Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract. The aim of the study was to assess voice alterations using noninvasive acoustic and electroglottographic voice analysis. Electroglottographic signal and acoustic analyses revealed considerable changes in the voices of patients with Morquio A syndrome when compared to the voices of healthy controls. Affected patients tended toward tense voice, incomplete glottal closure, increased incidence of vocal fold nodules, dysphonia, and hoarse voice. Morquio A syndrome is characterized by connective tissue disease, which adversely affects voice quality. The use of objective voice analysis makes it possible to quantitatively monitor changes in the vocal apparatus over the course of disease progression, and also allows for assessment of the effects of the enzyme replacement therapy.
X-linked adrenoleukodystrophy (ALD) is an inherited disorder of peroxisomal metabolism characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in the brain, adrenal cortex and plasma. It is caused by mutations in the ABCD1 gene, which encodes an adenosine triphosphate-binding cassette peroxisomal transporter, involved in the import of VLCFA into the peroxisome for degradation (Moser et al., 2004). There is an evident wide range of phenotypic variability: childhood, adolescent and adult cerebral forms of ALD, adrenomyeloneuropathy (AMN), Addison's disease only and presymptomatic or asymptotic phenotype (Moser, 1997).
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Brain injury due to severe anoxic, hemorrhagic or traumatic events often lead to chronic disorders of consciousness (DOCs), which have recently received increasing attention because of growing medical and ethical concerns relating to patient management. A considerable proportion of survivors of severe brain damage enter an unresponsive wakefulness syndrome/vegetative state (UWS/VS) or minimally conscious state (MCS) (Laureys et al., 2010) and a number of studies have assessed more or less extensive series of DOC patients using imaging procedures or neurophysiological evaluations designed to provide information supporting the clinical assessment of different degrees of DOCs or to identify prognostic markers (see reviews by Bender et al., 2015; Kondziella et al., 2015).
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Intracranial electroencephalographic (iEEG) recordings, either from depth electrodes (stereoelectroencephalography, SEEG) (Kahane and Dubeau 2014) or from subdural grids and strips (electrocorticography, ECoG) (Fernández and Loddenkemper 2013), are used to localize the epileptogenic zone in some patients with drug-resistant focal epilepsy where other non-invasive measures are limited. These techniques permit to collect prominent data for assessing brain dynamics in pathological and physiological conditions.
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Globus pallidus internus (GPi) deep brain stimulation (DBS) has become established as an effective treatment for disabling, medically refractory generalized, segmental and focal dystonia (Coubes et al., 2004; Vidailhet et al., 2005; Kupsch et al., 2006; Volkmann et al., 2014). The greatest improvement in dystonia after GPi DBS occurs in isolated idiopathic or genetic (primary) dystonia, which respond better than acquired (secondary) dystonia (Eltahawy et al., 2004; Andrews et al., 2010; Vidailhet et al., 2009; Vidailhet et al., 2013).
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In English speaking countries, developmental dyslexia (DD) is primarily defined as a reading disorder which is characterized by deficits in word reading accuracy, that are frequently accompanied by spelling problems. The association between reading and spelling deficits is in line with theories of literacy development that generally assume a close, bidirectional relationship between reading and spelling development (e.g. Frith, 1985), with correlation scores of .77-.86 between the two domains (for a review see Ehri, 1997).
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Amyotrophic Lateral Sclerosis (ALS) is an adult-onset neurodegenerative condition characterized by the loss of motor neurons at cortical, brainstem and spinal levels (Kiernan et al., 2011). ALS is widely considered as a pure motor degeneration; sensory impairment is not a recognised feature of ALS or regarded as secondary to motor impairment (Fincham and Van Allen, 1964; Feller et al., 1966; Schulte-Mattler et al., 1999). However, in addition to the 10 % patients describing frank paraesthesia and neuropathic pain, sensory impairments have been reported in up to 60 % patients, including abnormal vibration, cutaneous and heat thresholds.
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Adipose tissue has traditionally been viewed as an energy sink that can store the excess calorie in the form of triglycerides and then release non-esterified fatty acids (NEFA) and glycerol into the blood circulation during lipolysis of triglyceride.
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Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA. Two stillborn sibling fetuses with arthrogryposis, pterygia, and amyoplasia had compound heterozygous pathogenic variants in NEB. A neonate with a histopathologic diagnosis of nemaline myopathy had a heterozygous de novo pathogenic variant in ACTA1. Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. These cases demonstrate the utility of whole genome sequencing as the principal diagnostic method of lethal forms of skeletal muscle disorders that present with arthrogryposis and muscle amyoplasia/hypoplasia. Molecular diagnosis provides an opportunity for studying patterns of inheritance and for family counseling concerning future pregnancies.
In the original publication of the article, the first sentence was published incorrectly under the section "Patients and preoperative assessment". The correct sentence should read as, "The Yamaguchi University Graduate School of Medicine Ethics Committee for Human Study approved the study protocol (18th August 2004: H16-71)".
Cav3.1 (α1G) T-type Ca2+ channel (TTCC) is expressed in mouse sinoatrial node cells (SANCs) and atrioventricular nodal (AVN) cells and contributes to heart rate genesis and AV conduction. However, its role in heart rate (HR) regulation and AV conduction acceleration by the β-adrenergic system (SAS) is unclear, which is the topic of this study.
L- (ICa-L) and T-type (ICa-T) Ca2+ currents were recorded in SANCs from Cav3.1 transgenic (TG) and knockout (KO), and control mice. ICa-T was absent in KO SANCs but enhanced in TG SANCs. In anaesthetized animals, different doses of ISO were infused through jugular vein and the heart rate was recorded. The EC50 of HR response to isoproterenol was lower in TG mice but higher in KO mice, and the maximal percentage of HR increase by isoproterenol was greater in TG mice but less in KO mice. In Langendorff-perfused hearts, ISO increased HR and shortened PR intervals to a greater extent in TG but to a less extent in KO hearts. KO SANCs had significantly slower spontaneous beating rates than control SANCs before and after isoproterenol; TG SANCs had similar basal beating rates as control SANCs probably due to decreased ICa-L but greater response to isoproterenol than control SANCs. ICa-T in SANCs was significantly increased by isoproterenol.
ICa-T upregulation by β-adrenergic stimulation contributes to HR and conduction regulation by the SAS. TTCC can be a target for slowing heart rates.
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