scholarly journals Androgenetic Complete Hydatidiform Moles With p57KIP2-Positive Immunostaining

2020 ◽  
Vol 154 (6) ◽  
pp. 776-783 ◽  
Author(s):  
Hirokazu Usui ◽  
Asuka Sato ◽  
Masayuki Ota ◽  
Jun-ichiro Ikeda ◽  
Makio Shozu
Keyword(s):  
High Rate ◽  
Molecular Karyotyping ◽  
Polymorphism Analysis ◽  
Chromosome 11 ◽  
First Case ◽  
Hydropic Abortion ◽  
Additional Chromosome ◽  
Positive Immunostaining ◽  
Chromosome 11P15.5 ◽  
Hydatidiform Moles

Abstract Objectives Complete hydatidiform moles (CHMs) are androgenetic and have a high rate of progression to gestational trophoblastic neoplasia (GTN). CHMs are negative when immunostained for p57KIP2 protein, the product of the maternally expressed gene on chromosome 11p15.5, whereas biparental partial hydatidiform moles and hydropic abortion are positive for p57KIP2. This study presents two cases of p57KIP2-positive androgenetic CHMs and explores the cause of this inconsistency. Methods Androgenetic CHMs were diagnosed using multiplex short tandem repeat polymorphism analysis. Single-nucleotide polymorphism arrays were performed for molecular karyotyping. Results Among the consecutive 188 androgenetic CHMs, two cases were positive for p57KIP2. The first case remitted spontaneously, whereas the second case developed into low-risk GTN. The first case was positive for p57KIP2 in all villi. The karyotype was 48,XX,+7,+11, with the additional chromosome 11 confirmed to be of maternal origin. The second case presented a mosaic of both positively and negatively stained villi. The karyotype was 46,XX. Conclusions The cause of one of the CHMs was trisomy with an additional maternal chromosome 11. Although rare, the confirmation of p57KIP2-positive androgenetic CHM status is necessary to manage GTN risk.

scholarly journals Parental contribution to trisomy in heterozygous androgenetic complete moles

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hirokazu Usui ◽  
Asuka Sato ◽  
Makio Shozu
Keyword(s):  
Allele Frequency ◽  
High Frequency ◽  
Molecular Karyotyping ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
New Approach ◽  
Maternal Contribution ◽  
Parental Contribution ◽  
Additional Chromosome ◽  
Hydatidiform Moles

Abstract Complete hydatidiform moles (CHMs) comprise a proliferative trophoblastic disorder and are known to be androgenetic and diploid. Androgenetic CHMs are classified as having monospermic and dispermic origins. Rarely, some CHMs have other genetic constitutions, such as biparental diploid or tetraploid. Previous studies have shown the possibility that androgenetic heterozygous CHMs have an additional chromosome with high frequency. This study aimed to comprehensively analyse the molecular karyotyping of androgenetic dispermic CHMs and the parental contribution of their additional chromosomes. Single-nucleotide polymorphism arrays were performed with the genomic DNA of CHMs and patients. The B allele frequency and selected B allele frequency plotting of CHM were visualised. Among the 31 dispermic CHMs, eight showed trisomy and one showed double trisomy; of the 10 additional chromosomes, seven were of maternal original and three were of paternal origin. In addition, three disomic chromosomes comprised one maternal and one paternal chromosome, although these should theoretically have had two paternal chromosomes in the case of androgenetic CHMs. The subclassification of heterozygous CHMs, with or without maternal contribution, is a new approach and could be a candidate indicator of gestational trophoblastic neoplasia risk.

Gestational Trophoblastic Neoplasia From Genetically Confirmed Hydatidiform Moles: Prospective Observational Cohort Study

2018 ◽  
Vol 28 (9) ◽  
pp. 1772-1780 ◽  
Author(s):  
Hirokazu Usui ◽  
Jia Qu ◽  
Asuka Sato ◽  
Zijun Pan ◽  
Akira Mitsuhashi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cohort Study ◽  
Laboratory Data ◽  
Spontaneous Remission ◽  
Observational Cohort Study ◽  
Polymorphism Analysis ◽  
Prospective Observational Cohort Study ◽  
Gestational Trophoblastic Neoplasia ◽  
Observational Cohort ◽  
Hydatidiform Moles

ObjectiveThe aim of this study was to evaluate the incidence and risk factors of gestational trophoblastic neoplasia (GTN) from hydatidiform moles (HMs) cytogenetically diagnosed in a prospective cohort setting.MethodsThe prospective observational cohort study included cases of cytogenetically defined molar pregnancies, which were diagnosed by a multiplex short tandem repeat polymorphism analysis. Cases were classified as androgenetic complete HMs (CHMs), diandric monogynic triploid partial HMs (PHMs), or biparental abortion. Gestational trophoblastic neoplasia was diagnosed according to the International Federation of Gynecology and Obstetrics 2000 criteria. Incidences for each category, that is, CHM, PHMs, and biparental abortion, were calculated. Clinical variables (age, partner age, gravidity, parity, height, weight, BMI, and gestational age) and laboratory data (serum human chorionic gonadotropin [hCG], white blood cell count, hemoglobin, and platelet count) were compared between spontaneous remission cases and GTN cases in androgenetic CHMs.ResultsAmong 401 cases, 380 were classified as follows: 232 androgenetic CHMs, 60 diandric monogynic PHMs, and 88 biparental abortions. A total of 35 cases (15.1%) of CHMs, but only 1 case of PHM (1.7%) and no biparental abortions, exhibited progression to GTN. The hCG value before evacuation was significantly higher in GTN cases than in spontaneous remission cases (P = 0.001, Kruskal-Wallis test). Patient age was also significantly higher in GTN cases than in spontaneous remission cases (P = 0.002, Student t test).ConclusionsUnder the cohort cytogenetic diagnosis setting, the traditional risk factors for GTN after molar pregnancy, hCG value before evacuation and age, were confirmed in androgenetic CHMs. The risk of GTN was lower for PHMs than for CHMs. However, 1 patient with cytogenetic PHMs developed into GTN.

scholarly journals Diagnosis of Neonatal Herpes Simplex Infection from the Placenta

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Amanda E. Smith ◽  
Amy McKenney ◽  
Laura Rabinowitz ◽  
Anirudha Das
Keyword(s):  
Herpes Simplex ◽  
Intrauterine Infection ◽  
High Rate ◽  
Pathological Examination ◽  
Neonatal Herpes ◽  
Fetal Demise ◽  
First Case ◽  
Simplex Infection ◽  
Neonatal Herpes Simplex ◽  
Simplex Virus

Due to a high rate of fetal demise and premature birth in intrauterine HSV infection, the outcome in neonates is usually adverse. A female preterm infant with a gestational age of 25 1/7 weeks with expected early clinical course tested positive for neonatal herpes simplex virus (HSV) 2 after the neonatologist was informed of positive immunohistochemistry for the virus on the fifth day of life by the pathologist. Pathological examination of the placenta had revealed subacute necrotizing inflammation with stromal cell necrosis suggestive of intrauterine infection, possibly ascending due to prolonged rupture of membranes. To the best of our knowledge, this is the first case wherein placental pathology indicated exposure to HSV in utero before the infant presented with signs or symptoms of neonatal HSV resulting in a favorable outcome for the infant. Due to the variability of presentation of intrauterine HSV infection, pathological examination of the placenta in the first 2–5 days of life in premature infants can provide clues to the diagnosis of neonatal HSV which may significantly impact the outcome.

scholarly journals Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Elenice Ferreira Bastos ◽  
Lidiane Alice Silva ◽  
Marcelo Coelho Ramos ◽  
Glicínia Pimenta ◽  
Paulo Ivo Cortez ◽  
...  
Keyword(s):  
Prognostic Significance ◽  
Good Prognosis ◽  
Promyelocytic Leukemia ◽  
Response To Treatment ◽  
Chromosome 11 ◽  
Molecular Cytogenetic ◽  
Factors Associated ◽  
The Poor ◽  
Additional Chromosome ◽  
Chromosome Alteration

The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a ten-year-old boy. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample obtained at diagnosis revealed the presence of trisomy of chromosome 11 as an additional chromosomal abnormality to the t(15; 17). The presence of the translocation t(15; 17), the cytogenetic marker of APL, is usually associated with good response to treatment with ATRA. In this case, although the patient had risk factors associated with good prognosis, he evolved and died quickly. So it seems that the presence of the trisomy 11 may be associated with disease progression and the poor outcome. To our knowledge, this is the first reported case of t(15; 17) associated with trisomy of chromosome 11 in a child with APL.

scholarly journals Isolation and Characterization of Proteolytic Ruminal Bacteria from Sheep and Goats Fed the Tannin-Containing Shrub Legume Calliandra calothyrsus

1999 ◽  
Vol 65 (7) ◽  
pp. 3075-3083 ◽  
Author(s):  
Christopher S. McSweeney ◽  
Brian Palmer ◽  
Rowan Bunch ◽  
Denis O. Krause
Keyword(s):  
Ribosomal Dna ◽  
Condensed Tannin ◽  
High Rate ◽  
Calliandra Calothyrsus ◽  
Polymorphism Analysis ◽  
Ruminal Bacteria ◽  
Sheep And Goats ◽  
16S Ribosomal Dna ◽  
Isolation And Characterization ◽  
High Specific Growth Rate

ABSTRACT Tannins in forages complex with protein and reduce the availability of nitrogen to ruminants. Ruminal bacteria that ferment protein or peptides in the presence of tannins may benefit digestion of these diets. Bacteria from the rumina of sheep and goats fed Calliandra calothyrsus (3.6% N and 6% condensed tannin) were isolated on proteinaceous agar medium overlaid with either condensed (calliandra tannin) or hydrolyzable (tannic acid) tannin. Fifteen genotypes were identified, based on 16S ribosomal DNA-restriction fragment length polymorphism analysis, and all were proteolytic and fermented peptides to ammonia. Ten of the isolates grew to high optical density (OD) on carbohydrates (glucose, cellobiose, xylose, xylan, starch, and maltose), while the other isolates did not utilize or had low growth on these substrates. In pure culture, representative isolates were unable to ferment protein that was present in calliandra or had been complexed with tannin. One isolate, Lp1284, had high protease activity (80 U), a high specific growth rate (0.28), and a high rate of ammonia production (734 nmol/min/ml/OD unit) on Casamino Acids and Trypticase Peptone. Phylogenetic analysis of the 16S ribosomal DNA sequence showed that Lp1284 was related (97.6%) to Clostridium botulinum NCTC 7273. Purified plant protein and casein also supported growth of Lp1284 and were fermented to ammonia. This is the first report of a proteolytic, ammonia-hyperproducing bacterium from the rumen. In conclusion, a diverse group of proteolytic and peptidolytic bacteria were present in the rumen, but the isolates could not digest protein that was complexed with condensed tannin.

HLA class II genotyping: two assay systems compared

1995 ◽  
Vol 41 (4) ◽  
pp. 553-556 ◽  
Author(s):  
J Thonnard ◽  
F Deldime ◽  
M Heusterspreute ◽  
B Delepaut ◽  
F Hanon ◽  
...  
Keyword(s):  
Large Scale ◽  
Clinical Laboratory ◽  
Blot Hybridization ◽  
Human Leukocyte ◽  
Hla Typing ◽  
High Rate ◽  
Polymorphism Analysis ◽  
Dot Blot ◽  
Pcr Products ◽  
Typing Methods

Abstract In the last few years, a variety of DNA-based human leukocyte antigen (HLA) typing methods have emerged, revealing the extreme polymorphism of HLA genes. This polymorphism makes it difficult for a clinical laboratory to establish the best HLA typing strategy. In this study we have compared two techniques for performing HLA-DRB typing: a commercial rapid assay based on the polymerase chain reaction (PCR) followed by reverse dot-blot hybridization of the PCR products (the Inno-LiPA assay), and a method based on PCR followed by restriction fragment length polymorphism analysis. We found that both methods provide reliable results with a high rate of concordance (97%) and that Inno-LiPA is convenient for large-scale routine typing. However, if a high-resolution allelic typing is required, each method lacks accuracy but using them in association improves the accuracy of the results.

scholarly journals Impacted canine and ossifying fibroma: case report and literature review

2019 ◽  
Vol 25 (4) ◽  
pp. 37
Author(s):  
Mélanie Le Donne ◽  
Océane Abattu ◽  
Claire Pernier ◽  
Emeline Durieux ◽  
Anne-Gaëlle Bodard
Keyword(s):  
Literature Review ◽  
Benign Lesion ◽  
Ground Glass Opacity ◽  
Permanent Tooth ◽  
High Rate ◽  
Ossifying Fibroma ◽  
Impacted Tooth ◽  
First Case ◽  
Tooth Impaction ◽  
Impacted Canine

Introduction: An impacted tooth is a permanent tooth that has a completely developed root but which has failed to erupt. Many etiologies can lead to impaction, including a mechanical obstacle, such as benign tumor. Observation: An 11-year-old girl was referred for the avulsion of the left mandibular permanent canine, which was impacted. A radiolucent lesion with ground glass opacity was found on the eruption pathway of the tooth. Anterior radiographs showed the lesion that seemed to be the cause of the impacted canine. Anatomopathological examination revealed the lesion to be a juvenile trabecular ossifying fibroma. Comments: Ossifying fibromas are rare jaw tumors. They can be of various types: ossifying fibroma, psammomatoid, or trabecular juvenile ossifying fibroma. This is the first case that clearly shows the association between ossifying fibroma and tooth impaction. A literature review of ossifying fibromas and the management of fibro-osseous benign lesions of the jaws was performed. Conclusion: Although benign, juvenile trabecular ossifying fibroma can be locally aggressive and has a high rate of recurrence. It is very important to establish a precise diagnosis of a fibro-osseous benign lesion of the jaws to plan optimal management.

scholarly journals Community-level SARS-CoV-2 Seroprevalence Survey in urban slum dwellers of Buenos Aires City, Argentina: a participatory research.

2020 ◽  
Author(s):  
Silvana Figar ◽  
Vanina Pagotto ◽  
Lorena Luna ◽  
Julieta Salto ◽  
Magdalena Wagner Manslau ◽  
...  
Keyword(s):  
Buenos Aires ◽  
Urban Slum ◽  
High Rate ◽  
Risk Of Infection ◽  
High Seroprevalence ◽  
Cross Sectional ◽  
Viral Spread ◽  
Population Immunity ◽  
First Case ◽  
Buenos Aires City

Background By July 1st, the incidence rate of RT-qPCR SARS-CoV-2 infection was 5.9% in Barrio Padre Mugica, one of the largest slums in Buenos Aires City. This study aimed to establish the seroprevalence of SARS-CoV-2 three months after the first case was reported. Methods Between June 10th and July 1st, a cross-sectional design was carried out on people over 14 years old, selected from a probabilistic sample of households. A finger prick sample was tested by ELISA to detect IgG-class antibodies against SARS-CoV-2. Multilevel model was applied to understand sector, household and individual conditions associated with seroconvert. Results Prevalence based on IgG was 53.4% (95%IC 52.8% to 54.1%). Among the IgG positive cases, 15% reported having compatible symptoms at some point in the past two months. There is evidence of within-household clustering effect (rho=0.52; 95% IC 0.36-0.67); living with a PCR-confirmed case doubled the chance of being SARS-CoV2 IgG positive (OR 2.13; 95% IC 1.17-3.85). The highest risk of infection was found in one of the most deprived areas of the slum, the Bajo autopista sector. Discussion High seroprevalence is shown, for each symptomatic RT-qPCR-confirmed diagnosis, 9 people were IgG positive, indicating a high rate of undetected (probable asymptomatic) infections. Given that transmission among family members is a leading driver of the disease`s spread, it is unsurprising that crowded housing situations in slums are directly associated with higher risk of infection and consequently high seroprevalence levels. This study contributes to the understanding of population immunity against SARS-CoV2, its relation to living conditions and viral spread, for future decision making.

scholarly journals How Kerala and Rajasthan Mitigated COVID-19: A Comparative Study

2020 ◽  
Vol 4 (2) ◽  
pp. 1-6
Author(s):  
Yash Jain ◽  
Keyword(s):  
Comparative Study ◽  
Case Fatality ◽  
High Rate ◽  
State Governments ◽  
First Case ◽  
The World ◽  
Rate Of Recovery ◽  
Precautionary Measures ◽  
The Comparative Study ◽  
Low Rate

All the countries of the world have been taking all the possible precautionary measures to combat COVID-19. In India, although there are many states which were affected by this flareup, the authors had taken only two states, i.e., Kerala and Rajasthan. Both the states did their best to combat this pandemic. Kerala was the first state to witness the first case in India on 30th January 2020 whereas in Rajasthan, the first case was tested on 2nd March 2020. After announcing this flareup as a pandemic by WHO, all the states did their best to break the chain of transmission, till date the recovery rate of India is 63.30%, Kerala is 47%, and Rajasthan is 73%. The high rate of recovery and low rate of case fatality show the benefits of early lockdown and the precautionary measures taken by Government of India and State governments (Kerala and Rajasthan). This paper implies the comparative study of all the precautionary measures and situation of COVID-19 in the two states.

Rare case of primary leiomyosarcoma of the breast treated with wide local excision and planned cosmetic breast reduction surgery

2020 ◽  
Vol 13 (11) ◽  
pp. e236013
Author(s):  
Luke Horton ◽  
Madeline Wohlfeil ◽  
Nabil Al-Kourainy ◽  
Lydia Choi
Keyword(s):  
Breast Reduction ◽  
Risk Mitigation ◽  
Cancer Recurrence ◽  
Disease Free Survival ◽  
Recurrence Risk ◽  
High Rate ◽  
Breast Reduction Surgery ◽  
First Case ◽  
Traditional Risk Factors ◽  
Primary Leiomyosarcoma

Primary leiomyosarcoma of the breast is an extremely rare neoplasm accounting for less than 0.0006% of all breast malignancies, with fewer than 80 cases reported in the literature to date. Here, we present a case of leiomyosarcoma of the breast in a 61-year-old woman without traditional risk factors. This case was treated with lumpectomy requiring wide margins due to the high rate of local recurrence. A planned breast reduction surgery was deemed adequate postlumpectomy therapy to prevent cancer recurrence, negating the need for chemotherapy or radiation therapy. To our knowledge, this is the first case in which cosmetic breast reduction surgery will be used as postlumpectomy cancer recurrence risk mitigation for primary leiomyosarcoma of the breast. Patients with this malignancy have a relatively poor prognosis compared with other breast cancer types, with a 5-year disease-free survival of 33%–52%. As such, frequent follow-up and monitoring for postresection recurrence is essential.

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