Results 141 to 150 of about 220,534 (360)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Discussion on Satisfaction and Loyalty of Women with Pelvic Treatment in Postpartum Period

open access: yesEngineering Proceedings
The satisfaction and loyalty of women in the postpartum period with their pelvic health and related treatment were investigated to provide a reference for the decision-making of operators.
Wann-Jyi Horng, Ming-Chia Yeh
doaj   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou   +7 more
wiley   +1 more source

Cloudy urine in the postpartum period [PDF]

open access: yesKidney International, 2017
Frank L. Ward, James W. Scholey
openaire   +3 more sources

Postpartum Mental Health among Young Women [PDF]

open access: yes, 2012
Background: A number of studies have highlighted the physical health problems associated with adolescent pregnancy in Saudi Arabia , However there were few studies dealing with the postpartum psychiatric disorders .The study aims to determine the ...
Al Moghannum, M, Amr, MA, Balaha, M
core  

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

A companion to the preclinical common data elements for phenotyping seizures and epilepsy in rodent models. A report of the TASK3‐WG1C: Phenotyping working group of the ILAE/AES joint translational task force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy is a heterogeneous disorder characterized by spontaneous seizures and behavioral comorbidities. The underlying mechanisms of seizures and epilepsy across various syndromes lead to diverse clinical presentation and features. Similarly, animal models of epilepsy arise from numerous dissimilar inciting events.
Melissa Barker‐Haliski   +3 more
wiley   +1 more source

Stress indicators in the post-partum period and their relation with women’s mood in the puerperium

open access: yesNURE Investigación, 2013
The aim of this research project is to study the relationships among physiological indicators of stress, maternal hormone levels and mood in the early postpartum, and their possible association with psychological problems during the puerperium.
Dolores Marín Morales   +6 more
doaj  

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