Results 61 to 70 of about 35,670 (271)

Papulocistic lesions of the face: the tip of the iceberg

Senses and Sciences, 2015
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of
Nevena Skroza, Sara Zuber, Ersilia Tolino, Ilaria Proietti, Nicoletta Bernardini, Riccardo Pampena, Veronica Balduzzi, Giorgio La Viola, Concetta Potenza   +8 more
doaj   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis [PDF]

Journal of Clinical and Diagnostic Research
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors.
Dinkar Yadav, Poonam Dalal, Kapil Bhalla, Geeta Gathwala   +3 more
doaj   +1 more source

Bayesian matching of unlabeled marked point sets using random fields, with an application to molecular alignment [PDF]

Annals of Applied Statistics 2011, Vol. 5, No. 4, 2603-2629, 2012
Statistical methodology is proposed for comparing unlabeled marked point sets, with an application to aligning steroid molecules in chemoinformatics. Methods from statistical shape analysis are combined with techniques for predicting random fields in spatial statistics in order to define a suitable measure of similarity between two marked point sets ...
arxiv   +1 more source

Nonsense mutation causing steroid 21-hydroxylase deficiency. [PDF]

Journal of Clinical Investigation, 1988
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon.
Hadas Globerman, Keith L. Parker, Perrin C. White, Maria I. New, Mounira Amor   +4 more
openaire   +3 more sources

Fresh insights into the light‐induced pineal gland circadian rhythm transmission mechanism derived from mRNA and miRNA profiling

Animal Research and One Health, EarlyView.
Mechanisms of light in regulating the chick pineal clock. Abstract The circadian clock significantly impacts animal health and productivity, with light playing a crucial role in regulating circadian rhythms. However, the mechanisms behind light‐induced circadian transmission remain unclear, particularly in light‐sensitive avian species.
Yunlei Li, Yanyan Sun, Jingwei Yuan, Xiangchen Li, Lei Shi, Adamu Mani Isa, Yuanmei Wang, Pingzhuang Ge, Yunhe Zong, Panlin Wang, Jilan Chen   +10 more
wiley   +1 more source

A head start: The relationship of placental factors to craniofacial and brain development

Developmental Dynamics, EarlyView.
Abstract In recent years, the importance of placental function for fetal neurodevelopment has become increasingly studied. This field, known as neuroplacentology, has greatly expanded possible etiologies of neurodevelopmental disorders by exploring the influence of placental function on brain development.
Annemarie Jenna Carver, Martine Dunnwald, Hanna Elizabeth Stevens   +2 more
wiley   +1 more source

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source

Engineered Living Energy Materials

Interdisciplinary Materials, EarlyView.
Engineered living energy materials (ELEMs) are nascent research frontier for enabling sustainable energy conversion and storage. These materials exhibit unique characteristics such as self‐regeneration, biodegradability, environmental response, and evolutionary adaptability. This paper overviews different energy conversion bio‐modules, summarizes their
Xinyi Yuan, Haiyi Xu, Xingwu Liu, Jicong Zhang, Jing Li, Qianyi Liang, Bolin An, Giuseppe Maria Paternò, Minyue Zhang, Yuqing Tang, Chen Zhang, Dake Xu, Chao Zhong, Ke Li, Xinyu Wang   +14 more
wiley   +1 more source

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: laboratory criteria for the diagnosis and control of treatment efficacy

Mìžnarodnij Endokrinologìčnij Žurnal, 2019
Non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the actual causes of hyperandrogenic manifestations at different age intervals.
O.V. Rykova
doaj   +3 more sources