Results 51 to 60 of about 11,542 (205)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Ethnobotanical and genetic assessments of Central American avocado landraces reveal novel sources of biodiversity and ancient migration patterns

PLANTS, PEOPLE, PLANET, EarlyView.
Avocados are a multibillion‐dollar global commodity, but their growing export market pressures local farmers to abandon local fruit tree diversity in favor of commercial cultivar production. Interviews with rural avocado farmers and households from the Southern Mexican Highlands, Pacific Coastal Honduras, and Western Nicaragua, as well as the genetic ...
Kevin Wann, Heather B. Thakar, Courtney A. Hofman, Hector Neff, Logan Kistler   +4 more
wiley   +1 more source

The Impact of “Mother‐Friendly Care” Accreditations on Patient Choice: Evidence From Brazil

Southern Economic Journal, EarlyView.
ABSTRACT We examine the impact of Brazil's “Mother‐Friendly Care” accreditation program on hospital choice. Using administrative data on births in the Brazilian public health system from 2008–2019, we estimate a nested logit demand model that allows for differential substitution patterns based on existing Baby‐Friendly Hospital Initiative (IHAC ...
Cici McNamara, Felipe Rocha Campos
wiley   +1 more source

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

JCRPE, 2019
Objective:Classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is characterized by increased prenatal adrenal androgen secretion.
Helmuth G. Dörr, Theresa Penger, Andrea Albrecht, Michaela Marx, Thomas M. K. Völkl   +4 more
doaj   +1 more source

Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor [PDF]

Endocrinology and Metabolism, 2015
Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women
Su Jin Lee, Je Eun Song, Sena Hwang, Ji-Yeon Lee, Hye-Sun Park, Seunghee Han, Yumie Rhee   +6 more
doaj   +1 more source

CLAIMING SOCIAL HOUSING FUTURES: Value, Risk and the Temporal Politics of Income Strip Financing in London

International Journal of Urban and Regional Research, EarlyView.
Abstract Asset managers, private equity firms and other institutional investors have assumed an increasingly important role in the ownership and management of housing and infrastructure since the Global Financial Crisis. This article analyses how social housing in London is being transformed into a financial asset through an analysis of ‘income strip ...
Aretousa Bloom, Joe Penny
wiley   +1 more source

Pruning slash drives ambrosia beetle (Curculionidae: Scolytinae, Platypodinae) activity in Khaya grandifoliola C.DC.: Slash removal as a preventive management strategy Resíduos de poda aumentam a atividade de besouros da ambrosia (Curculionidae: Scolytinae, Platypodinae) em Khaya grandifoliola C.DC.: A remoção dos resíduos como estratégia preventiva de manejo

Agricultural and Forest Entomology, EarlyView.
Slash retention increased ambrosia beetle activity in Khaya grandifoliola, acting as both breeding substrate and source of attractive volatile cues that promoted localized population buildup. Beetle attacks occurred only near retained slash, while no attacks were recorded in slash‐removal plots, demonstrating that residue removal effectively prevents ...
Luana de Souza Covre, Carlos Alberto Hector Flechtmann   +1 more
wiley   +1 more source

CEBPB promotes transformation of endometrial complex atypical hyperplasia to endometrial cancer

BMC Cancer
Background As the precursor malignancy of endometrial cancer (EC), about 50% of endometrial complex atypical hyperplasia (CAH) will eventually progress to EC. Elucidating the underlying transformation mechanisms could aid in disease management.
Jiahong Tan, Lin Zhao, Daoqi Wang, Xiaodie Wu, Yongxiang Bi, Hanying Wang, Na Ma, Dehong Yang, Wei Dong, Jie Zhang   +9 more
doaj   +1 more source

A Narrative Review of the Factors Impacting Solid Organ Transplant Recipient Participation in Skin Cancer Screening

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Solid organ transplant recipients (SOTRs) are at a significantly elevated risk of cutaneous malignancy due to the requirement for lifelong immunosuppressive medications. Regular full skin examinations (FSEs) with a specialist clinician are recommended by most guidelines and are critical for early skin cancer detection.
Will Swansson, Alvin H. Chong
wiley   +1 more source

Arterial stiffness and shortened QTc interval are associated with androgen and ACTH levels in classic congenital adrenal hyperplasia

Frontiers in Endocrinology
ContextCardiometabolic complications are increasingly recognized in congenital adrenal hyperplasia (CAH) due to 21β-hydroxylase deficiency, but adult data remain limited.ObjectiveTo evaluate cardiovascular and metabolic alterations in adult patients with
Lorenzo Campioni, Lorenzo Campioni, Maria Chiara Di Carlo, Maria Chiara Di Carlo, Chiara Sola, Chiara Sola, Beatrice Bergoglio, Beatrice Bergoglio, Martina Bollati, Martina Bollati, Giulia Montesano, Federico Ponzetto, Federico Ponzetto, Chiara Lopez, Chiara Lopez, Giovanna Motta, Giovanna Motta, Mirko Parasiliti-Caprino, Mirko Parasiliti-Caprino, Roberta Giordano, Roberta Giordano   +20 more
doaj   +1 more source