Results 61 to 70 of about 31,428 (320)

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Síndrome de pessoa-rígida e ataxia cerebelar com teste anti-GAD positivo: duas condições clínicas tratáveis as quais o médico deve permanecer atento [PDF]

, 2012
Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Neurology, Movement Disorders UnitUNIFESP, EPM, Neurology, Movement Disorders ...
Ferraz, Henrique Ballalai
core   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

A Case of Stiff Person Syndrome

Annals of Internal Medicine: Clinical Cases
We describe a case of confirmed stiff person syndrome in an 86-year-old woman who initially presented for acute right lower-extremity pain and swelling. Her symptoms developed 10 days after her right foot was penetrated by a sewing needle.
Jesse E. Menville, Edward Richardson, Griffin Reed, Marguerite A. Neill, Syed R. Naqvi   +4 more
doaj   +1 more source

Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Biomedicines, 2023
Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment ...
Benjamin Vlad, Yujie Wang, Scott D. Newsome, Bettina Balint   +3 more
doaj   +1 more source

Utilization of Dantrolene in Stiff-Person Syndrome: A Case Report [PDF]

, 2009
Setting: University hospital-based acute rehabilitation. Patient: 75-year-old woman with Stiff-Person Syndrome (SPS) with a recent fall and Colles fracture.
Ankam, MD, Nethra S., Fetouh, MD,, S. Kamal, Schreiber, DO, MA, Adam L., Vasudevan, MD, John M.   +3 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Stiff-person syndrome with oculomotor and cerebellar disturbances

Анналы клинической и экспериментальной неврологии, 2017
Stiff-person syndrome is a rare sporadic disorder of the centralnervous system of unknown etiology. In the paper, a case of awoman with axial muscle rigidity, cerebellar and eye movementdisturbances is presented.
N. N. Yakhno, V. V. Golubeva, Yu. V. Mozolevsky, O. E. Zinovyeva, E. A. Katushkina, B. S. Shenkman, I. N. Chistyakov, Z. A. Podlubnaya, I. M. Vikhlyanzev   +8 more
doaj   +1 more source

Transformations of self: a phenomenological investigation into the lived experience of survivors of critical illness [PDF]

, 2003
Based on the hermeneutical, phenomenological perspective, this study explored the lived experience of individuals with a past hospitalization in an intensive care unit, with focus on their dreams.
Papathanassoglou, Elizabeth, Patiraki, Elisabeth   +1 more
core   +2 more sources

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source