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1.
J Pediatr Hematol Oncol ; 37(8): e453-7, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26422285

RESUMO

ABO hemolytic disease of the newborn occurs almost exclusively in infants of blood group A and B who are born to group O mothers. Positive Direct Antiglobulin Test (DAT) can identify those infants who are at risk of developing the ABO hemolytic disease. Earlier studies have suggested that BO incompatibility is associated with a positive DAT in black infants. In this study we sought to determine whether ABO incompatibility type could be associated with a higher rate of DAT positivity or clinical hemolytic disease. We reviewed the electronic medical records of all ABO-incompatible births over a 2-year period. There were 1537 ABO-incompatible births during the study period. DAT was more commonly positive among BO incompatible (21.5% in BO vs. 14.8% in AO, P=0.001) and black (18.8% in blacks vs. 10.8% in nonblacks, P=0.003) infants. DAT positivity was significantly associated with both severe hyperbilirubinemia (P=0.028) and hemolytic anemia (P<0.001). BO incompatibility was significantly associated with hemolytic anemia, but not severe hyperbilirubinemia, in the infants tested.


Assuntos
Sistema ABO de Grupos Sanguíneos/imunologia , População Negra/genética , Incompatibilidade de Grupos Sanguíneos/imunologia , Teste de Coombs , Eritroblastose Fetal/sangue , Sangue Fetal/imunologia , Imunidade Materno-Adquirida , Sistema ABO de Grupos Sanguíneos/genética , Adulto , Anemia Hemolítica Congênita/sangue , Anemia Hemolítica Congênita/etnologia , Anemia Hemolítica Congênita/genética , Incompatibilidade de Grupos Sanguíneos/etnologia , Eritroblastose Fetal/etnologia , Eritroblastose Fetal/genética , Feminino , Humanos , Hiperbilirrubinemia/sangue , Hiperbilirrubinemia/etnologia , Hiperbilirrubinemia/genética , Recém-Nascido , Isoanticorpos/imunologia , Masculino , Gravidez , Complicações na Gravidez/imunologia , Estudos Retrospectivos
2.
Cureus ; 15(2): e34572, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36874334

RESUMO

Chronic kidney disease (CKD) is a debilitating progressive illness that affects more than 10% of the world's population. In this literature review, we discussed the roles of nutritional interventions, lifestyle modifications, hypertension (HTN) and diabetes mellitus (DM) control, and medications in delaying the progression of CKD. Walking, weight loss, low-protein diet (LPD), adherence to the alternate Mediterranean (aMed) diet, and Alternative Healthy Eating Index (AHEI)-2010 slow the progression of CKD. However, smoking and binge alcohol drinking increase the risk of CKD progression. In addition, hyperglycemia, altered lipid metabolism, low-grade inflammation, over-activation of the renin-angiotensin-aldosterone system (RAAS), and overhydration (OH) increase diabetic CKD progression. The Kidney Disease: Improving Global Outcomes (KDIGO) guidelines recommend blood pressure (BP) control of <140/90 mmHg in patients without albuminuria and <130/80 mmHg in patients with albuminuria to prevent CKD progression. Medical therapies aim to target epigenetic alterations, fibrosis, and inflammation. Currently, RAAS blockade, sodium-glucose cotransporter-2 (SGLT2) inhibitors, pentoxifylline, and finerenone are approved for managing CKD. In addition, according to the completed Study of Diabetic Nephropathy with Atrasentan (SONAR), atrasentan, an endothelin receptor antagonist (ERA), decreased the risk of renal events in diabetic CKD patients. However, ongoing trials are studying the role of other agents in slowing the progression of CKD.

3.
Cureus ; 15(11): e49445, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38149134

RESUMO

Hematological disorders pose a diagnostic challenge due to overlapping clinical features, as demonstrated by the difficulty in differentiating between aplastic anemia (AA) and primary myelofibrosis (PM). Myeloproliferative disorders, characterized by aberrant proliferation of bone marrow stem cells, present complexities in diagnosis, often requiring a comprehensive evaluation to distinguish between disorders with similar manifestations. The distinctions between myelofibrosis and AA lie not only in clinical presentations but also in genetic and molecular markers, necessitating a nuanced diagnostic approach. We present a case of a 37-year-old male initially diagnosed with myelofibrosis based on a history of pancytopenia, warm submandibular and submental swelling, and negative BCR-ABL and JAK2 mutations. Further examination revealed empty fragmented cells, hypoplastic bone marrow, and suppressed erythropoiesis and myelopoiesis. Subsequent core biopsy showed increased megakaryocytes, prompting a revised diagnosis of AA. This case underscores the importance of a meticulous diagnostic journey, incorporating physical examination, genetic testing, and advanced imaging to unravel the complexities of hematological disorders. The intricacies of this case prompt a reevaluation of diagnostic paradigms, highlighting the limitations of relying solely on specific mutations for diagnosis. The absence of BCR-ABL and JAK2 mutations in AA raises questions about its genetic landscape, necessitating further exploration. Immunological considerations, given the immune-mediated nature of AA, provide a foundation for future research into immune dysregulation and potential therapeutic interventions. The clinical management challenges posed by AA underscore the need for personalized treatment strategies, guided by a deeper understanding of its underlying pathophysiology. Advanced imaging techniques, in conjunction with traditional diagnostic methods, emerge as crucial tools for enhancing diagnostic accuracy in hematological disorders. This case serves as a paradigm for ongoing medical education, multidisciplinary collaboration, and innovative approaches in the evolving landscape of hematology, emphasizing the imperative for continuous refinement in diagnostic strategies and patient care.

4.
Oral Oncol ; 121: 105391, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34187735

RESUMO

Extra-pulmonary small cell carcinomas (EPSCC) are rare malignancies. Like small cell lung cancer (SCLC), they are aggressive malignancies with dismal prognosis. We here report a case of a middle-aged man who presented with odynophagia and cervical lymphadenopathy. Diagnostic workup confirmed the diagnosis of locally-advanced p16-positive oropharyngeal cancer (OPC) with a surprising histology of small cell cancer, suggesting a human papilloma virus (HPV)-related oropharyngeal cancer with small cell differentiation. HPV oropharynx infection is a well-known risk factor for squamous cell carcinoma of the oropharynx, but it is unknown if it may increase the risk of other OPC histology.


Assuntos
Carcinoma de Células Pequenas , Neoplasias Orofaríngeas , Infecções por Papillomavirus , Carcinoma de Células Pequenas/diagnóstico , Carcinoma de Células Pequenas/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Orofaríngeas/diagnóstico , Neoplasias Orofaríngeas/virologia , Papillomaviridae , Infecções por Papillomavirus/diagnóstico
5.
Crit Rev Oncol Hematol ; 151: 102969, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32416346

RESUMO

Rearrangements of the ALK gene are found in approximately 5% of non-small-cell lung cancer. It is of particular importance to test for this rearrangement in patients with metastatic lung adenocarcinoma because these tumors are highly sensitive to therapy with ALK-targeted inhibitors. Lorlatinib is a reversible potent third generation tyrosine kinase inhibitor that is highly selective and targets ALK and ROS1. It was developed to target resistant ALK mutants including the most common G1202R. Lorlatinib has excellent central nervous system (CNS) penetration and its efficacy has also been demonstrated even in patients with intracranial metastases after progression on second generation ALK inhibitors. Potential toxicities include neurocognitive effects and hyperlipidemia. "A User's Guide to Lorlatinib" reviews the mechanism of action, pharmacology and clinical trial data. Also covering the management of adverse events, this "guide" has been prepared to be a practical reference tool to both clinicians and basic researchers.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Lactamas Macrocíclicas , Neoplasias Pulmonares , Aminopiridinas , Humanos , Lactamas , Inibidores de Proteínas Quinases , Proteínas Tirosina Quinases , Proteínas Proto-Oncogênicas , Pirazóis
6.
Oral Oncol ; 109: 104744, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32402656

RESUMO

Anaplastic thyroid carcinoma (ATC) is a rare type of thyroid neoplasm. However, it is one of the most aggressive forms of malignancy accounting for approximately 50% of mortality associated with all thyroid cancers. Here we report two cases of ATC treated with immune checkpoint inhibitors. Next generation sequencing identified BRAFV600E mutation in one of the patients who also derived benefit from BRAF targeted therapy. We here discuss these cases highlighting the importance of expert pathological review, utilizing molecular testing to identify the underlying genetic targets for personalized therapy, and the potential role of PD-1 inhibitors for the treatment of ATC.


Assuntos
Inibidores de Checkpoint Imunológico/uso terapêutico , Terapia de Alvo Molecular , Carcinoma Anaplásico da Tireoide/diagnóstico , Carcinoma Anaplásico da Tireoide/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais , Gerenciamento Clínico , Humanos , Inibidores de Checkpoint Imunológico/farmacologia , Proteínas de Checkpoint Imunológico/genética , Proteínas de Checkpoint Imunológico/metabolismo , Masculino , Pessoa de Meia-Idade , Terapia de Alvo Molecular/efeitos adversos , Terapia de Alvo Molecular/métodos , Estadiamento de Neoplasias , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Receptor de Morte Celular Programada 1/antagonistas & inibidores , Carcinoma Anaplásico da Tireoide/etiologia , Resultado do Tratamento
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