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1.
BMJ Case Rep ; 16(1)2023 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-36634987

RESUMO

Vitamin B12 deficiency is a significant public health problem globally. Although it is a well-known cause of macrocytic anaemia and in advanced cases, pancytopenia, there remains a relative paucity of cases reported in pregnancy. It is associated with an increased risk of pregnancy complications and adverse birth outcomes such as neural tube defects, preterm birth, low birth weight, neurological sequelae and intrauterine death. It has a predilection for individuals aged >60 years. It has been implicated in a spectrum of neuropsychiatric disorders and it may also exert indirect cardiovascular effects. Severe vitamin B12 deficiency may present with haematological abnormalities that mimic thrombotic microangiopathy such as HELLP syndrome (haemolysis, elevated liver enzymes and low platelets) or it may present as pseudothrombotic microangiopathy (Moschcowitz syndrome) characterised by anaemia, thrombocytopenia and schistocytosis. It can also closely mimic thrombotic thrombocytopenia purpura, hence posing a diagnostic challenge to the unwary physician. Serological measurement of vitamin B12 levels confirms the diagnosis. Oral supplementation with vitamin B12 remains a safe and effective treatment. The authors describe the case of a multiparous woman in her late 20s presenting with a plethora of non-specific symptoms at 29+5 weeks' gestation. Her haemoglobin was 45 g/L, platelets 32×109/L, vitamin B12 <150 ng/L and serum folate <2 µg/L. She was not a vegetarian, but her diet lacked nutrition. Following parenteral B12 supplementation, her haematological parameters improved. The pregnancy was carried to term. Due to the plethora of non-specific symptoms, the diagnosis can be challenging to establish. Adverse maternal or fetal outcomes may occur. Folic acid supplementation may mask an occult vitamin B12 deficiency and further exacerbate or initiate neurological disease.


Assuntos
Pancitopenia , Complicações na Gravidez , Nascimento Prematuro , Púrpura Trombocitopênica Trombótica , Deficiência de Vitamina B 12 , Recém-Nascido , Gravidez , Feminino , Humanos , Vitamina B 12/uso terapêutico , Pancitopenia/complicações , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico , Púrpura Trombocitopênica Trombótica/diagnóstico , Complicações na Gravidez/diagnóstico , Vitaminas , Ácido Fólico/uso terapêutico
2.
BMJ Case Rep ; 16(1)2023 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-36604107

RESUMO

We present the case of a young female landscaper who presented to an Australian tertiary hospital with persistent fevers and new pancytopenia. Extensive initial workup for her presenting illness did not identify a cause; however, a detailed history of her occupation revealed she worked heavily with soil on farms that had domestic livestock in addition to rodents. Hence, further serological testing for leptospirosis was performed, revealing a diagnosis of infection with Leptospira interrogans serovar Hardjo. Treatment covering leptospirosis was commenced, and she improved clinically, and her cell counts returned to normal. Pancytopenia is a rare manifestation of leptospirosis and has only been reported in a handful of case studies. We highlight that leptospirosis should be considered as a differential diagnosis in those with fever, and new pancytopaenia, particularly in patients with relevant risk factors for exposure.


Assuntos
Leptospira interrogans , Leptospira , Leptospirose , Pancitopenia , Feminino , Humanos , Pancitopenia/etiologia , Austrália , Leptospirose/complicações , Leptospirose/diagnóstico , Leptospirose/tratamento farmacológico , Fatores de Risco , Anticorpos Antibacterianos
4.
Zhonghua Nei Ke Za Zhi ; 62(1): 23-30, 2023 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-36631034

RESUMO

Hemophagocytic syndrome (HPS), which is currently named as hemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory syndrome characterized by persistent fever, hepatosplenomegaly, pancytopenia and hemophagocytosis found in bone marrow, liver, spleen and lymph nodes due to excessive activation of macrophages and cytotoxic T cells. Macrophage activation syndrome (MAS) is a specific form of HLH induced by autoinflammatory/autoimmune disorders which can be life-threatening and requires multiple disciplines. In order to improve clinicians' understanding of MAS and standardize the clinical diagnosis and treatment practice of MAS, the rheumatology branch of Chinese Rheumatology Association organized domestic experts to formulate the diagnosis and treatment standard, in order to improve the diagnosis and treatment level of MAS and improve the prognosis of patients.


Assuntos
Linfo-Histiocitose Hemofagocítica , Pancitopenia , Doenças Reumáticas , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Prognóstico , Síndrome , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/terapia
5.
Sci Rep ; 13(1): 931, 2023 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-36650391

RESUMO

Visceral leishmaniasis is a major, life-threatening parasitic disease that still remains a serious public health problem in Ethiopia. Understanding the epidemiological, clinical, and hematological profiles of visceral leishmaniasis patients is important for implementing evidence-based control strategies. It is also important for early treatment and to decrease the mortality rate from the disease. Therefore, this study was aimed at assessing the epidemiological, clinical, and hematological profiles of visceral leishmaniasis among patients visiting Tefera Hailu Memorial Hospital, Northeast Ethiopia. A retrospective study was conducted at Tefera Hailu Memorial Hospital from September 2017 to August 2021. Data were collected from the medical records of suspected patients who were tested by the rK39 rapid diagnostic by strictly following standard operating procedures. The data was summarized using Microsoft Excel and analyzed using SPSS 26 version software. Descriptive statistics were used to describe the epidemiological, clinical, and hematological profiles of visceral leishmaniasis patients. A p-value < 0.05 was considered statistically significant. The overall positivity rate for visceral leishmaniasis was 23.4% (132/564). The result of this study indicated a fluctuating yet declining trend in VL over the past 4 years. From a total of 132 VL confirmed cases, the numbers of cases were highest among males (78.0%), those 15-29 years of age (37.1%), and urban residents (89.4%). Furthermore, Abergele (11.0%), Sehala (6.0%), and Ziquala (5.0%) districts had the highest number of VL cases. The major clinical presentations of patients were fever (96.2%), splenomegaly (94.7%), and general weakness (80.3%). With regard to hematological profiles, the most common findings were anemia (86.4%), thrombocytopenia (81.8%), leucopenia (78.8%), neutropenia (74.2%), and pancytopenia (71.2%). In the study area, the VL positivity rate was high. Our findings also concluded that VL causes significant alterations in clinical and hematological parameters. Therefore, the zone health office and other concerned stakeholders should strengthen evidence-based control programs for VL.


Assuntos
Leishmaniose Visceral , Leucopenia , Pancitopenia , Trombocitopenia , Masculino , Humanos , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/epidemiologia , Estudos Retrospectivos , Etiópia/epidemiologia , Hospitais
6.
BMC Pharmacol Toxicol ; 23(1): 89, 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36451204

RESUMO

BACKGROUND: Linezolid causes hematological toxicity, mostly thrombocytopenia, which leads to treatment discontinuation and failure. Recent studies revealed that during linezolid therapy, the incidence of treatment-related hematological toxicity is significantly higher in patients with decreased renal function (DRF) than in those with normal renal function. Linezolid monitoring is necessary due to the high frequency of hematological toxicity in patients with DRF and the relationship between blood concentration and safety. We performed a systematic review and meta-analysis to evaluate the safety correlation between DRF and trough monitoring. METHODS: Articles published before June 24, 2022, on MEDLINE, Web of Sciences, Cochrane Register of Controlled Trials, and ClinicalTrials.gov were systematically analyzed. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using the Mantel-Haenszel method and the variable effects model. RESULTS: The incidence of hematological toxicity was significantly higher in patients with DRF than in those without DRF (OR = 2.37; p < 0.001). Subgroup analysis, performed according to hematotoxicity classification, including thrombocytopenia, anemia, and pancytopenia, revealed a significantly higher incidence of thrombocytopenia (OR = 2.45; p < 0.001) and anemia (OR = 2.31; p = 0.006) in patients with DRF than in those without; pancytopenia (OR = 1.41; p = 0.80) incidences were not significantly higher. Based on a systematic review, linezolid trough concentrations > 6-7 µg/mL may be associated with an increased incidence of thrombocytopenia. However, no confidential threshold values for the development of thrombocytopenia were found in the area under the concentration curve values for children or adults. CONCLUSION: We observed a high frequency of hematological toxicity during linezolid therapy in patients with DRF. To ensure safety, linezolid trough concentrations should be ≤6-7 µg/mL.


Assuntos
Pancitopenia , Trombocitopenia , Adulto , Criança , Humanos , Linezolida/efeitos adversos , Trombocitopenia/induzido quimicamente , Trombocitopenia/epidemiologia , Razão de Chances , Rim/fisiologia
7.
J Med Case Rep ; 16(1): 466, 2022 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-36527138

RESUMO

BACKGROUND: Ophthalmic manifestations are common in patients with leukemia, developing in nearly 50% of cases. Intracranial hemorrhage is another potentially fatal complication of leukemia. In this case report, we aim to present a challenging case that involves both ophthalmic and intracranial manifestations in an individual with acute monocytic leukemia. CASE PRESENTATION: A 36-year-old Persian male presented to the emergency room with complaints of fever, headache, and bilateral blurred vision. The patient had been diagnosed with acute monocytic leukemia 3 months prior and had undergone four sessions of induction chemotherapy, the last of which was 10 days prior to admission. The patient was admitted to the internal medicine service, and initial lab studies confirmed pancytopenia, including severe neutropenia, anemia, and thrombocytopenia. Subarachnoid hemorrhage in the left frontal lobe was detected through spiral brain computed tomography scan. Ophthalmic examination revealed visual acuity of light perception in the right eye and 3-m finger count in the left eye. Fundus examination revealed bilateral peripapillary subhyaloid and intraretinal hemorrhages, confirming leukemic retinopathy. The patient showed significant improvement in visual acuity and hemorrhage resolution through conservative treatment and regular follow-ups after 3 months. CONCLUSION: Simultaneous subarachnoid hemorrhage and bilateral subhyaloid hemorrhages seemed to have occurred as a result of pancytopenia. Management approach of ophthalmic manifestations of leukemia involves interdisciplinary cooperation and should be individualized on the basis of the patients' underlying medical condition.


Assuntos
Anemia , Leucemia Monocítica Aguda , Leucemia , Pancitopenia , Hemorragia Subaracnóidea , Humanos , Masculino , Adulto , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/diagnóstico por imagem , Leucemia Monocítica Aguda/complicações , Pancitopenia/complicações , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/etiologia , Fundo de Olho , Anemia/complicações , Leucemia/complicações
8.
J Med Case Rep ; 16(1): 463, 2022 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-36522676

RESUMO

BACKGROUND: Felty syndrome is defined by three conditions: neutropenia, rheumatoid arthritis, and splenomegaly. Neutropenia associated with pancytopenia may further affect the dental condition of a patient. Periodontal treatment and surgery in patients with Felty syndrome necessitates cooperation with a hematologist. Here we present a case of a patient with Felty syndrome who was initially referred to the oral surgery hospital attached to the School of Dentistry for extensive periodontitis. She was effectively treated in collaboration with the hematology department. CASE PRESENTATION: A 55-year-old Asian woman visited our department with concerns of worsening tooth mobility, discomfort, and spontaneous gingival bleeding. Initial periodontal examination revealed generalized severe periodontitis (Stage IV Grade C) resulting from leukopenia/neutropenia and poor oral hygiene. A thorough treatment strategy involving comprehensive dental procedures, such as multiple extractions and extensive prosthetic treatment, was implemented. Following the diagnosis of Felty syndrome, the patient was started on treatment with oral prednisolone 40 mg/day, which effectively controlled the disease. Furthermore, there was no recurrence of severe periodontitis after the periodontal treatment. CONCLUSIONS: Dentists and physicians should be aware that immunocompromised individuals with pancytopenia and poor oral hygiene are at risk of developing extensive periodontitis. If their susceptibility to infection and pancytopenia-related bleeding can be managed, such patients can still receive comprehensive dental treatment, including teeth extractions and periodontal therapy. Cooperation among the dentist, hematologist, and patient is necessary to improve treatment outcomes and the patient's quality of life.


Assuntos
Perda do Osso Alveolar , Síndrome de Felty , Neutropenia , Pancitopenia , Periodontite , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Felty/complicações , Síndrome de Felty/diagnóstico , Qualidade de Vida , Pancitopenia/complicações , Perda do Osso Alveolar/terapia , Perda do Osso Alveolar/complicações , Periodontite/complicações , Periodontite/diagnóstico , Periodontite/terapia , Neutropenia/complicações
9.
Pan Afr Med J ; 43: 61, 2022.
Artigo em Francês | MEDLINE | ID: mdl-36523284

RESUMO

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. It is characterized by non-infectious and non-malignant chronic lymphoproliferation and an increased risk of lymphoid malignancy. The diagnosis of this condition usually combines chronic lymphadenopathy and/or splenomegaly exceeding 6 months, autoimmune cytopenias, with an elevated level of CD3+CD4-CD8- Tαß lymphocytes, known as "double-negative" T cells. Differential diagnosis includes infections, autoimmune diseases or malignancies. Although clinical examination and laboratory tests are highly suggestive, this disease goes widely unrecognized. We here report, for the first time, the case of ALPS, a Moroccan patient, and aged 8 years, with recurrent fever, splenomegaly and adenopathies. Paraclinical examinations revealed chronic pancytopenia, higher than normal TαÎ2 double negative lymphocytes, hypergammaglobulinemia, and elevated serum levels of soluble FAS ligand. The diagnosis of ALPS was made. First-line treatment included corticosteroids and immunoglobulins. Then the patient received mycophenolate followed by Sirolimus. This treatment resulted in better clinical and laboratory tests results. Our aim is to raise awareness of this rare condition, which may be under-diagnosed, among physicians.


Assuntos
Doenças Autoimunes , Síndrome Linfoproliferativa Autoimune , Pancitopenia , Humanos , Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/genética , Síndrome Linfoproliferativa Autoimune/terapia , Esplenomegalia/etiologia , Sirolimo , Imunossupressores/uso terapêutico
10.
J Investig Med High Impact Case Rep ; 10: 23247096221139260, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36419220

RESUMO

Autism spectrum disorder (ASD) is a neuro-behavioral syndrome that develops in childhood and can be comorbid with restrictive and avoidant food intake disorder. This case details a young man who was hospitalized with pancytopenia due to restrictive nutritional intake related to his severe ASD. He was found to have undetectable vitamin B12 levels. His blood counts improved with transfusion, nutritional supplementation, and dental care. This report illustrates the importance of understanding ASD and potential medical complications of related behaviors.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Pancitopenia , Adulto , Masculino , Humanos , Transtorno Autístico/complicações , Transtorno do Espectro Autista/complicações , Pancitopenia/etiologia , Suplementos Nutricionais/efeitos adversos , Ingestão de Alimentos
11.
BMC Vet Res ; 18(1): 384, 2022 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-36324112

RESUMO

BACKGROUND: Multiple myeloma (MM) is an uncommon neoplasm in cats. There is no established standard of treatment due to the rare occurrence of this disease in cats. Bortezomib is a proteasome inhibitor that serves as the first-line drug for MM in humans, but its effectiveness currently is unknown in feline MM. We present here the case report of a feline MM that exhibited a favorable response to bortezomib. CASE PRESENTATION: The case was an 11-year-old non-castrated male domestic cat with light-chain MM presenting with clinical symptoms (anorexia, fatigue, and vomiting), mild azotemia, and pancytopenia. The cat failed on melphalan with prednisolone (MP), so bortezomib (Velcade) was initiated on Day 88. A total of 6 cycles of the treatment was performed, with each treatment cycle consisting of twice-weekly subcutaneous administration for 2 weeks followed by a 1-week rest. The dose of bortezomib was 0.7 mg/m2 for first week and 1.0 mg/m2 for second week in the first cycle. A dose of 0.7 mg/m2 was used for subsequent cycles. Prednisolone was used concomitantly in the first 2 cycles. Following treatment with bortezomib, clinical symptoms disappeared and a decrease in serum globulin and recovery of pancytopenia were noted. A monoclonal gammopathy, overproduction of serum immunoglobulin light chain, and Bence-Jones proteinuria that existed at diagnosis were undetectable on Day 123. A monoclonal gammopathy also was not detectable at the end of the bortezomib treatment (Day 213). Anorexia, fatigue, and marked bone marrow toxicity were experienced when bortezomib was administrated at a dose of 1.0 mg/m2, while no recognizable toxicity was observed at a dose of 0.7 mg/m2 throughout the treatment period. The case was placed on follow-up and there was no evidence of relapse as of Day 243. CONCLUSIONS: Bortezomib was effective and durable for the treatment of this case of feline MM after failure with MP. Bortezomib was well-tolerated in this cat at a dose of 0.7 mg/m2, but not at 1.0 mg/m2. Bortezomib appears to be a drug worthy of further study for the treatment of feline MM.


Assuntos
Doenças do Gato , Mieloma Múltiplo , Pancitopenia , Paraproteinemias , Humanos , Gatos , Masculino , Animais , Bortezomib/uso terapêutico , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo/veterinária , Mieloma Múltiplo/diagnóstico , Pancitopenia/veterinária , Anorexia/veterinária , Recidiva Local de Neoplasia/veterinária , Paraproteinemias/tratamento farmacológico , Paraproteinemias/veterinária , Prednisolona/uso terapêutico , Fadiga/veterinária , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Resultado do Tratamento , Doenças do Gato/tratamento farmacológico
12.
BMJ Case Rep ; 15(11)2022 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-36379633

RESUMO

During the COVID-19 pandemic, it was recognised that SARS-CoV-2 can cause multisystem illness. Non-respiratory complications observed early in the pandemic were haematological in nature. A rare but serious haematological complication of COVID-19 infection is pancytopaenia. We describe a case of an older adult without pre-existing haematological disease or risk factors for cell dyscrasia with severe pancytopaenia induced by COVID-19, who developed critical illness requiring respiratory support in intensive care and died. Our case report highlights that de novo pancytopaenia may only present with mild dermatological manifestations and may indicate severe COVID-19 infection. Management is primarily supportive and early involvement of haematology should be sought.


Assuntos
COVID-19 , Pancitopenia , Humanos , Idoso , COVID-19/complicações , Pandemias , SARS-CoV-2 , Cuidados Críticos
13.
JAAPA ; 35(12): 33-35, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36412938

RESUMO

ABSTRACT: Patients with immunocompromise presenting with abdominal pain can present a diagnostic challenge, because they may have atypical or vague symptoms. This case report discusses nonoperative management of a patient with immunocompromise, complicated appendicitis, and intra-abdominal infection.


Assuntos
Apendicite , Síndromes Mielodisplásicas , Pancitopenia , Humanos , Apendicite/complicações , Apendicite/diagnóstico , Pancitopenia/complicações , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/terapia , Dor Abdominal/etiologia , Dor Abdominal/diagnóstico
14.
Tokai J Exp Clin Med ; 47(4): 177-181, 2022 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-36420549

RESUMO

BACKGROUND: Hematological involvement, including anemia, leukopenia, lymphopenia, and thrombocytopenia, is one of the most common manifestations of childhood-onset systemic lupus erythematosus (cSLE). Specifically, relatively severe forms of hematological involvement, such as macrophage activation syndrome (MAS) and thrombotic microangiopathy, occur in the course of the disease. Positivity for anti-double stranded-DNA (ds-DNA) antibody and hypocomplementemia are important as not only criteria of diagnosing cSLE but also in the determination of the disease activity. CASE REPORT: A 13-year-old boy without pre-existing disease was referred to our hospital chiefly complaining of a fever for > 7 days, long-lasting malaise, nausea, and non-malar face rash. His blood examination showed pancytopenia and hyperferritinemia, but positive results for anti-ds-DNA antibody and hypocomplementemia were not recognized. Bone marrow aspiration revealed no evidence of malignant diseases, hemophagocytic lymphohistiocytosis, or MAS. A renal biopsy for the differential diagnosis of proteinuria and hematuria revealed class IIIa +V lupus nephritis, leading to the diagnosis of cSLE. CONCLUSIONS: It is important for cSLE to be considered in patients with pancytopenia, even those without positive anti-ds-DNA antibody findings or hypocomplementemia, and for aggressive approaches to be adopted for the differential diagnosis, including a renal biopsy.


Assuntos
Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Pancitopenia , Masculino , Humanos , Adolescente , Pancitopenia/diagnóstico , Pancitopenia/etiologia , Anticorpos Antinucleares , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/patologia , Nefrite Lúpica/diagnóstico , Nefrite Lúpica/patologia , DNA
16.
Medicine (Baltimore) ; 101(41): e31042, 2022 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-36254023

RESUMO

RATIONALE: Pancytopenia and epilepsia are rare complications of Graves' disease (GD). Muscle weakness is a physical sign of GD. It is extremely rare for GD patients to present 3 symptoms at the same time. PATIENT CONCERNS: A 35-year-old female was admitted to hospital for dizziness for 1 day. The results of laboratory examination on admission showed pancytopenia and hypothyroidism. Her clinical manifestations include pancytopenia, epilepsy, and muscle weakness. DIAGNOSIS: Graves' hyperthyroidism. INTERVENTIONS: She received endotracheal intubation, ventilator, antithyroid drugs, and hormone therapy. OUTCOME: The patient was discharged after treatment. LESSON: Severe complications caused by GD are rare and require antithyroid therapy. Although glucocorticoid is not recommended by the guidelines, it can effectively improve thrombocytopenia.


Assuntos
Epilepsia , Doença de Graves , Hipertireoidismo , Pancitopenia , Adulto , Antitireóideos/uso terapêutico , Epilepsia/tratamento farmacológico , Feminino , Glucocorticoides/uso terapêutico , Doença de Graves/tratamento farmacológico , Humanos , Hipertireoidismo/complicações , Debilidade Muscular/tratamento farmacológico , Debilidade Muscular/etiologia , Pancitopenia/complicações
17.
Expert Rev Hematol ; 15(11): 999-1008, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36314081

RESUMO

INTRODUCTION: Copper is increasingly being recognized as a vital mineral required by both animals and humans. It plays a vital role in many metabolic processes such as cellular respiration, iron oxidation, and hemoglobin synthesis. Copper deficiency, which can be hereditary or acquired, can lead to a wide spectrum of disease processes such as ringed sideroblastic anemia, myelodysplasia, and pancytopenia. Timely identification and management of copper deficiency is necessary to prevent irreversible complications. AREAS COVERED: Our study focuses on prevalence, etiology, pathophysiology, complications, and treatment of copper deficiency. EXPERT OPINION: Copper deficiency is frequently underrecognized as the cause of anemia, neutropenia, and bone marrow dysplasia. As it is potentially treatable, it should always be kept in the differentials when patients present with neurological and hematological abnormalities.


Assuntos
Anemia , Doenças Hematológicas , Síndromes Mielodisplásicas , Neutropenia , Pancitopenia , Animais , Humanos , Pancitopenia/diagnóstico , Pancitopenia/etiologia , Cobre/metabolismo , Anemia/etiologia , Doenças Hematológicas/complicações , Neutropenia/etiologia , Neutropenia/complicações , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico
18.
Hematology ; 27(1): 1191-1195, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36314944

RESUMO

OBJECTIVE: Various hematologic side effects of the Coronavirus Disease 2019 (COVID-19) vaccination has been reported, and most of them are thought to be related to autoimmune pathways. To the best of our knowledge, only few cases of post-COVID-19 vaccination aplastic anemia (AA) have been reported and there is no reported Korean case of COVID-19 vaccine-induced AA yet. We present a case of severe immune-mediated AA that developed after the administration of a messenger ribonucleic acid (mRNA) gene-based spike protein vaccine against COVID-19, which responded well to immunosuppressive therapy, and discuss the probable pathogenesis of AA and the implication of vaccination along with a comparison of previous cases reported. METHODS: A 53-year-old Korean man developed sudden pancytopenia three months after COVID-19 vaccination. To evaluate the cause of pancytopenia, a bone marrow study was performed. RESULTS: A diagnosis of AA was made through the bone marrow study and he received triple immunosuppressive therapy (IST). After triple IST for five months, his blood cell count was improved and maintained without transfusion and his follow-up bone marrow examination showed improved cellularity. CONCLUSION: COVID-19 vaccine might be associated with the development of immune-mediated AA. Prompt hematologic evaluation should be performed when there are symptoms or signs suggestive of cytopenia after COVID-19 vaccination. Although the clinical outcome of post-vaccination AA varies, a good prognosis can be possible for patients with COVID-19 vaccination-induced AA.


Assuntos
Anemia Aplástica , Vacinas contra COVID-19 , COVID-19 , Pancitopenia , Humanos , Masculino , Pessoa de Meia-Idade , Anemia Aplástica/tratamento farmacológico , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Terapia de Imunossupressão/efeitos adversos , Imunossupressores/efeitos adversos , Pancitopenia/induzido quimicamente , RNA Mensageiro , Vacinação/efeitos adversos
19.
J Pak Med Assoc ; 72(9): 1815-1819, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36280982

RESUMO

OBJECTIVE: To determine the aetiologies of pancytopenia based on bone trephine biopsy among paediatric and adult patients. Method: The retrospective cross-sectional study was conducted at the Haematology Department of Aga Khan University Hospital, Karachi, and comprised data from June 1, 2016, to October 31, 2019 related to pancytopenia patients who underwent bone marrow biopsy. Data included age, gender, presenting symptoms, physical examination, complete blood count, peripheral smear, bone marrow aspirate and trephine biopsy findings and final diagnosis. Data was analysed using SPSS 19. RESULTS: Of the 2852bone marrow biopsies done, 255(9%) related to evaluation of pancytopenia. Of them, 208(82%) were adult and 47(18%) were paediatric patients. The median age for adults was 38.8 years (range: 16-92years) and that in paediatric patients was 10.9 years (range: 2-15 years). Presenting symptoms were available for 182(71.4%) patients, and the commonest symptom was generalised weakness 128(70.3%). Overall, pallor was the most frequent sign 233(93.2%). Anisocytosis was predominant blood smear finding 156(61.1%), while the commonest aetiology was aplastic anaemia in both paediatric 23(49%) and adult 57(27.4%) groups. Bone marrow biopsy established the diagnosis in 253(99.2%) cases, while 2(0.95%) adult cases were not diagnosed. Of the diagnosed cases, 103(40.4%) were malignant; 15(32%) paediatric patients and 88(42.3%) adults. The rest were benign; 31(67.4%) paediatric patients and 119(3%) adults. CONCLUSIONS: Bone marrow biopsy helped in diagnosing all but 2 pancytopenic patients. Aplastic anaemia was the commonest cause in both paediatric and adult patients.


Assuntos
Anemia Aplástica , Pancitopenia , Adulto , Criança , Humanos , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Pancitopenia/diagnóstico , Pancitopenia/epidemiologia , Pancitopenia/etiologia , Medula Óssea/patologia , Exame de Medula Óssea , Anemia Aplástica/complicações , Anemia Aplástica/diagnóstico , Estudos Retrospectivos , Estudos Transversais , Biópsia
20.
Leukemia ; 36(12): 2827-2834, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36266327

RESUMO

Broader genetic screening has led to the growing recognition of the role of germline variants associated with adult bone marrow failure (BMF) and myeloid neoplasia (MN) not exclusively in children and young adults. In this study, we applied a germline variant panel to 3008 adult BMF and MN cases to assess the importance of germline genetics and its impact on disease phenotype and prognosis. In our cohort, up to 9.7% of BMF and 5.3% of MN cases carried germline variants. Our cohort also included heterozygous carriers of recessive traits, suggesting they contribute to the risk of BMF and MN. By gene category, variants of Fanconi anemia gene family represented the highest-frequency category for both BMF and MN cases, found in 4.9% and 1.7% cases, respectively. In addition, about 1.4% of BMF and 0.19% of MN cases harbored multiple germline variants affecting often functionally related genes as compound heterozygous. The burden of germline variants in BMF and MN was clearly associated with acquisition of monosomy 7. While BMF cases carrying germline variants showed similar overall survival as compared to the wild-type (WT) cases, MN cases with germline variants experienced a significantly shorter overall survival as compared to WT cases.


Assuntos
Transtornos Mieloproliferativos , Neoplasias , Pancitopenia , Humanos , Transtornos da Insuficiência da Medula Óssea , Heterozigoto , Fenótipo , Mutação em Linhagem Germinativa
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