RESUMO
Subacute sclerosing panencephalitis (SSPE) is a rare but fatal late neurological complication of measles, caused by persistent measles virus (MeV) infection of the central nervous system. There are no drugs approved for the treatment of SSPE. Here, we followed the clinical progression of a 5-year-old SSPE patient after treatment with the nucleoside analog remdesivir, conducted a post-mortem evaluation of the patient's brain, and characterized the MeV detected in the brain. The quality of life of the patient transiently improved after the first two courses of remdesivir, but a third course had no further clinical effect, and the patient eventually succumbed to his condition. Post-mortem evaluation of the brain displayed histopathological changes including loss of neurons and demyelination paired with abundant presence of MeV RNA-positive cells throughout the brain. Next-generation sequencing of RNA isolated from the brain revealed a complete MeV genome with mutations that are typically detected in SSPE, characterized by a hypermutated M gene. Additional mutations were detected in the polymerase (L) gene, which were not associated with resistance to remdesivir. Functional characterization showed that mutations in the F gene led to a hyperfusogenic phenotype predominantly mediated by N465I. Additionally, recombinant wild-type-based MeV with the SSPE-F gene or the F gene with the N465I mutation was no longer lymphotropic but instead efficiently disseminated in neural cultures. Altogether, this case encourages further investigation of remdesivir as a potential treatment of SSPE and highlights the necessity to functionally understand SSPE-causing MeV.IMPORTANCEMeasles virus (MeV) causes acute, systemic disease and remains an important cause of morbidity and mortality in humans. Despite the lack of known entry receptors in the brain, MeV can persistently infect the brain causing the rare but fatal neurological disorder subacute sclerosing panencephalitis (SSPE). SSPE-causing MeVs are characterized by a hypermutated genome and a hyperfusogenic F protein that facilitates the rapid spread of MeV throughout the brain. No treatment against SSPE is available, but the nucleoside analog remdesivir was recently demonstrated to be effective against MeV in vitro. We show that treatment of an SSPE patient with remdesivir led to transient clinical improvement and did not induce viral escape mutants, encouraging the future use of remdesivir in SSPE patients. Functional characterization of the viral proteins sheds light on the shared properties of SSPE-causing MeVs and further contributes to understanding how those viruses cause disease.
Assuntos
Monofosfato de Adenosina , Alanina , Vírus do Sarampo , Sarampo , Panencefalite Esclerosante Subaguda , Proteínas Virais , Pré-Escolar , Humanos , Monofosfato de Adenosina/administração & dosagem , Monofosfato de Adenosina/análogos & derivados , Monofosfato de Adenosina/uso terapêutico , Alanina/administração & dosagem , Alanina/análogos & derivados , Alanina/uso terapêutico , Autopsia , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/virologia , Progressão da Doença , Evolução Fatal , Genoma Viral/genética , Sequenciamento de Nucleotídeos em Larga Escala , Sarampo/complicações , Sarampo/tratamento farmacológico , Sarampo/virologia , Vírus do Sarampo/efeitos dos fármacos , Vírus do Sarampo/genética , Vírus do Sarampo/metabolismo , Proteínas Mutantes/análise , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Qualidade de Vida , RNA Viral/análise , RNA Viral/genética , Panencefalite Esclerosante Subaguda/tratamento farmacológico , Panencefalite Esclerosante Subaguda/etiologia , Panencefalite Esclerosante Subaguda/virologia , Proteínas Virais/análise , Proteínas Virais/genética , Proteínas Virais/metabolismoRESUMO
We report a fatal case of New Delhi metallo-ß-lactamase (NDM)-producing Escherichia coli in a bacteremic patient with sequential failure of aztreonam plus ceftazidime-avibactam followed by cefiderocol. Acquired resistance was documented phenotypically and mediated through preexisting and acquired mutations. This case highlights the need to rethink optimal treatment for NDM-producing organisms.
Assuntos
Antibacterianos , Compostos Azabicíclicos , Aztreonam , Bacteriemia , Cefiderocol , Ceftazidima , Cefalosporinas , Combinação de Medicamentos , Infecções por Escherichia coli , Escherichia coli , Falha de Tratamento , beta-Lactamases , Humanos , Compostos Azabicíclicos/uso terapêutico , Compostos Azabicíclicos/administração & dosagem , beta-Lactamases/genética , beta-Lactamases/metabolismo , Aztreonam/uso terapêutico , Aztreonam/administração & dosagem , Aztreonam/farmacologia , Ceftazidima/uso terapêutico , Ceftazidima/administração & dosagem , Antibacterianos/uso terapêutico , Antibacterianos/administração & dosagem , Escherichia coli/efeitos dos fármacos , Escherichia coli/genética , Escherichia coli/enzimologia , Escherichia coli/isolamento & purificação , Infecções por Escherichia coli/tratamento farmacológico , Infecções por Escherichia coli/microbiologia , Evolução Fatal , Bacteriemia/tratamento farmacológico , Bacteriemia/microbiologia , Cefalosporinas/uso terapêutico , Cefalosporinas/administração & dosagem , Testes de Sensibilidade Microbiana , Masculino , Farmacorresistência Bacteriana MúltiplaRESUMO
We investigated a fatal case of primary amoebic meningoencephalitis from an indoor surfing center in Taiwan. The case was detected through encephalitis syndromic surveillance. Of 56 environmental specimens, 1 was positive for Naegleria fowleri ameba. This report emphasizes the risk for N. fowleri infection from inadequately disinfected recreational waters, even indoors.
Assuntos
Infecções Protozoárias do Sistema Nervoso Central , Naegleria fowleri , Humanos , Naegleria fowleri/isolamento & purificação , Naegleria fowleri/genética , Taiwan/epidemiologia , Infecções Protozoárias do Sistema Nervoso Central/parasitologia , Infecções Protozoárias do Sistema Nervoso Central/diagnóstico , Infecções Protozoárias do Sistema Nervoso Central/epidemiologia , Evolução Fatal , Masculino , Meningoencefalite/parasitologia , Meningoencefalite/diagnóstico , Amebíase/diagnóstico , Amebíase/parasitologia , AdultoRESUMO
Significant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched-chain amino acids leucine, isoleucine, and valine, where leucine is known as the primary neurotoxic metabolite. Newborn screening is helpful in early diagnosis and implementation of dietary treatment, thus reducing neurological deterioration and complications in young children. However, patients face the life-long challenge of maintaining metabolic control through adherence to a strict low-leucine diet to avoid long-term consequences of chronic hyperleucinemia, which include cognitive deficits, mood disorders, and movement disorders. This case report exemplifies the complex involvement of MSUD in adult survivors. Despite presenting early in life, the patient thrived until the onset of psychiatric symptoms. The subject of this case is a 25-year-old woman with MSUD, who remained in her usual state of health until presentation to the emergency department (ED) with psychosis and altered mental status. However, due to a lack of medical records and poor communication, there was a delay in considering MSUD as a primary cause of her psychiatric symptoms. Although a genetics consultation was later arranged and efforts were made to decrease plasma leucine to the therapeutic range, these interventions proved inadequate in halting her deterioration in health. Her condition worsened within 72 h, culminating in her untimely death. This case emphasizes the comorbidity of psychiatric involvement in MSUD, which contributes to metabolic decompensation that can lead to cerebral edema and death. This case also highlights the pressing need for enhanced strategies for the acute management and long-term care of MSUD patients with psychiatric involvement, particularly in scenarios where mental disturbance could lead to noncompliance.
Assuntos
Doença da Urina de Xarope de Bordo , Transtornos Psicóticos , Humanos , Feminino , Transtornos Psicóticos/genética , Transtornos Psicóticos/patologia , Doença da Urina de Xarope de Bordo/genética , Doença da Urina de Xarope de Bordo/complicações , Adulto , Evolução Fatal , Leucina/sangueRESUMO
Neonatal pulmonary hemorrhage is a late manifestation of various diseases. Premature delivery and low body weight are frequently observed as high-risk factors, characterized by acute onset, rapid progression, and high mortality rates. Pulmonary hemorrhage caused by cytomegalovirus infection in newborns with normal immune function is a rare occurrence. This case report focuses on a term neonate with normal birth weight who presented solely with nasal obstruction shortly after birth. However, 4 days after birth, the newborn experienced a sudden onset of blood gushing from both the mouth and nasal cavity. The patient was diagnosed with gastrointestinal bleeding, neonatal pneumonia and neonatal lung consolidation. And he was discharged after ten days of symptomatic treatment. However, upon returning home, the patient experienced a sudden onset of bleeding from the mouth and nose, leading to his untimely demise. Subsequent autopsy revealed the presence of pulmonary hemorrhage in newborn, which presented as interstitial pneumonia. The cause of pulmonary hemorrhage is cytomegalovirus infection. This case emphasizes the importance of pediatricians enhancing their skills in differentiating pulmonary hemorrhage, especially from cytomegalovirus pneumonia.
Assuntos
Infecções por Citomegalovirus , Hemorragia , Humanos , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Recém-Nascido , Masculino , Evolução Fatal , Hemorragia/etiologia , Citomegalovirus , Pulmão/patologia , Pulmão/diagnóstico por imagem , Pulmão/virologia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/virologia , Autopsia , Pneumopatias/virologia , Pneumopatias/etiologiaRESUMO
We describe the case of a 57-year-old male with jaundice, abdominal distension and fatigue. He was diagnosed as chronic active Epstein-Barr virus infection (CAEBV) due to intermittent elevated liver enzymes, hepatosplenomegaly and pancytopenia, with persistent positive of EBV biomarkers in blood and also positive in liver tissue. The patient was reinfected by SARS-CoV-2 within 2 months companied with CAEBV. The patient's second infection with SARS-CoV-2 led to the aggravated liver dysfunction with pneumonia and re-admission. After receiving symptomatic treatment, the patient showed significantly improvement of symptoms with partially restoration of liver function. After discharge, the patient's health status continued to deteriorate and eventually died. The instances of SARS-CoV-2 co-infection with the original chronic virus are not uncommon, but the exact mechanism of EBV and SARS-CoV-2 coinfection and the relationship between them are still unclear. Since co-infection of SARS-CoV-2 with original chronic virus might affect each other and lead disease aggravated and complicated, it is necessary to differentiate in the diagnosis of disease and it is important to be aware of the re-infection signs of SARS-CoV-2 in people with chronic virus infection diseases, as well as the risk of co-infection of SARS-CoV-2 with other viruses.
Assuntos
COVID-19 , Coinfecção , Infecções por Vírus Epstein-Barr , Herpesvirus Humano 4 , Reinfecção , SARS-CoV-2 , Humanos , Masculino , COVID-19/diagnóstico , COVID-19/complicações , COVID-19/virologia , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/virologia , Pessoa de Meia-Idade , Reinfecção/virologia , Reinfecção/diagnóstico , Coinfecção/virologia , Coinfecção/diagnóstico , Herpesvirus Humano 4/genética , Doença Crônica , Evolução FatalRESUMO
Herein, we present the case of accidental intravenous injection of gasoline in a 62-year-old male who was admitted to a dialysis center for his regular hemodialysis. Due to previous contact with another SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) positive patient, the hemodialysis was conducted in an isolated room. At the end of the procedure, the nurse, wearing all necessary personal protective equipment (PPE), in the intent to clean the dialysis catheter, applied medical gasoline, instead of 0.9% sodium chloride, intravenously to the patient. Soon afterwards, the patient's clinical condition deteriorated, and cardiopulmonary resuscitation was started. Despite the immediate reaction of the medical staff, after two successful cardiopulmonary reanimation and necessary intensive care measures, the patient suffered respiratory, metabolic, and lactic acidosis, hypotension, and tachyarrhythmia and ultimately died 7 h after the incident. The autopsy was conducted under the order of the district attorney. Main autopsy findings were marked congestion; right pleural and pericardial effusion; brain and lung edema; enlarged heart with left ventricle thickening and mild perivascular fibrosis; nephrosclerosis; tubular thyroidization; and interstitial fibrosis with inflammation. Gasoline presence was indisputably proven by conducted toxicology analysis in lung, bile, and brain samples. Traces of gasoline could be noted in the patient's blood sample in comparison to the blood that did not contain gasoline, but it was not possible to confidently claim that gasoline was present in the blood. Based on relevant findings, we concluded that the death of the patient was violent and that the cause of death was acute intoxication by gasoline.
Assuntos
Gasolina , Diálise Renal , Humanos , Masculino , Pessoa de Meia-Idade , Gasolina/intoxicação , Evolução Fatal , COVID-19 , Injeções Intravenosas , Pulmão/patologiaRESUMO
The scientific literature contains little reliable data regarding new psychoactive substances and designer drugs, making it difficult to assess toxic blood levels and potentially lethal threshold. Here, we report a fatal co-intoxication involving two uncommon drugs â alpha-methyltryptamine (AMT) and 5-(2-methylaminopropyl)-benzofuran (5-MAPB) â combined with exposure to benzodiazepines, ephedrine, and norephedrine. AMT and 5-MAPB were quantified using ultra-high performance liquid chromatography coupled to tandem mass spectrometry (UHPLC/MS-MS), revealing concentrations of AMT 4690 ng/mL and 5-MAPB 101 ng/mL in postmortem peripheral blood. We additionally reviewed the literature to help interpret the likely roles of these molecules in the occurrence of death.
Assuntos
Benzofuranos , Humanos , Benzofuranos/intoxicação , Benzofuranos/sangue , Benzofuranos/análise , Masculino , Espectrometria de Massas em Tandem , Drogas Desenhadas/análise , Drogas Desenhadas/intoxicação , Cromatografia Líquida de Alta Pressão , Adulto , Evolução Fatal , Toxicologia Forense , PropilaminasRESUMO
Foreign body ingestion in children is a frequent cause for medical consultation. Although most foreign bodies are spontaneously eliminated from the gastrointestinal tract, life-threatening complications such as gastrointestinal obstruction or perforation can occur. We report the case of a 6-year-old boy who died 2 days after the onset of nausea and abdominal pain, with no foreign body ingestion witnessed or reported in the previous days. Autopsy showed a diffuse peritonitis and a perforation of the transverse colon caused by three high-powered magnets stacked together, and attached to the outer stomach wall via a fourth magnet located in the stomach. The cause of death was peritonitis due to bowel perforation by ingested magnets, which were shown to have come from a toy belonging to the child. Ingestion of multiple high-powered magnets carries a high risk of gastrointestinal complications and can exceptionally have a fatal outcome, especially as it often goes unreported and causes non-specific gastrointestinal symptoms that can delay diagnosis and management. This case highlights the need to raise public awareness of the potential risks of ingesting such magnets and to strengthen safety standards to protect children from this serious health hazard.
Assuntos
Corpos Estranhos , Perfuração Intestinal , Imãs , Peritonite , Humanos , Masculino , Criança , Perfuração Intestinal/etiologia , Corpos Estranhos/complicações , Imãs/efeitos adversos , Peritonite/etiologia , Jogos e Brinquedos , Evolução Fatal , Estômago/patologia , Colo Transverso/patologiaRESUMO
A senile male black capuchin monkey (Sapajus nigritus) kept under human care in a Zoo was found dead after 2 weeks presenting signals of weight loss and hyporexia. Histopathological revealed a necrotizing encephalitis. Although it was not observed microscopically, Sarcocystis sp infection was detected in brain tissue from molecular assays. These infections have been rarely described in neotropical primates, particularly associated with tissue lesions.
Assuntos
Doenças dos Macacos , Sarcocystis , Sarcocistose , Animais , Sarcocistose/veterinária , Sarcocistose/diagnóstico , Sarcocistose/parasitologia , Sarcocystis/isolamento & purificação , Sarcocystis/genética , Doenças dos Macacos/parasitologia , Doenças dos Macacos/diagnóstico , Masculino , Animais de Zoológico , Evolução Fatal , Encefalite/veterinária , Encefalite/parasitologia , Encefalite/diagnóstico , SapajusRESUMO
PURPOSE: Candida auris, an emerging multidrug-resistant yeast, has been reported worldwide. In Italy, the first case was reported in 2019. We describe the first case of C. auris, imported from Greece, in Milan, using whole genome sequencing to characterise mutations associated with antifungal resistance. CASE PRESENTATION: On October 2022 an 80-year-old Italian man was hospitalised in Greece. In the absence of clinical improvement, the patient was transferred to our hospital, in Italy, where blood culture resulted positive for C. auris. Despite therapy, the patient died of septic shock. In a phylogenetic analysis the genome was assigned to Clade I with strains from Kenya, United Arab Emirates and India. D1/D2 region resulted identical to a Greek strain, as for many other strains from different World regions, highlighting the diffusion of this strain. CONCLUSION: Importation of C. auris from abroad has been previously described. We report the first case of C. auris imported into Italy from Greece, according to phylogenetic analysis. This case reinforces the need for monitoring critically ill hospitalised patients also for fungi and addresses the need for the standardisation of susceptibility testing and strategies for diagnosis and therapy.
Assuntos
Antifúngicos , Candida auris , Candidíase , Filogenia , Humanos , Masculino , Itália , Idoso de 80 Anos ou mais , Grécia , Candidíase/microbiologia , Candidíase/tratamento farmacológico , Candidíase/diagnóstico , Antifúngicos/uso terapêutico , Candida auris/genética , Sequenciamento Completo do Genoma , Doenças Transmissíveis Importadas/microbiologia , Doenças Transmissíveis Importadas/diagnóstico , Evolução Fatal , Testes de Sensibilidade Microbiana , Candidíase InvasivaRESUMO
Erdheim-Chester disease (ECD) is a rare 'L' (Langerhans) group histiocytic neoplasm that affects a multitude of organ systems, causing osteosclerotic bone lesions, periaortic encasement ('coated' aorta), retroperitoneal fibrosis involving kidneys and ureters ('hairy kidney'), and infiltration of the central nervous system. Cardiovascular involvement can occur in up to 70% of patients and is usually found during computed tomography/magnetic resonance imaging evaluation. When present, cardiovascular symptoms can have wide variability in presentation from asymptomatic to pericarditis, fatal cardiac tamponade, myocardial infarction, conduction abnormalities, heart failure, renal artery stenosis, and claudication. Cardiac involvement found on imaging includes right atrial pseudotumor, right atrioventricular groove infiltration, and pericardial effusions. ECD can involve the large- and medium-sized arteries, often seen as periarterial thickening (commonly coating the aorta) with stenosis/occlusion. Although more cardiovascular ECD cases have begun to be published in the literature, more data are needed on the outcomes of these patients, as well as how cardiovascular manifestations respond to treatment of ECD.
Assuntos
Doença de Erdheim-Chester , Humanos , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/diagnóstico , Doença de Erdheim-Chester/tratamento farmacológico , Doença de Erdheim-Chester/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Feminino , Idoso , Evolução Fatal , Resultado do TratamentoRESUMO
Infective native aneurysms (INA) of the infrapopliteal arteries are rare and have previously been poorly described. This systematic review aims to provide an overview of the literature of this entity. Furthermore, two case reports of our own clinical experience are presented. PubMed, ScienceDirect, Cochrane, Ovid Embase, Ovid MEDLINE, and Web of Science were searched for articles on INAs of the infrapopliteal segment from January 1990 to September 2023. Article screening and selection were performed adhering to PRISMA guidelines. A total of 98 articles were screened and 20 were eligible for inclusion, of which all were case reports. In total, 22 patients with 28 infrapopliteal INAs were identified. The majority of INAs were located in the tibioperoneal trunk (n = 10, 36%) followed by the posterior tibial artery (n = 7, 25%). A current, or history of, infective endocarditis (IE) was described in 18 out of 22 patients (82%). Two patients died during hospitalization and one patient required a transfemoral amputation. A conservative antibiotic-only approach was chosen in three out of 28 INAs, two of which were the case reports described in this article; surgical or endovascular intervention was performed in 19 out of 28 aneurysms. No complications occurred in the conservative group, but one complication (transfemoral amputation) occurred in the interventional group. Infrapopliteal INA is a rare entity, and most described cases are precipitated by IE. Surgery or endovascular treatment might be indicated, but more research is warranted to define which patient would benefit and by what surgical approach.
Assuntos
Aneurisma Infectado , Antibacterianos , Artéria Poplítea , Humanos , Artéria Poplítea/cirurgia , Artéria Poplítea/diagnóstico por imagem , Artéria Poplítea/microbiologia , Aneurisma Infectado/microbiologia , Aneurisma Infectado/cirurgia , Aneurisma Infectado/diagnóstico por imagem , Aneurisma Infectado/diagnóstico , Aneurisma Infectado/mortalidade , Aneurisma Infectado/terapia , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Resultado do Tratamento , Antibacterianos/uso terapêutico , Procedimentos Endovasculares/efeitos adversos , Idoso de 80 Anos ou mais , Fatores de Risco , Amputação Cirúrgica , Adulto , Evolução FatalRESUMO
BACKGROUND: Tuberculosis (TB), one of the leading causes of death worldwide, has a higher incidence among indigenous people. Albeit uncommon, autoimmune hemolytic anemia (AIHA) has been deemed a risk condition to develop mycobacterial infection, as a result of the immunosuppressive treatments. TB, in turn, can be a predisposing factor for secondary infections. CASE PRESENTATION: Here we present a case of a 28-year-old indigenous woman from Colombia, previously diagnosed with AIHA and pulmonary TB. Despite various treatments, therapies and medical interventions, the patient died after severe medullary aplasia of multiple causes, including secondary myelotoxicity by immunosuppressive therapy and secondary disseminated infections, underlining infection by Staphylococcus aureus, Klebsiella pneumoniae and Candida glabrata, which were identified as drug-resistant microorganisms. Together, this led to significant clinical complications. Invasive aspergillosis was diagnosed at autopsy. CONCLUSIONS: This report presents a rarely finding of AIHA followed by TB, and highlights the great challenges of dealing with co-infections, particularly by drug resistant pathogens. It also aims to spur governments and public health authorities to focus attention in the prevention, screening and management of TB, especially among vulnerable communities, such as indigenous people.
Assuntos
Anemia Hemolítica Autoimune , Coinfecção , Humanos , Feminino , Adulto , Coinfecção/microbiologia , Evolução Fatal , Anemia Hemolítica Autoimune/complicações , Colômbia , Klebsiella pneumoniae/isolamento & purificação , Staphylococcus aureus/isolamento & purificação , Candida glabrata/isolamento & purificação , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/microbiologia , Infecções Estafilocócicas/microbiologia , Povos Indígenas , Candidíase/tratamento farmacológico , Candidíase/microbiologiaRESUMO
BACKGROUND: The incidence of Talaromyces marneffei (T. marneffei) infection has increased in recent years with the development of organ transplantation and the widespread use of immunosuppressive agents. However, the lack of clinical suspicion leading to delay or misdiagnosis is an important reason for the high mortality rate in non-human immunodeficiency virus (HIV) and non-endemic population. Herein, we report a case of disseminated T. marneffei infection in a non-HIV and non-endemic recipient after renal transplant, who initially presented with skin rashes and subcutaneous nodules and developed gastrointestinal bleeding. CASE PRESENTATION: We describe a 54-year-old renal transplantation recipient presented with scattered rashes, subcutaneous nodules and ulcerations on the head, face, abdomen, and right upper limb. The HIV antibody test was negative. The patient had no obvious symptoms such as fever, cough, etc. Histopathological result of the skin lesion sites showed chronic suppurative inflammation with a large number of fungal spores. Subsequent fungal culture suggested T. marneffei infection. Amphotericin B deoxycholate was given for antifungal treatment, and there was no deterioration in the parameters of liver and kidney function. Unfortunately, the patient was soon diagnosed with gastrointestinal bleeding, gastrointestinal perforation and acute peritonitis. Then he rapidly developed multiple organ dysfunction syndrome and abandoned treatment. CONCLUSIONS: The risk of fatal gastrointestinal bleeding can be significantly increased in kidney transplant patients with T. marneffei infection because of the long-term side effects of post-transplant medications. Strengthening clinical awareness and using mNGS or mass spectrometry technologies to improve the detection rate and early diagnosis of T. marneffei are crucial for clinical treatment in non-HIV and non-endemic population.
Assuntos
Transplante de Rim , Micoses , Talaromyces , Transplantados , Humanos , Masculino , Pessoa de Meia-Idade , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Ácido Desoxicólico , Dermatomicoses/diagnóstico , Dermatomicoses/microbiologia , Dermatomicoses/tratamento farmacológico , Combinação de Medicamentos , Evolução Fatal , Transplante de Rim/efeitos adversos , Micoses/diagnóstico , Micoses/tratamento farmacológico , Micoses/microbiologia , Talaromyces/isolamento & purificaçãoRESUMO
BACKGROUND: Anaplastic thyroid carcinoma(ATC) is a rare pathological type of thyroid malignancy. Primary squamous cell carcinoma of thyroid(PSCCT) is now considered as a subtype of ATC, hereinafter referred to as ATC-SCC subtype. ATC-SCC subtype combined with follicular thyroid carcinoma is exceedingly rare, with fewer cases reported. The ATC-SCC subtype is a highly invasive tumor with a poor prognosis for patients after metastasis occurs, and current treatment of this type of tumor is tricky. CASE PRESENTATION: A 68-year-old female patient presented with a gradually growing swelling of right cervical region. Comprehensive auxiliary examinations and postoperative pathology confirmed the diagnosis of ATC-SCC subtype with follicular thyroid carcinoma, and the metastasis squamous cell carcinoma of the right cervical lymph nodes originates from ATC-SCC subtype. The patient received chemoradiotherapy postoperative. However, the residual cervical lymph nodes metastasis with squamous cell carcinoma still infiltrated surrounding structures in the neck extensively after palliative resection. The patient died 7 months after surgery. CONCLUSION: Our case highlights that cervical lymph node metastasis may be a significant factor in the poor prognosis of ATC-SCC subtype. This malignancy should be detected and treated early.
Assuntos
Adenocarcinoma Folicular , Metástase Linfática , Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Feminino , Idoso , Neoplasias da Glândula Tireoide/patologia , Adenocarcinoma Folicular/patologia , Adenocarcinoma Folicular/secundário , Carcinoma Anaplásico da Tireoide/patologia , Carcinoma Anaplásico da Tireoide/diagnóstico , Carcinoma Anaplásico da Tireoide/terapia , Prognóstico , Evolução Fatal , Pescoço/patologia , Linfonodos/patologia , Carcinoma de Células Escamosas/secundário , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/diagnósticoRESUMO
BACKGROUND AND PURPOSE: Cerebrovascular events during thrombolysis in cardiac arrest (CA) caused by pulmonary embolism (PE) is a life-threatening condition. However, the balance between cerebrovascular events and thrombolytic therapy in PE-induced CA remains a great challenge. METHODS: In this study, we reported three unique cases regarding main concerns surrounding cerebrovascular events in thrombolytic therapy in PE-induced CA. RESULTS: The patient in the case 1 treated with thrombolysis during CPR and finally discharged neurologically intact. The patient in the case 2 received delayed thrombolysis and died eventually. The patient in the case 3 was contraindicated to thrombolysis due to the complication of subarachioid hemorrahage and died within days. CONCLUSIONS: Our case series highlights three proposed approaches to consider before administering thrombolysis as a treatment option in PE-induced CA patients: (1) prolonging the resuscitation, (2) administering thrombolysis promptly, and (3) ruling out cerebrovascular events.
Assuntos
Fibrinolíticos , Parada Cardíaca , Embolia Pulmonar , Terapia Trombolítica , Humanos , Embolia Pulmonar/tratamento farmacológico , Embolia Pulmonar/diagnóstico por imagem , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/etiologia , Terapia Trombolítica/efeitos adversos , Masculino , Parada Cardíaca/diagnóstico , Parada Cardíaca/etiologia , Parada Cardíaca/terapia , Fibrinolíticos/efeitos adversos , Fibrinolíticos/administração & dosagem , Resultado do Tratamento , Pessoa de Meia-Idade , Idoso , Evolução Fatal , Feminino , Reanimação Cardiopulmonar , Fatores de Risco , Tempo para o Tratamento , Fatores de Tempo , Tomada de Decisão ClínicaRESUMO
Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in combination, are the most frequent, but underestimated, causes of SCD. Molecular autopsy is essential for prevention. Several studies have shown an association between genetic cardiomyopathies and viral myocarditis, which is probably underestimated due to insufficient post-mortem investigations. We report on four autopsy cases illustrating the pathogenesis of these combined pathologies. In two cases, a genetic hypertrophic cardiomyopathy was diagnosed in combination with Herpes Virus Type 6 (HHV6) and/or Parvovirus-B19 (PVB19) in the heart. In the third case, autopsy revealed a dilated cardiomyopathy and virological analyses revealed acute myocarditis caused by three viruses: PVB19, HHV6 and Epstein-Barr virus. Genetic analyses revealed a mutation in the gene coding for desmin. The fourth case illustrated a channelopathy and a PVB19/HHV6 coinfection. Our four cases illustrate the highly probable deleterious role of cardiotropic viruses in the occurrence of SCD in subjects with genetic cardiomyopathies. We discuss the pathogenetic link between viral myocarditis and genetic cardiomyopathy. Molecular autopsy is essential in prevention of these SCD, and a close collaboration between cardiologists, pathologists, microbiologists and geneticians is mandatory.
Assuntos
Autopsia , Morte Súbita Cardíaca , Herpesvirus Humano 6 , Miocardite , Parvovirus B19 Humano , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/virologia , Cardiomiopatia Dilatada/patologia , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/patologia , Causas de Morte , Coinfecção , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/patologia , Morte Súbita Cardíaca/prevenção & controle , Infecções por Vírus Epstein-Barr/complicações , Evolução Fatal , Predisposição Genética para Doença , Herpesvirus Humano 4/genética , Herpesvirus Humano 6/genética , Herpesvirus Humano 6/isolamento & purificação , Mutação , Miocardite/virologia , Miocardite/patologia , Miocardite/genética , Infecções por Parvoviridae/complicações , Parvovirus B19 Humano/genética , Infecções por Roseolovirus/complicações , Infecções por Roseolovirus/virologia , Infecções por Roseolovirus/diagnóstico , Infecções por Roseolovirus/patologiaRESUMO
Diffuse intrinsic pontine gliomas are lethal tumors with a prognosis generally less than 1 year. Few cases of survivors of 5 years or more have been reported. This case report highlights the journey of a 9.5-year survivor who underwent 3 rounds of focal radiotherapy; she experienced 6 years of progression-free survival following the first round but ultimately succumbed to her disease. An autopsy revealed a favorable IDH1 mutation and the absence of H3K27M. This case reiterates the importance of extensive molecular analyses in diffuse intrinsic pontine gliomas and explores the potential benefit of re-irradiation in patients with positive responses and long periods of remission.
Assuntos
Neoplasias do Tronco Encefálico , Glioma Pontino Intrínseco Difuso , Humanos , Feminino , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Tronco Encefálico/terapia , Neoplasias do Tronco Encefálico/mortalidade , Glioma Pontino Intrínseco Difuso/patologia , Glioma Pontino Intrínseco Difuso/terapia , Glioma Pontino Intrínseco Difuso/genética , Criança , Sobrevivência , Sobreviventes de Câncer , Evolução Fatal , Isocitrato Desidrogenase/genética , Prognóstico , MutaçãoRESUMO
A 1-week-old girl died suddenly and unexpectedly. At autopsy the major finding was of a right dominant coronary artery circulation with an inapparent left coronary artery ostium. After careful examination, an anomalous origin of the left coronary artery was found with the ostium located in the non-coronary cusp immediately adjacent to the commissure of the non- and left coronary cusps. The ostium was of small caliber with an obliquely oriented artery (<45°) with no ostial ridges. The artery coursed anteriorly past the left coronary cusp between the aorta and the left atrial appendage to then follow its usual course inferiorly along the anterior aspect of the left ventricle. The reminder of the autopsy was unremarkable. Death was, therefore, attributed to an anomalous and hypoplastic left coronary artery (and ostium) with an acute angle of take-off. Tracing coronary arteries in the very young may be technically difficult due to their small size, thus identifying the location of ostia is important. This may be difficult when the ostium was located close to a commissure.