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Journal of Inherited Metabolic Disease Jan 2015Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years.... (Review)
Review
Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it appears that all organs and systems may be affected. The main clinical presentations can be divided into (1) Diseases affecting the central and peripheral nervous system. Complex lipid synthesis disorders produce prominent motor manifestations due to upper and/or lower motoneuron degeneration. Motor signs are often complex, associated with other neurological and extra-neurological signs. Three neurological phenotypes, spastic paraparesis, neurodegeneration with brain iron accumulation and peripheral neuropathies, deserve special attention. Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental overgrowth disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations. Lipidomics and molecular functional studies could help to elucidate the mechanism(s) of dominant versus recessive inheritance observed for the same gene in a growing number of these disorders.
Topics: Ataxia; Bone Diseases, Developmental; Fatty Liver; Humans; Hypertriglyceridemia; Ichthyosis; Jaundice; Leber Congenital Amaurosis; Lipid Metabolism, Inborn Errors; Lipids; Lipomatosis; Liver Diseases; Macular Degeneration; Neurodegenerative Diseases; Paraparesis, Spastic; Peripheral Nervous System Diseases; Phenotype; Retinal Dystrophies; Retinitis Pigmentosa; Spastic Paraplegia, Hereditary; Stargardt Disease
PubMed: 25413954
DOI: 10.1007/s10545-014-9776-6 -
Ethiopian Journal of Health Sciences Jul 2022Available data on the burden of Human T-cell lymphotropic virus type I/II infection for eastern Africa, limited to Ethiopia, Mozambique, and Rwanda, show prevalence...
BACKGROUND
Available data on the burden of Human T-cell lymphotropic virus type I/II infection for eastern Africa, limited to Ethiopia, Mozambique, and Rwanda, show prevalence lower than elsewhere in Africa (0% - 1.8%). Even if Tropical Spastic Paraparesis occurs in an endemic form in Ethiopia, its seroprevalence is low. Over a lifetime, it is estimated that 1-2% of Human T-cell lymphotropic virus type I/ II -infected individuals will develop progressive and disabling inflammatory clinical manifestations. We are reporting this case since it signifies the existence of seropositive Tropical Spastic Paraparesis in our setting and the need to properly diagnose this condition.
CASE PRESENTATION
We are reporting a 45 years old female patient from Addis Ababa, Ethiopia, who presented with progressive weakness of the lower limbs and urinary urge incontinence of five years duration. Serology for Human T-cell lymphotropic virus type I/ II antibody was positive. She was diagnosed to have probable tropical spastic paraparesis after fulfilling World Health Organization diagnostic criteria for tropical spastic paraparesis with the level of ascertainment. Symptoms showed transient improvements after providing five days of Methylprednisolone followed by low doses of corticosteroids and Azathioprine. The patient is now significantly disabled and wheelchair-bound.
CONCLUSIONS
The patient described here signifies a probable Human T-cell lymphotropic virus type I/ II - associated myelopathy/tropical spastic paraparesis in Ethiopian women. This case highlights the existence of Human T-cell lymphotropic virus type I/II - associated myelopathy/ tropical spastic paraparesis within our setting and the need to properly diagnose this condition.
Topics: Ethiopia; Female; Human T-lymphotropic virus 1; Humans; Middle Aged; Paraparesis, Tropical Spastic; Prevalence; Seroepidemiologic Studies
PubMed: 35950079
DOI: 10.4314/ejhs.v32i4.24 -
Medicina (Kaunas, Lithuania) Oct 2022ATL is a rare but a highly aggressive T-cell neoplasm associated with human T-cell leukemia virus-1 (HTLV-1) infection. Human T-cell lymphotropic virus type-1 (HTLV-1)... (Review)
Review
ATL is a rare but a highly aggressive T-cell neoplasm associated with human T-cell leukemia virus-1 (HTLV-1) infection. Human T-cell lymphotropic virus type-1 (HTLV-1) is a oncogenic retrovirus responsible for the development of adult T-cell leukemia (ATL), but also for other non-malignant diseases, such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). HTLV-1 has a higher prevalence in Japan, the Caribbean, South America, intertropical Africa, Romania, and northern Iran. ATL patients can have an extensive spectrum of neurological manifestations. Numerous factors can be implicated, such as central nervous system infiltrates, neurolymphomatosis, complications to medication or allogeneic stem cell transplantation, HAM/TSP, infections, metabolic disturbances. The neurological complications are not always easy to recognize and treat. Thus, this review underlines the necessity of a multidisciplinary approach in ATL patients with neurological symptomatology.
Topics: Adult; Humans; Leukemia-Lymphoma, Adult T-Cell; Paraparesis, Tropical Spastic; Human T-lymphotropic virus 1; Central Nervous System; Africa
PubMed: 36363509
DOI: 10.3390/medicina58111553 -
Cardiovascular Journal of Africa Jan 2018Adult cardiac surgery is associated with significant perioperative morbidity and mortality rates, mainly in elderly patients with co-morbidities. A series of...
Adult cardiac surgery is associated with significant perioperative morbidity and mortality rates, mainly in elderly patients with co-morbidities. A series of postoperative complications may arise and delay the recovery of patients undergoing cardiac surgery. Such complications also increase the burden of resource use and may affect late survival rates. Neurological complications appear mainly as stroke of varying degrees, with impairment of mobility and ability of the patient. We describe a rare case of progressive paraparesis after on-pump coronary artery bypass grafting, and review its aetiology, diagnosis and management.
Topics: Aged; Brain Edema; Cardiopulmonary Bypass; Coronary Artery Bypass; Coronary Artery Disease; Fatal Outcome; Guillain-Barre Syndrome; Humans; Magnetic Resonance Imaging; Male; Paraparesis; Patient Positioning; Shock, Septic; Spinal Cord Compression; Spinal Cord Ischemia; Time Factors; Treatment Outcome
PubMed: 29582882
DOI: 10.5830/CVJA-2017-014 -
The Western Journal of Medicine Mar 1990Tropical spastic paraparesis or human T-lymphotropic virus type I (HTLV-I)-associated myelopathy is a degenerative encephalomyelopathy with pyramidal tract dysfunction... (Review)
Review
Tropical spastic paraparesis or human T-lymphotropic virus type I (HTLV-I)-associated myelopathy is a degenerative encephalomyelopathy with pyramidal tract dysfunction affecting the lower extremities. It is associated with HTLV-I infection and found primarily in the Caribbean region and in southwestern Japan. Five cases of tropical spastic paraparesis (or HTLV-I-associated myelopathy) in Hawaii are reported. All five patients were born in Hawaii; four are women. Each of the patients has parents who were from HTLV-I-endemic areas of Japan. Two of these patients had serum antibodies to HTLV-I. Five of six of the spouses and children of the seropositive patients were also seropositive. Viral cultures of lymphocytes from both seropositive patients and two of the three seropositive children were positive for HTLV-I. None of the five patients had a history of antecedent blood transfusion, multiple sexual partners, or intravenous drug use. There is no evidence of adult T-cell leukemia or lymphoma in any of the patients or their families. Given the increasing seroprevalence of HTLV-I in the United States, clinicians need to be alert to new cases of this disorder.
Topics: Back Pain; Enzyme-Linked Immunosorbent Assay; Female; HTLV-I Antibodies; HTLV-I Infections; Hawaii; Human T-lymphotropic virus 1; Humans; Leg; Male; Muscle Cramp; Paraparesis, Tropical Spastic; Pedigree; Pyramidal Tracts
PubMed: 2139754
DOI: No ID Found -
The Pan African Medical Journal 2017This case study is based on a real-life outbreak investigation undertaken in Mozambique in 1981. This case study describes and promotes one particular approach to...
This case study is based on a real-life outbreak investigation undertaken in Mozambique in 1981. This case study describes and promotes one particular approach to unknown disease outbreak investigation. Investigational procedures, however, may vary depending on location and outbreak. It is anticipated that the epidemiologist investigating an unknown disease outbreak will work within the framework of a "multidisciplinary investigation team". It is through the collaborative efforts of this team, with each member playing a critical role, that outbreak investigations are successfully completed. Some aspects of the original outbreak and investigation have, however, been altered to assist in meeting the desired teaching objectives and to allow completion of the case study in less than 3 hours.
Topics: Cooperative Behavior; Disease Outbreaks; Epidemiologic Methods; Epidemiology; Humans; Interdisciplinary Communication; Mozambique; Paraparesis, Spastic; Public Health
PubMed: 28721170
DOI: 10.11604/pamj.supp.2017.27.1.12623 -
International Journal of Infectious... 1999The purpose of this review is to present some concepts on the etiology of tropical spastic paraparesis or human T-cell lymphotropic virus-I (HTLV-I)-associated... (Review)
Review
The purpose of this review is to present some concepts on the etiology of tropical spastic paraparesis or human T-cell lymphotropic virus-I (HTLV-I)-associated myelopathy (TSP/HAM). The large number of syndromes that have been associated with HTLV-I (60 to date), the existence of TSP/HAM cases associated with other retroviruses (human immunodeficiency virus-2 [HIV-2], HTLV-II), the existence of many TSPs without HTLV-I, and the evidence of clear epidemiologic contradictions in TSP/HAM indicate that the etiopathogenesis of TSP/HAM is not yet clear. Tropical spastic paraparesis/HAM affects patients of all human ethnic groups, but usually in well localized and relatively isolated geographic regions where HTLV-I has been endemic for a long time. Environmental factors and geographic locations appear to be critical factors. Because the neuropathology of TSP/HAM suggests a toxometabolic, rather than a viral cause, it is proposed that an intoxication similar to neurolathyrism could account for some of TSP/HAM cases, mainly in tropical and subtropical countries. If this were the case, HTLV-I could be a cofactor or act as a bystander. it is possible that co-infection with another agent is necessary to produce TSP/HAM and most of the syndromes associated with HTLV-I.
Topics: Animals; Antibodies, Viral; Blood Transfusion; Brain; Environmental Exposure; Fabaceae; Human T-lymphotropic virus 1; Humans; Paraparesis, Tropical Spastic; Plants, Medicinal; Rats; Retroviridae; Spinal Cord
PubMed: 10460931
DOI: 10.1016/s1201-9712(99)90041-3 -
Neurology India 2023Leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic...
Leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with white matter abnormalities detected on magnetic resonance imaging (MRI) often present a diagnostic challenge to both general and specialist neurologists. Patients typically present with a progressive syndrome including various combinations of cognitive impairment, movement disorders, ataxia, and upper motor neuron signs. There are a number of important and treatable acquired causes for this imaging and clinical presentation; one of the causes is hyperhomocystinemia due to 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency. MTHFR deficiency is a genetic disorder that can occur at any age and can be easily detected by increased serum homocysteine levels and it is a treatable cause. Metabolic therapies like betaine were shown to be effective in children and adults to stop the disease progression and sometimes improve neurologic disabilities. Herein, we report a 16-year-old male with gradually progressive spastic paraparesis with history of cerebral venous sinus thrombosis and poor scholastic performance. The patient was diagnosed with MTHFR enzyme deficiency presenting as leukodystrophy with spastic paraparesis, which is treatable on early diagnosis. Treatment with betaine produced a rapid decline of homocysteine and improved the condition.
Topics: Adolescent; Humans; Male; Betaine; Demyelinating Diseases; Homocystinuria; Methylenetetrahydrofolate Reductase (NADPH2); Paraparesis, Spastic
PubMed: 37148062
DOI: 10.4103/0028-3886.375409 -
Journal of Vascular Surgery Nov 2008Traumatic thoracic aortic injuries are associated with high mortality and morbidity. These patients often have multiple injuries, and delayed aortic repair is frequently... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Traumatic thoracic aortic injuries are associated with high mortality and morbidity. These patients often have multiple injuries, and delayed aortic repair is frequently used. Endoluminal grafts offer an alternative to open surgical repair. We performed a meta-analysis of comparative studies evaluating endovascular vs open repair of these injuries.
METHODS
A systematic search of studies reporting treatment of traumatic aortic injury was performed using the following databases: Medline/PubMed, CINAHL, Proquest, Up to Date, Database of Abstracts of Reviews of Effects (DARE), ClinicalTrials.gov, the Cochrane Central Register of Controlled Trials and the Cochrane Database of Systematic Reviews. Search terms were thoracic aortic trauma, traumatic thoracic aortic injury, traumatic aortic rupture, stent graft repair, and endovascular repair. Outcomes analyzed were procedure-related mortality, overall 30-day mortality, and paraplegia/paraparesis rate using odds ratios (OR) and 95% confidence intervals (CI). Publication bias was investigated using funnel plots. Assessment of homogeneity was performed using the Q test; statistical heterogeneity was considered present at P < .05. Weighted averages of age, interval to repair, and injury severity score were compared with the Welch t test; P < .05 was considered statistically significant.
RESULTS
Seventeen retrospective cohort studies from 2003 to 2007 were included. All were nonrandomized; no prospective randomized trials were found. These studies reported on 589 patients; 369 were treated with open repair, and 220 underwent thoracic stent graft placement. There was no significant difference in age (mean 38.8 years for both) or interval to repair (mean 1.5 days for endoluminal repair; 1 day for open repair). Injury severity score was higher for patients undergoing endoluminal repair (mean, 42.4 vs 37.4 for open repair, P < .001). Procedure-related mortality was significantly lower with endoluminal repair (OR, 0.31; 95% CI, 0.15-0.66; P = .002). Overall 30-day mortality was also lower after endoluminal repair (OR, 0.44; 95% CI, 0.25-0.78; P = .005). Sixteen studies reported data for postoperative paraplegia; 215 patients were treated with endograft placement and 333 with open repair. The risk of postoperative paraplegia was significantly less with endoluminal repair (OR, 0.32; 95% CI, 0.1-0.93; P = .037). The Q test did not indicate significant heterogeneity for the outcomes of interest; publication bias was limited.
CONCLUSIONS
Meta-analysis of retrospective cohort studies indicates that endovascular treatment of descending thoracic aortic trauma is an alternative to open repair and is associated with lower postoperative mortality and ischemic spinal cord complication rates.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Aorta, Thoracic; Aortic Rupture; Blood Vessel Prosthesis Implantation; Female; Humans; Male; Middle Aged; Minimally Invasive Surgical Procedures; Odds Ratio; Paraparesis; Paraplegia; Risk Assessment; Risk Factors; Spinal Cord Ischemia; Time Factors; Treatment Outcome; Vascular Surgical Procedures
PubMed: 18632242
DOI: 10.1016/j.jvs.2008.04.060 -
Revista de NeurologiaHuman T-cell lymphotropic virus type-I (HTLV-I) causes tropical spastic paraparesis/HTLV-I associated myelopathy (TSP/HAM). Immunopathogenesis and available treatments... (Review)
Review
INTRODUCTION
Human T-cell lymphotropic virus type-I (HTLV-I) causes tropical spastic paraparesis/HTLV-I associated myelopathy (TSP/HAM). Immunopathogenesis and available treatments for TSP/HAM are reviewed.
DEVELOPMENT
At least 20 million people are infected worldwide and 0.3-4% will develop TSP/HAM. Incidence in endemic areas is around 2 cases/ 100,000 inhabitants and year. The 50% of TSP/HAM patients suffer from clinical progression during their first ten years. Progression is associated with high proviral load and ager than 50 years at onset. HTLV-I proviral DNA and m-RNA load are significantly raised in TSP/HAM patients compared to asymptomatic carriers. This antigenic load activates T cells CD8+ specific for Tax-protein, which up-regulate pro-inflammatory cytokines. Corticoids, plasma-exchange, intravenous immunoglobulins, danazol, pentoxifilline, green-tea polyphenols, lactobacillus fermented milk, zidovudine, lamivudine, monoclonal antibodies (daclizumab), interferon, and valproic acid have been used in open trials in a small number of patients. Nevertheless, their clinical efficacy is limited. Interferon alpha and beta-1a have cytostatic properties and may cause a reduction in HTLV-I proviral load.
CONCLUSIONS
High HTLV-I proviral load and an exaggerated pro-inflammatory cellular response are involved in the pathogenesis of TSP/HAM. No therapy has been conclusively shown to alter long-term disability associated with TSP/HAM. Multicentric clinical trials are necessary to assess long-term efficacy of interferon in TSP/HAM.
Topics: Adrenal Cortex Hormones; Antibodies, Monoclonal; CD8-Positive T-Lymphocytes; Diagnosis, Differential; Disease Progression; HTLV-I Infections; Human T-lymphotropic virus 1; Humans; Interferon-gamma; Paraparesis, Tropical Spastic; Spinal Cord Diseases; Viral Load
PubMed: 19206063
DOI: No ID Found