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1.
J Neuroimmunol ; 390: 578315, 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38554666

RESUMO

BACKGROUND: The article highlights upcoming potential treatments, which target different phases of inflammation and offer remyelinating strategies as well as direct and indirect neuroprotective and oligodendrocyte protective effects, providing a hopeful outlook for patients with primary and secondary progressive multiple sclerosis (PPMS and SPMS). OBJECTIVES: The review aims to identify potential treatments and ongoing clinical trials for PPMS and SPMS, and compare their mechanisms of action, efficacy, and side effects with current treatments. METHODS: We reviewed ongoing clinical trials for PPMS and SPMS on the NIH website, as well as articles from PubMed, Embase, and clinicaltrails.gov since 2010. RESULTS: BTKIs like, tolebrutinib, and fenebrutinib are being explored as potential PMS treatments. Vidofludimus calcium, an orally available treatment, has shown a reduction of active and new MRI lesions. Other treatments like simvastatin, N-acetylcysteine (NAC), and alpha-lipoic acid are being explored for their antioxidant properties. AHSCT and mesenchymal stem cell therapy are experimental options for younger patients with high inflammatory activity. CONCLUSIONS: SPMS and PPMS are being studied for new treatments and future trials should consider combination therapies targeting inflammation, demyelination, and neuronal death, as the pathogenesis of PMS involves complex factors.

2.
Ann Med Surg (Lond) ; 86(1): 472-476, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38222709

RESUMO

Introduction and importance: Rhabdomyosarcoma is a malignant tumour that originates from immature muscle cells and belongs to the category of soft-tissue sarcomas. It is predominantly diagnosed in children under the age of 6. This condition can manifest within the genitourinary tract and may exhibit non-specific symptoms such as changes in bowel habits and fever. Early detection and a comprehensive, multidisciplinary approach are essential to achieving more favourable outcomes. This report highlights an uncommon case of urogenital rhabdomyosarcoma in a 15-year-old girl, in addition to the presence of a rectovaginal fistula. Case presentation: A 15-year-old girl with presented with fever, altered bowel habits, and a lump in her lower abdomen, abdominal discomfort, and incomplete bowel evacuation. She also had faecal discharge from the vagina. Diagnostic imaging and biopsy confirmed urogenital rhabdomyosarcoma with a rectovaginal fistula. The patient is currently undergoing induction chemotherapy and is scheduled for radiation therapy and surgery. Clinical discussion: Rhabdomyosarcoma is a rare paediatric oncologic concern due to its aggressive nature and potential metastasis. The presentation varies based on age, tumour location, and metastasis presence. This patient presented with altered bowel habits, a pelvic mass and unusual feculent discharge, suggesting a rectovaginal fistula. Diagnostic imaging confirmed the diagnosis, and induction chemotherapy led to a positive response and reduced tumour size. Conclusion: Urogenital rhabdomyosarcoma is an aggressive malignancy with non-specific symptoms, making early diagnosis challenging. An accurate diagnosis requires high suspicion, imaging, and a biopsy. Multidisciplinary management, including surgery, chemotherapy, and radiation therapy, improves outcomes and improves paediatric patients' prognosis and quality of life.

3.
J Neurol Sci ; 454: 120830, 2023 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-37856996

RESUMO

INTRODUCTION: Paraneoplastic neurologic syndromes (PNS) and autoimmune encephalitis (AIE) are immune-mediated disorders. PNS is linked to cancer, while AIE may not Their clinical manifestations and imaging patterns need further elucidation. OBJECTIVE/AIMS: To investigate the clinical profiles, antibody associations, neuroimaging patterns, treatments, and outcomes of PNS and AIE. METHODS: A systematic review of 379 articles published between 2014 and 2023 was conducted. Of the 55 studies screened, 333 patients were diagnosed with either PNS or AIE and tested positive for novel antibodies. Data on demographics, symptoms, imaging, antibodies, cancer associations, treatment, and outcomes were extracted. RESULTS: The study included 333 patients (mean age 54 years, 67% males) with PNS and AIE positive for various novel antibodies. 84% had central nervous system issues like cognitive impairment (53%), rhombencephalitis (17%), and cerebellar disorders (24%). Neuroimaging revealed distinct patterns with high-risk antibodies associated with brainstem lesions in 98%, cerebellar in 91%, hippocampal in 98%, basal ganglia in 75%, and spinal cord in 91%, while low/intermediate-risk antibodies were associated with medial temporal lobe lesions in 71% and other cortical/subcortical lesions in 55%. High-risk antibodies were associated with younger males, deep brain lesions, and increased mortality of 61%, while low/intermediate-risk antibodies were associated with females, cortical/subcortical lesions, and better outcomes with 39% mortality. Associated cancers included seminomas (23%), lung (19%), ovarian (2%), and breast (2%). Treatments included IVIG, chemotherapy, and plasmapheresis. Overall mortality was 25% in this cohort. CONCLUSION: PNS and AIE have distinct clinical and radiological patterns based on antibody profiles. High-risk antibodies are associated with increased mortality while low/intermediate-risk antibodies are associated with improved outcomes. Appropriate imaging and antibody testing are critical for accurate diagnosis.


Assuntos
Neoplasias , Doenças do Sistema Nervoso , Síndromes Paraneoplásicas do Sistema Nervoso , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/complicações , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico por imagem , Síndromes Paraneoplásicas do Sistema Nervoso/terapia , Síndromes Paraneoplásicas do Sistema Nervoso/complicações , Autoanticorpos , Neoplasias/complicações , Neoplasias/diagnóstico por imagem , Neoplasias/terapia , Neuroimagem
4.
Ann Med Surg (Lond) ; 85(10): 5214-5218, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37811081

RESUMO

Introduction: Duplication of the renal collecting system, known as the duplex collecting system, is a common congenital anomaly of the urinary tract. It can be partial or complete and affects 0.7-4% of the population, with a higher incidence in females. Ureteroceles are cystic dilations of the distal ureter and are often asymptomatic, particularly in adults. Case presentation: The authors present a case of a newly diagnosed partial duplex collecting system of the left kidney and left intravesical ureterocele, which was diagnosed for the first time at the age of 47 years, along with a history of symptoms suggestive of recurrent urinary tract infection and a urethral calculus which was surgically managed 5 years ago. Clinical discussion: The presence of a duplex collecting system can be observed even in males, with the possibility of recurrent urinary tract infection and the rare occurrence of an intravesical ureterocele. While ureteroceles are typically considered a congenital condition, they can also be diagnosed in adults. Conclusion: A partial duplex collecting system of the left kidney with left intravesical ureterocele in the age of 47 years in a male is a rare occurrence. Diagnosis and management of such urological cases can be challenging especially in a resource limited setting, which can be mitigated by awareness of unusual presentations, proper antenatal care, and access to proper diagnostic tools.

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