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1.
Cureus ; 14(7): e26551, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35936178

RESUMO

Intestinal malrotation refers to the abnormal positioning of the intestines due to a deviation from normal developmental stages. Volvulus is seen in 60%-70% of neonates diagnosed with intestinal malrotation. We are reporting a case of s six-day-old male who presented with multiple episodes of bilious vomiting and constipation and had malrotation of intestines with midgut volvulus. After a contrast upper GI study, the patient was taken for exploratory laparotomy, and extensive patches of an early stage of bowel ischemia were observed; resection was avoided at this stage. In the second-look surgery, all the gangrenous bowel loops were resected, and anastomosis was done.

2.
Cureus ; 14(7): e26504, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35923479

RESUMO

Hemophagocytic lymphohistiocytosis (HLH) is an autoimmune phenomenon characterized by reactive hyperactivity of cytotoxic T cells and histiocytes, leading to hypercytokinemic injury to cells and organ system, which leads to multiorgan dysfunction and ultimate failure. Epstein-Barr virus (EBV) is most commonly associated with secondary HLH with high mortality, but increasing evidence suggests the association of the dengue virus. When associated with dengue infection, it carries a grave prognosis and correlates with the disease severity. Furthermore, it overlaps with dengue sepsis, so it can often be misdiagnosed as sepsis. Typically the patients have hyperferritinemia, hypertriglyceridemia, transaminitis, and marrow features suggestive of hemophagocytosis. The treatment is usually systemic corticosteroids, intravenous immunoglobulin, and chemotherapy with etoposide. We present a case of a 25-year-old male patient who had a dengue infection and further developed HLH with pulmonary infiltrates. Clinical suspicion alerted us to look for other evidence of HLH on the fourth day of admission, and appropriate investigations were done. Diagnosis of HLH was confirmed by HLH-2004, HScore criteria, and bone marrow aspirate examination. Treatment was given in the form of corticosteroids and chemotherapy along with other supportive measures. The patient responded to the line of management.

3.
Cureus ; 14(6): e26187, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35891852

RESUMO

While many etiologies of hydrocephalus for different age groups have been studied in detail, chronic kidney disease remains rare. We report a case of a 42-year-old male who was a known case of chronic kidney disease on maintenance hemodialysis since seven years. He was brought to the emergency department with a history of altered sensorium and irrelevant talk since the last 4-5 hours and was found to be a case of communicating hydrocephalus with periventricular ooze, as revealed by a computed tomography (CT) of the brain. A ventriculoperitoneal shunt surgery was performed, and the patient ultimately recovered and was discharged.

4.
Cureus ; 14(1): e21351, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35186605

RESUMO

Autoimmune basal ganglia encephalitis (BGE) typically presents with acute onset parkinsonism and on imaging is associated with lesions in the basal ganglia. It is associated with chorea and other movement disorders. Seizures are still rare. Various autoantibodies are associated with the development of basal ganglia encephalitis. These autoantibodies are against dopamine D2 receptor (D2R) and N-methyl-D-aspartate receptor (NMDAR). Another paraneoplastic antibody known as anti-recoverin antibodies (Abs) is also associated with basal ganglia encephalitis. We report a case of a 45-year-old male who presented in this hospital with a history of cognitive dysfunction and slowness of activities for eight days and faciobrachial seizures. Magnetic resonance imaging (MRI) of the brain revealed lesions in the putamen and caudate nucleus. Infection and antibody screening were negative. The seizures were refractory to conventional antiepileptics. The patient responded to intravenous immunoglobulin (IVIG) therapy.

5.
Nat Commun ; 12(1): 5826, 2021 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-34611171

RESUMO

Pancreatic ductal adenocarcinoma (PDAC) is projected to be the second leading cause of cancer mortality by 2030. Bulk transcriptomic analyses have distinguished 'classical' from 'basal-like' tumors with more aggressive clinical behavior. We derive PDAC organoids from 18 primary tumors and two matched liver metastases, and show that 'classical' and 'basal-like' cells coexist in individual organoids. By single-cell transcriptome analysis of PDAC organoids and primary PDAC, we identify distinct tumor cell states shared across patients, including a cycling progenitor cell state and a differentiated secretory state. Cell states are connected by a differentiation hierarchy, with 'classical' cells concentrated at the endpoint. In an imaging-based drug screen, expression of 'classical' subtype genes correlates with better drug response. Our results thus uncover a functional hierarchy of PDAC cell states linked to transcriptional tumor subtypes, and support the use of PDAC organoids as a clinically relevant model for in vitro studies of tumor heterogeneity.


Assuntos
Organoides/metabolismo , Análise de Célula Única/métodos , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Regulação Neoplásica da Expressão Gênica/genética , Regulação Neoplásica da Expressão Gênica/fisiologia , Humanos
6.
PLoS One ; 8(2): e56334, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23418555

RESUMO

BACKGROUND: The role of microRNAs (miRNAs), important post-transcriptional regulators, in the pathogenesis of acute myeloid leukemia (AML) is just emerging and has been mainly studied in adults. First studies in children investigate single selected miRNAs, however, a comprehensive overview of miRNA expression and function in children and young adults is missing so far. METHODOLOGY/PRINCIPAL FINDINGS: We here globally identified differentially expressed miRNAs between AML subtypes in a survey of 102 children and adolescent. Pediatric samples with core-binding factor AML and promyelocytic leukemia could be distinguished from each other and from MLL-rearranged AML subtypes by differentially expressed miRNAs including miR-126, -146a, -181a/b, -100, and miR-125b. Subsequently, we established a newly devised immunoprecipitation assay followed by rapid microarray detection for the isolation of Argonaute proteins, the hallmark of miRNA targeting complexes, from cell line models resembling core-binding factor and promyelocytic leukemia. Applying this method, we were able to identify Ago-associated miRNAs and their targeted mRNAs. CONCLUSIONS/SIGNIFICANCE: miRNAs as well as their mRNA-targets showed binding preferences for the different Argonaute proteins in a cell context-dependent manner. Bioinformatically-derived pathway analysis suggested a concerted action of all four Argonaute complexes in the regulation of AML-relevant pathways. For the first time, to our knowledge, a complete AML data set resulting from carefully devised biochemical isolation experiments and analysis of Ago-associated miRNAs and their target-mRNAs is now available.


Assuntos
Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Leucemia Mieloide/genética , MicroRNAs/genética , Doença Aguda , Adolescente , Proteínas Argonautas/genética , Linhagem Celular Tumoral , Criança , Pré-Escolar , Citogenética , Feminino , Humanos , Lactente , Leucemia Mieloide/classificação , Masculino , Isoformas de Proteínas/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transdução de Sinais/genética
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