Genetic Disorders
Mostrando 1-12 de 636 artigos, teses e dissertações.
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1. O transtorno depressivo pode ser geneticamente herdado?
Sobre os fatores genéticos da depressão, a herdabilidade da depressão ainda não é consenso na literatura cientifica. No entanto, segundo alguns estudos estima-se que 37% dos casos possam ter uma relação genética, mesmo que essas relações sejam posteriormente moduladas pelo ambiente – ou seja, embora os genes possam ser relevantes para o surgim
Núcleo de Telessaúde Mato Grosso do Sul. Publicado em: 12/06/2023
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2. Expansion of cord blood stem cells in fibronectin-coated microfluidic bioreactor
ABSTRACT Background: Hematopoietic stem/progenitor cell transplantation is the main treatment option for hematological malignancies and disorders. One strategy to solve the problem of low stem cell doses used in transplantation is pre-transplant expansion. We hypothesized that using fibronectin-coated microfluidic channels would expand HSPCs and keep self-r
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Impact of lifestyle in prostate cancer patients. What should we do?
ABSTRACT Objective: This review aimed to analyze interventions raised within primary and tertiary prevention concerning the disease's incidence, progression, and recurrence of Prostate Cancer (PCa). Priority was given to the multidisciplinary approach of PCa patients with an emphasis on modifiable risk factors. Materials and Methods: We conducted a compreh
International braz j urol. Publicado em: 2022
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4. HemoTypeSC point-of-care testing shows high sensitivity with alkaline cellulose acetate hemoglobin electrophoresis for screening hemoglobin SS and SC genotypes
ABSTRACT Introduction: By providing timely actionable results for prompt management, point-of-care testing (POCT) kits have revolutionised medical care for various diseases, ranging from infectious diseases like malaria to genetic disorders, such as sickle cell disease (SCD). They are, however, underutilised in the diagnosis of SCD in developing countries,
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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5. Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis
Objective: Individuals with schizophrenia and substance use disorders have a poor prognosis and increased psychiatric symptoms. The present study aimed to explore the association of 106 genes in individuals with schizophrenia and comorbid substance use through a next-generation sequencing (NGS) analysis and different in silico algorithms. Methods: We includ
Brazilian Journal of Psychiatry. Publicado em: 2022
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6. Association Between Lipid Profile and Clinical Manifestations in Sickle Cell Anemia: A Systematic Review
Abstract Introduction Sickle cell anemia (SCA) is a genetic disease associated with frequent episodes of acute illness. Changes in the lipid profile and a chronic inflammatory process make up the molecular aspects observed in this disease. Associations between these mechanisms and clinical manifestations could thus define severity profiles and therapeutic
International Journal of Cardiovascular Sciences. Publicado em: 2022
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7. Does asthma cause sleep disorders … or the other way around?
Abstract Objective We sought to describe the prevalence of microcephaly and to compare the different cutoff points established by the Brazilian Ministry of Health at various times during a Zika virus epidemic. As a secondary aim, we investigated the possible etiology of the microcephaly. Method This retrospective study utilized newborn participants in the
J. Pediatr. (Rio J.). Publicado em: 2021-08
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8. An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecul
Arch. Endocrinol. Metab.. Publicado em: 2021-02
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9. Neurobiology of bipolar disorders: a review of genetic components, signaling pathways, biochemical changes, and neuroimaging findings
Bipolar disorder (BD) is a chronic mental illness characterized by changes in mood that alternate between mania and hypomania or between depression and mixed states, often associated with functional impairment. Although effective pharmacological and non-pharmacological treatments are available, several patients with BD remain symptomatic. The advance in the
Braz. J. Psychiatry. Publicado em: 2020-10
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10. Translational Medicine – New Frontiers in Cardiology
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Int. J. Cardiovasc. Sci.. Publicado em: 2020-10
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11. Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
An. Bras. Dermatol.. Publicado em: 2020-10
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12. Splenic hamartoma associated with visceral leishmaniasis mimicking aggressive lymphoma
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Hematol., Transfus. Cell Ther.. Publicado em: 2020-10