Results 81 to 90 of about 2,712,287 (341)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

From transformation to chronification of migraine: pathophysiological and clinical aspects

The Journal of Headache and Pain, 2020
Chronic migraine is a neurological disorder characterized by 15 or more headache days per month of which at least 8 days show typical migraine features.
M. Torres-Ferrús, F. Ursitti, A. Alpuente-Ruiz, F. Brunello, D. Chiappino, T. de Vries, S. Di Marco, S. Ferlisi, L. Guerritore, N. Gonzalez-Garcia, A. Gonzalez-Martinez, D. Khutorov, M. Kritsilis, A. Kyrou, T. Makeeva, A. Minguez-Olaondo, L. Pilati, A. Serrien, O. Tsurkalenko, D. Van den Abbeele, W. S. van Hoogstraten, C. Lampl, On behalf of School of Advanced Studies of European Headache Federation (EHF-SAS)   +22 more
doaj   +1 more source

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

American 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, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

1H-MRS reveals abnormal energy metabolism and excitatory-inhibitory imbalance in a chronic migraine-like state induced by nitroglycerin in mice

The Journal of Headache and Pain
Background Chronic migraine is closely related to the dysregulation of neurochemical substances in the brain, with metabolic imbalance being one of the proposed causes of chronic migraine.
Jinggui Gao, Da Wang, Chenlu Zhu, Jian Wang, Tianxiao Wang, Yunhao Xu, Xiao Ren, Kaibo Zhang, Cheng Peng, Jisong Guan, Yonggang Wang   +10 more
doaj   +1 more source

Mechanisms of migraine as a chronic evolutive condition

The Journal of Headache and Pain, 2019
Understanding the mechanisms of migraine remains challenging as migraine is not a static disorder, and even in its episodic form migraine remains an “evolutive” chronic condition.
Anna P. Andreou, Lars Edvinsson
doaj   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

μ‐Opioid Receptor Dynamics in the Parameningeal Tissue During Migraine Attacks

Annals of Neurology, EarlyView.
Objective The possible impact of meningeal μ‐opioid receptor (μOR) binding in migraine remains unknown. This study investigated μOR availability in the cranial parameninges involved in migraine initiation via nociceptor activation. Methods We used positron emission tomography with [11C] carfentanil, and measured μOR availability in meninges and ...
Dajung J. Kim, Manyoel Lim, Thiago D. Nascimento, Frank Porreca, Robert A. Koeppe, Nouchine Hadjikhani, Alexandre F. DaSilva   +6 more
wiley   +1 more source

Plasma levels of CGRP and expression of specific microRNAs in blood cells of episodic and chronic migraine subjects: towards the identification of a panel of peripheral biomarkers of migraine?

The Journal of Headache and Pain, 2020
Background Migraine can manifest with an episodic or a chronic pattern in a continuum of disease severity. Multiple factors are associated with the progression of the pattern from episodic to chronic.
R. Greco, R. De Icco, C. Demartini, A. Zanaboni, Elena Tumelero, G. Sances, M. Allena, C. Tassorelli   +7 more
semanticscholar   +1 more source

Trends in gabapentinoid prescribing: A nationwide Danish drug utilization study

British Journal of Clinical Pharmacology, EarlyView.
Aims Pregabalin and gabapentin are increasingly used for pain and other conditions. Concerns exist about overuse as well as potential misuse and abuse. To guide rational prescribing practices, we provide detailed nationwide data on the use of gabapentinoids in Denmark.
Anton Pottegård, Lotte Rasmussen, Morten Olesen, Anne Mette Skov Sørensen, Zandra Nymand Ennis, Joseph Kane, Sarah Baxter, Blánaid Hicks   +7 more
wiley   +1 more source