J F Restrepo

National University of Colombia, Μπογκοτά, Bogota D.C., Colombia

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Publications (23)31.55 Total impact

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    ABSTRACT: C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. This work has investigated the possible association between PTPN22 C1858T (rs2476601) polymorphism and rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) in a Colombian population. A case-control study included 1,042 samples from 413 RA, 94 SLE and 101 SSc patients and 434 healthy controls. The TaqMan allele discrimination assay was used for genotyping. The case-control study provided robust evidence of association between allele 1858T and RA (p=5E-05), as well as between 1858T and SLE (p=0.004). These observations were confirmed for both diseases by meta-analysis (p=2E-04, pooled OR 1.9; 1.3-2.7 95% CI for RA; p<0.0001, pooled OR 2.8, 1.8-4.5 95% CI for SLE). No significant association was observed between 1858T and SSc (p=0.98, OR 1.11, 0.46-2.65 95% CI). The study suggested that the PTPN22 1858T variant influences RA and SLE genetic background but not that of SSc in the Colombian population.
    Full-text · Article · May 2012 · Clinical and experimental rheumatology
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    ABSTRACT: Gouty panniculitis is an unusual clinical manifestation of gout, characterized by the deposition of monosodium urate crystals in the lobular hypodermis. Its pathogenesis is poorly understood but is associated with hyperuricemia, and the clinical presence of indurate subcutaneous plaques, which may precede or appear subsequently to the articular clinical expression of tophaceous gout. The aim of this report is to describe the clinical characteristics and potential risk factors for the development of lobular panniculitis secondary to chronic tophaceous gout. This is a retrospective clinical review of 6 patients with gouty panniculitis seen at the rheumatology service at the National University of Colombia. All cases fulfill diagnostic criteria for gout. The presenting clinical characteristics of each case were analyzed. All 6 patients were men, with an average age of 26 years. Two patients initially presented with cutaneous manifestations, and in the remainder 4 joint involvements preceded the cutaneous manifestations. Articular involvement first developed in lower extremities, of intermittent nature, and subsequent occurrence of polyarthritis of upper and lower extremities. A positive family history of gout was observed in half of the patients. Smoking and high alcohol intake were relevant risk factors. On physical examination, all exhibited the presence of erythematous, irregular surface, deep indurate subcutaneous plaques. Biopsy of skin and deep dermis including panniculus revealed the presence of granulomatous inflammatory changes with deposition of amorphous eosinophilic material surrounded by palisading histocytes and lymphocytes. Characteristic negative birefringent monosodium urate crystals were observed in the synovial fluid of patients with arthritis. All patients exhibited high levels of serum uric acid and were non-complaint to treatment with allopurinol, NSAIDs, and colchicine. Gouty panniculitis should be considered in the differential diagnosis of panniculitis, especially in the presence of high levels of uric acid. It is usually observed in the third decade of life and may appear prior to the inflammatory articular manifestations of tophaceous gout.
    No preview · Article · Jun 2011 · Rheumatology International
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    ABSTRACT: Pulmonary arterial hypertension (PAH) is the major complication of systemic sclerosis (SSc) and the main cause of morbi-mortality. It is important to find predictors for this vascular problem. The objective of this study was to determine the serum levels of different biomarkers in patients with SSc and secondary PAH and to compare them with those of healthy control subjects to define their potential role as predictors of PAH. Cross-section study in which 20 patients with SSc were included. PAH was diagnosed by echocardiogram. The optical densities of endoglin (Eng), endothelin-1 (ET-1), platelet-derived growth factor (PDGF), tumoral necrosis factor alpha (TNF-α), Transforming growth factor beta 2 (TGF-β2) and Interleukin 8 (IL-8) were measured in 20 patients with SSc and 20 healthy controls matched by sex. The differences found between the group of patients with PAH and the control group were (mean or median and range): ET-1 (0.20; 0.10–0.35 vs. 0.16; 0.10–0.24; P=0.0276), IL-8 (195.7; 45.5–504 vs. 118.9; 23–299.5; P=0.0364), TNF-α (0.70; 0.50–0.96 vs. 0.48; 0.38–0.65; P=1×10−8) and Eng (0.95; 0.57–1.72 vs. 0.75; 0.57–0.89; P=0.0028). A correlation was found between the progression of the disease and the development of Raynaud’s phenomenon (Rho: 0.67 and P=0.0011), ET-1 and Eng (Rho: 0.53 and P=0.0196), and between IL-8 and Eng (Rho: 0.68 and P=0.0019). In conclusions, the elevation of the serum levels of Eng and ET-1 could represent a useful tool as PAH biomarkers. Nevertheless, the diagnostic value of these markers needs to be determined by prospective studies.
    No preview · Article · Jul 2009 · Rheumatology International
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    ABSTRACT: Idiopathic systemic vasculitis represents a group of clinical entities having non-specific etiology with the common characteristic of acute or chronic inflammatory compromise of the small and large vessels walls, associated with fibrinoid necrosis. To describe the most common inflammatory vascular diseases in a long historical cohort of patients from San Juan de Dios Hospital located in Bogota, Colombia using two different systems and a clinical histopathological correlation format, and to make a comparison between them. We reviewed all previously ascertained cases of vasculitis confirmed by biopsy processed between 1953 and 1990, and systematically collected data on all new cases of vasculitis from 1991 to 1997 at the Hospital San Juan de Dios (Bogota-Colombia). The cases were classified in accordance with the Chapel Hill Consensus criteria, and the system proposed by J.T. Lie. Of 165,556 biopsy tissue specimens obtained during this period from our hospital, 0.18% had vasculitis, perivasculitis or vasculopathy. These included 304 histopathological biopsies from 292 patients. Cutaneous leukocytoclastic vasculitis (64 histological specimens) was the most frequently encountered type of "primary" vasculitis followed by thromboangiitis obliterans (38 specimens), and polyarteritis nodosa (24 specimens). Vasculitis associated with connective tissue diseases (33 specimens) and infection (20 specimens) were the main forms of secondary vasculitis, a category that was omitted from the Chapel Hill consensus report. We found that 65.8% of our histopathological diagnoses could not be classified according to the Chapel Hill classification, and 35.2% could not be classified according to the classification of Lie. Only 8.9% of cases remained unclassified by our system after clinical and histological correlation. Current vasculitis classification schemes are designed for classification, rather that diagnosis of disease and do not adequately address some common forms of inflammatory vascular diseases, including those of infectious etiology and unusual etiology seen in clinical practice. Based on our clinical experience, we suggest a classification outline which practitioners can use which emphasizes correlation of the clinical picture to the histopathology findings for diagnosis and therapy, which may promote better clinical practice and standardization for clinical trials.
    Full-text · Article · Mar 2009 · Journal of Autoimmune Diseases
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    ABSTRACT: Considering the significant morbidity and mortality of pulmonary arterial hypertension (PAH) in patients with systemic sclerosis (SSc) and the lack of precise information on disease in Latin America, we investigated the clinical and laboratory characteristics associated with PAH in Colombian patients with SSc and review the literature. This multicenter study included patients followed at 5 rheumatology units that were systematically assessed using a pretested questionnaire on clinical and immunological variables, focusing on PAH. Conditional logistic regression was employed to assess association between PAH and specific clinical characteristics. A systematic review of the literature was performed through electronic databases. Of a total of 349 patients with SSc, 61 (17%) met the criteria for PAH. Pulmonary fibrosis [adjusted odds ratio (AOR) 7.37, 95% CI 3.67-14.81, p < 0.0001], microstomia (AOR 3.3, 95% CI 1.70-6.28, p < 0.0001), gastroesophageal reflux (AOR 2.41, 95% CI 1.31-4.43, p = 0.005), dysphagia (AOR 2.7, 95% CI 1.49-4.77, p = 0.001), hyperpigmentation (AOR 2.15, 95% CI 1.11-4.16, p = 0.02), and hypopigmentation (AOR 2.4, 95% CI 1.26-4.64, p = 0.008) were the most prevalent clinical characteristics associated with PAH, while anemia (AOR 5.4, 95% CI 1.98-14.93, p = 0.001) was observed as the unique laboratory risk factor. Association between subtypes of SSc and PAH was not observed. Significant differences in both clinical and laboratory data were observed among different series. PAH may be a frequent complication of SSc in the Colombian population regardless of disease subtype. The identified clinical and laboratory risk factors might assist earlier diagnosis and guide decisions on therapeutic interventions on this critical complication of SSc. The reasons underlying the reported divergences among patients from different ethnicities are not fully understood, but it is most likely that both genetic and environmental factors are responsible for them.
    Full-text · Article · Feb 2008 · The Journal of Rheumatology
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    Alain Bautista · José Felix Restrepo · Eric L Matteson · Antonio Iglesias
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    ABSTRACT: Nodules are commonly found in patients with rheumatic diseases, most often in rheumatoid arthritis, but also in other conditions such as systemic lupus erythematosus (SLE). Rheumatoid nodulosis, however, is less frequent and not an established feature of SLE. We describe a patient with SLE and rheumatoid nodulosis, reviewing the literature and sug-gest that this manifestation falls into the spectrum of rhupus.
    Preview · Article · Feb 2007 · Current Rheumatology Reviews
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    ABSTRACT: To describe the occurrence of erosive arthropathy in systemic lupus erythematosus (SLE) and its relationship to anti-CCP antibodies. Retrospective medical record review of a case series of five female patients with SLE and erosive arthropathies. The initial disease presentation in all patients was a polyarthritis. Anti-CCP antibodies were detected in 4 out of 5 (80%) patients, 2 of whom had a positive rheumatoid factor. Erosive arthritis was strongly associated with the presence of anti-CCP antibodies in these patients with SLE, who presented with polyarthritis. Anti-CCP in patients with SLE may be a marker of a more severe joint disease.
    No preview · Article · Jan 2007 · Clinical and experimental rheumatology
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    ABSTRACT: Background: Systemic sclerosis is a disease characterized by sclerosis of the skin, internal organs and vasculopathy. Articular manifestations are common, and include arthralgias, arthritis, and morning stiffness, which in some cases can be confused with rheumatoid arthritis (RA). Patients develop functional impairment and thickening of the skin including around the joints, with inflammation and fibrosis of tendon sheaths. However, articular inflammation is rare clinically, as is the development of articular erosions. Objective: To define the presence and characteristics of arthropathy in patients with scleroderma and distinguish it from RA. Methods: Case series of 106 Colombian patients with scleroderma evaluated between January 1998 and December 2004, of whom 5 had significant articular involvement and are the subject of this report. Results: All patients had the CREST variant of scleroderma. Their average age was 48.6 years (range 35-56). All had arthropathy affecting mainly the hands and feet. In the majority of cases the clinical picture resembled that of RA, with inflammation and subluxation of the metacarpophalangeal joints, and involvement of the feet with subluxation of the toes. Radiographs revealed joint space narrowing, subluxation, juxtaarticular osteopenia, carpal ankylosis and erosions. Rheumatoid factor was negative and antinuclear antibody (ANA) was positive with anticentromere antibodies in all patients. Conclusions: We conclude that there is a unique arthropathy of scleroderma which is due to inflammation and mechanical factors related to skin and periarticular involvement from the underlying disease. It is not due to coexisting RA. All of our cases had CREST variant scleroderma with erosive arthritis, negative rheumatoid factor, and positive ANA with centromere antibody. None fulfilled classification criteria for RA. This is a distinct subtype of scleroderma. Patients should be identified and treated promptly to avoid development of serious articular disease. The tendency to develop severe articular disease is likely immunogenetically linked.
    No preview · Article · Oct 2006 · Current Rheumatology Reviews
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    ABSTRACT: La osteomesopicnosis, junto a la picnodisostosis, osteodistrofia renal, hyperostosis con osteoesclerosis con aumento de la fosfatasa alcalina y osteopetrosis, forman parte de un grupo de enfermedades poco frecuentes, que se caracterizan por la osteoesclerosis, especialmente del esqueleto axial, con lesiones típicamente en forma de parches, comprometiendo además la pelvis, a nivel de los acetábulos, los bordes superiores e inferiores de los cuerpos vertebrales de la region lumbar y la región proximal de fémur y del húmero. Es de carácter benigno y heredada en forma autosómica dominante. La primera descripción de esta entidad la realizaron Simon, Cazalis, Dryll, et al en 1979. El nombre de la enfermedad fue propuesto por Maroteaux en 1980.En este artículo presentamos una breve descripción de las enfermedades óseas con osteoesclerosis, presentamos nuestra casuística de enfermedades con alteraciones morforradiológicas, describimos un caso de osteomesopicnosis asociado a litiasis renal y proponemos una clasificación para enfermedades osteoesclerosantes del esqueleto axial junto a un enfoque práctico para el diagnóstico diferencial de estas enfermedades.Osteomesopyknosis joined to the pycnodysostosis, renal osteodystrophia, hyperostosis with osteosclerosis with increase of the alkaline phosphatase and osteopetrosis, makes part of a group of not very frequent illnesses that are characterized by the osteosclerosis, especially of the axial skeleton, with lesions typically in form of patches, also committing the pelvis, at level of the acetabulums, the superior and inferior borders of the vertebral bodies of the lumbar region, the region femur proximal and of the humerus. It is of benign character and inherited in dominant autonomous form. The first description of this entity carried out it Simon, Cazalis, Dryll, et al in 1979. The name of the illness was proposed by Maroteaux in 1980.In this article we present a brief description of the bony illnesses with osteosclerosis, we present our casuistry of illnesses with morfo-radiological alterations, we describe a case of osteomesopyknosis associated to renal lithiasis and we propose a classification for illnesses osteosclerosants of the axial skeleton join to a practical focus for the differential diagnosis of these illnesses.
    Full-text · Article · Aug 2005 · Revista Española de Enfermedades Metabólicas Óseas
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    ABSTRACT: Osteomesopyknosis joined to the pycnodysostosis, renal osteodystrophia, hyperostosis with osteosclerosis with increase of the alkaline phosphatase and osteopetrosis, makes part of a group of not very frequent illnesses that are characterized by the osteosclerosis, especially of the axial skeleton, with lesions typically in form of patches, also committing the pelvis, at level of the acetabulums, the superior and inferior borders of the vertebral bodies of the lumbar region, the region femur proximal and of the humerus. It is of benign character and inherited in dominant autonomous form. The first description of this entity carried out it Simon, Cazalis, Dryll, et al in 1979. The name of the illness was proposed by Maroteaux in 1980. In this article we present a brief description of the bony illnesses with osteosclerosis, we present our casuistry of illnesses with morfo-radiological alterations, we describe a case of osteomesopyknosis associated to renal lithiasis and we propose a classification for illnesses osteosclerosants of the axial skeleton join to a practical focus for the differential diagnosis of these illnesses.
    No preview · Article · Jul 2005
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    ABSTRACT: Patients with Hashimoto thyroiditis may have neurologic manifestations that have been described in the literature for some decades now; these include psychiatric disorders, abnormal movements, and simulation of cerebrovascular events. Nuclear magnetic resonance (MRI) studies have revealed diffuse leukoencephalopathy in most cases. We describe a case having clinical manifestations simulating cerebrovascular events, together with cognitive alterations (a presentation already described in other patients). Among the 2 main forms of neurologic manifestations, the cognitive type, which is probably associated with endocrinologic alteration, may improve with hormone supplement. Those alterations simulating cerebrovascular events are most probably related to autoimmune vasculitis. The latter may improve with the administration of corticosteroids, which are proposed as treatment of this disorder.
    No preview · Article · Jan 2005 · JCR Journal of Clinical Rheumatology
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    G Quintana · E L Matteson · A Fernández · J F Restrepo · A Iglesias
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    ABSTRACT: Cutaneous polyarteritis nodosa (PAN) was first described by Lindberg in 1931. This initial description was followed by many case reports and series, including those of Díaz-Pérez and Winkelmann, who used a strict definition based on cutaneous involvement, and Chen and Daoud who classified the condition into three well differentiated groups. The cutaneous form of PAN is distinct from the systemic form due to its chronic, recurrent, benign nature, the absence of internal organ involvement, and the presence of inflammation in medium and small vessels of the deep dermis and panniculus. In the present article we report our findings for 12 patients with a variant of cutaneous PAN consisting of painful erythematous nodular lesions not preceded or followed by livedo reticularis, that were located exclusively on the lower third of the legs and responded slowly to treatment with corticosteroids and immunosuppressants.
    Preview · Article · Feb 2004 · Clinical and experimental rheumatology
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    ABSTRACT: Takayasu arteritis has been recognized in Colombia just recently, and so far we do not have any report concerning its presentation here. In this first report, some issues related to the presentation of the disease are indicated and compared with those found in the medical literature. No differences were found in age and sex. Most of the cases were diagnosed during an inactive phase of the disease with advanced manifestations due to vascular lesion which suggests the existence of some genetic factor influencing such a presentation, or may be the consequence of a delay in diagnosing the disease during initial and active stages due to not suspecting it. Comparing the vessels which are affected among other races and countries, we can find both differences and similarities. With the purpose of discovering the demographic, clinical, angiographic and laboratorial characteristics of Takayasu arteritis in Colombia, the present study was carried out by studying 35 clinical cases in different medical centers of the country.
    No preview · Article · Nov 1998 · International Journal of Cardiology
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    ABSTRACT: To know the clinical characteristics in the presentation of Buerger's disease in San Juan de Dios Hospital, Bogota, Colombia, between 1986 and 1996, and compare them with a previous series from the same Hospital and another reported in international literature; To determine the changes in the form of appearance of the disease. We reviewed the clinical information of 22 patients with diagnosis of Buerger's disease, observed between 1986 and 1993, and we added the information of the clinical histories of eight other patients with equal diagnosis, observed between 1994 and 1996 in our Unit. We observed 30 patients: 28 men (93%) and two women (7%), with a ratio M:F of 14:1, with an average age of 39+10 years (range from 18 to 52 years). Sixty percent were younger than 40 years and only the 10% were older than 50 years. The most frequent reasons for consultation were: pain in rest in the affected extremity, gangrene and ulceration in more than 50%. Raynaud's phenomenon in 30%, and the related surgical history in 40%. The pedal pulse was the most compromised followed by popliteal, poster or tibial and femoral. We did not observe the presence of thrombophlebitis. Eighty percent showed compromise of more than one extremity. All of them were active smokers. Three patients showed IgG anticardiolipine antibodies at high level. The clinical characteristics are similar to those reported, we find also a reduction of the disease diagnosis. It calls to our attention that no thrombophlebitis was found in the present series and the less compromise of the upper extremities with a frequent femoral compromise. All this points toward a change in the natural history of the disease.
    No preview · Article · Nov 1998 · International Journal of Cardiology

  • No preview · Article · Jan 1998 · Revista Española de Enfermedades Metabólicas Óseas
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    ABSTRACT: Osteopoikilosis (O), melorheostosis (M), osteopathia striata (OS) and pachydermoperiostosis (P) are from the group of condensans bone diseases in which there are reported cutaneous abnormalities. There are no studies in the literature of these diseases with focus centered in the associated cutaneous manifestations. We review the records from two medical centers in Colombia and found 15 half blood patients (8 with cutaneous abnormalities) who fulfilled diagnostic criteria for O, M, OS and P, with a mean age of 23 years (range 5-40), 5 men and 10 women, distributed in this way: osteopoikilosis 6 women, 4 with cutaneous abnormalities, 2 with lenticular dermatoses who had little ovoid yellow skin lesions in the posterior aspect of hands and knee, and 2 with linear scleroderma who were taken from 25 patients with linear scleroderma who are in a prospective study; melorheostosis 5 patients, 2 men and 3 women, 2 with cutaneous changes with induration and oedema in the subcutaneous tissue above the osseous lesion; pachydermoperiostosis in 2 men with pachydermia and cutis verticis gyrata; ostopathia striata in 2 patients, none with cutaneous abnormalities. There were no other skeletal or cutanous abnormalities with the exception of the association of osteopoikilosis with chondrocalcinosis. We propose 2 subgroups, one of O and OS with osseous abnormalities in the methaphysis and epiphysis, skin changes and a autosomic dominant trait, and the other of M and P with abnormalities in the periostum and subcutaneous tissue which appear more in a sporadic manner. We insist in the no existence of bone dysplasia and rise the question of a ecto-mesodermic dystrophy which could have a multifactorial origin.
    No preview · Article · Jan 1997
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    ABSTRACT: Septic arthritis is an unusual complication of Sporothrix schenckii infection. Its diagnosis can be very difficult, mainly because of low clinical suspicion, special media needed for its culture, and low density of the organism in biopsy specimens. We present a case of a woman with disseminated Sporothrix schenckii infection and polyarthritis. Although rare, this wide dissemination of fungus and polyarthritis occurred in an initially immunocompetent patient. Steroid therapy given for suspected vasculitis might have worsened her condition.
    No preview · Article · Sep 1996 · JCR Journal of Clinical Rheumatology
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    ABSTRACT: Septic arthritis is an unusual complication of Sporothrix schenckii infection. Its diagnosis can be very difficult, mainly because of low clinical suspicion, special media needed for its culture, and low density of the organism in biopsy specimens. We present a case of a woman with disseminated Sporothrix schenckii infection and polyarthritis. Although rare, this wide dissemination of fungus and polyarthritis occurred in an initially immunocompetent patient. Steroid therapy given for suspected vasculitis might have worsened her condition.
    No preview · Article · Aug 1996
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    ABSTRACT: Gonadal dysgenesis, or Turner's syndrome, is a common X chromosome genetic disorder with characteristic clinical and radiological features. Psoriasis is a common skin disorder that can be associated with arthritis. This report describes a 34-year-old woman with both diseases. Radiological features of Turner's syndrome are described with illustrations of how some changes might be confused with those of rheumatic disease. Although psoriatic arthritis has not been previously reported, other autoimmune diseases have been associated with Turner's syndrome.
    No preview · Article · Mar 1995 · Journal of clinical rheumatology: practical reports on rheumatic & musculoskeletal diseases
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    ABSTRACT: Gonadal dysgenesis, or Turner's syndrome, is a common X chromosome genetic disorder with characteristic clinical and radiological features. Psoriasis is a common skin disorder that can be associated with arthritis. This report describes a 34-year-old woman with both diseases. Radiological features of Turner's syndrome are described with illustrations of how some changes might be confused with those of rheumatic disease. Although psoriatic arthritis has not been previously reported, other autoimmune diseases have been associated with Turner's syndrome.
    No preview · Article · Feb 1995 · JCR Journal of Clinical Rheumatology