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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#1
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29227711/diffuse-chorangiomatosis-as-a-cause-of-cardiomegaly-microangiopathic-hemolytic-anemia-and-thrombocytopenia-in-a-newborn
#2
Shreyas Arya, Vidit Bhargava, Joan Richardson, Hal K Hawkins
INTRODUCTION: The hallmark of diffuse chorangiomatosis is capillary dysvasculogenesis, diffusely involving the placenta. It can cause massive placental enlargement and may have adverse fetal effects. CASE REPORT: A 32 weeks gestation male infant was born via cesarean section and had a placenta weighing 900 g. There was diffuse vascular proliferation involving the stem villi and intermediate villi. Short Nucleotide Polymorphism (SNP) microarray analysis of the placenta showed no biparental mosaicism or loss of heterozygosity, ruling out placental mesenchymal dysplasia...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#3
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29220605/nut-midline-carcinoma-of-the-lung-in-a-six-year-old-child
#4
Esra Karakuş, Aylar Poyraz, Ayşe Selcen Oğuz Erdogan, Suna Emir, Derya Özyörük
BACKGROUND: Nuclear protein of the testis (NUT) midline carcinoma is genetically defined by rearrangement of NUT or by immunohistochemical expression of NUT. FINDINGS: A 6-year old child had a NUT midline carcinoma of the lung. Despite aggressive therapy, the child died. CONCLUSION: NUT carcinoma, which can be diagnosed immunohistochemically, remains an aggressive tumor.
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29206544/a-complication-of-percutaneous-sclerotherapy-for-congenital-pulmonary-airway-malformation-intravascular-injection-and-cardiac-necrosis
#5
Andrew H Chon, Moe R Takeda, Juan C Felix, Ramen H Chmait
INTRODUCTION: A congenital pulmonary airway malformation (CPAM) type III may become large enough to cause hydrops fetalis. In such circumstances, the fetus can be treated with open fetal resection, maternal betamethasone administration, or percutaneous sclerotherapy. CASE REPORT: A 24 week gestation fetus with a CPAM type III was treated by percutaneous sclerotherapy using ethanolamine oleate (EO). The EO inadvertently entered the left atrium and ventricle with subsequent fetal bradycardia and demise...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29206495/the-clinical-and-pathological-features-of-maternal-gastric-adenocarcinoma-metastatic-to-placenta
#6
Ping Wei, Mulan Jin, Lei Jiang, Yue Wang, Ying Wang, Xiumei Hu, Yungang Zhang
We describe two mothers with metastatic gastric carcinoma involving the placenta. The first was a 35-year-old woman, who presented with a progressive decline in serum fibrinogen level at 34 + 2gestation week and underwent an emergency cesarean section. The second case was a 30-year-old woman who developed intolerable lumbosacral pain and cesarean section was performed at her 37 + 3gestation week. Gross pathological examinations of both placentas were normal, but microscopy showed poorly differentiated adenocarcinoma infiltration in the intervillous space, later proved to be gastric in origin...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29206494/prenatal-diagnosis-of-twin-fetuses-with-a-novel-ar-gene-mutation-in-a-chinese-family-of-complete-androgen-insensitivity-syndrome
#7
Weiqing Wu, Qian Geng, Yang Liu, Zhiyong Xu, Peining Li, Jiansheng Xie
INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29199882/association-study-of-mecp2-gene-single-nucleotide-polymorphisms-in-juvenile-onset-systemic-lupus-erythematosus-patients-from-iran
#8
Mahdi Mahmoudi, Saeed Aslani, Elham Hamzeh, Vahid Ziaee, Shiva Poursani, Mohammad Hossein Nicknam, Nima Rezaei
INTRODUCTION: Juvenile-onset systemic lupus erythematosus is a multigenic autoimmune disorder. Polymorphisms of MECP2 gene have been reported to increase the risk of adult-onset SLE. In this study, we aimed to analyze if MECP2 gene polymorphisms could impress the proneness to JSLE in Iranian population. MATERIAL AND METHODS: Polymorphisms of MECP2 gene were genotyped in 50 Iranian JSLE patients and 426 matched healthy controls employing the real-time PCR allelic discrimination technique...
December 4, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29144870/brain-maturation-differences-in-biochemical-composition-of-fetal-and-child-s-brain
#9
Andrzej Urbanik, Monika Cichocka, Justyna Kozub, Paulina Karcz, Izabela Herman-Sucharska
INTRODUCTION: The aim of this study was to evaluate differences in 1H MRS spectra of the brain of fetuses and children from 6 to 11 years of age. MATERIAL AND METHODS: 21 healthy fetuses in the third trimester and 22 children were examined using the proton nuclear magnetic resonance. The relative metabolite concentrations to the sum of all metabolites were calculated. RESULTS: In the 1H MRS spectra of the brain from fetuses and children, there are the same characteristic peaks: N-acetylaspartate (NAA), creatine (Cr), choline (Cho), and myo-inositol (mI)...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28949811/characterization-of-maternal-and-fetal-cyp3a-mediated-progesterone-metabolism
#10
Sara K Quinney, Tara Benjamin, Xiaomei Zheng, Avinash S Patil
INTRODUCTION: Progesterone is critical for maintaining pregnancy and onset of labor. We evaluated CYP450-mediated progesterone meta-bolism, specifically the contribution of CYP3A isoforms. MATERIALS AND METHODS: In vitro progesterone metabolism was characterized in human liver microsomes (HLMs) with and without selective cytochrome P450 inhibitors and in recombinant CYP3A4, CYP3A5, and CYP3A7. 6β-hydroxyprogesterone (6β-OHP) and 16α-hydroxyprogesterone (16α-OHP) metabolites were quantified by HPLC/UV and fit to the Michaelis-Menten equation to determine Km and Vmax...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28949777/pendrin-expression-in-preeclampsia-a-prospective-immunohistochemical-staining-study-on-placental-bed-biopsies
#11
Ali T Anuk, Semir Kose, Canan Fırat, Erdener Ozer, Sabahattin Altunyurt
INTRODUCTION: To assess the pendrin expression density in placental bed biopsies from preeclampsia cases in comparison with healthy term controls. MATERIAL AND METHODS: A prospective case-control study with 106 placental bed biopsies obtained during cesarean deliveries. Pendrin expression was evaluated by immunohistochemical staining in different hypertensive disorders of pregnancy. RESULTS: Pendrin immunostaining frequency was higher in the hypertensive disorders group (p: 0...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28949770/adamts-1-4-5-8-and-9-in-early-pregnancies
#12
Müberra Namli Kalem, Ziya Kalem, Batuhan Bakirarar, Kadir Demircan
INTRODUCTION: The aim of this study was to immunohistochemically investigate the presence and localization of ADAMTS 1, 4, 5, 8 and 9 in decidual and chorionic tissues in first trimester pregnancy losses. MATERIALS AND METHODS: This study was conducted with early pregnancy failure decidual and chorionic tissue samples from 36 pregnant women in the first trimester of pregnancy (ongoing pregnancies, missed miscarriages, anembryonic pregnancies) Results: It was observed that the decidual and chorionic tissue levels of ADAMTS 1, 4, 5, and 8 in ongoing pregnancies were more intensely expressed when compared with miscarriages...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28929834/the-association-between-serological-markers-of-celiac-disease-and-idiopathic-recurrent-pregnancy-loss
#13
Esma Sarikaya, Aytekin Tokmak, Rifat Taner Aksoy, Meryem Kuru Pekcan, Murat Alisik, Afra Alkan
INTRODUCTION: Antiphospholipid syndrome, uterine anomalies, and chromosomal aberrations are identifiable causes of recurrent pregnancy loss (RPL). Herein, our aim is to investigate the relationship between celiac disease (CD) specific antitransglutaminase antibodies (ATA) and unexplained RPL. MATERIALS AND METHODS: This was a cross sectional case-control study conducted on 86 women (45 RPL and 41 controls) in a tertiary level maternity hospital. Elisa kit was used to determine ATA IgA and IgG levels...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28749718/ectopic-intralaryngo-tracheal-thyroid-tissue-causing-neonatal-death
#14
Lauren Furnas, Huda Safa, Fiona Hutchinson, Lindsay Joseph, Jane E Armes
INTRODUCTION: Ectopic thyroid tissue can be found anywhere along the embryologic path of thyroid descent. Intralaryngo-tracheal thyroid tissue is the least common site of ectopia and can present with upper airways obstruction. Its presentation in the neonate is exceptional. CASE REPORT: We describe a term female neonate with subglottic thyroid tissue causing near-total occlusion of the larynx, which led to upper airways obstruction and neonatal death. CONCLUSION: This emphasizes the importance of considering intralaryngo-tracheal tumors as a cause of acute and otherwise unexplainable respiratory distress immediately after birth...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28644757/relationships-between-adipokine-profiles-physique-index-and-severity-of-bronchiolitis-in-infancy
#15
Ryou Kawamata, Yuji Gunji, Ayafumi Ozaki, Kei Wakabayashi, Yuka Miyajimaa, Yukifumi Monden, Kei Numazaki, Kazuo Takahashi
INTRODUCTION: Relationships between adipokines, adiposity and severity of acute viral bronchiolitis in infancy have not been elucidated. MATERIALS AND METHODS: We investigated the relationships between three serum adipokines (leptin, adiponectin and TNF-α), physique index (Kaup index) and clinical severity in 13 bronchiolitis infants. Seven healthy infants were enrolled as the control group. We used Modified Pulmonary Index Score (MPIS) to evaluate bronchiolitis severity...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#16
Nique Kunapinun, Jitsupa Treetipsatit
INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#17
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28409691/to-the-editor-concerning-kaya-et-al
#18
Gabriela Guzmán-Navarro, Fabiola Castorena-Torres, Víctor Javier Lara-Díaz
No abstract text is available yet for this article.
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28707991/a-case-study-of-intractable-diarrhea-due-to-neonatal-microvillous-inclusion-disease
#19
Ozgul Bulut, Bulent Ahishali, Mine Gulluoglu, Sertac Arslanoglu
BACKGROUND: Microvillous inclusion disease (MVID) is one of the most severe congenital diarrhea disorders, caused by a genetic defect in enterocyte differentiation and polarization. CASE REPORT: We describe a neonate who presented with severe weight loss, hypernatremic dehydration and metabolic acidosis due to intractable diarrhea due to MVID, confirmed by electron microscopy. CONCLUSION: MVID can present with severe weight loss, hypernatremic dehydration and metabolic acidosis that is life threatening...
August 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28569558/persistent-left-superior-vena-cava-in-fetuses-an-autopsy-series
#20
Deepa Ramakrishnan, Shanthi Chidambarathanu, Lata Murli, John Micheal, Sujatha Jagadeesh, Indrani Suresh, Suresh Seshadri
OBJECTIVE: To review fetal autopsy reports with persistent left superior vena cava (PLSVC) and identify its associations. MATERIALS AND METHODS: Autopsy reports of all fetuses diagnosed with PLSVC in our center from January 2011 to December 2015 were reviewed. Fetuses less than 15 weeks gestational age along with autolyzed and damaged hearts were excluded from the study. The study group was compared with controls during this period. RESULTS: Prenatal ultrasound detection rate of PLSVC was 13...
August 2017: Fetal and Pediatric Pathology
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