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Asian Journal of Surgery May 2024
PubMed: 38749834
DOI: 10.1016/j.asjsur.2024.05.034 -
Nigerian Journal of Clinical Practice May 2024Tuberculosis of the spine, a common manifestation of extra-pulmonary tuberculosis is characterized by vertebral destruction, paradiscal involvement, abscess collection...
BACKGROUND
Tuberculosis of the spine, a common manifestation of extra-pulmonary tuberculosis is characterized by vertebral destruction, paradiscal involvement, abscess collection and varying degrees of neurologic affectation. The primary disease caused by mycobacterium tuberculosis complex infects the lungs, lymph nodes of the mediastinum and gastrointestinal tract/ viscera with spinal involvement being secondary and caused by haematogenous spread. Tuberculous paraplegia arises as a complication of spinal involvement.
AIM
To determine the outcome of operative intervention in tuberculous paraplegia. Methodology: This was a retrospective study involving 10 patients with tuberculous spinal involvement with varying degrees of neurological deficit as defined by both Tuli and ASIA grading. The VAS score, ESR, ASIA grade (both pre-op and post op), Tuli's grade (pre-op and post op) were used to analyze the therapeutic effects of the surgery.
RESULTS
The mean pre-operative VAS score was 5.9 ±1.8, which significantly decreased to 2.2 ±1.3 six weeks post operatively. The mean pre-operative ESR and CRP was 78.9 ± 11.3mm/hr and 83 ± 13.5 respectively; which both showed a statistically significant decrease post-operatively, p<0.05. All cases achieved an increase of more than one ASIA grade post-operatively.
CONCLUSION
Early surgical intervention is beneficial in patients with tuberculous spinal disease with neurologic involvement.
Topics: Humans; Retrospective Studies; Male; Tuberculosis, Spinal; Female; Adult; Paraplegia; Treatment Outcome; Middle Aged; Young Adult; Antitubercular Agents
PubMed: 38842704
DOI: 10.4103/njcp.njcp_390_23 -
Anales de Pediatria Jun 2024
PubMed: 38853057
DOI: 10.1016/j.anpede.2024.06.004 -
Neurological Sciences : Official... Oct 2023Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of... (Review)
Review
Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of Parkinson's disease, the most common cause of parkinsonism, and atypical parkinsonian disorders. However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a vast and heterogeneous motor and non-motor phenotypic features. Hereditary dementias, adult-onset ataxias and spastic paraplegias represent only few of this vast group of neurogenetic diseases. This review will provide an overview of parkinsonism's clinical features within adult-onset neurogenetic diseases which a neurologist could face with. Understanding parkinsonism and its characteristics in the context of the aforementioned neurological conditions may provide insights into pathophysiological mechanisms and have important clinical implications, including diagnostic and therapeutic aspects.
Topics: Adult; Humans; Parkinsonian Disorders; Paraplegia; Parkinson Disease; Ataxia; Dementia
PubMed: 37648940
DOI: 10.1007/s10072-023-07044-9 -
European Journal of Neurology Aug 2023Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders. While peripheral nerve involvement is frequent in spastic paraplegia 7 (SPG7), the evidence of...
BACKGROUND AND OBJECTIVES
Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders. While peripheral nerve involvement is frequent in spastic paraplegia 7 (SPG7), the evidence of peripheral nerve involvement in SPG4 is more controversial. We aimed to characterize lower extremity peripheral nerve involvement in SPG4 and SPG7 by quantitative magnetic resonance neurography (MRN).
METHODS
Twenty-six HSP patients carrying either the SPG4 or SPG7 mutation and 26 age-/sex-matched healthy controls prospectively underwent high-resolution MRN with large coverage of the sciatic and tibial nerve. Dual-echo turbo-spin-echo sequences with spectral fat-saturation were utilized for T2-relaxometry and morphometric quantification, while two gradient-echo sequences with and without an off-resonance saturation rapid frequency pulse were applied for magnetization transfer contrast (MTC) imaging. HSP patients additionally underwent detailed neurologic and electroneurographic assessments.
RESULTS
All microstructural (proton spin density [ρ], T2-relaxation time, magnetization transfer ratio) and morphometric (cross-sectional area) quantitative MRN markers were decreased in SPG4 and SPG7 indicating chronic axonopathy. ρ was superior in differentiating subgroups and identifying subclinical nerve damage in SPG4 and SPG7 without neurophysiologic signs of polyneuropathy. MRN markers correlated well with clinical scores and electroneurographic results.
CONCLUSIONS
MRN characterizes peripheral nerve involvement in SPG4 and SPG7 as a neuropathy with predominant axonal loss. Evidence of peripheral nerve involvement in SPG4 and SPG7, even without electroneurographically manifest polyneuropathy, and the good correlation of MRN markers with clinical measures of disease progression, challenge the traditional view of the existence of HSPs with isolated pyramidal signs and suggest MRN markers as potential progression biomarkers in HSP.
Topics: Humans; Spastic Paraplegia, Hereditary; Peripheral Nerves; Peripheral Nervous System Diseases; Polyneuropathies; Magnetic Resonance Spectroscopy; Magnetic Resonance Imaging
PubMed: 37154411
DOI: 10.1111/ene.15841 -
Annals of Cardiothoracic Surgery Sep 2023Minimally invasive staged segmental artery coil embolization (MISACE) is an emerging technology for priming of the paraspinous collateral network prior to open or...
Minimally invasive staged segmental artery coil embolization (MISACE) is an emerging technology for priming of the paraspinous collateral network prior to open or endovascular thoracoabdominal aortic aneurysm (TAAA) repair. Its safety and efficacy have been previously proven in various experimental settings and confirmed in numerous multicentric pilot studies for open and endovascular repair. MISACE is safe and has the potential to decisively reduce the risk of postoperative paraplegia, the most devastating complication of open and endovascular TAAA repair, still affecting up to 20% of patients. Up to now, MISACE has been clinically implemented with excellent results, and is currently being investigated in the international, multicenter, randomized controlled trial PAPAartis, funded by the German Research foundation, and the European Union. MISACE can be performed under local anesthesia, enabling continuous monitoring of neurological function, and in case of clinical signs of imminent ischemia, preemptive interruption of the procedure. A thorough evaluation of preoperative computed tomography (CT) imaging for identification of open and accessible segmental arteries (SAs) is critical. Segmental artery occlusion can be achieved with either micro coils, or vascular plugs. A maximum number of seven SAs is currently recommended to be occluded in the same session, and a minimum interval of 5 days should be awaited between either two MISACE sessions or between MISACE and the final repair. Adjuvant side-effects of MISACE are the reduction in segmental back-bleeding during open repair leading to harmful steal phenomenon and the reduction of the incidence of type II endoleaks in endovascular repair. Current contraindications for MISACE are emergency cases, hostile anatomy, and a shaggy aorta. Other neuroprotective adjuncts such as cerebrospinal fluid (CSF) drainage, permissive hypertension, motor-evoked potentials (MEP)/somato-sensory evoked potentials (SSEP) and monitoring of paraspinous muscle oxygenation by near-infrared spectroscopy should also be applied independent of prior MISACE procedure.
PubMed: 37817850
DOI: 10.21037/acs-2023-scp-21 -
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in Neurology 2023Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes...
INTRODUCTION
Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes underlying genetic neuropathy (GN) and spastic ataxias in Europeans. In this study, we used next-generation sequencing to screen 61 probands with GN, hereditary spastic paraplegia (HSP), and spastic ataxias for a genetic diagnosis.
METHODS
After identifying four GN probands with duplication and one spastic ataxia proband with SCA1, the remaining probands underwent whole exome ( = 26) or genome sequencing ( = 30). The curation of coding/splice region variants using gene panels was guided by allele frequencies from internal African-ancestry control genomes ( = 537) and the Clinical Genome Resource's Sequence Variant Interpretation guidelines.
RESULTS
Of 32 GN probands, 50% had African-genetic ancestry, and 44% were solved: ( = 4); ( = 3); one each of , and . Of 29 HSP probands (six with predominant ataxia), 66% had African-genetic ancestry, and 48% were solved: ( = 3); ( = 2); and one each of , and . Structural variants in , and were excluded by computational prediction and manual visualisation.
DISCUSSION
In this preliminary cohort screening panel of disease genes using WES/WGS data, we solved ~50% of cases, which is similar to diagnostic yields reported for global cohorts. However, the mutational profile among South Africans with GN and HSP differs substantially from that in the Global North.
PubMed: 37712079
DOI: 10.3389/fneur.2023.1239725 -
Journal of Lipid Research Nov 2023Intracellular lipolysis-the enzymatic breakdown of lipid droplet-associated triacylglycerol (TAG)-depends on the cooperative action of several hydrolytic enzymes and...
Intracellular lipolysis-the enzymatic breakdown of lipid droplet-associated triacylglycerol (TAG)-depends on the cooperative action of several hydrolytic enzymes and regulatory proteins, together designated as lipolysome. Adipose triglyceride lipase (ATGL) acts as a major cellular TAG hydrolase and core effector of the lipolysome in many peripheral tissues. Neurons initiate lipolysis independently of ATGL via DDHD domain-containing 2 (DDHD2), a multifunctional lipid hydrolase whose dysfunction causes neuronal TAG deposition and hereditary spastic paraplegia. Whether and how DDHD2 cooperates with other lipolytic enzymes is currently unknown. In this study, we further investigated the enzymatic properties and functions of DDHD2 in neuroblastoma cells and primary neurons. We found that DDHD2 hydrolyzes multiple acylglycerols in vitro and substantially contributes to neutral lipid hydrolase activities of neuroblastoma cells and brain tissue. Substrate promiscuity of DDHD2 allowed its engagement at different steps of the lipolytic cascade: In neuroblastoma cells, DDHD2 functioned exclusively downstream of ATGL in the hydrolysis of sn-1,3-diacylglycerol (DAG) isomers but was dispensable for TAG hydrolysis and lipid droplet homeostasis. In primary cortical neurons, DDHD2 exhibited lipolytic control over both, DAG and TAG, and complemented ATGL-dependent TAG hydrolysis. We conclude that neuronal cells use noncanonical configurations of the lipolysome and engage DDHD2 as dual TAG/DAG hydrolase in cooperation with ATGL.
Topics: Humans; Lipase; Lipolysis; Neurons; Paraplegia; Phospholipases; Triglycerides
PubMed: 37832604
DOI: 10.1016/j.jlr.2023.100457 -
Korean Journal of Neurotrauma Dec 2023This review describes the incidence rates and trends of traumatic spinal cord injuries (TSCI) and non-traumatic spinal cord injuries (NTSCI) in South Korea. The... (Review)
Review
This review describes the incidence rates and trends of traumatic spinal cord injuries (TSCI) and non-traumatic spinal cord injuries (NTSCI) in South Korea. The incidence of NTSCI has increased more rapidly than that of TSCI in recent years. In 2007, TSCI was more common, but by 2020, NTSCI had surpassed TSCI, particularly in older individuals. While men have a higher incidence of both TSCI and NTSCI, the incidence difference by sex is greater in TSCI. The incidence rates of both TSCI and NTSCI are higher in older individuals, particularly those in their 70s and 80s. For TSCI, falls and traffic accidents are the most common causes, with falls being more prevalent in older adults. Cervical SCIs are the most common TSCI, especially in high-income countries like South Korea. Patients with NTSCI predominantly display paraplegia, which is usually associated with non-traumatic causes such as degenerative disorders and tumors. Higher rates of tetraplegia and paraplegia are observed with TSCI and NTSCI, respectively. The neurological levels of injury also differ between TSCI and NTSCI. Overall, SCIs are a growing concern in South Korea and there is a need for targeted interventions for their management and prevention, especially in older age groups.
PubMed: 38222829
DOI: 10.13004/kjnt.2023.19.e54 -
Movement Disorders : Official Journal... Sep 2023Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1.
BACKGROUND
Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1.
OBJECTIVE
The aim was to explore blood markers of neuroaxonal damage in AP-4-HSP.
METHODS
Plasma neurofilament light chain (pNfL) and glial fibrillary acidic protein (GFAP) levels were measured in samples from patients and age- and sex-matched controls (NfL: n = 46 vs. n = 46; GFAP: n = 14 vs. n = 21) using single-molecule array assays. Patients' phenotypes were systematically assessed using the AP-4-HSP natural history study questionnaires, the Spastic Paraplegia Rating Scale, and the SPATAX disability score.
RESULTS
pNfL levels increased in AP-4-HSP patients, allowing differentiation from controls (Mann-Whitney U test: P = 3.0e-10; area under the curve = 0.87 with a 95% confidence interval of 0.80-0.94). Phenotypic cluster analyses revealed a subgroup of individuals with severe generalized-onset seizures and developmental stagnation, who showed differentially higher pNfL levels (Mann-Whitney U test between two identified clusters: P = 2.5e-6). Plasma GFAP levels were unchanged in patients with AP-4-HSP.
CONCLUSIONS
pNfL is a potential disease marker in AP-4-HSP and can help differentiate between phenotypic subgroups. © 2023 International Parkinson and Movement Disorder Society.
Topics: Humans; Adaptor Protein Complex 4; Spastic Paraplegia, Hereditary; Intermediate Filaments; Phenotype; Mutation
PubMed: 37482941
DOI: 10.1002/mds.29524