RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol. 2016 Sep 13;:

Authors: Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS, Care4Rare Canada Consortium, McFarland R, Vanderver A

Abstract
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.
METHODS: We reviewed a large-scale biorepository of patients with unsolved leukodystrophies and identified two individuals with required for meiotic nuclear division 1 (RMND1) mutations and similar magnetic resonance imaging (MRI) features, including temporal lobe cysts. Ten additional subjects with confirmed RMND1 mutations were identified as part of a separate disease specific cohort. Brain MRIs from all 12 individuals were reviewed for common neuroradiological features.
RESULTS: MRI features in RMND1 mutations included temporal lobe swelling, with rarefaction and cystic evolution, enlarged tips of the temporal lobes, and multifocal subcortical white matter changes with confluent periatrial T2 signal hyperintensity. A combination of these features was present in ten of the 12 individuals reviewed.
CONCLUSIONS: Despite the small number of reported individuals with RMND1 mutations, a clinically recognizable phenotype of leukoencephalopathy with temporal lobe swelling, rarefaction, and cystic changes has emerged in a subset of individuals. Careful clinical phenotyping, including for lactic acidosis, deafness, and severe muscle involvement seen in RMND1 mutation positive individuals, and MRI pattern recognition will be important in differentiating these patients from children with congenital infections like cytomegalovirus.

PMID: 27843092 [PubMed - as supplied by publisher]

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Lung Herniation Associated with Continuous Positive Airway Pressure in a Child

http://sfaki.blogspot.gr/2016/11/apical-lung-herniation-associated-with.html

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
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6948891480

alsfakia@gmail.com

Comparison of Speech-in-Noise and Localization Benefits in Unilateral Hearing Loss Subjects Using Contralateral Routing of Signal Hearing Aids or Bone Anchored Implants.

Objective: To compare the benefit of wireless contralateral routing of signal (CROS) technology to bone-anchored implant (BAI) technology in monaural listeners. Study Design: Prospective, single-subject. Setting: Tertiary academic referral center. Patients: Adult English speaking subjects using either a CROS hearing aid or BAI as treatment for unilateral severe-profound hearing loss. Interventions: Aided performance utilizing the subjects BAI or CROS hearing device. Main Outcome Measures: Outcome measures included speech-in-noise perception using the QuickSIN(TM) (Etymotic Research, Elkgrove Village, IL, 2001) speech-in-noise test and localization ability using narrow and broadband stimuli. Performance was measured in the unaided and aided condition and compared with normal hearing controls. Subjective outcomes measures included the Speech Spatial and Qualities hearing scale and the Glasgow Hearing Aid Benefit Profile. Results: A significant improvement in speech-in-noise performance for monaural listeners (p

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Activation of IGF1 Signaling in the Cochlea Induces the Transcription of its Mediators During the Protection of Cochlear Hair Cells Against Aminoglycoside.

Hypothesis: Transcription of the Erk and Akt genes and phosphorylation of their products are promoted by insulin-like growth factor 1 (IGF1) during hair cell protection. Background: IGF1 protects mammalian hair cells in animal models from various types of damage, including aminoglycoside. Moreover, clinical trials have revealed that IGF1 was effective for idiopathic sudden sensorineural hearing loss. In this process, activation of the downstream of IGF1 signaling, including the phosphorylation of extracellular signal-regulated kinase (ERK) and AKT proteins, is involved. However, the regulation of IGF1 signaling mediators at the transcriptional level has not been studied. Methods: We used a neomycin damage model on neonatal mouse cochlear explant culture. Explants established from neonatal mice were treated with either neomycin alone or neomycin and IGF1. The expression levels of IGF1 signaling mediator genes, Akt1, Mapk3, and Mapk1, in the explants were compared using quantitative reverse transcriptase-polymerase chain reaction at several time points. Inhibitors of IGF1 signaling were added to confirm that this observation was dependent on IGF1 signaling. Results: The expression levels of all genes tested were significantly upregulated in neomycin+IGF1 treatment samples (p

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