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1.
Science ; 384(6696): 608-609, 2024 May 10.
Article in English | MEDLINE | ID: mdl-38723076
2.
Science ; 383(6685): 810-816, 2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38386723

ABSTRACT

Long neglected, Lassa fever is surging in West Africa. Researchers want to know why.


Subject(s)
Lassa Fever , Neglected Diseases , Humans , Africa, Western/epidemiology , Lassa Fever/epidemiology , Neglected Diseases/epidemiology
3.
Muscle Nerve ; 68(6): 878-881, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37811697

ABSTRACT

INTRODUCTION/AIMS: Long latency reflexes (LLRs) are late responses in nerve conduction studies seen after peripheral nerve stimulation during submaximal muscle contraction. They follow a short latency reflex, also known as the H reflex, and are thought to involve transcortical pathways, providing a measure of proximal nerve and central conduction. For this reason, they have been evaluated in several central nervous system diseases, but reference values are not widely published and are mostly based on old studies with very small numbers of participants. Therefore, in this work we aim to provide comprehensive reference values for LLR testing. METHODS: LLRs were tested in a cohort of 100 healthy participants, testing the median nerve bilaterally. RESULTS: Mean latencies for short latency reflex (SLR), LLR1, LLR2, and LLR3 were 27.00, 38.50, 47.60, and 67.34 milliseconds, respectively. The allowable side-to-side difference was approximately 3 to 4 milliseconds. No significant sex-related differences were seen. Height correlated moderately with the SLR latency, but only weakly with LLR1, LLR2, and LLR3. DISCUSSION: This work provides normal LLR values for comparison with future studies in disease. The technique used may allow for improved evaluation of central nervous system or proximal peripheral nerve disorders.


Subject(s)
Median Nerve , Reflex , Humans , Adult , Median Nerve/physiology , Reaction Time/physiology , Muscle Contraction/physiology , Reference Values , H-Reflex , Electric Stimulation
4.
Curr Opin Neurol ; 36(5): 382-387, 2023 10 01.
Article in English | MEDLINE | ID: mdl-37639448

ABSTRACT

PURPOSE OF REVIEW: An increasing number of peripheral neuro(no)pathies are identified as involving other components of the neurological system, particularly those that further impair balance. Here we aim to outline an evidence-based approach to the diagnosis of patients who present with a somatosensory disorder which also involves at least one other area of neurological impairment such as the vestibular, auditory, or cerebellar systems. RECENT FINDINGS: Detailed objective investigation of patients who present with sensory impairment, particularly where the degree of imbalance is greater than would be expected, aids the accurate diagnosis of genetic, autoimmune, metabolic, and toxic neurological disease. SUMMARY: Diagnosis and management of complex somatosensory disorders benefit from investigation which extends beyond the presenting sensory impairment.


Subject(s)
Neurology , Peripheral Nervous System Diseases , Vestibule, Labyrinth , Humans , Ataxia/diagnosis , Ataxia/therapy , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/therapy , Cerebellum
6.
Muscle Nerve ; 67(6): 469-473, 2023 06.
Article in English | MEDLINE | ID: mdl-36919940

ABSTRACT

INTRODUCTION/AIMS: Lower limb sensory nerve action potentials are an important component of nerve conduction studies. Most testing of the sural and superficial fibular nerves involves antidromic techniques above the ankle, which result in a falsely unobtainable response in 2%-6% of healthy people. Cadaver, surgical, and more recent ultrasound series suggest this may relate to the site of fascia penetration of the nerve, and it is hypothesized that a modified technique may be more likely to produce reliable responses and reduce false-negative errors. METHODS: This article evaluates a variety of recording distances for both nerves in 100 healthy controls, including varying recording electrode positions and techniques, to provide the optimal electrodiagnostic information in healthy control subjects. RESULTS: Shorter stimulation distances produce higher-amplitude responses but become confounded by increasing stimulation artifact at very short distances, with the best balance found at around 10 cm. In both sural and superficial fibular nerves, amplitude increases by approximately 10%/cm compared with the standard 14 cm distance. The Daube superficial fibular technique produced a higher amplitude than the Izzo Intermediate technique (by 22.46%, p < .001). The calculated upper limit of normal for side-to-side variation in amplitude was around 50% in the sural nerve but over 70% in the superficial fibular nerve. DISCUSSION: It is proposed that the 10 cm recording distance for both nerves is optimal, with minimal false-negatives and a higher amplitude elicited than with existing techniques.


Subject(s)
Neural Conduction , Sural Nerve , Humans , Action Potentials/physiology , Neural Conduction/physiology , Sural Nerve/diagnostic imaging , Sural Nerve/physiology , Evoked Potentials , Ankle , Peroneal Nerve/diagnostic imaging , Peroneal Nerve/physiology
7.
Science ; 379(6629): 222-223, 2023 01 20.
Article in English | MEDLINE | ID: mdl-36656946

ABSTRACT

Ban on female NGO staff hampers critical aid work and jeopardizes polio eradication campaign.


Subject(s)
Disease Eradication , Poliomyelitis , Women's Rights , Female , Humans , Afghanistan , Poliomyelitis/epidemiology , Poliomyelitis/prevention & control , Child
8.
J Clin Neurophysiol ; 40(1): 86-90, 2023 Jan 01.
Article in English | MEDLINE | ID: mdl-34038931

ABSTRACT

PURPOSE: Peripheral neuropathy has been reported commonly in several spinocerebellar ataxia (SCA) types. To date, there is a lack of robust evidence for neuropathy or neuronopathy in SCA type 6 (SCA6). Here, we aim to evaluate the presence of neuropathy or neuronopathy in a cohort of SCA6 patients. METHODS: Twenty-four individuals with genetically confirmed SCA6 underwent detailed neurophysiological assessment. This included nerve conduction studies, and in some, cutaneous silent periods, blink reflexes, tilt table tests, quantitative sudomotor axon reflex tests, and somatosensory (median and tibial) evoked potentials. RESULTS: Mean age was 56.1 years (range, 22-94 years) at the time of testing. Four patients were presymptomatic of SCA6 at recruitment. The mean disease duration of symptomatic patients was 11.9 years (range, 1-40 years). Most patients (79.2%, 19/24) had no neurophysiological evidence of a peripheral neuropathy. One with impaired glucose tolerance had mild, large, and small fiber sensorimotor polyneuropathy. One elderly patient had length-dependent axonal sensorimotor polyneuropathy. Two had minor sensory abnormalities (one had type II diabetes and previous chemotherapy). One other had minor small fiber abnormalities. Ten patients (41.7%) had median neuropathies at the wrist. All somatosensory evoked potential (15/15), and most autonomic function tests (13/14) were normal. CONCLUSIONS: A large proportion of subjects (79.2%) in our cohort had no evidence of large or small fiber neuropathy. This study does not support the presence of neuropathy or neuronopathy as a common finding in SCA6 and confirms the importance of considering comorbidities as the cause of neurophysiological abnormalities.


Subject(s)
Diabetes Mellitus, Type 2 , Peripheral Nervous System Diseases , Polyneuropathies , Spinocerebellar Ataxias , Humans , Aged , Middle Aged , Spinocerebellar Ataxias/diagnosis , Evoked Potentials, Somatosensory , Neural Conduction/physiology
9.
Am J Hum Genet ; 110(1): 105-119, 2023 01 05.
Article in English | MEDLINE | ID: mdl-36493768

ABSTRACT

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)>300 and a further nine individuals with (GAA)>250. PCR and long-read sequence analysis revealed these were pure (GAA) repeats. In comparison, no control subjects had (GAA)>300 and only 2/311 control individuals (0.6%) had a pure (GAA)>250. In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)>335 and a further six had (GAA)>250, whereas 10/190 (5.3%) control subjects had (GAA)>250 but none were (GAA)>335. The combined data suggest (GAA)>335 are disease causing and fully penetrant (p = 6.0 × 10-8, OR = 72 [95% CI = 4.3-1,227]), while (GAA)>250 is likely pathogenic with reduced penetrance. Affected individuals had an adult-onset, slowly progressive cerebellar ataxia with variable features including vestibular impairment, hyper-reflexia, and autonomic dysfunction. A negative correlation between age at onset and repeat length was observed (R2 = 0.44, p = 0.00045, slope = -0.12) and identification of a shared haplotype in a minority of individuals suggests that the expansion can be inherited or generated de novo during meiotic division. This study demonstrates the power of genome sequencing and advanced bioinformatic tools to identify novel repeat expansions via model-free, genome-wide analysis and identifies SCA50/ATX-FGF14 as a frequent cause of adult-onset ataxia.


Subject(s)
Cerebellar Ataxia , Fibroblast Growth Factors , Friedreich Ataxia , Trinucleotide Repeat Expansion , Adult , Humans , Ataxia/genetics , Australia , Cerebellar Ataxia/genetics , Friedreich Ataxia/genetics , Trinucleotide Repeat Expansion/genetics
10.
Neurol Genet ; 8(5): e200021, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36187726

ABSTRACT

Increasingly, cerebellar syndromes are recognized as affecting multiple systems. Extracerebellar features include peripheral neuropathies affecting proprioception; cranial neuropathies such as auditory and vestibular; and neuronopathies, for example, dorsal root and vestibular. The presence of such features, which in and of themselves may cause ataxia, likely contribute to key disabilities such as gait instability and falls. Based on the evolving available literature and experience, we outline a clinical approach to the diagnosis of adult-onset ataxia where a combination of cerebellar and peripheral or cranial nerve pathology exists. Objective diagnostic modalities including electrophysiology, oculomotor, and vestibular function testing are invaluable in accurately defining an individual's phenotype. Advances in MRI techniques have led to an increased recognition of disease-specific patterns of cerebellar pathology, including those conditions where neuronopathies may be involved. Depending on availability, a stepwise approach to genetic testing is suggested. This is guided by factors such as pattern of inheritance and age at disease onset, and genetic testing may range from specific genetic panels through to whole-exome and whole-genome sequencing. Management is best performed with the involvement of a multidisciplinary team, aiming at minimization of complications such as falls and aspiration pneumonia and maximizing functional status.

11.
Science ; 377(6611): 1139-1143, 2022 09 09.
Article in English | MEDLINE | ID: mdl-36074826

ABSTRACT

The battle against malaria in Africa has stalled. Can research in Mozambique explain why-and how to get it back on track?


Subject(s)
Anopheles , Fever , Malaria , Mosquito Control , Animals , Fever/drug therapy , Fever/parasitology , Humans , Malaria/epidemiology , Malaria/prevention & control , Mozambique/epidemiology
12.
Science ; 377(6612): 1247-1248, 2022 09 16.
Article in English | MEDLINE | ID: mdl-36108020

ABSTRACT

As New York state declares an emergency, experts are far more worried about a resurgence in low-income countries.


Subject(s)
Disease Eradication , Disease Outbreaks , Global Health , Poliomyelitis , Humans , New York/epidemiology , Poliomyelitis/epidemiology , Poliomyelitis/prevention & control
13.
Natl Sci Rev ; 9(4): nwab184, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35401990

ABSTRACT

Human bodily movements are primarily controlled by the contractions of skeletal muscles. Unlike joint or skeletal movements that are generally performed in the large displacement range, the contractions of the skeletal muscles that underpin these movements are subtle in intensity yet high in frequency. This subtlety of movement makes it a formidable challenge to develop wearable and durable soft materials to electrically monitor such motions with high fidelity for the purpose of, for example, muscle/neuromuscular disease diagnosis. Here we report that an intrinsically fragile ultralow-density graphene-based cellular monolith sandwiched between silicone rubbers can exhibit a highly effective stress and strain transfer mechanism at its interface with the rubber, with a remarkable improvement in stretchability (>100%). In particular, this hybrid also exhibits a highly sensitive, broadband-frequency electrical response (up to 180 Hz) for a wide range of strains. By correlating the mechanical signal of muscle movements obtained from this hybrid material with electromyography, we demonstrate that the strain sensor based on this hybrid material may provide a new, soft and wearable mechanomyography approach for real-time monitoring of complex neuromuscular-skeletal interactions in a broad range of healthcare and human-machine interface applications. This work also provides a new architecture-enabled functional soft material platform for wearable electronics.

16.
J Clin Neurophysiol ; 39(3): 222-227, 2022 Mar 01.
Article in English | MEDLINE | ID: mdl-32756267

ABSTRACT

PURPOSE: A-waves are late responses that have been reported in healthy individuals and patients with neurologic conditions. The mechanism(s) responsible for their generation and their clinical significance are not fully understood. The aim was to better characterize A-waves. METHODS: A retrospective study was conducted in a high-volume Neurophysiology Department in a tertiary hospital in Melbourne, Australia. Consecutive neurophysiological tests including F-wave studies performed between July 2017 and September 2018 were reviewed to identify A-waves. Patients' characteristics and neurophysiological diagnoses were recorded. RESULTS: A total of 679 patients were included in the analysis and a total of 2,730 nerves were studied. A-waves were most commonly found in tibial nerves, followed by peroneal, median, and ulnar nerves. A-waves were seen in 39.4% of individuals with otherwise normal nerve conduction studies and 39.1% of individuals with entrapment neuropathy. They were most seen in demyelinating neuropathy (85.7%), followed by mixed neuropathy (73.3%), anterior horn cell disease (66.7%), axonal neuropathy (61.2%), and radiculopathy (53.1%). Most patients with demyelinating neuropathy had multiple A-waves (61.9%), but these were also seen in 15.2% of individuals with otherwise normal nerve conduction studies and in 40% of those with other neurologic conditions. A-waves were more often seen in individuals older than 60 years. CONCLUSIONS: A-waves are commonly seen in symptomatic individuals with otherwise normal nerve conduction studies and individuals with various neurologic conditions but are more commonly found in nerves with otherwise abnormal electrophysiological testing. A-waves are most seen in tibial nerves. Multiple A-waves were more commonly seen in demyelinating neuropathy than other conditions.


Subject(s)
Neural Conduction , Peripheral Nervous System Diseases , Humans , Neural Conduction/physiology , Retrospective Studies , Tibial Nerve , Ulnar Nerve
17.
Science ; 374(6566): 382, 2021 Oct 22.
Article in English | MEDLINE | ID: mdl-34672725
18.
Science ; 374(6564): 140-141, 2021 Oct 08.
Article in English | MEDLINE | ID: mdl-34618592
19.
Confl Health ; 15(1): 68, 2021 Sep 16.
Article in English | MEDLINE | ID: mdl-34530880

ABSTRACT

The Central African Republic (CAR) is one of the world's poorest and most fragile countries. Maybe there is no nation on the planet where the official health statistics are so poor. Evidence presented in this Conflict and Health themed collection to document humanitarian needs in CAR, suggests that UN statistics dramatically under-estimate the birth and death rates in conflict settings. To be current and valid, health indicator data in violent settings require more frequent measurement, more triangulation and granular exploration, and creative approaches based on few assumptions. In a world increasingly dependent on model driven data-data often inaccurate in conflict settings-we hope that this collection will allow those service providers and researchers operating in CAR to share their work and help us better learn how to learn. We particularly invite research from professionals working in CAR that documents humanitarian needs and presents indicators of population health where official estimates might not articulate the true extent of the health crisis.

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