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1.
J Chemother ; : 1-6, 2024 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-38946180

RESUMO

Studies evaluating Cisplatin-induced nephrotoxicity in minorities are limited. We conducted a retrospective review of adult patients receiving cisplatin from 2019 to 2023 at an inner-city hospital. Renal indices were obtained at baseline and after cycles 1, 2, and 3 of Cisplatin. A total of 93 patients were included, 46% were male. Median age was 57 years. About 40% were Black, 13% White, and 42% Hispanic. About 54% were uninsured. About 16% of the patients developed AKI after cycle 1 of cisplatin, 5% after cycle 2%, and 17% after cycle 3. There was no statistically significant correlation between race, sex, BMI and development of cisplatin-induced AKI. Repeated measures ANOVA test indicated a statistically significant and cumulative rise in creatinine level following cisplatin therapy [Wilks' Lambda = 0.003, F(1,26)=13.7, η2 = 0.44]. Our study in a minority, low socioeconomic population highlights the progressive kidney injury following each cycle of cisplatin therapy. Further studies targeting this specific population are warranted to develop tailored interventions.

2.
Ann Hematol ; 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38864906

RESUMO

The pathophysiology of immune thrombocytopenia (ITP) involves immune-mediated platelet destruction. The presence of adipose tissue in obese individuals creates an inflammatory environment that could potentially impact the clinical course and outcomes of ITP. However the relationship between obesity and ITP outcomes has not been well described. We evaluated ITP outcomes in 275 patients diagnosed with primary ITP from 2012 to 2022. Patients were categorized into four groups based on their body mass index (BMI) at diagnosis. Female gender was associated with a lower platelet count at the time of diagnosis at any BMI. Patients with high BMI had lower platelet counts at diagnosis and at platelet nadir (p < 0.001), an increased likelihood of requiring therapy (p < 0.001) and requiring multiple lines of therapy (p = 0.032). Non-obese patients who required corticosteroid treatment experienced a longer remission duration compared to obese patients (p = 0.009) and were less likely to be steroid-dependent (p = 0.048). Our findings suggest that obesity may be a significant risk factor for developing ITP and for ITP prognosis. Future studies are needed to evaluate the role of weight loss intervention in improving ITP outcomes.

3.
Int J Surg Case Rep ; 117: 109515, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38471208

RESUMO

INTRODUCTION AND IMPORTANCE: The Intrauterine Contraceptive Device (IUD), a widely used contraceptive since 1965, has demonstrated efficacy but is associated with complications such as bleeding, pain, and rare occurrences of perforation. This case report details an IUD migration into the peritoneal cavity, leading to acute appendicitis. CASE PRESENTATION: A 33-year-old woman, with a history of IUD insertion 16 months prior, presented with pelvic pain. Gynecological examination and computed tomography, revealed the IUD intraperitoneal migration. The patient underwent laparoscopic extraction of the IUD which was embedded in the appendix and appendectomy, with an uneventful recovery. CLINICAL DISCUSSION: This case emphasizes the complexity of IUD migration and its rare association with acute appendicitis, underscoring the importance of vigilant monitoring and prompt intervention. We also explored factors contributing to IUD perforation risk, imaging modalities for detection, and emphasizes the necessity of surgical removal upon confirmation. We highlight the fact that despite the atypical presentation with minimal symptoms, we should always consider emergency situations. Surgical intervention, particularly laparoscopy, may be the standard approach for managing migrated IUDs. CONCLUSION: We insist about the critical need for thorough assessment and vigilance in managing IUD-related complications, emphasizing timely intervention to ensure patient safety. This case contributes valuable insights into the complexities surrounding IUD migration, urging healthcare professionals to remain attentive to potential injuries in patients with a history of IUD insertion and abdominal pain.

4.
Int J Surg Case Rep ; 117: 109518, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38492316

RESUMO

INTRODUCTION: Echinococcosis, caused by larval stages of taeniid cestodes, primarily affects the liver and is commonly treated surgically. However, a complication post-treatment is biliary fistula, necessitating interventions like biliary stents. While stent complications are recognized, proximal migration leading to pneumonia is exceptionally rare. This case report details an unusual occurrence of biliary stent migration years after hepatic hydatid echinococcosis treatment. CASE PRESENTATION: A 42-year-old patient underwent 2014 surgery for a large hydatid cyst, resulting in a biliary fistula. Endoscopic sphincterotomy and biliary stent placement led to a successful outcome. Lost to follow-up, the patient reappeared in 2022 with basithoracic pain, fever, and a thoracic CT scan revealing transdiaphragmatic stent migration causing basal pneumonitis. Antibiotic therapy and endoscopic stent removal ensued with an uncomplicated recovery. CLINICAL DISCUSSION: This report emphasizes a rare complication that is proximal migration of a biliary stent 10 years post-initial placement for biliary fistula management. Despite the absence of typical risk factors. We managed a successful endoscopic retrieval. This highlights the importance of vigilance and follow-up for potential complications associated with biliary stent. Unusual presentations, like pneumonitis, underscore the need for awareness and a cautious approach. CONCLUSION: The primary complication following surgical intervention for hepatic hydatid cysts is the development of an external biliary fistula, necessitating the use of biliary stents for treatment. Given the rarity of complications observed in our case, the removal of stents post-treatment for biliary fistula becomes crucial, underscoring the significance of vigilant follow-up care.

5.
Handb Clin Neurol ; 200: 431-445, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38494295

RESUMO

Paraneoplastic neurologic syndromes (PNSs) are a group of diseases affecting the central and/or peripheral nervous system caused by immune-mediated processes directed toward antigens with shared expression in tumor and neural tissue. Germ cell tumors (GCTs) are associated with PNSs with varied clinical phenotypes. Early diagnosis of PNS is vital to potentially uncover and treat underlying tumors, improving the chances of recovery, and preventing permanent neurologic complications. In this chapter, we outline the pathophysiology and epidemiology of PNS. We briefly provide a summary of GCTs in males and females. We review the neural-specific autoantibodies and PNSs associated with GCTs and their clinical and radiologic accompaniments. We also provide an overview of the treatment and prognosis of these disorders.


Assuntos
Neoplasias Embrionárias de Células Germinativas , Doenças do Sistema Nervoso , Síndromes Paraneoplásicas do Sistema Nervoso , Masculino , Feminino , Humanos , Autoanticorpos , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/complicações , Prognóstico , Neoplasias Embrionárias de Células Germinativas/complicações
6.
Int J Surg Case Rep ; 116: 109438, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38428049

RESUMO

INTRODUCTION AND IMPORTANCE: Bouveret Syndrome, a rare form of gallstone ileus, involves the migration and impaction of a gallstone in the duodenum or stomach, causing gastric outlet obstruction. Early intervention and a comprehensive care plan are essential for favorable outcomes. CASE PRESENTATION: This article presents a case of an 82-year-old female with a history of coronary artery disease and untreated gallstones. The patient experienced nausea, vomiting, and abdominal pain for two weeks. Diagnostic procedures revealed a cholecystoduodenal fistula with a 4 cm stone lodged at the duodenojejunal angle. For our patient the gallstone was moved to the jejunum, followed by enterotomy and a latero_lateral gastroenteroanastomosis. CLINICAL DISCUSSION: The rarity of Bouveret Syndrome and its nonspecific symptoms make diagnosis challenging, necessitating differentiation from other gastrointestinal disorders. Esophagogastroduodenoscopy (EGD) and imaging, such as computed tomography (CT), play crucial roles in diagnosis. In this case, the EGD did not show gallstones up to the second part of the duodenum. Management involves a multidisciplinary approach, with supportive care for stabilization and the primary goal of removing the impacted stone. Treatment options include endoscopic, surgical, or lithotripsy techniques. Bouveret Syndrome poses challenges due to its rarity, leading to delayed diagnosis. Prognosis varies based on factors such as stone size, location, and overall patient condition. CONCLUSION: Through this case we emphasizes the importance of awareness, timely diagnosis, and appropriate management, with EGD and CT scan playing key roles in diagnosis. Surgical intervention remains a viable treatment option when endoscopic approaches are unavailable. The article highlights the controversial nature of fistula repair in Bouveret Syndrome.

7.
Transplant Cell Ther ; 30(5): 544.e1-544.e8, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38417677

RESUMO

Recent advances in graft-versus-host disease (GVHD) prophylaxis including post-transplant cyclophosphamide (PTCy) and abatacept have significantly improved outcomes following HLA-mismatched allogenic hematopoietic stem cell transplantation (allo-HSCT) and have tremendous potential for reducing racial disparities in donor availability. A recent small study employing bone marrow as the source of stem cells showed similar outcomes after 5/8 versus 7/8 matches and is currently being tested in a larger study using peripheral blood stem cells. In this study, we examine real-world alternative donor HSCT options for a minority-predominant cohort in the Bronx, NY, focusing on the availability of lesser-matched (5/8 to 7/8) donors. Records of patients who underwent HLA typing at Montefiore Medical Center (2019 to 2022) were reviewed. The National Marrow Donor Program registry was queried to evaluate the availability of donors with at least 99% likelihood of HLA match at various levels (5/8, 6/8, 7/8, 8/8). Two hundred forty-one patients were included, 70% were non-White. Although the availability of ≥7/8 donors was less common in non-White patients, 100% of patients from each group had at least one or more 5/8 and 6/8 HLA-matched donors and more than 80% of these patients had >100 potential 5/8 and 6/8 HLA-matched donors. There was no statistical difference by race or ethnicity in the mean number of donors at 5/8 and 6/8 HLA-match levels. We demonstrate through real-world data that patients from diverse ethnic and racial backgrounds have access to 5/8 and 6/8 HLA-matched donors for allo-HSCT, potentially eliminating disparities in donor availability and allowing prioritization of other donor selection characteristics such as donor age, sex, ABO, and B leader matching. Further work is needed to study whether the use of mismatched donors offers a more potent graft-versus malignancy effect and optimal GVHD prophylaxis.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Doadores não Relacionados , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Transplante de Células-Tronco Hematopoéticas/estatística & dados numéricos , Adulto , Doença Enxerto-Hospedeiro/prevenção & controle , Grupos Minoritários/estatística & dados numéricos , Estudos de Coortes , Antígenos HLA/imunologia , Idoso
8.
J Cardiovasc Dev Dis ; 10(12)2023 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-38132665

RESUMO

Background: Chronic obstructive pulmonary disease-associated pulmonary hypertension (PH-COPD) results in a significant impact on symptoms, quality of life, and survival. There is scant and conflicting evidence about the use of pulmonary hypertension (PH) specific therapy in patients with PH-COPD. Study Design and Methods: PubMed, OVID, CINAHL, Cochrane, Embase, and Web of Science were searched using various MESH terms to identify randomized controlled trials (RCTs) or observational studies investigating PH-specific therapies in patients with severe PH-COPD, defined by mean pulmonary artery pressure (mPAP) of more than 35 mm Hg or pulmonary vascular resistance (PVR) of more than 5 woods units on right heart catheterization. The primary outcome was a change in mPAP and PVR. Secondary outcomes were changes in six-minute walk distance (6MWD), changes in the brain-natriuretic peptide (BNP), New York Heart Association (NYHA) functional class, oxygenation, and survival. Results: Thirteen studies satisfied the inclusion criteria, including a total of 328 patients with severe PH-COPD. Out of these, 308 patients received some type of specific therapy for PH. There was a significant reduction in mPAP (mean difference (MD) -3.68, 95% CI [-2.03, -5.32], p < 0.0001) and PVR (MD -1.40 Wood units, 95% CI [-1.97, -0.82], p < 0.00001). There was a significant increase in the cardiac index as well (MD 0.26 L/min/m2, 95% CI [0.14, 0.39], p < 0.0001). There were fewer patients who had NYHA class III/lV symptoms, with an odds ratio of 0.55 (95% CI [0.30, 1.01], p = 0.05). There was no significant difference in the 6MWD (12.62 m, 95% CI [-8.55, 33.79], p = 0.24), PaO2 (MD -2.20 mm Hg, 95% CI [-4.62, 0.22], p = 0.08), or BNP or NT-proBNP therapy (MD -0.15, 95% CI [-0.46, 0.17], p = 0.36). Conclusion: The use of PH-specific therapies in severe PH-COPD resulted in a significant reduction in mPAP and PVR and increased CI, with fewer patients remaining in NYHA functional class III/IV. However, no significant difference in the 6MWD, biomarkers of right ventricular dysfunction, or oxygenation was identified, demonstrating a lack of hypoxemia worsening with treatment. Further studies are needed to investigate the use of PH medications in patients with severe PH-COPD.

9.
J Appl Microbiol ; 134(11)2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37884451

RESUMO

AIM: The present study aimed to investigate a novel antifungal compound produced by Streptomyces blastmyceticus S108 strain. Its effectiveness against clinical isolates of Candida species and its synergistic effect with conventional antifungal drugs were assessed, and its molecular mechanism of action was further studied against Candida albicans. METHODS AND RESULTS: A newly isolated strain from Tunisian soil, S. blastmyceticus S108, showed significant antifungal activity against Candida species by well diffusion method. The butanolic extract of S108 strain supernatant exhibited the best anti-Candida activity with a minimal inhibitory concentration (MIC) value of 250 µg ml-1, determined by the microdilution method. The bio-guided purification steps of the butanolic extract were performed by chromatographic techniques. Among the fractions obtained, F13 demonstrated the highest level of activity, displaying a MIC of 31.25 µg ml-1. Gas chromatography-mass spectrometry and electrospray ionization mass spectrometry analyses of this fraction (F13) revealed the glycolipidic nature of the active molecule with a molecular weight of 685.6 m/z. This antifungal metabolite remained stable to physicochemical changes and did not show hemolytic activity even at 4MIC corresponding to 125 µg ml-1 toward human erythrocytes. Besides, the glycolipid compound was combined with 5-flucytosine and showed a high synergistic effect with a fractional inhibitory concentration index value 0.14 against C. albicans ATCC 10231. This combination resulted in a decrease of MIC values of 5-flucytosine and the glycolipid-like compound by 8- and 64-fold, respectively. The examination of gene expression in treated C. albicans cells by quantitative polymerase chain reaction (qPCR) revealed that the active compound tested alone or in combination with 5-flucytosine blocks the ergosterol biosynthesis pathway by downregulating the expression of ERG1, ERG3, ERG5, ERG11, and ERG25 genes. CONCLUSION AND IMPACT OF THE STUDY: The new glycolipid-like compound, produced by Streptomyces S108 isolate, could be a promising drug for medical use against pathogenic Candida isolates.


Assuntos
Antifúngicos , Streptomyces , Humanos , Antifúngicos/química , Flucitosina/farmacologia , Candida , Streptomyces/genética , Candida albicans , Testes de Sensibilidade Microbiana , Extratos Vegetais/farmacologia
11.
Ann Hematol ; 2023 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-37468669

RESUMO

Since the FDA's approval of rasburicase use for treatment of tumor lysis syndrome (TLS), multiple cases of rasburicase-induced methemoglobinemia and hemolytic anemia have been reported among patients with G6PD deficiency. This study aims to provide a systematic review of cases reporting such adverse reactions to rasburicase. A literature review of published cases in PubMed, Embase, Cochrane, and Web of Science was conducted. Descriptive studies reporting cases of rasburicase-induced methemoglobinemia and/or hemolytic anemia in English were analyzed and summarized in this study. Forty-three cases, including a case from our institution, were included in this study. Most cases (60.5%) received rasburicase for TLS treatment. Almost all patients (93.8%) were tested for G6PD after rasburicase administration. The median time to symptom onset was 24 h. The median methemoglobin level was 10%, peaking after a median of 24 h. The median hemoglobin nadir was 6.1 g/dL, and most patients (n = 32) required blood transfusion. Out of 39 cases with reported outcomes, 35 patients (89.7%) recovered, while four patients (three females and one male) died. The median time to recovery was 4.5 days while the median time to death was 8 days. Screening for G6PD deficiency among high-risk patients is important but not practical in acutely severe settings. When prior screening for G6PD deficiency is not feasible, close monitoring for methemoglobinemia and hemolytic anemia is recommended. Exchange transfusion is increasingly reported as a potentially successful therapeutic modality. Ascorbic acid may provide limited benefits. Methylene blue should be avoided as it may exacerbate hemolysis among these patients.

13.
Neurol Clin Pract ; 12(6): 406-413, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36540139

RESUMO

Background and Objectives: Diagnostic criteria emphasize the use of sensitive and disease-specific tests to distinguish patients with rapidly progressive dementia (RPD) due to Creutzfeldt-Jakob disease (CJD) vs other causes (mimics). These tests are often performed in specialized centers, with results taking days to return. There is a need to leverage clinical features and rapidly reporting tests to distinguish patients with RPD due to CJD from those due to other causes (mimics) early in the symptomatic course. Methods: In this case-control series, clinical features and the results of diagnostic tests were compared between mimics (n = 11) and patients with definite (pathologically proven, n = 33) or probable CJD (with positive real-time quaking-induced conversion [RT-QuIC], n = 60). Patients were assessed at Mayo Clinic Enterprise or Washington University from January 2014 to February 2021. Mimics were enrolled in prospective studies of RPD; mimics met the diagnostic criteria for probable CJD but did not have CJD. Results: Mimics were ultimately diagnosed with autoimmune encephalitis (n = 6), neurosarcoidosis, frontotemporal lobar degeneration with motor neuron disease, dural arteriovenous fistula, cerebral amyloid angiopathy with related inflammation, and systemic lupus erythematous with polypharmacy. Age at symptom onset, sex, presenting features, and MRI and EEG findings were similar in CJD cases and mimics. Focal motor abnormalities (49/93, 11/11), CSF leukocytosis (4/92, 5/11), and protein >45 mg/dL (39/92, 10/11) were more common in mimics (p < 0.01). Positive RT-QuIC (77/80, 0/9) and total tau >1149 pg/mL (74/82, 2/10) were more common in CJD cases (all p < 0.01). Protein 14-3-3 was elevated in 64/89 CJD cases and 4/10 mimics (p = 0.067). Neural-specific autoantibodies associated with autoimmune encephalitis were detected within the serum (5/9) and CSF (5/10) of mimics; nonspecific antibodies were detected within the serum of 9/71 CJD cases. Discussion: Immune-mediated, vascular, granulomatous, and neurodegenerative diseases may mimic CJD at presentation and should be considered in patients with early motor dysfunction and abnormal CSF studies. The detection of atypical features-particularly elevations in CSF leukocytes and protein-should prompt evaluation for mimics and consideration of empiric treatment while waiting for the results of more specific tests.

14.
Eur Rev Med Pharmacol Sci ; 26(17): 6073-6083, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36111907

RESUMO

OBJECTIVE: Basketball players often display poor balance and increased injury rates when compared to other athletic categories. Therefore, the relationship between postural control and injury risks in basketball athletes requires investigation. The purpose of this study was to: (a) establish a postural profile of elite women basketball players, (b) compare postural control of the different playing positions to detect the vulnerability of postural balance, and (c) attempt to understand the reasons underlying these differences. PATIENTS AND METHODS: 30 elite female basketball players (aged 21.4±2.3 years) were assigned to three groups according to their playing positions (n=10 guards; n=10 forwards; n=10 centers). A one-way analysis of variance was performed to determine differences between balance test variables under three conditions (static, dynamic antero-posterior and medio-lateral). When a significant main effect was observed, Tukey's post-hoc multiple comparisons tests were used to determine statistical significance. Associations between balance and morphological variables, muscle strength and power were assessed using Pearson's correlation coefficient. RESULTS: Results reveal that basketball players had better postural control than previously studied handball players and non-athletes, but they are more dependent on vision than other categories. When comparing postural controls of playing position, centers show greater vulnerability [Y mean (OE)] than forwards: p<0.001; or guards: p<0.01), due to morphological factors (body mass r=-0.80, height r=-0.68, and lower limb length r=-0.63, and specific power r=-0.40). CONCLUSIONS: Therefore, coaches and strength and conditioning specialists should give specific focus to improving lower limb strength and power in centers and taller basketball players to mitigate against injury risks related to postural control.


Assuntos
Basquetebol , Atletas , Basquetebol/fisiologia , Estatura , Feminino , Humanos , Força Muscular/fisiologia , Equilíbrio Postural
15.
J Neurol ; 269(11): 6139-6144, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35857139

RESUMO

A growing spectrum of neurological manifestations are being recognized in association with IgLON5 autoimmunity, including recent reports of motor-neuron-disease-like phenotype. Here we describe four cases of IgLON5 autoimmunity with motor neuron involvement and evaluate an additional 109 probable or definite amyotrophic lateral sclerosis cases seen in our neuromuscular clinic for IgLON5-IgG seropositivity. The presence of parasomnias, vocal cord dysfunction or hyperkinetic movements in a patient with motor-neuron-disease-like phenotype should prompt evaluation for IgLON5-IgG autoantibodies. Recognition and treatment of this autoimmune disease with immunosuppressive agents may bring about significant neurological improvement in a minority of cases.


Assuntos
Esclerose Lateral Amiotrófica , Doença dos Neurônios Motores , Esclerose Lateral Amiotrófica/complicações , Autoanticorpos , Moléculas de Adesão Celular Neuronais , Humanos , Imunoglobulina G , Imunossupressores , Doença dos Neurônios Motores/complicações , Neurônios Motores , Fenótipo
16.
JAMA Neurol ; 79(8): 808-816, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35696196

RESUMO

Importance: Immune-mediated rippling muscle disease (iRMD) is a rare myopathy characterized by wavelike muscle contractions (rippling) and percussion- or stretch-induced muscle mounding. A serological biomarker of this disease is lacking. Objective: To describe a novel autoantibody biomarker of iRMD and report associated clinicopathological characteristics. Design, Setting, and Participants: This retrospective cohort study evaluated archived sera from 10 adult patients at tertiary care centers at the Mayo Clinic, Rochester, Minnesota, and Brigham & Women's Hospital, Boston, Massachusetts, who were diagnosed with iRMD by neuromuscular specialists in 2000 and 2021, based on the presence of electrically silent percussion- or stretch-induced muscle rippling and percussion-induced rapid muscle contraction with or without muscle mounding and an autoimmune basis. Sera were evaluated for a common biomarker using phage immunoprecipitation sequencing. Myopathology consistent with iRMD was documented in most patients. The median (range) follow-up was 18 (1-30) months. Exposures: Diagnosis of iRMD. Main Outcomes and Measures: Detection of a common autoantibody in serum of patients sharing similar clinical and myopathological features. Results: Seven male individuals and 3 female individuals with iRMD were identified (median [range] age at onset, 60 [18-76] years). An IgG autoantibody specific for caveolae-associated protein 4 (cavin-4) was identified in serum of patients with iRMD using human proteome phage immunoprecipitation sequencing. Immunoassays using recombinant cavin-4 confirmed cavin-4 IgG seropositivity in 8 of 10 patients with iRMD. Results for healthy and disease-control individuals (n = 241, including myasthenia gravis and immune-mediated myopathies) were cavin-4 IgG seronegative. Six of the 8 individuals with cavin-4 IgG were male, and the median (range) age was 60 (18-76) years. Initial symptoms included rippling of lower limb muscles in 5 of 8 individuals or all limb muscles in 2 of 8 sparing bulbar muscles, fatigue in 9 of 10, mild proximal weakness in 3 of 8, and isolated myalgia in 1 of 8, followed by development of diffuse rippling. All patients had percussion-induced muscle rippling and half had percussion- or stretch-induced muscle mounding. Four of the 10 patients had proximal weakness. Plasma creatine kinase was elevated in all but 1 patient. Six of the 10 patients underwent malignancy screening; cancer was detected prospectively in only 1. Muscle biopsy was performed in 7 of the 8 patients with cavin-4 IgG; 6 of 6 specimens analyzed immunohistochemically revealed a mosaic pattern of sarcolemmal cavin-4 immunoreactivity. Three of 6 patients whose results were seropositive and who received immunotherapy had complete resolution of symptoms, 1 had mild improvement, and 2 had no change. Conclusions and Relevance: The findings indicate that cavin-4 IgG may be the first specific serological autoantibody biomarker identified in iRMD. Depletion of cavin-4 expression in muscle biopsies of patients with iRMD suggests the potential role of this autoantigen in disease pathogenesis.


Assuntos
Doenças Musculares , Miastenia Gravis , Adulto , Idoso , Autoanticorpos , Biomarcadores , Cavéolas/metabolismo , Cavéolas/patologia , Feminino , Humanos , Imunoglobulina G , Masculino , Pessoa de Meia-Idade , Doenças Musculares/metabolismo , Miastenia Gravis/diagnóstico , Estudos Retrospectivos
17.
J Neurol Neurosurg Psychiatry ; 93(2): 196-200, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34921120

RESUMO

OBJECTIVES: To report the expanded neurological presentations and oncological associations of tripartite motif-containing protein 46 (TRIM46)-IgG seropositive patients. METHODS: Archived sera/cerebrospinal fluid (CSF) were evaluated by tissue-based immunofluorescence assay to identify patients with identical axon initial segment (AIS)-specific staining pattern. Phage immunoprecipitation sequencing (PhIP-Seq) was used to identify the putative autoantigen. RESULTS: IgG in serum (17) and/or CSF (16) from 25 patients yielded unique AIS-specific staining on murine central nervous system (CNS) tissue. An autoantibody specific for TRIM46 was identified by PhIP-Seq, and autoantigen specificity was confirmed by transfected COS7 cell-based assay. Clinical information was available for 22 TRIM46-IgG seropositive patients. Fifteen were female (68%). Median age was 67 years (range 25-87). Fifteen (68%) patients presented with subacute cerebellar syndrome (six isolated; nine with CNS accompaniments: encephalopathy (three), brainstem signs (two), myelopathy (two), parkinsonism (one)). Other phenotypes included limbic encephalitis (three), encephalopathy with/without seizures (two), myelopathy (two). Eighteen (82%) had cancer: neuroendocrine carcinomas (9; pancreatic (3), small-cell lung (4), oesophagus (1), endometrium (1)), adenocarcinomas (6; lung (2), ovarian (2), endometrial (1), breast (1)), sarcoma (2) and gastrointestinal tumour (1). Neurological symptoms in three followed immune checkpoint inhibitor (ICI) administration. CONCLUSIONS: This study supports TRIM46-IgG being a biomarker of paraneoplastic CNS disorders and expands the neurological phenotypes, oncological and ICI-related adverse event associations.


Assuntos
Autoanticorpos/líquido cefalorraquidiano , Proteínas do Tecido Nervoso/líquido cefalorraquidiano , Síndromes Paraneoplásicas do Sistema Nervoso/líquido cefalorraquidiano , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/líquido cefalorraquidiano , Feminino , Humanos , Encefalite Límbica/líquido cefalorraquidiano , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
18.
j.tunis.ORL chir. cerv.-fac ; 47: 9-11, 2022. figures, tables
Artigo em Francês | AIM (África) | ID: biblio-1433756

RESUMO

: The effects of chronic rhino sinusitis with polyps (CRSWP) surgery on smell symptoms have not been sufficiently studied. The aim of this study was to evaluate the impact of CRSWP surgery on smell symptoms over short and long-term follow-up and to identify the factors that might influence their evolution. Patients and methods: This was a retrospective study about 184 patients operated endoscopically for CRSWP. In post operative period, long-term local steroids were prescribed systematically. The sense of smell was evaluated preand post-operatively according to a subjective score (1: good smell, 2: hyposmia, 3: anosmia). Some factors, related to the patient, the CRSWP and the treatment, were tested in order to identify predictors of smell outcome after surgery.. Results: Before surgery, the anosmia and the hyposmia were noted in 90.8% and in 8.7% of cases, respectively. At six months after surgery, the improvement of olfactory score was significant: 84% of patient had the score 1 compared with 0.5% preoperatively (p < 0.0001). This improvement was maintained during the 2 first years and decreased significantly at 3 years, although an average delay of polyps recurrence was 23.4 months. Among the factors studied in our series, only the observance of postoperative corticosteroids was retained as a predictor of smell recovery after surgery (p = 0,011). Conclusion: CRSWP surgery can significantly improve the smell sense, especially during the two first years. This effect can be sustainable if good post operative compliance for local corticosteroid are achieved


Assuntos
Humanos , Olfato , Endoscopia , Transtornos do Olfato , Corticosteroides , Anosmia
19.
Eur Rev Med Pharmacol Sci ; 25(23): 7380-7389, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34919239

RESUMO

OBJECTIVE: This study analyzed the effects of high intensity interval training (HIIT) combined with plyometric exercise on the physical fitness of junior male handball players. PATIENTS AND METHODS: Subjects (age ~17 years) were randomly divided between experimental (n=17) and control (n=15) groups. During the 8-week intervention, the experimental group replaced a part of their regular regimen by HIIT, combined with plyometric exercise. Assessments in both groups before and after the intervention included: squat jump (SJ), countermovement jump (CMJ), sprint performance (5 m, 10 m, 20 m and 30 m), change of direction tests (Illinois modified test [Illinois-MT] and T-half test), 20-m shuttle run, and repeated sprint T-test. RESULTS: The two-way analyses of variance revealed significant group-time interactions (all p<0.05), favoring the intervention group in 5 m, 10 m, 20 m and 30 m sprint (d=0.33, 8.3%; d=0.52, 7.6%; d=0.57, 6.8%; and d=0.58, 8.8%, respectively), T-half (d=0.25, 5.1%), Illinois-MT (d=0.47, 4.2%), SJ and CMJ (d=0.34-0.39, 34-4-34.9%), repeated sprint T-test best time, mean time and total time (d=0.83, 6.9%; d=0.62, 7.4%; and d=0.61, 7.2%, respectively), 20 meter shuttle run test aerobic maximum speed and predicted maximal oxygen intake (d=0.36, 7.5%; d=0.19, 9.4%, respectively). CONCLUSIONS: HIIT combined with plyometrics can aid in the development of physical fitness abilities, which are extremely important to junior male handball players.


Assuntos
Desempenho Atlético/fisiologia , Treinamento Intervalado de Alta Intensidade/métodos , Aptidão Física/fisiologia , Exercício Pliométrico/métodos , Adolescente , Humanos , Masculino , Esportes/fisiologia , Fatores de Tempo
20.
Neurology ; 97(24): e2392-e2403, 2021 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-34635556

RESUMO

BACKGROUND AND OBJECTIVE: Multiple studies highlighting the diagnostic utility of neurofascin-155 (NF155)-immunoglobulin G4 (IgG4) in chronic demyelinating inflammatory polyradiculoneuropathy (CIDP) have been published. However, few studies comprehensively address the long-term outcomes or clinical utility of NF155-immunoglobulin M (IgM) or NF155-immunoglobulin G (IgG) in the absence of NF155-IgG4. We evaluated phenotypic and histopathologic specificity and differences in outcomes between these NF155 antibody isotypes or IgG subclasses. We also compare NF155-IgG4-seropositive cases to other seropositive demyelinating neuropathies. METHODS: Neuropathy patient sera at Mayo Clinic were tested for NF155-IgG4, NF155-IgG, and NF155-IgM autoantibodies. Demographic and clinical data of all seropositive cases were reviewed. RESULTS: We identified 32 NF155 cases (25 NF155-IgG-positive [20 NF155-IgG4-positive], 7 NF155-IgM-seropositive). NF155-IgG4-seropositive patients clinically presented with distal more than proximal muscle weakness, positive sensory symptoms (prickling, asymmetric paresthesia, neuropathic pain), and gait ataxia. Cranial nerve involvement (11/20 [55%]) and papilledema (4/12 [33%]) occurred in many. Electrodiagnostic testing (EDX) demonstrated demyelinating polyradiculoneuropathy (19/20 [95%]). Autonomic involvement occurred in 45% (n = 9, median composite autonomic scoring scale score 3.5, range 1-7). Nerve biopsies from the NF155-IgG4 patients (n = 11) demonstrated grouped segmental demyelination (50%), myelin reduplication (45%), and paranodal swellings (50%). Most patients needed second- and third-line immunosuppression but had favorable long-term outcomes (n = 18). Among 14 patients with serial EDX over 2 years, all except one demonstrated improvement after treatment. NF155-IgG-positive, NF155-IgG4-negative (NF155-IgG-positive) and NF155-IgM-positive patients were phenotypically different from NF155-IgG4-seropositive patients. Sensory ataxia, neuropathic pain, cerebellar dysfunction, and root/plexus MRI abnormalities were significantly more common in NF155-IgG4-positive compared to myelin-associated glycoprotein (MAG)-IgM neuropathy. Chronic immune sensory polyradiculopathy (CISP)/CISP-plus phenotype was more common among contactin-1 neuropathies compared to NF155-IgG4-positive cases. NF155-IgG4-positive cases responded favorably to immunotherapy compared to MAG-IgM-seropositive cases with distal acquired demyelinating symmetric neuropathy (p < 0.001) and had better long-term clinical outcomes compared to contactin-1 IgG (p = 0.04). DISCUSSION: We report long-term follow-up and clinical outcome of NF155-IgG4 cases. NF155-IgG4 but not IgM or IgG cases have unique clinical-electrodiagnostic signature. We demonstrate NF155-IgG4-positive patients, unlike classical CIDP with neuropathic pain and dysautonomia common at presentation. Long-term outcomes were favorable. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that NF155-IgG4-seropositive patients, compared to patients with typical CIDP, present with distal more than proximal muscle weakness, positive sensory symptoms, and gait ataxia.


Assuntos
Fatores de Crescimento Neural , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Autoanticorpos , Moléculas de Adesão Celular , Contactina 1 , Humanos , Imunoglobulina M , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico
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