Pilomatrixoma. Revisión de 179 casos [PDF]
Presentamos un estudio sobre 179 casos de Pilomatrixoma recogidos en los archivos del Hospital General 'Vall d'Hebrón' de Barcelona, entre los años 1972 y 1988. Tumoración de presentación pediátrica, cerca del 50% de los casos se han observado en menores
Berini Aytés, Leonardo +3 more
core
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Disseminated Intravascular Coagulation after Surgery for Facial Injury
A case of disseminated intravascular coagulation (DIC) presenting after surgery for facial trauma associated with multiple facial bone fractures is described.
Hisashi Ozaki +5 more
doaj +1 more source
Frecuencia de tumores de origen Odontogénico en los maxilares en pacientes atendidos en el Hospital Escuela Dr. Roberto Calderón Gutiérrez en el período comprendido de Enero de 2006 a Octubre de 2009 [PDF]
Este es un estudio descriptivo de corte transversal realizado en el Hospital Escuela Dr. Roberto Calderón Gutiérrez, en el periodo comprendido del año 2006 a 2009, estudiándose la frecuencia de los tumores de origen odontogénico en las clínicas de ...
González Chavarría, Gabrie
core
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Estudio anatómico de los órganos productores de la voz [PDF]
El conocimiento de la anatomía es esencial en los estudios de medicina. En este trabajo se plantea el estudio de las estructuras anatómicas implicadas en la producción vocal mediante la realización de diferentes disecciones anatómicas en cadáver. Se han
Taranilla Santos, Leonía
core
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
Surface Functional Electrical Stimulation (FES) is a well-studied intervention for multiple muscular disorders. However, it is still controversially discussed as a complementary therapy for complete facial paralysis.
Johannes Krauß +10 more
doaj +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source

