Abstract:
:Caspases play a vital role during apoptosis. In addition to apoptosis, caspases play a role in cytokine gene induction and work to inhibit apoptosis. In order for individuals to thrive with useful tissue growth, the rate of cell growth and division must surpass the rate of cell division. It is well established that excessive cell death of embryonic cells is a vital process occurring before structural abnormalities, regardless of their nature. Here we describe a 13-month-old male patient with a 4.7Mb interstitial duplication of chromosome 2q33.1. This duplication was identified by chromosomal microarray (CMA) which is the first-tier clinical diagnostic test to identify copy number variants (CNVs) for patients with unexplained developmental delay or intellectual disability. This patient presents with global developmental delay, especially in speech, language, hypotonia, and bilateral simian creases. The duplicated region contains several disease-causing genes. We believe that the phenotype in this patient's case was likely related to the gain of caspase 8 and 10 genes.
journal_name
Lab Medjournal_title
Laboratory medicineauthors
Gupta A,Yo J,Huang G,Soong L,Dong Jdoi
10.1093/labmed/lmx086subject
Has Abstractpub_date
2018-03-21 00:00:00pages
160-164issue
2eissn
0007-5027issn
1943-7730pii
4781680journal_volume
49pub_type
杂志文章abstract:PATIENT:66-year-old ethnic Egyptian man. CHIEF COMPLAINT:Hematuria. HISTORY OF PRESENT ILLNESS:The patient had a history of multiple episodes of gross hematuria for the past 5 years. Because the hematuria usually resolved on its own, he did not seek medical attention during that time. Bladder cancer was suspected. P...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LM96EJPPBYADIOVC
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVES:To determine the effect of a modified request form on the total use of γ-glutamyl transferase (GGT) usage and the ratio of inappropriate testing. METHODS:We modified a test request form by moving GGT from the "Liver profile" to the "Other" section. The criteria for appropriate GGT ordering were developed ba...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LM7E5LG6PWJYEFUJ
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:Platelet counts generated by automated analyzers on blood specimens that contain platelet clumps are often inaccurate and require verification by blood-smear review. In this study, we assessed the reliability of the Sysmex XE-5000 instrument to detect platelet clumps. METHOD:We reviewed automated complete bl...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw016
更新日期:2016-08-01 00:00:00
abstract::We report a case of a false-positive HIV result in an apparently healthy pregnant woman. Since no prenatal HIV testing had been performed, we screened for HIV reactivity utilizing the Architect HIV-Ag/Ab Combo assay. Results obtained were inconsistent in that they were repeatedly HIV reactive on a single serum sample ...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LMAAGVXK05LUWOQN
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:The University of Maryland Medical System, like all other medical systems, is faced with providing the highest quality care in an environment of increased demands and competition for resources. Some responses to this pressure include improved integration, coordination, and efficiency. Laboratory integration ...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw051
更新日期:2017-02-01 00:00:00
abstract::The COVID-19 pandemic has led to a major setback in both the health and economic sectors across the globe. The scale of the problem is enormous because we still do not have any specific anti-SARS-CoV-2 antiviral agent or vaccine. The human immune system has never been exposed to this novel virus, so the viral interact...
journal_title:Laboratory medicine
pub_type: 杂志文章,评审
doi:10.1093/labmed/lmaa049
更新日期:2021-01-04 00:00:00
abstract:Background:Interest in vitamin D has increased during the past 2 decades, with a corresponding increase in laboratory testing of 25-hydroxyvitamin D [25(OH)D]. The vast majority of specimens tested display normal or deficient levels of 25(OH)D; concentrations rarely fall in the potentially toxic range. Methods:We perf...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmx077
更新日期:2018-03-21 00:00:00
abstract:BACKGROUND:Consanguineous marriage, a common practice in South India, increase the incidence of autosomal recessive diseases such as nonsyndromic hearing loss (NSHL) in offspring. This trend was noted in the children with hearing impairment (HI) who received cochlear implants (CI) at our University hospital in Porur, C...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz027
更新日期:2020-01-02 00:00:00
abstract:OBJECTIVE:Establish whether hemolysis in samples collected from intravenous lines is influenced by catheterization site. METHODS:Blood was collected from all patients (67 total) admitted to the emergency department the same morning, through a 20-gauge catheter placed in a vein of the upper limb directly into an evacua...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/lm2xcv5sqml1ontm
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the association of S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) in urine with chronic kidney disease (CKD). METHODS:Case-control study including 50 patients with CKD and 20 healthy volunteers. RESULTS:SAM level and SAM/SAH ratio in urine were significantly lower in patients than i...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz035
更新日期:2020-01-02 00:00:00
abstract:OBJECTIVE:To investigate the effect of temperature and protease inhibitor on adrenocorticotrophin (ACTH) stability. METHODS:We collected blood specimens from 10 donors into K3 EDTA (ethylenediaminetetraacetic acid) and K3 EDTA + aprotinin tubes. Plasma specimens were held at room temperature and at 2 °C to 8[Formula: ...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw027
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:To investigate the expression level and clinical significance of microRNA-155 (miR-155) in bladder cancer. METHODS:We collected 102 pairs of tissue specimens from patients with primary bladder cancer and adjacent normal bladder specimens between March 2008 and May 2013. Quantitative real-time polymerase chai...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LMWR9CEA2K2XVSOX
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVE:To explore novel biomarkers for patients with pancreatic ductal adenocarcinoma (PDAC), from the perspective of tumor hypoxia. METHODS:We screened 29 differentially expressed and hypoxia-upregulated genes from the Oncomine database. A total of 12 secretory proteins that interact with hypoxia-inducible factor ...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz063
更新日期:2020-07-08 00:00:00
abstract:BACKGROUND:The production of 2 monoclonal proteins characterizes biclonal gammopathic manifestations (BGMs). The available medical literature from India is chiefly restricted to case reports. OBJECTIVE:To study the incidence of BGMs in a tertiary care center in Chandigarh, India, during a 4-year period. We evaluated t...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz006
更新日期:2019-10-10 00:00:00
abstract:OBJECTIVE:Inflammation of the small intestine may occur in type 2 diabetes. This study aimed to investigate whether ATP-binding cassette transporter A1 (ABCA1) and G1 (ABCG1) were altered in chronic inflammation of the small intestine of type 2 diabetic rats. METHODS:Thirty-two male Sprague-Dawley rats were used. Eigh...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/lmo485spyxbqanxj
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To determine whether K2-ethylenediaminetetraacetic acid (EDTA) and K3-EDTA Greiner tubes could be used interchangeably for glycosylated hemoglobin, type A1C (HbA1c) measurement via the Abbott Laboratories ARCHITECT chemiluminescent microparticle HbA1c assay on the ARCHITECT i2000SR immunoanalyzer at our unive...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmv016
更新日期:2016-02-01 00:00:00
abstract::Non-specific antibodies or antibodies of undetermined significance (AUS) often pose problems for a blood bank technologist and physician. It is well known that antibodies can weaken and evanesce over time, thus eluding detection by routine blood bank techniques. Special enhancement techniques exist (eg, ficin treatmen...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw062
更新日期:2017-02-01 00:00:00
abstract::Primary amoebic meningoencephalitis (PAM) is a rare and almost always fatal disease that is caused by Naegleria fowleri, a freshwater thermophilic amoeba. Our case involves an adolescent female who presented with fever of unknown origin. A lumbar puncture was performed, and the Wright-Giemsa and Gram stained cerebrosp...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw008
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Multirules are often employed to monitor quality control (QC). The performance of multirules is usually determined by simulation and is difficult to predict. Previous studies have not provided computer code that would enable one to experiment with multirules. It would be helpful for analysts to have computer...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz038
更新日期:2020-01-02 00:00:00
abstract:BACKGROUND:Oxidative stress has been associated with the progression of atherosclerosis and activation of genes that lead to increased deposition of proteins in the extracellular matrix. Bone sialoprotein (BSP) and osteonectin are proteins involved in the initiation and progression of vascular calcification. OBJECTIVE...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LMUJWVQFW6CJMSOQ
更新日期:2014-10-01 00:00:00
abstract:Background:When unpredicted surgical blood loss occurs, it is essential that blood arrive from the blood bank in a timely manner. Objective:To evaluate the turnaround time (TAT) for red blood cells (RBCs) from the blood bank to the operating suite. Cases with delayed TATs were further analyzed to determine potential c...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmx016
更新日期:2017-08-01 00:00:00
abstract:Background:The misuse of statistical methods in diagnostic accuracy studies has been criticized in many publications. Objective:To assess the use and misuse of statistical methods in medical journal articles. Methods:We reviewed 141 original articles from 6 cytopathology journals published in 2014. Results:In total,...
journal_title:Laboratory medicine
pub_type: 杂志文章,评审
doi:10.1093/labmed/lmy036
更新日期:2019-01-01 00:00:00
abstract::Waldenström macroglobulinemia (WM) is a form of lymphoplasmacytic lymphoma that can cause hyperviscosity syndrome due to unchecked monoclonal antibody production. Some patients are also found to have associated cryoglobulinemia, which can cause systemic complications including vasculitis, renal disease, and pulmonary ...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmy073
更新日期:2019-07-16 00:00:00
abstract::Hormographiella is a rare fungal pathogen in humans; however, case reports have described disseminated infection in immunocompromised hosts. This pathogen has been described to yield poor prognosis in patients who harbor it. Herein, we present a case report of autopsy-proven disseminated Hormographiella aspergillata i...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmz018
更新日期:2019-10-10 00:00:00
abstract:BACKGROUND:Knowledge of transfusion medicine is the key element of better transfusion practices. This deficit observed at the blood bank end on daily basis exposing the patients for redundant risk. We assessed the knowledge of transfusion medicine among post intern doctors. OBJECTIVE:To assess the knowledge of transfu...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmw056
更新日期:2017-02-01 00:00:00
abstract::Herein, we present a case of extensive lymph node involvement by disseminated Cryptococcus infection developing in the immediate period after liver transplantation and initiation of immunosuppressive therapy. The patient, a 56 year old ethnicity unknown man, received a liver transplant for acute decompensated liver. B...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmy021
更新日期:2018-07-05 00:00:00
abstract:BACKGROUND:To compare the coagulation-factor profile of cryoprecipitate produced from fresh frozen plasma from whole blood (WB) stored for 24 hours at room temperature (24CP) with that of standard cryoprecipitate (CP). METHODS:We collected 80 units of WB from healthy volunteers, of which 20 units were of each blood gr...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/lmv1e84uctrqqzp
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND:Research in several professional fields has demonstrated that delays (time lapse) in taking certification examinations may result in poorer performance by examinees. Thirteen states and/or territories require licensure for laboratory personnel. A core component of licensure is passing a certification exam. A...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1309/LMNM534LIACPBZWH
更新日期:2015-07-01 00:00:00
abstract:Objective:To determine the effect of presence of high concentrations of nicotinamide adenine dinucleotide (NADH)- and nicotinamide adenine dinucleotide phosphate (NADPH)-consuming enzymes on the accuracy of glutamate dehydrogenase (GLDH) assay for ammonia. Methods:We measured ammonia concentrations using GLDH and NADH...
journal_title:Laboratory medicine
pub_type: 杂志文章
doi:10.1093/labmed/lmx053
更新日期:2017-11-08 00:00:00
abstract::Tacrolimus (Tac) is an immunosuppressive drug that is used in preventing organ and tissue rejection in patients after transplantation. Tac administration requires frequent and diligent monitoring by physicians to ensure proper dosage and to limit the potential for harmful adverse effects, which can include renal damag...
journal_title:Laboratory medicine
pub_type: 杂志文章,评审
doi:10.1093/labmed/lmx056
更新日期:2017-11-08 00:00:00