Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypocupremia is a rare and under-recognised cause of bone marrow dysplasia and myeloneuropathy. A 47-year-old Caucasian woman had progressive ascending peripheral neuropathy and gait ataxia over 3 months and fatigue, dyspnoea and unintentional weight loss over 8 months. She had profound macrocytic anaemia and neutropenia. Initial workup included normal serum vitamin B12 Bone marrow biopsy was suggestive of copper deficiency. Serum copper levels were later confirmed to be undetectable. The patient received oral copper repletion which resulted in complete normalisation of haematological abnormalities 16 weeks later. However, neurological deficits persisted. This case describes a delayed diagnosis of hypocupremia as initially suggested through invasive testing. Associating myeloneuropathy with cytopenia is imperative for accurate and prompt diagnosis of hypocupremia, which can be confirmed by serum analysis alone. Developing an accurate differential diagnosis can help prevent unnecessary procedures. Furthermore, initiating prompt copper repletion prevents further neurological impairment. Neurological deficits are often irreversible.
 ...
PMID:Progressive myeloneuropathy with symptomatic anaemia. 3179 51

Therapy-related acute myeloid leukemia (AML) is a rare but potentially fatal adverse event caused by chemotherapy or radiotherapy. Herein we report a patient diagnosed with therapy-related AML 2 months after chemoradiotherapy for esophageal cancer. A 61-year-old man with dysphagia was diagnosed with locally advanced esophageal cancer with para-aortic lymph node metastasis. Laboratory blood test did not reveal any abnormality except mild macrocytic anemia. To alleviate dysphagia due to malignant esophageal stenosis, the patient underwent concurrent chemoradiotherapy of 60 Gy in 30 fractions with cisplatin and 5-fluorouracil at a local area in thoracic esophagus. Dysphagia alleviated during chemoradiotherapy; however, pancytopenia did not recover after the completion of chemoradiotherapy, and general fatigue with fever developed 13 weeks after the last day of chemoradiotherapy. To rule out hematological malignancy, bone marrow biopsy was performed. The bone marrow smear and flow cytometry analysis indicated the development of AML. Chromosomal test revealed a complex karyotype, suggesting that AML was associated with myelodysplastic syndrome. The patient died 1 month after the diagnosis of therapy-related AML. Thus, the findings indicate that therapy-related AML may develop during the acute phase of chemoradiotherapy and bone marrow biopsy is necessary when prolonged pancytopenia exists after chemoradiotherapy.
 ...
PMID:Therapy-Related Acute Myeloid Leukemia 2 Months after Chemoradiotherapy for Esophageal Cancer: A Case Report. 3230 95

Vitamin B12 deficiency and folate deficiency are common causes of macrocytic anaemia and both are important for many cellular processes. These deficiencies could be due to inadequate dietary intake, impaired absorption or drug ingestion. We present a case of a 47-year-old male with a history of diffuse large B-cell lymphoma (DLBCL) who was admitted for fatigue, persistent frontal headache and left upper-quadrant abdominal pain. Further investigation showed that he had pancytopenia with microangiopathic haemolytic anaemia (MAHA) and intracranial bleeding (ICB). Serum vitamin B12 and folate were later found to be low and a diagnosis of combined vitamin B12 and folate deficiency mimicking thrombotic thrombocytopenic purpura (TTP) was made. The patient responded well to vitamin B12 and folate replacement.
 ...
PMID:Microangiopathic haemolytic anaemia and thrombocytopenia due to combined vitamin B12 and folate deficiency masquerading as thrombotic thrombocytopenic purpura. 3256 85


<< Previous 1 2 3