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Hormones (Athens, Greece) Oct 2017Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine...
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC. The patient had a history of other neoplasias, such as acute myeloid leukemia, for which she had received chemotherapy, and two other solid tumors, peritoneal mesothelioma and meningioma. Genetic analyses were carried out including whole exome and Sanger sequencing (WES and SS) and loss-of-heterozygosity (LOH) testing for the respective loci. Immunohistochemistry (IHC) was used for the detection of proteins of interest. WES showed two germline variants in the APC and RASAL1 genes confirmed by SS. In MTC tissue only there was a RETvariant identified by SS; germline studies did not show any RETsequence changes. The pattern of tumors in this patient is unusual for either one of the APC- orRASAL1-associated neoplasms and her non-MEN 2-associated MTC contained a RET variant like other sporadic MTCs. As in other patients with more than one genetic variant predisposing to tumors, it is possible that this case represents a unique association.
Topics: Carcinoma, Neuroendocrine; Female; GTPase-Activating Proteins; Genes, APC; Germ-Line Mutation; Humans; Leukemia, Myeloid, Acute; Meningeal Neoplasms; Meningioma; Mesothelioma; Middle Aged; Peritoneal Neoplasms; Thyroid Neoplasms
PubMed: 29518763
DOI: 10.14310/horm.2002.1763 -
Revista de Neurologia Feb 2015Leukaemia is the most frequent type of cancer at the paediatric age. The cure rate is 80% with intensive chemotherapy, which improves survival but also often increases...
INTRODUCTION
Leukaemia is the most frequent type of cancer at the paediatric age. The cure rate is 80% with intensive chemotherapy, which improves survival but also often increases the frequency of adverse side effects, including those of a neurological nature.
AIMS
To describe the frequency and characteristics of the neurological complications (NC) in patients with acute lymphoid leukaemia (ALL) and acute myeloid leukaemia (AML), as well as to identify factors associated to their presence, neurological morbidity and survival rate.
PATIENTS AND METHODS
A retrospective study was conducted of the NC present in patients with ALL and AML between 1997 and 2012 treated and followed up by the child onco-haematology unit. The following variables were analysed: demographic data, oncological diagnosis, treatment and NC.
RESULTS
Altogether 157 patients were included, 145 without infiltration of the central nervous system at diagnosis and eight with infiltration (rate of NC of 14% and 12%, respectively). The most frequent NC were: neuropathies (31%), altered levels of consciousness (27%), convulsions (22%) and headache (12%). Forty per cent of the patients with NC presented sequelae but none of them died as a consequence of the NC. More NC were detected in the age group of children aged under 6 years with high-degree ALL, at higher levels of severity and in patients who had received a haematopoietic stem-cell transplant, all of them with statistically significant differences.
CONCLUSIONS
Neurological complications are common in patients with acute leukaemia, especially in those at a high-risk stage (above all if they are under the age of 6 years) and with haematopoietic stem-cell transplant. The associated mortality rate is low.
Topics: Adolescent; Antineoplastic Combined Chemotherapy Protocols; Brain; Child; Child, Preschool; Combined Modality Therapy; Consciousness Disorders; Cranial Irradiation; Female; Headache; Hematopoietic Stem Cell Transplantation; Humans; Infant; Kaplan-Meier Estimate; Leukemia, Myeloid, Acute; Leukemic Infiltration; Male; Meninges; Nervous System Diseases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Retrospective Studies; Seizures; Survivors; Transplantation Conditioning
PubMed: 25624086
DOI: No ID Found -
International Journal of Infectious... Aug 2014To evaluate reported cases of central nervous system (CNS) infections due to vancomycin-resistant enterococci (VRE) and describe the data necessary to better understand... (Review)
Review
OBJECTIVES
To evaluate reported cases of central nervous system (CNS) infections due to vancomycin-resistant enterococci (VRE) and describe the data necessary to better understand clinical characteristics of this rare disease process.
METHODS
We report two cases of VRE CNS infection and review 36 cases reported in the literature.
RESULTS
Eighty-two percent (31/38) of cases were due to Enterococcus faecium. The median length of stay prior to diagnosis was 14 days (interquartile range 9-33). Fifty-eight percent (22/38) of cases had significant underlying non-malignant CNS disease processes and 63% (24/38) had CNS devices in situ. Forty percent (15/38) of patients had other positive culture sites. Ninety-two percent (35/38) of patients experienced microbiological cure and 74% (28/38) experienced clinical and microbiological cure following a variety of antimicrobial therapies. Seventy-four percent (14/19) of patients who experienced clinical/microbiological cure with CNS devices had them either removed or replaced. Eighteen percent (7/38) died from VRE CNS infections.
CONCLUSIONS
VRE CNS infections are uncommon nosocomial infections that most commonly affect patients with underlying CNS disease processes. The vast majority of cases are due to E. faecium, and many cases involve multiple positive culture sites. Optimal antimicrobial therapy remains undefined, but should be coupled with removal or replacement of indwelling CNS devices.
Topics: Adult; Anti-Bacterial Agents; Central Nervous System Bacterial Infections; Coinfection; Cord Blood Stem Cell Transplantation; Cross Infection; Cytomegalovirus Infections; Fatal Outcome; Female; Gram-Positive Bacterial Infections; Humans; Leukemia, Myeloid, Acute; Male; Microbial Sensitivity Tests; Vancomycin-Resistant Enterococci; Young Adult
PubMed: 24846601
DOI: 10.1016/j.ijid.2014.01.009 -
Neurology India 2023Acute lymphoblastic leukaemia/lymphoma (ALL) is a systemic disease which primarily involves bone marrow or lymphoid organs. Extranodal presentation of ALL is uncommon,... (Review)
Review
Acute lymphoblastic leukaemia/lymphoma (ALL) is a systemic disease which primarily involves bone marrow or lymphoid organs. Extranodal presentation of ALL is uncommon, and ALL presenting as a dural mass is exceedingly rare. Here we present a case of primary dural B-cell ALL which was preoperatively diagnosed as meningioma on clinico-radiological grounds. A 27-year-old female patient presented with left hemicranial headache for one month's duration along with progressive vision loss of in both eye and altered behaviour. Contrast enhanced magnetic resonance imaging (CE-MRI) suggest dural based mass with dural tail sign. Histopathological examination of the resected specimen revealed B-cell ALL. Further systemic investigations didn't suggest any peripheral blood, bone marrow or lymph node involvement. To the best of our knowledge, only two cases of primary dural ALL have been reported in the literature so far. This report highlights the diagnostic difficulty in extramedullary precursor lymphoid neoplasm.
Topics: Female; Humans; Adult; Meningioma; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lymphoma; Radiography; Meningeal Neoplasms
PubMed: 37929440
DOI: 10.4103/0028-3886.388108 -
Heliyon Jan 2024To report and analyze the clinical characteristics of 15 patients with Listeria meningitis in adult.
OBJECTIVE
To report and analyze the clinical characteristics of 15 patients with Listeria meningitis in adult.
METHODS
We reviewed the medical records of 15 patients with Listeria meningitis who were admitted to Shanxi Bethune Hospital between January 2017 and January 2023.
RESULTS
The clinical manifestations was primarily characterized by fever, altered mental status, headache, neck stiffness, and vomiting. Blood or cerebrospinal fluid (CSF) cultures were performed in 15 cases, and pathogens were detected in 11 of them. Metagenomic next-generation sequencing (mNGS) detected pathogens in 10 cases, with four being negative by conventional methods and six being positive through traditional tests. The laboratory blood results presented leukocytosis. The CSF analysis upon admission showed elevated levels of white blood cells and proteins, as well as decreased chloride and glucose concentration. The brain computed tomography (CT) revealed ventricular enlargement in 3 patients. The brain magnetic resonance imaging (MRI) showed abnormalities in multiple areas of the brain. Despite 3 patients with decompensated hydrocephalus underwent lateral ventricle puncture and drainage,their neurological deterioration were increasingly deteriorating.7 patients were treated by mechanical ventilation due to respiratory insufficiency. After 3 months, there were 9 cases with excellent outcomes(modified Rankin Scale score of 0-2),2 cases with favorable outcomes(score of 3-5), and 4 deaths(score of 6).
CONCLUSIONS
This thesis found that the detection rate of has been on a rise over the past six years in our department, ranking second only to . Additionally, the detection rate achieved by mNGS surpasses that of other conventional methods. Among the patient cohort, 11 had underlying diseases such as systemic lupus erythematosus, tuberculosis, diabetes mellitus, pituitary neoplasms, leukemia and other related illnesses. Once listeriosis is early identified, the adequate antibiotic therapy should be promptly introduced in the course of empirical treatment.
PubMed: 38223708
DOI: 10.1016/j.heliyon.2023.e23755 -
Cureus Jul 2019Objective The purpose of this study was to assess the risk of hemorrhagic complications in thrombocytopenic patients after Ommaya reservoir placement. Methods Between...
Objective The purpose of this study was to assess the risk of hemorrhagic complications in thrombocytopenic patients after Ommaya reservoir placement. Methods Between 2009 and 2017, 192 patients were identified on the National Neoplastic Meningitis Registry and had undergone Ommaya reservoir placement for intrathecal chemotherapy. A retrospective chart review was performed to collect the preoperative and postoperative platelet levels, whether or not the patient received any transfusion of platelets, neurological exams, and whether a postoperative head CT was obtained. Using generally accepted recommendations, a platelet level less than 100,000/μL was considered clinically significant and used as our threshold for thrombocytopenia. Results Seven patients (3.6%) were identified as thrombocytopenic in our patient population with platelet counts ranging from 54,000 to 99,000/μL. Primary diagnoses for the seven patients included leukemia, prostate cancer, primary brain cancer (four patients), and lung cancer (non-small-cell lung carcinoma). One patient received platelet transfusions preoperatively. Three patients had a routine head CT obtained postoperatively with no abnormal findings noted. There were no changes in the neurological exam noted in all of the patients included in this study. No clinically significant hemorrhages were identified in our patients. Conclusions From our single institutional experience, we found that thrombocytopenia is fairly uncommon, found in only 3.6% of our patients undergoing placement of Ommaya reservoirs. We did not encounter any increased risks of postoperative hemorrhage in studied thrombocytopenic patients.
PubMed: 31576280
DOI: 10.7759/cureus.5291 -
Bone Marrow Transplantation Aug 2015The impact of extramedullary disease (EMD) in AML on the outcomes of allogeneic hematopoietic cell transplantation (alloHCT) is unknown. Using data from the Center for... (Observational Study)
Observational Study
The impact of extramedullary disease (EMD) in AML on the outcomes of allogeneic hematopoietic cell transplantation (alloHCT) is unknown. Using data from the Center for International Blood and Marrow Transplant Research, we compared the outcomes of patients who had EMD of AML at any time before transplant, with a cohort of AML patients without EMD. We reviewed data from 9797 AML patients including 814 with EMD from 310 reporting centers and 44 different countries, who underwent alloHCT between and 1995 and 2010. The primary outcome was overall survival (OS) after alloHCT. Secondary outcomes included leukemia-free survival (LFS), relapse rate and treatment-related mortality (TRM). In a multivariate analysis, the presence of EMD did not affect either OS (hazard ratio 1.00, 95% confidence interval (CI) 0.91-1.09), LFS (0.98, 0.89-1.09), TRM (relative risk 0.92, 95% CI 0.80-1.16, P=0.23) or relapse (relative risk=1.03, 95% CI, 0.92-1.16; P=0.62). Furthermore, the outcome of patients with EMD was not influenced by the location, timing of EMD, or intensity of conditioning regimen. The presence of EMD in AML does not affect transplant outcomes and should not be viewed as an independent adverse prognostic feature.
Topics: Adolescent; Adult; Aged; Allografts; Hematopoietic Stem Cell Transplantation; Humans; Leukemia, Myeloid, Acute; Meningeal Neoplasms; Middle Aged; Neoplasms, Second Primary; Sarcoma, Myeloid; Skin Neoplasms
PubMed: 25915806
DOI: 10.1038/bmt.2015.82 -
Environment International Dec 2021The World Health Organization (WHO) has an ongoing project to assess potential health effects of exposure to radiofrequency electromagnetic fields (RF-EMF) in the...
BACKGROUND
The World Health Organization (WHO) has an ongoing project to assess potential health effects of exposure to radiofrequency electromagnetic fields (RF-EMF) in the general and working population. Here we present the protocol for a systematic review of the scientific literature on cancer hazards from exposure to RF-EMF in humans, commissioned by the WHO as part of that project.
OBJECTIVE
To assess the quality and strength of the evidence provided by human observational studies for a causal association between exposure to RF-EMF and risk of neoplastic diseases.
ELIGIBILITY CRITERIA
We will include cohort and case-control studies investigating neoplasia risks in relation to three types of exposure to RF-EMF: near-field, head-localized, exposure from wireless phone use (SR-A); far-field, whole body, environmental exposure from fixed-site transmitters (SR-B); near/far-field occupational exposures from use of handheld transceivers or RF-emitting equipment in the workplace (SR-C). While no restriction on tumour type will be applied, we will focus on selected neoplasms of the central nervous system (brain, meninges, pituitary gland, acoustic nerve) and salivary gland tumours (SR-A); brain tumours and leukaemias (SR-B, SR-C).
INFORMATION SOURCES
Eligible studies will be identified through Medline, Embase, and EMF-Portal.
RISK-OF-BIAS ASSESSMENT
We will use a tailored version of the OHAT's tool to evaluate the study's internal validity.
DATA SYNTHESIS
We will consider separately studies on different tumours, neoplasm-specific risks from different exposure sources, and a given exposure-outcome pair in adults and children. When a quantitative synthesis of findings can be envisaged, the main aims of the meta-analysis will be to assess the strength of association and the shape of the exposure-response relationship; to quantify the degree of heterogeneity across studies; and explore the sources of inconsistency (if any). When a meta-analysis is judged inappropriate, we will perform a narrative synthesis, complemented by a structured tabulation of results and appropriate visual displays.
EVIDENCE ASSESSMENT
Confidence in evidence will be assessed in line with the GRADE approach.
FUNDING
This project is supported by the World Health Organization. Co-financing was provided by the New Zealand Ministry of Health; the Istituto Superiore di Sanità in its capacity as a WHO Collaborating Centre for Radiation and Health; ARPANSA as a WHO Collaborating Centre for Radiation Protection.
REGISTRATION
PROSPERO CRD42021236798.
Topics: Adult; Brain Neoplasms; Cell Phone; Child; Electromagnetic Fields; Environmental Exposure; Humans; Meta-Analysis as Topic; Radio Waves
PubMed: 34433115
DOI: 10.1016/j.envint.2021.106828 -
BMJ Case Reports Jun 2018Chronic Myeloid Leukaemia (CML) presenting with isolated Central Nervous System (CNS) blast crisis is an uncommon entity. A 22-year-old man, diagnosed with chronic phase...
Chronic Myeloid Leukaemia (CML) presenting with isolated Central Nervous System (CNS) blast crisis is an uncommon entity. A 22-year-old man, diagnosed with chronic phase CML in 2011 and was in haematological and cytogenetic remission until July 2016, had acute onset headache and vomiting with meningeal signs and was admitted elsewhere, investigated by brain imaging and cerebrospinal fluid (CSF) analysis and suspected to have tubercular meningitis, for which steroids and antitubercular medications were started. The patient's sensorium further deteriorated, and Ventriculoperitoneal shunt surgery was done for hydrocephalus by a neurosurgeon. After 2 months of the illness, he was admitted to our hospital with a persistent headache, vomiting and altered sensorium. CSF for cytospin confirmed myeloid blasts. He was still in haematological remission. So, a diagnosis of isolated CNS blast crisis was made. The patient was started on triple intrathecal chemotherapy and cranial radiotherapy. He had improvement with treatment and is still in remission.
Topics: Adult; Antitubercular Agents; Blast Crisis; Central Nervous System; Diagnostic Errors; Drug Therapy; Fever; Granulocyte Precursor Cells; Headache; Humans; Injections, Spinal; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Male; Rare Diseases; Treatment Outcome; Tuberculosis, Meningeal
PubMed: 29895576
DOI: 10.1136/bcr-2017-223923 -
Nature Communications May 2018The thioredoxin-1 (Trx1) system is an important contributor to cellular redox balance and is a sensor of energy and glucose metabolism. Here we show critical...
The thioredoxin-1 (Trx1) system is an important contributor to cellular redox balance and is a sensor of energy and glucose metabolism. Here we show critical c-Myc-dependent activation of the Trx1 system during thymocyte and peripheral T-cell proliferation, but repression during T-cell quiescence. Deletion of thioredoxin reductase-1 (Txnrd1) prevents expansion the CD4CD8 thymocyte population, whereas Txnrd1 deletion in CD4CD8 thymocytes does not affect further maturation and peripheral homeostasis of αβT cells. However, Txnrd1 is critical for expansion of the activated T-cell population during viral and parasite infection. Metabolomics show that TrxR1 is essential for the last step of nucleotide biosynthesis by donating reducing equivalents to ribonucleotide reductase. Impaired availability of 2'-deoxyribonucleotides induces the DNA damage response and cell cycle arrest of Txnrd1-deficient T cells. These results uncover a pivotal function of the Trx1 system in metabolic reprogramming of thymic and peripheral T cells and provide a rationale for targeting Txnrd1 in T-cell leukemia.
Topics: Animals; Bone Marrow Transplantation; Carrier Proteins; Cell Line; Cell Proliferation; Cellular Reprogramming; DNA; Deoxyribonucleotides; Disease Models, Animal; Down-Regulation; Female; Humans; Leishmania major; Leishmaniasis, Cutaneous; Lymphocytic Choriomeningitis; Lymphocytic choriomeningitis virus; Male; Metabolomics; Mice, Inbred C57BL; Mice, Transgenic; T-Lymphocytes; Thioredoxin Reductase 1; Thioredoxins; Transplantation Chimera
PubMed: 29749372
DOI: 10.1038/s41467-018-04274-w