Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hip pain due to aseptic necrosis of the femoral head was the first clinical manifestation of chronic myelogenous leukemia in a 9-year-old white female. An erroneous diagnosis of rheumatoid arthritis was first entertained. Physical examination showed splenomegaly, complete blood count revealed leucocytosis of 359,000. The initial radiograph of the involved hip was negative. Biopsy revealed aseptic necrosis of the femoral head. Chronic myelogenous leukemia (CML) was diagnosed on the basis of the peripheral blood smear and bone marrow biopsy. Two months later, radiograph, radionuclide bone scan, and magnetic resonance imaging (MR) of the involved hip were positive for aseptic necrosis of the femoral head.
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PMID:Avascular bone necrosis in an untreated case of chronic myelogenous leukemia. 317 94

A thirty-five year old woman presented with bilateral neck, chest wall and back masses. She was 16 weeks pregnant. Lymph node excision revealed metastatic poorly differentiated adenocarcinoma of unknown primary. Abdominal ultrasound showed a mildly enlarged spleen and a 2-3 cm porta hepatis node. All other investigations were negative. The lymph node and cutaneous metastases progressed rapidly so it was decided to initiate systemic chemotherapy with a view to delivery at 28 weeks gestation by Caesarean section. Shortly after the second 3-weekly cycle of cisplatinum chemotherapy the patient suffered severe lower back and hip pain with MRI scan showing multiple bony metastases in the pelvic girdle. Ultrasound revealed the fetus to have been dead for at least 10 days. The products of conception were delivered following medical induction of labour. Two days later the patient suffered a cardiac arrest from which she could not be resuscitated. Placental histology revealed extensive metastases. With the exception of melanoma this has rarely been reported in solid adult malignancy. As a cause of fetal death, placental metastases are extremely rare.
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PMID:Intra-uterine death resulting from placental metastases in adenocarcinoma of unknown primary. 1210 24

Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally has an onset in childhood and by definition, includes all patients with any form of neurologic involvement who have survived the first few years of life. Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed mental retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease. This is the first case of Type 3 Gaucher disease being reported from India with mutation analysis and only case of Type 3 Gaucher disease in world literature showing R463C/Rec Nci I mutation.
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PMID:Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. 2448 53

Myelofibrosis is a myeloproliferative disease that falls under a group of bone marrow malignancies known as myeloproliferative neoplasms. It manifests with splenomegaly, anemia, leukocytosis and, less commonly, bone pain. Ruxolitinib, Janus kinase inhibitor, has been shown to increase survival, to improve symptoms and has the potential to decrease osteosclerotic changes. Herein, we present a case of primary myelofibrosis (PMF) in a 60-year-old female who presented with 8-month history of progressive left hip pain and later was diagnosed with pathological neck of femur fracture that was treated with cementless hemiarthroplasty. In conclusion, the use of cementless implants in hip arthroplasty in the presence of PMF has shown to be an effective and safe choice.
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PMID:Cementless bipolar hemiarthroplasty in a patient with PMF: a case report. 3174 58