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Journal of Clinical Medicine Apr 2024(1) Direct anterior approach (DAA) has recently acquired popularity through improvements such as the anterior minimally invasive surgical technique (AMIS). This...
(1) Direct anterior approach (DAA) has recently acquired popularity through improvements such as the anterior minimally invasive surgical technique (AMIS). This retrospective study examines the first 1000 consecutive THAs performed utilizing the AMIS approach in a high-volume center between 2012 and 2017. (2) 1000 consecutive THAs performed at a single institution utilizing the AMIS approach were retrospectively analyzed with a minimum five-year follow-up. Full evaluation of demographic information, clinical parameters, intraoperative complications, and radiological examinations are reported. (3) Overall complication rate was 9.4% (94/1000), including 8 dislocations, 57 femoral-cutaneous nerve injuries, 12 intraoperative femoral fractures, 9 infections and 8 leg length discrepancy. Implant survival rates were 98.5% at 1 year, 97.5% at 3 years, 97% at 5 years, and 95.3% at 7 years. Causes of failure included periprosthetic fractures (0.8%), implant dislocations (0.6%), septic loosening (0.5%), aseptic mobilizations (0.2%), and symptomatic limb length discrepancies (0.2%). (4) Controversies persist around the direct anterior approach (DAA) for THA, primarily regarding the increased complications rate during the learning curve. However, this study advocates for widespread adoption of the DAA approach. The results demonstrate acceptable complication rates and remarkable functional outcomes, affirming its viability in the broader orthopedic patient population.
PubMed: 38731146
DOI: 10.3390/jcm13092617 -
Neurological Sciences : Official... May 2024To explore efficacy of the "Rey-Osterrieth complex figure (ROCF) tracing task" as a new test to detect unilateral spatial neglect (USN).
PURPOSE
To explore efficacy of the "Rey-Osterrieth complex figure (ROCF) tracing task" as a new test to detect unilateral spatial neglect (USN).
METHODS
Subjects were 40 healthy control (HC) and 20 right brain-damaged patients with (USN + , n = 10) or without USN (USN - , n = 10). After the ROCF copying task, the tracing task was performed under conditions that did not leave any tracing lines on the sample figure. Evaluation used the conventional 36-point scoring system, laterality index (LI) as the ratio of the left and right structure scores, and the number of overlaps for each of the left and right structures scored.
RESULTS
In the tracing task, USN + showed a lower LI than HC. Furthermore, left-sided neglect was sometimes more evident than in the copying task. Regarding the total overlapping score, USN + showed a greater score than HC. The right-sided overlapping scores in USN + and USN - were also greater than that in HC. In the right brain-damaged subjects, clinically meaningful correlations were not found between evaluations in the ROCF tracing task and in conventional USN screening tests. Receiver-operating-characteristic analysis to test the power of detection showed moderate performance for the tracing LI (AUC = 0.76, 95% CI = 0.54-0.97), which was greater than that of other tests. Further, the total overlapping score in the tracing task showed sensitivity 0.9 (highest among the tests performed), specificity 0.5, and AUC 0.68 (95% CI = 0.43-0.92).
CONCLUSION
The ROCF tracing task might be a convenient method to detect USN and to reveal the extent of spatial working memory impairment.
PubMed: 38717579
DOI: 10.1007/s10072-024-07540-6 -
F1000Research 2023Alien hand syndrome (AHS) is a rare neurological phenomenon first described by Van Vleuten over a century ago. The most widely recognized variants in literature are...
Alien hand syndrome (AHS) is a rare neurological phenomenon first described by Van Vleuten over a century ago. The most widely recognized variants in literature are frontal, callosal, and posterior AHS. AHS due to the corpus callosum lesion can occur alone or as part of callosal disconnection syndrome (CDS). This report presents a unique CDS case manifesting clinical features from all three AHS variants, resulting from an extensive corpus callosum infarct. Our patient exhibited various clinical features from the three AHS variants, which include grasping, groping, and difficulty releasing objects from the hand (anterior); intermanual conflict (callosal); arm levitation, mild hemiparesis, and hemisensory loss (posterior). Additionally, the extensive disruption of the corpus callosal fibers produced neurological manifestations of CDS, such as cognitive impairment, ideomotor and constructional apraxia, behavioral disorder, and transcortical motor aphasia. We employed a range of rehabilitation interventions, such as mirror box therapy, limb restraint strategy, verbal cue training, cognitive behavioral therapy, bimanual hand training, speech and language therapy, and pharmacological treatment with clonazepam. The patient showed almost complete resolution of CDS and AHS features by nine months post-stroke Our case report highlights distinctive clinical variations of AHS and the challenging correlation between clinical manifestations and neuroanatomical substrates. Future studies are necessary to explore the intricate neural connections and the precise function of the corpus callosum. This can be achieved by combining comprehensive neuropsychological testing with diffusion tensor tractography studies. It is also essential to develop a validated tool to standardize AHS assessment. Finally, the scarcity of evidence in rehabilitation interventions necessitates further studies to address the wide knowledge gap in AHS and CDS management.
PubMed: 38716229
DOI: 10.12688/f1000research.133838.1 -
Neuropathology : Official Journal of... May 2024A 68-year-old woman presented with difficulty finding words and writing characters. Neurological examination led to clinical diagnosis at onset of the logopenic variant...
An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently.
A 68-year-old woman presented with difficulty finding words and writing characters. Neurological examination led to clinical diagnosis at onset of the logopenic variant of primary progressive aphasia accompanied with ideomotor apraxia, visuospatial agnosia on the right, and Gerstmann syndrome. Bradykinesia and rigidity on the right with shuffling gait developed after one year. Treatment with L-dopa had no effect. The patient was diagnosed with corticobasal syndrome (CBS). Brain magnetic resonance imaging revealed diffuse cortical atrophy dominantly on the left, especially in the temporal, parietal, and occipital lobes. Positron emission tomography did not reveal any significant accumulation of amyloid β or tau protein. She died five years later. Neuropathological examination revealed diffuse cortical atrophy with severe neuronal loss and fibrous gliosis in the cortex. Neuronal cytoplasmic inclusions, short dystrophic neurites, and, most notably, neuronal intranuclear inclusions, all immunoreactive for phosphorylated TDP-43, were observed. Western blotting revealed a full length and fragments of phosphorylated TDP-43 at 45 and 23 kDa, respectively, confirming the pathological diagnosis of type A FTLD-TDP. Whole exome sequencing revealed a pathogenic mutation in GRN (c.87dupC). FTLD-TDP should be included in the differential diagnosis of CBS.
PubMed: 38715398
DOI: 10.1111/neup.12980 -
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.MedRxiv : the Preprint Server For... Apr 2024Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the...
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52,143 individuals, reconstructing clinical histories using a large-scale data mining approach of the Electronic Medical Records (EMR) from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of twenty-six broad speech and language diagnoses. We used Natural Language Processing to assess to which degree clinical diagnosis in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be easily retrieved through ICD-10 diagnosis codes, while stuttering as a speech phenotype was only coded in 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and to a lesser degree with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our EMR analysis were (=21), (=20), and (=18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of and aphasia (=8.57 × 10, CI=18.62-130.39) and with speech and language development delay due to hearing loss (=1.24 × 10, CI=17.46-Inf). Finally, in a sub-cohort of 726 individuals with whole exome sequencing data, we identified an enrichment of rare variants in synaptic protein and neuronal receptor pathways and associations of with expressive aphasia and with abnormality of speech or vocalization. In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype-phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.
PubMed: 38712155
DOI: 10.1101/2024.04.23.24306192 -
European Child & Adolescent Psychiatry May 2024
PubMed: 38700702
DOI: 10.1007/s00787-024-02452-4 -
Clinical Linguistics & Phonetics May 2024Speakers with motor speech disorders (MSD) present challenges in speech production, one of them being the difficulty to adapt their speech to different modes. However,...
Speakers with motor speech disorders (MSD) present challenges in speech production, one of them being the difficulty to adapt their speech to different modes. However, it is unclear whether different types of MSD are similarly affected when it comes to adapting their speech to various communication contexts. This study investigates the encoding of speech modes in individuals with AoS following focal brain damage and in individuals with hypokinetic dysarthria (HD) secondary to Parkinson's disease. Participants with mild-to-moderate MSD and their age-matched controls performed a delayed production task of pseudo-words in two speech modes: normal and whispered speech. While overall accuracy did not differ significantly across speech modes, participants with AoS exhibited longer response latencies for whispered speech, reflecting difficulties in the initiation of utterances requiring an unvoiced production. In contrast, participants with HD showed faster response latencies for whispered speech, indicating that this speech mode is easier to encode/control for this population. Acoustic durations followed these same trends, with participants with AoS showing greater lengthening for whispered speech as compared to controls and to participants with HD, while participants with HD exhibited milder lengthening. Contrary to the predictions of speech production models, suggesting that speech mode changes might be particularly difficult in dysarthria, the present results suggest that speech mode adaptation rather seems particularly costly for participants with AoS.
PubMed: 38691845
DOI: 10.1080/02699206.2024.2345353 -
Neurogastroenterology and Motility Jul 2024Disruption of external anal sphincter muscle (EAS) is an important factor in the multifactorial etiology of fecal incontinence (FI).
BACKGROUND
Disruption of external anal sphincter muscle (EAS) is an important factor in the multifactorial etiology of fecal incontinence (FI).
OBJECTIVES
We categorize FI patients into four groups based on the location of lesion in neuromuscular circuitry of EAS to determine if there are differences with regards to fecal incontinence symptoms severity (FISI) score, age, BMI, obstetrical history, and anal sphincter muscle damage.
METHODS
Female patients (151) without any neurological symptoms, who had undergone high-resolution manometry, anal sphincter EMG, and 3D ultrasound imaging of the anal sphincter were assessed. Patients were categorized into four groups: Group 1 (normal)-normal cough EMG (>10 μV), normal squeeze EMG (>10 μV), and normal anal squeeze pressure (>124 mmHg); Group 2 (cortical apraxia, i.e., poor cortical activation)-normal cough EMG, low squeeze EMG, and low anal squeeze pressure; Group 3 (muscle damage)-normal cough EMG, normal squeeze EMG, and low anal squeeze pressure; and Group 4 (pudendal nerve damage)-low cough EMG, low squeeze EMG, and low anal squeeze pressure.
RESULTS
The four patient groups were not different with regards to the patient's age, BMI, parity, and FISI scores. 3D ultrasound images of the anal sphincter complex revealed significant damage to the internal anal sphincter, external anal sphincter, and puborectalis muscles in all four groups.
CONCLUSION
The FI patients are a heterogeneous group; majority of these patients have significant damage to the muscles of the anal sphincter complex. Whether biofeedback therapy response is different among different patient groups requires study.
Topics: Humans; Anal Canal; Female; Electromyography; Fecal Incontinence; Middle Aged; Manometry; Adult; Aged; Pressure; Ultrasonography
PubMed: 38689439
DOI: 10.1111/nmo.14810 -
Medicine Apr 2024Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering...
RATIONALE
Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing.
PATIENT CONCERNS AND DIAGNOSIS
A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS.
LESSONS
This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Topics: Humans; Male; Adult; Kidney Diseases, Cystic; Cerebellum; Eye Abnormalities; Peroneal Neuropathies; Abnormalities, Multiple; Retina; Magnetic Resonance Imaging
PubMed: 38669389
DOI: 10.1097/MD.0000000000037987 -
Journal of Speech, Language, and... Jun 2024Pitch variations (tone productions) have been reported as a measure to differentiate Cantonese-speaking children with and without childhood apraxia of speech (CAS). This...
PURPOSE
Pitch variations (tone productions) have been reported as a measure to differentiate Cantonese-speaking children with and without childhood apraxia of speech (CAS). This study aims to examine fundamental frequency (0) changes within syllables and the effects of syllable structure, lexical status, and syllable positions on 0 in Cantonese-speaking preschool children with and without CAS.
METHOD
Six children with CAS, six children with non-CAS speech sound disorder plus language disorder (S&LD), 22 children with speech sound disorder only (SSD), and 63 children with typical speech-language development (TD) performed the tone sequencing task (TST). Growth curve analysis was employed to analyze and compare the 0 values within syllables with three Cantonese tones (high level, high rising, and low falling). The analysis considered the effects of syllable structure (vowel and consonant-vowel), lexical status (word and nonword), and syllable position (initial, medial, and final) on 0, as well as comparisons within and between groups.
RESULTS
Within each group, the effects of syllable structure and position on 0 values were found with different patterns. Between-group comparisons showed that the CAS group had reduced 0 contrasts. The CAS group could be differentiated from the control groups based on interactions of 0 with syllable structure and position, but not lexical status. The dissimilarity of 0 values detected between the CAS and SSD/TD groups was more prominent than that observed between the CAS and S&LD groups.
CONCLUSIONS
This study demonstrated that Cantonese-speaking children with CAS had difficulty in varying 0 within syllables as compared to those without CAS, suggesting pitch variation difficulty and language-specific impairment profiles in CAS. Future investigations of objective measures for identifying Cantonese speakers with CAS and cross-linguistic investigations using growth curve analysis and the TST are suggested.
Topics: Humans; Child, Preschool; Apraxias; Male; Female; Phonetics; Speech Acoustics; Speech Sound Disorder; Speech Production Measurement; Language; Speech
PubMed: 38662942
DOI: 10.1044/2024_JSLHR-23-00383