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  • ISSN: 2373-9819
    Volume 3, Issue 3
    Case Report
    Pedro T. Mota*, Rui Candido and Carlos Pintado
    Abstract Alkaptonuria is a rare metabolic autosomal recessive disease, caused by the lack of the homogentisic acid (HGA) oxidase, resulting in the accumulation of HGA in connective tissues, conferring them a dark-bluish discoloration known as ochronosis. It is a progressive condition, causing degenerative alterations of weight-bearing joints.
    We report the case of a 67 year old woman, with pain in the left knee and clinical and radiological evidence of knee osteoarthritis, who underwent cemented total knee arthroplasty. During surgery, black discoloration of cartilage was observed. Histologic evaluation suggested alkaptonuria, confirmed upon detection of high levels of HGA in urine.
    Alkaptonuria is usually asymptomatic until the development of ochronotic arthropathy and its discovery is often a finding during a joint replacement. There is no specific therapy for alkaptonuria and its treatment is symptomatic and based on osteoarthritis management. When conservative treatment can no longer mitigate symptomatology and joint replacement should be done.
    Uzair B. Chaudhary*
    Abstract We report an unusual case of a 25 year-old male with Burkitt's like disease associated with Primary Effusion Lymphoma (PEL), who was negative for HIV, HHV8, HCV, and EBV. The pleural effusion contained lymphoma cells with B-cell lineage and c-myc gene rearrangement. The patient had a rapidly progressive and fatal course and died from tumor lysis syndrome. This is the second reported case in the literature of such unique characteristics. Further understanding of the molecular and pathogenetic mechanisms underlying this disease is warranted.
    Turrado Sanchez E*, Miguez Alvarez L, Solar Vilarino I, Ariza Cobas M, Alfonsin Somoza G, Barros Angueira F and Macia Cortiñas M
    Abstract In this paper we present the first case of prenatal diagnosis in a 20-week-old fetus, without apparent ultrasound abnormalities, of an interstitial "de novo" 6p 12.3-21.2 duplication with a size of 13 Mb. The chromosomal abnormality was discovered prenatally by karyotype and then characterized using SNP arrays in amniotic fluid cells. The clinical characteristics described for this type of alteration are: low birth weight, psychomotor retardation, prominent forehead, microcephaly due to craniosynostosis, flat occiput, microstomia, thin lips, malformed, low-set ears and thin and sparse hair, heart disease, hemangiomas and proteinuria. Unlike the cases published so far, which were all diagnosed postnatally, no major morphological abnormalities were observed from ultrasound exams or fetal autopsy. This fact is probably related to the gestational age at diagnosis (20 weeks), an age at which the most frequent clinical characteristics described in the literature have not yet developed. This is the first case of an interstitial "de novo" 6p 12.3-21.2 duplication diagnosed prenatally and characterized at the molecular level. Our observation emphasizes the importance of using SNP arrays for prenatal diagnosis, even in cases where the ultrasound screening is normal.
    Hasan Basri Sezer*, Mehmet Ali Talmac, Raffi Armagan, Osman Tugrul Eren
    Abstract Stress fracture in non-weight bearing bones is uncommon. Complete stress fracture of both forearm bones without overt risk factors is a very rare condition. This report presents the case of a 68-year-old female patient with displaced stress fracture of both bones of forearm. The fractures were treated with open reduction and plate fixation. To our knowledge this is the first case in the literature presenting with complete stress fracture of both forearm bones in the absence of intrinsic risk factors. Awareness of stress fractures of forearm may prevent displacement and progression to complete fractures..
    Erica Heiman* and Craig Keenan
    Abstract Back pain is an exceedingly common complaint in primary care medicine. When conservative therapy for acute lower back pain fails, clinicians may be faced with a diagnostic dilemma. We present a case of osteomyelitis of the spine in a patient who presented with a seemingly-uncomplicated case of acute lower back pain. MRI eventually revealed multiple spinal lesions consistent with osteomyelitis. Cultures revealed the etiologic agent to be Eikenella corrodens, a gram negative facultative anaerobe that is part of the normal oropharyngeal flora and very uncommonly causes spinal infections. When conservative therapy for back pain fails, clinicians should aggressively seek answers. Osteomyelitis of the spine should be considered in the differential diagnosis, even for patients without underlying risk factors.
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