Abstract：
:Mosaic variegated aneuploidy (MVA) is a recessive condition characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple chromosomes and tissues. The phenotype of MVA syndrome includes severe microcephaly and growth deficiency, central nervous system anomalies, mental retardation, mild physical anomalies, and predisposition to cancer. We report a case of true fetal mosaicism for variegated aneuploidies detected in amniotic fluid cells. A 33-year-old primigravida woman at 5 weeks 1 day of gestation was referred to our tertiary hospital because of a high-risk pregnancy associated with IgA nephropathy. In a quadruple screening test performed at the 15(th) week of gestation, alpha fetoprotein was 73.4 IU/mL (2.792 MoM), suggesting that she was at high risk of neural tube defect. Following amniocentesis performed at the 17 weeks' gestation, chromosome examination of amniocyte culture showed premature chromatic separation in 63% of the metaphases (58/92) and a high frequency of gain and loss of chromosomes. Repeat amniocentesis at 21 weeks' gestation consistently showed the presence of multiple mosaic autosomal variegated aneuploidies. Ultrasonography at 21 weeks' gestation revealed relatively small head circumference for gestational age (<3%) and vermis defect, suggesting that the fetus would have microcephaly and Dandy-Walker malformation. Cytogenetic analysis with peripheral blood of the parents showed normal karyotype. In summary, we hereby report the cytogenetic analysis and prenatal findings of MVA.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Cho CH,Oh MJ,Lim CS,Lee CK,Cho Y,Yoon SYsubject
Has Abstractpub_date
2015-01-01 00:00:00pages
106-9issue
1eissn
0091-7370issn
1550-8080pii
45/1/106journal_volume
45pub_type
杂志文章,评审abstract：:A case of multiple myeloma producing IgD-M component with light chains of lambda type is reported. It involved the skeleton and was complicated by compression of the spinal cord and massive extension to the pleura. The urine contained lambda Bence Jones protein. Under the electron microscope, the neoplastic plasma cel...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1978-05-01 00:00:00
abstract：:Prospective HLA-DR matching has been shown to enhance renal graft survival. It has also been demonstrated that the major stimuli in the one-way mixed lymphocyte culture reaction (MLR) are the DR rather than DQ class II histocompatibility antigens. A two antigen DR match between the potential recipient and donor is usu...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1987-09-01 00:00:00
abstract：:Patients with diabetes mellitus have an increased risk of thrombosis and accelerated atherogenesis. Increased platelet adhesion and aggregation are noted in vitro. This paper reviews known platelet abnormalities found in patients with diabetes mellitus (DM) and examines the pathophysiology associated with these abnorm...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1993-01-01 00:00:00
abstract：:We report 2 patients who presented with vasomotor symptoms and severe thrombocytopenia following rattlesnake bites. These symptoms persisted in spite of treatment with antivenin and transfusion of multiple doses of platelets. Thrombocytopenia is a common occurrence in moderate to severe crotaline envenomation. Algorit...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2004-10-01 00:00:00
abstract：OBJECTIVE:Herpes simplex viruses 1 and 2 (HSV-1 and HSV-2) are responsible for a variety of human diseases. Therefore, rapid detection of these viruses in clinical laboratory is important. Recently Aptima Herpes Simplex 1 and 2 assay has been approved by the FDA. We evaluated analytical performance of this assay by com...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2020-03-01 00:00:00
abstract：:Testicular changes preceding and accompanying the initiation of spermatogenesis are reviewed. The complex cellular changes occurring in the developing testis are found to be particularly well defined with the use of electron microscopy. The findings suggest that electron microscopic examination may be useful in the ev...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1975-01-01 00:00:00
abstract：BACKGROUND:Clostridium difficile is one of the most common causes of nosocomial diarrhea, and diagnostic methods for detecting C. difficile infection have shifted from conventional to more recent molecular techniques. This study aimed to compare the performance of two molecular assays (Meridian Illumigene™ and AdvanSur...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
abstract：:Renal arterioles from five patients with benign essential hypertension (BH) and four patients with malignant essential hypertension (MH) were studied using electron microscopy (EM). This study suggests a concept of different pathogenetic mechanism for renal vascular (arteriolar) lesions in BH and MH (i.e., benign and ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1977-03-01 00:00:00
abstract：:The purposes of this work are to: review the biological activities of Interleukin-2 (IL-2); evaluate the reported therapeutic benefits and toxicity of IL-2/lymphokine activated killer (LAK) cells; and project the role of IL-2/LAK cells in cancer therapy. Interleukin-2 is a glycoprotein lymphokine (mw 15,000) produced ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1989-01-01 00:00:00
abstract：:Hydroxyethyl starch (HES) has been shown to be beneficial in several inflammatory situations, but the mechanisms are unclear. The present study tested the hypothesis that HES has effects on nuclear factor kappa B (NF-kappaB) activation and the expression of inflammatory mediators induced by lipopolysaccharide. Sepsis ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2003-10-01 00:00:00
abstract：GOALS:This study aims to examine the effects of raising the reporting age for benign endometrial cells (BEC) on Papanicolaou (Pap) tests according to the 2014 3rd edition of the Bethesda System for Cervical Cytology, as well as the sequelae of the 2012 American Society of Colposcopy and Cervical Pathology (ASCCP) guide...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2017-05-01 00:00:00
abstract：:Spindle cell variant of cutaneous B-cell lymphoma is a rare entity which poses a diagnostic difficulty. The differential diagnosis of cutaneous spindle cell lesions is broad, and often includes sarcoma, carcinoma, and melanoma. Lymphoma with spindle cell morphology is frequently only considered after exclusion of more...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2016-04-01 00:00:00
abstract：:Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy commonly caused by deleterious changes in the mitochondrial DNA (mtDNA). We describe a 45-year-old man who was referred to us for investigation of progressive ptosis. We performed a multiplex ligation-dependent probe amplification (MLPA) a...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2011-10-01 00:00:00
abstract：:Acanthocytosis represents an unusually pathological variant of red cell morphology which is encountered in a diverse group of inherited and acquired disease states. While the morphological features are similar in all instances, the biochemical lesions frequently differ. Most demonstrable abnormalities involve lipids a...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1980-05-01 00:00:00
abstract：OBJECTIVE:The microscopic and chemical analysis of urine is essential for the diagnosis of patients with urinary tract infections (UTI). Quantitative urine culture is the 'gold standard' method for the diagnosis of UTI, but it is labour-intensive and time consuming. The DongJiu 8602 is a new automated urinalysis system...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-10-01 00:00:00
abstract：:The Department of Laboratory Medicine at Asan Medical Center provides a special one-stop service to allow both doctors and outpatients to receive routine outpatient test results in a timely manner within 1 hr. We developed a new Laboratory Information System (LIS)-based monitoring system that records the laboratory tu...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2009-04-01 00:00:00
abstract：:The purpose of this study was to assess whether the LG Anti-HIV 1/2 Plus ELISA (LG Life Sciences, Seoul, Korea), a new third-generation enzyme-linked immunosorbent assay for the detection of HIV infection, has improved sensitivity and specificity in comparison to the other licensed third-generation assays. The sensiti...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：:Hemoglobin H (Hb H) disease is usually characterized by the existence of Hb H, which influences the degree of functional anemia. We here report a patient with a rare Hb H disease genotype (-SEA/-α27.6), who was observed to paradoxically have no detectable Hb H fraction on electrophoresis. To date, the reason why the q...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2018-11-01 00:00:00
abstract：:The histopathologic findings in lung tissue are reported from five cases of Philadelphia Legionnaire's Disease and the results are compared to pneumonias caused by other microbial and chemical agents. Histopathology of lung tissue was similar in all cases, despite the fact that death occurred between the fourth and 14...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
abstract：CONTEXT:Myotonic dystrophies (DMs) are a group of autosomal dominant neuromuscular disorders which are caused by large CTG/CCTG-repeat expansions in untranslated regions of DMPK/ZNF9 gene. The "phenotypic overlap" in DMs creates complication in distinguishing patients with DM1 from patients with DM2 and underscores the...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-10-01 00:00:00
abstract：:Mucoepidermoid carcinoma of the lung is exceedingly rare. Our case involves a 58-year-old male who presented with shortness of breath, dysphagia, and weight loss. He denied ever smoking. Chest x-ray revealed trapped lung, and CT demonstrated a right bronchial mass. Diagnosis of lung carcinoma was made by bronchoscopic...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：2015-04-01 00:00:00
abstract：:The concentrations of progesterone, cortisol, estradiol, and transcortin binding capacity (TBC) were measured in plasma samples of women during normal pregnancy. Between 10 weeks and 20 weeks gestation, the mean of TBC increased linearly, and the mean increase in TBC for a given estradiol increment was constant until ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1987-03-01 00:00:00
abstract：:Until recently it has been generally accepted that the choroid plexuses are the major source of the cerebrospinal fluid (CSF). However, data now indicate that significant contributions to the CSF are made at extrachoroidal sites. CSF production studies and 24Na transport studies in normal and plexectomized rhesus monk...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
abstract：:The aim of this study was to assess the efficacy and pharmacokinetic profiles of gentamicin, vancomycin, and levofloxacin in a rat air pouch model, in which Staphylococcus aureus (ATCC 25293) was used as the test organism. Antibiotic treatments (i.p.) were started 1 hour after bacterial inoculation and continued for 5...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2012-01-01 00:00:00
abstract：:Plasma cell granuloma (PCG) is a relatively rare, mass-forming lesion comprised of polyclonal plasma cells set in a background of storiform fibrosis and spindle cell proliferation. While uncommon, this lesion may occur within any site and should be included in the list of differential diagnoses for plasma cell neoplas...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-04-01 00:00:00
abstract：:Histologic sections of thyroid glands resected from 12 patients with Hashimoto's thyroiditis have been studied in which areas were present showing clear nuclear changes such as those seen in papillary carcinoma. The patients' ages ranged from 28 to 78 years (mean = 57.3); 11 were women and one was a man. The lesions p...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1995-11-01 00:00:00
abstract：BACKGROUND:Mean platelet volume (MPV) is an inexpensive, routinely measured clinical parameter, and its elevation shows an increase in the size and activity of platelets. It has been shown that MPV can be used as a prognostic biomarker in certain chronic diseases. In the present study, MPV in patients with hepatitis B ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2018-09-01 00:00:00
abstract：:The purpose of this study was to determine whether or not a newer test of platelet function, Sonoclot coagulation analysis, can identify the patients who develop significant prolongation of bleeding time after aspirin ingestion. Template bleeding time, platelet aggregation in response to arachidonic acid, collagen, ep...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1991-09-01 00:00:00
abstract：:Spermatogenesis is severely altered in the nonobese diabetic (NOD) mouse in the presence of diabetes. When insulin is administered early in the development of diabetic changes, blunting of the testicular damage results, suggesting a direct causal effect of hyperglycemia on the testicular alterations. In view of the ke...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:Gain-of-function mutations of the CKIT gene have been reported to specifically occur in core-binding factor (CBF) acute myeloid leukemia (AML) with a poor prognostic implication. Here we report a case of therapy-related AML with t(9;11)(p22;q23) who had CKIT mutation. A 48-year-old woman with breast cancer received pa...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
