Familial
Mostrando 1-12 de 2220 artigos, teses e dissertações.
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1. Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder. Whole-exome sequencing
Brazilian Journal of Psychiatry. Publicado em: 2023
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2. Surgery for primary hyperparathyroidism
ABSTRACT Primary hyperparathyroidism (PHPT) is a hypercalcemic disorder that occurs when one or more parathyroid glands produces excessive parathyroid hormone (PTH). PHPT is typically treated with surgery, and it remains the only definitive therapy, whose techniques have evolved over previous decades. Advances in preoperative localization exams and the intra
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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4. Generalized pustular psoriasis (von Zumbusch)
Abstract Generalized pustular psoriasis (von Zumbusch) is a rare and acute eruption characterized by multiple sterile pustules over an erythematous and edematous background, eventually associated with psoriasis vulgaris. Classically, it manifests as a potentially severe systemic picture and demands prompt diagnosis and intervention. The duration of each flar
Anais Brasileiros de Dermatologia. Publicado em: 2022
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5. Lipoprotein apheresis efficacy and challenges: single center experience
Abstract Introduction Lipoprotein apheresis (LA) is an extracorporeal therapy which removes apolipoprotein B-containing particles from the circulation. We evaluated techniques and efficiency of lipoprotein apheresis procedures applied to patients with familial and non-familial hypercholesterolemia (FH) at our center. Methods We retrospectively evaluated 25
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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6. Hemophagocytic lymphohistiocytosis: presentation and outcome of twenty-one patients at a single institution
ABSTRACT Introduction: Hemophagocytic lymphohistiocytosis comprises a systemic hyperactivation of macrophages that requires prompt recognition of symptoms and early treatment. Objective and Method: In this context, we described clinical and laboratory characteristics, therapeutic modality and outcome of 21 patients with HLH treated at a pediatric oncology
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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7. Does eating eggs matter?
ABSTRACT Dietary cholesterol is absorbed in proportion to the amount ingested, blocking its hepatic synthesis, increasing its biliary excretion, only slightly increasing production of bile acids while potentially raising the serum concentration of the atherogenic low-density lipoprotein. Humans lie midway between rats and rabbits that respond to dietary chol
Archives of Endocrinology and Metabolism. Publicado em: 2022
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8. Lysosomal acid lipase deficiency in pediatric patients: a scoping review
Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D
Jornal de Pediatria. Publicado em: 2022
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9. Cardiovascular Risk Factors in Children and Adolescents with Fontan Circulation
Abstract Background: Long-term outcomes of patients with Fontan circulation are uncertain regarding the prevalence and role of risk factors (RFs) such as increased body mass index (BMI), arterial hypertension, and hypercholesterolemia. Objectives: To describe the prevalence of RFs in patients with univentricular heart, with variable follow-up times. Metho
International Journal of Cardiovascular Sciences. Publicado em: 2022
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10. Classic and current concepts in adrenal steroidogenesis: a reappraisal
ABSTRACT Adrenal steroid biosynthesis and its related pathology are constant evolving disciplines. In this paper, we review classic and current concepts of adrenal steroidogenesis, plus control mechanisms of steroid pathways, distribution of unique enzymes and cofactors, and major steroid families. We highlight the presence of a “mineralocorticoid (MC) pat
Archives of Endocrinology and Metabolism. Publicado em: 2022
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11. Stroke in the state of Alagoas, Brazil: a descriptive analysis of a northeastern scenario
RESUMO Antecedentes Até o momento existe pouca informação disponível na literatura sobre a epidemiologia do acidente vascular verebral (AVC) no nordeste brasileiro. Objetivo Investigar a prevalência dos subtipos de AVC, dos fatores de risco para doenças cerebrovasculares e o manejo do AVC em um serviço público especializado em Alagoas. Método
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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12. Retinal microvascular changes in patients with familial mediterranean fever: a study based on optical coherence tomography angiography
RESUMO Objetivos: Este estudo teve como objetivo mostrar se há diferença entre os achados da microcirculação retiniana e coroidal entre pacientes com febre mediterrânica familiar e um grupo controle saudável. Métodos: Trinta e dois pacientes com febre mediterrânica familiar e 30 controles saudáveis foram incluídos neste estudo. Todos os pacientes
Arquivos Brasileiros de Oftalmologia. Publicado em: 2022