Results 101 to 110 of about 25,035 (239)

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]

, 2018
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del, Chowdhury, Shimul, Dimmock, David P, Jones, Marilyn C, Kingsmore, Stephen F, Nahas, Shareef A, RCIGM Investigators, Sweeney, Nathaly M   +7 more
core   +2 more sources

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

The Relationship between Perceived Social Support and Severity of Body Dysmorphic Disorder Symptoms: The Role of Gender [PDF]

, 2011
OBJECTIVE: Whether social support is associated with severity of body dysmorphic symptoms is unknown. To address this gap in the literature, the present study aims to examine the association between three domains of perceived social support (i.e., family,
LeBlanc, Nicole J, Marques, Luana, Siev, Jedidiah, Weingarden, Hilary M, Wilhelm, Sabine   +4 more
core   +3 more sources

Integrating social media into modern dermatology – a cross‐sectional study

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objective Social media is increasingly establishing itself as an important source of information for skin health. Although demand among users is high, very few dermatologists outside the Anglo‐American region use these platforms to provide patient information, and the majority of content is provided by non‐medical sources.
Maximilian Lammer, Marina Wanner, Paul Bellmann, Magdalena Seidl‐Philipp, Matthias Schmuth   +4 more
wiley   +1 more source

Complement to a theory of the cognitive distortions [PDF]

, 2006
The purpose of this study is to describe a conceptual framework for cognitive distortions, which notably allows to specify more accurately their intrinsic relationships. This conceptual framework aims at inserting itself within the apparatus of cognitive
Franceschi, Paul
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Synaptic ultrastructural alterations in human focal cortical dysplasia: Insights from volume electron microscopy

Epilepsia, EarlyView.
Abstract Objective Focal cortical dysplasia (FCD) is a developmental malformation of the cerebral cortex and a leading cause of drug‐resistant epilepsy in children and young adults. Disruption of the excitation–inhibition (E–I) balance is a hallmark of neuronal hyperexcitability in FCD, yet the underlying synaptic ultrastructural changes remain poorly ...
Gyu Hyun Kim, Na‐Young Seo, Seung‐Ki Kim, Jae‐Kyung Won, Yang Hoon Huh, Ji Yeoun Lee, Kea Joo Lee   +6 more
wiley   +1 more source

Narcissistic Traits and Narcissistic Personality Disorder in Dermatology With a Focus on Body‐Dysmorphic Disorder

International Journal of Dermatology, EarlyView.
There are many misconceptions about narcissistic personality disorder, not only in the public consciousness, but also in dermatological and aesthetic practice. Patients and their environment may both suffer from the symptoms. These conditions can be managed with psychotherapeutic interventions, but recognizing the psychological problem can be ...
Eszter Szlávicz, Péter Osváth, Jutta Major, Tamás Bancsók, Zsuzsanna Lengyel   +4 more
wiley   +1 more source

Clinical significance of renal histological diagnosis in patients with type 2 diabetes and proteinuria atypical for diabetic nephropathy

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Background/Aim Most patients with proteinuria are considered to have typical diabetic nephropathy (DN). However, when proteinuria occurs without diabetic retinopathy, with hematuria, or persists despite strict glycemic and blood pressure control, it is considered atypical for DN and warrants further evaluation for non‐DN via kidney biopsy ...
Shogo Kuwagata, Masami Chin‐Kanasaki, Aki Yamada, Tomonori Sakae, Nahomi Ishimoto, Yoshimi Imamura‐Uehara, Kosuke Yamahara, Mako Yasuda‐Yamahara, Sho Sugahara, Yuki Tanaka‐Sasaki, Natsumi Kuwata, Kimihiro Nishimura, Koichiro Murata, Itsuko Miyazawa, Shogo Ida, Natsuko Ohashi, Shinji Kume   +16 more
wiley   +1 more source

Associations Between Body Composition and Metabolic Health in Children With Obesity

Maternal &Child Nutrition, EarlyView.
ABSTRACT Childhood obesity is an increasing public health problem with heterogeneous metabolic health outcomes. In children, distinguishing differences in body composition between individuals with metabolically healthy obesity (MHO) and those with metabolic syndrome (MS) may be useful for understanding the impact of body composition on metabolic health.
Desiree Lopez‐Gonzalez, Patricia Clark, Nayely Garibay‐Nieto, Pamela Reyes‐Delpech, Rodolfo Pérez, America Miranda‐Lora   +5 more
wiley   +1 more source

بررسی فراوانی اختلال بدريختی بدن و اختلالات روانی توام با آن در داوطلبان جراحی زيبايی [PDF]

, 2013
مقدمه: اختلال بدريختی بدن، بيماری روانی است که 20% از داوطلبان جراحی پلاستيک آن را تجربه می‌کنند. اختلال بدريختی بدن بايد توسط جراحان مورد بررسی و شناخت قرار گيرد.
دالبند, محسن, رحيمی, عيلرضا, شمسائی, فرشيد, ضرابيان, محمدکاظم   +3 more
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