Factor X + Factor IX (Factor X P Behring)

RNA sequencing resolves a novel noncanonical splice-region variant in PHKA2 causing glycogen storage disease type IX α2: a case report.

Chen Fan F, He Jiayi J, Cheng Henghui H, Shu Sainan S

Glycogen storage disease type IX α2 (GSD IX α2) is an X-linked hepatic glycogenosis caused by pathogenic variants in PHKA2. Noncanonical splice-region variants located outside the invariant GT/AG dinucleotides pose significant interpretive challenges, as in silico predictions alone are often insufficient for definitive classification. We report a 2.9-year-old boy presenting with short stature, hepatomegaly, markedly elevated aminotransferases, fasting hypoglycemia with ketonuria, hypercholesterolemia, coagulation parameter abnormalities (decreased fibrinogen and prolonged thrombin time), and histological evidence of early hepatic fibrosis as demonstrated by Masson's trichrome staining (portal fibrosis and perisinusoidal fibrosis). Whole-exome sequencing (WES) identified a hemizygous, previously unreported PHKA2 variant [NM_000292.3:c.2517+5G>T, genomic location (GRCh38): NC_000023.11: g.18907895G>T], initially classified as a variant of uncertain significance (VUS) under American College of Medical Genetics and Genomics (ACMG) criteria. RNA sequencing of peripheral blood leukocytes demonstrated predominant exon 22 skipping in 94.2% of informative junction reads, predicting a frameshift and premature termination codon [p.(Gly788Profs*74)] with predicted loss of the C-terminal CBL 2 subdomain. Incorporating this transcript-level evidence, the variant was reclassified as pathogenic (PVS1 + PM2_Supporting + PP4). Following dietary management with uncooked cornstarch supplementation, the patient showed progressive biochemical improvement over a 2.2-year follow-up. This case expands the mutational spectrum of PHKA2 and demonstrates that RNA sequencing of accessible tissues is a practical and diagnostically informative strategy for resolving noncanonical splice-region variants in pediatric hepatic GSD. Early hepatic fibrosis detected by histological examination before age 3 years underscores the importance of longitudinal hepatic surveillance in GSD IX α2.

Turkish adaptation and psychometric validation of the Normative Male Alexithymia Scale-Brief Form (NMAS-BF) among male university students.

Özel İrem İ

Normative male alexithymia reflects masculinity-related difficulties in identifying and expressing emotions and is theoretically linked to restrictive emotionality within masculine socialization. Existing measures predominantly assess clinical levels of alexithymia and may fail to capture subclinical, culturally embedded patterns of emotional restriction associated with masculine socialization. This study aimed to adapt the Normative Male Alexithymia Scale-Brief Form (NMAS-BF) to Turkish language and culture and to evaluate its psychometric properties. A methodological study was conducted with Turkish male university students. Linguistic equivalence was examined in a bilingual sample (n = 46), followed by a pilot study (n = 30). Separate non-overlapping samples were used for exploratory factor analysis (n = 376) and confirmatory factor analysis (n = 376) to assess structural validity. Exploratory factor analysis was conducted using principal axis factoring. Internal consistency was evaluated using Cronbach's alpha, corrected item-total correlations, and alpha-if-item-deleted values. The Turkish version of the NMAS-BF demonstrated high internal consistency (α = 0.890), with corrected item-total correlations ranging from 0.617 to 0.770. Exploratory factor analysis using principal axis factoring supported a single-factor structure explaining approximately 58.09% of the common variance. Confirmatory factor analysis indicated good model fit for the one-factor model, χ2(9) = 20.66, χ2/df = 2.30, RMSEA = 0.059, CFI = 0.99, TLI/NNFI = 0.99, SRMR = 0.025, and GFI = 0.98. The findings provide initial evidence for the internal consistency and structural validity of the Turkish NMAS-BF among Turkish male university students. Beyond its psychometric properties, the scale provides a culturally adapted tool for examining masculinity-related emotional restriction within the context of Turkish masculine socialization. Future studies may use the Turkish NMAS-BF to investigate associations between emotional restriction, emotional awareness, emotional expression, and psychological functioning among more diverse samples of Turkish men.

Baicalin alleviates Trueperella pyogenes-induced endometritis with associated changes in gut microbiota composition.

Peng Ziqi Z, Gou Chunyang C, Guan Yisong Y, Wang Yueting Y et al.

Endometritis is a prevalent reproductive disorder in livestock characterized by inflammation, oxidative stress, and microbial imbalance; however, the mechanistic links among these processes remain incompletely understood. This study investigated the protective effects of baicalin in a Trueperella pyogenes (T. pyogenes)-induced mouse model of endometritis by integrating network pharmacology, in vivo validation, and gut microbiota profiling. Network pharmacology analysis identified prostaglandin-endoperoxide synthase 2 (PTGS2, also known as cyclooxygenase-2, COX-2) and epidermal growth factor receptor (EGFR) as key targets of baicalin, with enrichment in arachidonic acid metabolism pathways. Baicalin treatment alleviated uterine pathology and suppressed inflammatory responses, as indicated by reduced tumor necrosis factor-alpha (TNF-α), interleukin-1 beta (IL-1β), interleukin-6 (IL-6), and myeloperoxidase (MPO) activity. Baicalin also restored redox homeostasis by activating the Nrf2/Keap1/HO-1 pathway, increasing catalase (CAT) and superoxide dismutase (SOD) activities while decreasing malondialdehyde (MDA) levels, and concurrently reduced apoptosis, as evidenced by a lower ratio of Bcl-2-associated X protein (Bax) to B-cell lymphoma 2 (Bcl-2) (the Bax/Bcl-2 ratio). Concurrently, 16 S rRNA gene sequencing revealed that baicalin treatment was associated with alterations in gut microbiota composition, including changes in the relative abundance of several bacterial taxa linked to inflammation and metabolic functions. However, whether these microbial changes play a causal role in the observed protection remains to be determined. These findings indicate that baicalin protects against endometritis through coordinated regulation of inflammation, oxidative stress, and apoptosis, and this protection was associated with shifts in gut microbiota composition. The results provide insight into the host-microbiota interactions accompanying endometritis and support baicalin as a potential therapeutic candidate, while highlighting the need for further causal investigations.

Nodule Morphology: A General Prognostic Factor or Treatment Strategy-Related Heterogeneity in Treatment Response?

Ni Handan H