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1.
N Engl J Med ; 382(2): e4, 2020 01 09.
Artigo em Inglês | MEDLINE | ID: mdl-31914253
2.
N Engl J Med ; 382(2): e4, 2020 01 09.
Artigo em Inglês | MEDLINE | ID: mdl-31914254
3.
Klin Padiatr ; 232(1): 29-32, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31914462

RESUMO

Pseudohypoaldosteronism type I is a rare genetic disease of mineralocorticoid resistance that typically manifests in neonatal age. The patients are diagnosed with failure to thrive, dehydration, polyuria, vomiting, hyperkalemia, hyponatremia as well as potential metabolic acidosis accompanied by elevated values for serum aldosterone and renin. The disease is subdivided into a systemic and a renal type. Considering the renal type symptoms disappear in the toddler age group. The systemic type can -apart from the kidneys - affect colon, lungs, salivary and sweat glands. In that case symptoms persist until adulthood.


Assuntos
Insuficiência de Crescimento , Hiperpotassemia , Hiponatremia , Pseudo-Hipoaldosteronismo/diagnóstico , Pseudo-Hipoaldosteronismo/genética , Adulto , Aldosterona , Pré-Escolar , Diagnóstico Diferencial , Humanos , Poliúria , Doenças Raras
5.
Medicine (Baltimore) ; 98(51): e17987, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860950

RESUMO

INTRODUCTION: The odontogenic keratocyst (OKC), previously known as keratocystic odontogenic tumor has been the most disputable pathologies of the maxillofacial region. Patients with OKC are often asymptomatic but may present with pain, swelling, or discharge. Despite the aggressive nature, previous literature as early as 1970s reported the fact that parakeratinized OKC can be treated by means of marsupialization alone. PATIENTS CONCERNS: The patient had reported with a complaint of pain and swelling in relation with a tooth in mandibular right quadrant. DIAGNOSIS: This case report discusses features of a rare, extensive, panmandibular OKC that is only second of its kind mentioned in the literature. INTERVENTION: As a usual treatment protocol, marsupialization was attempted first. Immunohistochemical analysis revealed reduced expression of Ki-67 and B cell lymphoma 2 (bcl-2) markers after marsupialization from 2 separate sites. However, due to incomplete resolution in the lower right anterior region, an aggressive approach was taken by curetting it out surgically along with associated teeth and cortical plate followed by application of Carnoy's solution. OUTCOME: Postsurgery uneventful healing of the lesion was noted on regular follow-up visits with complete resolution at 40 months. The case has been followed for 10 years with no sign of relapse and reoccurrence. CONCLUSIONS: Based on the expression of markers it can thus be concluded that Ki-67 and bcl-2 are site specific and bear strong relationship with the recurrence of OKCs.


Assuntos
Doenças Mandibulares/diagnóstico por imagem , Doenças Mandibulares/cirurgia , Cistos Odontogênicos/diagnóstico por imagem , Cistos Odontogênicos/cirurgia , Radiografia Dentária/métodos , Adulto , Biópsia por Agulha , Dentística Operatória/métodos , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Doenças Mandibulares/patologia , Cistos Odontogênicos/patologia , Cuidados Pré-Operatórios/métodos , Doenças Raras , Medição de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento
6.
Medicine (Baltimore) ; 98(51): e18077, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860958

RESUMO

RATIONALE: Angelman syndrome (AS) is an uncommon genetic disease characterized as serious retarded mental development and ocular abnormality. PATIENT CONCERNS: This report aims to present the ophthalmological features, and identify the diagnosis and outcomes of strabismus surgery in AS patients. DIAGNOSIS: Three children with exotropia were diagnosed with AS based on their typical clinical features. INTERVENTIONS: All patients underwent multiplex ligation-dependent probe amplification (MLPA) analysis and accepted lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia. OUTCOMES: The maternal heritage deletion of chromosome 15q11.2-q13 was verified in all patients by MLPA. All patients with strabismus could not cooperate during the vision test, and had astigmatism. The strabismus type of AS patients was horizontal exotropia, and no vertical strabismus was found. One of these patients was combined with high myopia. The hypopigmentation on the hair and iris was ubiquitous. However, retina pigmentation was normal. After different degrees of lateral rectus recession, the exotropia was significantly relieved, and the surgical effects were stable postoperatively. LESSONS: Horizontal exotropia is the major strabismus type. Severe intellectual disability, hyperactivity, and speech impairment are the common characteristics of AS children. Its examination and operation design remains challenging. Thus, repeated examinations and intelligence rehabilitation are essential.


Assuntos
Síndrome de Angelman/diagnóstico , Exotropia/diagnóstico , Exotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Síndrome de Angelman/complicações , Criança , Pré-Escolar , China , Exotropia/complicações , Feminino , Humanos , Masculino , Músculos Oculomotores/fisiopatologia , Prognóstico , Doenças Raras , Recuperação de Função Fisiológica , Estrabismo/complicações , Estrabismo/diagnóstico , Estrabismo/cirurgia , Resultado do Tratamento , Testes Visuais
7.
Medicine (Baltimore) ; 98(51): e18141, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860961

RESUMO

RATIONALE: Peliosis hepatis (PH), which is characterized by blood-filled cavities in the liver, is a rare disease. Its diagnosis depends on postoperative pathological examinations and immunohistochemistry. PATIENT CONCERNS: A 44-year-old female complained of right-middle upper abdominal pain and distension for 1 month, with occasional vomiting and fever. DIAGNOSIS: Because of the similar imaging features, the patient was initially misdiagnosed as cystic echinococcosis (CE). The immunoassay of echinococcosis was negative. Irregular hepatectomy was performed. Eventually, the patient was diagnosed with PH based on postoperative histopathology and immunohistochemistry. INTERVENTIONS: The patient underwent hepatectomy. Then, the cystic lesion was collected for intraoperative pathological examination. Thus, the blood liquid was extracted from the cystic lesion. Pringle maneuver was administered to prevent bleeding, and then the whole cystic lesion was removed. OUTCOMES: She recovered smoothly and there was no relapse occurred during 6 months' follow-up. LESSONS: It is difficult to differentiate PH from CE and other hepatic diseases due to the lack of special imaging features. Pathological examinations and immunohistochemistry can provide a confirmed diagnosis of PH.


Assuntos
Equinococose/diagnóstico , Hepatectomia/métodos , Peliose Hepática/diagnóstico , Peliose Hepática/patologia , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adulto , Biópsia por Agulha , Diagnóstico Diferencial , Equinococose/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Imagem por Ressonância Magnética/métodos , Peliose Hepática/diagnóstico por imagem , Peliose Hepática/cirurgia , Doenças Raras , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
8.
Medicine (Baltimore) ; 98(51): e18149, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860962

RESUMO

RATIONALE: Retroperitoneal schwannomas are very rare and may grow very close to major abdominal vessels. Since the surgical approach to the retroperitoneal space may be complex due to surrounding vital organs, including major vessels, laparoscopic surgery is challenging and has only been recently adopted. Here, we report a case of laparoscopic resection of a large retroperitoneal schwannoma attached to large vital vessels. PATIENT CONCERNS: A 62-year-old woman presented with a chief complaint of pain in the lower right limb with consequent claudication, which had lasted for approximately 1 year. DIAGNOSES: Magnetic resonance imaging revealed a solid oval mass measuring 45 × 32 × 39 mm, located medially to the right iliopsoas muscle at the level of the intersomatic space between the 5th lumbar vertebra and the 1st sacral vertebra. This mass was inhomogeneously hypointense in T2 due to the presence of cystic areas, with intense and inhomogeneous contrast enhancement, compatible with the diagnosis of a schwannoma. The mass compressed the inferior caval vein near its bifurcation and the right common iliac vein, anteriorly dislocating the ipsilateral iliac arterial axis. INTERVENTIONS: A multidisciplinary team skilled in vascular and pelvic laparoscopy was involved. The patient underwent laparoscopic surgery via an anterior transperitoneal approach with right adnexectomy and radical excision of the tumor. The surgery lasted 120 minutes without intraoperative complications. Blood loss was less than 100 mL. The histologic diagnosis was a benign Schwannoma; grade I according to World Health Organization classification. OUTCOMES: The postoperative course was uneventful. At the 10-month follow-up, the patient had no recurrences and was asymptomatic. LESSONS: Laparoscopic removal of large retroperitoneal schwannomas, even if attached to major vital vessels, is feasible and safe when performed by experienced surgeons.


Assuntos
Laparoscopia/métodos , Neurilemoma/diagnóstico , Neurilemoma/cirurgia , Neoplasias Retroperitoneais/diagnóstico , Neoplasias Retroperitoneais/cirurgia , Veia Cava Inferior/patologia , Idoso , Biópsia por Agulha , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Comunicação Interdisciplinar , Extremidade Inferior , Dor Musculoesquelética/diagnóstico , Dor Musculoesquelética/etiologia , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Neurilemoma/diagnóstico por imagem , Doenças Raras , Neoplasias Retroperitoneais/diagnóstico por imagem , Medição de Risco , Resultado do Tratamento
9.
Medicine (Baltimore) ; 98(50): e18173, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852073

RESUMO

RATIONALE: Coronary artery aneurysms (CAAs) are uncommon in patients with acute coronary syndrome (ACS). We describe the clinical features and outcomes of stent-assisted coil embolization of a CAA in the trigeminal position. PATIENT CONCERNS: We present a 73-year-old woman with a history of paroxysmal episodes of precordial pain since 1 year. Coronary computed tomography angiography (CTA) revealed an aneurysm (diameter: 9 mm) at the junction of the distal left main coronary artery and the anterior descending branch. Troponin I, CK-MB, creatinine and routine blood investigations were within the normal range. DIAGNOSIS: Coronary artery aneurysm in the left main trigeminal position. INTERVENTIONS: The patient was treated with stent-assisted coil embolization. OUTCOMES: After complete filling of the aneurysm with coil, the microcatheter was withdrawn and the stent released in the descending branch. Two stents were successfully implanted. LESSONS: There is no clear consensus on the optimal therapy for patients with CAAs. Clinicians should be aware of the possible complications of stent-assisted coil embolization of CAA in the main trunk of the coronary artery.


Assuntos
Implante de Prótese Vascular/métodos , Aneurisma Coronário/terapia , Estenose Coronária/cirurgia , Vasos Coronários/diagnóstico por imagem , Embolização Terapêutica/métodos , Stents , Idoso , Angiografia Digital , Aneurisma Coronário/complicações , Aneurisma Coronário/diagnóstico , Angiografia Coronária , Estenose Coronária/complicações , Estenose Coronária/diagnóstico , Vasos Coronários/cirurgia , Feminino , Humanos , Doenças Raras
10.
Recurso na Internet em Inglês | LIS - Localizador de Informação em Saúde, LIS-bvsms | ID: lis-LISBR1.1-46875

RESUMO

MyPART is the My Pediatric and Adult Rare Tumor network. It is a group of scientists, patients, family members, advocates, and healthcare providers who want to help find treatments for rare cancers. We are working on childhood, teen, and young adult solid rare tumors that have no cures. We think that working as a team will help us find treatments for rare cancers faster. Everyone can play a part.


Assuntos
Doenças Raras , Neoplasias
12.
Lima; Perú. Ministerio de Salud; 20191100. 23 p. tab.
Monografia em Espanhol | LILACS, LIPECS | ID: biblio-1025967

RESUMO

Contribuir a la ejecución eficiente de las prestaciones de los servicios de salud para mejorar la condición de salud y calidad de vida de las personas que padecen Enfermedades Raras o Huérfanas, en el marco de la Ley N° 29698, que declara de Interés Nacional y Preferente Atención el Tratamiento de personas que padecen Enfermedades Raras o Huérfanas


Assuntos
Qualidade de Vida , Assistência Integral à Saúde , Serviços Básicos de Saúde , Doenças Raras
15.
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
17.
N Engl J Med ; 381(17): 1644-1652, 2019 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-31597037

RESUMO

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila's Miracle Foundation and others.).


Assuntos
Proteínas de Membrana Transportadoras/genética , Mutagênese Insercional , Lipofuscinoses Ceroides Neuronais/tratamento farmacológico , Lipofuscinoses Ceroides Neuronais/genética , Oligonucleotídeos Antissenso/uso terapêutico , Medicina de Precisão , Doenças Raras/tratamento farmacológico , Biópsia , Criança , Desenvolvimento Infantil , Descoberta de Drogas , Drogas em Investigação/uso terapêutico , Eletroencefalografia , Feminino , Humanos , Testes Neuropsicológicos , RNA Mensageiro , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Pele/patologia , Sequenciamento Completo do Genoma
18.
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
19.
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
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