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About 334,420 results

Reduced mortality from KPC-K.pneumoniae bloodstream infection in high-risk patients wit...
https://doi.org/10.1186/s12879-021-06747-8 10.1093/cid/ciu052 10.3201/eid2007.130094 10.1007/s10096-014-2233-5 10.1038/bmt.2014.231 10.1016/j.ijantimicag.2016.01.011 10.1080/21505594.2016.1213472 10.1002/ajh.24489 10.1186/s12879-017-2297-9 10.1038/bmt.2016.234 10.1007/s00277-018-3341-6 10.1111/j.1469-0691.2011.03514.x 10.1016/j.cmi.2017.08.030 10.1200/JCO.2013.51.6963 10.1111/1469-0691.12747 10.1016/j.cmi.2014.08.001 10.1093/jac/dkw337 10.3324/haematol.2013.091025 10.1517/14656566.2016.1145658 10.1111/1469-0691.12070 10.1093/cid/cis588 10.1093/infdis/jis766 10.1128/AAC.02166-13 10.1093/cid/cix783 10.1093/cid/ciy492 10.1007/s40265-017-0851-9 10.1016/j.ijid.2017.03.021 10.1093/cid/ciw639 10.1016/j.cmi.2019.11.011
BMC Infectious Diseases; Micozzi A, Gentile G et. al.

Oct 21st, 2021 - KPC-K.pneumoniae bloodstream infection (KPC-KpBSI) mortality rate in patients with hematological malignancies is reported about 60%. The initial treatment active against KPC-K.pneumoniae is crucial for survival and KPC-K.pneumoniae rectal colonization usually precedes KPC-KpBSI. We evaluated the impact on KPC-KpBSI mortality of the preemptive use of antibiotics active against KPC-K.pneumoniae, ...

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chine...
https://doi.org/10.1186/s12883-021-02399-y 10.1212/WNL.0000000000001002 10.1136/jmedgenet-2016-104064 10.1016/j.ajhg.2020.12.002 10.1007/s10072-004-0233-4
BMC Neurology; Xue YY, Cheng HL et. al.

Oct 21st, 2021 - Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodystrophy, which is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. To date, only one study has reported the demyelinating peripheral neur...

Variants identified by next-generation sequencing cause endoplasmic reticulum stress in...
https://doi.org/10.1186/s12886-021-02110-2 10.1001/archopht.125.2.151 10.1016/s0140-6736(06)69740-7 10.1016/j.preteyeres.2018.03.005 10.1016/0002-9394(84)90636-6 10.1111/j.1399-0004.1987.tb02804.x 10.1007/978-1-4614-3209-8_16 10.1167/iovs.05-1443 10.1146/annurev.cellbio.16.1.365 10.1016/j.preteyeres.2017.10.002 10.1021/ja303286e 10.1038/nrg2717 10.1016/0022-2836(69)90114-4 10.1167/iovs.12-10967 10.1093/hmg/1.1.41 10.1007/s10792-019-01099-4 10.1093/nar/gku316 10.1002/elps.200900140 10.1016/0378-1119(89)90358-2 10.1073/pnas.0911991107 10.1021/bi00186a011 10.1016/j.molmed.2005.02.007 10.1038/s41419-019-1381-z 10.1038/nrm2199 10.1038/343364a0 10.1056/NEJM199011083231903 10.1016/j.preteyeres.2017.10.002 10.1038/gim.2012.73 10.1126/science.1209038 10.1038/415092a 10.1126/science.1146361
BMC Ophthalmology; Wang Y, Chen X et. al.

Oct 21st, 2021 - Rhodopsin (RHO) is the most well-known genetic cause of autosomal dominant retinitis pigmentosa (adRP). This study aimed to investigate the genetic cause of a large Chinese adRP family and assess the pathogenicity of the detected RHO mutant. Routine ocular examinations were conducted on all participants. Next-generation sequencing with targeted capture was performed to screen mutations in 179 g...

Midbrain infarction in inherited protein S deficiency: a rare association.
https://doi.org/10.1136/bcr-2021-246073
BMJ Case Reports; Chandra M, Chandra A et. al.

Oct 21st, 2021 - Inherited thrombophilic disorders are well-established predisposing factors for venous thromboembolism, but their role in arterial ischaemic stroke is uncertain. The exact mechanism of arterial thrombosis in thrombophilias remains elusive. Herein, we report a case of a 30-year-old woman who was admitted to our facility with sudden-onset right-sided ptosis and ophthalmoplegia. Detailed clinical ...

Cyclin-dependent kinase 19 upregulation correlates with an unfavorable prognosis in hep...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518165
BMC Gastroenterology; Cai X, Deng J et. al.

Oct 16th, 2021 - Cyclin-dependent kinase 19 (CDK19) is a component of the mediator coactivator complex, which is required for transcriptional activation. In this study, we utilized public databases and wet-bench hepatic cell line experiments to elucidate the potential roles of CDK19 in hepatocellular cancer (HCC). We studied the relationships between CDK19 expression and several clinical features related to HCC...

Atypical presentations of non-familial anterior megalophthalmos: a rare disease.
https://doi.org/10.1136/bcr-2021-244350
BMJ Case Reports; Rao A, Dcruz RP

Oct 15th, 2021 - Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients (four eyes) with non-familial megalophthalmos. While the first patient, a male, presented at 51 years of age wit...

Next-generation sequencing of cerebrospinal fluid for diagnosis of atypical herpes simp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8521769
The Journal of International Medical Research; Kang Z, Jin X et. al.

Oct 14th, 2021 - Herpes simplex encephalitis (HSE) is one of the most common causes of severe viral encephalitis. The characteristic manifestations of HSE include cerebrospinal fluid with mild cytopenia, dominated by lymphocytes, elevated protein, and normal blood glucose values (3.9-6.1 mmol/L). Although it is not difficult to diagnose classical HSE, diagnosing clinically atypical cases is more difficult. We r...

Molecular characterization of rpoB gene mutations in isolates from tuberculosis patient...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507306
BMC Infectious Diseases; Rando-Segura A, Aznar ML et. al.

Oct 14th, 2021 - The importance of Mycobacterium tuberculosis strains with disputed rpoB mutations remains to be defined. This study aimed to assess the frequency and types of rpoB mutations in M. tuberculosis isolates from Cubal, Angola, a country with a high incidence of tuberculosis. All isolates included (n = 308) were analyzed using phenotypic drug susceptibility testing and GenoType MTBDRplus assay. DNA s...

Virulence Factors Associated With Escherichia coli Bacteremia and Urinary Tract Infection.
https://doi.org/10.3343/alm.2022.42.2.203
Annals of Laboratory Medicine; Kim B, Kim JH et. al.

Oct 13th, 2021 - Extraintestinal pathogenic Escherichia coli (ExPEC) causes various infections, including urinary tract infection (UTI), sepsis, and neonatal meningitis. ExPEC strains have virulence factors (VFs) that facilitate infection by allowing bacterial cells to migrate into and multiply within the host. We compared the microbiological characteristics of ExPEC isolates from blood and urine specimens from...

Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spino...
https://doi.org/10.3343/alm.2022.42.2.274
Annals of Laboratory Medicine; Jang JH, Yoon SJ et. al.

Oct 13th, 2021 - Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disease caused by abnormal CAG repeat expansion in the ataxin 1 gene (ATXN1). The presence of CAT interruption(s) is important for diagnosing SCA1 in patients with 39-44 repeat alleles, as only uninterrupted alleles are considered abnormal. Determining the CAT interruption status might also be important for patients with >44 repeats,...

A novel class of TMPRSS2 inhibitors potently block SARS-CoV-2 and MERS-CoV viral entry ...
https://doi.org/10.1073/pnas.2108728118
Proceedings of the National Academy of Sciences of the Un... Mahoney M, Damalanka VC et. al.

Oct 13th, 2021 - The host cell serine protease TMPRSS2 is an attractive therapeutic target for COVID-19 drug discovery. This protease activates the Spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and of other coronaviruses and is essential for viral spread in the lung. Utilizing rational structure-based drug design (SBDD) coupled to substrate specificity screening of TMPRSS2, we ha...

Butyrophilin-like 9 expression is associated with outcome in lung adenocarcinoma.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507344
BMC Cancer; Ma W, Liang J et. al.

Oct 13th, 2021 - Lung adenocarcinoma (LUAD) is the most prevalent non-small cell lung cancer (NSCLC). Patients with LUAD have a poor 5-year survival rate. The use of immune checkpoint inhibitors (ICIs) for the treatment of LUAD has been on the rise in the past decade. This study explored the prognostic role of butyrophilin-like 9 (BTNL9) in LUAD. Gene expression profile of buytrophilins (BTNs) was determined us...

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504003
BMC Ophthalmology; Liu W, Guo R et. al.

Oct 13th, 2021 - To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-M...

Epigenetic targeting of the ACE2 and NRP1 viral receptors limits SARS-CoV-2 infectivity.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504098
Clinical Epigenetics; Saiz ML, De Diego ML et. al.

Oct 13th, 2021 - SARS-CoV-2 uses the angiotensin-converting enzyme 2 (ACE2) and neuropilin-1 (NRP1) receptors for entry into cells, and the serine protease TMPRSS2 for S protein priming. Inhibition of protease activity or the engagement with ACE2 and NRP1 receptors has been shown to be an effective strategy for blocking infectivity and viral spreading. Valproic acid (VPA; 2-propylpentanoic acid) is an epigeneti...

Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia:...
https://doi.org/10.1186/s13256-021-03064-1 10.1038/sj.ejhg.5201654 10.1212/01.WNL.0000132818.84827.4D 10.1038/ng1119 10.1016/S0896-6273(00)00007-6 10.1016/s0092-8674(03)00163-6 10.1016/S0896-6273(00)80651-0 10.1093/brain/awl125 10.1038/modpathol.3800179 10.1212/01.WNL.0000152874.57180.AF 10.1053/seiz.2001.0650 10.1093/brain/aws019 10.1176/appi.neuropsych.11110336 10.1159/000320184 10.1002/ajmg.a.33260 10.1136/jmedgenet-2014-102959 10.1111/bdi.12556 10.1016/j.nicl.2017.10.002 10.1136/JNNP.63.3.373 10.1016/S0895-6111(96)00068-7 10.1017/S1742646407000386 10.1093/cercor/bhn066 10.1016/0925-4927(95)02573-G 10.1002/acn3.641 10.1111/pcn.12309 10.4172/2168-975X.1000192 10.1016/j.braindev.2003.09.004 10.1046/j.1440-1819.1998.00385.x 10.1007/s00401-010-0655-4 10.1177/088307380001500208 10.1136/jnnp.2003.024315 10.1590/S0004-282X2009000200025 10.11477/mf.1416200093 10.1016/0010-440X(92)90063-V 10.1093/hmg/ddp442
Journal of Medical Case Reports; Riccio MP, D'Andrea G et. al.

Oct 12th, 2021 - Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick-Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A...

Impact of radiogenomics in esophageal cancer on clinical outcomes: A pilot study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476334
World Journal of Gastroenterology; Brancato V, Garbino N et. al.

Oct 12th, 2021 - Esophageal cancer (ESCA) is the sixth most common malignancy in the world, and its incidence is rapidly increasing. Recently, several microRNAs (miRNAs) and messenger RNA (mRNA) targets were evaluated as potential biomarkers and regulators of epigenetic mechanisms involved in early diagnosis. In addition, computed tomography (CT) radiomic studies on ESCA improved the early stage identification ...

Evaluation of biomarkers, genetic mutations, and epigenetic modifications in early diag...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476336
World Journal of Gastroenterology; Rah B, Banday MA et. al.

Oct 12th, 2021 - Pancreatic cancer (PC) is one of the deadliest malignancies with an alarming mortality rate. Despite significant advancement in diagnostics and therapeutics, early diagnosis remains elusive causing poor prognosis, marred by mutations and epigenetic modifications in key genes which contribute to disease progression. To evaluate the various biological tumor markers collectively for early diagnosi...

Identification and validation of key long non-coding RNAs using co-expression network a...
https://doi.org/10.21037/apm-21-1952
Annals of Palliative Medicine; Rui Q, Lu C et. al.

Oct 12th, 2021 - Crohn's disease (CD) is a chronic inflammatory disease of the digestive tract. The underlying molecular mechanism of CD remains unclear. The aim of this study was to investigate the differentially expressed long non-coding RNA (lncRNA) in CD and its possible mechanism, and to verify the expression of lncRNA. Microarray GSE67106 and GSE83448 were downloaded from the Gene Expression Omnibus (GEO)...

Combining clinical examination with exome sequencing for the diagnosis and treatment of...
https://doi.org/10.21037/apm-21-2305
Annals of Palliative Medicine; Duan Y, Li P et. al.

Oct 12th, 2021 - Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder. Diagnosing MFS can be challenging as the disease's severity and clinical manifestations differ between pathogenic variants, and because a lack of published information currently exists on phenotype-genotype correlations. This report aims to underline the clinical manifestations associated with fibrillin-1 (FBN1) gene...

ALK-positive histiocytosis with disseminated disease responded to alectinib: a case rep...
https://doi.org/10.21037/apm-21-2117
Annals of Palliative Medicine; Tian Y, Li J et. al.

Oct 12th, 2021 - ALK-positive histiocytosis is a rare malignancy which was first described in 2008 and recognized as a systemic histiocytic disorder that can affect multiple organs. Less than 20 cases were reported to date, and much fewer cases were presented as disseminated disease, especially with lung and central nervous system (CNS) involvement. The clinical presentation, cytologic and histologic features w...