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1.
Int J Pediatr Otorhinolaryngol ; 124: 200-202, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31212167

RESUMO

Peritonsillar abscess is extremely rare in infants and is potentially life-threatening. We report the case of a 3 month old infant with a background of congenital bone marrow failure who presented with sepsis and desaturation requiring intubation and PICU care. Ultrasound and CT scan revealed an inflammatory mass. Examination in theatre revealed a self-draining quinsy. Following formal drainage in theatre, the child improved and was extubated uneventfully 1 day later. Prompt surgical and medical management as well as the presence of a well-coordinated multidisciplinary team are crucial in ensuring the adequate management of complex paediatric patients.


Assuntos
Anemia de Fanconi/complicações , Abscesso Peritonsilar/etiologia , Feminino , Humanos , Lactente , Abscesso Peritonsilar/diagnóstico , Abscesso Peritonsilar/terapia , Tomografia Computadorizada por Raios X
2.
Dermatol Online J ; 25(1)2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30710899

RESUMO

A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction. Following surgery, an ulceration with violaceous borders and a yellow fibrinous base unresponsive to broad-spectrum antibiotics developed at the harvest site. The wound was expanding and not responsive to systemic broad-spectrum antibiotics. Biopsy revealed a dense dermal infiltrate of neutrophils with negative tissue cultures consistent with pyoderma gangrenosum (PG). He was treated with systemic, intralesional, and topical steroids, as well as doxycycline. Three weeks after the diagnosis of PG, he was found to have persistent anemia and leukopenia. Bone marrow aspiration analysis was consistent with hypocellular myelodysplastic syndrome and genetic testing was consistent with Fanconi anemia. There is a well-known association of PG with hematological disorders. Fanconi anemia is a rare genetic hematologic disorder with congenital defects leading to bone marrow failure and malignancy in long-standing disease. In our patient, we consider his development of PG a paraneoplastic sign associated with the onset of his hypocellular myelodysplastic syndrome.


Assuntos
Anemia de Fanconi/diagnóstico , Síndromes Mielodisplásicas/patologia , Síndromes Paraneoplásicas/patologia , Complicações Pós-Operatórias/patologia , Pioderma Gangrenoso/patologia , Corticosteroides/uso terapêutico , Adulto , Cartilagem/transplante , Anormalidades Congênitas/cirurgia , Microtia Congênita/complicações , Orelha/anormalidades , Orelha/cirurgia , Anemia de Fanconi/complicações , Humanos , Masculino , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Neutrófilos/patologia , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/etiologia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Pioderma Gangrenoso/diagnóstico , Pioderma Gangrenoso/tratamento farmacológico , Pioderma Gangrenoso/etiologia , Costelas/cirurgia , Rim Único/complicações
3.
Trends Genet ; 35(3): 199-214, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30683429

RESUMO

Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. The past two decades have seen an explosion of data in the FA field, both in humans and other organisms, following the cloning of 22 FA genes. A common but notably understudied clinical feature of the disease is the reduced fertility of individuals with FA. This review focuses on the known causes of reduced fertility in FA, and integrates them with the emerging role of the FA pathway in double-strand break (DSB) repair at meiosis in a variety of organisms, as well as providing future directions for research and diagnostics.


Assuntos
/genética , Anemia de Fanconi/genética , Fertilidade/genética , /complicações , Quebras de DNA de Cadeia Dupla , Reparo do DNA/genética , Anemia de Fanconi/complicações , Anemia de Fanconi/patologia , Humanos , Meiose/genética
4.
J Pediatr Hematol Oncol ; 41(3): 229-232, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-29668547

RESUMO

Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow. We report a case of FA where eltrombopag in conjunction with oxymetholone induced trilineage hematopoiesis and eliminated transfusion requirement before transplant, thereby enhancing favorable outcome after hematopoietic stem cell transplant.


Assuntos
Benzoatos/farmacologia , Anemia de Fanconi/terapia , Hematopoese/efeitos dos fármacos , Transplante de Células-Tronco Hematopoéticas , Hidrazinas/farmacologia , Pirazóis/farmacologia , Quimioterapia Combinada , Anemia de Fanconi/complicações , Humanos , Oximetolona/uso terapêutico , Pancitopenia/etiologia
5.
Intern Med ; 58(4): 529-533, 2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30333403

RESUMO

Fanconi anemia (FA) is a disorder of chromosomal fragility characterized by progression to aplastic anemia, myelodysplastic syndrome, and leukemia. FA patients are also predisposed to solid cancers. A case of FA in an adult patient who developed tongue and superficial esophageal cancers following hematopoietic stem cell transplantation is reported. This case was considered significant because it is the first reported case of superficial esophageal cancer in an FA patient that was treated successfully by endoscopic submucosal resection.


Assuntos
Ressecção Endoscópica de Mucosa/métodos , Neoplasias Esofágicas/etiologia , Neoplasias Esofágicas/terapia , Anemia de Fanconi/complicações , Anemia de Fanconi/terapia , Transplante de Células-Tronco Hematopoéticas/métodos , Adulto , Grupo com Ancestrais do Continente Asiático , Humanos , Masculino
7.
Biol Blood Marrow Transplant ; 24(11): 2245-2249, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30454873

RESUMO

Ataxia-telangiectasia (A-T) syndrome is an autosomal recessive chromosomal breakage syndrome caused by mutation of the ataxia-telangiectasia mutated gene manifested by progressive neurodegeneration, telangiectasias of sclera and skin, immune deficiency with sinopulmonary infections, and increased incidence of lymphoid malignancies and solid tumors. Three children with A-T underwent allogeneic stem cell transplantation (SCT) using protocols for Fanconi anemia. All 3 patients were engrafted with a mixed donor-recipient chimerism, but the full donor engraftment was observed in the T lymphocyte compartment. Immunologic recovery resulted in T cell production and lack of symptomatic infections. Regular intravenous immunoglobulin supplementation was needed until IgG production recovered, which depended on pretransplant serotherapy. During the observation period patients did not require hospital admission, and none of the transplanted patients developed sinopulmonary infections. Neurologic functions in reported patients were impaired and slowly deteriorated after transplantation, but no immediate toxicities were observed. The following hallmark features of A-T were present after SCT: neurologic symptoms, growth failure, telangiectasia formation, or increased serum alpha fetoprotein. SCT can help control immune deficiency constituting 1 of the features of A-T, and elimination of autologous hematopoiesis reduces the risk of lymphoid malignancies. Resolving crucial problems with qualification for SCT depends on balancing the risk and benefits of transplant therapy.


Assuntos
Ataxia Telangiectasia/terapia , Anemia de Fanconi/complicações , Transplante de Células-Tronco Hematopoéticas/métodos , Linfócitos T/imunologia , Condicionamento Pré-Transplante/métodos , Ataxia Telangiectasia/patologia , Quimerismo , Feminino , Humanos , Masculino
10.
Pediatr Blood Cancer ; 65(12): e27371, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30070008

RESUMO

Hematopoietic cell transplantation (HCT) remains until now the only curative modality for hematological manifestations in patients with Fanconi anemia (FA). The doses of alkylating agents used in the conditioning of this patient population before HCT are usually significantly decreased due to the genomic instability of the FA cells. FA patients with renal impairment represent a dilemma because of the need to further modify the conditioning regimen according to the degree of renal impairment to avoid additional toxicity. At our institution, we successfully transplanted three FA patients using an ultra-modified regimen.


Assuntos
Ciclofosfamida/administração & dosagem , Anemia de Fanconi/terapia , Transplante de Células-Tronco Hematopoéticas , Nefropatias/terapia , Condicionamento Pré-Transplante , Vidarabina/análogos & derivados , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Feminino , Humanos , Nefropatias/complicações , Nefropatias/diagnóstico , Masculino , Vidarabina/administração & dosagem
11.
Med Hypotheses ; 119: 29-31, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30122487

RESUMO

Currently one of the greater challenges is the diagnosis and treatment of cancer. Many studies address the genetic and metabolic aspects to support in early diagnosis and increase the survival of individuals at high risk. Individuals with Fanconi anemia can be included in this high risk group because they have a predisposition to develop head and neck cancer. The use of salivary enzymes as biomarkers to detect the changes in oral tissue at the initial phase seems viable, because saliva is easy to obtain, it moisture oral mucosa and cells metabolic compounds can be found on it. Due to the metabolic characteristics of the cancer cell, an increase in Lactate Dehydrogenase (LDH) may indicate a carcinogenesis process. The hypothesis of this study is to use of salivary LDH as a tool in the early diagnosis of oral cancer on a high risk group such as Fanconi anemia's patients.


Assuntos
Anemia de Fanconi/diagnóstico , Anemia de Fanconi/enzimologia , L-Lactato Desidrogenase/análise , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/enzimologia , Saliva/enzimologia , Biomarcadores Tumorais/metabolismo , Carcinogênese/metabolismo , Progressão da Doença , Detecção Precoce de Câncer , Anemia de Fanconi/complicações , Neoplasias de Cabeça e Pescoço , Humanos , Neoplasias Bucais/complicações , Oxigênio/metabolismo , Fosforilação
12.
Prog. obstet. ginecol. (Ed. impr.) ; 61(4): 387-391, jul.-ago. 2018. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-174983

RESUMO

We present the gynecological and clinical management of women diagnosed with Fanconi anemia at our hospital, which is a reference center in Spain. Fanconi anemia is considered a rare disease. It is an autosomal recessive chromosomal instability syndrome in which more than 20 genes are affected. The disease involves progressive bone marrow failure, various congenital abnormalities, and an increased predisposition to cancer; hence the importance of a gynecological management protocol


Presentamos el manejo clínico ginecológico que llevamos a cabo en nuestro hospital de las pacientes mujeres diagnosticadas con anemia de Fanconi; siendo nuestro hospital uno de los hospitales de referencia en nuestro país. La anemia de Fanconi, considerada como una de las enfermedades raras, es una enfermedad autosómica recesiva, con inestabilidad cromosómica. En la actualidad se han descrito más de 20 genes afectados. Clínicamente hay una insuficiencia medular progresiva, diversas anomalías congénitas e incremento a la predisposición a producir cáncer; de allí la importancia de protocolizar la actuación de manejo de estas pacientes desde el punto de vista ginecológico


Assuntos
Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Neoplasias dos Genitais Femininos/epidemiologia , Anemia de Fanconi/complicações , Aconselhamento Genético , Seguimentos , Detecção Precoce de Câncer/métodos , Predisposição Genética para Doença , Doenças Raras/genética , Vacinas contra Papillomavirus/administração & dosagem , Vacinas Anticâncer/administração & dosagem
13.
Artigo em Inglês | MEDLINE | ID: mdl-29907598

RESUMO

Tumors with anaplastic lymphoma kinase (ALK) fusion rearrangements, including non-small-cell lung cancer and anaplastic large cell lymphoma, are highly sensitive to ALK tyrosine kinase inhibitors (TKIs), underscoring the notion that such cancers are addicted to ALK activity. Although mutations in ALK are heavily implicated in childhood neuroblastoma, response to the ALK TKI crizotinib has been disappointing. Embryonal tumors in patients with DNA repair defects such as Fanconi anemia (FA) often have a poor prognosis, because of lack of therapeutic options. Here we report a child with underlying FA and ALK mutant high-risk neuroblastoma responding strongly to precision therapy with the ALK TKI ceritinib. Conventional chemotherapy treatment caused severe, life-threatening toxicity. Genomic analysis of the initial biopsy identified germline FANCA mutations as well as a novel ALK-I1171T variant. ALK-I1171T generates a potent gain-of-function mutant, as measured in PC12 cell neurite outgrowth and NIH3T3 transformation. Pharmacological inhibition profiling of ALK-I1171T in response to various ALK TKIs identified an 11-fold improved inhibition of ALK-I1171T with ceritinib when compared with crizotinib. Immunoaffinity-coupled LC-MS/MS phosphoproteomics analysis indicated a decrease in ALK signaling in response to ceritinib. Ceritinib was therefore selected for treatment in this child. Monotherapy with ceritinib was well tolerated and resulted in normalized catecholamine markers and tumor shrinkage. After 7.5 mo treatment, the residual primary tumor shrunk, was surgically removed, and exhibited hallmarks of differentiation together with reduced Ki67 levels. Clinical follow-up after 21 mo treatment revealed complete clinical remission including all metastatic sites. Therefore, ceritinib presents a viable therapeutic option for ALK-positive neuroblastoma.


Assuntos
Quinase do Linfoma Anaplásico/antagonistas & inibidores , Neoplasias Encefálicas/tratamento farmacológico , Neuroblastoma/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , Sulfonas/uso terapêutico , Células 3T3 , Adolescente , Quinase do Linfoma Anaplásico/genética , Animais , Neoplasias Encefálicas/genética , Anemia de Fanconi/complicações , Anemia de Fanconi/genética , Proteína do Grupo de Complementação A da Anemia de Fanconi/genética , Humanos , Masculino , Camundongos , Mutação de Sentido Incorreto , Neuroblastoma/complicações , Neuroblastoma/genética , Células PC12 , Ratos
14.
Mol Med Rep ; 18(2): 2485-2491, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29901137

RESUMO

Diabetes mellitus (DM) and other glucose metabolism abnormalities are commonly observed in individuals with Fanconi anemia (FA). FA causes an impaired response to DNA damage due to genetic defects in a cluster of genes encoded proteins involved in DNA repair. However, the mechanism by which FA is associated with DM has not been clearly elucidated. Fanconi anemia complementation group C (FANCC) is a component of FA nuclear clusters. Evidence suggests that cytoplasmic FANCC has a role in protection against oxidative stress­induced apoptosis. As oxidative stress­mediated ß­cell dysfunction is one of the contributors to DM pathogenesis, the present study aimed to investigate the role of FANCC in pancreatic ß­cell response to oxidative stress. Small interfering RNA­mediated FANCC suppression caused a loss of protection against oxidative stress­induced apoptosis, and that overexpression of FANCC reduced this effect in the human 1.1B4 ß­cell line. These findings were confirmed by Annexin V­FITC/PI staining, caspase 3/7 activity assay, and expression levels of anti­apoptotic and pro­apoptotic genes. Insulin and glucokinase mRNA expression were also decreased in FANCC­depleted 1.1B4 cells. The present study demonstrated the role of FANCC in protection against oxidative stress­induced ß­cell apoptosis and established another mechanism that associates FANCC deficiency with ß­cell dysfunction. The finding that FANCC overexpression reduced ß­cell apoptosis advances the potential for an alternative approach to the treatment of DM caused by FANCC defects.


Assuntos
Apoptose/genética , Diabetes Mellitus/genética , Proteína do Grupo de Complementação C da Anemia de Fanconi/genética , Anemia de Fanconi/genética , Linhagem Celular , Dano ao DNA/genética , Reparo do DNA/genética , Diabetes Mellitus/etiologia , Diabetes Mellitus/metabolismo , Anemia de Fanconi/complicações , Anemia de Fanconi/metabolismo , Regulação da Expressão Gênica/genética , Humanos , Insulina/metabolismo , Células Secretoras de Insulina/metabolismo , Células Secretoras de Insulina/patologia , Estresse Oxidativo/genética , RNA Interferente Pequeno/genética
15.
Pediatr Nephrol ; 33(9): 1547-1551, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29651604

RESUMO

BACKGROUND: Fanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse. METHODS: We reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA. RESULTS: Thirty patients including four sibling sets were reviewed. On imaging, 14 had evidence of anatomical abnormalities of the kidneys. Two cases with severe phenotype, including renal abnormalities, had chronic kidney disease (CKD) at diagnosis. Haematopoietic stem cell transplantation was complicated by significant acute kidney injury (AKI) in three cases. In three patients, there was CKD at long-term follow-up. All patients had normal blood pressure. CONCLUSIONS: Evaluation of renal anatomy with ultrasound imaging is important at diagnostic workup of FA. While CKD is uncommon at diagnosis, our data suggests that the incidence of CKD increases with age, in particular after haematopoietic stem cell transplantation. Monitoring of renal function is essential for management of FA. Based on these long-term clinical observations, we formulate some practical guidelines for assessment and management of renal abnormalities in FA.


Assuntos
Lesão Renal Aguda/terapia , Anemia de Fanconi/terapia , Rim/anormalidades , Assistência de Longa Duração/normas , Insuficiência Renal Crônica/terapia , Lesão Renal Aguda/diagnóstico , Lesão Renal Aguda/epidemiologia , Lesão Renal Aguda/etiologia , Criança , Pré-Escolar , Progressão da Doença , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Feminino , Seguimentos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Incidência , Lactente , Rim/diagnóstico por imagem , Assistência de Longa Duração/métodos , Masculino , Guias de Prática Clínica como Assunto , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/etiologia , Estudos Retrospectivos , Ultrassonografia
16.
Crit Rev Oncol Hematol ; 125: 35-40, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29650274

RESUMO

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by aplastic anemia, progressive pancytopenia, congenital anomalies, and increased risk of cancer development. After hematopoietic stem cell transplant (HSCT), patients have an estimated 500-fold increase in the risk of developing head and neck cancer compared to a non-affected, and the oral cavity is affected in one-third of cases. Thus, this study aimed to better understand the natural history of oral cavity cancer in patients affected by FA. After conducting a keyword search on MEDLINE, we found 121 cases of oral cavity cancer in patients who had been affected by FA. In conclusion, HSCT may increase the risks of oral cancer development, especially after 5 years after the transplant. In the normal population, the tongue is the most affected area. FA patients should be informed of the risks of oral malignant transformation and encouraged to be undergo medical surveillance.


Assuntos
Carcinoma de Células Escamosas/etiologia , Anemia de Fanconi/complicações , Neoplasias Bucais/etiologia , Carcinoma de Células Escamosas/terapia , Anemia de Fanconi/genética , Anemia de Fanconi/terapia , Neoplasias de Cabeça e Pescoço/etiologia , Neoplasias de Cabeça e Pescoço/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Neoplasias Bucais/terapia , Fatores de Risco
17.
Pediatr Transplant ; 22(5): e13199, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29676020

RESUMO

CNL is a rare myeloproliferative disorder frequently seen in older adults. A significant proportion of patients show progression to AML. Here, we report the case of a patient with FA who was monitored for leukopenia but who developed leukocytosis during the follow-up and was diagnosed with CNL probably after an acquired CSF3R mutation. Because the patient had FA, which could accelerate the progression to AML, an HSCT was performed, which resulted in cure. This patient (aged 12 years) is one of the youngest patients reported to develop CNL as well as the first FA patient with a diagnosis of CNL.


Assuntos
Anemia de Fanconi/complicações , Transplante de Células-Tronco Hematopoéticas , Leucemia Neutrofílica Crônica/terapia , Criança , Humanos , Leucemia Neutrofílica Crônica/complicações , Leucemia Neutrofílica Crônica/diagnóstico , Masculino
19.
Viruses ; 10(1)2018 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-29361695

RESUMO

Human papillomavirus (HPV) infections cause a significant proportion of cancers worldwide, predominantly squamous cell carcinomas (SCC) of the mucosas and skin. High-risk HPV types are associated with SCCs of the anogenital and oropharyngeal tract. HPV oncogene activities and the biology of SCCs have been intensely studied in laboratory models and humans. What remains largely unknown are host tissue and immune-related factors that determine an individual's susceptibility to infection and/or carcinogenesis. Such susceptibility factors could serve to identify those at greatest risk and spark individually tailored HPV and SCC prevention efforts. Fanconi anemia (FA) is an inherited DNA repair disorder that is in part characterized by extreme susceptibility to SCCs. An increased prevalence of HPV has been reported in affected individuals, and molecular and functional connections between FA, SCC, and HPV were established in laboratory models. However, the presence of HPV in some human FA tumors is controversial, and the extent of the etiological connections remains to be established. Herein, we discuss cellular, immunological, and phenotypic features of FA, placed into the context of HPV pathogenesis. The goal is to highlight this orphan disease as a unique model system to uncover host genetic and molecular HPV features, as well as SCC susceptibility factors.


Assuntos
Carcinoma de Células Escamosas/virologia , Anemia de Fanconi/virologia , Predisposição Genética para Doença , Infecções por Papillomavirus/virologia , Animais , Carcinogênese/genética , Carcinoma de Células Escamosas/genética , DNA Viral , Modelos Animais de Doenças , Anemia de Fanconi/complicações , Anemia de Fanconi/genética , Feminino , Humanos , Masculino , Camundongos , Boca/fisiopatologia , Boca/virologia , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/genética , Fatores de Risco
20.
Hematology ; 23(7): 405-412, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29307285

RESUMO

OBJECTIVES: Fanconi anaemia (FA) is a rare inherited bone marrow failure and autosomal recessive blood disorder. FA patients have a higher risk of cancer, including acute myeloid leukaemia and squamous cell carcinoma. Maximum, but not all, affected individuals have one or more somatic abnormalities, including skin, skeletal, genitourinary, gastrointestinal, cardiac and neurological anomalies, etc. Positive stress cytogenetics has immense implications for the treatment and management of FA. The aim of our study was to find out the incidence of FA in the population of phenotypically normal aplastic anaemia (AA) patients in West Bengal. METHODS: Ethical clearances were obtained from the corresponding institutional committees. A total of 117 AA cases was selected. Stress cytogenetics was performed from peripheral venous blood (PVB) samples of 63 AA patients (age ≤ 50 years) and 63 age- and sex-matched healthy individual (control) using Mitomycin C (MMC). RESULTS: Out of 63 AA patients, 6 (9.25%) cases showed positive stress cytogenetics suggestive of FA, which is statistically significant (p-value - 0.000532), analysed by chi-square test. DISCUSSION: A considerable percentage of patients showing sensitivity towards MMC, even if they are phenotypically normal and did not have any distinguishable features which are generally found in FA. CONCLUSION: This observation may indicate that stress cytogenetics analysis of phenotypically normal AA patients (≤50 years) is essential for the improvement of the treatment procedure.


Assuntos
Anemia Aplástica/complicações , Anemia Aplástica/epidemiologia , Anemia de Fanconi/complicações , Anemia de Fanconi/epidemiologia , Anemia Aplástica/diagnóstico , Biomarcadores , Criança , Pré-Escolar , Aberrações Cromossômicas/efeitos dos fármacos , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Humanos , Incidência , Masculino , Mitomicina/farmacologia , Fenótipo , Vigilância da População , Avaliação de Sintomas
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