Search Results (452)

Hairless canary seed (Phalaris canariensis L.) can play significant roles in human health and nutrition due to its unique nutrient profile. It belongs to the Gramineae family similar to common cereal grains like wheat, rice and corn. On the other hand, the traditional canary seed is characterized by the presence of silicified spicules or hairs on the hulls of the kernel that could pose health hazards to humans. The hairless canary seed was developed in Canada by a conventional breeding program to mitigate the health concerns associated with the silicified hairs. The hairless grain is silica free, i.e., totally glabrous, and is granted regulatory food approvals by Health Canada and US-FDA. The hairless grain holds a great potential as a whole grain functional food ingredient due to its unique nutritional and functional attributes. As a cereal grain, it is rich in protein that is non-gluten and exceptionally high in tryptophan and bioactive peptides. The grain also contains reasonable amounts of carotenoids, polyphenols, and healthy unsaturated oil. Because of these special characteristics, it is considered a promising nutritious and therapeutic food. This review provides insights into the potential of hairless canary seed as a functional ingredient in products designed to mitigate oxidative stress, diabetes and celiac disease and/or to improve vision and cognition. Full article

Background/Objectives: Bullous congenital ichthyosiform erythroderma (BCIE) is an inherited keratinization disorder caused by pathogenic variants in specific genes. Here, we report a pair of half-siblings with BCIE and tinea capitis due to Trichophyton rubrum (T. rubrum) and then review the species of ichthyosis previously reported with T. rubrum infection. Methods: We performed dermatological examination, fungal culture, and genetic analysis using whole-exome sequencing (WES) and blocker displacement amplification (BDA)-based Sanger sequencing. Both patients received oral terbinafine once daily and topical bifonazole gel for tinea capitis. Results: The pair of half-siblings had exhibited generalized scaling and hyperkeratosis since birth. Both siblings subsequently developed scalp pustules and hair loss for several months. Genetic analysis identified a pathogenic variant in the keratin 10 (KRT10) gene, confirming BCIE diagnosis. Additionally, fungal culture revealed T. rubrum infection. The patients responded positively to oral terbinafine antifungal treatment. Conclusions: This case highlights the potential susceptibility of patients with BCIE to fungal infections, warranting clinical vigilance. Furthermore, it demonstrates the utility of the BDA-based mutation detection method for diagnosing BCIE, suggesting its promise for advancing personalized diagnosis and management in hereditary skin diseases. Full article

Genome-wide paternal uniparental isodisomy mosaicism (GWpUPIDM) is an extremely rare condition characterized by varying proportions of an androgenetic cell line across different tissues. It is primarily associated with severe congenital hyperinsulinism (CHI), Beckwith–Wiedemann syndrome (BWS) stigmata, a high risk (69–79%) of developing neoplasia and, in some cases, additional manifestations of multilocus paternal imprinting disorders (MPIDs). We herein report the first Mexican/Latin American female patient GWpUPIDM presenting with non-syndromic CHI requiring subtotal pancreatectomy and persistent but unexplained asymptomatic diffuse hepatopathy. When she was 8.5 years old, whole-exome sequencing (WES) in blood revealed an unexpectedly high (~92%) proportion of regions of homozygosity. DNA profiling confirmed a single haploid set of paternal chromosomes in both biparental and androgenetic cell lines, with varying proportions of the androgenetic lineage in leukocytes (84%), resected pancreas (74%), buccal cells (47%), and hair follicles (0.7%). Additional WES trio analysis using gDNA from the patient’s buccal cells and blood samples from both parents revealed an allelic frequency of ~75% for the paternally inherited variant NM_000158.4(GBE1):c.555+1G>T [ClinVar:632422; dbSNP:rs759707498]. At age 8.5, the patient exhibited no clinical features of BWS, MPIDs, or neoplasia. However, she presented persistent hepatic abnormalities that warrant further investigation to rule out an unmasked glycogen storage disease type IV (OMIM#232500). Our findings emphasize the critical need for early diagnosis of GWpUPIDM using SNP-based microarray or WES with further confirmation through DNA profiling in patients presenting with CHI, placental mesenchymal dysplasia, BWS stigmata, or other MPID-related conditions, including neoplasia, to facilitate timely cancer surveillance and management. Full article

Frontal fibrosing alopecia (FFA) is a primary lymphocytic cicatricial alopecia characterized by progressive frontotemporal hairline recession, frequently accompanied by eyebrow and body hair loss. Once considered rare, FFA is now recognized as the most common form of scarring alopecia, predominantly affecting postmenopausal women. Although its pathogenesis remains unclear, hormonal, genetic, autoimmune, and environmental factors have been implicated. Among environmental contributors, the potential role of cosmeceuticals has received increasing attention, with particular emphasis on sunscreen and facial moisturizers. Patch testing has identified sensitization to allergens frequently found in these products. However, due to numerous limitations in the existing studies, the association between cosmeceuticals and FFA remains controversial. As the prevalence of FFA continues to rise alongside widespread cosmetic product use, understanding their potential role in disease pathogenesis is essential. Current findings highlight the need for further investigation into environmental triggers. Full article

Background/Objectives: Glycogen storage disease type II, also known as Pompe disease (PD), is a rare autosomal recessive genetic disorder triggered by a deficiency in lysosomal acid α-glucosidase (GAA). Recently, we discovered two deleterious missense variants of the GAA gene, c.1799G>A (p.Arg600His) (a pathogenic mutation) and c.55G>A (p.Val19Met), in a domestic short-haired cat with PD. This study aimed to design genotyping assays for these two variants and ascertain their allele frequencies in Japanese cat populations. Methods: We developed fluorescent probe-based real-time polymerase chain reaction assays to genotype the c.1799G>A and c.55G>A variants. A total of 738 cats, comprising 99 purebred cats from 20 breeds and 540 mixed-breed cats, were screened using these assays. Results: Genotyping assays clearly differentiated all known genotypes of the two variants. None of the 738 cats tested carried the c.1799G>A variant. However, we identified cats with c.55G/A and c.55A/A genotypes in the purebred (A allele frequency: 0.081) and mixed-breed cats (0.473). A significant difference (p < 0.001) was observed in the A allele frequency between the two groups. Conclusions: The c.1799G>A mutation appears rare in cat populations, suggesting it may be confined to specific pedigree Japanese mixed-breed cats. The c.55G>A variant was detected in purebred and mixed-breed cats, suggesting that it may not be directly linked to feline PD. However, additional studies are required to elucidate the precise relationship between this variant and cardiac function. Genotyping assays will serve as valuable tools for diagnosing and genotyping feline PD. Full article

This article describes a new software architecture for the non-invasive detection of canine leishmaniasis disease. The proposed platform combines gas-sensing technologies, artificial intelligence (AI), and modular cloud-based software components to identify disease-specific volatile organic compounds (VOCs) found in dog breath and hair samples. The system, which has a multi-tier architecture that includes data collection, pre-processing, machine learning-based analysis, diagnosis-request processing, and user interfaces for veterinarians, faculty researchers, and dog owners, has been integrated into a Li-ion Power website plug-in. The primary goal of implementing the proposed platform is to detect parasites at any point they are infectious to a host. This includes detecting parasites at all stages of their life cycle, where they can infect a new host. In addition, this is crucial for accurate diagnosis, effective treatment, and preventing further transmission. Full article

Hair, as a non-invasive biospecimen, retains metabolic deposits from sebaceous glands and capillaries, reflecting substances from the peripheral circulation, and provides valuable biochemical information linked to phenotypes, yet its application in animal disease research remains limited. This work applied ultra-high-performance liquid chromatography–tandem mass spectrometry (UHPLC-MS/MS) to compare the hair metabolomic characteristics of healthy forest musk deer (FMD, Moschus berezovskii) and those diagnosed with hemorrhagic pneumonia (HP), phytobezoar disease (PD), and abscess disease (AD). A total of 2119 metabolites were identified in the FMD hair samples, comprising 1084 metabolites in positive ion mode and 1035 metabolites in negative ion mode. Differential compounds analysis was conducted utilizing the orthogonal partial least squares–discriminant analysis (OPLS-DA) model. In comparison to the healthy control group, the HP group displayed 85 upregulated and 92 downregulated metabolites, the PD group presented 124 upregulated and 106 downregulated metabolites, and the AD group exhibited 63 upregulated and 62 downregulated metabolites. Functional annotation using the Kyoto Encyclopedia of Genes and Genomes (KEGG) indicated that the differential metabolites exhibited significant enrichment in pathways associated with cancer, parasitism, energy metabolism, and stress. Receiver operating characteristic (ROC) analysis revealed that both the individual and combined panels of differential metabolites exhibited area under the curve (AUC) values exceeding 0.7, demonstrating good sample discrimination capability. This research indicates that hair metabolomics can yield diverse biochemical insights and facilitate the development of non-invasive early diagnostic techniques for diseases in captive FMD. Full article

Tinea incognito is an incorrectly diagnosed form of fungal infection due to a changed clinical picture as a result of systemic or topical corticosteroids or even local immunomodulators. This type of skin lesion is most often located on the trunk but can affect any part of the body. We present a case report of 76-year-old woman with a history of systemic lupus erythematosus who was admitted to hospital because of extensive, painful, and burning erythematous and papular lesions in an annular pattern, covered with a thick, yellow crust, located on the scalp and neck. The skin lesions were accompanied by extensive hair loss. The patient had previously undergone intensified treatment of the underlying disease due to the exacerbation of skin lesions of a subacute cutaneous lupus erythematosus type. A suspicion of tinea incognito was raised, and direct mycological examination and culture confirmed the presence of dermatophytes (Microsporum spp.). Tinea incognito can be difficult to diagnose because the clinical picture is relatively nonspecific and can mimic other dermatoses, such as subacute lupus erythematosus. Therefore, in doubtful cases it is necessary to perform a direct test and culture for fungal infection, especially before initiating treatment with glucocorticosteroids and other immunosuppressive agents. Full article

Smith–Lemli–Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the DHCR7 gene, which encodes the enzyme responsible for the final step in cholesterol biosynthesis. Impaired enzyme function leads to cholesterol deficiency, affecting the development and function of the entire organism. The accumulation of cholesterol precursors enhances the formation of oxysterols, which are involved in the pathomechanism of neurological, ophthalmological, and vascular changes in patients. This review analyzes 53 studies published between 2020 and 2025 on the molecular mechanisms underlying the clinical features of SLOS, including cholesterol deficiency, oxysterol accumulation, and the latest diagnostic methods, including LC-MS/MS chromatography and biomarkers such as GFAP for monitoring disease progression. MRI is discussed as a supportive tool for neuroimaging, along with advances in prenatal diagnostics, such as the detection of cholesterol precursors in neonatal hair. Therapeutic options are also reviewed, with particular emphasis on cholesterol supplementation, cholic acid, and experimental treatments such as vitamin E supplementation, statin therapy, gene therapy, and liver transplantation. Current research indicates that expanding knowledge in this area not only improves patient prognosis but also provides hope for the development of effective therapies in the future. Full article

Background/Objectives: Hidradenitis suppurativa (HS) is a complicated chronic inflammatory skin disorder characterized by recurrent and painful deep-seated nodules, abscesses, fistulae, scarring, and sinus tracts. HS most commonly affects high-density hair follicles and apocrine gland-rich regions of the body, including the axillae, inguinal folds, breasts, and perianal areas. Although genetic predisposition and environmental factors are known to contribute to the development and the severity of HS, the molecular mechanisms of HS are largely unknown. Methods: In this study, we employed global epigenetic and genomic data analysis and single-nucleus ATAC-seq (snATAC-seq) to profile the heterogeneity of HS-associated chromatin accessibility and define the underlying disease drivers. We additionally performed high-resolution immunofluorescence staining to confirm a novel candidate regulator. Results: We found that multiple skin development modules and molecular signal pathways were epigenetically dysregulated in HS basal CD49f^high cells. Importantly, our snATAC-seq revealed a previously unraveled role for a transcription factor, ATF3, in transcriptionally regulating HS-associated genes. We also delineated the specific ATF3 expression pattern across the HS lesional skin. Conclusions: We characterize HS-specific epigenetic plasticity and chromatin state at the single-nucleus level and further underscore a possible mechanism for HS pathogenesis. Full article

Considering the controversial findings in the existing literature, this study aimed to deepen the knowledge about Hair Cortisol Concentration (HCC) in dogs by evaluating the influence on HCC of some factors related to dogs and guardians. Hair was collected from two groups: 128 Healthy Dogs (HD) and 25 dogs with a primary Chronic Gastroenteric Disease (CGD). Guardians of HD filled in a questionnaire, including dogs and respondents’ demographic information, and the perceived welfare and behaviour of the dog. HCC were measured with an enzyme immunoassay kit. A Wilcoxon rank-sum test was conducted to compare HCC in HD and CGD. For HD, a multiple linear regression and an ordinary logistic regression were performed with the dependent variable being HCC and the independent variables being dog and guardian characteristics and the questionnaire evaluations. HCC was statistically lower in CGD (medians: 4.79 versus 6.41 pg cortisol/mg hair; W = 961, p < 0.001). A positive association between HCC and guardian’s age was found (β: 0.012; t-value = 3.205; p < 0.01). Previous literature has shown that several factors can affect HCC in dogs; however, given the controversial results, a large sample and a multiparametric analysis, as in this study, can advance knowledge and highlight newly investigated factors. This study revealed the importance of also considering factors related to the guardian and the possibility that multiple factors interact and collectively influence HCC. Full article

Background: Coronary artery disease (CAD) is a leading global cause of mortality. The role of calcium (Ca), a key metabolic and structural element, in atherosclerosis and inflammation remains unclear. Ca influences immune cell function and is a component of atherosclerotic plaques. Hair analysis reflects long-term mineral exposure and may serve as a non-invasive biomarker. Objectives: This pilot study aimed to investigate the association between hair Ca levels and acute coronary syndrome (ACS), and to evaluate correlations with the Systemic Inflammatory Index (SII), Systemic Inflammatory Response Index (SIRI), and selected CAD risk factors. Methods: Ca levels were measured in hair samples from patients undergoing coronary angiography for suspected myocardial infarction. Associations with ACS diagnosis, Syntax score, SII, SIRI, and CVD risk factors were analyzed. Results: Serum calcium levels were not significantly associated with the presence of acute coronary syndrome (ACS) (p = 0.392) or with its clinical subtypes, including ST-elevation myocardial infarction (STEMI), non-ST-elevation myocardial infarction (NSTEMI), and unstable angina (UA) (p = 0.225). Diagnosis of ACS was linked to higher SII (p = 0.028) but not SIRI (p = 0.779). Ca levels correlated negatively with Syntax score (R = −0.19, p = 0.035) and SII (R = −0.22, p = 0.021) and positively with HDL-C (R = 0.18, p = 0.046). Conclusions: Hair calcium content may reflect subclinical inflammation and CAD severity. Although no direct link to ACS was observed, the associations with SII, HDL-C, and Syntax score suggest a potential diagnostic role which should be further explored in larger, well-controlled studies. Full article

Objectives: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with an unclear etiology. This study aimed to assess chronic heavy metal exposure in ALS patients in South Korea by comparing hair concentrations of common (Hg, Pb, Cd) and rare (U, Th, Pt) metals with healthy controls. Methods: Hair samples were collected from 66 ALS patients and 70 healthy individuals at Rodem Hospital between 2022 and 2025. Metal concentrations were measured using inductively coupled plasma mass spectrometry (ICP-MS) following standardized washing and digestion protocols. Results: ALS patients showed significantly higher levels of Hg, Pb, Cd, Al, As, and U than controls (p < 0.05). Notably, 40% of ALS patients had Hg levels exceeding 50% of the reference upper limit, compared to only 10% of controls. Elevated levels of uranium and other rare metals were also observed in specific ALS cases. Conclusions: These findings suggest a possible association between heavy metal exposure and ALS in South Korea. Hair analysis may serve as a useful tool for identifying environmental factors contributing to ALS pathogenesis. Full article

Androgenetic alopecia (AGA) is marked by the progressive miniaturization of hair follicles (HFs) and hair thinning, driven by a decline in the progenitor cells critical for hair regeneration. Despite this, the mechanisms responsible for progenitor cell depletion remain largely unclear. To investigate transcriptional alterations in the progenitor cell regions of AGA patients while maintaining the spatial tissue context, we employed the GeoMX Digital Spatial Profiling (DSP) platform, which enables a precise comparison with healthy controls. Our analysis revealed the significant upregulation of genes associated with extracellular matrix (ECM) organization and the epithelial–mesenchymal transition (EMT), including FN1, TWIST1, and TGFB2 in the progenitor cell region of the HFs. Correspondingly, protein expression data confirmed increased levels of the protein products of these genes in the affected areas, underscoring their roles in the disease’s progression. These molecular changes suggest an environment conducive to the EMT, potentially contributing to the loss of progenitor cells and indicating a fibrogenic shift within the HF microenvironment. Additionally, our study highlights the influence of peri-infundibular immune cell infiltration on these molecular changes, suggesting that immune-mediated microinflammation may contribute to the fibrogenic environment and progenitor cell loss in the AGA. These findings demonstrate the utility of spatial transcriptomics in identifying potential therapeutic targets and advancing our understanding of AGA’s molecular mechanisms, offering avenues for developing targeted treatment strategies. Full article

Herein, we present scanning electron microscopy imagery of Demodex folliculorum on the eyelashes of a patient with a two-year history of dry, burning, and watery eyes. Demodex mites are part of the normal human skin flora, inhabiting hair follicles and sebaceous glands. However, in some individuals, they may contribute to ocular surface diseases, including blepharitis and dry eye disease. Symptoms often include itching, photophobia, and a foreign body sensation. The pathogenic role of Demodex is not fully understood but may involve microabrasions, gland obstruction, hypersensitivity reactions, and bacterial dysbiosis. The presence of collarettes at the base of eyelashes is a diagnostic hallmark. Although optimal treatment remains debated, options include topical tea tree oil, ivermectin, and a recently FDA-approved drug lotilaner. Our patient responded favorably to a two-month regimen of tea tree oil-based eyelid wipes. This case underscores the clinical relevance of Demodex infestation in chronic ocular discomfort and highlights the importance of diagnostics. Full article