ABSTRACT
Connective tissue disease (CTD) are closely related to liver abnormality. CTD can affect the liver causing various degrees of liver injury, coexist with other liver diseases, especially autoimmune liver disease (ALD). Medications for CTD can also lead to liver injury or reactivate the hepatitis B virus. CTD patients can also be positive for ALD-related autoantibodies without corresponding manifestation; and vis versa. The diagnosis and differential diagnosis should be made on integrating clinical presentation, laboratory, imaging, and histological studies, not solely relying on autoantibody positivity.
Subject(s)
Humans , Autoantibodies , Autoimmune Diseases/diagnosis , Connective Tissue Diseases/diagnosis , Diagnosis, Differential , LiverABSTRACT
INTRODUCCIÓN: La manifestación extramuscular de las miopatías inflamatorias idiopáticas (MII) es la enfermedad pulmonar intersticial (EPI) y el diagnóstico se basa en autoanticuerpos séricos. Los nuevos anticuerpos específicos y asociados a MII han ayudado a identificar nuevas entidades clínicas en el espectro de MII. El objetivo de este estudio es evaluar la contribución diagnóstica de un panel de anticuerpos de miositis (PM) en una cohorte de pacientes chilenos con EPI sin una enfermedad del tejido conectivo (ETC) definitiva. MATERIALES Y MÉTODOS: A partir de enero de 2017 se realizó un panel de miositis a 111 pacientes consecutivos con EPI y sospecha de ETC, pero sin un diagnóstico definitivo a través de otra herramienta diagnóstica, en el programa de Pulmón-Reumatológico del Instituto Nacional del Tórax, Santiago, Chile. Se compararon las características basales clínicas y serológicas de los pacientes que se asociaban más frecuentemente a la probabilidad de tener un panel positivo. RESULTADOS: El PM fue positivo en 56 de 111 pacientes. El síndrome antisintetasa (SAS) fue el diagnóstico más frecuente. Los anticuerpos más frecuentes fueron Ro-52, PM / Scl-75 y Ku. Las variables más frecuentes en el grupo PM(+) fueron la presencia del Raynaud, miositis, manos de mecánico, los anticuerpos Ro y La positivos, la presencia de un patrón combinado de neumonía intersticial inespecífica y neumonía organizada en la tomografía computarizada de tórax. CONCLUSIONES: la incorporación del PM nos ha ayudado a mejorar nuestra precisión diagnóstica en pacientes con EPI / ETC. Presentamos elementos clínicos y serológicos que perfeccionan el rendimiento de la prueba.
INTRODUCTION: The most common extramuscular manifestation of the idiopathic inflammatory myopathies (IIM) is interstitial lung disease (ILD) and the diagnosis is based on serum autoantibodies. The new specific and associated antibodies to IIM have helped to identify new clinical entities in the spectrum of IIM. The objective of this study is to evaluate the diagnostic contribution of a myositis antibodies panel (MP) in a cohort of Chilean patients with ILD without a definitive connective tissue disease (CTD). MATERIALS AND METHODS: Starting on January 2017 we performed a MP to 111 consecutive patients with ILD and suspected CTD but without a definitive diagnosis through another diagnostic tools in the Lung-Rheumatological Program at the "Instituto Nacional del Tórax", Santiago, Chile. The clinical and serological baseline characteristics of the patients that were most frequently associated with the probability of having a positive panel were compared. RESULTS: The MP was positive in 56 of 111 patients. Anti synthetase syndrome (ASS) was the most prevalent diagnosis. The most frequent antibodies were Ro-52, PM/Scl-75 and Ku. The most frequent variables in the positive MP group were the presence of Raynaud's phenomenon, myositis, mechanic's hands, positive Ro and La antibodies and the presence of combined pattern of nonspecific interstitial pneumonia and organizing pneumonia in chest computed tomography scan. CONCLUSIONS: The incorporation of the MP has helped us to improve our diagnostic precision of patients with CTD/ILD. We present clinical and serological elements that refine the performance of the test.
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Autoantibodies/analysis , Lung Diseases, Interstitial/diagnosis , Myositis/diagnosis , Prospective Studies , Lung Diseases, Interstitial/immunology , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/immunology , Myositis/immunologyABSTRACT
Para el diagnóstico certero de fibrosis pulmonar idiopática (FPI) es de vital importancia la presencia de un patrón tomográfico definitivo de neumonía intersticial usual (NIU), en un contexto clínico adecuado. El interrogatorio dirigido, el uso de cuestionarios validados, una evaluación reumatológica acuciosa y exámenes complementarios son importantes para descartar causas secundarias de fibrosis pulmonar como neumonitis por hipersensibilidad (NHS), enfermedades del tejido conectivo (ETC), toxicidad por drogas y algunas neumoconiosis que pueden imitar el patrón radiológico y muchas veces dificultar un diagnóstico adecuado de FPI.
For the accurate diagnosis of idiopathic pulmonary fibrosis (IPF), the presence of a definitive tomographic pattern of usual interstitial pneumonia (UIP) is of vital importance, in an appropriate clinical context. Targeted interrogation, the use of valid questionnaires, an acute rheumatologic evaluation and complementary examinations are important to rule out secondary causes such as hypersensitivity pneumonitis (HP), connective tissue diseases (CTD), drug toxicity and some pneumoconiosis that can mimic the radiological pattern and often hinder a clear diagnosis of IPF.
Subject(s)
Humans , Idiopathic Pulmonary Fibrosis/diagnosis , Pneumoconiosis/diagnosis , Connective Tissue Diseases/diagnosis , Diagnosis, Differential , Alveolitis, Extrinsic Allergic/diagnosisABSTRACT
Las Enfermedades del Tejido Conectivo (ETC) comprenden un grupo heterogéneo de patologías multisistémicas de origen autoinmune. La Enfermedad pulmonar intersticial (EPI) asociada a ETC (EPI-ETC) es frecuente y empeora el pronóstico de la ETC. Las EPI-ETC representan aproximadamente 15-30% del total las EPI y se presentan con las mismas formas histopatológicas y radiológicas descritas para las EPI idiopáticas. Esto pone en evidencia la importancia de incorporar en forma rutinaria a reumatología en el comité multidisciplinario para el diagnóstico y manejo de las EPI.
Connective Tissue Diseases (CTD) comprise a heterogeneous group of multisystemic pathologies of autoimmune origin. Interstitial lung disease (ILD) associated with CTD (CTD-ILD) is common and and it worsens the prognosis of CTD. CTD-ILD represent approximately 15-30% of the universe of ILD and have the same histopathological and radiological forms described for idiopathic ILD. This highlights the importance of routinely incorporate a rheumatologist into the multidisciplinary committee for the diagnosis and management of ILD.
Subject(s)
Humans , Rheumatic Diseases/complications , Connective Tissue Diseases/complications , Idiopathic Pulmonary Fibrosis/diagnosis , Idiopathic Pulmonary Fibrosis/immunology , Rheumatic Diseases/diagnosis , Connective Tissue Diseases/diagnosisABSTRACT
Interstitial lung diseases are a broad, diverse, challenging group of diseases, most of them chronic whose prognosis is not good. In the last two decades there have been considerable advances in the knowledge of the epidemiology, pathological and genetic bases and treatment of several of these diseases. This article summarizes and presents updated information about their classification, new knowledge on genetics and treatments in idiopathic pulmonary fibrosis, advances in the diagnosis and management of hypersensitivity pneumonitis and a review of the broad spectrum of interstitial diseases associated with connective tissue diseases. Several clinical trials are currently underway whose results will be available in the coming years and will provide more information and tools to improve the treatment of these patients.
Subject(s)
Lung Diseases, Interstitial/classification , Lung Diseases, Interstitial/diagnosis , Prognosis , Connective Tissue Diseases/diagnosis , Diagnosis, Differential , Idiopathic Pulmonary Fibrosis/diagnosis , Alveolitis, Extrinsic Allergic/diagnosisABSTRACT
Vasculitides comprise a heterogeneous group of autoimmune disorders, occurring as primary or secondary to a broad variety of systemic infectious, malignant or connective tissue diseases. The latter occur more often but their pathogenic mechanisms have not been fully established. Frequent and varied central and peripheral nervous system complications occur in vasculitides and connective tissue diseases. In many cases, the neurological disorders have an atypical clinical course or even an early onset, and the healthcare professionals should be aware of them. The purpose of this brief review was to give an update of the main neurological disorders of common vasculitis and connective tissue diseases, aiming at accurate diagnosis and management, with an emphasis on pathophysiologic mechanisms.
As vasculites são um grupo heterogêneo de doenças autoimunes primárias ou secundárias a uma grande variedade de doenças infecciosas sistêmicas, malignas ou do tecido conjuntivo. Estas últimas são as que ocorrem com mais frequência, porém os mecanismos patogênicos ainda não foram plenamente determinados. Diversas e frequentes complicações do sistema nervoso central e periférico ocorrem nas vasculites e doenças do tecido conjuntivo. Em muitos casos, os distúrbios neurológicos têm evolução clínica atípica ou mesmo início precoce, ao que todos os profissionais de saúde devem estar cientes. O objetivo desta breve revisão foi atualizar os principais distúrbios neurológicos da vasculite comum e das doenças do tecido conjuntivo, visando ao diagnóstico e ao tratamento corretos, com ênfase nos mecanismos fisiopatológicos.
Subject(s)
Humans , Autoimmune Diseases/complications , Connective Tissue Diseases/complications , Vasculitis/complications , Arthritis, Rheumatoid/complications , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/physiopathology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/physiopathology , Behcet Syndrome/complications , Behcet Syndrome/diagnosis , Behcet Syndrome/physiopathology , Churg-Strauss Syndrome/complications , Churg-Strauss Syndrome/diagnosis , Churg-Strauss Syndrome/physiopathology , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/physiopathology , Giant Cell Arteritis/complications , Giant Cell Arteritis/diagnosis , Giant Cell Arteritis/physiopathology , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/diagnosis , Granulomatosis with Polyangiitis/physiopathology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/physiopathology , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/diagnosis , Polyarteritis Nodosa/physiopathology , Scleroderma, Systemic/complications , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/physiopathology , Sjogren's Syndrome/complications , Sjogren's Syndrome/diagnosis , Sjogren's Syndrome/physiopathology , Takayasu Arteritis/complications , Takayasu Arteritis/diagnosis , Takayasu Arteritis/physiopathology , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/physiopathology , Vasculitis/diagnosis , Vasculitis/physiopathologyABSTRACT
The capillaroscopy is an easy and non invasive tool that allows an accurate study of the microcirculation. It has gained over the years a space in the rheumatology community, being currently a fundamental method for the diagnosis and management of connective tissue disease (CTD), in particular systemic sclerosis. Currently it is possible to demonstrate a correlation between the microvascular alterations and the diagnosis and prognosis of the ETC. In this point of view work we provide a practical description of the utility of capillaroscopy in the ETC describing also the characteristic pathologic findings and mentioning technical details for a correct execution of the examination...
La capilaroscopia es una técnica sencilla y no invasiva que permite un correcto y minucioso estudio de los vasos de la microcirculación. Ésta ha ido ganando a lo largo de los últimos años un espacio en la comunidad reumatológica hasta el punto de ser, actualmente, considerada un método fundamental para el diagnóstico y manejo de las enfermedades del tejido conectivo (ETC), en particular la esclerosis sistémica. Actualmente es posible establecer y demostrar una correlación entre las alteraciones capilaroscópicas y el diagnóstico y pronóstico de las ETC. En este trabajo de punto de vista se provee una descripción práctica de la utilidad de la capilaroscopia en las ETC, describiendo los hallazgos patológicos característicos y mencionando detalles técnicos para una correcta ejecución del examen...
Subject(s)
Humans , Raynaud Disease/diagnosis , Raynaud Disease/physiopathology , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/physiopathology , Microscopic Angioscopy/methods , Capillaries/pathology , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/physiopathology , MicrocirculationABSTRACT
Videocapillaroscopy (VCP) is a consolidated imaging technique that helps the clinician in the assessment of connective tissue disorders (CTD). Their findings have demonstrated predictive value, and a potential role in the differential diagnosis and treatment monitoring of CTD. To date, the scleroderma pattern has been described mainly in CTD. We describe two cases in which the presence of scleroderma pattern, evidenced by ATP, is not only present in CTD.
La videocapilaroscopia (VCP) es una técnica de imagen fácil, inocua y sencilla que se ha consolidado como ayuda diagnóstica para las enfermedades del tejido conectivo. Los hallazgos de VCP demostraron tener valor predictivo de patología microangiopática, siendo útil para el diagnóstico diferencial, seguimiento y monitoreo de respuesta al tratamiento. La presencia de patrón esclerodérmico hasta ahora ha sido descrita en patologías asociadas al tejido conectivo. Presentamos dos casos clínicos en los cuales la presencia de patrón esclerodérmico evidenciado por medio de la VCP no es exclusiva de las enfermedades del tejido conectivo.
Subject(s)
Humans , Female , Adult , Aged , Microscopic Angioscopy/methods , Capillaries/pathology , Connective Tissue Diseases/diagnosis , Scleroderma, Systemic/diagnosis , Microscopy, VideoABSTRACT
The initial evaluation of patients with interstitial lung disease (ILD) primarily involves a comprehensive, active search for the cause. Autoantibody assays, which can suggest the presence of a rheumatic disease, are routinely performed at various referral centers. When interstitial lung involvement is the condition that allows the definitive diagnosis of connective tissue disease and the classical criteria are met, there is little debate. However, there is still debate regarding the significance, relevance, specificity, and pathophysiological role of autoimmunity in patients with predominant pulmonary involvement and only mild symptoms or formes frustes of connective tissue disease. The purpose of this article was to review the current knowledge of autoantibody positivity and to discuss its possible interpretations in patients with ILD and without clear etiologic associations, as well as to enhance the understanding of the natural history of an allegedly new disease and to describe the possible prognostic implications. We also discuss the proposition of a new term to be used in the classification of ILDs: lung-dominant connective tissue disease.
A avaliação inicial de pacientes com doença pulmonar intersticial (DPI) envolve primordialmente a busca ativa e detalhada por uma etiologia. A pesquisa rotineira de autoanticorpos é comum em diferentes centros e permite sugerir a presença de alguma doença do espectro reumatológico. Quando o acometimento pulmonar intersticial é a condição que permite o diagnóstico firmado de uma colagenose bem estabelecida, preenchendo os critérios clássicos, há pouco debate. Entretanto, ainda existe muita discussão sobre o significado, a relevância, a especificidade e o papel fisiopatológico da autoimunidade nos pacientes que tenham prioritariamente acometimento respiratório e apenas algum indício leve ou frustro de colagenose. O propósito dessa revisão foi apresentar o conhecimento atual e discutir possibilidades de interpretação da positividade de autoanticorpos em pacientes com DPI que não tenham associações etiológicas inequívocas, assim como aumentar o entendimento da história natural de uma possível nova doença e descrever possíveis implicações prognósticas. Discutimos ainda a proposição de uma nova terminologia na classificação das DPIs, a colagenose pulmão dominante.
Subject(s)
Humans , Autoantibodies/analysis , Autoimmune Diseases/diagnosis , Connective Tissue Diseases/diagnosis , Lung Diseases, Interstitial/diagnosis , Antibodies, Antinuclear/analysis , Biopsy , Diagnosis, Differential , Lung Diseases, Interstitial/classification , Lung Diseases, Interstitial/pathology , PrognosisABSTRACT
Las Enfermedades del Tejido Conectivo (ETC) son entidades de baja prevalencia en la población general. Son de naturaleza inflamatoria y autoinmune, tienden a la cronicidad y al compromiso de muchos parénquimas, órganos y tejidos, dejando en ellos daño estructural y funcional. Dado lo anterior, amenazan la vida o disminuyen la expectativa y calidad de vida. El diagnóstico y tratamiento precoz de estas entidades, permite cambiar su curso y muchas veces lograr remisión. Es por lo tanto de suma importancia tenerlas en mente y sospecharlas como entidades de enfermedad e iniciar un tratamiento oportuno.
Connective Tissue Diseases have a low prevalence in the general population. They are inflammatory autoimmune diseases, chronic in nature and compromise different tissues and organs, leaving permanent and irreversible damage. They threaten live, and diminish quality and expectancy of life. Early diagnosis and treatment can change their natural course and in many cases induce remission. A high suspicion is necessary for a prompt diagnosis.
Subject(s)
Humans , Male , Female , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/therapy , Early Diagnosis , Arthritis, Rheumatoid/classification , Arthritis, Rheumatoid/physiopathology , Lupus Erythematosus, Systemic/classification , Lupus Erythematosus, Systemic/physiopathologyABSTRACT
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Adult , Arachnodactyly/diagnosis , Arachnodactyly/etiology , Blepharophimosis/diagnosis , Blepharophimosis/etiology , Cesarean Section , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Contracture/diagnosis , Contracture/etiology , Female , Heart Septal Defects, Atrial/etiology , Hernia, Inguinal/etiology , Humans , Infant, Premature , MaleABSTRACT
Background & objectives: Cutaneous vasculitis has protean clinical manifestations. It may be idiopathic or associated with a spectrum of conditions such as infections, drugs, etc. Skin is involved in both small vessel vasculitis (SVV) and medium vessel vasculitis (MVV). Overlapping features are seen between SVV and MVV. The histopathological features may not always relate with the clinical lesions. The aim of the present study was to evaluate the aetiological factors and clinicopathological association in patients with cutaneous vasculitis. Methods: In this cross-sectional study, detailed history and clinical examination were done on patients with biopsy proven cutaneous vasculitis. Two skin biopsies were taken from each patient for routine histopathology and direct immunofluorescence. Results: Of the 61 patients studied, hypersensitivity vasculitis (HSV) [23 (37.7%)] and Henoch Schonlein purpura (HSP) [16 (26.2%)] were the two most common forms. Systemic involvement was seen in 32 (52.45%) patients. Drugs were implicated in 12 (19.7%) cases, infections in 7 (11.4%) and connective tissue disorders in 4 (6.5%) cases. Histologically SVV was the most common pattern, seen in all the clinically diagnosed patients with SVV (47), and in 12 of the 14 clinically diagnosed patients with MVV. Direct immunofluorescence showed positivity for at least one immunoreactant in 62 per cent of the patients and the most common deposit was C3 followed by IgG, IgA and IgM. Interpretation & conclusions: Majority of our patients with cutaneous vasculitis were idiopathic. Histologically, SVV was seen in most of our patients. No association was seen between history of drug intake and tissue eosinophilia and also between histologically severe vasculitis and clinical severity. The presence of immunoreactant IgA was not specific for HSP.
Subject(s)
Biopsy , Blood Vessels/pathology , Connective Tissue Diseases/blood , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Connective Tissue Diseases/pathology , Diagnosis, Differential , Female , Humans , Male , Microscopic Polyangiitis/blood , Microscopic Polyangiitis/diagnosis , Microscopic Polyangiitis/etiology , Microscopic Polyangiitis/pathology , IgA Vasculitis/blood , IgA Vasculitis/diagnosis , IgA Vasculitis/etiology , IgA Vasculitis/pathology , Vasculitis, Leukocytoclastic, Cutaneous/blood , Vasculitis, Leukocytoclastic, Cutaneous/diagnosis , Vasculitis, Leukocytoclastic, Cutaneous/etiology , Vasculitis, Leukocytoclastic, Cutaneous/pathologyABSTRACT
La técnica de elección para el screening de anticuerpos antinucleares (ANA) es la inmunofluorescencia indirecta que utiliza como sustrato una línea de células epiteliales de carcinoma de laringe humano (IFI-HEp2), y como antisuero, anti-IgG o anti-Ig totales. Los ANA-IgG son los más importantes para el diagnóstico y monitoreo de las enfermedades del tejido conectivo (ETC), mientras los ANA-IgM son de menor relevancia clínica en estos pacientes. Sin embargo, poco se sabe de los ANA-IgA ya que estos Ac han sido menos investigados. El objetivo de este trabajo fue estudiar la prevalencia de los diferentes isotipos de inmunoglobulinas de anticuerpos antinucleares en los pacientes con ETC y evaluar la conveniencia de utilizar conjugados monovalentes o polivalentes. Se procesaron 100 sueros de pacientes con diversas ETC empleando IFI-HEp2, en los cuales se detectó 38% de ANA-IgA (títulos ≥ 1:80) y 12% de ANA-IgM (títulos ≤ 1:160). En 29 casos se detectó IgA en ausencia de IgM, en 3 casos IgM en ausencia de IgA. En todos los casos los ANA-IgG estuvieron presentes. En 6 sueros se observó un cambio de imagen con conjugado anti-IgA y en 3 con conjugado anti-IgM. Debido a la alta prevalencia de ANA-IgA detectada por IFI-HEp2, se destaca la conveniencia de utilizar conjugado anti-Ig totales en lugar de anti-IgG, mientras se desconozca la relevancia de los ANA-IgA en el diagnóstico, pronóstico y seguimiento de las enfermedades reumáticas sistémicas.
The indirect immunofluorescence with epitelial cell line from human laryngeal carcinoma as substrate (IIF-HEp2) and anti-IgG or anti-total Ig as antisera, is the technique currently used for the detection of antinuclear antibodies. The most important antibodies for the diagnosis and follow-up of connective tissue diseases (CTD) are the IgG-ANA, while the IgM-ANA have no clinical relevance. However the IgA-ANA have not been thoroughly investigated so far. The aim of this work was to study the prevalence of different ANA isotypes of Ig antibodies in CTD patients and to evaluate the convenience of the use of monovalent or polyvalent conjugate. We examined the sera of 100 patients with different CTD by IIF-HEp2 and detected a prevalence of 38% IgA-ANA (titles ≥ 1:80) and 12% IgM-ANA (titles ≤ 1:160). In twenty nine cases we detected IgA-ANA in absence of IgM-ANA, and in 3 cases IgM-ANA in absence of IgA-ANA. In all the cases IgG-ANA were present. In 6 sera a change in the immunofluorescence pattern was observed while using anti-IgA conjugate, whereas in 3 the change was observed with the use of anti-IgM conjugate. Because of the high prevalence of ANA-IgA detected by IIF-HEp2, we emphasize the convenience of employing anti-total Ig in spite of anti-IgG conjugated until the role of ANA-IgA is dilucidated in CTD patients, in order to establish its relevance in the diagnosis, prognosis and follow-up of systemic rheumatic diseases.
Subject(s)
Humans , Antibodies, Antinuclear/immunology , Connective Tissue Diseases/immunology , Immunoglobulin Isotypes/immunology , Antibodies, Antinuclear/blood , Connective Tissue Diseases/diagnosis , Fluorescent Antibody Technique, Indirect/methods , Immunoglobulin A/blood , Immunoglobulin A/immunology , Immunoglobulin G/blood , Immunoglobulin G/immunology , Immunoglobulin Isotypes/blood , Immunoglobulin M/blood , Immunoglobulin M/immunology , Retrospective StudiesABSTRACT
Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.
El laxa del cutis es un grupo raro, clínica y genéticamente heterogéneo de desórdenes heredados. Esta afección se caracteriza por cambios degenerativos en las fibras elásticas y se manifiesta en la hiperlaxitud de la piel. Aquí presentamos el caso de un niño de seis meses con cutis laxa congénita asociada con retardo del crecimiento. Se revelan los hallazgos ultra-estructurales y se discute el diagnóstico diferencial.
Subject(s)
Humans , Infant , Male , Connective Tissue Diseases , Cutis Laxa , Growth Disorders , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple , Connective Tissue Diseases/diagnosis , Cutis Laxa/diagnosis , Diagnosis, Differential , Growth Disorders/diagnosisABSTRACT
To diagnose cause of Prolonged fever in patients suffering from FUO. Patients suffering from FUO were admitted in Medical Ward in Nishtar Hospital Multan and investigations were done to find out the cause of FUO. Medical Ward, Nishtar Hospital, Multan from 1.7.1998 to 30.6.2000. Patients presenting with FUO were admitted and investigated. Out of 30 patients of FUO, causes of FUO in 27 patients were diagnosed and in 3 patients, cause of FUO could not be established but these 3 patients responded to ATT [ANTI-Tuberculous Therapy]. It has been concluded that patients suffering from FUO becomes a challenge for treating. Physician and with Intensive investigations causes of FUO can be determined in most patients and in those patients in whom causes can not be identified these can be treated with ATT and most patients respond to ATT, confirming the diagnoses of hidden Tuberculosis
Subject(s)
Humans , Male , Female , Fever of Unknown Origin/etiology , Antitubercular Agents , Connective Tissue Diseases/diagnosis , Infections/diagnosis , Malaria/diagnosis , Typhoid Fever/diagnosis , Brucellosis/diagnosis , Leishmaniasis, Visceral/diagnosisABSTRACT
A hipertensão arterial pulmonar é uma causa importante de morbidade e mortalidade em pacientes com doenças difusas do tecido conjuntivo. É uma manifestação que ocorre em cerca de 10 por cento a 15 por cento dos pacientes com esclerose sistemica, isolada ou associada à doença intersticial pulmonar, e tem prognóstico ruim. Também pode acometer indivíduos com lúpus eritomatoso sistêmico e doença mista do tecido conjuntivo, e mais raramente artrite reumatóide e miopatias inflamatórias. Na esclerose sistêmica, pela pesquisa obrigatória de hipertensão arterial pulmonar no diagnóstico e seguimneto dos pacientes, é frequente o disgnóstico de formas precoces da doença.
Subject(s)
Humans , Male , Female , Mixed Connective Tissue Disease/complications , Mixed Connective Tissue Disease/diagnosis , Connective Tissue Diseases/complications , Connective Tissue Diseases/diagnosis , Scleroderma, Systemic/complications , Scleroderma, Systemic/diagnosis , Hypertension, Pulmonary/complications , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/mortality , Lupus Erythematosus, Systemic/diagnosisABSTRACT
Mucormycosis is an uncommon fungal infection, occurring mainly in patients with acidosis, chronic illnesses and malignancies. The most frequent site of involvement in patients of hematological malignancies is the respiratory tract. Isolated subcutaneous localization of mucormycosis in such patients is extremely rare. We report a case of a young patient of non-Hodgkin's lymphoma on chemotherapy who presented with a subcutaneous swelling on the anterior aspect of right thigh. Fine needle aspiration cytology (FNAC) smears from the swelling revealed numerous characteristic broad, irregularly contoured and pleomorphic hyphae of mucormycosis. This fungus seldom grows in culture and confirmation of the diagnosis depends on cytological or histological examination of infected tissues. Our case report documents a rare site of isolated mucormycosis infection and emphasizes the role of FNAC as a simple, rapid, accurate, and useful method of diagnosing fungal infections.