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International Journal of Infectious... Aug 2024Infective dermatitis associated with human T-cell lymphotropic virus type-1 (HTLV-1) (IDH) is a severe form of chronically infected eczema occurring in early childhood,... (Review)
Review
Infective dermatitis associated with human T-cell lymphotropic virus type-1 (HTLV-1) (IDH) is a severe form of chronically infected eczema occurring in early childhood, although very rarely cases have been reported in adults. Most of the cases are from Jamaica and Brazil and occur in individuals with low socioeconomic status. IDH is always associated with refractory Staphylococcus aureus or beta-hemolytic Streptococcus infection of the skin and nasal vestibules. Patients with IDH may develop other even more severe HTLV-1-associated diseases, such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) of early or late appearance and adult T-cell leukemia/lymphoma. In the context of the Brazilian experience, it has been observed that 54% of IDH patients exhibit the juvenile form of HAM/TSP while the estimated incidence of adult HAM/TSP is 3%. As there are no curative treatments for HTLV-1 infection (or vaccines) or most of its associated diseases, prevention of infection is fundamental, mainly by vertical transmission, as it is responsible for the development of IDH, infantojuvenile HAM/TSP, and ATL. Public measures to reduce this transmission must be implemented urgently. Furthermore, it is recommended, mainly in HTLV-1 endemic areas, to search for HTLV-1 infection in all patients with infected eczema, even in adults.
Topics: Humans; HTLV-I Infections; Human T-lymphotropic virus 1; Brazil; Paraparesis, Tropical Spastic; Adult; Dermatitis
PubMed: 38697604
DOI: 10.1016/j.ijid.2024.107058 -
Interdisciplinary Cardiovascular and... Jun 2024Our goal was to evaluate postoperative patterns of collateral arteries to the spinal cord during occlusion of the segmental arteries supplying the artery of Adamkiewicz...
OBJECTIVES
Our goal was to evaluate postoperative patterns of collateral arteries to the spinal cord during occlusion of the segmental arteries supplying the artery of Adamkiewicz (AKA).
METHODS
Between April 2011 and December 2022, a total of 179 patients underwent thoraco-abdominal aortic aneurysm repair; 141 had an identifiable AKA on preoperative multidetector computed tomography scans, 40 underwent thoraco-abdominal aortic aneurysm replacement (TAAR) and 101 underwent thoracic endovascular aortic repair (TEVAR). New postoperative collateral blood pathways invisible on preoperative contrast-enhanced computed tomography scans were identified in 42 patients (10 patients who had TAAR vs 32 patients who had TEVAR) who underwent preoperative and postoperative multidetector computed tomography scanning for AKA identification.
RESULTS
The thoracodorsal and segmental arteries were the main collateral pathways in both groups. Th9-initiated collaterals were the most common. Collaterals from the internal thoracic artery were observed in the TEVAR group but not in the TAAR group. One patient in the TEVAR group experienced postoperative paraparesis, which was not observed in the TAAR group. Postoperative paraplegia was more common in the non-Th9-origin group, but this difference was not significant.
CONCLUSIONS
Thoracodorsal and segmental arteries may be important collateral pathways after TEVAR and TAAR. For thoracodorsal arteries, preserving the thoracodorsal muscle during the approach would be crucial; for segmental arteries, minimizing the area to be replaced or covered would be paramount. An AKA not initiated at the Th9 level poses a high risk of postoperative paraplegia.
PubMed: 38696750
DOI: 10.1093/icvts/ivae087 -
Movement Disorders Clinical Practice Jun 2024As the diagnosis of Parkinson's disease (PD) is fundamentally clinical, the usefulness of ioflupane (I) single-photon emission computed tomography (SPECT) or DaTSCAN as... (Review)
Review
BACKGROUND
As the diagnosis of Parkinson's disease (PD) is fundamentally clinical, the usefulness of ioflupane (I) single-photon emission computed tomography (SPECT) or DaTSCAN as a diagnostic tool has been a matter of debate for years. The performance of DaTSCAN is generally recommended in the follow-up of patients with a clinically uncertain diagnosis, especially in those with a suspected essential tremor, drug-induced parkinsonism, or vascular parkinsonism. However, there is a dearth of DaTSCAN findings regarding neurodegenerative parkinsonisms besides PD and atypical parkinsonisms. To date, a specific nigrostriatal dopamine uptake pattern that would help differentiate PD from the most frequent atypical parkinsonisms is yet to be described. This fact is further complicated by the possible visualization of abnormalities in the uptake pattern in patients with rarer neurodegenerative parkinsonisms.
OBJECTIVES
We aimed to summarize the current literature regarding DaTSCAN findings in patients with rare neurodegenerative parkinsonisms.
METHODS
The PubMed database was systematically screened for studies in English or Spanish up to October 15, 2023, using search terms "DaTSCAN", "ioflupane", "DaT-SPECT", "123I-FP-CIT SPECT", "dopamine transporter imaging", and "[123I] FP-CIT SPECT". Duplicated publications and studies regarding PD, atypical parkinsonisms, dystonia-parkinsonism, essential tremor, and parkinsonism due to non-degenerative causes were excluded.
RESULTS
The obtained results were reviewed and summarized, including DaTSCAN findings in fragile X-associated tremor/ataxia syndrome, prion diseases, Huntington's disease, spinocerebellar ataxia, hereditary spastic paraparesis, metabolic disorders, and other diseases (anti-IgLON5 disease, ring chromosome 20 syndrome, chorea-acanthocytosis, and neuronal ceroid lipofuscinosis).
CONCLUSIONS
This review highlights the need to determine in the future the utility and cost-effectiveness of DaTSCAN, both as a diagnostic and a prognostic tool, in patients with parkinsonian symptoms in rare neurodegenerative diseases.
Topics: Humans; Tomography, Emission-Computed, Single-Photon; Parkinsonian Disorders; Tropanes; Parkinson Disease
PubMed: 38693679
DOI: 10.1002/mdc3.14055 -
Cureus Mar 2024Raynaud's syndrome is characterized by paroxysmal vasospasm in the digital arterioles, following exposure to cold or stress. Pain, swelling, stiffness, and hypoesthesia...
Raynaud's syndrome is characterized by paroxysmal vasospasm in the digital arterioles, following exposure to cold or stress. Pain, swelling, stiffness, and hypoesthesia are observed as manifestations. The presence of a trophic ulcer is accompanied by a range of severe manifestations. The assaults occur in three distinct phases, namely vasospastic, plethoric, and erythema. Various approaches improve the overall well-being of a patient. It is possible to differentiate between primary and secondary Raynaud's syndrome, the latter being linked to systemic diseases. The application of botulin toxin is commonly indicated in several medical conditions including focal dystonia, spasticity with or without contractures, paraparesis in children with cerebral palsy, multiple sclerosis, brain injuries, involuntary muscle hyperactivity of a non-dystonic nature, pain management, strabismus, nystagmus, sialorrhea, and esthetic medicine. When treating Raynaud's a technique is used with injection at the base of each finger, from the palmar side, which helps with cooling and minimizing discomfort for patients. We present a clinical case of a 70-year-old female patient with Raynaud's syndrome in which we have placed 70E distributed to both hands botulin toxin type A. Improvement in the patient's symptomatology was noticed on day 3, with warming of the hands, lack of swelling, and pain with duration of the effect little over three months. The patient underwent a six-month follow-up following the therapy with botulinum toxin type A, and no indications of recurrence or advancement of Raynaud's syndrome (RS) were seen.
PubMed: 38690447
DOI: 10.7759/cureus.57327 -
Neurology. Genetics Jun 2024To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
OBJECTIVES
To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.
METHODS
Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging assessments. This was followed by short-read next-generation sequencing.
RESULTS
Analysis of next-generation sequencing data uncovered compound heterozygous variants in (NM_058004.4: c.[3883C>A];[5785A>C]; p.[(His1295Asn);(Thr1929Pro)]. Using ACMG guidelines, both variants were classified as likely pathogenic.
DISCUSSION
Here, next-generation sequencing revealed 2 novel compound heterozygous variants in the phosphatidylinositol 4-kinase alpha gene () in 2 sisters presenting with progressive pure hereditary spastic paraparesis. Pathogenic variants in have previously been associated with a spectrum of disorders including autosomal recessive perisylvian polymicrogyria, with cerebellar hypoplasia, arthrogryposis, and pure spastic paraplegia. The cases presented in this study expand the phenotypic spectrum associated with variants and contribute new likely pathogenic variants for testing in patients with otherwise unsolved hereditary spastic paraparesis.
PubMed: 38685974
DOI: 10.1212/NXG.0000000000200152 -
Cureus Mar 2024Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy involving the peripheral nervous system. Autonomic dysfunctions are well-known...
Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy involving the peripheral nervous system. Autonomic dysfunctions are well-known complications of GBS and are major contributors to mortality. Autonomic dysfunctions are classically described during the acute phase of illness. In the literature, Horner syndrome as a manifestation of GBS has been reported in very few cases. Here, we describe a case of GBS with an acute presentation of flaccid paraparesis associated with unilateral Horner syndrome. Detecting the cause of acute flaccid paraparesis with unilateral Horner syndrome poses a diagnostic challenge, making it crucial for clinicians to maintain a heightened awareness for distinguishing between GBS and its variants, as well as other potential mimics.
PubMed: 38681326
DOI: 10.7759/cureus.57188 -
Genes Mar 2024The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated... (Review)
Review
The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated trafficking of integral membrane proteins. Mutations affecting all subunits of the AP-4 complex have been linked to autosomal-recessive cerebral palsy and a complex hereditary spastic paraparesis (HSP) phenotype. Our report details the case of a 14-year-old boy born to consanguineous parents, presenting psychomotor delay, severe intellectual disability, microcephaly, and trigonocephaly. Despite a history of febrile seizures, subsequent years were devoid of seizures, with normal EEG. Exome sequencing revealed pathogenic variants in both the and genes. Significantly, the patient exhibited features associated with mutations, including distinctive traits such as cranial malformations. The gene variant, linked to craniosynostosis, likely contributes to the observed trigonocephaly. This case represents the initial documentation of a concurrent mutation in the and genes, underscoring the critical role of exome analysis in unraveling complex phenotypes. Understanding these complex genotypes offers valuable insights into broader syndromic conditions, facilitating comprehensive patient management.
Topics: Humans; Male; Adolescent; Phenotype; Mutation; Peptide Termination Factors; Adaptor Protein Complex 4; Intellectual Disability; Exome Sequencing; Microcephaly; Craniosynostoses; Repressor Proteins
PubMed: 38674371
DOI: 10.3390/genes15040436 -
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 -
Pathogens (Basel, Switzerland) Mar 2024The transient depletion of monocytes alone prior to exposure of macaques to HTLV-1 enhances both HTLV-1 (wild type) and HTLV-1 (Orf-1 knockout) infectivity, but...
The transient depletion of monocytes alone prior to exposure of macaques to HTLV-1 enhances both HTLV-1 (wild type) and HTLV-1 (Orf-1 knockout) infectivity, but seroconversion to either virus is not sustained over time, suggesting a progressive decrease in virus expression. These results raise the hypotheses that either HTLV-1 persistence depends on a monocyte reservoir or monocyte depletion provides a transient immune evasion benefit. To test these hypotheses, we simultaneously depleted NK cells, CD8 T cells, and monocytes (triple depletion) prior to exposure to HTLV-1 or HTLV-1. Remarkably, triple depletion resulted in exacerbation of infection by both viruses and complete rescue of HTLV-1 infectivity. Following triple depletion, we observed rapid and sustained seroconversion, high titers of antibodies against HTLV-1 p24Gag, and frequent detection of viral DNA in the blood and tissues of all animals when compared with depletion of only CD8 and NK cells, or monocytes alone. The infection of macaques with HTLV-1 or HTLV-1 was associated with higher plasma levels of IL-10 after 21 weeks, while IL-6, IFN-γ, IL-18, and IL-1β were only elevated in animals infected with HTLV-1. The repeat depletion of monocytes, NK, and CD8 cells seven months following the first exposure to HTLV-1 did not further exacerbate viral replication. These results underscore the contribution of monocytes in orchestrating anti-viral immunity. Indeed, the absence of expression was fully compensated by the simultaneous depletion of CD8 T cells, NK cells, and monocytes, underlining the primary role of in hijacking host immunity.
PubMed: 38668247
DOI: 10.3390/pathogens13040292 -
NMC Case Report Journal 2024Capillary hemangiomas are benign tumors comprising a lobulated proliferation of capillary vessels frequently located in the soft tissues of the neck and head. Spinal...
Capillary hemangiomas are benign tumors comprising a lobulated proliferation of capillary vessels frequently located in the soft tissues of the neck and head. Spinal intradural capillary hemangiomas are rare, particularly intramedullary lesions. To our knowledge, only 31 cases of spinal intramedullary capillary hemangiomas have been reported. Here, we describe a rare case of a thoracic capillary hemangioma comprising extramedullary and intramedullary components. A 51-year-old male patient presented with bilateral lower extremity numbness and subsequent paraparesis, sensory disturbance, and bladder-bowel dysfunction with a subacute clinical course. Magnetic resonance imaging revealed a mass lesion with intramedullary and intradural extramedullary components at the Th9-10 vertebrae level and widespread spinal cord edema. Contrast-enhanced computed tomography revealed abnormal vessels on the dorsal spinal cord surface. Spinal angiography revealed a light-stained mass lesion fed by the radiculopial artery from the right Th11 intercostal artery. The tumor was resected en bloc, and the histological diagnosis was a capillary hemangioma. Postoperatively, the spinal cord edema diminished, and the patient was discharged from the convalescent rehabilitation ward. Although intramedullary capillary hemangioma is a rare spinal tumor and its preoperative diagnosis is difficult, it should be considered in the differential diagnosis of spinal intramedullary tumors.
PubMed: 38666032
DOI: 10.2176/jns-nmc.2023-0205