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Human Genomics Apr 2024Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (T2), type 3 (T3), and type 4 (T4), with type 1...
BACKGROUND
Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (T2), type 3 (T3), and type 4 (T4), with type 1 (T1) being considered normal. Although various MPB-associated genetic variants have been suggested, a comprehensive study for linking these variants to gene expression regulation has not been performed to the best of our knowledge.
RESULTS
In this study, we prioritized MPB-related tissue panels using tissue-specific enrichment analysis and utilized single-tissue panels from genotype-tissue expression version 8, as well as cross-tissue panels from context-specific genetics. Through a transcriptome-wide association study and colocalization analysis, we identified 52, 75, and 144 MPB associations for T2, T3, and T4, respectively. To assess the causality of MPB genes, we performed a conditional and joint analysis, which revealed 10, 11, and 54 putative causality genes for T2, T3, and T4, respectively. Finally, we conducted drug repositioning and identified potential drug candidates that are connected to MPB-associated genes.
CONCLUSIONS
Overall, through an integrative analysis of gene expression and genotype data, we have identified robust MPB susceptibility genes that may help uncover the underlying molecular mechanisms and the novel drug candidates that may alleviate MPB.
Topics: Humans; Male; Transcriptome; Alopecia; Genotype; Prognosis; Genome-Wide Association Study; Genetic Predisposition to Disease
PubMed: 38566255
DOI: 10.1186/s40246-024-00591-y -
Scientific Reports Apr 2024Dandruff, a common scalp disorder characterized by flaking dead skin, is often treated with conventional topical products. However, limitations exist due to potential...
Dandruff, a common scalp disorder characterized by flaking dead skin, is often treated with conventional topical products. However, limitations exist due to potential side effects and high costs. Therefore, searching for natural, cost-effective solutions for dandruff and hair loss is crucial. Rosemary herb and neem tree, both cultivated in Egypt, possess well-documented anti-inflammatory properties derived from their rich phenolic phytoconstituents. This study formulated a standardized combined extract of rosemary and neem (RN-E 2:1) into hair gel and leave-in tonic formats. This extract demonstrated superior efficacy against Malassezia furfur (a causative agent of dandruff) and Trichophyton rubrum (associated with scalp disorders) compared to the conventional antifungal agent, ketoconazole. The combined extract (RN-E 2:1) also exhibited potent anti-inflammatory activity. Additionally, the suppression of iNOS expression is considered concentration-dependent. Quality control verified formulation stability, and ex-vivo studies confirmed effective ingredient penetration into the epidermis, the primary site of fungal presence. Remarkably, both formulations outperformed the standard treatment, minoxidil in hair growth trials. These findings highlight the potential of natural extracts for scalp and hair health.
Topics: Dandruff; Rosmarinus; Azadirachta; Alopecia; Plant Extracts; Anti-Inflammatory Agents
PubMed: 38565924
DOI: 10.1038/s41598-024-57838-w -
Biomedicine & Pharmacotherapy =... May 2024Androgenetic alopecia (AGA) is a prevalent disease in worldwide, local application or oral are often used to treat AGA, however, effective treatments for AGA are...
Androgenetic alopecia (AGA) is a prevalent disease in worldwide, local application or oral are often used to treat AGA, however, effective treatments for AGA are currently limited. In this work, we observed the promoting the initial anagen phase effect of pilose antler extract (PAE) on hair regeneration in AGA mice. We found that PAE accelerated hair growth and increased the degree of skin blackness by non-invasive in vivo methods including camera, optical coherence tomography and dermoscopy. Meanwhile, HE staining of sagittal and coronal skin sections revealed that PAE augmented the quantity and length of hair follicles, while also enhancing skin thickness and hair papilla diameter. Furthermore, PAE facilitated the shift of the growth cycle from the telogen to the anagen phase and expedited the proliferation of hair follicle stem cells and matrix cells in mice with AGA. This acceleration enabled the hair follicles to enter the growth phase at an earlier stage. PAE upregulated the expression of the sonic hedgehog (SHH), smoothened receptor, glioma-associated hemolog1 (GLI1), and downregulated the expression of bone morphogenetic protein 4 (BMP4), recombinant mothers against decapentaplegic homolog (Smad) 1 and 5 phosphorylation. This evidence suggests that PAE fosters hair growth and facilitates the transition of the growth cycle from the telogen to the anagen phase in AGA mice. This effect is achieved by enhancing the proliferation of follicle stem cells and matrix cells through the activation of the SHH/GLI pathway and suppression of the BMP/Smad pathway.
Topics: Animals; Antlers; Alopecia; Hair Follicle; Mice; Male; Bone Morphogenetic Protein 4; Hair; Hedgehog Proteins; Zinc Finger Protein GLI1; Cell Proliferation; Signal Transduction; Tissue Extracts; Mice, Inbred C57BL; Disease Models, Animal; Regeneration; Deer; Smad5 Protein
PubMed: 38565060
DOI: 10.1016/j.biopha.2024.116503 -
Frontiers in Endocrinology 2024Non-scarring alopecia is typically represented by two main types: alopecia areata (AA) and androgenetic alopecia (AGA). While previous observational studies have...
BACKGROUND
Non-scarring alopecia is typically represented by two main types: alopecia areata (AA) and androgenetic alopecia (AGA). While previous observational studies have indicated a link between non-scarring alopecia and hypothyroidism, the precise causal relationship remains uncertain. To determine the potential links between non-scarring alopecia and hypothyroidism, we conducted a bidirectional two-sample Mendelian randomization (MR) analysis.
METHODS
We used independent genetic instruments from the FinnGen consortium for AA (682 cases, 361,140 controls) and AGA (195 cases, 201,019 controls) to investigate the association with hypothyroidism in the UK Biobank study (22,687 cases, 440,246 controls). The primary analysis was performed using the inverse variance-weighted method. Complementary approaches were employed to evaluate the pleiotropy and heterogeneity.
RESULTS
Genetically predicted AA exhibited a positive causal effect on hypothyroidism (odds ratio [OR], 1.0017; 95% confidence interval [CI], 1.0004-1.0029; = 0.0101). Additionally, hypothyroidism was found to be strongly correlated with an increase in the risk of AA (OR, 45.6839; 95% CI, 1.8446-1131.4271, = 0.0196). However, no causal relationship was demonstrated between AGA and hypothyroidism. A sensitivity analysis validated the integrity of these causal relationships.
CONCLUSION
This MR study supports a bidirectional causal link between AA and hypothyroidism. Nevertheless, additional research is needed to gain a more thorough comprehension of the causal relationship between non-scarring alopecia and hypothyroidism.
Topics: Humans; Mendelian Randomization Analysis; Alopecia Areata; Hypothyroidism; Odds Ratio
PubMed: 38562416
DOI: 10.3389/fendo.2024.1356832 -
AIDS Research and Therapy Apr 2024Syphilis is an infection caused by the bacteria Treponema pallidum. It is mainly transmitted through oral, vaginal and anal sex, in pregnancy and through blood...
BACKGROUND
Syphilis is an infection caused by the bacteria Treponema pallidum. It is mainly transmitted through oral, vaginal and anal sex, in pregnancy and through blood transfusion. Syphilis develops in primary, secondary, latent and tertiary stages and presents with different clinical features at each stage. Infected patients can remain asymptomatic for several years and, without treatment, can, in extreme cases, manifest as damage in several organs and tissues, including the brain, nervous tissue, eyes, ear and soft tissues. In countries with a high human immunodeficiency virus (HIV) burden, syphilis increases the risk of HIV infections. We report the case of a young HIV-positive black woman who presented with alopecia and hypopigmentation as features of secondary syphilis.
CASE PRESENTATION
A virologically suppressed 29-year-old woman on Anti-retroviral Therapy (ART) presented with a short history of generalized hair loss associated with a non-itchy maculopapular rash and skin depigmentation on the feet. Limited laboratory testing confirmed a diagnosis of secondary syphilis. She was treated with Benzathine Penicillin 2.4MU. After receiving three doses of the recommended treatment, the presenting features cleared, and the patient recovered fully.
CONCLUSION
This case demonstrates the importance of a high index of clinical suspicion and testing for syphilis in patients presenting with atypical clinical features of secondary syphilis, such as hair loss and hypopigmentation. It also highlights the challenges in diagnosing and clinically managing syphilis in a resource-limited setting.
Topics: Adult; Female; Humans; Alopecia; HIV Infections; HIV Seropositivity; Hypopigmentation; Syphilis; Black People
PubMed: 38561779
DOI: 10.1186/s12981-024-00603-w -
Quality of Life Research : An... Jun 2024Alopecia areata (AA) is an autoimmune-mediated inflammatory dermatological disease characterised by non-scarring hair loss affecting the scalp and sometimes other...
PURPOSE
Alopecia areata (AA) is an autoimmune-mediated inflammatory dermatological disease characterised by non-scarring hair loss affecting the scalp and sometimes other hair-bearing sites. This study aimed to elicit health state utility values (HSUVs) from the UK general population for AA using time trade off (TTO) interviews.
METHODS
Vignette descriptions of health states defined by the extent of hair loss were developed (as well as one describing caregiver burden). These were developed using data from standardised patient reported outcome (PRO) measures, a literature review and qualitative interviews. Health states were defined based on the severity of alopecia tool (SALT), which assesses extensiveness of scalp hair loss. HSUVs were then elicited for each health state in TTO interviews with the UK public.
RESULTS
One caregiver and five patient health states were developed based on the literature review findings, clinical trial PRO (Hospital Anxiety and Depression Scale and Alopecia Areata Patient Priority Outcomes Questionnaire) data and qualitative interviews with patients (N = 11), clinical experts (N = 4) and caregivers of adolescents with AA (N = 10). These data showed a more severe impact among patients with more extensive hair loss. One hundred and twenty participants evaluated the vignettes in TTO interviews. Patient HSUVs ranged from 0.502 for the most extensive hair loss health state (SALT 50-100 + eyebrow and eyelash loss) to 0.919 (SALT 0-10) for the mildest health state. The caregiver HSUV was 0.882.
CONCLUSION
Quantitative and qualitative data sources were used to develop and validate vignettes describing different AA health states. Patient and caregiver HSUVs demonstrate a large impact associated with AA, especially for states defined by more extensive hair loss.
Topics: Humans; Alopecia Areata; Female; Male; Adult; Middle Aged; Quality of Life; Adolescent; United Kingdom; Surveys and Questionnaires; Caregivers; Interviews as Topic; Young Adult; Qualitative Research; Health Status; Severity of Illness Index
PubMed: 38551802
DOI: 10.1007/s11136-024-03645-9 -
Nutrients Mar 2024In recent years, heightened attention has been devoted to unravelling the intricate interplay between genetic and environmental factors shaping the gut microbiota and...
In recent years, heightened attention has been devoted to unravelling the intricate interplay between genetic and environmental factors shaping the gut microbiota and its significance for human health. This study delves into exploring the plausible connection between Alopecia Areata (AA), an autoimmune disease, and the dynamics of the gut microbiome. Examining a cohort of healthy adults and individuals with AA, both the gut microbiota composition and volatile organic compound (VOC) metabolites from faeces and urine were analysed. While overall microbiota composition showed no significant differences, intra-individual variability revealed distinctions related to age, gender, and pathology status, with AA individuals exhibiting reduced species richness and evenness. Differential abundance analysis identified microbial biomarkers for AA, notably Firmicutes, , and , while stood out for healthy individuals. The Data Integration Analysis for Biomarker discovery using Latent Components (DIABLO) method further supported these findings including metabolite biomarkers, such as esters of branched chain fatty acids and branched chain amino acids as predictors for AA, suggesting potential links to oxidative stress. Despite certain limitations, the study highlights the complexity of the gut microbiome and its metabolites in the context of AA, while the biomarkers identified could be useful starting points for upcoming studies.
Topics: Adult; Humans; Gastrointestinal Microbiome; Alopecia Areata; Metabolome; Feces; Biomarkers; RNA, Ribosomal, 16S
PubMed: 38542770
DOI: 10.3390/nu16060858 -
Skin Research and Technology : Official... Apr 2024To establish accurate and objective dermoscopic diagnostic criteria and grading standards for males and females with androgenetic alopecia (AGA).
OBJECTIVES
To establish accurate and objective dermoscopic diagnostic criteria and grading standards for males and females with androgenetic alopecia (AGA).
METHODS
Twenty patients each with AGA, diffuse alopecia areata, telogen effluvium, and healthy controls were enrolled in the current study. In addition, 60 patients with grades F1/V1, F2/V2, and F3/V3 AGA (20 cases each) were enrolled. The patients underwent dermoscopic examinations. The sensitivity and specificity of the diagnostic criteria were based on the 60 AGA and 60 non-AGA. In addition, 150 patients diagnosed with AGA clinically and by dermoscopy were enrolled to calculate the accuracy of the grading criteria.
RESULTS
The diagnostic criteria included primary, secondary, and exclusion criteria. The grading criteria included three indices, which divided the severity of AGA into grades 1, 2, and 3. The sensitivity and specificity of the diagnostic criteria were 98.3% and 96.7% respectively. The accuracy of grade 1, 2, and 3 dermoscopic grading criteria were 96%, 92%, and 100% respectively, with a total accuracy of 96%.
LIMITATIONS
To test the diagnostic and grading criteria, more patients need to be collected.
CONCLUSIONS
The dermoscopic diagnostic and grading criteria are objective with good accuracy, which could provide a reasonable basis for the early diagnosis, grading treatment, and improved prognosis for AGA.
Topics: Male; Female; Humans; Dermoscopy; Alopecia; Alopecia Areata
PubMed: 38533753
DOI: 10.1111/srt.13649 -
Skin Research and Technology : Official... Mar 2024Alopecia areata (AA) is an autoimmune condition characterized by sudden and unpredictable hair loss, with a lifetime incidence of 2%. AA can be divided into three...
BACKGROUND
Alopecia areata (AA) is an autoimmune condition characterized by sudden and unpredictable hair loss, with a lifetime incidence of 2%. AA can be divided into three categories: patchy alopecia, alopecia totalis, and alopecia universalis. It can affect a person's psychological health and overall quality of life. Elevated C-reactive protein (CRP) levels in the liver may indicate an inflammatory response in autoimmune diseases. Vitamin D, essential for immune system control and skin health, may be related to AA. Hair follicles contain vitamin D receptors, which control immunological responses in the skin. However, no study has found a relationship between CRP and vitamin D in AA patients in our region.
SUBJECTS AND METHODS
An analytical cross-sectional study with a case-control design research investigation of 82 AA patients and 81 healthy controls was carried out. Both groups' medical histories were taken. Biochemical analysis was done for both groups as well as the serum vitamin D levels, and CRP. Genetic analysis for CDX2 rs11568820 variant detected by PCR (T-ARMS-PCR) method and vitamin D receptor (VDR) gene expression measured by real-time PCR analysis for both patients and healthy subjects.
RESULTS
CRP levels are higher in AA patients, AA patients with G/G genotypes exhibited higher concentrations of CRP when compared to those with A/A and A/G genotypes while patients with A/A genotypes have higher levels of Serum vitamin D as compared to the A/G and G/G genotypes. G allele was more abundant in AA patients. VDR gene expression was lower in AA compared to control and lower in ophiasis compared to localized and multiple patchy AA. An important inverse linear correlation was observed between vitamin D and CRP levels in ophiasis AA.
CONCLUSION
CRP concentrations were found to be elevated in AA patients. The considerable accuracy of CRP in the diagnosis of AA is substantiated by a statistically significant al. A noteworthy inverse linear association was observed between serum vitamin D and CRP concentrations in ophiasis AA.
Topics: Humans; Alopecia Areata; C-Reactive Protein; Cross-Sectional Studies; Quality of Life; Vitamin D Deficiency; Vitamin D; Biomarkers
PubMed: 38528743
DOI: 10.1111/srt.13657 -
Stem Cell Research & Therapy Mar 2024Chemotherapy-induced alopecia (CIA) is a distressing adverse effect of chemotherapy, with an estimated incidence of 65% and limited treatment options. Cyclophosphamide...
BACKGROUND
Chemotherapy-induced alopecia (CIA) is a distressing adverse effect of chemotherapy, with an estimated incidence of 65% and limited treatment options. Cyclophosphamide (CYP) is a common alopecia-inducing chemotherapy agent. Human dental pulp stem cells (DPSCs) secrete several paracrine factors that up-regulate hair growth. Conditioned medium (CM) collected from DPSCs (DPSC-CM) promotes hair growth; culturing mesenchymal stem cells under hypoxic conditions can enhance this effect.
METHODS
The effect of DPSC-CM cultured under normoxic (N-) and hypoxic (H-) conditions against CYP-mediated cytotoxicity in keratinocytes was examined using cell viability assay, lactate dehydrogenase (LDH) cytotoxicity assay, and apoptosis detection. The damage-response pathway was determined in a well-established CIA mouse model by analyzing macroscopic effects, histology, and apoptosis. Reverse transcription-quantitative PCR and Caspase-3/7 activity assay were used to investigate the impact of DPSC-CM on the molecular damage-response pathways in CYP-treated mice. The effect of post-CIA DPSC-CM application on post-CIA hair regrowth was analyzed by macroscopic effects and microstructure observation of the hair surface. Furthermore, to investigate the safety of DPSC-CM as a viable treatment option, the effect of DPSC-CM on carcinoma cell lines was examined by cell viability assay and a subcutaneous tumor model.
RESULTS
In the cell viability assay, DPSC-CM was observed to increase the number of keratinocytes over varying CYP concentrations. Furthermore, it reduced the LDH activity level and suppressed apoptosis in CYP-treated keratinocytes. DPSC-CM exhibited the cytoprotective role in vivo via the dystrophic anagen damage-response pathway. While both N-CM and H-CM downregulated the Caspase-3/7 activity level, H-CM downregulated Caspase-3 mRNA expression. The proportion of post-CIA H-CM-treated mice with > 90% normal hair was nearly twice that of vehicle- or N-CM-treated mice between days 50 and 59 post-depilation, suggesting that post-CIA H-CM application may accelerate hair regrowth and improve hair quality. Furthermore, DPSC-CM suppressed proliferation in vitro in certain carcinoma cell lines and did not promote the squamous cell carcinoma (SCC-VII) tumor growth rate in mice.
CONCLUSIONS
The potentiality of DPSC-CM and H-CM as a promising cytoprotective agent and hair regrowth stimulant, respectively, for CIA needs in-depth exploration.
Topics: Humans; Mice; Animals; Culture Media, Conditioned; Caspase 3; Dental Pulp; Alopecia; Cyclophosphamide; Mesenchymal Stem Cells; Antineoplastic Agents; Carcinoma
PubMed: 38500206
DOI: 10.1186/s13287-024-03695-3