Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients

Background Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disability (ID), ectopia lentis and long limbs, along with elevated plasma methionine, and homocysteine. Methods A total of 429 ID patients (age range: 1.6–23 years) were sampled from Northern areas of Punjab, Pakistan. Biochemical and genetic analyses were performed to find classical HCU disease in ID patients. Results Biochemically, nine patients from seven unrelated families were identified with high levels of plasma methionine and homocysteine. Targeted exonic analysis of CBS confirmed seven causative homozygous mutations; of which three were novel missense mutations (c.451G>T; p.Gly151Trp, c.975G>C; p.Lys325Asn and c.1039 + 1G>T splicing), and four were recurrent variants (c.451 + 1G>A; IVS4 + 1 splicing, c.770C>T; p.Thr257Met, c.808_810del GAG; p.Glu270del and c.752T>C; p.Leu251Pro). Treatment of patients was initiated without further delay with pyridoxine, folic acid, cobalamin, and betaine as well as dietary protein restriction. The immediate impact was noticed in behavioral improvement, decreased irritability, improved black hair color, and socialization. Overall, health outcomes in this disorder depend on the age and symptomatology at the time of treatment initiation. Conclusions With personalized treatment and care, such patients can reach their full potential of living as healthy a life as possible. This screening study is one of the pioneering initiatives in Pakistan which would help to minimize the burden of such treatable inborn errors of metabolism in the intellectually disabled patients.

Applied Up-style Study Motivated by Mushrooms

The purpose of this study is to provide possibility and scalability for the creation of an artistic and original modern up-style in subsequent studies by applying the mushroom form. The four works were created by applying various kinds of mushroom images by combining the components of up-style design, the principles of design, and up-style techniques. As a result, the first piece was produced with a three-dimensional texture by raising the hair little by little. Art 2 uses black hair to create a distinct line of shape, creating a splendid refinement. Art 3 shows classic beauty and elegance by braiding to express the mesh-shaped characteristics of mushrooms. The wave shape of mushrooms in Figure 4 shows richness and rhythm through wave continuity and movement. The conclusion is that the design can be produced and applied with harmony and balance by applying up-style techniques by utilizing the characteristics of various kinds of mushrooms. And I could see that the up-style design has a texture and eye-catching effect depending on the color. In future research, we look forward to the possibility of satisfying customers' needs and expectations by studying infinite designs that can express the elegance and beauty of up-style.

Hair phenotype diversity across Indriidae lemurs

Hair (i.e., pelage/fur) is a salient feature of primate (including human) diversity and evolution-serving functions tied to thermoregulation, protection, camouflage, and signaling-but wild primate pelage biology and evolution remain relatively understudied. Specifically, assessing multiple hypotheses across distinct phylogenetic scales is essential but is rarely conducted. We examine whole body hair color and density variation across the Indriidae lemurs (Avahi, Indri, Propithecus)-a lineage that, like humans, exhibits vertical posture (i.e., their whole bodies are vertical to the sun). Our analyses consider multiple phylogenetic scales (family-level, genus-level) and hypotheses (e.g., Gloger's rule, the body cooling hypotheses). Our results show that across the Indriidae family, darker hair is typical in wetter regions (per Gloger's rule). However, within Propithecus, dark black hair is common in colder forest regions, which may implicate thermoregulation and is the first empirical evidence of Bogert's rule in mammals. Results also show pelage redness increases in populations exhibiting enhanced color vision and may thus aid conspecific communication in forested environments. Lastly, across Indriidae, we find follicle density on the crown and limbs increases in dry and open environments-rare empirical evidence supporting an early hypothesis on hominin hair evolution. We find an effect of body size on hue (red hair) and hair density but not on brightness (black hair). This study highlights how different selective pressures across distinct phylogenetic scales have likely acted on primate hair evolution. Lastly, since hair does not fossilize, the results of follicle and hair density variation across this clade offer us some potential insight into contextualizing human hair evolution.

Body Image and Eating Disorders Among South Asian American Women: What Are We Missing?

This study used focus group methodology to examine South Asian (SA) American women’s conceptualizations of eating disorders (EDs) and body dissatisfaction, and their perspectives regarding cultural influences on these conditions. Using a qualitative descriptive approach, seven focus groups were conducted ( N = 54, mean age = 20.11 years, SD = 2.52). Themes ( n = 15) were organized according to the amended objectification theory framework. Women described experiences of cultural stressors specifically related to living in the United States, and weight stigma from multiple sources, especially older women (e.g., mothers, relatives, and aunties). Participants also experienced pressures to achieve competing body and appearance ideals (“thin” and “healthy”). In addition, they reported pressures to possess light skin, dark black hair, minimal body hair, and marry young, and noted these pressures negatively impacted their body esteem. Findings indicate that a combination of “traditional” and culturally-influenced factors are important to consider when conceptualizing eating pathology and body image in young SA American women.

“Uneasy Lies the Head that Wears a Crown”: A Critical Race Analysis of the CROWN Act

Black hair in the United States remains misunderstood and othered against Eurocentric standards of beauty and professionalism as evidenced by the ongoing policing of Black hair in schools and workplaces. The CROWN Act of 2019 was passed in several states to protect Black adults and children from hair-biased discrimination, and was introduced to the United States Congress in December 2019. In September 2020, the CROWN Act passed in the US House of Representatives, however, it has not been passed in the Senate, yet. In this paper, I provide a critical race analysis of hair policies and challenges collected from news articles, the CROWN Research Study, and testimonies in support of the CROWN Act to demonstrate the importance of this bill’s passing at the federal level.

Growing up with black hair in the GTA: three women share their stories

The literature demonstrates that Black hair affects the identity of Black women. However, there is little research on how Black hair affects the identity of Canadian Black girls. For the purpose of this study, Black hair will refer to coiled textured hair, often referred to as “kinky”. The goal of the present study was to understand the effects of Black hair on the identity of Black girls between the ages of 5 and 12. Three Black women between the ages of 20 and 35 were asked to recall their experiences growing up in Canada with Black hair. Following a Black feminist approach, data was collected through story telling in an open-ended interview and four themes were identified : caring for Black hair, hair altering, the future of Black hair, and influences on Black hair styling. The women in the study have a hopeful vision for the future of Black hair. Keywords: Black hair, identity, Canadian context, childhood

Growing up with black hair in the GTA: three women share their stories

The literature demonstrates that Black hair affects the identity of Black women. However, there is little research on how Black hair affects the identity of Canadian Black girls. For the purpose of this study, Black hair will refer to coiled textured hair, often referred to as “kinky”. The goal of the present study was to understand the effects of Black hair on the identity of Black girls between the ages of 5 and 12. Three Black women between the ages of 20 and 35 were asked to recall their experiences growing up in Canada with Black hair. Following a Black feminist approach, data was collected through story telling in an open-ended interview and four themes were identified : caring for Black hair, hair altering, the future of Black hair, and influences on Black hair styling. The women in the study have a hopeful vision for the future of Black hair. Keywords: Black hair, identity, Canadian context, childhood

Silkscarf: Bringing Black hair Into the Gig Economy

This Major Research Project (MRP) explores the viability of and need for a black hair mobile application (app) that would provide a mapping of both hair salons and home-based mobile stylists using location-based data. Black women often have a hard time finding hairstylists due to the specific needs of black hair. This proposed product, tentatively titled SilkScarf, would connect customers to stylists who specialize in black hair, effectively solving the issue of access to black hair salons for black women in various black Caribbean and African communities. Because SilkScarf will serve both users and service providers, this MRP will detail the sense of community and economic agency that could be generated from such a product. This MRP will also explore how such a service would reconcile feelings of displacement, and unease that black women often deal with.

Silkscarf: Bringing Black hair Into the Gig Economy

This Major Research Project (MRP) explores the viability of and need for a black hair mobile application (app) that would provide a mapping of both hair salons and home-based mobile stylists using location-based data. Black women often have a hard time finding hairstylists due to the specific needs of black hair. This proposed product, tentatively titled SilkScarf, would connect customers to stylists who specialize in black hair, effectively solving the issue of access to black hair salons for black women in various black Caribbean and African communities. Because SilkScarf will serve both users and service providers, this MRP will detail the sense of community and economic agency that could be generated from such a product. This MRP will also explore how such a service would reconcile feelings of displacement, and unease that black women often deal with.