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1.
BMC Med Genet ; 21(1): 15, 2020 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-31964351

RESUMO

BACKGROUND: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia. CASE PRESENTATION: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. He was admitted due to a primary diagnosis of McCune-Albright syndrome. After admission, the lesion samples from the milk coffee spots, and nodular thickening skin at hands and feet were subjected to genetic screening. Genetic testing results confirmed the diagnosis of PS. CONCLUSIONS: Based on the clinical manifestations, laboratory tests, imaging data, and literature reviewing, the etiology, diagnosis, treatment and prognosis of PS have been analyzed and discussed.


Assuntos
Diagnóstico Diferencial , Displasia Fibrosa Poliostótica/genética , Síndrome de Proteu/diagnóstico , Doenças Raras/diagnóstico , Proliferação de Células , Criança , Pré-Escolar , Quimera/genética , Displasia Fibrosa Poliostótica/fisiopatologia , Humanos , Lactente , Masculino , Síndrome de Proteu/fisiopatologia , Doenças Raras/fisiopatologia
3.
Urology ; 135: 71-75, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31195014

RESUMO

OBJECTIVE: To summarize the clinical characteristics and surgical management of adrenal teratoma in adults. PATIENTS AND METHODS: We retrospectively reviewed 14 patients with adrenal teratoma from January 2002 to June 2017, at 2 large centers in China and performed a systematic review of 39 patients from our series and published literatures. The clinicopathological characteristics, imaging features, surgical management and outcomes of this rare disease were analyzed. RESULTS: Our series includes 12 females and 2 males with the median age of 35. Seven patients were treated by open adrenalectomy (OA) and 7 by laparoscopic adrenalectomy (LA) without perioperative complications. All patients were alive without recurrence or canceration over a mean follow-up of 77.1 months. In the systemic review, the male-female ratio was nearly 1:3, with a median age of 29 years. Mean tumor size was 9.4 cm and the distribution was almost the same between left and right side (53.8% vs 46.2%). The most common symptoms were flank or abdominal pain (46.2%), whereas 53.8% patients were asymptomatic. Tumors were often cystic (63.9%) with intratumoral fat (91.7%) and calcifications (80.6%). All patients underwent surgery including 17 (43.6%) OA and 22 (56.4%) minimally invasive surgery. All tumors were pathologically confirmed mature teratoma except for one. CONCLUSION: Adrenal teratoma is an extremely rare entity, frequently found to be large, benign and cystic. The patient's prognosis is generally good. As for its large volume, OA is the first choice for teratoma in most cases, while the LA can be an option in the small one.


Assuntos
Neoplasias das Glândulas Suprarrenais/cirurgia , Glândulas Suprarrenais/patologia , Doenças Assintomáticas/terapia , Doenças Raras/cirurgia , Teratoma/cirurgia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Glândulas Suprarrenais/cirurgia , Adrenalectomia , Adulto , China , Feminino , Seguimentos , Humanos , Laparoscopia , Masculino , Prognóstico , Doenças Raras/diagnóstico , Doenças Raras/patologia , Estudos Retrospectivos , Teratoma/diagnóstico , Teratoma/patologia , Resultado do Tratamento
4.
BMC Infect Dis ; 19(1): 953, 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31703558

RESUMO

BACKGROUND: Localized `and disseminated Nocardia farcinica infection is frequently reported in immunocompromised patients. However, orbital nocardiosis is rare, and, to our knowledge, traumatic orbital nocardiosis that affects the brain has never been described. Here, we report a case of traumatic orbital and intracranial N. farcinica infection in an immunocompetent patient. CASE PRESENTATION: A 35-year-old man, who was immunocompetent, to the best of our knowledge and as per the absence of immunodeficiency symptoms, with orbital trauma caused by the penetration of a rotten bamboo branch developed lesions in the orbit and brain. Subsequently, he underwent debridement and received broad-spectrum antibiotic therapy, but orbital infection occurred, with drainage of pus through the sinus tract. The patient then underwent endoscope-assisted local debridement. Bacterial culture of the sinusal pus was positive for N. farcinica, and a combined intracranial infection had developed. The disease was treated effectively by trimethoprim-sulfamethoxazole and ceftriaxone sodium therapy. The patient remained infection free and without complications at the 14-month follow-up. CONCLUSIONS: Traumatic orbital and intracranial infection caused by N. farcinica is a rare infectious disease, and atypical presentations easily lead to misdiagnosis. When a patient presents with an atypical orbital infection that is unresponsive to empirical broad-spectrum antibiotics, along with suspicious neurologic symptoms, Nocardia infection should be considered. Identification by bacterial culture is the gold standard. Complete local debridement and appropriate antibiotic treatment are keys to the treatment of the disease.


Assuntos
Ferimentos Oculares Penetrantes/microbiologia , Nocardiose/diagnóstico , Nocardiose/microbiologia , Nocardia/isolamento & purificação , Órbita/lesões , Adulto , Antibacterianos/uso terapêutico , Ceftriaxona/uso terapêutico , Desbridamento , Drenagem , Seguimentos , Humanos , Hospedeiro Imunocomprometido , Masculino , Nocardiose/tratamento farmacológico , Nocardiose/cirurgia , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Doenças Raras/microbiologia , Doenças Raras/cirurgia , Sasa/microbiologia , Resultado do Tratamento , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico
8.
Bull Cancer ; 106(12): 1177-1189, 2019 Dec.
Artigo em Francês | MEDLINE | ID: mdl-31610911

RESUMO

Inactivating germline pathogenic variants of the DICER1 gene are responsible for a spectrum of rare diseases, which expanded a lot in recent years. The constitution of an U.S. registry with these patients and their families as well as the registration of patients in European databases of rare tumors helped to better identify diseases encountered in this syndrome but also to study its pathophysiology (major role in miRNA maturation and recently discovered functions, e.g. in genome integrity maintenance). Most encountered disorders are pediatric malignancies, mainly the pulmonary pneumoblastoma and Sertoli-Leydig tumours. However, benign pathologies such as thyroid goiters, cystic nephromas or pulmonary cystic lesions are also frequently reported. Homogeneous guidelines regimens written by the European groups working on very rare pediatric tumors are proposed but it is important to underscore that they rely on rare scientific data; therefore overall consensus remains precarious. The genetic counseling to families is still difficult due to the large observed spectrum of tumors and the incomplete penetrance. In this article, the authors update current knowledge on the DICER1 syndrome.


Assuntos
RNA Helicases DEAD-box/genética , Neoplasias/genética , Doenças Raras/genética , Ribonuclease III/genética , RNA Helicases DEAD-box/metabolismo , Feminino , Aconselhamento Genético , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Neoplasias Renais/metabolismo , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Neoplasias/diagnóstico , Neoplasias/metabolismo , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/metabolismo , Doenças Raras/diagnóstico , Doenças Raras/metabolismo , Ribonuclease III/metabolismo , Síndrome
9.
Lakartidningen ; 1162019 Sep 26.
Artigo em Sueco | MEDLINE | ID: mdl-31573670

RESUMO

Systemic sclerosis is an autoimmune systemic disease with an annual incidence in Sweden of only 20 cases per million and a standardised mortality rate of 3-4. Disease onset is usually preceded by a period with Raynaud's phenomenon, combined with structurally abnormal nailbed capillaries and accompanied by presence of scleroderma related autoantibodies. The presenting symptoms are skin thickness, puffy fingers, digital ulcers, dysphagia, joint stiffness and pain, and pruritus. Optimal management involves a number of specialists including allied health professionals. Early recognition, diagnosis and treatment are important. The dominating causes of death are cardiopulmonary.


Assuntos
Escleroderma Sistêmico , Autoanticorpos/imunologia , Humanos , Atenção Primária à Saúde , Doenças Raras/complicações , Doenças Raras/diagnóstico , Doenças Raras/patologia , Doenças Raras/terapia , Doença de Raynaud/etiologia , Encaminhamento e Consulta , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Escleroderma Sistêmico/patologia , Escleroderma Sistêmico/terapia
11.
Cien Saude Colet ; 24(10): 3627-3636, 2019.
Artigo em Português | MEDLINE | ID: mdl-31576993

RESUMO

Adopting a different viewpoint from most of the work in the field of so-called rare diseases, this paper crosses the boundaries of the associations to reach people living with the diagnosis of a genetic condition, which is understood as being a rare disease, namely neurofibromatosis (NF). In this respect, the incipient Sociology of Diagnosis is utilized to identify both the impact and the consequences of the diagnosis in people's lives. As a result, the consensus is that it is necessary to transcend the charitable outlook on people who experience the diagnosis of a genetic condition, by perceiving the patient as a key informant in order to collect input to improve health services and our social relations.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Neurofibromatoses/diagnóstico , Doenças Raras/diagnóstico , Humanos , Neurofibromatoses/genética , Doenças Raras/genética , Sociologia Médica
12.
Cien Saude Colet ; 24(10): 3637-3650, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31576994

RESUMO

Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the 'therapeutic itineraries' of patients in search of a diagnosis and treatment for rare genetic diseases in the cities of Rio de Janeiro, Salvador and Porto Alegre. It focuses on the material challenges, emotional and structural problems faced in these trajectories. Semi-structured interviews were conducted with patients/caregivers and health professionals in the context of public health medical genetics. Our findings suggest that the experience of the rare genetic disease is aggravated by practical, inter-relational and bureaucratic/institutional problems. The reality of long and circuitous journeys to obtain a diagnosis, non-geneticists' lack of knowledge about rare diseases, difficulties in transportation and access to specialists, diagnostic and complementary examinations, and access to high-cost medicines and food supplies were common challenges in all the narratives examined in the three Brazilian cities. In addition, adherence to care provided by medical genetics requires action and strategies that depend on arrangements involving family members, physicians, patient associations, and the state.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Saúde Pública , Doenças Raras/diagnóstico , Brasil , Cuidadores/estatística & dados numéricos , Cidades , Doenças Genéticas Inatas/terapia , Pessoal de Saúde/estatística & dados numéricos , Acesso aos Serviços de Saúde , Humanos , Entrevistas como Assunto , Cooperação do Paciente , Doenças Raras/genética , Doenças Raras/terapia
13.
Cien Saude Colet ; 24(10): 3673-3682, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31576997

RESUMO

This paper aims to discuss the experience of relatives of children and adolescents with rare diseases as a moral experience. Moral experience is characterized by suffering that is socially interpreted as a catastrophic event, mobilizing resources for signification and meaning that allow the reconstruction of identity, the appreciation of itineraries from a rare diagnosis, as well as the search for peers. Thus, the construction of relationships of recognition, alterity, and belonging is fundamental. From a symbolic interactionist perspective, the results show two significant cores: (1) shock as a surprise in the face of an unexpected diagnosis, leading to the search for peers and promotion of social recognition; (2) the cost involved with the course of a rare disease that implies a care work and the acquisition of associative capital as a possibility of strengthening and building the social capital of health care.


Assuntos
Família/psicologia , Doenças Raras/psicologia , Capital Social , Estresse Psicológico/psicologia , Adolescente , Doença Catastrófica/psicologia , Criança , Assistência à Saúde/organização & administração , Feminino , Grupos Focais , Humanos , Masculino , Grupo Associado , Doenças Raras/diagnóstico
14.
Cien Saude Colet ; 24(10): 3701-3708, 2019.
Artigo em Português | MEDLINE | ID: mdl-31576999

RESUMO

We acknowledge that people with rare conditions constitute a group with a specific social identity and seek to understand what the implications of this acknowledgement are either in the stigmatization or emancipation of these individuals. We base ourselves on the observation that many people who are said to have rare conditions are told that their symptoms constitute a "rare disease," without specifying which illness it might be. And, in this respect, many people with rare conditions are considered "handicapped," people with "learning difficulties," or are given many other labels that are not always socially well accepted. This article is structured around three analytical standpoints, basing ourselves on Stuart Hall, Axel Honneth and Annemarie Jutel. Initially, we discuss the construction of the social identity of people with rare conditions based on Hall's definition of the "identity crisis." We then examine the identity of people with rare conditions from the perspective of the theory of justice as recognition, especially in relation to what Honneth refers to as "reciprocal recognition." Lastly, we highlight some of the specificities of the demands for recognition of people with rare conditions - albeit without a diagnosis - basing our study on the sociology of diagnosis from the standpoint of Annemarie Jutel.


Assuntos
Doenças Raras/psicologia , Identificação Social , Estereotipagem , Humanos , Doenças Raras/diagnóstico
15.
Cien Saude Colet ; 24(10): 3709-3712, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31577000

RESUMO

In this interview, Susan Kelly, professor and researcher at the Center for Life Sciences - Egenis, and the University of Exeter, England, discusses her academic career, involvement with the Sociology of Diagnosis and the work involved with the first activity on the Sociology of Diagnosis carried out in Brazil.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Doenças Raras/diagnóstico , Sociologia Médica , Brasil , Diagnóstico , Educação/organização & administração , Humanos
16.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 54(10): 699-706, 2019 Oct 09.
Artigo em Chinês | MEDLINE | ID: mdl-31607009

RESUMO

A rare disease, also referred to as an orphan disease, is defined as the disease with a low prevalence or that affects a small percentage of the population. It is a well model of human disease, which can facilitate the in-depth study and understanding of related diseases. Therefore, five Chinese governmental authorities, including the National Health Commission of the People's Republic of China, jointly issued the "First National Directory of Rare Diseases" (the First List) on May 11, 2018. The First List covers 121 rare indications. In the analysis of the directory, we found that among the 121 diseases, there are 51 (42.2%) with oral characterization. Oral manifestations mainly include craniofacial abnormalities, dentition (dental) abnormalities, oral soft tissue lesions, jaw bone lesions, salivary gland related diseases, etc., even some of them are the first, earliest and inevitable clinical manifestations of some patients with rare diseases. In order to strengthen the understanding of stomatological counterparts on the importance of the national directory of rare diseases and deeply understand the important and irreplaceable role of stomatologists in the diagnosis and treatment of rare diseases, the present review article is specifically written to introduce the oral characterization of the rare diseases listed in the catalogue, aiming at improving the diagnosis and treatment capabilities of these diseases by peers and benefiting the public.


Assuntos
Anormalidades Craniofaciais , Medicina Bucal , Doenças Raras , China , Anormalidades Craniofaciais/diagnóstico , Humanos , Doenças Raras/diagnóstico
17.
BMC Bioinformatics ; 20(1): 496, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31615419

RESUMO

BACKGROUND: When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient's phenotypes. Typically, this is done through annotation, filtering, and then prioritization of variants for manual curation. However, prioritization of variants in rare disease patients remains a challenging task due to the high degree of variability in phenotype presentation and molecular source of disease. Thus, methods that can identify and/or prioritize variants to be clinically reported in the presence of such variability are of critical importance. METHODS: We tested the application of classification algorithms that ingest variant annotations along with phenotype information for predicting whether a variant will ultimately be clinically reported and returned to a patient. To test the classifiers, we performed a retrospective study on variants that were clinically reported to 237 patients in the Undiagnosed Diseases Network. RESULTS: We treated the classifiers as variant prioritization systems and compared them to four variant prioritization algorithms and two single-measure controls. We showed that the trained classifiers outperformed all other tested methods with the best classifiers ranking 72% of all reported variants and 94% of reported pathogenic variants in the top 20. CONCLUSIONS: We demonstrated how freely available binary classification algorithms can be used to prioritize variants even in the presence of real-world variability. Furthermore, these classifiers outperformed all other tested methods, suggesting that they may be well suited for working with real rare disease patient datasets.


Assuntos
Algoritmos , Doenças Genéticas Inatas/diagnóstico , Genômica/métodos , Mutação , Doenças Raras/diagnóstico , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Genoma Humano , Humanos , Fenótipo , Polimorfismo Genético , Medicina de Precisão/métodos , Doenças Raras/genética , Estudos Retrospectivos , Análise de Sequência de DNA/métodos , Software
18.
J Ayub Med Coll Abbottabad ; 31(3): 308-313, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31535496

RESUMO

BACKGROUND: C1q nephropathy (C1qN) is a rare glomerulopathy, with a very low prevalence world wide varying from 0.2 to 2.5%. Even though more than three decades have passed since this entity was first explained, still, it remains a dilemma for many due to the rarity of this lesion. This study was carried out principally to determine the clinical presentation, morphologic features and distribution of C1qN in our region based on renal biopsies studied by light microscopy (LM), and immunofluorescence (IF) so that this entity is better understood both by nephrologists and pathologists as no such study has ever been conducted in Pakistan to our knowledge. METHODS: It was a cross-sectional study carried out from 1st January 2012 to 30th December 2016 in Histopathology department, Shifa International Hospital. All cases diagnosed as C1q nephropathy were retrieved from the hospital's computerized database. Their clinical profiles, morphology and immunohistochemical profiles were studied.. RESULTS: Over this period a total of 31 cases were diagnosed with C1qN. Mean age of the patients was 32.09±18.66 years. The most common clinical presentation was nephrotic syndrome seen in 22 (71%) patients. The most frequent morphological pattern seen was minimal change disease (MCD) in 13 (41.9%) cases. All cases showed dominant 22 (71%) or codominant 9 (42.9%) mesangial±membranous C1q deposition. No correlation was found (p-value >0.05) between morphological pattern and clinical presentation of the disease or immunofluorescence findings. CONCLUSIONS: C1qN is a rare entity which is primarily diagnosed on the basis of immunofluorescence findings with a dominant or codominant fluorescent intensity for C1q. It is recommended that C1qN is sought for preferably with immunofluorescence staining of biopsies for immune reactants, especially for C1q. Studies from this part of the world are strongly recommended to predict clinical outcome and treatment options.


Assuntos
Glomerulonefrite , Doenças Raras , Adolescente , Adulto , Complemento C1q/análise , Estudos Transversais , Mesângio Glomerular/patologia , Glomerulonefrite/diagnóstico , Glomerulonefrite/epidemiologia , Glomerulonefrite/fisiopatologia , Humanos , Rim/patologia , Rim/fisiopatologia , Pessoa de Meia-Idade , Paquistão/epidemiologia , Doenças Raras/diagnóstico , Doenças Raras/epidemiologia , Doenças Raras/fisiopatologia , Adulto Jovem
19.
BMC Musculoskelet Disord ; 20(1): 392, 2019 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-31470834

RESUMO

BACKGROUND: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare idiopathic autoinflammatory bone disease that mostly affects children and adolescents. It is a diagnosis of exclusions since no clinical signs and symptoms are pathognomonic. Radiological tests are often essential, but bone biopsy may be needed in unclear cases. CASE PRESENTATION: A 9-year-old Caucasian girl with a history of bone pain. The data from the history and results of laboratory tests suggested osteomyelitis, but no adequate response to the treatment was observed. A number of imaging tests did not confirm the diagnosis, therefore a bone biopsy was necessary. CONCLUSIONS: Differential diagnosis of CRMO is challenging and it is based on exclusions. Since it might be misdiagnosed or mistreated, bone biopsy should be considered in patients reporting bone pain who are unresponsive to treatment.


Assuntos
Dor Musculoesquelética/etiologia , Osteomielite/diagnóstico , Doenças Raras/diagnóstico , Artrite Infecciosa/diagnóstico , Biópsia , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Neoplasias Ósseas/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Imagem por Ressonância Magnética , Osteomielite/complicações , Osteomielite/patologia , Cintilografia , Doenças Raras/complicações , Doenças Raras/patologia , Tíbia/diagnóstico por imagem , Tíbia/patologia , Tomografia Computadorizada por Raios X
20.
Lancet ; 394(10197): 533-540, 2019 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-31395441

RESUMO

One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, we explore the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and we discuss how these genomic sequencing diagnoses could change clinical management.


Assuntos
Doenças Raras/diagnóstico , Análise de Sequência de DNA/métodos , Adulto , Criança , Diagnóstico Precoce , Genômica , Humanos , Fenótipo , Diagnóstico Pré-Natal/métodos , Doenças Raras/genética , Sequenciamento Completo do Exoma , Sequenciamento Completo do Genoma
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