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1.
Ann Hematol ; 98(8): 1827-1834, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31190133

RESUMO

In this study, we aimed to investigate the pattern and association of genetic mutations occurring within the alpha hemoglobin-stabilizing protein (AHSP) gene among HbE beta thalassemia patients with varying phenotypic expressions. Fifty-four diagnosed cases of HbE beta thalassemia (transfusion dependent and independent) were included in the study. Among them, 38 patients with similar genotypes (IVS 1-5, alpha gene deletion and triplication, Xmn polymorphism) were selected for further analysis. AHSP gene sequencing was done for these 38 samples to study associated mutations in AHSP gene. HbE beta thalassemia patients with similar genotypes but different phenotypic expressions were found to have mutations in the AHSP gene. There were five mutations found most prevalent among the samples analyzed for AHSP gene sequencing. Among these, two mutations were from intron 1 region of AHSP and three mutations were found in exon 3. The most prevalent mutation was found at the Oct binding site at intron 1 of AHSP. The mutations in exon 3 were more prevalent among the TDT groups. A mutation in exon 3 changing the amino acid (33rd) from serine to phenylalanine was found to be associated with only TDT group. This study documents that among the HbE beta thalassemia patients with varying severity, an exon mutation in AHSP is significantly prevalent only among the TDT group. Further understanding of the mechanism will shed light upon the impact of AHSP in modifying the disease severity in thalassemia.


Assuntos
Proteínas Sanguíneas/genética , Deleção de Genes , Duplicação Gênica , Hemoglobina E/genética , Chaperonas Moleculares/genética , Talassemia beta/genética , Adolescente , Adulto , Sequência de Bases , Proteínas Sanguíneas/metabolismo , Transfusão de Sangue/estatística & dados numéricos , Criança , Pré-Escolar , Análise Mutacional de DNA , Eritrócitos/metabolismo , Eritrócitos/patologia , Éxons , Feminino , Expressão Gênica , Genótipo , Hemoglobina E/metabolismo , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Chaperonas Moleculares/metabolismo , Fenótipo , Estrutura Secundária de Proteína , Índice de Gravidade de Doença , Talassemia beta/metabolismo , Talassemia beta/patologia , Talassemia beta/terapia
2.
Ann Hematol ; 97(9): 1689-1694, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29740685

RESUMO

To study safety, efficacy (hemoglobin and hemoglobin F percentage increment in non-transfusion-dependent patients and decrease in transfusion frequency in transfusion-dependent patients), and determinants of response of decitabine in patients with HbE/ß-thalassemia. Thirty patients of HbE/ß-thalassemia (age > 18 years) were enrolled. Both transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) patients were included after obtaining informed consent. Participants received 0.2 mg/kg of 5-aza-2'-deoxycytidine (decitabine) subcutaneously on 2 consecutive days a week for at least 12 weeks. Complete hemogram was done every 2 weeks and HPLC at every 4-week interval, until 2 months after last dose of drug for response assessment. Various factors like XMN1 polymorphism, IVS 1-5, alpha deletion, alpha triplication, baseline hemoglobin F, and baseline total hemoglobin were evaluated as determinants of response. Mean therapy period was 20.32 weeks. For NTDT group, peak mean increment in hemoglobin was 0.938 g/dl (p value < .001) and hemoglobin F percentage was 9.62% (p value < .001). Transfusion requirement decreased to 0.25 units compared to 0.96 units per patient per month for TDT patients over a period of last 1 year. Common side effects were respiratory tract infection (grade I/II) in three patients, chest tightness in one patient (grade I), and gastric erosion (grade III) in one patient. Decitabine is safe and efficacious in HbE/ß-thalassemia.


Assuntos
Transfusão de Sangue , Decitabina/administração & dosagem , Hemoglobina Fetal/metabolismo , Hemoglobina E/metabolismo , Talassemia beta/terapia , Adolescente , Adulto , Decitabina/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Talassemia beta/sangue
3.
BMJ Case Rep ; 20172017 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-28765180

RESUMO

Lymphoma patient presenting with isolated third nerve palsy is relatively rare, and diagnosis of underlying disease may be challenging. Until this date, less than 20 cases have been described in the literature. This is the case of a 3-year-old boy who presented to neurologist with ptosis of left eye for 8 days. On examination, abdominal mass was detected, and the child was referred to paediatric surgery department. Laparotomy and excision of the mass was done. Histopathology and immunohistochemistry of the mass confirmed it to be a case of Burkitt's lymphoma. At this point, the patient was referred to haematology department. Contrast-enhanced CT brain showed infiltration around left cavernous sinus. Patient was treated with two cycles of R-CODOX-M/R-IVAC. Ptosis improved completely within few days of starting chemotherapy. Follow-up positron emission tomography CT scan done after the second cycle of chemotherapy revealed no metabolically active disease.


Assuntos
Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/cirurgia , Doenças do Nervo Oculomotor/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Burkitt/tratamento farmacológico , Pré-Escolar , Humanos , Masculino , Doenças do Nervo Oculomotor/tratamento farmacológico , Tomografia Computadorizada por Raios X , Resultado do Tratamento
4.
BMJ Case Rep ; 20172017 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-28566415

RESUMO

Renal failure in cases of acute lymphoblastic leukaemia during induction is mainly because of sepsis and tumour lysis syndrome. This 18-year-old man had sudden onset anuria with increase in creatine. At this time, patient did not have any overt signs or laboratory features suggestive of sepsis. Imaging studies documented bilateral hydronephrosis. Ureteroscopy was done, and it showed presence of soft tissue mass obstructing the ureter. On the the left side, it was noted in its middle part and on the right, at the ureteropelvic junction. The mass on the left side was removed under ureteroscopic guidance and was sent for histopathology examination. It was confirmed to be fungal ball on histopathology examination. Though rare, even in immunocompromised patients, bilateral fungal ball should be considered in differential diagnosis in cases of acute leukaemia with sudden onset anuria. We share our experience in managing this case for which there are no clear guidelines.


Assuntos
Aspergilose/diagnóstico , Hidronefrose/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Obstrução Ureteral/diagnóstico , Adolescente , Anuria/etiologia , Aspergilose/diagnóstico por imagem , Aspergilose/etiologia , Aspergilose/cirurgia , Humanos , Hidronefrose/diagnóstico por imagem , Hidronefrose/etiologia , Hidronefrose/cirurgia , Hospedeiro Imunocomprometido , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras B/sangue , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamento farmacológico , Tomografia Computadorizada por Raios X , Obstrução Ureteral/diagnóstico por imagem , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia
5.
BMJ Case Rep ; 20172017 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-28320703

RESUMO

Plasmablastic lymphoma, a rare highly aggressive non-Hodgkin's lymphoma subtype, often associated with HIV infection, is a close differential diagnosis of plasmablastic myeloma. The 2 conditions may be morphologically and immunophenotypically identical. However, differentiating between the 2 conditions is critical for adequate patient management. Herein, we describe an unusual case of plasmablastic myeloma with biclonal gammopathy which was initially diagnosed as plasmablastic lymphoma based on lymph node biopsy and immunohistochemistry (IHC) results. The incidental finding of lytic bone lesion on imaging prompted further investigations. The presence of multiple osteolytic lesions, biclonal gammopathy on serum protein electrophoresis and immunofixation, negative Epstein-Barr virus-encoded small RNAs on IHC led to revision of the diagnosis to plasmablastic variant of multiple myeloma. The patient was initially started on bortezomib plus dose-adjusted EPOCH chemotherapy for plasmablastic lymphoma. Subsequently, he was treated with RVD (lenalidomide, bortezomib, dexamethasone) regimen for plasmablastic myeloma and he achieved stringent complete response after 4 cycles.


Assuntos
Linfadenopatia/etiologia , Mieloma Múltiplo/diagnóstico , Osteólise/etiologia , Bortezomib/uso terapêutico , Dexametasona/uso terapêutico , Diagnóstico Diferencial , Humanos , Achados Incidentais , Lenalidomida , Linfadenopatia/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/tratamento farmacológico , Osteólise/diagnóstico por imagem , Talidomida/análogos & derivados , Talidomida/uso terapêutico , Resultado do Tratamento
6.
BMJ Case Rep ; 20162016 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-27899386

RESUMO

Thyroid abscess is a very rare clinical condition. It usually occurs in immunocompromised individuals or those with underlying malignancy. We report a case of multiple thyroid abscesses in the patient with Pre B acute lymphoblastic leukaemia which developed secondary to hematogenous spread from pyomyositis of right calf muscle. The patient developed sepsis-associated disseminated intravascular coagulation, which got resolved after thyroidectomy. He became afebrile after surgical intervention. Unfortunately, all the cultures were negative. Since there are few case series and reports, there are no clear guidelines for management of thyroid abscess. We conclude that though rare, thyroid abscess may be the cause of persistent fever in immunocompromised patients.


Assuntos
Abscesso/patologia , Antibacterianos/uso terapêutico , Drenagem , Febre/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Piomiosite/diagnóstico , Sepse/diagnóstico , Doenças da Glândula Tireoide/patologia , Glândula Tireoide/patologia , Tireoidectomia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica , Clindamicina/uso terapêutico , Febre/etiologia , Febre/patologia , Humanos , Masculino , Meropeném , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras B/cirurgia , Prednisolona/uso terapêutico , Piomiosite/complicações , Piomiosite/tratamento farmacológico , Sepse/tratamento farmacológico , Sepse/etiologia , Teicoplanina/uso terapêutico , Tienamicinas/uso terapêutico , Doenças da Glândula Tireoide/etiologia , Doenças da Glândula Tireoide/cirurgia , Resultado do Tratamento
7.
J Clin Diagn Res ; 10(6): OD12-3, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27504337

RESUMO

Systemic Sclerosis is a multisystem disease associated with progressive fibrosis of skin and internal organs. It is diagnosed by presence of characteristic clinical findings and is supported by specific serologic abnormalities. ANA is positive in case of systemic sclerosis in 90 percent of cases. We report a rare case of this rare disease where patient was ANA, Antitopoisomerase I (anti-Scl-70), Anticenteromere antibody negative.

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