Electron transport chain (ETC) disorders are a group of rare, multisystem diseases caused by impaired oxidative phosphorylation and energy production. Deficiencies in complex III (CIII), also known as ubiquinol–cytochrome c reductase, are particularly rare in humans. Ubiquinol–cytochrome c reductase core protein 2 (UQCRC2) encodes a subunit of CIII that plays a crucial role in dimerization. Several pathogenic UQCRC2 variants have been identified in patients presenting with metabolic abnormalities that include lactic acidosis, hyperammonemia, hypoglycemia, and organic aciduria. Almost all previously reported UQCRC2-deficient patients exhibited neurodevelopmental involvement, including developmental delays and structural brain anomalies. Here, we describe a girl who presented at 3 yr of age with lactic acidosis, hyperammonemia, and hypoglycemia but has not shown any evidence of neurodevelopmental dysfunction by age 15. Whole-exome sequencing revealed compound heterozygosity for two novel variants in UQCRC2: c.1189G>A; p.Gly397Arg and c.437T>C; p.Phe146Ser. Here, we discuss the patient's clinical presentation and the likely pathogenicity of these two missense variants.

The 12th Annual MORE/FITNESS/SHAPE Women�s Half-Marathon on April 19, 2015 in New York�s Central Park

Behind the scenes with Elizabeth Goodman Artis, Natalie Morales, Danielle Brooks, Padma Lakshmi and Sara Bareilles at the 2016 MORE/SHAPE Women�s Half-Marathon in Central Park on April 17.

Notice medlinkweight gain/medlink, hot flashes, or decreased libido? Male menopause, often disregarded, mirrors female menopause stemming from dwindling ovarian reserve.

S. Padmavati, our nation's first female cardiologist, has passed away due to COVID-19 at the age of 103 after battling the disease for 11 days. In a statement on Sunday, O.

Intact America Blasts American Academy of Pediatrics' Call To Weaken U.S. Ban on All Forms of Female Genital Cutting as

A video recently surfaced on social media showing Virat Kohli being approached by a female fan in Mumbai, who grabbed his arm to take a selfie. Despite the fan's desperation to get the perfect picture, Kohli remained calm and still and posed with the fan.

While self-employment schemes in Jammu and Kashmir aim to support youth employment, allegations of corruption have surfaced. Anti-graft panel registered an FIR against former Assistant Director Employment Shabnam Arif Mir and others for allegedly accepting bribes from a local dealership.

Australia has fallen back to pre-2007 performance on female economic empowerment with one of the biggest annual declines among OECD countries according to PwC's annual Women in Work index.

Manchester : Manchester University Press, [2020]

Manchester : Manchester University Press, [2019]

Manchester : Manchester University Press, 2020.

Manchester : Manchester University Press, [2018]

Turnhout : Brepols, [2023]

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The Banking, Financial Services, and Insurance (BFSI) sector, has the highest percentage of women representation at 26 per cent

A better female labour force participation rate can improve overall family income and welfare, especially in rural India

National Bureau of Economic Research

Share of women parliamentarians has never exceeded 15% in the past general elections

The world body is also set to get a new chairman after incumbent Greg Barclay's refusal to seek a third term. Nooyi, who became ICC's first independent woman director in 2018, has completed her full term

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In Focus: Marketing Hall of Femme honoree Leontyne Greene-Sykes, Ikea U.S.'s former chief marketer, discusses keys to success for female marketers, and misconceptions about marketing.

The provincial government in Pakistan's Sindh province is planning a literacy program to reach women and girls in remote areas via cell phones.

At Mutobo camp, former fighters spend three months being rehabiliated after returning from the DRC

Octavius was almost a "Big Lebowski type dude."

Recognizing a need to develop new and valuable opportunities for female performing artists and music industry professionals, Ebonnie Rowe launched Honey Jam back in 1995 as an artist showcase and professional development program dedicated entirely to female performers. In the years since, she and her collaborators have worked tirelessly to encourage more women to step up and over the barriers limiting their potential and empowered them with the tools, knowledge, and skills to do so.

This week, Ebonnie joins us to talk about the 2019 edition of Honey Jam, the progress we've made as an industry in generating representation and opportunities for women and other marginalized groups, and more.

Then, Toronto-based artist Denver Haylee joins us to talk about her experience at Honey Jam 2018 and the progress she's made navigating the industry since. We also get into some of the challenges facing women - specifically women of colour - in Canada and share some ideas on how those can be overcome individually and collectively.

If you're in or around Toronto, mark your calendar - the 2019 Honey Jam Concert happens Thurs., Aug. 22 at the Mod Club.

You're in for some good luck if your boss has a daughter. A recent study revealed how men having a daughter tend to be

The American star claimed the award for Best International Female Artist from Spice Girl Mel C, just moments after a stirring performance of new James Bond theme No Time To Die.

The legendary singer, 55, couldn't hide her delight as her Mad Love hitmaker daughter, 23, was announced as a winner and went on stage to pick up her prize.

DALEY THOMPSON: Ennis-Hill would be among the five greatest British female athletes of all time and, had she not suffered a few injuries over the years, she could have been one of our best athletes in history.

The man who inspired Jessica Ennis-Hill to become the world's leading female athlete will be handed an official warning about his conduct by British Athletics. 

Dame Jessica Ennis-Hill has called for 'standardised' arrangements to be put in place to support female athletes who want to have children.

The Social Work Research Centre addresses community problems by building upon people's skills, and placing the solutions in their own hands.

Character assassination, social and economic ostracisation and even assault, seem to have become the standard responses to all who protest against the culture of violence against women in West Bengal. Shikha Mukerjee reports on the ground realities in the state.

Native to Africa and Madagascar, females of the species have a body length of 1.5 inches and a leg span of 4 to 5 inches. Males are tiny in comparison.

The post Females are giants in newly discovered species of golden orb weaver spider appeared first on Smithsonian Insider.

“Two things appear to be going on here,” explains Jacobus Boomsma, professor at the University of Copenhagen and Research Associate at STRI. “Right after mating there is competition between sperm from different males. Sperm is expendable. Later, sperm becomes very precious to the female who will continue to use it for many years to fertilize her own eggs, producing the millions of workers it takes to maintain her colony.”

The post Females shut down male-male sperm competition in leafcutter ants appeared first on Smithsonian Insider.

Scientists at the Smithsonian’s National Zoo detected a secondary rise in urinary progesterone levels in the Zoo’s female giant panda Mei Xiang (may-SHONG). This hormone rise indicates that it should be 40 to 50 days before Mei Xiang either gives birth to a cub or comes to the end of a pseudopregnancy, or false pregnancy, which is common in giant pandas.

The post Hormone tests show Mei Xiang, the National Zoo’s female giant panda, may be pregnant appeared first on Smithsonian Insider.