Case Reports

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  • J. G. Hengstler
    Leibniz Research Centre for Working Environment and Human Factors
    Ardeystr. 67
    D-44139 Dortmund
    Germany
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    Orofacial manifestations of achondroplasia
    (2012-09-19) Kaushik, Atul; Kumar, Munish; Rohilla, Smriti; Tanwar, Renu; Vinod, V.C.
    Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control requires special precautions during dental management. The current case report highlights the orofacial manifestations of Achondroplasia in a young pediatric patient, along with the multidisciplinary treatment (including the dental treatment) done for the patient which also might help the general practitioners in better understanding of the condition.
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    Successful treatment of acute kidney injury secondary to haeme nephropathy in paroxysmal nocturnal haemoglobinuria with alkaline diuresis
    (2012-09-19) Das, S.; Fadilah, S.A.W.; Sakthiswary, R.
    Paroxysmal nocturnal haemoglobinuria (PNH) also known as ‘Marchiafava Micheli syn-drome’ is a rare condition which can lead to both acute and chronic forms of renal failure through renal tubular haemosiderin deposition. A 45-year-old lady with underlying PNH, pre-sented with complaints of fever, productive cough followed by dark coloured urine. Investiga-tions revealed pancytopenia with a markedly raised creatinine from her baseline (from 65 mmol/L to 385 mmol/L) consistent with acute kidney injury (AKI). Renal biopsy con-firmed the diagnosis of haeme nephropathy. The renal impairment improved rapidly and nor-malised over a period of 5 days with alkaline diuresis (AD). The patient did not require hae-modialysis unlike most other reported cases of AKI secondary to haeme nephropathy in PNH. This is the second reported case of AKI in PNH which was successfully treated with AD alone emphasizing the role of AD as a promising therapeutic strategy in this condition.
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    Spectral karyotyping reveals a comprehensive karyotype in an adult acute lymphoblastic leukemia
    (2012-09-19) Da, Wan Ming; Fan, Hui; Guo, Bo; Li, Su Xia; Lu, Xue Chun; Zhu, Hong Li
    Cytogenetic abnormalities are frequently detected in patients with acute lymphoblastic leu-kemia (ALL). Comprehensive karyotype was related to poor prognosis frequently in ALL. We present a comprehensive karyotype in an adult ALL by spectral karyotyping (SKY) and R-banding. SKY not only confirmed the abnormalities previously seen by R-banding but also improved comprehensive karyotype analysis with the following result 47,XY,+9, ins(1;5)(q23;q23q34) t(6;7)(q23;p13). Our report demonstrated that SKY is able to provide more information accurately for prediction of disease prognosis in adult ALL with compre-hensive karyotype.