial NtcA binding associated with delayed expression changes indicating that NtcA can reside in a poised state controlled by other factors. Indeed, a role of PipX as modulating factor in nitrogen regulation was confirmed for selected NtcA-targets. We suggest that the indicated poised state of NtcA enables a more differentiated response to nitrogen limitation and can be advantageous in native habitats of Synechocystis.