Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.

A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.

This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.

This review highlights recent advances in the design of nanocarrier systems for transdermal drug delivery, detailing their potential to improve treatment precision for dermatologic conditions despite challenges like formulation stability and scalability.

This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.

This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.

In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.

In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.

This review highlights recent advances in liposome-based transdermal drug delivery systems, emphasizing their potential to improve drug penetration for both skin and systemic diseases while discussing the challenges and future directions in this field.

In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.

This source reports that trastuzumab deruxtecan improves outcomes in HER2-positive and HER2-low metastatic breast cancer, emphasizing the need for careful adverse event monitoring, particularly for interstitial lung disease, and managing emetic risk to maximize benefits.

This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.

This study suggests that combining bendamustine with tucidinostat may improve survival in patients with relapsed or refractory adult T-cell leukemia/lymphoma, highlighting its potential for clinical investigation.

This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.

This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.

This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.

This study found that skin exposure to toluene diisocyanate in mice creates immune-recognition reservoirs in the skin's stratum corneum and hair follicles, potentially leading to sensitization and allergic reactions.

This case study describes a previously unknown association of the PIBIDS complex with autoimmune thyroiditis and autoimmune hemolytic anemia in a five-year-old Indian child.

This retrospective analysis reported significant increases in testosterone levels in men with testosterone deficiency using the Daily Subcutaneous Testosterone method combined with hCG and anastrozole, indicating its potential as a treatment option.

In this study, tibial cortex transverse transport accelerated wound healing in diabetic rats, potentially through enhanced mobilization of non-classical monocytes and increased M2 macrophage polarization.

In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.

This review discusses the design strategies and applications of long-acting polymeric microneedles, noting their potential to improve patient compliance and reduce side effects in chronic disease management, but reports no new experimental results.

This study found that group behavior therapy for trichotillomania led to greater short-term symptom improvement compared to supportive therapy, but did not achieve clinically significant changes or prevent relapse over six months.

A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.

This article discusses the trichoscopic diagnosis of temporal triangular alopecia, but reports no new clinical results.

This review discusses managing common and notable adverse events associated with the antibody-drug conjugate trastuzumab deruxtecan in patients with HER2-positive unresectable/metastatic breast cancer and reports no new clinical results.

This report describes an 8-year-old male with trichotillomania, confirmed by trichoscopy showing characteristic hair damage and patterns.