Cases reported "sickle cell trait"

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1/184. Splenic calcifications in heterozygote sickle cell patients.

    A small, fibrotic, and even calcified spleen is the hallmark of homozygote sickle cell disease in adults. Such a condition is very rare in sickle-thalassemia and, to our knowledge, not previously reported in a sickle cell trait. We report two heterozygote sickle cell siblings with splenic calcifications, one sickle cell trait and one sickle-beta -thalassemia, without any history suggestive of splenic vasooclusive-infarctive crisis. ( info)

2/184. Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma.

    PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND methods: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease. ( info)

3/184. An unusual cause of haematuria.

    A case of gross haematuria is described in a young woman. This was initially attributed to the use of analgesics. Subsequent history and investigation confirmed that the cause for the haematuria was sickle cell trait occurring in an individual in whom it was not initially suspected. ( info)

4/184. Hyponatraemia: biochemical and clinical perspectives.

    Hyponatraemia is a common bio-chemical abnormality, occurring in about 15% of hospital inpatients. It is often associated with severe illness and relatively poor outcome. Pathophysiologically, hyponatraemia may be spurious, dilutional, depletional or redistributional. Particularly difficult causes and concepts of hyponatraemia are the syndrome of inappropriate antidiuresis and the sick cell syndrome, which are discussed here in detail. Therapy should always be targeted at the underlying disease process. 'Hyponatraemic symptoms' are of doubtful importance, and may be more related to water overload and/or the causative disease, than to hyponatraemia per se. Artificial elevation of plasma sodium by saline infusion carries the risk of induction of osmotic demyelination (central pontine myelinolysis). ( info)

5/184. Acute renal insufficiency due to oral acyclovir in a man with sickle cell trait.

    Several published reports have suggested that oral acyclovir can cause renal insufficiency, but baseline renal function was either abnormal or unclear in those reports. We describe a patient with oral acyclovir-induced acute renal failure and a normal serum creatinine level documented just before exposure to the drug. Conceivably, competition with a cephalosporin for renal tubular elimination predisposed our patient to nephrotoxic serum levels of acyclovir. In addition, the patient had sickle cell trait, which might have contributed to a disproportionate degree of hyperkalemia and acidosis seen early in the patient's clinical course. ( info)

6/184. pallister-hall syndrome: clinical and MR features.

    A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of pallister-hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. ( info)

7/184. Thrombotic thrombocytopenic purpura in a patient with sickle cell crisis.

    The combination of sickle cell disease crisis and thrombotic thrombocytopenic purpura has been described only a few times. Here we present the case of a patient with a hemolytic crisis due to sickle cell disease complicated by thrombotic thrombocytopenic purpura. We also review the cases previously reported and compare and contrast them, highlighting diagnostic challenges. ( info)

8/184. Renal medullary carcinoma: sonographic, computed tomography, magnetic resonance and angiographic findings.

    Renal medullary carcinoma is a recently described, highly aggressive tumour, occurring predominantly in young patients of African descent with sickle cell trait (SCT). All have been metastatic at surgery. Surgery, radiotherapy and chemotherapy do not appear to alter the course of the disease. The survival time is very short. Presentation is usually with haematuria, abdominal pain and weight loss. Forty-nine patients have been reported from the USA, of these 47 were African/Americans. The reports have mostly appeared in pathology journals. On review of the imaging findings reported in the radiological journals, it becomes apparent that it is possible for a radiologist to suggest a specific diagnosis in the appropriate demographic and clinical setting. Here the first British patient of Afro-Caribbean decent in whom a pre-operative diagnosis was suggested on the imaging findings of a centrally located renal pelvic tumour, encasing the pelvis on a background of SCT in a 28-year-old is described. It is expected that a high index of suspicion in the appropriate clinical setting may lead to earlier diagnosis, treatment and survival of patients. The patient is alive and reasonably well 9 months after surgery. The full range of imaging findings in renal medullary carcinoma are described. ( info)

9/184. Donor lymphocyte infusion to eradicate recurrent host hematopoiesis after allogeneic BMT for sickle cell disease.

    BACKGROUND: Donor lymphocyte infusion (DLI) is currently standard therapy for relapse of malignancies after allogeneic BMT. Several observations suggest that both normal and leukemic progenitor cells of host origin constitute effective target cells for donor-derived lymphocytes. To prevent relapse of sickle cell disease (SCD), a child with evidence of decreasing mixed chimerism received DLIs 8 months after allogeneic BMT for SCD. CASE REPORT: A 4-year-old child who was homozygous for SCD underwent a transplantation of bone marrow from his fully HLA-matched sister. Routine detection of sex chromosomes in bone marrow cells evidenced decreasing mixed chimerism, which heralded a probably imminent recurrence of the disease. The patient received two DLIs in graded incremental doses on Days 234 and 267. One month later, he developed grade 2 acute GVHD that responded well to corticosteroids and cyclosporine. RESULTS: DLI resulted in complete donor chimerism within 2 months of the second infusion. Now, 2 years after the second DLI, the patient is in excellent condition, with normal Hb and excellent growth and development. CONCLUSION: This is the first report of successful use of DLI in a patient with probable imminent SCD recurrence after allogeneic BMT. It shows that DLI can displace residual host HPCs in case of recurrence of nonmalignant disease after allogeneic BMT. ( info)

10/184. Transcorneal oxygen therapy for glaucoma associated with sickle cell hyphema.

    PURPOSE: To study three patients with glaucoma caused by sickle cell hyphema who were successfully treated with transcorneal oxygen therapy. methods: case reports. Three patients with increased intraocular pressure caused by sickle cell hyphema were administered transcorneal oxygen therapy using humidified oxygen at a flow rate that ranged from 1 to 3 l/minute. RESULTS: All three patients had a dramatic reduction in their intraocular pressure within hours of receiving oxygen therapy. No complications were associated with the oxygen therapy. CONCLUSION: Transcorneal oxygen therapy can reduce intraocular pressure in patients with glaucoma from sickle cell hyphema. Further study is warranted to evaluate this new therapy. ( info)
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