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Diagnostics (Basel, Switzerland) Mar 2024Cervical myelopathy is referred to in many ways in the English literature, for example, as (, () or (). In addition, more frequent occurrences are noted in older... (Review)
Review
Cervical myelopathy is referred to in many ways in the English literature, for example, as (, () or (). In addition, more frequent occurrences are noted in older adults and to a greater extent in men. The causes of the effects of cervical myelopathy may be the appearance of lesions on the spinal cord, ischemia due to compression of the vertebral artery and repeated micro-injuries during maximal movements-hyperflexion or hyperextension. It is well known that lesions on the spinal cord may occur in a quarter of the population, and this problem is clearly noted in people over 60 years old. The symptoms of SCM develop insidiously, and their severity and side (unilateral or bilateral) are associated with the location and extent of spinal cord compression. Neurological examination most often diagnoses problems in the upper limbs (most often paresis with developing hand muscle atrophy), pyramidal paralysis in one or both lower limbs and disorders in the urinary system. To make a diagnosis of CSM, it is necessary to perform MRI and neurophysiological tests (such as EMG or sensory and/or motor-evoked potentials). The use of appropriately selected scales and specific tests in diagnostics is also crucial. This narrative review article describes the latest knowledge on the diagnosis and clinimetrics of cervical spondylotic myelopathy in adults and provides future directions.
PubMed: 38473028
DOI: 10.3390/diagnostics14050556 -
Scientific Reports Nov 2023The causal roles of muscle weakness in cardiometabolic diseases and osteoporosis remain elusive. This two-sample Mendelian randomization (MR) study aims to explore the...
The causal roles of muscle weakness in cardiometabolic diseases and osteoporosis remain elusive. This two-sample Mendelian randomization (MR) study aims to explore the causal roles of muscle weakness in the risk of cardiometabolic diseases and osteoporosis. 15 single nucleotide polymorphisms (SNPs, P < 5 × 10) associated with muscle weakness were used as instrumental variables. Genetic predisposition to muscle weakness led to increased risk of coronary artery disease (inverse variance weighted [IVW] analysis, beta-estimate: 0.095, 95% confidence interval [CI]: 0.023 to 0.166, standard error [SE]:0.036, P-value = 0.009) and reduced risk of heart failure (weight median analysis, beta-estimate: - 0.137, 95% CI - 0.264 to - 0.009, SE:0.065, P-value = 0.036). In addition, muscle weakness may reduce the estimated bone mineral density (eBMD, weight median analysis, beta-estimate: - 0.059, 95% CI - 0.110 to - 0.008, SE:0.026, P-value = 0.023). We found no MR associations between muscle weakness and atrial fibrillation, type 2 diabetes or fracture. This study provides robust evidence that muscle weakness is causally associated with the incidence of coronary artery disease and heart failure, which may provide new insight to prevent and treat these two cardiometabolic diseases.
Topics: Humans; Diabetes Mellitus, Type 2; Coronary Artery Disease; Osteoporosis; Muscle Weakness; Paresis; Heart Failure; Polymorphism, Single Nucleotide; Genome-Wide Association Study; Mendelian Randomization Analysis
PubMed: 37968290
DOI: 10.1038/s41598-023-46837-y -
Journal of Clinical Medicine Dec 2023There is a wide variety of tools and measures for rehabilitation outcomes in post-stroke patients with impairments in the upper limb and hand, such as paralysis,... (Review)
Review
There is a wide variety of tools and measures for rehabilitation outcomes in post-stroke patients with impairments in the upper limb and hand, such as paralysis, paresis, flaccidity, and spasticity. However, there is a lack of general recommendations for selecting the most appropriate scales, tests, and instruments to objectively evaluate therapy outcomes. Reviews on upper limb and hand measurements reveal that clinicians' choices of tools and methods are highly varied. Some clinicians and medical teams continue to employ non-standard and unverified metrics in their research and measurements. This review article aims to identify the key parameters, assessed by outcome measures and instruments, that play a crucial role in upper limb and hand rehabilitation for post-stroke patients, specifically focusing on the recovery of hand function. The review seeks to assist researchers and medical teams in selecting appropriate outcome measures when evaluating post-stroke patients. We analyze the measured factors and skills found in these outcome measures and highlight useful tools that diversify assessments and enhance result objectivity through graphical representation. The paper also describes trends and new possibilities in hand outcome measures. Clinicians frequently use proven devices, such as EMG, goniometers, and hand dynamometers. Still, there is a growing trend towards incorporating technologies, such as pose and position estimation, using artificial intelligence, or custom hand grip measurement devices. Researchers are increasingly adopting scales previously successful in orthopedic and surgical patients, recognizing their potential for objectivizing outcomes in neurological patients with post-stroke hand complications. The review included only adults over the age of 18. Outcome measures were tested for usefulness in the rehabilitation of stroke patients.
PubMed: 38068549
DOI: 10.3390/jcm12237497 -
Langenbeck's Archives of Surgery Dec 2023Hemithyroidectomies are mainly performed for two indications, either therapeutically to relieve compression symptoms or diagnostically for suspicious nodule(s). In case... (Observational Study)
Observational Study
PURPOSE
Hemithyroidectomies are mainly performed for two indications, either therapeutically to relieve compression symptoms or diagnostically for suspicious nodule(s). In case of the latter, one could consider the approach to be rather extensive since the majority of patients have no symptoms and will have benign disease. The aim of this study is to investigate the complication rates of diagnostic hemithyroidectomy and to compare it with the complication rates of compressive symptoms hemithyroidectomy.
METHODS
Data from patients who had undergone hemithyroidectomy either for compression symptoms or for excluding malignancy were extracted from a well-established Scandinavian quality register (SQRTPA). The following complications were analyzed: bleedings, wound infections, and paresis of the recurrent laryngeal nerve (RLN). Risk factors for these complications were examined by univariable and multivariable logistic regression.
RESULTS
A total of 9677 patients were included, 3871 (40%) underwent surgery to exclude malignancy and 5806 (60%) due to compression symptoms. In the multivariable analysis, the totally excised thyroid weight was an independent risk factor for bleeding. Permanent (6-12 months after the operation) RLN paresis were less common in the excluding malignancy group (p = 0.03).
CONCLUSION
A range of factors interfere and contribute to bleeding, wound infections, and RLN paresis after hemithyroidectomy. In this observational study based on a Scandinavian quality register, the indication "excluding malignancy" for hemithyroidectomy is associated with less permanent RLN paresis than the indication "compression symptoms." Thus, patients undergoing diagnostic hemithyroidectomy can be reassured that this procedure is a safe surgical procedure and does not entail an unjustified risk.
Topics: Humans; Thyroidectomy; Thyroid Neoplasms; Paresis; Wound Infection; Retrospective Studies
PubMed: 38062331
DOI: 10.1007/s00423-023-03168-w -
Nature Genetics Jul 2023Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is...
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3. These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.
Topics: Animals; Mice; Facial Paralysis; GATA2 Transcription Factor; Motor Neurons; Neurogenesis; Neurons, Efferent
PubMed: 37386251
DOI: 10.1038/s41588-023-01424-9 -
Neurology. Genetics Dec 2023gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo variant (c.628G>A; p.Glu210Lys) has recently been...
OBJECTIVES
gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo variant (c.628G>A; p.Glu210Lys) has recently been associated with a childhood-onset neurodegenerative disorder characterized by motor and language regression, ataxia, dystonia, and acquired microcephaly. In this study, we report the clinical, metabolic, molecular genetics and neuroimaging findings and histologic, histochemical, and electron microscopy studies in muscle samples of 2 patients from unrelated families with a neurodevelopmental disorder.
METHODS
Data were retrospectively analyzed by medical charts revision.
RESULTS
Patient 1, a 16-year-old boy, presented a childhood-onset slowly progressive neurodegenerative disorder mainly affecting language skills, behavior, and motor coordination. Patient 2, a 22-year-old woman, presented with a severe and rapidly progressive disease with dystonic tetra paresis, acquired microcephaly, and severe cognitive deficit complicated by pseudobulbar syndrome characterized by involuntary and uncontrollable outbursts of laughing, dysphagia requiring tube feeding, and nocturnal hypoventilation treated with noninvasive ventilation. Both patients carried the recurrent previously described de novo variant and had signs of mitochondrial dysfunction at muscle biopsy. The metabolic profile of patient 2 also revealed a decrease in CSF biopterin.
DISCUSSION
These case reports add new insights to the disease spectrum instrumental to improving the diagnostic rate in neurodevelopmental disorders.
PubMed: 38235043
DOI: 10.1212/NXG.0000000000200098 -
Plastic and Reconstructive Surgery.... Jan 2024The global market for hyaluronic acid (HA)-based dermal fillers has experienced substantial growth, providing patients with an effective nonsurgical cosmetic option....
The global market for hyaluronic acid (HA)-based dermal fillers has experienced substantial growth, providing patients with an effective nonsurgical cosmetic option. According to the global market report, the HA dermal fillers market size is expected to grow to $8.5 billion in 2027 at an annual growth rate (CAGR) of 8.9%. However, despite their popularity, HA injections are not free of complications. Vascular occlusion, particularly involving the central retinal artery, represents a significant risk. This case report presents a 60-year-old woman who presented with binocular vertical diplopia after HA filler injection in the right tear trough area. Upon evaluation, the patient exhibited right hypertropia, suggesting right inferior rectus paresis due to vascular injury of the infraorbital artery. Prompt management with hyaluronidase and oral steroids resulted in the resolution of double vision. This case highlights the importance of recognizing potential complications during HA filler injections and emphasizes the need for early intervention to minimize adverse effects.
PubMed: 38250204
DOI: 10.1097/GOX.0000000000005494 -
Neurobiology of Disease Aug 2023Autoimmune-mediated encephalitis syndromes are increasingly being recognized as important clinical entities. They need to be thought of as differential diagnosis in any... (Review)
Review
Autoimmune-mediated encephalitis syndromes are increasingly being recognized as important clinical entities. They need to be thought of as differential diagnosis in any patient presenting with fast-onset psychosis or psychiatric problems, memory deficits or other cognitive problems, including aphasias, as well as seizures or motor automatisms, but also rigidity, paresis, ataxia or dystonic / parkinsonian symptoms. Diagnosis including imaging and CSF search for antibodies needs to be fast, as progression of these inflammatory processes is often causing scarring of brain tissue, with hypergliosis and atrophy. As these symptoms show, the autoantibodies present in these cases appear to act within the CNS. Several of such antibodies have by now been identified such as IgG directed against NMDA-receptors, AMPA receptors, GABA and GABA receptors, and voltage gated potassium channels and proteins of the potassium channel complex (i.e. LGI1 and CASPR2). These are neuropil / surface antigens where antibody interaction can well be envisaged to cause dysfunction of the target protein, including internalization. Others, such as antibodies directed against GAD65 (an intracellular enzyme responsible for GABA-synthesis from glutamate), are discussed to constitute epiphenomena, but not causal agents in disease progression. This review will focus on the current knowledge of antibody interaction mechanisms, especially discussing cellular excitability changes and synaptic interactions in hippocampal and other brain networks. One challenge in this context is to find viable hypotheses for the emergence of both, hyperexcitability and seizures, and presumably reduced synaptic plasticity and underlying cognitive dysfunction.
Topics: Humans; Nerve Tissue Proteins; Autoimmunity; Intracellular Signaling Peptides and Proteins; Autoantibodies; Seizures; gamma-Aminobutyric Acid
PubMed: 37414365
DOI: 10.1016/j.nbd.2023.106221 -
World Journal of Gastrointestinal... Jul 2023Recent advancements in endoscopy equipment have facilitated endoscopists' detection of neoplasms in the oral cavity and pharyngolaryngeal regions. In particular,... (Review)
Review
Recent advancements in endoscopy equipment have facilitated endoscopists' detection of neoplasms in the oral cavity and pharyngolaryngeal regions. In particular, image-enhanced endoscopy using narrow band imaging or blue laser imaging play an integral role in the endoscopic diagnosis of oral and pharyngolaryngeal cancers. Despite these advancements, limited studies have focused on benign lesions that can be observed during esophagogastroduodenoscopy in the oral and pharyngolaryngeal regions. Therefore, this mini-review aimed to provide essential information on such benign lesions, along with representative endoscopic images of dental caries, cleft palate, palatal torus, bifid uvula, compression by cervical osteophytes, tonsil hyperplasia, black hairy tongue, oral candidiasis, oral and pharyngolaryngeal ulcers, pharyngeal melanosis, oral tattoos associated with dental alloys, retention cysts, papilloma, radiation-induced changes, skin flaps, vocal cord paresis, and vocal fold leukoplakia. Whilst it is imperative to seek consultation from otolaryngologists or dentists in instances where the diagnosis cannot be definitively ascertained by endoscopists, the merits of attaining foundational expertise pertaining to oral and pharyngolaryngeal lesions are unequivocal. This article will be a valuable resource for endoscopists seeking to enhance their understanding of oral and pharyngolaryngeal lesions.
PubMed: 37547241
DOI: 10.4253/wjge.v15.i7.496