Results 51 to 60 of about 24,057 (201)

Neurofibromatosis Type I - A Pigmentary Anomaly

Indian Journal of Dermatology, 2004
We describe two cases of neurofibromatosis type I with innumerable pigmented macules involving whole integument including palms and soles with only occasional neurofibromas and seek to differentiate the condition from other genodermatoses with pigmentary
Khandpur Sujay, Sharma Vinod K
doaj  

Elephantiasis Neuromatosa in Neurofibromatosis Type I Mimicking Venocapillary Malformation

International Journal of Anatomy Radiology and Surgery, 2019
Elephantiasis neuromatosa is a rare clinical manifestation associated with the Neurofibromatosis Type 1 (NF1). A 14-year-old male presented with progressive non-tender swelling of left arm and forearm since birth, axillary freckling, café-au-lait macules
RISHIKANT SINHA, PRANAV KUMAR SANTHALIA, SUBHASH KUMAR, PREM KUMAR, S APARNA   +4 more
doaj   +1 more source

Generalized metabolic bone disease in Neurofibromatosis type I [PDF]

Molecular Genetics and Metabolism, 2008
Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized metabolic bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (
BRUNETTI PIERRI, NICOLA, Doty SB, Hicks J, Phan K, Mendoza Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, Smith EO, Ellis KJ, Lee B.   +13 more
openaire   +3 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

NEUROFIBROMATOSIS TYPE 1 IN A 32 YEAR OLD FEMALE: AN INTERESTING CASE REPORT

National Journal of Medical Research, 2014
Neurofibromatosis (NF) is characterized by neuroectodermal tumours arising within multiple organs withautosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen’s disease, is themost common type of the disease ...
Subrata Chakrabarti
doaj  

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Serum Midkine as a Biomarker for Hepatocellular Carcinoma Treatment Response and Prognostication

Journal of Clinical Laboratory Analysis, EarlyView.
Up‐to‐date, tumor markers are considered more helpful in the evaluation of treatment response and prognostication rather than diagnosis. Identifying a valid biomarker to help clinical management of hepatocellular carcinoma (HCC) is still a challenge, especially the alpha‐fetoprotein (AFP) negative HCC. This study evaluated the efficacy of serum Midkine
Yanfang Luo, Qiuwei Lu, Jing Huang, Liejun Jiang   +3 more
wiley   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Nail Toxicities Associated With Anticancer Therapies in Children

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail toxicities are a frequent yet often underrecognized component of dermatologic adverse events in children receiving anticancer therapies. Both conventional cytotoxic chemotherapy and newer targeted agents can affect the nail matrix, nail bed and periungual tissues, producing a broad spectrum of clinical manifestations that range from ...
Luca Rapparini, Michela Starace
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source