Results 81 to 90 of about 361,800 (263)

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

Le centre de conservation et d’étude de Lons-le-Saunier : un modèle sans faille ?

In Situ, 2012
The Worksite of the Center for Conservation and Studies of Lons-le-Saunier (France, Jura) was driven by the aim to be a positive energy building. In order to do so, many solutions have been brought out to regulate the climate in the most passive possible
Élise Cousin
doaj   +1 more source

Experiences of Drainage and Associated Impacts: A Qualitative Study Among Patients With Hidradenitis Suppurativa

JEADV Clinical Practice, EarlyView.
This study provides an in‐depth account of patients' experiences of drainage as a symptom of hidradenitis suppurativa. The HIDE Scale© facilitates incorporation of these insights into clinical practice, supporting person‐centred approaches that enhance clinical assessment, reduce stigma, and strengthen patient–clinician communication.
Stine Thestrup Hansen, Bente Villumsen, Mina Shereen Khaled, Terri Shih, Steven Daveluy, Amit Garg, Susanne de Goeij, Barry M. McGrath, Peter Theut Riis, Kari Zalik, Jennifer L. Hsiao, Camilla G. Frederiksen, Noor F. Goandal, Hans Christian Ring, Joseph Dowsett, Rahul Masson, John R. Ingram, Gregor B. E. Jemec, Joslyn S. Kirby, Linnea Thorlacius, the HIdradenitis SuppuraTiva cORe outcomes set International Collaboration (HiSTORIC)   +20 more
wiley   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

Journal of Medical Ethics and History of Medicine, 2017
Consanguineous marriage, which is common in many regions in the world,  has absorbed much attention as a causative factor in raising the incidence of genetic diseases.
Narges Nouri, Nayereh Nouri, Samane Tirgar, Elham Soleimani, Vida Yazdani, Farzaneh Zahedi, Bagher Larijani   +6 more
doaj  

The Role of Obesity in the Association Between Alcohol Consumption and HDL‐c Levels: Baependi Heart Study

Lipids, EarlyView.
ABSTRACT Cardiovascular diseases (CVD) are a leading cause of global mortality, with dyslipidemia playing a central role in their pathogenesis. The influence of alcohol consumption on lipid profiles, particularly high‐density lipoprotein cholesterol (HDL‐c), in relation to obesity status remains insufficiently explored.
Larissa Esthefani Barros Cirino, Divanei Zaniqueli, Oscar Geovanny Enriquez‐Martinez, Camila Maciel de Oliveira, Alexandre da Costa Pereira, Jordana Herzog Siqueira, Rafael de Oliveira Alvim   +6 more
wiley   +1 more source

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

La coévolution de l’informatique et de son histoire

Interfaces Numériques, 2018
Cet article se propose de montrer de quelle manière l’informatique et l’écriture de son histoire ont évolué conjointement, passant d’une vision internaliste et d’une fascination pour la machine et le matériel, à la prise en compte de « l’ordinateur en ...
Benjamin Thierry, Valérie Schafer
doaj   +1 more source

Letter from Don to Ellen April 8, 1942

, 1942
This is a sweet little letter written by Don to his cousin Ellen telling about what he was doing and the things he ...
George Fox University Archives
core  

Arbuscular mycorrhiza in the urban jungle: Glomeromycotina communities of the dominant city tree across Amsterdam

PLANTS, PEOPLE, PLANET, EarlyView.
Trees in cities provide a great number of benefits to people and nature, but they are challenged by harsh conditions. Trees rely on helpful fungi in their roots to get essential nutrients from the soil, but we do not know which of these fungi are resistant to city landscapes.
Casper T. Verbeek, Sofia I. F. Gomes, Vincent S. T. F. Merckx   +2 more
wiley   +1 more source