An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Few rights, great threats, endless struggles: setbacks and resistance in the last decade of fights for legal abortion in Brazil. [PDF]
Cardoso NM +4 more
europepmc +1 more source
Effects of different fluid management on lung and kidney during pressure-controlled and pressure-support ventilation in experimental acute lung injury. [PDF]
de Carvalho EB +14 more
europepmc +1 more source
Estado de direito e «tradicionalismo» liberal
openaire +1 more source
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Parliamentary amendments aimed at the Brazilian Unified National Health System and the reelection of municipal mayors in Brazil in 2024. [PDF]
Leal JGRP +3 more
europepmc +1 more source
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
Business entrepreneurship in nursing care facilities in Brazil: an ecological study. [PDF]
Silva MM +5 more
europepmc +1 more source
The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut +3 more
wiley +1 more source
The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness
ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms.
Melody T. Asukile +3 more
wiley +1 more source

