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Deferasirox , Quelantes de Ferro , Sistema de Registros , Talassemia , Humanos , Deferasirox/uso terapêutico , Deferasirox/administração & dosagem , Talassemia/terapia , Masculino , Feminino , Quelantes de Ferro/uso terapêutico , Quelantes de Ferro/administração & dosagem , Adolescente , França/epidemiologia , Criança , Transfusão de Sangue , Puberdade/efeitos dos fármacos , Administração Oral , Triazóis/administração & dosagem , Triazóis/uso terapêutico , Terapia por QuelaçãoRESUMO
ABSTRACT: Older patients with classical Hodgkin lymphoma (cHL) require more effective and less toxic therapies than younger patients. In this multicenter, prospective, phase 2 study, we investigated a new firstline therapy regimen comprising 6 cycles of prednisone (40 mg/m2, days 1-5), vinblastine (6 mg/m2, day 1), doxorubicin (40 mg/m2, day 1), and bendamustine (120 mg/m2, day 1) (PVAB regimen) every 21 days for patients with newly diagnosed cHL aged ≥61 years with an advanced Ann Arbor stage. A Mini Nutritional Assessment score ≥17 was the cutoff value for patients aged ≥70 years. The primary end point was the complete metabolic response (CMR) rate after 6 cycles. The median age of the 89 included patients was 68 years (range, 61-88 years), with 35 patients (39%) aged ≥70 years. Seventy-eight patients (88%) completed the 6 cycles. The toxicity rate was acceptable, with a 20% rate of related serious adverse events. CMR was achieved by 69 patients (77.5%; 95% confidence interval [CI], 67-86). After a median follow-up of 42 months, 31 patients progressed or relapsed (35%), and 24 died (27%) from HL (n = 11), toxicity during treatment (n = 4), secondary cancers (n = 6), or other causes (n = 3). The 4-year progression-free survival (PFS) and overall survival rates were 50% and 69%, respectively. Multivariate analysis showed that liver involvement (P = .001), lymphopenia (P = .001), CRP (P = .0005), and comedications (P = .003) were independently associated with PFS. The PVAB regimen yielded a high CMR rate with acceptable toxicity. Over long-term follow-up, survival end points were influenced by unrelated lymphoma events. This trial was registered at www.clinicaltrials.gov as #NCT02414568 and at EudraCT as 2014-001002-17.
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Doença de Hodgkin , Humanos , Idoso , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Doença de Hodgkin/patologia , Vimblastina/efeitos adversos , Prednisona/efeitos adversos , Cloridrato de Bendamustina/efeitos adversos , Estudos Prospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Doxorrubicina/efeitos adversos , Ciclofosfamida , VincristinaRESUMO
PURPOSE: The prognosis of patients with early-stage unfavorable Hodgkin lymphoma remains unsatisfactory. We assessed the efficacy and safety of brentuximab vedotin plus doxorubicin, vinblastine, and dacarbazine (BV-AVD) in previously untreated, early-stage unfavorable Hodgkin lymphoma (ClinicalTrials.gov identifier: NCT02292979). METHODS: BREACH is a multicenter, randomized, open-label, phase II trial. Eligible patients were age 18-60 years with ≥ 1 unfavorable EORTC/LYSA criterion. Patients were randomly assigned (2:1) to four cycles of BV-AVD or standard doxorubicin, bleomycin, vincristine, and dacarbazine (ABVD), followed by 30 Gy involved node radiotherapy. The primary end point was the positron emission tomography (PET) response rate after two cycles by expert independent review using the Deauville score. The study was designed to test if the PET-negative rate after two cycles of BV-AVD was superior to 75%. We hypothesized a 10% increase in the PET-negative rate after two cycles of BV-AVD. RESULTS: Between March 2015 and October 2016, 170 patients were enrolled. After two cycles, the primary end point of the study was met: 93 (82.3%; 90% CI, 75.3 to 88.0) of 113 patients in the BV-AVD arm were PET-negative (Deauville score 1-3) compared with 43 (75.4%; 90% CI, 64.3% to 84.5%) of 57 in the ABVD arm. The 2-year progression-free survival (PFS) was 97.3% (95% CI, 91.9 to 99.1) and 92.6% (95% CI, 81.4% to 97.2%) in the BV-AVD and ABVD arms, respectively. High total metabolic tumor volume was associated with a significantly shorter PFS (hazard ratio, 17.9; 95% CI, 2.2 to 145.5; P < .001). For patients with high total metabolic tumor volume, the 2-year PFS rate was 90.9% (95% CI, 74.4 to 97.0) and 70.7% (95% CI, 39.4% to 87.9%) in the BV-AVD and ABVD arms, respectively. CONCLUSION: BV-AVD demonstrated an improvement in the PET-negative rate compared with ABVD after two cycles.
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Doença de Hodgkin , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Doença de Hodgkin/diagnóstico por imagem , Doença de Hodgkin/tratamento farmacológico , Doença de Hodgkin/patologia , Brentuximab Vedotin , Bleomicina , Vimblastina , Doxorrubicina , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Dacarbazina , Estadiamento de Neoplasias , Resultado do TratamentoRESUMO
BACKGROUND: With the advent of biotherapies, endotyping of chronic rhinosinusitis with nasal polyps (CRSwNP) is becoming more and more important to optimize therapeutic management. While the majority of CRSwNPs in the United States, Europe, and Japan exhibit type 2 eosinophil-dominant inflammation response, other parts of Asia display mixed patterns including neutrophil-dominant inflammation. Until now, no study has focused on the proportion of inflammation patterns in Morocco or anywhere on the African continent. We aim to fill this gap by studying tissue inflammatory response in our operated patients. MATERIAL AND METHODS: After searching the database of the pathology department, we retrieved from the archives the stained pathology slides of all our patients who underwent surgery for CRSwNP over 5 years from 2017 to 2021. We counted then the number of eosinophils in the lamina propria at high-power magnification to determine the predominant inflammatory pattern. RESULTS: A total of 35 reports were collected. We found that eosinophilic inflammation was predominant, accounting for 97% of the cases. CONCLUSIONS: The CRSwNP endotype in our region would mainly be type 2. However, our results must be confirmed by multicenter studies involving a large number of patients.
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Pólipos Nasais , Humanos , Pólipos Nasais/complicaçõesRESUMO
OBJECTIVES: Nodules of the thyroid gland are common but rarely malignant. Their management can range from simple monitoring to surgery. The use of ultrasound and fine needle aspiration can reduce the rate of unnecessary surgeries. However, there is a risk of false positives and false negatives of malignancy that only pathology can avoid. The objective of this study is to assess the impact of ultrasound classification on the rate of surgical indications. MATERIAL AND METHODS: Between 2013 and 2017, the ultrasound classification was gradually adopted in our daily practice to become now routine. During this period, we conducted a retrospective study of all the patients who presented to our department for one or more thyroid nodules. RESULTS: A total of 577 patients were included in the study. We compared two groups, a first where the ultrasound classification was used and a second where this classification was not used. In the end, we found that this classification significantly reduced the surgical indication by 19% while increasing the malignancy detection rate in operated patients by 21%. CONCLUSIONS: The use of ultrasound classification reduces the indications for surgery while increasing the rate of malignancy in operated patients. The generalization of the use of the ultrasound classification score is strongly recommended in daily practice.
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Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Humanos , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Biópsia por Agulha FinaRESUMO
BACKGROUND: Following acute traumatic brain injury, cerebral salt wasting (CSW) syndrome is considered as an important cause of hyponatremia apart from syndrome of inappropriate antidiuretic hormone. Differentiation between the two syndromes is crucial for the initiation of an adequate treatment. Case Presentation. We report a 15-year-old female adolescent, admitted to intensive care for acute severe traumatic brain injury. During his hospitalization, she developed a hyponatremia with an increase of urine output and hypovolemia. So, the most probable diagnosis was CSW. Initially, she was treated by hypertonic saline and volume expansion. However, his sodium level continued to fall despite infusion of hypertonic saline. That is why fludrocortisone was introduced initially at 50 µg/day then increased to 150 µg/day. Fludrocortisone was continued for the next months. Serum sodium level was 138 mmol/L after one month of treatment. CONCLUSION: Hyponatremia may occur after severe traumatic brain injury that is why an adequate treatment initiated on time is necessary in order to reduce morbidity and mortality.
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PURPOSE: The prospective, randomized AHL2011 trial demonstrated that the use of the doxorubicin, bleomycin, vinblastine, and dacarbazine regimen (ABVD) after two cycles of bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPPescalated) in early responders on the basis of a positron emission tomography (PET)-driven strategy was safe and minimized toxicity compared with standard 6 BEACOPPescalated cycles. This substudy investigated the benefit of this strategy in gonadal function and fertility in patients under 45 years old. METHODS: Ovarian function was assessed by serum measurement of follicle-stimulating hormone (FSH), estradiol, and anti-müllerian hormone in women, and semen analysis, FSH, and testosterone levels were used to evaluate testicular function in men at baseline, end of treatment, and during 5 years of follow-up. RESULTS: A total of 145 women and 424 men, enrolled between May 19, 2011, and April 29, 2014, were included. The risk of premature ovarian insufficiency (FSH > 24 IU/L) and of having a low ovarian reserve (anti-müllerian hormone < 0.5 ng/mL) was reduced after treatment in the PET-driven group (odds ratio [OR], 0.20; 95% CI, 0.08 to 0.50; P = .001 and OR, 0.15; 95% CI, 0.04 to 0.56, P = .005, respectively). Both parameters were correlated with age and dose of alkylating agents. However, no significant differences were observed in terms of pregnancy rates. Men in the PET-driven group had a higher recovery rate of sperm parameters after treatment compared with the standard BEACOPPescalated group, as well as a lower risk of severe testicular damage (OR, 0.26; 95% CI, 0.13 to 0.5; P < .0001) and a higher likelihood of achieving pregnancy (OR, 3.7; 95% CI, 1.4 to 9.3; P = .004). CONCLUSION: Although both treatments affected ovarian reserve and spermatogenesis, the PET-driven strategy decreased the risk of gonadal dysfunction and infertility in advanced Hodgkin lymphoma.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Doença de Hodgkin/tratamento farmacológico , Ovário/fisiopatologia , Tomografia por Emissão de Pósitrons/métodos , Testículo/fisiopatologia , Adulto , Hormônio Antimülleriano/sangue , Feminino , Doença de Hodgkin/diagnóstico por imagem , Doença de Hodgkin/fisiopatologia , Humanos , Masculino , Estudos Prospectivos , Recuperação de Função FisiológicaRESUMO
In total, 279 patients with hairy-cell leukemia (HCL) were analyzed, with a median follow-up of 10 years. Data were collected up to June 2018. We analyzed responses to treatment, relapses, survival, and the occurrence of second malignancies during follow-up. The median age was 59 years. In total, 208 patients (75%) were treated with purine analogs (PNAs), either cladribine (159) or pentosatin (49), as the first-line therapy. After a median follow-up of 127 months, the median overall survival was 27 years, and the median relapse-free survival (RFS) was 11 years. The cumulative 10-year relapse incidence was 39%. In patients receiving second-line therapy, the median RFS was 7 years. For the second-line therapy, using the same or another PNA was equivalent. We identified 68 second malignancies in 59 patients: 49 solid cancers and 19 hematological malignancies. The 10-year cumulative incidences of cancers, solid tumors, and hematological malignancies were 15%, 11%, and 5.0%, respectively, and the standardized incidence ratios were 2.22, 1.81, and 6.67, respectively. In multivariate analysis, PNA was not a risk factor for second malignancies. HCL patients have a good long-term prognosis. PNAs are the first-line treatment. HCL patients require long-term follow-up because of their relatively increased risk of second malignancies.
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Antineoplásicos/uso terapêutico , Cladribina/uso terapêutico , Leucemia de Células Pilosas/tratamento farmacológico , Pentostatina/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Leucemia de Células Pilosas/epidemiologia , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
Background CT and fluorine 18 (18F) fluorodeoxyglucose (FDG) PET/CT performances following immune therapy are not well known in patients with relapsed or refractory Hodgkin lymphoma (RRHL). Purpose To compare CT and PET/CT for prognostic value of early response evaluation following nivolumab therapy. Materials and Methods This retrospective study included patients from 34 institutions who underwent early imaging response evaluation from July 2013 to April 2017. Three experienced readers classified imaging response by using Cheson et al and 2016 Lymphoma Response to Immunomodulatory Therapy Criteria as follows: complete (metabolic) response, partial (metabolic) response, stable disease or no metabolic response, or progressive (metabolic) disease. Primary CT and PET assessments were performed at a median of 2.0 months (interquartile range, 1.7-3.7 months) after nivolumab initiation. Kaplan-Meier analysis was used to determine the relationship of primary CT and PET assessment response categories to overall survival (OS). Agreements between primary and secondary imaging assessments were assessed by using κ analysis. Results A total of 45 patients (median age, 37 years; range, 18-77 years; 25 men) underwent a primary assessment using CT and PET/CT; 36 patients also underwent a subsequent assessment. Eleven patients (24%) died after a median follow-up of 21.2 months. CT and PET response categories were associated with OS (P = .03 for primary CT assessment; P = .02 for primary PET assessment). There was no pseudoprogression at primary CT and PET assessments. At the primary assessment, response categories by using CT were reclassified by using PET in 44% (20 of 45) of patients. Among these, 55% (11 of 20) were reclassified to complete metabolic response (complete metabolic response rate: 29% [13 of 45 patients] vs complete response rate: 4% [two of 45 patients]), with a 2-year OS probability of 100%. At the secondary assessment, complete response rate using CT increased to 17% (six of 36 patients), hence a better agreement with PET (κ = 0.78; P < .001). Conclusion Early CT and PET/CT at a median of 2 months after initiation of nivolumab predicted overall survival in relapsed or refractory Hodgkin lymphoma. Early PET detected additional patients with complete metabolic response. © RSNA, 2020 Online supplemental material is available for this article. See also the editorial by Scott and Wang in this issue.
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Fluordesoxiglucose F18 , Doença de Hodgkin/diagnóstico por imagem , Doença de Hodgkin/tratamento farmacológico , Recidiva Local de Neoplasia , Nivolumabe/uso terapêutico , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Feminino , Doença de Hodgkin/mortalidade , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/tratamento farmacológico , Estudos Retrospectivos , Sensibilidade e Especificidade , Resultado do Tratamento , Adulto JovemRESUMO
Monoclonal antibodies (mAbs) against programmed cell death 1 (PD-1), such as nivolumab and pembrolizumab, are associated with high response rates in patients with relapsed or refractory classic Hodgkin lymphoma (HL). To date, no prognostic factor for overall survival (OS) has been established with these agents in HL. We examined whether the first early response assessment evaluated using 18F-FDG PET/CT may be associated with OS in this setting. Methods: This retrospective study included 45 patients from 34 institutions. In a masked, centralized review, 3 independent radiologists classified PET/CT scans obtained at a median of 2.0 mo (interquartile range, 1.7-3.7 mo) after nivolumab initiation using existing criteria (i.e., 2014 Lugano classification and 2016 LYRIC). Patients were classified according to 4 possible response categories: complete metabolic response (CMR), partial metabolic response (PMR), no metabolic response (NMR), or progressive metabolic disease (PMD). Because the OS of patients with NMR and PMR was similar, they were grouped together. OS was estimated using the Kaplan-Meier method and compared between groups using log-rank testing. Results: Eleven patients (24%) died after a median follow-up of 21.2 mo. The classification was identical between Lugano and LYRIC because all 16 progression events classified as indeterminate response per LYRIC were confirmed on subsequent evaluations. Both Lugano and LYRIC classified patients as CMR in 13 cases (29%), PMD in 16 (36%), NMR in 4 (9%), and PMR in 12 (27%). The 2-y OS probability was significantly different in patients with PMD (0.53; 95% confidence interval [95%CI], 0.32-0.87), NMR or PMR (0.80; 95%CI, 0.63-1.00), and CMR (1.00; 95%CI, 1.00-1.00) in the overall population (P = 0.02, 45 patients), as well as according to a landmark analysis at 3 mo (P = 0.05, 32 patients). Conclusion: In relapsed or refractory HL patients treated with anti-PD-1 mAbs, the first early PET/CT assessment using either Lugano or LYRIC predicted OS and allowed early risk stratification, suggesting that PET/CT might be used to develop risk-adapted strategies.
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Fluordesoxiglucose F18 , Doença de Hodgkin/diagnóstico por imagem , Doença de Hodgkin/tratamento farmacológico , Nivolumabe/farmacologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adolescente , Adulto , Idoso , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nivolumabe/uso terapêutico , Recidiva , Estudos Retrospectivos , Fatores de Tempo , Falha de Tratamento , Adulto JovemRESUMO
Myringoplasty is one of the most frequent interventions in otology. It aims to restore the eardrum in order to protect against extrinsic contamination by water and to improve hearing. Our study aimed to analyze the factors that may affect anatomical and functional results of myringoplasty or type I tympanoplasty. A retrospective study was performed of a series of 140 cases of myringoplasty over a 6-years period from 2010 to 2015. The approach was post-auricular in 69% of cases and all the patients underwent an underlay technique. Temporal fascia was used in 90.71% of the cases. After an average follow-up of 13 months, the anatomical and functional results were acceptable, with a tympanic closure rate of 88% and an average audiometric gain of 14.22 dB. Several factors affected our results, including the location of the perforation, the active or inactive status of the chronic otitis media, the condition of the opposite ear and the graft material. In light of our results and those of the literature, we believe that the middle ear should be dry at least two months prior to surgery, use of cartilaginous graft material and underlay technique should be preferred and special precautions should be taken in case of anterior or contralateral perforation.
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Miringoplastia/métodos , Otite Média/epidemiologia , Perfuração da Membrana Timpânica/cirurgia , Adolescente , Adulto , Idoso , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Timpanoplastia/métodos , Adulto JovemRESUMO
Even if tuberculosis is a major cause of morbidity and mortality, nasopharyngeal location is unusual and extremely rare. We report four new cases observed with short time interval suggesting a trend towards increased frequency. The diagnosis was confirmed by histological analysis after a biopsy. The evolution was favorable after anti tuberculosis chemotherapy. In the light of those observations and a review of the literature, we will discuss different characteristics of this disease and we will highlight the need of a systematic biopsy in order to confirm diagnosis and exclude undifferentiated carcinoma especially in endemic regions for both diseases.
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Doenças Nasofaríngeas/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Tuberculose/diagnóstico , Adolescente , Biópsia/métodos , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Carcinoma Nasofaríngeo/diagnóstico , Doenças Nasofaríngeas/microbiologia , Adulto JovemRESUMO
Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23·3%) and SLC25A38 (n = 8; 18·6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the 'anaemia, deafness and diabetes' triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited B-cell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines.
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5-Aminolevulinato Sintetase/genética , Anemia Sideroblástica/genética , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Anemia Sideroblástica/patologia , Criança , Estudos de Coortes , Europa (Continente) , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Humanos , Masculino , Mutação , Nucleotidiltransferases/genética , Estudos RetrospectivosRESUMO
Hyperthyroidism includes several diseases characterized by high level of circulating thyroid hormones. Thyroidectomy is one of the main treatment options. We conducted a retrospective study to evaluate the epidemiological, clinical, therapeutic, evolutionary features of patients who had undergone surgery for hyperthyroidism in the ENT Department at the Avicenne Military Hospital in Marrakech. Data were collected from medical records of 60 patients. There was a female predominance and the average age was 52 years. Clinical manifestations were dominated by thyrotoxicosis in all patients. Clinical examination allowed the identification of 47 cases of toxic or pretoxic multiheteronodular goitre (78.33% of cases), 5 cases of Graves disease (8.33% of cases) and 8 cases of toxic adenoma (13.33% of cases). All patients underwent medical preparation. Total thyroidectomy was performed in 50 patients (83.33%) and loboisthmectomy in 10 patients (16.33%). Postoperative complications were: transient laryngeal paralysis in one case (1.6%), transient hypoparathyroidism in nine cases (15%), definitive hypoparathyroidism in one case (1.6%) and compressive hematoma in one case (1.6% of cases). Surgical treatment of bleeding and adherent toxic goiters should be performed by an experienced surgeon who must remain vigilant to minimize morbidity mainly caused by laryngeal paralysis and hypoparathyroidism.
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Hipertireoidismo/cirurgia , Tireoidectomia/métodos , Tireotoxicose/cirurgia , Adolescente , Adulto , Idoso , Feminino , Bócio Nodular/epidemiologia , Bócio Nodular/cirurgia , Doença de Graves/epidemiologia , Doença de Graves/cirurgia , Humanos , Hipertireoidismo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/cirurgia , Tireotoxicose/epidemiologia , Adulto JovemAssuntos
Calreticulina/genética , Janus Quinase 2/genética , Mutação , Transtornos Mieloproliferativos/genética , Receptores de Trombopoetina/genética , Distribuição por Idade , Idoso , Progressão da Doença , Feminino , Seguimentos , Frequência do Gene , Humanos , Estimativa de Kaplan-Meier , Leucemia Mieloide Aguda/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/mortalidade , Transtornos Mieloproliferativos/fisiopatologia , Fenótipo , Prognóstico , Modelos de Riscos Proporcionais , Distribuição por Sexo , Estatísticas não Paramétricas , Trombose/epidemiologia , Trombose/etiologiaRESUMO
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia during the follow-up of six patients with an ALAS2 mutation and seven patients with an SLC25A38 mutation. We described in depth the clinical, biological and radiological phenotype of these patients at diagnosis and during follow-up and highlighted our results with a review of available evidence and data on the management strategies for congenital sideroblastic anemia. This report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications. The use of an international registry would certainly help defining recommendations for the management of these rare disorders to improve patient outcome.
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5-Aminolevulinato Sintetase/genética , Anemia Sideroblástica/congênito , Proteínas de Transporte da Membrana Mitocondrial/genética , Anemia Sideroblástica/genética , Criança , Humanos , Sobrecarga de Ferro , Fenótipo , Estudos RetrospectivosRESUMO
BACKGROUND: Paragangliomas of the head and neck are rare vascular tumors derived from the paraganglia tissues originating from the neural crest. They are usually benign and hypervascularized. Diagnosis is relatively easy in condition to consider it in evaluating every lateral neck mass. METHODS: We made a retrospective study of the records of 10 patients who presented with carotid body tumors at the Department of Vascular surgery of the Military Hospital Avicenne in Marrakech during the period between 2008 and 2013. Epidemiologic, etiologic, diagnostic, and therapeutic features were analyzed. RESULTS: The average age of our patients was 35.4 years (26-55 years), with a male predominance (sex ratio = 2.33). We noted 7 cases of isolated carotid locations and 3 cases of multiple locations. A slow-growing neck mass was the main clinical presentation. Other signs were pain, dysphonia, dizziness, headache, and tinnitus. Physical examination showed, in most cases, a neck nontender mass with side to side mobility. Imaging techniques included Doppler ultrasound, computed tomography (CT) scan, magnetic resonance imaging, and catheter arteriography. Urinary analysis for metanephrine was carried out in 1 case. The clinical presentation and imaging results strongly suggested the diagnosis of carotid paraganglioma in all cases. Treatment was surgical excision in all cases associated with a preoperative embolization in 1 case and a postoperative radiotherapy in 2 cases. Pathology confirmed the diagnosis, and a lymph node metastasis was suspected of malignity in 1 case. The evolution was favorable in all our patients. CONCLUSIONS: Carotid body tumor requires early diagnosis and an adequate multidisciplinary team. The diagnosis must be considered in the case of any pulsatile cervical mass. Surgery is the treatment of choice despite its risks especially in large tumors. The therapeutic indication should, ideally, be set in a multidisciplinary consultation.
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Tumor do Corpo Carotídeo , Adulto , Tumor do Corpo Carotídeo/diagnóstico por imagem , Tumor do Corpo Carotídeo/epidemiologia , Tumor do Corpo Carotídeo/secundário , Tumor do Corpo Carotídeo/terapia , Angiografia por Tomografia Computadorizada , Embolização Terapêutica , Feminino , Hospitais Militares , Humanos , Metástase Linfática , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Imagem Multimodal , Esvaziamento Cervical , Valor Preditivo dos Testes , Radioterapia Adjuvante , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Procedimentos Cirúrgicos VascularesRESUMO
The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS). In patients with sickle cell anemia (SCA), iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*<20 ms, in patients with thalassemia, SCA, or MDS. Patient inclusion criteria were an accurate record of erythrocyte concentrates (ECs) received, a transfusion history >8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15%) patients with thalassemia, none with SCA, and 4 (16%) with MDS. The liver iron content (LIC) ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29). Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001). Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001). Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation.
Assuntos
Anemia Falciforme/sangue , Coração/fisiopatologia , Sobrecarga de Ferro/sangue , Síndromes Mielodisplásicas/sangue , Talassemia/sangue , Adolescente , Adulto , Anemia Falciforme/fisiopatologia , Transfusão de Sangue , Criança , Feminino , Humanos , Ferro/sangue , Quelantes de Ferro , Sobrecarga de Ferro/fisiopatologia , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/fisiopatologia , Miocárdio/metabolismo , Talassemia/fisiopatologiaRESUMO
BACKGROUND: Spontaneous cerebrospinal fluid leaks are rare but may lead to confusion with other diseases in patients without history of trauma. We report a rare case unusual for two reasons. First, our patient was put under antiallergic medication for months before the diagnosis of spontaneous cerebrospinal fluid leak of the sphenoid sinus. Second, our patient was managed successfully by a ventriculoperitoneal shunt. CASE PRESENTATION: Our patient was a nonobese 49-year-old Arab man without history of trauma or surgery who presented with rhinorrhea. He was given allergic rhinitis medication for 4 months without improvement. After the onset of headache leading to the suspicion of paranasal sinusitis, a computed tomography scan discovered an osteodural defect in the sphenoid sinus roof and a magnetic resonance imaging scan showed an aspect of empty sella with an arachnoidocele. An eye fundus examination found papilledema suggesting the diagnosis of idiopathic intracranial hypertension. We performed a ventriculoperitoneal shunt without repair of the osteodural defect. Because of the favorable evolution, we decided to postpone surgery. CONCLUSIONS: Spontaneous cerebrospinal fluid leak should be considered even in nonobese male patients without history of trauma. Our observation adds to other case reports suggesting the decrease of cerebrospinal fluid pressure alone as an option for the treatment of spontaneous cerebrospinal fluid leaks. Additional studies are necessary to clarify the indications.