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The primary hyperoxalurias are rare disorders of glyoxylate metabolism. Accurate diagnosis is essential for therapeutic and management strategies. We conducted a molecular study on patients suffering from recurrent calcium‐oxalate stones and nephrocalcinosis and screened primary hyperoxaluria causing genes in a large cohort of early‐onset cases. Disease‐associated pathogenic‐variants were defined as missense, nonsense, frameshift‐indels, and splice‐site variants with a reported minor allele frequency <1% in controls. We found pathogenic‐variants in 34% of the cases. Variants in the AGXT gene causing PH‐I were identified in 81% of the mutation positive cases. PH‐II‐associated variants in the GRHPR gene are found in 15% of the pediatric PH‐positive population. Only 3% of the PH‐positive cases have pathogenic‐variants in the HOGA1 gene, responsible to cause PH‐III. A population‐specific AGXT gene variant c.1049G>A; p.Gly350Asp accounts for 22% of the PH‐I‐positive patients. Pathogenicity of the identified variants was evaluated by in‐silico tools and ACMG guidelines. We have devised a rapid and low‐cost approach for the screening of PH by using targeted‐NGS highlighting the importance of an accurate and cost‐effective screening platform. This is the largest study in Pakistani pediatric patients from South‐Asian region that also expands the mutation spectrum of the three known genes. [ABSTRACT FROM AUTHOR]

Case is a morphological realization on a noun phrase (NP) to represent the NP's grammatical relationship with the main verb of the clause. With respect to case, languages, in many cases, can be broadly divided into two alignment systems, i.e., ergative-absolutive and nominativeaccusative. In the former type of languages, e.g., Punjabi, the subjects usually receive an ergative post position in transitive clauses (with perfective aspect) while in the latter type of languages, e.g., English, the subject, i.e., in nominative case receives, no post position. There has been a widespread controversy on whether ergative is a structural case or a lexical/inherent case and how the arguments are, i.e., subject and objects valued case in case of ergative clauses. With this ongoing debate in the background, this study aims to compare the marking of case on the arguments, i.e., subjects and objects in the transitive clauses of English and Punjabi. The study is conducted under the minimalist framework of Chomsky (2008), who emphasized on Strong Minimalist Thesis (SMT): language provides the best possible solution to the interface conditions imposed by other systems of the human mind, i.e., related to meaning and sound, which interact with language through their interfaces Conceptual Intentional (C-I) and Sensori-Motor (SM) respectively. In this framework, a feature valuation mechanism is induced by the probes, i.e., C and v*. The study finds that in split ergative languages (the languages which take both case patterns, i.e., nominative and ergative) like Punjabi, the EA, i.e., subjects of perfective transitive clauses are assigned the ergative case by the functional heads v* at [Spec-v*] while the IA, i.e., objects are valued accusative case by the same functional head v* under Agree operation. A consequence of this finding concludes that T has default agreement in such languages, which is possible because Punjabi (like its other South Asian counterparts, e.g., Urdu-Hindi, Bengali, and Kashmiri) is a pro-drop language. So, it is easy to assume that EPP and Agree features of T are an option. [ABSTRACT FROM AUTHOR]

Chomsky’s Theory of Universal Grammar incorporates some universal principles for grammatical description of all possible human languages. As all the aspects of human languages may not be universal, this theory also set some parameters along which languages may vary from one another. Among other criteria of adequacy, it is a prerequisite for Universal Grammar that it must provide minimal (as simple as possible) theoretical and descriptive apparatus for all human I-languages. This criterion was fulfilled by introduction of minimalist program. Utilizing minimalist apparatus for syntactic description, this research aimed to compare the construction of maximal TP (Tense Phrase) projections in Punjabi and English. It applied three principles of Universal Grammar i.e. Headedness Principle, Binarity Principle and Extended Projection Principle (EPP) for minimalist description of selected clause structures of Punjabi and English language. The analysis demonstrated that Punjabi is a head last language while English is a head first language; Punjabi interrogative clauses cause no movement operation, but in English questions, movement of wh- expression or auxiliaries take place. However, both the languages follow Universal Grammar principles. [ABSTRACT FROM AUTHOR]

Language is a dynamic phenomenon which not only manifests changes in society but also contributes to such changes. The use of non discriminatory language is part of the dynamic process and an ideal yet to be achieved but our current use of language reflects a patriarchal world. The present work attempts to analyze the written passages of the BS level students of University of Sargodha with particular reference to linguistic sexism. It aims to expose the use of sex biased and discriminatory terms by the students in their written work. The study particularly focuses on the usage of gender exclusive pronouns in the written tasks. The theoretical framework for this research has been derived from Anne Pauwels who conducted a research on Australian academics and educators in 2000. Seventy-two students participated in the study. Both quantitative and qualitative data methods were used for the analysis of the pronouns used by the student. The results showed that the students used high level of linguistic sexism in their written passage; they were least aware of the renderings of Feminist Linguistic Reform that suggests the use of gender inclusive or non-bias terms; and males were the norm makers and language regulators while females had accepted their hegemony. [ABSTRACT FROM AUTHOR]

Background: CCL2 is a chemoattractant for monocytes/macrophages, T cells, and natural killer cells. It is shown to be involved in the immunological responses against renal allograft. This study was conducted to access the role of urinary CCL2 expression in predicting the rejection episodes in renal transplant patients. Method: A total of 409 urine samples included in this study. The samples were consisted of (a) biopsy-proven graft rejection (n= 165); (b) non-rejection (n= 93); (c) non-biopsy stable-graft (n= 42), and (d) healthy renal donors (n= 109). The samples were quantified for the CCL2 using the MCP-1/CCL2 ELISA kit. The data were analyzed using the Statistical Package for Social Sciences (SPSS®) and MedCalc®statistical software. Results: Results showed that the CCL2 levels were significantly increased in rejection group when compared with the non-rejection, stable-graft, and control,P< 0.05. The receiver operating curve’s characteristics illustrated that the urinary CCL2 level is a good predictor for graft rejection, with an area under the curve of 0.81 ± 0.03 with optimum sensitivity and specificity of 87% and 62%, respectively, at a cut-off value of 198 pg/mL. Kaplan–Meier curve also showed better cumulative rejection-free graft survival time in group with less than 198 pg/mL of CCL2 as compared to those with expression levels of more than 198 pg/mL (30 weeks vs. 3 weeks; log-rank test,P< 0.001). Conclusion: In our study, noninvasive investigation of CCL2 levels in urine has showed potential to predict rejection episodes. It is suggested that the CCL2, with others markers, may help in early detection and monitoring of graft rejection episodes. [ABSTRACT FROM PUBLISHER]