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Veterinary Sciences Apr 2024A 13-month-old, neutered, male, domestic shorthair cat was referred with a history of progressive paraparesis, proprioceptive ataxia, and lumbar spinal pain....
A 13-month-old, neutered, male, domestic shorthair cat was referred with a history of progressive paraparesis, proprioceptive ataxia, and lumbar spinal pain. Neurological examination revealed non-ambulatory paraparesis consistent with L4-S1 myelopathy. Magnetic resonance of the thoracolumbar spinal cord identified a dorsal intradural extramedullary space-occupying lesion extending from L5 to L6. It was homogeneously hyperintense in T2-weighted imaging and isointense in T1-weighted imaging and exhibited marked and homogeneous contrast enhancement in the T1-weighted post-contrast imaging. The removed tissue was composed of neoplastic cells arranged as pseudostratified or multilayered trabecular and tubular structures, supported by internal and external limiting PAS-positive membranes. The neoplastic cells were immunoreactive for vimentin and NSE and negative for GFAP, Olig2, synaptophysin, PCK, S-100, NeuN, and nestin. The Ki-67 nuclear labeling index was up to 90%. The tumor was consistent with the diagnosis of medulloepithelioma, which is most frequently reported as an intraocular tumor. The morphological and immunohistochemical features of the tumor showed remarkable concordance with most human medulloepitheliomas. This is the first spinal cord medullopethelioma report in a cat, with the clinical, neuroradiological, histological, and immunohistochemical findings being described.
PubMed: 38668444
DOI: 10.3390/vetsci11040177 -
Expert Review of Neurotherapeutics 2023Nearly 2-3% of those 10 to 20 million individuals infected with the Human T-cell lymphotropic virus type-1 (HTLV-1); are predisposed to developing HTLV-1-associated... (Review)
Review
INTRODUCTION
Nearly 2-3% of those 10 to 20 million individuals infected with the Human T-cell lymphotropic virus type-1 (HTLV-1); are predisposed to developing HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). It is a neuro-inflammatory disease; differentiated from multiple sclerosis based on the presence of typical neurologic symptoms, confirmation of HTLV-1 infection, and other molecular biomarkers.
AREAS COVERED
A brief review of the epidemiology, host immune responses, and molecular pathogenesis of HAM/TSP is followed by detailed discussions about the host-related risk factors for developing HAM/TSP and success/failure stories of the attempted management strategies.
EXPERT OPINION
Currently, there is no effective treatment for HAM/TSP. Anti-retroviral therapy, peculiar cytokines (IFN-α), some anti-oxidants, and allograft bone marrow transplantation have been used for treating these patients with limited success. Under current conditions, asymptomatic carriers should be examined periodically by a neurologist for early signs of spinal cord injury. Then it is crucial to determine the progress rate to adapt the best management plan for each patient. Corticosteroid therapy is most beneficial in those with acute myelitis. However, slow-progressing patients are best managed using a combination of symptomatic and physical therapy. Additionally, preventive measures should be taken to decrease further spread of HTLV-1 infection.
Topics: Humans; Paraparesis, Tropical Spastic; Human T-lymphotropic virus 1; HTLV-I Infections; Cytokines; T-Lymphocytes
PubMed: 37933802
DOI: 10.1080/14737175.2023.2272639 -
Neurology India 2023
Topics: Humans; Angiolipoma; Paraparesis; Spine; Spinal Neoplasms; Magnetic Resonance Imaging
PubMed: 37929504
DOI: 10.4103/0028-3886.388084 -
The Journal of Thoracic and... Oct 2023Multisegment thoracic aortic disease typically requires total aortic arch replacement, affects a heterogenous population, and carries a high risk even at centers of...
BACKGROUND
Multisegment thoracic aortic disease typically requires total aortic arch replacement, affects a heterogenous population, and carries a high risk even at centers of excellence. Risk has been associated with the duration of operation and complexity of repair. A novel branched stented anastomosis frozen elephant trunk repair (B-SAFER) technique has been developed at our center and is currently being studied as a physician-sponsored investigation device exemption (PS-IDE).
OBJECTIVE
This study aimed to assess the early safety of using this investigational technique to treat the proximal aorta in subjects with aortic disease involving multiple segments.
METHODS
This prospective, single center, nonrandomized study enrolled patients undergoing B-SAFER for acute aortic syndrome (n = 73), aortic aneurysm with chronic aortic dissection (n = 68), degenerative aortic aneurysm (n = 33), or congenital aortic arch disease (n = 4). Devices are delivered antegrade under hypothermic circulatory arrest, and the arch reconstruction is performed as a single anastomosis single stent (SASS; n = 70), single anastomosis multiple stent (SAMA; n = 68), multiple anastomosis single stent (MASS; n = 21), or multiple anastomosis multiple stent (MAMS; n = 16) reconstruction. The primary safety endpoints were operative mortality, disabling stroke, and paraparesis/paralysis.
RESULTS
Between May 27, 2021, and December 31, 2022, 178 patients underwent B-SAFER in the configurations and for the indications as described above. The median patient age was 65 years (range, 21 to 85 years), and 52 (29%) were female. The median cardiopulmonary bypass time was 188 minutes (interquartile range [IQR], 155 to 226 minutes), and 97% of the patients underwent repair with antegrade brain perfusion for a median of 46 minutes (IQR, 38 to 61 minutes). Operative mortality occurred in 10 patients (5.6%, including 6 [8.2%] with acute dissection, 2 [2.9%] with chronic dissection, 2 [6.1%] with degenerative aneurysm, and 0 with a congenital disorder), disabling stroke in 5 patients (2.9%), and paraparesis in 1 patient. Other serious complications included respiratory failure (n = 20; 11.4%) and acute kidney injury (n = 18; 10%). Thirty-two patients (18%) had undergone second-stage repairs (28 endovascular and 4 open), with 1 operative mortality after that procedure due to distal rupture. Estimated survival was 95% at 30 days, 88% at 90 days, 84% at 6 months, and 79% at 1 year. One-year survival differed by indication (72% for acute dissection, 91% for chronic dissection, 71% for degenerative aneurysm, and 100% for congenital disorders).
CONCLUSIONS
The B-SAFER technique for total arch replacement in a complex cohort of patients with various indications for surgery is a safe and reproducible operation, as demonstrated by the early results from a very inclusive PS-IDE study. Further follow-up and analysis will help refine the technique. Novel devices to perform this procedure should be developed.
PubMed: 37802330
DOI: 10.1016/j.jtcvs.2023.09.069 -
Neurogenetics Apr 2024Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance... (Review)
Review
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or Marinesco-Sjögren Syndrome. Herein, we report five SPG46 patients harbouring five novel GBA2 mutations, the largest series described in Italy so far. Probands were enrolled in five different centres and underwent neurological examination, clinical cognitive assessment, column imaging for scoliosis assessment, ophthalmologic examination, brain imaging, GBA2 activity in peripheral blood cells and genetic testing. Their phenotype was consistent with HSP, with notable features like upper gaze palsy and movement disorders. We review demographic, genetic, biochemical and clinical information from all documented cases in the existing literature, focusing on the global distribution of cases, the features of the syndrome, its variable presentation, new potential identifying features and the significance of measuring GBA2 enzyme activity.
Topics: Adult; Female; Humans; Male; Middle Aged; Glucosylceramidase; Italy; Mutation; Pedigree; Phenotype; Spastic Paraplegia, Hereditary
PubMed: 38334933
DOI: 10.1007/s10048-024-00749-9 -
World Neurosurgery Mar 2024Intramedullary meningiomas are an exceptionally rare subtype of spinal tumors, accounting for only 5% of primary spinal neoplasms. Given their scarcity and unique... (Review)
Review
BACKGROUND
Intramedullary meningiomas are an exceptionally rare subtype of spinal tumors, accounting for only 5% of primary spinal neoplasms. Given their scarcity and unique characteristics, understanding optimal management approaches is crucial for improved clinical decision-making. This systematic review aims to consolidate existing literature and present a detailed case illustration to enhance understanding of this uncommon spinal tumor entity.
METHODS
A systematic search adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was conducted. Eligible studies included case reports, case series, cohort studies, reviews, and meta-analyses. Data extraction and synthesis focused on demographic characteristics, tumor location, clinical presentation, imaging findings, surgical interventions, histopathological features, and outcomes.
RESULTS
A total of 15 high-quality scientific articles were included in the systematic review, providing insights into various aspects of intramedullary meningiomas. Demographic analysis revealed a broad age distribution with an equal gender distribution among affected patients. Common clinical presentations included difficulty walking, sensory disturbances, spastic paraparesis, and urinary incontinence. Neuroimaging findings demonstrated heterogeneous signal intensity variations on T1- and T2-weighted images, with variable enhancement patterns on gadolinium-enhanced images. Surgical interventions, predominantly total resection, resulted in favorable postoperative outcomes in most cases.
CONCLUSIONS
Intramedullary meningiomas pose diagnostic and therapeutic challenges due to their rarity and unique characteristics. Tailored surgical approaches, incorporating techniques such as intraoperative neurophysiological monitoring and fluorescence-aided resection, are crucial for minimizing neurological deficits and optimizing patient outcomes. Despite their infrequency, recognizing intramedullary meningiomas in the differential diagnosis of spinal tumors is essential for prompt diagnosis and timely intervention, ultimately improving patient prognosis.
PubMed: 38548054
DOI: 10.1016/j.wneu.2024.03.124 -
The Journal of Infectious Diseases Dec 2023Mother-to-child transmission (MTCT) of human T-lymphotropic virus type 1 (HTLV-1) is an important route of transmission that can cause lifelong infection. There is high... (Review)
Review
BACKGROUND
Mother-to-child transmission (MTCT) of human T-lymphotropic virus type 1 (HTLV-1) is an important route of transmission that can cause lifelong infection. There is high morbidity and mortality due to adult T-cell leukemia/lymphoma, HTLV-1-associated myelopathy (HAM), and other inflammatory disorders. These conditions develop in nearly 10% of people with HTLV-1 infection, with a higher risk if infection occurs early in life. Identification of risk factors can inform targeted measures to reduce HTLV-1 MTCT. This study aimed to investigate the potential of cesarean delivery to prevent HTLV-1 MTCT.
METHODS
We performed a review of the cases of women and their offspring under regular follow-up at the HTLV-1 outpatient clinic at the Institute of Infectious Diseases Emilio Ribas.
RESULTS
A total of 177 HTLV-1-infected women and 369 adult offspring were investigated. Overall, 15% of the children were positive for HTLV-1 and 85% were negative. Regarding vertical transmission, we found that a breastfeeding duration of >6 months was associated with MTCT. Moreover, maternal proviral load was not associated with transmission, but high educational level and cesarean delivery were identified as protective factors.
CONCLUSIONS
HTLV-1 MTCT was associated with mother's age at delivery of >25 years, low educational level, prolonged breastfeeding, and vaginal delivery.
Topics: Adult; Pregnancy; Humans; Female; Human T-lymphotropic virus 1; Infectious Disease Transmission, Vertical; HTLV-I Infections; Paraparesis, Tropical Spastic; Breast Feeding
PubMed: 37386934
DOI: 10.1093/infdis/jiad219 -
Journal of Neurology Dec 2023Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of...
BACKGROUND AND OBJECTIVES
Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case. Following the identification of prominent white matter abnormalities in a subject with CAPN1 variants, which delayed the diagnosis, we aimed to verify the presence of MRI patterns of white matter involvement specific to this HSP.
METHODS
We performed a retrospective radiological qualitative analysis of 15 subjects with SPG76 (4 previously unreported) initially screened for white matter involvement. Moreover, we performed quantitative analyses in our proband with available longitudinal studies.
RESULTS
We observed bilateral, periventricular white matter involvement in 12 subjects (80%), associated with multifocal subcortical abnormalities in 5 of them (33.3%). Three subjects (20%) presented only multifocal subcortical involvement. Longitudinal quantitative analyses of our proband revealed increase in multifocal white matter lesion count and increased area of periventricular white matter involvement over time.
DISCUSSION
SPG76 should be added to the list of HSPs with associated white matter abnormalities. We identified periventricular white matter involvement in subjects with SPG76, variably associated with multifocal subcortical white matter abnormalities. These findings, in the presence of progressive spastic paraparesis, can mislead the diagnostic process towards an acquired white matter disorder.
Topics: Humans; White Matter; Retrospective Studies; Spastic Paraplegia, Hereditary; Magnetic Resonance Imaging; Paraparesis, Spastic
PubMed: 37578488
DOI: 10.1007/s00415-023-11918-5 -
The Egyptian Heart Journal : (EHJ) :... May 2024Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for...
BACKGROUND
Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for implementing surgical intervention and averting life-threatening complications.
CASE PRESENTATION
We reported the case of a 49-year-old male patient who presented sudden legs weakness and slurred speech and was admitted 10 h later in emergency department. Physical examination was significant for paraparesis and paraphasia. Cardiac and carotid auscultation was normal. CT brain revealed multiple acute ischemic strokes and MRA was suggestive of cerebral vasculitis. As pre-therapy assessment, the EKG revealed no electrical abnormalities and the chest X-ray showed signs of left atrial enlargement. Transthoracic and transesophageal echocardiography showed a left atrial mass attached to the interatrial septum, measuring 9*5*4 cm and extending into the left ventricular cavity during diastole, which suggested the diagnosis of left atrial myxoma. The patient was referred for open-heart surgery and histopathological examination confirmed the diagnosis of myxoma. The patient weaned off from cardiopulmonary bypass and the postoperative period was uneventful.
CONCLUSION
We reported an interesting case with an unusual and misleading neurological presentation of a cardiac myxoma. The unpredictability of serious complications occurrence must awaken our medical flair, for an early diagnosis among a long list of differentials.
PubMed: 38782794
DOI: 10.1186/s43044-024-00488-0