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The BRAT1 gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of BRAT1-related disorders is highlighted, emphasizing the importance of considering this condition in the differential diagnosis of neurodevelopmental disorders. This study aimed to identify a causative variant in an Iranian patient affected by developmental delay, speech delay, seizure, and clubfoot through whole exome sequencing (WES) followed by Sanger sequencing. The WES revealed a novel biallelic variant of the BRAT1, c.398A>G (p.His133Arg), in the patient, which segregated within the family. A literature review suggests that the phenotypic variability associated with BRAT1 mutations is likely due to multiple factors, including the location and type of mutation, the specific functions of the protein, and the influence of other genetic and environmental factors. The phenotypic variability of BRAT1-related disorders underscores the importance of considering BRAT1-related disorders in the differential diagnosis of epileptic encephalopathy with rigidity. These findings provide important insights into the role of BRAT1 in neurodevelopmental disorders and highlight the potential clinical implications of identifying and characterizing novel variants in this gene.
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BACKGROUND: Juvenile idiopathic recurrent parotitis (JIRP) in children is a condition characterized with recurrent episodes of idiopathic parotid gland inflammation. Since there are no definitive guidelines for diagnosis and management of this condition, we present a consecutive case series of patients with more than one decade follow up and their dramatic response to short course treatment by prednisolone. METHODS: We conducted this study by retrospectively reviewed medical charts of children who were diagnosed with JIRP, from 1 January 2002 to 29 February 2023. We performed usual serological tests to exclude some possible background. We administered short course prednisolone on first day of episode as divided dosage (0.5 mg /kg). RESULTS: In this case series of 10 patients (70%) were male, median age of onset was 5 years, duration of episodes 5 days, and the mean course of disease were 3.8 years. The average follows up of patients was near 10 years. In comparison with their natural course of disease all patients showed a dramatic response to treatment on the first day of administration of prednisolone (P Value 0.005). For ten years follow up there was not any additional accompanying autoimmune disorder. CONCLUSION: Short course prednisolone on first day of each episode and its dramatic and meaningful response in our patients, introduce a new, effective, fast, and inexpensive regimen of therapy in patients with JIRP.
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Parotiditis , Niño , Humanos , Masculino , Preescolar , Femenino , Estudios Retrospectivos , Parotiditis/diagnóstico , Parotiditis/tratamiento farmacológico , Estudios de Seguimiento , Esteroides , Prednisolona/uso terapéutico , RecurrenciaRESUMEN
Lymphatic malformations (LM) refer to very rare hamartomatous benign lymphatic ectasias with an incidence of 1:250 000. They almost involve children more than adults, and among them, infants under one age are mostly affected. Macrocytic LM is found to be more than 2 cm in diameter or 2×2 cm2 in volume. The proper treatment for mesenteric LM is complete surgical excision unless there is vital structure involvement. Case presentation: The authors report a mesenteric macrocytic LM in a 2-year-old girl complaining of vague abdominal discomfort and persistent vomiting in which ultrasonography revealed a cystic masse with seromucous components. She then underwent exploratory laparotomy. The operation and the follow-up duration were uneventful. Discussion: LMs are rare benign lesions of vascular origin with lymphatic differentiation, according to the latest International Society for the Study of Vascular Anomalies (ISSVA 2018). Under light microscopy, these malformations are characterized by their thin-walled endothelium and lymphatic tissue.These mobile lesions are incidentally found or appear with intestinal obstruction or acute abdomen scenarios. Conclusion: Although benign, the LMs have the potential for invasion and recurrence. Thus, the examiner physician must keep such intra-abdominal lesions in mind.
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Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A> T variant (p. K306 *) in exon 5 of the SLC3A1 gene. This variant results in the NMD phenomenon in which the protein product is not produced because of mRNA destruction. In 2020, blood sample of a 41-yr-old man from east Azerbaijan, Iran together with his parents were collected to be studied. PCR and direct sequencing were performed to detect the possible SLC3A1 variant. Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. Parental Sequence Analysis shows that they are heterozygous. According to ACMG guideline, this variant is considered as pathogen. Finding serious mutations can allow rapid screening for cystinuria by analyzing common mutations. It should also be considered as a pathogenic variant in patients' cystinuria.
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Biomass burning (BB) aerosol events were characterized over the U.S. East Coast and Bermuda over the western North Atlantic Ocean (WNAO) between 2005 and 2018 using a combination of ground-based observations, satellite data, and model outputs. Days with BB influence in an atmospheric column (BB days) were identified using criteria biased toward larger fire events based on anomalously high AERONET aerosol optical depth (AOD) and MERRA-2 black carbon (BC) column density. BB days are present year-round with more in June-August (JJA) over the northern part of the East Coast, in contrast to more frequent events in March-May (MAM) over the southeast U.S. and Bermuda. BB source regions in MAM are southern Mexico and by the Yucatan, Central America, and the southeast U.S. JJA source regions are western parts of North America. Less than half of the BB days coincide with anomalously high PM2.5 levels in the surface layer, according to data from 14 IMPROVE sites over the East Coast. Profiles of aerosol extinction suggest that BB particles can be found in the boundary layer and into the upper troposphere with the potential to interact with clouds. Higher cloud drop number concentration and lower drop effective radius are observed during BB days. In addition, lower liquid water path is found during these days, especially when BB particles are present in the boundary layer. While patterns are suggestive of cloud-BB aerosol interactions over the East Coast and the WNAO, additional studies are needed for confirmation.
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Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.
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The Western North Atlantic Ocean (WNAO) and adjoining East Coast of North America are of great importance for atmospheric research and have been extensively studied for several decades. This broad region exhibits complex meteorological features and a wide range of conditions associated with gas and particulate species from many sources regionally and other continents. As Part 1 of a 2-part paper series, this work characterizes quantities associated with atmospheric chemistry, including gases, aerosols, and wet deposition, by analyzing available satellite observations, ground-based data, model simulations, and reanalysis products. Part 2 provides insight into the atmospheric circulation, boundary layer variability, three-dimensional cloud structure, properties, and precipitation over the WNAO domain. Key results include spatial and seasonal differences in composition along the North American East Coast and over the WNAO associated with varying sources of smoke and dust and meteorological drivers such as temperature, moisture, and precipitation. Spatial and seasonal variations of tropospheric carbon monoxide and ozone highlight different pathways toward the accumulation of these species in the troposphere. Spatial distributions of speciated aerosol optical depth and vertical profiles of aerosol mass mixing ratios show a clear seasonal cycle highlighting the influence of different sources in addition to the impact of intercontinental transport. Analysis of long-term climate model simulations of aerosol species and satellite observations of carbon monoxide confirm that there has been a significant decline in recent decades among anthropogenic constituents owing to regulatory activities.
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Background: In animal models of inflammatory diseases, Mammalian sterile 20-like kinase 1 (Mst1) facilitates the programmed cell death as a novel pro-apoptotic kinase. This research aimed to determine the expression level of Mst1 gene in a rat model of SCI treated with valproic acid (VPA). Methods: Severe rat model contusion was used for evaluation of the neuroprotective effect of valproic acid. The Basso-Beattie-Bresnahan test, was performed to determine locomotor functions. Hematoxylin/eosin staining and TUNEL assay were performed to detect cavity formation and apoptosis, respectively. The mRNA levels of the genes Mst1, nuclear factor (erythroid-derived 2)-like 2, and B-cell lymphoma 2 were evaluated, using quantitative real-time PCR acute spinal cord injury (RT-PCR). Results: The results revealed that Mst1 gene expression and TUNEL-positive cells in the VPA-treated group were significantly reduced as compared to the untreated group (p ≤ 0.05). Conclusion: Our findings indicate that VPA has therapeutic potential and can be a candidate for the treatment of neurodegenerative disorders and traumatic injury as a promising drug.
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Locomoción/efectos de los fármacos , Factor 2 Relacionado con NF-E2/biosíntesis , Proteínas Serina-Treonina Quinasas/biosíntesis , Proteínas Proto-Oncogénicas c-bcl-2/biosíntesis , Traumatismos de la Médula Espinal/metabolismo , Ácido Valproico/farmacología , Animales , Femenino , Expresión Génica , Locomoción/fisiología , Factor 2 Relacionado con NF-E2/genética , Proteínas Serina-Treonina Quinasas/genética , Proteínas Proto-Oncogénicas c-bcl-2/genética , Ratas , Ratas Wistar , Traumatismos de la Médula Espinal/tratamiento farmacológico , Traumatismos de la Médula Espinal/genética , Ácido Valproico/uso terapéuticoRESUMEN
Aerosol-cloud interactions are the largest source of uncertainty in quantifying anthropogenic radiative forcing. The large uncertainty is, in part, due to the difficulty of predicting cloud microphysical parameters, such as the cloud droplet number concentration (N d). Even though rigorous first-principle approaches exist to calculate N d, the cloud and aerosol research community also relies on empirical approaches such as relating N d to aerosol mass concentration. Here we analyze relationships between N d and cloud water chemical composition, in addition to the effect of environmental factors on the degree of the relationships. Warm, marine, stratocumulus clouds off the California coast were sampled throughout four summer campaigns between 2011 and 2016. A total of 385 cloud water samples were collected and analyzed for 80 chemical species. Single- and multispecies log-log linear regressions were performed to predict N d using chemical composition. Single-species regressions reveal that the species that best predicts N d is total sulfate ( R adj 2 = 0.40 ). Multispecies regressions reveal that adding more species does not necessarily produce a better model, as six or more species yield regressions that are statistically insignificant. A commonality among the multispecies regressions that produce the highest correlation with N d was that most included sulfate (either total or non-sea-salt), an ocean emissions tracer (such as sodium), and an organic tracer (such as oxalate). Binning the data according to turbulence, smoke influence, and in-cloud height allowed for examination of the effect of these environmental factors on the composition-N d correlation. Accounting for turbulence, quantified as the standard deviation of vertical wind speed, showed that the correlation between N d with both total sulfate and sodium increased at higher turbulence conditions, consistent with turbulence promoting the mixing between ocean surface and cloud base. Considering the influence of smoke significantly improved the correlation with N d for two biomass burning tracer species in the study region, specifically oxalate and iron. When binning by in-cloud height, non-sea-salt sulfate and sodium correlated best with N d at cloud top, whereas iron and oxalate correlated best with N d at cloud base.
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The MONterey Aerosol Research Campaign (MONARC) in May-June 2019 featured 14 repeated identical flights off the California coast over the open ocean at the same time each flight day. The objective of this study is to use MONARC data along with machine learning analysis to evaluate relationships between both supermicrometer sea salt aerosol number (N>1) and volume (V>1) concentrations and wind speed, wind direction, sea surface temperature (SST), ambient temperature (Tamb), turbulent kinetic energy (TKE), relative humidity (RH), marine boundary layer (MBL) depth, and drizzle rate. Selected findings from this study include the following: (i) Near surface (<60 m) N>1 and V>1 concentration ranges were 0.1-4.6 cm-3 and 0.3-28.2 µm3 cm-3, respectively; (ii) four meteorological regimes were identified during MONARC with each resulting in different N>1 and V>1 concentrations and also varying horizontal and vertical profiles; (iii) the relative predictive strength of the MBL properties varies depending on predicting N>1 or V>1, with MBL depth being more highly ranked for predicting N>1 and with TKE being higher for predicting V>1; (iv) MBL depths >400 m (<200 m) often correspond to lower (higher) N>1 and V>1 concentrations; (v) enhanced drizzle rates coincide with reduced N>1 and V>1 concentrations; (vi) N>1 and V>1 concentrations exhibit an overall negative relationship with SST and RH and an overall positive relationship with Tamb; and (vii) wind speed and direction were relatively weak predictors of N>1 and V>1.
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Decades of atmospheric research have focused on the Western North Atlantic Ocean (WNAO) region because of its unique location that offers accessibility for airborne and ship measurements, gradients in important atmospheric parameters, and a range of meteorological regimes leading to diverse conditions that are poorly understood. This work reviews these scientific investigations for the WNAO region, including the East Coast of North America and the island of Bermuda. Over 50 field campaigns and long-term monitoring programs, in addition to 715 peer-reviewed publications between 1946 and 2019 have provided a firm foundation of knowledge for these areas. Of particular importance in this region has been extensive work at the island of Bermuda that is host to important time series records of oceanic and atmospheric variables. Our review categorizes WNAO atmospheric research into eight major categories, with some studies fitting into multiple categories (relative %): Aerosols (25%), Gases (24%), Development/Validation of Techniques, Models, and Retrievals (18%), Meteorology and Transport (9%), Air-Sea Interactions (8%), Clouds/Storms (8%), Atmospheric Deposition (7%), and Aerosol-Cloud Interactions (2%). Recommendations for future research are provided in the categories highlighted above.
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This study reports on airborne measurements of stratocumulus cloud properties under varying degrees of influence from biomass burning (BB) plumes off the California coast. Data are reported from five total airborne campaigns based in Marina, California, with two of them including influence from wildfires in different areas along the coast of the western United States. The results indicate that subcloud cloud condensation nuclei number concentration and mass concentrations of important aerosol species (organics, sulfate, nitrate) were better correlated with cloud droplet number concentration (N d) as compared to respective above-cloud aerosol data. Given that the majority of BB particles resided above cloud tops, this is an important consideration for future work in the region as the data indicate that the subcloud BB particles likely were entrained from the free troposphere. Lower cloud condensation nuclei activation fractions were observed for BB-impacted clouds as compared to non-BB clouds due, at least partly, to less hygroscopic aerosols. Relationships between N d and either droplet effective radius or drizzle rate are preserved regardless of BB influence, indicative of how parameterizations can exhibit consistent skill for varying degrees of BB influence as long as N d is known. Lastly, the composition of both droplet residual particles and cloud water changed significantly when clouds were impacted by BB plumes, with differences observed for different fire sources stemming largely from effects of plume aging time and dust influence.
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Lake Urmia (LU) once was the second largest hypersaline lake in the world, covering up to 6000km2, but has undergone catastrophic desiccation in recent years resulting in loss of 90% of its area and extensive coverage by playas and marshlands that represent a source of salt and dust. This study examines daily Aerosol Optical Depth (AOD) data from the Moderate Resolution Imaging Spectroradiometer (MODIS) between 2001 and 2015 over northwestern Iran, which encompasses LU. Intriguingly, salt emissions from the LU surface associated with ongoing desiccation do not drive the study region's AOD profile, whereas pollution transported from other regions and emissions around LU are more important. Signatures of increasing local crustal emissions are most evident outside of the peak dust season (January, February, and October) and on the periphery of LU. AOD has generally increased in the latter half of the study period with the onset of the AOD ramp-up starting a month earlier in the spring season when comparing 2009-2015 versus earlier years. Results indicate that suppression of emissions on the LU border is critical as the combined area of salt and salty soil bodies around LU have increased by two orders of magnitude in the past two decades, and disturbing these areas via activities such as grazing and salt harvesting on the lake surface can have more detrimental impacts on regional pollution as compared to benefits. These results have important implications for public health, climate, the hydrological cycle, and pollution control efforts.
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This study examines major wildfires in the western United States between 2005 and 2015 to determine which species exhibit the highest percent change in mass concentration on day of peak fire influence relative to preceding nonfire days. Forty-one fires were examined using the Environmental Protection Agency (EPA) Interagency Monitoring of Protected Visual Environments (IMPROVE) data set. Organic carbon (OC) and elemental carbon (EC) constituents exhibited the highest percent change increase. The sharpest enhancements were for the volatile (OC1) and semivolatile (OC2) OC fractions, suggestive of secondary organic aerosol formation during plume transport. Of the noncarbonaceous constituents, Cl, P, K, NO3-, and Zn levels exhibited the highest percent change. Dust was significantly enhanced in wildfire plumes, based on significant enhancements in fine soil components (i.e., Si, Ca, Al, Fe, and Ti) and PMcoarse (i.e., PM10-PM2.5). A case study emphasized how transport of wildfire plumes significantly impacted downwind states, with higher levels of fine soil and PMcoarse at the downwind state (Arizona) as compared to the source of the fires (California). A global model (Navy Aerosol Analysis and Prediction System, NAAPS) did not capture the dust influence over California or Arizona during this case event because it is not designed to resolve dust dynamics in fires, which motivates improved treatment of such processes. Significant chloride depletion was observed on the peak EC day for almost a half of the fires examined. Size-resolved measurements during two specific fires at a coastal California site revealed significant chloride reductions for particle aerodynamic diameters between 1 and 10 µm.
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This work examines particulate chloride (Cl-) and bromide (Br-) depletion in marine aerosol particles influenced by wildfires at a coastal California site in the summers of 2013 and 2016. Chloride exhibited a dominant coarse mode due to sea salt influence, with substantially diminished concentrations during fire periods as compared to nonfire periods. Bromide exhibited a peak in the submicrometer range during fire and nonfire periods, with an additional supermicrometer peak in the latter periods. Chloride and Br- depletions were enhanced during fire periods as compared to nonfire periods. The highest observed %Cl- depletion occurred in the submicrometer range, with maximum values of 98.9% (0.32-0.56 µm) and 85.6% (0.56-1 µm) during fire and nonfire periods, respectively. The highest %Br- depletion occurred in the supermicrometer range during fire and nonfire periods with peak depletion between 1.8-3.2 µm (78.8% and 58.6%, respectively). When accounting for the neutralization of sulfate by ammonium, organic acid particles showed the greatest influence on Cl- depletion in the submicrometer range. These results have implications for aerosol hygroscopicity and radiative forcing in areas with wildfire influence owing to depletion effects on composition.