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Aceruloplasminaemia: a rare but important cause of iron overload.
Doyle, A, Rusli, F, Bhathal, P
BMJ case reports. 2015
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Abstract
We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
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A case report of deferasirox-induced kidney injury and Fanconi syndrome.
Murphy, N, Elramah, M, Vats, H, Zhong, W, Chan, MR
WMJ : official publication of the State Medical Society of Wisconsin. 2013;(4):177-80
Abstract
Cases of kidney injury associated with the use of deferasirox chelation therapy during the course of treatment for iron overload have been reported infrequently. We present the case of a patient treated with deferasirox who had biopsy-proven tubular injury in the setting of clinical Fanconi syndrome. The patient required hospitalization for metabolic acidosis, electrolyte abnormalities, and associated symptoms. With supportive care and cessation of chelation therapy he improved, but has yet to fully recover. This is the first known case reporting biopsy-proven tubular damage in the setting of deferasirox use.
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Rapid induction of multiple resistance mechanisms in Aspergillus fumigatus during azole therapy: a case study and review of the literature.
Camps, SM, van der Linden, JW, Li, Y, Kuijper, EJ, van Dissel, JT, Verweij, PE, Melchers, WJ
Antimicrobial agents and chemotherapy. 2012;(1):10-6
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Abstract
Nine consecutive isogenic Aspergillus fumigatus isolates cultured from a patient with aspergilloma were investigated for azole resistance. The first cultured isolate showed a wild-type phenotype, but four azole-resistant phenotypes were observed in the subsequent eight isolates. Four mutations were found in the cyp51A gene of these isolates, leading to the substitutions A9T, G54E, P216L, and F219I. Only G54 substitutions were previously proved to be associated with azole resistance. Using a Cyp51A homology model and recombination experiments in which the mutations were introduced into a susceptible isolate, we show that the substitutions at codons P216 and F219 were both associated with resistance to itraconazole and posaconazole. A9T was also present in the wild-type isolate and thus considered a Cyp51A polymorphism. Isolates harboring F219I evolved further into a pan-azole-resistant phenotype, indicating an additional acquisition of a non-Cyp51A-mediated resistance mechanism. Review of the literature showed that in patients who develop azole resistance during therapy, multiple resistance mechanisms commonly emerge. Furthermore, the median time between the last cultured wild-type isolate and the first azole-resistant isolate was 4 months (range, 3 weeks to 23 months), indicating a rapid induction of resistance.
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Medication-induced periostitis in lung transplant patients: periostitis deformans revisited.
Chen, L, Mulligan, ME
Skeletal radiology. 2011;(2):143-8
Abstract
We report five cases of diffuse periostitis resembling hypertrophic osteoarthropathy and perostitis deformans in lung transplantation patients on chronic voriconazole, a fluoride-containing compound. Although drug-related periostitis has long been known, the association of lung transplant medication with periostitis was only recently introduced in the literature. To our knowledge, imaging findings have not been fully characterized in the radiology literature. Imaging features along with clinical history help to distinguish this benign condition from other disease entities. In this article, we review the current literature and illustrate the variety of imaging characteristics of this entity so that interpreting radiologists can make accurate diagnoses and avoid unnecessary work up.
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Aromatase inhibitors in recurrent ovarian endometriomas: report of five cases with literature review.
Lall Seal, S, Kamilya, G, Mukherji, J, De, A, Ghosh, D, Majhi, AK
Fertility and sterility. 2011;(1):291.e15-8
Abstract
OBJECTIVE To determine the role of the aromatase inhibitor letrozole in the treatment of recurrent ovarian endometrioma cases. DESIGN Nonrandomized proof of concept study. SETTINGS Outpatient tertiary-care center. PATIENT(S): Five premenopausal patients with documented ovarian endometriomas and chronic pelvic pain, all of whom were previously treated with surgery and medicine with unsatisfactory results. INTERVENTION(S): Ovarian endometriomas were diagnosed by biopsy after laparoscopic ovarian cystectomy and subsequently treated with hormones. After a 6-month washout of endometriosis hormone therapies, women took letrozole (2.5 mg), one tablet of 0.15 mg of desogestrel, and 0.03 mg of ethinyl estradiol, calcium (1,200 mg), and vitamin D3 (800 IU) daily for 6 months. MAIN OUTCOME MEASURE(S): Size of endometriomas (monitored by ultrasound), assessment of pelvic pain (by visual analog scale), and bone density (DEXA scan). RESULT(S): Disappearance of ovarian endometrioma and reduction in pelvic pain in all cases at the end of 6 months. The size of ovarian endometriomas was reduced after 3 months. Pain scores decreased only after 1 month of treatment and continued decreasing in each treatment month. Overall, no significant change in bone density was detected. CONCLUSION(S): Letrozole given with combined pills achieved complete regression of recurrent endometriotic cysts and pain relief in all cases.
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Hematopoietic recovery after administration of deferasirox for transfusional iron overload in a case of myelodysplastic syndrome.
OKABE, H, SUZUKI, T, OMORI, T, MORI, M, UEHARA, E, HATANO, K, UEDA, M, MATSUYAMA, T, TOSHIMA, M, QZAKI, K, et al
[Rinsho ketsueki] The Japanese journal of clinical hematology. 2009;(11):1626-9
Abstract
Deferasirox (DFX) is a newly developed oral iron chelator that enables effective chelation with once daily administration. We describe here a case of transfusional-iron overloaded patient who experienced hematopoietic recovery after DFX administration. A 75-year-old woman with iron overload, who had been diagnosed with MDS (RCMD) and had received a transfusion of red blood cells and platelets regularly for 3 years, enrolled in the phase I clinical trial of ICL670 (DFX) in Japan. DFX administration steadily decreased her serum ferritin levels and chelated overloaded iron effectively. Interestingly, a year after initiation of the trial, she needed fewer blood transfusions, and no more transfusions after the 17th month of the trial. Even after suspending transfusions, her hemoglobin level and platelet count increased continuously, and she now has stable disease without blood transfusions. She has not received any specific treatment for MDS during this period. Examination of the bone marrow aspirates in the 35th month revealed dysplastic cells, indicating no remarkable change in the state of MDS. This case suggests that excess iron hampers hematopoiesis and that adequate iron chelation may improve hematological data in some iron-overloaded patients.