Results 351 to 360 of about 1,913,301 (392)

The association between cerebral small vessel disease and unfavorable hematoma morphology in primary intracerebral hemorrhage. [PDF]

Ann Med
Jiang W, Li X, Tan Y, Guo W, Zhang S, Wu B, Ma L, Liu M, Xu M.   +8 more
europepmc   +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

Management of adolescent scoliosis: a comprehensive review of etiology and rehabilitation. [PDF]

Front Pediatr
Kuang H, Chen L, Huang M, Chen J.
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Evaluation of the Etiology of Granulomatous Lymphadenopathy in Children Admitted to a Tertiary Pediatric Infectious Clinic. [PDF]

Turk Arch Pediatr
Cetin FT, Çay Ü, Gündeslioğlu ÖÖ, Alabaz D, Totik N, Uğuz AH.   +5 more
europepmc   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

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

American 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, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Observations on seasonal occurrence in lymphomas with proven or presumed infectious etiology. [PDF]

Front Oncol
Anagnostopoulos I, Buck V, Gerhard-Hartmann E, Zamó A, Rosenwald A, Rosenfeldt M, Jöhrens K.   +6 more
europepmc   +1 more source

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

American 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, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Lenvatinib Is Highly Effective in Patients with Hepatocellular Carcinoma Related to Both Metabolic Dysfunction-Associated Steatohepatitis and Alcoholic Etiology: A Propensity Score Analysis. [PDF]

Cancers (Basel)
Sacco R, Giannini EG, Tortora R, Di Costanzo GG, Mega A, Marzi L, Pieri G, Pasta A, Daniele B, Federico P, Cabibbo G, Russello M, Cocuzza C, Giacomelli L, Silletta M, Gallo P, Gentilucci UV, Casadei-Gardini A, Claar E, Pellicelli A, Bellini M, Morisco F, Tatali C, Pace Palitti V, Izzi A, Di Stefano M, Rinaldi L, Facciorusso A, A.I.G.O. (Italian Association of Hospital Gastroenterologists) and C.L.E.O. (Italian Association of Hospital Hepatologists).   +28 more
europepmc   +1 more source