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Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.
View Article and Find Full Text PDFWhat can neurodiversity tell us about inner speech, and vice versa? A theoretical perspective.
Cortex
November 2023
Department of Psychology, University of Sunderland, UK.
Inner speech refers to the experience of talking to oneself in one's head. While notoriously challenging to investigate, it has also been central to a range of questions concerning mind, brain, and behaviour. Posited as a key component in executive function and self-regulation, inner speech has been claimed to be crucial in higher cognitive operations, self-knowledge and self-awareness.
View Article and Find Full Text PDFAn unusual presentation of scrub typhus in a child: a case report.
BMC Pediatr
February 2022
Department of Pediatrics, Phuentsholing Hospital, Ministry of Health, Phuentsholing, Bhutan.
Background: Scrub Typhus (ST) is an acute, febrile zoonotic disease caused by the bacterium Orientia tsutsugamushi which is endemic to the Asia-Pacific region. Infected adults rarely present with sensorineural hearing loss and otalgia. Though few cases of pediatric cases are known to present with otalgia, no pediatric cases of sensorineural deafness complicating ST have been reported to date.
View Article and Find Full Text PDFA case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.
Ital J Pediatr
April 2020
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, Milan, Italy.
Background: An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis.
Methods: Medical records of patients with CHARGE syndrome whose diagnosis was made at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico in Milan, Italy were retrospectively reviewed.
Preoperative vestibular assessment protocol of cochlear implant surgery: an analytical descriptive study.
Braz J Otorhinolaryngol
December 2017
Universidade de São Paulo (USP), Escola de Medicina, Departamento de Otorrinolaringologia, São Paulo, SP, Brazil.
Introduction: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss.
Objective: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear implants.
Methods: Our institutional protocol provides the vestibular diagnosis through six simple tests: Romberg and Fukuda tests, assessment for spontaneous nystagmus, Head Impulse Test, evaluation for Head Shaking Nystagmus and caloric test.
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