Mustafa Mahmood

Systemic sclerosis (SSc), or scleroderma, is a chronic autoimmune disease marked by excessive collagen deposition and vasculopathy. Orofacial manifestations of SSc, particularly involving the lips, are common including microcheilia, microstomia and the classic ‘mask-like’ face, all of which greatly affect patient quality of life. This review explores the lips in both health and SSc. We examine factors affecting lip health, methods of assessment, SSc-specific impacts and discuss available therapeutic approaches. A comprehensive literature search was conducted via PubMed and Embase. All article types were considered from inception of the databases and the search was last run on 20 April 2025 . The lips play a critical role in facial expression, communication and appearance. Anatomy is complex and relevant to SSc pathogenesis. Relevant factors include gender differences, ageing patterns, ethnicity and lifestyle. The pathogenesis of lip involvement in SSc is multifactorial. In SSc, dermal fillers, autologous fat transfer and platelet-rich plasma therapy have been shown to at least transiently volumise the lips and alleviate tightness. There is a lack of data on long-term benefits as well as standardised assessment tools for lip involvement in SSc. The impact of lip involvement in SSc presents significant unmet clinical needs. There is a critical need to benchmark natural lip variation due to ethnicity, ageing and gender to facilitate research. Future research agendas should focus on defining patient priorities, standardising imaging techniques to assist in understanding pathogenesis and treatment response, and developing evidence based educational resources for patients and healthcare professionals .

The role of antibodies in protection against food allergy is debated. Here, we designed a longitudinal birth cohort study recruiting participants from an Old Order Mennonite (OOM) community, a traditional farm lifestyle considered to be at low risk for allergic diseases, and participants from urban and suburban Rochester, NY, USA, that were at higher risk for developing allergic diseases. We collected cord and peripheral blood, stool, saliva, and maternal milk samples longitudinally during pregnancy and during the first year of the infant’s life to evaluate B cell and antibody responses. Farm exposure led to an accrual of memory and immunoglobulin G–positive (IgG ⁺ ) B cells, higher titers of plasma IgG and IgA and salivary and fecal IgA in infants, and higher IgA titers in maternal milk. Moreover, OOM infants and their mothers had higher titers of plasma IgG ₄ and IgA antibodies to egg ovalbumin in maternal milk, respectively, a feature that we found to be associated with lower incidence of egg allergy. Infant systemic IgG ₄ and IgA were associated with early introduction or more frequent ingestion of lightly cooked egg, respectively, but there was also an effect independent of egg exposure. Several food antigens were detected in cord blood, with in utero exposure potentially explaining the unexpected presence of antigen-specific IgA at birth. These analyses suggest earlier maturation of B cell immunity in farming lifestyle communities.

Retrotransposons are mobile DNA elements that are more active with increasing age and exacerbate aging phenotypes in multiple species. We previously reported an unexpected extension of chronological lifespan in the yeast, Saccharomyces paradoxus, due to the presence of Ty1 retrotransposons when cells were aged under conditions of mild stress. In this study, we tested a subset of genes identified by RNA-seq to be differentially expressed in S. paradoxus strains with a high-copy number of Ty1 retrotransposons compared with a strain with no retrotransposons and additional candidate genes for their contribution to lifespan extension when cells were exposed to a moderate dose of hydroxyurea (HU). Deletion of ADE8, NCS2, or TRM9 prevented lifespan extension, while deletion of CDD1, HAC1, or IRE1 partially prevented lifespan extension. Genes overexpressed in high-copy Ty1 strains did not typically have Ty1 insertions in their promoter regions. We found that silencing genomic copies of Ty1 prevented lifespan extension, while expression of Ty1 from a high-copy plasmid extended lifespan in medium with HU or synthetic medium. These results indicate that cells adapt to expression of retrotransposons by changing gene expression in a manner that can better prepare them to remain healthy under mild stress.

Background: Scalp reconstruction requires knowledge of scalp anatomy and reconstructive options. Advances in the field have led to numerous procedures being at the disposal of the reconstructive surgeon, expanding treatment options for patients. Objective: To provide an algorithmic approach and general guidelines to consider when deciding on which scalp surgery will optimize cosmetic and functional outcomes. Methods & materials: Previous literature was searched for the last 20 years to provide an updated guide. Results: Taking into consideration the location, size and local scalp anatomy of a presenting defect will lead to optimal surgical outcomes. Other confounding factors such as bone exposure and extremely large defects will affect decision making. An algorithmic approach has been provided in this review. Conclusion: While many reconstructive surgical options are available, the best ones will depend on individual presentation of scalp defects. Location and size are first line considerations while local scalp anatomy will allow for tailoring of reconstructive options. This will help to maximize cosmetic and aesthetic considerations.