Реферат
Abstract The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes the diagnosis of the disease itself. Non specific manifestations can occur in a variety of contexts and then histopathology is not specific of a particular disease. This article is divided into two parts that will cover large groups of diseases. In this first part, cutaneous manifestations of the main rheumatologic diseases are described, which are the ones with the greatest interface with dermatology. The authors also talk about vascular manifestations and granulomatous diseases. In the second part, endocrinological, hematological, oncological, cardiovascular, renal, gastrointestinal diseases, pruritus and its causes are discussed, and finally, the dermatological manifestations of SARS-CoV-2 coronavirus infection. The authors' intention is that, by using direct and easily accessible language, aim to provide practical material for consultation and improvement to all dermatologists who recognize the importance of a comprehensive assessment of their patients.
Тема - темы
Humans , Skin Diseases/etiology , Skin Diseases/diagnostic imaging , Collagen Diseases , COVID-19 , SARS-CoV-2Реферат
El síndrome de Marfán es una enfermedad que integra el grupo de las llamadas colagenopatías no autoinmunes. Etiológicamente consiste en la mutación del gen que codifica la fibrilina 1, que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera diversas manifestaciones clínicas por trastornos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). Se presenta un paciente de 43 años de edad, de raza negra, que llegó a la edad adulta sin un diagnóstico de la enfermedad. Incidentalmente sospechamos el diagnóstico al tratar una neumonía adquirida en la comunidad. Se trató su cuadro de neumonía con piperacilina y tazobactam por 7 días. Se recomendó la valoración por parte de cirugía cardiovascular por hallazgos de aneurisma de la aorta ascendente, pero el paciente decidió no continuar con los estudios de su enfermedad. Se aconsejó cambios en el estilo de vida y ejercicios físicos y se diagnosticó alta probabilidad de muerte por el problema vascular descrito(AU)
Marfan's syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia(AU)
Тема - темы
Humans , Male , Adult , Aortic Aneurysm/prevention & control , Marfan Syndrome/drug therapy , Marfan Syndrome/diagnostic imaging , Signs and Symptoms , Collagen Diseases/complications , Colombia , Life StyleРеферат
Abstract Reactive perforating collagenosis is a rare perforating dermatosis clinically characterized by intensely pruritic hyperpigmented papules, plaques, and nodules with a central keratotic plug. Histopathology reveals transepidermal elimination of collagen fibers. Its pathophysiology is still under investigation, but the acquired form has been linked to systemic conditions such as diabetes mellitus and chronic kidney disease. However, it has also been described as a paraneoplastic syndrome. The authors present the case of a 65-year-old diabetic patient in which a myeloproliferative neoplasm was suspected.
Тема - темы
Humans , Aged , Paraneoplastic Syndromes/diagnosis , Skin Diseases , Collagen Diseases , Diabetes Mellitus , Renal Insufficiency, ChronicРеферат
Abstract Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.
Тема - темы
Humans , Male , Aged , Prostatic Neoplasms/complications , Skin Diseases/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Adenocarcinoma/complications , Graves Disease/complications , Collagen Diseases/complications , Skin Diseases/pathology , Collagen , Collagen Diseases/pathologyРеферат
@#A 51-year-old hypertensive and diabetic male patient, admitted due to acute kidney injury on top of chronic kidney disease, was referred to the dermatology service. He presented with a 3-month history of multiple discrete pruritic papules with keratotic plugs over the extensor aspects of the bilateral upper and lower extremities, initially managed as a case of scabies infestation but medications given provided no relief. Histopathologic analysis of a skin biopsy revealed findings of acquired perforating collagenosis. Resolution of lesions and pruritus were noted after starting on a topical corticosteroid ointment on the lesions, as well as hemodialysis to address the renal failure. Subsequent consults showed no recurrences and only a minor sequela of post-inflammatory hyperpigmentation.
Тема - темы
Collagen Diseases , Skin DiseasesРеферат
Abstract Cutaneous collagenous vasculopathy is a rare acquired idiopathic microangiopathy characterized by progressive development of diffuse asymptomatic telangiectasias and histologically by accumulation of collagen type IV around the affected vessels. It is diagnosed by its clinical history, confirmed by light microscopy with collagen-specific immunostaining. We report a case of a patient with extensive acquired telangiectasias on the left arm, clinically resembling unilateral nevoid telangiectasia. Dilated blood vessels with thickened walls were observed in the dermis. Immunohistochemistry with collagen IV antibodies revealed marked collagen deposition around the vessels, confirming the diagnosis. Transmission electron microscopy observed duplicate and triplicate vascular basal membrane associated with deposition of amorphous material around the membranes.
Тема - темы
Humans , Female , Middle Aged , Telangiectasis/diagnostic imaging , Skin Diseases, Vascular/diagnostic imaging , Collagen Diseases/diagnostic imaging , Arm , Telangiectasis/pathology , Skin Diseases, Vascular/pathology , Collagen Diseases/pathology , Collagen Type IV/metabolism , Microscopy, Electron, Transmission , MicroscopyРеферат
Introducción: Colagenosis y tuberculosis comparten síntomas y signos, pero además, el trastorno autoinmune y los tratamientos inmunosupresores que reciben los pacientes con colagenosis, los hacen más vulnerables a esta infección, lo que puede constituir un dilema diagnóstico. Objetivo: Contribuir al conocimiento de la relación entre tuberculosis y colagenosis. Presentación de casos: Se presentan tres adolescentes con tuberculosis, atendidos en el Centro de Referencia Nacional para la Tuberculosis Infantil. Dos enfermos tenían diagnóstico previo de colagenosis (artritis idiopática juvenil y polimiositis) con tratamiento esteroideo en exacerbaciones o continuo desde hacía un año, respectivamente. El tercero presentó un síndrome febril prolongado con pleuresía y pericarditis, con sospecha de lupus eritematoso diseminado. Se diagnosticó tuberculosis por test de mantoux hiperérgico. El tratamiento fue prolongado con esteroides, drogas antituberculosas y pericardiotomía al inicio del proceso, con evolución tórpida y fallo de tratamiento. Todo el tiempo se trató de descartar una enfermedad del colágeno. Se confirmó por cultivo la tuberculosis en los tres pacientes y la evolución final fue satisfactoria. Se exponen las características de cada enfermo y se analiza la relación entre ambas entidades. Conclusiones: Se presentan tres casos que ejemplifican la relación entre tuberculosis y colagenosis(AU)
Introduction: Collagenosis and tuberculosis share similar symptoms and manifestations; and in addition, the autoimmune disorder and inmunosuppressive treatments that patients with collagenosis receive make them more vulnerable to this infection which can constitute a diagnostic dylemma. Objective: To contribute to a better knowledge on the relation among tuberculosis and collagenosis. Cases presentation: Three adolescents suffering collagenosis are presented. They were attended in the National Reference Center for Children Tuberculosis. Two of the patients had previous diagnostic of collagenosis (juvenile idiopatic arthritis and polymyositis) with steroids treatment in exacerbations or continuous since a year ago. The third patient presented a prolonged febrile syndrome with pleurisy and pericarditis, with suspicions of disseminated lupus erythematosus. Tuberculosis was diagnosed by the test of hyperergic Mantoux. The treatment was prolonged with steroids, antiturberculosis drugs and pericardiotomy at the beginning of the process, with bad evolution and failure of the treatment. All the time it was intended to rule out collagen disease. Tuberculosis was confirmed by culturing in the three patients and final evolution was satisfactorily. Characteristics of each patient were exposed and it was analyzed the relation among both diseases. Conclusions: Three cases that exemplify the relation among tuberculosis and collagenosis(AU)
Тема - темы
Humans , Male , Female , Adolescent , Tuberculosis/complications , Tuberculosis/diagnosis , Collagen Diseases/complications , Collagen Diseases/epidemiology , Isoniazid/therapeutic use , Case ReportsРеферат
PURPOSE: To evaluate the impact of preoperative patient characteristics and flow rate on failure, early postoperative complications, and voiding in patients who underwent transvaginal tension-free vaginal tape-obturator (TVT-O) treatment for uncomplicated stress urinary incontinence (SUI). METHODS: We retrospectively reviewed patients who underwent TVT-O for SUI at 3 Italian centres. The exclusion criteria were predominant voiding and storage symptoms suggestive of detrusor overactivity, the presence of grade >1 urogenital prolapse, previous pelvic radiotherapy or other clinical contraindications for surgical procedures, neurogenic bladder dysfunction, and collagen diseases. Multivariate logistic regression models were constructed to identify predictors of early voiding dysfunction after TVT-O. RESULTS: A total of 219 patients underwent TVT-O between January 2010 and December 2015. All patients received follow-up at 3, 6, and 12 months, and underwent a stress test, uroflowmetry, and bladder ultrasound to evaluate the postvoid residual volume. They also responded to the Urogenital Distress Inventory (UDI-6) questionnaire. The rates of persistent incontinence after TVT-O, postoperative complications, and satisfaction were 16.4% (36 of 219), 24.2% (53 of 219), and 86.3% (189 of 219), respectively. Nineteen patients (9.5%) experienced early voiding dysfunction. Based on an analysis of baseline characteristics, we determined that a cutoff value of 9.0 on the UDI-6 predicted postoperative SUI with 62% specificity, 72% sensitivity, and 66% accuracy. In the multivariate logistic regression analysis, a preoperative UDI-6≥9.0 was an independent predictor of postoperative SUI. The predictors of complications were menopause (P = 0.04) and the preoperative UDI-6 score (P = 0.01). CONCLUSIONS: Menopause and UDI-6 scores could be prognostic factors for persistent SUI after TVT-O. Well-designed prospective studies with a suitable number of patients are needed to corroborate our findings.
Тема - темы
Female , Humans , Collagen Diseases , Exercise Test , Follow-Up Studies , Logistic Models , Menopause , Pelvic Organ Prolapse , Postoperative Complications , Prospective Studies , Radiotherapy , Residual Volume , Retrospective Studies , Sensitivity and Specificity , Suburethral Slings , Ultrasonography , Urinary Bladder , Urinary Bladder, Neurogenic , Urinary Incontinence , Urinary Incontinence, Stress , UrodynamicsРеферат
Rhabdomyolysis is most frequently caused by soft tissue injury with trauma to the extremities. Non-traumatic rhabdomyolysis may be caused by alcohol or drug abuse, infection, collagen disease, or intensive exercise, but incidence is low. In particular, rhabdomyolysis resulting from carbon monoxide poisoning is especially rare. If caught before death, carbon monoxide poisoning has been shown to cause severe muscle necrosis and severe muscle damage leading to acute renal failure. In cases of carbon-monoxide-induced rhabdomyolsis leading to acute compartment syndrome in the buttocks and sciatic nerve injury are rare. We have experience treating patients with acute compartment syndrome due to rhabdomyolysis following carbon monoxide poisoning. We report the characteristic features of muscle necrosis observed during a decompression operation and magnetic resonance imaging findings with a one-year follow-up in addition to a review of the literature.
Тема - темы
Humans , Acute Kidney Injury , Buttocks , Carbon Monoxide Poisoning , Carbon Monoxide , Carbon , Collagen Diseases , Compartment Syndromes , Decompression , Extremities , Follow-Up Studies , Incidence , Magnetic Resonance Imaging , Necrosis , Rhabdomyolysis , Sciatic Nerve , Sciatic Neuropathy , Soft Tissue Injuries , Substance-Related DisordersРеферат
Rhabdomyolysis is most frequently caused by soft tissue injury with trauma to the extremities. Non-traumatic rhabdomyolysis may be caused by alcohol or drug abuse, infection, collagen disease, or intensive exercise, but incidence is low. In particular, rhabdomyolysis resulting from carbon monoxide poisoning is especially rare. If caught before death, carbon monoxide poisoning has been shown to cause severe muscle necrosis and severe muscle damage leading to acute renal failure. In cases of carbon-monoxide-induced rhabdomyolsis leading to acute compartment syndrome in the buttocks and sciatic nerve injury are rare. We have experience treating patients with acute compartment syndrome due to rhabdomyolysis following carbon monoxide poisoning. We report the characteristic features of muscle necrosis observed during a decompression operation and magnetic resonance imaging findings with a one-year follow-up in addition to a review of the literature.
Тема - темы
Humans , Acute Kidney Injury , Buttocks , Carbon Monoxide Poisoning , Carbon Monoxide , Carbon , Collagen Diseases , Compartment Syndromes , Decompression , Extremities , Follow-Up Studies , Incidence , Magnetic Resonance Imaging , Necrosis , Rhabdomyolysis , Sciatic Nerve , Sciatic Neuropathy , Soft Tissue Injuries , Substance-Related DisordersРеферат
Abstract Perforating dermatoses are a group of skin diseases characterized by transepidermal elimination of dermal material. The disease is divided into two groups: the primary group and the secondary group. The classical or primary perforating dermatoses are subdivided into four types according to the eliminated dermal materials: Kyrle disease, perforating reactive collagenosis, elastosis perforans serpiginosa, and perforating folliculitis. The secondary form is known as acquired perforating dermatosis. The term was proposed in 1989 by Rapini to designate the perforating dermatoses affecting adult patients with systemic disease, regardless of the dermal materials eliminated. This report describes a case of the disease with elimination of collagen and elastic fibers in a patient with chronic renal failure.
Тема - темы
Humans , Male , Middle Aged , Skin Diseases/etiology , Skin Diseases/pathology , Collagen Diseases/pathology , Epidermis/pathology , Kidney Failure, Chronic/complications , Collagen , Elastic Tissue/pathologyРеферат
Contexto: Síndrome de Ehlers-Danlos compreende um grupo de doenças hereditárias caracterizadas pela fragilidade da pele, ligamentos, vasos sanguíneos e órgãos internos. Decorre de diferentes defeitos genéticos na via de biosíntese do colágeno, resultando em alterações na síntese e estrutura do tecido conjuntivo. Estima-se sua prevalência em 1:5.000 nascidos vivos. Descrição do caso: Mulher, de 24 anos, com aumento da mobilidade articular, da elasticidade cutânea e tendência à formação de cicatrizes atróficas após mínimos traumas desde a infância, tem avô com queixas semelhantes. Exame fundoscópico, cardiológico e ultrassonografia abdominal sem alterações. Estabeleceu-se o diagnóstico de síndrome de Ehlers-Danlos, variante clássica. Discussão: A classificação de Villefranche considera as alterações genéticas da síntese dos colágenos tipo I, III e/ou V, para subdividir a síndrome nas variantes: clássica, hipermobilidade articular, vascular, cifoescoliose, artocalásia, dermatosparaxia. A variante clássica decorre de mutações no colágeno V e é caracterizada pela tríade de hipermobilidade articular, hiperextensibilidade e cicatrizes atróficas, bem como apresentada pela paciente em questão. Conclusões: Cabe ao médico suspeitar e reconhecer a síndrome, uma vez que algumas variantes apresentam risco inclusive de morte. Esses pacientes necessitam de acompanhamento multiprofissional, com cardiologista, oftalmologista, dermatologista, reumatologista e fisioterapeuta, tendo em vista o comprometimento multissistêmico infligido pela doença.
Тема - темы
Humans , Female , Adult , Collagen , Collagen Diseases , Connective Tissue , Collagen Type V , Joint InstabilityРеферат
A rigidez da parede venosa pode aumentar em síndromes em que há uma redução da quantidade de elastina, ocasionando malformações venosas mesmo em indivíduos que possuem mosaicismo para tais síndromes. Casos com apresentação de afecções colagenosas em áreas delimitadas não foram descritos na literatura. O paciente apresentava lesão bem delimitada em região anteromedial da coxa com aumento de elasticidade e presença de vasos tortuosos apenas no local da lesão, não apresentando nenhuma síndrome colagenosa. Foi realizada uma biópsia que evidenciou alterações em relação ao padrão das fibras elásticas e proliferação de vasos sanguíneos. A malformação venosa foi tratada satisfatoriamente com embolização. As doenças do colágeno causam hiperextensibilidade cutânea, o que provoca flacidez e propicia traumas. As colagenoses bem delimitadas são raras, pois geralmente esse grupo de doenças envolve acometimento sistêmico. As malformações vasculares podem ocorrer em diversas doenças do colágeno, mas de forma generalizada e não localizada, e uma explicação para isso seria o mosaicismo genético.
In syndromes that involve reduced quantities of elastin, the rigidity of vein walls may be increased, causing venous malformations, even in people who have mosaicism for these syndromes. There are no previous descriptions in the literature of collagen diseases presenting in specific, delimited areas. The patient described here presented with a lesion restricted to a well-defined area of the anteromedial thigh, in which elasticity was increased and vessels were tortuous, in the area of the lesion only, and with no other signs of collagen syndromes. A biopsy was conducted and the findings included changes to the normal arrangement of the elastic fibers and proliferation of blood vessels. The venous malformation was treated satisfactorily by embolization. Collagen diseases can cause cutaneous hyperextensibility, provoking flaccidity and a propensity to traumatisms. Connective tissue diseases restricted to well-delimited areas are rare, since this group of diseases usually has systemic involvement. Vascular malformations can be seen in many different collagen diseases, but with generalized rather than localized presentation. One possible explanation for the case described here is genetic mosaicism.
Тема - темы
Humans , Male , Adult , Skin Abnormalities/diagnosis , Skin Abnormalities/genetics , Skin Abnormalities/pathology , Collagen Diseases/congenital , Collagen Diseases/genetics , Collagen Diseases/pathology , Mosaicism , Embolization, Therapeutic/methods , Vascular Malformations/complicationsРеферат
Desde hace muchos años, se ha sostenido la idea de que la neumonía intersticial usual (NIU) asociada a enfermedad del tejido conectivo (ETC) tiene mejor pronóstico y mayor sobrevida que la NIU en la fibrosis pulmonar idiopática (FPI). Sin embargo, los estudios han mostrado resultados contradictorios, en general han sido retrospectivos y han incluido grupos heterogéneos de pacientes con distintos patrones histológicos de afección intersticial asociada a ETC
Тема - темы
Collagen Diseases , Lung Diseases, InterstitialРеферат
Dermatosparaxis is a genetic disease that affects collagen maturation. This disease is characterized by marked impairment of the resistance of collagen fibers that leads to skin fragility, and it may affect several species. This is the first report of dermatosparaxis in sheep in Brazil. Clinically, two White Dorper lambs had multiple skin lacerations in the neck, dorsum and limbs. Transmission microscopy demonstrated irregular collagen fibers arranged in hieroglyphic shape and scanning electron microscopy demonstrated thin collagen fibrils that were not arranged in bundles as observed in the normal dermis. These findings are consistent with the diagnosis of dermatosparaxis.
A dermatosparaxis é uma doença genética que afeta a maturação do colágeno. Essa doença é caracterizada por redução acentuada da resistência das fibras colágenas que leva à fragilidade da pele. Esse é o primeiro relato de dermatosparaxis em ovinos no Brasil. Clinicamente, dois cordeiros da raça White Dorper tiveram múltiplas lacerações na pele do pescoço, dorso e membros. A microscopia de transmissão demonstrou fibras de colágeno irregularares arranjadas em formato de hieroflifo, e a microscopia de varredura demonstrou fibras finas de colágeno não arranjadas em bandas como na derme do animal normal. Esses achados são consistentes com o diagnóstico de dermatosparaxis.
Тема - темы
Animals , Sheep , Ehlers-Danlos Syndrome/veterinary , Collagen Diseases/veterinary , Microscopy, Electron, Scanning Transmission/veterinary , Skin DiseasesРеферат
Storiform collagenoma is a rare tumor, which originates from the proliferation of fibroblasts that show increased production of type-I collagen. It is usually found in the face, neck and extremities, but it can also appear in the trunk, scalp and, less frequently, in the oral mucosa and the nail bed. It affects both sexes, with a slight female predominance. It may be solitary or multiple, the latter being an important marker for Cowden syndrome. It presents as a painless, solid nodular tumor that is slow-growing. It must be considered in the differential diagnosis of other well-circumscribed skin lesions, such as dermatofibroma, pleomorphic fibroma, sclerotic lipoma, fibrolipoma, giant cell collagenoma, benign fibrous histiocytoma, intradermal Spitz nevus and giant cell angiohistiocytoma.
O colagenoma estoriforme é um tumor raro originado a partir da proliferação de fibroblastos com produção aumentada de colágeno tipo I. É encontrado mais frequentemente na face, pescoço e extremidades, podendo aparecer no tronco, couro cabeludo e, raramente, na mucosa oral e leito subungueal. Afeta ambos os gêneros, com discreta predominância em mulheres. Pode ser solitário ou múltiplo, sendo que, neste caso, é um importante indicador da presença de síndrome de Cowden. Apresenta-se como tumor sólido, nodular, de crescimento lento e indolor. Deve constar como diagnóstico diferencial de tumores cutâneos bem delimitados, como dermatofibroma, fibroma pleomórfico, lipoma esclerótico, fibrolipoma, colagenoma de células gigantes, histiocitoma fibroso benigno, nevo de Spitz intradérmico e angioistiocitoma de células gigantes.
Тема - темы
Humans , Male , Skin Neoplasms/pathology , Collagen Diseases/pathology , Fibroma/pathology , Skin Neoplasms/surgery , Hamartoma Syndrome, Multiple/pathology , Treatment Outcome , Collagen Diseases/surgery , Diagnosis, Differential , Fibroma/surgeryРеферат
INTRODUCTION: Tuberculosis (TB) is a chronic infectious disease, with a growing incidence seen worldwide. Among the tuberculous infections, pulmonary TB remains to be the most common, with extrapulmonary TB seen in only less than 2.0% of this population. Although the latter remains to be rare, it is commonly found in the lymph nodes, gastrointestinal (GI) and genitourinary (GU) tracts, weight- bearing joints, and the meninges. But, however rare extra- pulmonary tuberculosis may be, some patients have reported the occurrence of such in less common sites.In patients with autoimmune diseases, the diagnosis and management of microbial infections remain complicated because of their immunocompromised nature, and because of the medications they receive. As tuberculosis is a curable disease, early identification and proper treatment should be applied to avoid further patient compromise.OBJECTIVE: The objective of this paper is to present three cases of patients diagnosed with extrapulmonary tuberculosis at atypical sites namely tuberculous cellulitis, endometrial tuberculosis, and tuberculous dactylitis, accompanying a primary rheumatologic disease.CASES: Case 1 is a patient with Dermatomyositis who presented with pain and non- traumatic ecchymosis on his right gluteus, later diagnosed as TB cellulitis through a positive AFB smear of the aspirate. Case 2 is a patient with SLE whose amenorrhea was initially attributed to Cyclophosphamide. However, further work up revealed tuberculous bacteria through AFB smear of the curetting, hence was diagnosed with Endometrial TB. Case 3 reports another patient with SLE, who was diagnosed with recurrent TB dactylitis through a positive AFB smear of the biopsy.CONCLUSION: Despite the high endemicity of the Philippines for tuberculosis, extra- pulmonary TB continues to be underrecognized. Patients with autoimmune conditions are most likely to suffer from such infections due to their immunocompromised state. High suspicion and management remain to be the cornerstone to avoid diagnostic delays, and improve outcome.
Тема - темы
Humans , Male , Female , Adult , Dermatomyositis , Cellulitis , Ecchymosis , Amenorrhea , Weight-Bearing , Tuberculosis, Pulmonary , Meninges , Collagen Diseases , Autoimmune Diseases , Lymph Nodes , Bacteria , Arthritis, RheumatoidРеферат
<p><b>OBJECTIVE</b>To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.</p><p><b>METHODS</b>The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.</p><p><b>RESULTS</b>A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.</p><p><b>CONCLUSION</b>The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.</p>
Тема - темы
Child, Preschool , Humans , Male , Base Sequence , China , Cleft Palate , Genetics , Collagen Diseases , Genetics , Collagen Type II , Genetics , Dwarfism , Genetics , Exons , Face , Congenital Abnormalities , Hyaline Membrane Disease , Genetics , Molecular Sequence Data , Mutation, Missense , Open Reading Frames , Osteochondrodysplasias , Genetics , RNA SplicingРеферат
Objectif : Déterminer les caractéristiques épidémiologiques et cliniques des atteintes pleuro-pulmonaires au cours des connectivites dans l'unité de rhumatologie du CNHU-HKM.Patients et méthodes : Il s'agit d'une étude rétrospective à visée descriptive portant sur des dossiers des patients vus l'unité de rhumatologie dans la période de janvier 2000 à Mars 2013. Dans un premier temps, les dossiers des patients ayant souffert d'une connectivite ont été recensés. Le diagnostic de connectivite a été retenu selon les différents critères diagnostiques TANIMOTO 1995 pour la Dermatopolymyosite (DPM), ACR 1987 pour la Polyarthrite Rhumatoïde (PR), ACR 1997 pour le lupus érythémateux systémique (LES), ACR 1989 pour la sclérodermie, Communauté Européenne 1993 pour le Goujerot-Sjögren, SHARP pour les connectivites mixtes. Dans un deuxième temps, les dossiers des patients ayant souffert de manifestations pleuro-pulmonaires ont été dépouillés. Le diagnostic d'atteinte pulmonaire a été posé sur des arguments clinique, radiologique et/ou après un test thérapeutique. Les données recueillies ont été analysées grâce au logiciel épi info 6.0.Résultats : Sur 9785 patients vus dans l'unité de rhumatologie, 127 cas (1,3%) de connectivites ont été diagnostiqués. Il s'agissait de 99 béninois, 13 nigérians, 5 togolais, 4 ivoiriens, 3 maliennes, 2 burkinabés et une sénégalaise. La sex-ratio était de 0,17. L'âge moyen des patients était de 35,2± 5,2 [18-71] ans. Dix-sept (17) patients ont présenté des manifestations pleuro-pulmonaires. Elles étaient associées à d'autres atteintes séreuses (péricarde et péritoine) dans 6 cas. La toux était présente chez tous les patients. Elle était sèche dans n=14 cas et associée à une dyspnée dans n=5 cas. Les manifestations se présentaient comme suit : pleurésies rattachées au LES et à la PR (n=3 cas chacun), toxicité pulmonaire probablement liée au méthotrexate confirmée par l'arrêt du traitement de fond (n=5), broncho-pneumopathies infectieuses (n=4) et la fibrose pulmonaire en rapport avec la PR (n=2). L'évolution sous traitement (corticothérapie seule ou associée à un traitement de fond) a été favorable chez 14 patients, stationnaire chez 2 patients. Un cas de décès a été noté. Conclusion : Les atteintes pleuro-pulmonaires occupent une place non négligeable parmi les complications liées aux connectivites. La corticothérapie et le traitement de fond par les DMARDs ne sont pas non plus dénudés de complications pulmonaires. La mise en place d'une équipe pluridisciplinaire s'impose pour le dépistage précoce et la prise en charge de ces complications