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The Journal of Maternal-fetal &... Dec 2023Nausea and vomiting affect up to 80% of all pregnancies, sometimes so severely that the condition of hyperemesis gravidarum (HG) is established. HG may in addition be a... (Review)
Review
UNLABELLED
Nausea and vomiting affect up to 80% of all pregnancies, sometimes so severely that the condition of hyperemesis gravidarum (HG) is established. HG may in addition be a predisposing factor for Wernicke encephalopathy (WE), a severe and life-threatening condition due to vitamin B1 (thiamin) deficiency. If untreated, WE may progress to Korsakoff's syndrome, an irreversible cognitive disorder. We reported a case that recently occurred at our clinic and performed a systematic review of the literature to investigate the clinical presentation, maternal and perinatal outcomes and treatment of WE in women with HG.
METHODS
We performed a systematic review of case series and case reports searching the Medline database on Pubmed from inception until December 2021. We used as search terms (Wernicke encephalopathy) OR (Wernicke-Korsakoff syndrome) AND (hyperemesis gravidarum) AND (pregnancy) AND (thiamin deficiency). Articles were considered eligible for inclusion in our review if they described at least one case of WE due to thiamin deficiency in relation to HG. An overall of 82 cases of WE due to HG in pregnancy from 66 manuscripts, including our own, were selected.
RESULTS
The maternal mean age was 26.38 ± 5.23 years, while mean gestational week at hospitalization was 14.57 ± 4.12 after a mean of 6.6 ± 3.14 weeks of vomiting duration. WE manifestation occurred at a mean gestational age of 16.54 ± 3.06 weeks. Regarding clinical presentation, ocular signs and symptoms were reported by 77/82 (93.9%) women, 61/82 (74.4%) presented with ataxia and 63/82 (76.8%) with confusion. Dysarthria affected 15/82 women (18,3%), while muscular weakness was present in 36/82 (43.9%) and impaired reflexes in 42/82 (51.2%). Memory impairment involved 25/82 (30.5%) of the study population. Almost all cases reported a thiamin administration treatment, however data regarding the clinical course of the neurological condition and the perinatal outcomes were often missing and showed a great heterogeneity when reported.
CONCLUSION
WE is a challenging diagnosis, as its clinical presentation is nonspecific. A high clinical suspicion and the awareness of its possible predisposing conditions such as HG may help clinicians to get a prompt diagnosis and starting treatment, which are vital to prevent possible life-impairing neurological sequelae.
Topics: Pregnancy; Humans; Female; Young Adult; Adult; Infant; Male; Wernicke Encephalopathy; Hyperemesis Gravidarum; Korsakoff Syndrome; Brain; Thiamine
PubMed: 37322816
DOI: 10.1080/14767058.2023.2223678 -
Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Cureus Sep 2023A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive... (Review)
Review
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN. Atypical PKAN is distinguished by a later onset (>10 years), noticeable speech abnormalities, psychological disorders, and slower disease development. Studies designed to support various PKAN therapeutic strategies have highlighted the intricacy of coenzyme A (CoA) metabolism and the limitations of our present understanding of disease causation. Therefore, improvements in our knowledge of the causes and therapy of PKAN may have ramifications for our comprehension of other, more prevalent diseases. They may also shed fresh light on the physiological significance of CoA, a cofactor essential for the operation of several cellular metabolic processes. The existence of low but considerable PANK2 expression, which can be elevated in some mutations, provides necessary information that can justify using a hefty dose of pantothenate as a treatment. A more effective therapeutic approach can be achieved by comparing the effects of various currently available pharmacological alternatives on the pathophysiological alterations in fibroblasts and neuronal cells obtained from PKAN patients. The objective of this study is to educate and inform people about PKAN disease conditions such as treatment, diagnosis, and complications. These cell models will also help evaluate the effectiveness of future medicinal innovations. This review discusses the neurodegeneration generated by pantothenate kinase in cellular models, iron/lipofuscin in pantothenate kinase-related neurodegeneration, and treatment and diagnosis of PKAN.
PubMed: 37900501
DOI: 10.7759/cureus.46135 -
Neurology. Clinical Practice Dec 2023The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis... (Review)
Review
PURPOSE OF REVIEW
The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis and treatment.
RECENT FINDINGS
Sixty patients were identified in the literature for analysis. Movement disorders observed were postural tremor (23.3%, n = 14), resting tremor (8.3%, n = 5), intention tremor (10%, n = 6), ataxia involving the trunk (48.3%, n = 29) or limbs (25%, n = 15) and dysarthria (21.7%, n = 13), athetosis (8.3%, n = 5), myoclonus (6.7%, n = 4), and chorea (1.8%, n = 1). Symptoms may be accompanied by downbeat nystagmus, tetany, drowsiness, vertigo, and proximal muscle weakness. Residual deficits were noted in 16 (26.67%) patients. Serum magnesium was 1.3 mg/dL or lower in 53 patients (88.3%). Imaging findings include bilateral cerebellar (20%, n = 11) and vermis hyperintensities (9.09%, n = 5) and normal imaging. Proton pump inhibitors are the commonest etiology.
SUMMARY
The movement disorders linked with hypomagnesemia can be associated with varied neurologic symptoms. A high degree of suspicion will enable early diagnosis to prevent residual deficits.
PubMed: 37795503
DOI: 10.1212/CPJ.0000000000200202 -
Journal of Clinical Neuroscience :... Nov 2023Hemangioblastomas (HBs) are highly vascular tumors linked to substantial morbidity and mortality. Recently, interventional neuroradiology has evolved rapidly, spurring... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Hemangioblastomas (HBs) are highly vascular tumors linked to substantial morbidity and mortality. Recently, interventional neuroradiology has evolved rapidly, spurring interest in preoperative embolization as a possible HB treatment.
PURPOSE
This study evaluates the effectiveness and safety of preoperative embolization in managing HB.
METHODS
Adhering to PRISMA guidelines, this meta-analysis considered randomized and nonrandomized studies meeting specific criteria, encompassing intracranial HB and preoperative embolization. Primary outcomes were preoperative embolization efficacy and safety. Complications were classified as major (cerebellar ischemia, ischemic strokes, intratumoral hemorrhage, subarachnoid hemorrhage) and minor (transient nystagmus, slight facial nerve palsy, nausea, transient dysarthria, hemiparesis, hemisensory impairment, thrombotic complications, extravasation).
RESULTS
Thirteen studies involving 166 patients with preoperative embolization before HB resection were included. Two studies using the Glasgow Outcome Scale (GOS) showed 5 patients with good recovery, 6 with moderate disability, and 3 with severe disability. Major complications occurred in 1% (95% CI: 0% to 3%), and minor complications occurred in 1% (95% CI: 0% to 4%). Intraoperative blood loss during resection was estimated at 464.29 ml (95% CI: 350.63 ml to 614.80 ml).
CONCLUSION
Preoperative embolization holds promise in reducing intraoperative bleeding risk in neurosurgical intracranial HB treatment, primarily due to its low complication rates. Nonetheless, additional research and larger-scale studies are essential to establish its long-term efficacy and safety. These findings highlight preoperative embolization as a valuable tool for HB management, potentially enhancing future patient outcomes.
Topics: Humans; Hemangioblastoma; Embolization, Therapeutic; Neurosurgical Procedures; Preoperative Care; Blood Loss, Surgical; Treatment Outcome; Retrospective Studies
PubMed: 37788533
DOI: 10.1016/j.jocn.2023.09.021 -
Journal of Neurosurgery. Pediatrics Dec 2023Diffuse intrinsic pontine gliomas (DIPGs) are aggressive and malignant tumors of the brainstem. Stereotactic biopsy can obtain molecular and genetic information for...
OBJECTIVE
Diffuse intrinsic pontine gliomas (DIPGs) are aggressive and malignant tumors of the brainstem. Stereotactic biopsy can obtain molecular and genetic information for diagnostic and potentially therapeutic purposes. However, there is no consensus on the safety of biopsy or effect on survival. The authors aimed to characterize neurological risk associated with and the effect of stereotactic biopsy on survival among patients with DIPGs.
METHODS
A systematic review was performed in accordance with PRISMA guidelines to identify all studies examining pediatric patients with DIPG who underwent stereotactic biopsy. The search strategy was deployed in PubMed, Embase, and Scopus. The quality of studies was assessed using the Grading of Recommendations, Assessment, Development and Evaluation system, and risk of bias was evaluated with the Cochrane Risk of Bias in Nonrandomized Studies-of Interventions tool. Bibliographic, demographic, clinical, and outcome data were extracted from studies meeting inclusion criteria.
RESULTS
Of 2634 resultant articles, 13 were included, representing 192 patients undergoing biopsy. The weighted mean age at diagnosis was 7.5 years (range 0.5-17 years). There was an overall neurosurgical complication rate of 13.02% (25/192). The most common neurosurgical complication was cranial nerve palsy (4.2%, 8/192), of which cranial nerve VII was the most common (37.5%, 3/8). The second most common complication was perioperative hemorrhage (3.6%, 7/192), followed by hemiparesis (2.1%, 4/192), speech disorders (1.6%, 3/192) such as dysarthria and dysphasia, and movement disorders (1.0%, 2/192). Hydrocephalus was less commonly reported (0.5%, 1/192), and there were no complications relating to wound infection/dehiscence (0%, 0/192) or CSF leak (0%, 0/192). No mortality was specifically attributed to biopsy. Diagnostic yield of biopsy revealed a weighted mean of 97.4% (range 91%-100%). Of the studies reporting survival data, 37.6% (32/85) of patients died within the study follow-up period (range 2 weeks-48 months). The mean overall survival in patients undergoing biopsy was 9.73 months (SD 0.68, median 10 months, range 6-13 months).
CONCLUSIONS
Children with DIPGs undergoing biopsy have mild to moderate rates of neurosurgical complications and no excessive morbidity. With reasonably acceptable surgical risk and high diagnostic yield, stereotactic biopsy of DIPGs can allow for characterization of patient-specific molecular and genetic features that may influence prognosis and the development of future therapeutic strategies.
Topics: Humans; Child; Infant; Child, Preschool; Adolescent; Glioma; Diffuse Intrinsic Pontine Glioma; Brain Stem Neoplasms; Biopsy
PubMed: 37724839
DOI: 10.3171/2023.7.PEDS22462 -
Journal of Voice : Official Journal of... Jul 2023Hyperkinetic dysarthria is characterized by atypical involuntary movements within the speech mechanism that may affect the respiratory, laryngeal, pharyngeal-oral, or... (Review)
Review
INTRODUCTION
Hyperkinetic dysarthria is characterized by atypical involuntary movements within the speech mechanism that may affect the respiratory, laryngeal, pharyngeal-oral, or velopharyngeal-nasal subsystems and may alter speech production. Although articulatory impairments are commonly considered in hyperkinetic dysarthria, speakers with hyperkinetic dysarthria may also present with changes in voice quality, pitch, and loudness. In approximately 70% of speakers with hyperkinetic dysarthria, these voice alterations are associated with tremor or dystonia. The purpose of this systematic review was to investigate the association between behavioral therapy for tremor or dystonia affecting voice in speakers with hyperkinetic dysarthria and improvement in the functional, perceptual, acoustical, aerodynamic, or endoscopic characteristics of voice.
METHOD
MEDLINE (PubMed), Embase, PsycINFO, and ClinicalTrials.gov online databases were searched in August 2017, December 2018, and April 2020 for relevant studies. The searches provided 4,921 unique records, and six additional unique records were added from other sources. Twelve studies met the criteria for inclusion in the systematic review. Participants who received concurrent medical treatment were included in this review to ensure that the search was inclusive of all relevant studies and informative for typical clinical scenarios.
RESULTS
The most commonly administered treatment ingredient was relaxation training, which was investigated in three of the four studies on tremor and three of the eight studies on dystonia. Of these six studies, only one used an experimental design and administered relaxation training as the only behavioral approach. This single-case experiment reported a significant reduction in participant ratings of tremor severity and interference with activities of daily living, although the speaking subscale reportedly did not improve and oral medications were administered concurrently. In two group studies that tested potential behavioral therapy targets, production of a low pitch improved acoustical measures for participants with essential tremor and improved auditory-perceptual judgments for participants with laryngeal dystonia. Behavioral therapy improved functional, acoustical, and aerodynamic outcomes in participants with laryngeal dystonia who were also receiving botulinum toxin injections in a randomized cross-over study and a non-randomized controlled study. Because one study employed easy onset and breathing exercises, while the other employed loud voice exercises, the mechanism of action for improvement in voice associated with behavioral therapy requires further investigation.
CONCLUSION
This systematic review describes the current evidence for treatment of tremor and dystonia affecting voice in speakers with hyperkinetic dysarthria and highlights the need for future research on behavioral therapy for these disorders.
Topics: Humans; Activities of Daily Living; Behavior Therapy; Dysarthria; Dystonia; Tremor
PubMed: 34112549
DOI: 10.1016/j.jvoice.2021.03.026 -
Neurosurgery Apr 2024Schwannomas originating from the lower cranial nerves (LCNS) are rare and pose a significant surgical challenge. Resection is the mainstay treatment; however, risk of...
BACKGROUND AND OBJECTIVES
Schwannomas originating from the lower cranial nerves (LCNS) are rare and pose a significant surgical challenge. Resection is the mainstay treatment; however, risk of treatment morbidity is considerable, and the available literature regarding differential treatment outcomes in this vulnerable population is sparse.
METHODS
A single-institution cohort study and systematic literature review of LCNS were performed.
RESULTS
Fifty-eight patients were included: 34 underwent surgical resection and 24 underwent stereotactic radiosurgery (SRS). The median age at diagnosis was 48 years (range 17-74). Presenting symptoms were dysphagia (63%), dysarthria/hypophonia (47%), imbalance (33%), and hearing loss/tinnitus (30%). Tumor size was associated with surgical resection, as compared with initial SRS (4.1 cm vs 1.5 cm, P = .0001). Gross total resection was obtained in 52%, with tumor remnants predominantly localized to the jugular foramen (62%). Post-treatment worsening of symptoms occurred in 68% of surgical and 29% of SRS patients ( P = .003). Postoperative symptoms were mostly commonly hypophonia/hoarseness (63%) and dysphagia (59%). Seven patients (29%) had new neurological issues after SRS treatment, but symptoms were overall milder. The median follow-up was 60 months (range 12-252); 98% demonstrated meaningful clinical improvement. Eighteen surgical patients (53%) underwent adjuvant radiation at a median of 5 months after resection (range 2-32). At follow-up, tumor control was 97% in the surgical cohort and 96% among SRS patients.
CONCLUSION
Although LCNS resection is potentially morbid, most postoperative deficits are transient, and patients achieve excellent tumor control-particularly when paired with adjuvant SRS. For minimally symptomatic patients undergoing surgical intervention, we advise maximally safe resection with intracapsular dissection to preserve nerve integrity where possible. For residual or as a primary treatment modality, SRS is associated with low morbidity and high rates of long-term tumor control.
Topics: Humans; Adolescent; Young Adult; Adult; Middle Aged; Aged; Cohort Studies; Deglutition Disorders; Neurilemmoma; Treatment Outcome; Cranial Nerves; Radiosurgery; Retrospective Studies; Follow-Up Studies
PubMed: 37874134
DOI: 10.1227/neu.0000000000002735 -
JMIR Rehabilitation and Assistive... Oct 2023Speech intelligibility and speech comprehension for dysarthric speech has attracted much attention recently. Dysarthria is characterized by irregularities in the speed,... (Review)
Review
BACKGROUND
Speech intelligibility and speech comprehension for dysarthric speech has attracted much attention recently. Dysarthria is characterized by irregularities in the speed, strength, pitch, breath control, range, steadiness, and accuracy of muscle movements required for articulatory aspects of speech production.
OBJECTIVE
This study examined the contributions made by other studies involved in dysarthric speech comprehension. We focused on the modes of meaning extraction used in generalizing speaker-listener underpinnings in light of semantic ontology extraction as a desired technique, applied method types, speech representations used, and databases sourced from.
METHODS
This study involved a systematic literature review using 7 electronic databases: Cochrane Database of Systematic Reviews, Web of Science Core Collection, Scopus, PubMed, ACM, IEEE Xplore, and Google Scholar. The main eligibility criterion was the extraction of meaning from dysarthric speech using natural language processing or understanding approaches to improve on dysarthric speech comprehension. In total, out of 834 search results, 30 studies that matched the eligibility requirements were acquired following screening by 2 independent reviewers, with a lack of consensus being resolved through joint discussion or consultation with a third party. In order to evaluate the studies' methodological quality, the risk of bias assessment was based on the Cochrane risk-of-bias tool version 2 (RoB2) with 23 of the studies (77%) registering low risk of bias and 7 studies (33%) raising some concern over the risk of bias. The overall quality assessment of the study was done using TRIPOD (Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis).
RESULTS
Following a review of 30 primary studies, this study revealed that the reviewed studies focused on natural language understanding or clinical approaches, with an increase in proposed solutions from 2020 onwards. Most studies relied on speaker-dependent speech features, while others used speech patterns, semantic knowledge, or hybrid approaches. The prevalent use of vector representation aligned with natural language understanding models, while Mel-frequency cepstral coefficient representation and no representation approaches were applied in neural networks. Hybrid representation studies aimed to reconstruct dysarthric speech or improve comprehension. Comprehensive databases, like TORGO and UA-Speech, were commonly used in combination with other curated databases, while primary data was preferred for specific or unique research objectives.
CONCLUSIONS
We found significant gaps in dysarthric speech comprehension characterized by the lack of inclusion of important listener or speech-independent features in the speech representations, mode of extraction, and data sources used. Further research is therefore proposed regarding the formulation of models that accommodate listener and speech-independent features through semantic ontologies that will be useful in the inclusion of key features of listener and speech-independent features for meaning extraction of dysarthric speech.
PubMed: 37889538
DOI: 10.2196/44489 -
Laryngoscope Investigative... Aug 2023This study aimed to systematically review the associations between motor clinical phenotypes in Parkinson's disease (PD) and laryngeal disease symptoms. Laryngeal... (Review)
Review
OBJECTIVE
This study aimed to systematically review the associations between motor clinical phenotypes in Parkinson's disease (PD) and laryngeal disease symptoms. Laryngeal dysfunctions such as dysphonia and dysphagia are ubiquitous in people with Parkinson's disease (PwPD). Similar to other disease symptoms, they manifest variably across PwPD. Some of the variability within PD has been explained by clinical phenotypes. However, it is unclear how laryngeal symptoms of PD express themselves across these phenotypes.
METHODS
Five databases were searched (MEDLINE, CINAHL, Web of Science, Embase, Scopus) in May 2022. After the removal of duplicates, all retrieved records were screened. Cohort, case-control, and cross-sectional studies in English discussing laryngeal symptoms and clinical PD phenotypes were included. Data were extracted, tabulated, and assessed using Moola et al.'s (2021) appraisal tool for systematic reviews of risk and etiology.
RESULTS
The search retrieved 2370 records, representing 540 PwPD. After the removal of duplicates and screening, eight articles were included for review. The most common phenotype categories were tremor-dominant and postural-instability gait disordered (PIGD). Five studies addressed vocal characteristics, while four considered swallowing. Differences and lack of rigor in methodology across studies complicated conclusions, but a tendency for tremor-dominant phenotypes to present with less severe laryngeal symptoms was found.
CONCLUSION
Some minor differences in laryngeal function were found between tremor-dominant and PIGD phenotypes in PD. However, there is a need for more standardized and high-quality studies when comparing motor phenotypes for laryngeal function.
PubMed: 37621279
DOI: 10.1002/lio2.1112