Jose Antonio Fernandez Villameytide

Centro Médico de Asturias, Oviedo, Asturias, Spain

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Publications (5)5.14 Total impact

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    ABSTRACT: Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself.
    American Journal of Medical Genetics Part A 09/2011; 155A(11):2617-25. · 2.30 Impact Factor
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    ABSTRACT: Paragangliomas (PGLs) are rare tumors arising either from sympathetic or parasympathetic-associated chromaffin tissue. PGLs can occur either sporadically or as part of a hereditary syndrome. Sympathetic head and neck PGLs are extremely rare tumors and only a few cases have been reported to date. We report the pedigree of a patient with a head and neck PGL arising from the right sympathetic trunk. SDHD mutation analysis was performed using standard sequencing, multiplex ligation-dependent probe amplification, chromosome 11-specific comparative genome hybridization, and long-range/short-range polymerase chain reaction (PCR) approaches. A previously unreported chromosome 11q deletion encompassing 5 annotated genes (SDHD, DLAT, PIH1D2, C11Orf57, and TIMM8B) was detected in the proband. PGL families considered "mutation-negative" may be attributable to large gene deletions not detectable by standard sequencing methods. Therefore, deletion analysis should be offered to families or individuals at risk for hereditary PGLs.
    Head & Neck 03/2010; 33(8):1233-40. · 2.83 Impact Factor
  • R Gómez Illán, J A Fernández Villameytide, D Barettino Coloma, J Longo Areso
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    ABSTRACT: Popliteal artery entrapment syndrome is a cause of lower limb claudication and ischemia in young adults. This syndrome is due to extrinsic arterial compression secondary to a congenital anomaly in the anatomic relations between the popliteal artery and its neighboring musculotendinous structures. Popliteal artery entrapment leads to chronic, progressive vascular microtrauma with atheromatosis and thrombus formation. Accurate early diagnosis is crucial to enable appropriate surgical planning and avoid complications.
    Radiología 03/2010; 52(3):258-62.
  • R. Gómez Illán, J. A. Fernández Villameytide, D. Barettino Coloma, J. Longo Areso
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    ABSTRACT: Popliteal artery entrapment syndrome is a cause of lower limb claudication and ischemia in young adults. This syndrome is due to extrinsic arterial compression secondary to a congenital anomaly in the anatomic relations between the popliteal artery and its neighboring musculotendinous structures. Popliteal artery entrapment leads to chronic, progressive vascular microtrauma with atheromatosis and thrombus formation. Accurate early diagnosis is crucial to enable appropriate surgical planning and avoid complications.
    Radiología. 01/2010; 52(3).
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    ABSTRACT: PURPOSE/AIM The purpose of this exhibit is: To review the technical key points of split-bolus MDCT urography. To learn practical tips in postprocessing of MDCT urography. To exhibit imaging findings in five different clinical settings: haematuria, pre-treatment urolithiasis evaluation, infection, congenital anomalies and trauma. CONTENT ORGANIZATION Split-bolus MDCT urography technique. Evaluation and postprocessing techniques, with special emphasis in the use of MIP, VR and virtual cystoscopy. Imaging findings. Haematuria: Renal cell carcinoma and urothelial tumors (pyelocaliceal, urether and bladder). Evaluation of urolithiasis prior to therapeutical management. Infection. Congenital anomalies. Traumatic lesions. SUMMARY The major teaching points of this exhibit are: MDCT urography is a valuable image technique for the complete evaluation of kidney’s parenchyma, renal collecting system, urethers and bladder. An accurate use of postprocessing techniques gives relevant information in order to guide treatment. To exhibit relevant imaging findings in different clinical settings.
    Radiological Society of North America 2009 Scientific Assembly and Annual Meeting;

Publication Stats

15 Citations
5.14 Total Impact Points

Institutions

  • 2011
    • Centro Médico de Asturias
      Oviedo, Asturias, Spain