A rounded opacity silhouetting the left heart border and hilum

Pericardial incidentaloma: benign pericardial cyst

από Lin, A. N., Lin, S., Lin, K., Raju, F. στο BMJ Case Reports Last 6 Issues

Μετάφραση άρθρου

Description

A 73-year-old woman with hypertension and atrial fibrillation presented with head and neck injury after mechanical fall. During workup, chest X-ray anteroposterior view (figure 1) revealed a rounded opacity silhouetting the left heart border and hilum. Subsequent contrast-enhanced CT of the chest showed single, 6.4 cm, rounded, well-defined, thin-walled, non-enhanced, low attenuated (–20 and 20 Hounsfield Unit) and homogenous cyst-like structure at the left mediastinum connected to pericardial recesses and not attached to adjacent structures (figure 2A–C). Transthoracic echocardiogram ruled out left ventricular aneurysm, aortic aneurysm, solid tumour and outflow tracts obstruction. Although bronchogenic cyst, oesophageal duplication cyst, thymic tumour and mediastinal lymphoma were considered as possible differentials, radiological features such as CT appearance, homogenous attenuation, unrelated to the underlying structures favoured pericardial cyst. Since patient was asymptomatic, patient and family member were unwilling to undergo surgical removal and pathological confirmation. Follow-up with non-enhanced CT of...

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Transient hemiparaesthesias and dysarthria

Mitral Stenosis

από Oehler, A. C., Sullivan, P. D., Mansoor, A. M. στο BMJ Case Reports Last 6 Issues

Μετάφραση άρθρου

Description

A previously healthy 29-year-old Mexican woman presented to an emergency department with transient hemiparaesthesias and dysarthria. There was no evidence of stroke on cross-sectional imaging of the head, and she was discharged without a clear diagnosis. Two days later, she returned with acute abdominal pain. Abdominal imaging revealed complete occlusion of the right renal artery, prompting emergency embolectomy. Following the procedure, she developed acute haemoptysis, dyspnoea and hypoxaemia. Chest imaging demonstrated evidence of pulmonary venous hypertension. Cardiac auscultation revealed an opening snap followed by a diastolic murmur with presystolic accentuation. These sounds were better appreciated in combination with phonocardiography, a technique supplanted by echocardiography in the 1970s1 that visualised heart sounds (video 1). An echocardiogram confirmed the presence of mitral stenosis (MS), unifying the syndrome of embolic phenomena, haemoptysis and pulmonary hypertension. She underwent successful mitral valve replacement and has since returned to normal...

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Muscle Bioenergetic Considerations for Intrinsic Laryngeal Skeletal Muscle Physiology

Purpose

Intrinsic laryngeal skeletal muscle bioenergetics, the means by which muscles produce fuel for muscle metabolism, is an understudied aspect of laryngeal physiology with direct implications for voice habilitation and rehabilitation. The purpose of this review is to describe bioenergetic pathways identified in limb skeletal muscle and introduce bioenergetic physiology as a necessary parameter for theoretical models of laryngeal skeletal muscle function.

Method

A comprehensive review of the human intrinsic laryngeal skeletal muscle physiology literature was conducted. Findings regarding intrinsic laryngeal muscle fiber complement and muscle metabolism in human models are summarized and exercise physiology methodology is applied to identify probable bioenergetic pathways used for voice function.

Results

Intrinsic laryngeal skeletal muscle fibers described in human models support the fast, high-intensity physiological requirements of these muscles for biological functions of airway protection. Inclusion of muscle bioenergetic constructs in theoretical modeling of voice training, detraining, fatigue, and voice loading have been limited.

Conclusions

Muscle bioenergetics, a key component for muscle training, detraining, and fatigue models in exercise science, is a little-considered aspect of intrinsic laryngeal skeletal muscle physiology. Partnered with knowledge of occupation-specific voice requirements, application of bioenergetics may inform novel considerations for voice habilitation and rehabilitation.

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Muscle Bioenergetic Considerations for Intrinsic Laryngeal Skeletal Muscle Physiology

Purpose

Intrinsic laryngeal skeletal muscle bioenergetics, the means by which muscles produce fuel for muscle metabolism, is an understudied aspect of laryngeal physiology with direct implications for voice habilitation and rehabilitation. The purpose of this review is to describe bioenergetic pathways identified in limb skeletal muscle and introduce bioenergetic physiology as a necessary parameter for theoretical models of laryngeal skeletal muscle function.

Method

A comprehensive review of the human intrinsic laryngeal skeletal muscle physiology literature was conducted. Findings regarding intrinsic laryngeal muscle fiber complement and muscle metabolism in human models are summarized and exercise physiology methodology is applied to identify probable bioenergetic pathways used for voice function.

Results

Intrinsic laryngeal skeletal muscle fibers described in human models support the fast, high-intensity physiological requirements of these muscles for biological functions of airway protection. Inclusion of muscle bioenergetic constructs in theoretical modeling of voice training, detraining, fatigue, and voice loading have been limited.

Conclusions

Muscle bioenergetics, a key component for muscle training, detraining, and fatigue models in exercise science, is a little-considered aspect of intrinsic laryngeal skeletal muscle physiology. Partnered with knowledge of occupation-specific voice requirements, application of bioenergetics may inform novel considerations for voice habilitation and rehabilitation.

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Muscle Bioenergetic Considerations for Intrinsic Laryngeal Skeletal Muscle Physiology

Purpose

Intrinsic laryngeal skeletal muscle bioenergetics, the means by which muscles produce fuel for muscle metabolism, is an understudied aspect of laryngeal physiology with direct implications for voice habilitation and rehabilitation. The purpose of this review is to describe bioenergetic pathways identified in limb skeletal muscle and introduce bioenergetic physiology as a necessary parameter for theoretical models of laryngeal skeletal muscle function.

Method

A comprehensive review of the human intrinsic laryngeal skeletal muscle physiology literature was conducted. Findings regarding intrinsic laryngeal muscle fiber complement and muscle metabolism in human models are summarized and exercise physiology methodology is applied to identify probable bioenergetic pathways used for voice function.

Results

Intrinsic laryngeal skeletal muscle fibers described in human models support the fast, high-intensity physiological requirements of these muscles for biological functions of airway protection. Inclusion of muscle bioenergetic constructs in theoretical modeling of voice training, detraining, fatigue, and voice loading have been limited.

Conclusions

Muscle bioenergetics, a key component for muscle training, detraining, and fatigue models in exercise science, is a little-considered aspect of intrinsic laryngeal skeletal muscle physiology. Partnered with knowledge of occupation-specific voice requirements, application of bioenergetics may inform novel considerations for voice habilitation and rehabilitation.

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Congenital Deafness Alters Sensory Weighting for Postural Control.

Objectives: The aim of this study was to examine sensory reweighting for postural control in congenitally deaf individuals. Design: We studied 14 controls and 14 deaf age-matched individuals using a force platform and the modified clinical test of sensory interaction and balance protocol. Both groups performed the postural tasks without auditory cues (with hearing protectors for controls or without hearing devices for the deaf). Results: The results confirmed poorer postural stability in the deaf. More importantly, the data suggest that congenitally deaf individuals rely more on somatosensory information for postural control than controls. Conclusions: This increased somatosensory reliance may increase postural sway when it comes to more challenging postural conditions. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Congenital Deafness Alters Sensory Weighting for Postural Control.

Objectives: The aim of this study was to examine sensory reweighting for postural control in congenitally deaf individuals. Design: We studied 14 controls and 14 deaf age-matched individuals using a force platform and the modified clinical test of sensory interaction and balance protocol. Both groups performed the postural tasks without auditory cues (with hearing protectors for controls or without hearing devices for the deaf). Results: The results confirmed poorer postural stability in the deaf. More importantly, the data suggest that congenitally deaf individuals rely more on somatosensory information for postural control than controls. Conclusions: This increased somatosensory reliance may increase postural sway when it comes to more challenging postural conditions. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Congenital Deafness Alters Sensory Weighting for Postural Control.

Objectives: The aim of this study was to examine sensory reweighting for postural control in congenitally deaf individuals. Design: We studied 14 controls and 14 deaf age-matched individuals using a force platform and the modified clinical test of sensory interaction and balance protocol. Both groups performed the postural tasks without auditory cues (with hearing protectors for controls or without hearing devices for the deaf). Results: The results confirmed poorer postural stability in the deaf. More importantly, the data suggest that congenitally deaf individuals rely more on somatosensory information for postural control than controls. Conclusions: This increased somatosensory reliance may increase postural sway when it comes to more challenging postural conditions. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

Related Articles

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

Mutat Res. 2017 May 04;800-802:29-36

Authors: Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K

Abstract
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA. In particular, 4 novel alleles were detected while the remaining ones were already described to be associated to HHL in other ethnic groups. Molecular modelling has been used to further investigate the role of novel alleles identified in CDH23 and TMC1 genes demonstrating their crucial role in Ca2+ binding and therefore possible functional role in proteins. Present study showed that an accurate molecular diagnosis based on next generation sequencing technologies might largely improve molecular diagnostics outcome leading to benefits for both genetic counseling and definition of recurrence risk.

PMID: 28501645 [PubMed - as supplied by publisher]

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Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

Related Articles

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

Mutat Res. 2017 May 04;800-802:29-36

Authors: Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K

Abstract
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA. In particular, 4 novel alleles were detected while the remaining ones were already described to be associated to HHL in other ethnic groups. Molecular modelling has been used to further investigate the role of novel alleles identified in CDH23 and TMC1 genes demonstrating their crucial role in Ca2+ binding and therefore possible functional role in proteins. Present study showed that an accurate molecular diagnosis based on next generation sequencing technologies might largely improve molecular diagnostics outcome leading to benefits for both genetic counseling and definition of recurrence risk.

PMID: 28501645 [PubMed - as supplied by publisher]

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A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population

by Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu

Background

Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required.

Methods

We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)–associated genes in the Chinese population. The PCR-RDB assay consists of multiplex PCR amplifications of 10 fragments in the target sequence of the four above-mentioned genes in wild-type and mutant genomic DNA samples followed by hybridization to a test strip containing allele-specific oligonucleotide probes. We applied our method to a set of 225 neonates with deafness gene mutations and 30 normal neonates.

Results

The test was validated through direct sequencing in a blinded study with 100% concordance.

Conclusions

The results demonstrated that our reverse dot blot assay is a reliable and effective genetic screening method for identifying carriers and individuals with NSHL among the Chinese population.

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Investigation of the effect of cochlear implant electrode length on speech comprehension in quiet and noise compared with the results with users of electro-acoustic-stimulation, a retrospective analysis

by Andreas Büchner, Angelika Illg, Omid Majdani, Thomas Lenarz

Objectives

This investigation evaluated the effect of cochlear implant (CI) electrode length on speech comprehension in quiet and noise and compare the results with those of EAS users.

Methodes

91 adults with some degree of residual hearing were implanted with a FLEX²⁰, FLEX²⁴, or FLEX²⁸ electrode. Some subjects were postoperative electric-acoustic-stimulation (EAS) users; the other subjects were in the groups of electric stimulation-only (ES-only).Speech perception was tested in quiet and noise at 3 and 6 months of ES or EAS use. Speech comprehension results were analyzed and correlated to electrode length.

Results

While the FLEX²⁰ ES and FLEX²⁴ ES groups were still in their learning phase between the 3 to 6 months interval, the FLEX²⁸ ES group was already reaching a performance plateau at the three months appointment yielding remarkably high test scores. EAS subjects using FLEX²⁰ or FLEX²⁴ electrodes outscored ES-only subjects with the same short electrodes on all 3 tests at each interval, reaching significance with FLEX²⁰ ES and FLEX²⁴ ES subjects on all 3 tests at the 3-months interval and on 2 tests at the 6- months interval. Amongst ES-only subjects at the 3- months interval, FLEX²⁸ ES subjects significantly outscored FLEX²⁰ ES subjects on all 3 tests and the FLEX²⁴ ES subjects on 2 tests. At the-6 months interval, FLEX²⁸ ES subjects still exceeded the other ES-only subjects although the difference did not reach significance.

Conclusions

Among ES-only users, the FLEX²⁸ ES users had the best speech comprehension scores, at the 3- months appointment and tendentially at the 6 months appointment. EAS users showed significantly better speech comprehension results compared to ES-only users with the same short electrodes.

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