Results 101 to 110 of about 692,688 (294)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Sequence‐Encoded Frustration Directs the Formation of Abridged G‐Quadruplex Architectures

Angewandte Chemie, EarlyView.
Programmable frustration reshapes the free‐energy surface (FES) of guanine‐quadruplex (G4) folding, stabilizing an abridged G4 and a G‐triplex intermediate. ABSTRACT Frustration—competing interactions that cannot be simultaneously optimized—shapes energy landscapes in proteins and soft matter, but has rarely been exploited as a programmable design ...
Yuncheng Qian, Mohamed Y. Ali, Andreas I. Karsisiotis, Paul Dillon, Scarlett A. Dvorkin, Peter A. C. McPherson, Mateus Webba da Silva   +6 more
wiley   +2 more sources

Geomatica e telerilevamento per le fasce tampone di vegetazione lungo i corsi d’acqua

GEOmedia, 2012
La salvaguardia del territorio europeo è uno degli obiettivi della cosiddetta ‘Condizionalità Agro-ambientale’ che mira a diffondere l’uso corretto e illuminato di buone pratiche agricole che, nell'ottica dei nuovi requisiti, sono indirizzate alla ...
Daniele Biscontini, Giulio Monaldi, Paolo Tosi, Livio Rossi   +3 more
doaj  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

A Postbiotic Derived from Lactobacillaceae Protects Intestinal Barrier Function in a Challenge Model Using Colon Organoid Tubules

Foods
Postbiotics may help strengthen intestinal barrier function. This study assessed the effects of a postbiotic derived from Limosilactobacillus fermentum and Lactobacillus delbrueckii subsp. lactis on epithelial barrier and cytokine production.
Colin I. Cercamondi, Igor Bendik, Erik Eckhardt, Tim Mak, Nicole Seifert, Karin Kuratli, Nathalie Richard, Balint Tamasi, Bernd Mussler, Eva Wintergerst   +9 more
doaj   +1 more source

Sex Addiction: the Chicken-and-Egg Dilemma of Diagnosis [PDF]

, 2013
In May 2013, the American Psychiatric Association will release the next version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). Interestingly, sex addiction, despite significant attention from mainstream media, will be omitted from ...
Berry, MD
core  

Dynamical Systems Method for ill-posed equations with monotone operators

, 2004
Consider an operator equation (*) $B(u)-f=0$ in a real Hilbert space. Let us call this equation ill-posed if the operator $B'(u)$ is not boundedly invertible, and well-posed otherwise.
A.G. Ramm, Ramm, Ramm
core   +3 more sources

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Present and future trajectories towards a possible valid and useful diagnosis of ADHD [PDF]

, 2016
To date, diagnosing Attention Defi cit Hyperactivity Disorder remains indeed one of the most controversial issues in contemporary psychiatry and behavioural sciences.
De Rossi, Piero
core