4-Phenylbutyric acid treatment rescues trafficking and processing of a mutant surfactant protein C

Mutations in the SFTPC gene, encoding surfactant protein–C (SP-C), are associated with interstitial lung disease (ILD). Knowledge of the intracellular fate of mutant SP-C is essential in the design of therapies to correct trafficking/processing of the proprotein, and to prevent the formation of cytotoxic aggregates. We assessed the potential of a chemical chaperone to correct the trafficking and processing of three disease-associated mutant SP-C proteins. HEK293 cells were stably transfected with wild-type (SP-C(WT)) or mutant (SP-C(L188Q), SP-C(Δexon4), or SP-C(I73T)) SP-C, and cell lines with a similar expression of SP-C mRNA were identified. The effects of the chemical chaperone 4-phenylbutyric acid (PBA) and lysosomotropic drugs on intracellular trafficking to the endolysosomal pathway and the subsequent conversion of SP-C proprotein to mature peptide were assessed. Despite comparable SP-C mRNA expression, proprotein concentrations varied greatly: SP-C(I73T) was more abundant than SP-C(WT) and was localized to the cell surface, whereas SP-C(Δexon4) was barely detectable. In contrast, SP-C(L188Q) and SP-C(WT) proprotein concentrations were comparable, and a small amount of SP-C(L188Q) was localized to the endolysosomal pathway. PBA treatment restored the trafficking and processing of SP-C(L188Q) to SP-C(WT) concentrations, but did not correct the mistrafficking of SP-C(I73T) or rescue SP-C(Δexon4). PBA treatment also promoted the aggregation of SP-C proproteins, including SP-C(L188Q). This study provides proof of the principle that a chemical chaperone can correct the mistrafficking and processing of a disease-associated mutant SP-C proprotein

Parasitic Appendicitis From Past to Present in Turkey

Background: Understanding the etiology of appendicitis is important for developing effective treatments the rela­tionship between parasitic appendicitis and various socio-cultural factors were examined, particu­larly with respect to the incidence of literacy. The aim of the article was to research the relations between para­sitic appendicitis and literacy ratio in population.Methods: Cases of parasitic appendicitis resulting in surgery performed at Buca Seyfi Demirsoy Large State Hospital Surgery Clinic between 2002 and 2009 were retrospectively reviewed and classified accord­ing to age, sex, type of parasite, morbidity, and mortality. Studies conducted in different regions of Turkey as well as in other countries were reviewed to determine if there was a relationship between para­sitic appendicitis and literacy. Results: Of the 1,969 appendectomy cases reviewed, nine were classified as parasitic appendicitis (0.45%). Enterobius vermicularis was observed in seven cases and Taenia spp. in two. The average age was 26.4 yr. No morbidity or mortality was found.Conclusion: The data were compared with a retrospective review of studies conducted in the same regions and a decrease in the rate of parasitic appendicitis was observed during the period between the two re­views. It was determined that a low literacy rate was associated with an increase in the incidence of para­sitic appendicitis. Observations made between different countries also produced similar results. In coun­tries where the incidence of parasitic appendiciticis was greater than 1.5%, the literacy rate was less than 88%. To avoid appendectomy resulting from parasites, it is important to increase education and literacy. In some areas, individuals with appendicitis undergo surgery due to a lack of education or poor literacy

Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen

The effectiveness of most cancer targeted therapies is short-lived. Tumors often develop resistance that might be overcome with drug combinations. However, the number of possible combinations is vast, necessitating data-driven approaches to find optimal patient-specific treatments. Here we report AstraZeneca's large drug combination dataset, consisting of 11,576 experiments from 910 combinations across 85 molecularly characterized cancer cell lines, and results of a DREAM Challenge to evaluate computational strategies for predicting synergistic drug pairs and biomarkers. 160 teams participated to provide a comprehensive methodological development and benchmarking. Winning methods incorporate prior knowledge of drug-target interactions. Synergy is predicted with an accuracy matching biological replicates for >60% of combinations. However, 20% of drug combinations are poorly predicted by all methods. Genomic rationale for synergy predictions are identified, including ADAM17 inhibitor antagonism when combined with PIK3CB/D inhibition contrasting to synergy when combined with other PI3K-pathway inhibitors in PIK3CA mutant cells

Post-traumatic and iatrogenic silent sinus syndrome:a case series

Objectives: Silent sinus syndrome (SSS) is a rare condition characterized by progressive maxillary sinus collapse, causing enophthalmos and hypoglobus without sinusitis symptoms. Secondary SSS arises from trauma or surgery disrupting mucociliary clearance. This study aims to analyze CT scan features, evaluate the timeline of SSS development, and identify contributing factors. Materials and methods: Patients diagnosed with secondary (post-traumatic or iatrogenic) SSS between January 2015 and January 2024 at the Erasmus Medical Center were reviewed. Characteristics from pre-SSS (T1) and post-SSS (T2) stages, management, and clinical outcomes were recorded. Data on patient demographics, symptoms, orthoptic findings, and the time interval between trauma or surgery and SSS onset were also collected. Results: Nine patients (six males and three females) met the inclusion criteria. The time from trauma or surgery to SSS onset ranged from one to thirty-six months, with a median of three months in the posttraumatic group. All patients presented with unilateral enophthalmos or hypoglobus; eight reported diplopia. Surgical management, including retrograde uncinectomy and orbital reconstruction, restored orbital anatomy and resolved symptoms. Conclusion: Secondary SSS is a rare but significant condition requiring early recognition to prevent severe cosmetic and functional complications. Clinical relevance: Secondary SSS should be considered when patients present with unexplained orbital changes following trauma or surgery. Regular follow-up is recommended, especially in patients with orbital trauma or surgery involving the inferomedial strut. Further studies are necessary to clarify risk factors associated with secondary SSS. Clinical trial number: Not applicable.</p

Effective mass of electron in monolayer graphene: Electron-phonon interaction

WOS: 000314724500045Shubnikov-de Haas (SdH) and Hall effect measurements performed in a temperature range between 1.8 and 275 K, at an electric field up to 35 kV m(-1) and magnetic fields up to 11 T, have been used to investigate the electronic transport properties of monolayer graphene on SiC substrate. The number of layers was determined by the use of the Raman spectroscopy. The carrier density and in-plane effective mass of electrons have been obtained from the periods and temperature dependencies of the amplitude of the SdH oscillations, respectively. The effective mass is in good agreement with the current results in the literature. The two-dimensional (2D) electron energy relaxations in monolayer graphene were also investigated experimentally. The electron temperature (T-e) of hot electrons was obtained from the lattice temperature (T-L) and the applied electric field dependencies of the amplitude of SdH oscillations. The experimental results for the electron temperature dependence of power loss indicate that the energy relaxation of electrons is due to acoustic phonon emission via mixed unscreened piezoelectric interaction and deformation-potential scatterin

Atribuciones causales y nivel educativo familiar en la comprensión del desempeño escolar en alumnos portugueses

Este artigo analisa o contributo específico do nível educativo familiar e das atribuições causais para o bom e fraco rendimento escolar dos alunos na explicação do seu desempenho nas disciplinas de Língua Portuguesa e de Matemática numa amostra de 2.082 alunos do ensino público de 11 escolas de Portugal, incluindo as Regiões Autónomas dos Açores e da Madeira. As atribuições causais foram avaliadas por meio do Questionário das Atribuições Causais para os Resultados Escolares (QARE). O nível educativo familiar foi estimado levando em conta o nível escolar do progenitor com maior habilitação escolar. As classificações obtidas pelos alunos nas disciplinas de língua portuguesa e matemática foram também examinadas. Os resultados apontam para correlações estatisticamente significativas, destacando as atribuições na capacidade para a explicação do rendimento escolar, situação que contrasta com a atribuição dos níveis de rendimento a variáveis externas ao aluno. A análise de regressão permite associar 34,5% da variância no rendimento conjunto em Língua Portuguesa e em Matemática no ensino básico, assim como 21,3% no ensino secundário, às dimensões atribucionais e ao nível educativo familiar. Implicações educacionais são derivadas a partir dos achados.This paper analyzes the contribution of both family educational level and causal attributions in explaining students´ academic performance in Mathematics and Portuguese Language in a sample of 2.082 public school students from mainland Portugal and the Azores and Madeira regions. Causal attributions were assessed by the Causal Attributions Questionnaire for School Results (QARE). The family educational level was estimated taking into account the educational level of the parent with higher academic degree. The academic grades obtained by students in mathematics and portuguese language were also considered. The results show statistically significant correlations between variables. Internal causal attributions such as capacity and study methods were predominant to explain school performance in the sample and stood out in contrast to external attributions explanations. Regression analyses revealed that 34.5% of the variance in the combined achievement on Portuguese Language and Mathematics in primary education and 21.3% in secondary education could be explained by both the attributional dimensions and family education level. Some educational implications are present taking these data.Este artículo analiza la contribución específica del nivel educativo familiar y de las atribuciones causales para el buen y el flaco rendimiento escolar de los alumnos en la explicación de su desempeño en las disciplinas de Lengua Portuguesa y Matemáticas en una muestra de 2.082 alumnos de enseñanza pública de 11 escuelas de Portugal, incluyendo las Regiones Autónomas de Açores y Madeira. Las atribuciones causales fueron evaluadas por medio del “Questionário das Atribuições Causais para os Resultados Escolares” (QARE). El nivel educativo familiar fue estimado teniendo en cuenta el nivel escolar del progenitor con mayor habilitación escolar. Las clasificaciones obtenidas por los alumnos en las disciplinas de lengua portuguesa y matemáticas fueron también examinadas. Los resultados señalaron correlaciones estadísticamente significativas, destacando las atribuciones en la capacidad para la explicación del rendimiento escolar, situación que contrasta con la atribución de los niveles de rendimiento a variables externas al alumno. El análisis de regresión permite asociar 34.5% de la variancia en el rendimiento conjunto de la Lengua Portuguesa y las Matemáticas en la enseñanza básica, así como 21.3% en la enseñanza secundaria, a las dimensiones de atribución y al nivel educativo familiar. Implicaciones educacionales son derivadas a partir de los hallazgos.Editora Universitária São Francisc

Correction to:Electro-optic sensor for static fields (vol 125, pg 212, 2019)

The article “Electro-optic sensor for static fields”, written by “J. O. Grasdijk, X. F. Bai, I. Engin, K. Jungmann, H. J. Krause, B. Niederländer, A. Off enhäuser, M. Repetto, L. Willmann, S. Zimmer”, was published incorrectly with Open Access under the terms of the Creative Commons Attribution Noncommercial 4.0 International License. Correct is that the article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creat iveco mmons .org/licen ses/by/4.0/), which permits use, duplication, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The original article has been corrected.</p

Subcutaneous hydatid cysts occurring in the palm and the thigh: two case reports

<p>Abstract</p> <p>Introduction</p> <p>Hydatid cyst disease is common in some regions of the world and is usually located in the liver and lungs. This report presents two cases of primary hydatid cysts located subcutaneously: one in the medial thigh and one in the left palm between the index and middle fingers.</p> <p>Case presentations</p> <p>A 64-year-old male farmer visited our hospital because a swelling on the right medial thigh had grown during the last year. Superficial ultrasound and computed tomography revealed a lesion resembling a hydatid cyst. A germinative membrane was encountered during surgical excision. Pathological examination was compatible with a hydatid cyst. The second case involved a 67-year-old male farmer who complained of a swelling that had grown in his left palm in the last year. The preliminary diagnosis was a lipoma. However, a hydatid cyst was diagnosed during surgical excision and after the pathological examination. The patient did not have a history of hydatid cyst disease and hydatid cysts were not detected in other organs. There has been no disease recurrence after following both patients for 3 years.</p> <p>Conclusion</p> <p>A hydatid cyst should be considered in the differential diagnosis of subcutaneous cystic lesions in regions where hydatid cysts are endemic, and should be excised totally, with an intact wall, to avoid recurrence.</p