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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/28749718/ectopic-intralaryngo-tracheal-thyroid-tissue-causing-neonatal-death
#1
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...
July 27, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28707991/a-case-study-of-intractable-diarrhea-due-to-neonatal-microvillous-inclusion-disease
#2
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...
July 14, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28644757/relationships-between-adipokine-profiles-physique-index-and-severity-of-bronchiolitis-in-infancy
#3
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...
June 23, 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
#4
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...
June 15, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28569558/persistent-left-superior-vena-cava-in-fetuses-an-autopsy-series
#5
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...
June 1, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28557647/epidermolysis-bullosa-with-pyloric-atresia-and-aplasia-cutis-in-a-newborn-due-to-homozygous-mutation-in-itgb4
#6
Gozdem Kayki, Davut Bozkaya, Fatih Ozaltin, Diclehan Orhan, Figen Kaymaz, Emine Korkmaz, Sule Yigit
BACKGROUND: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. CASE REPORT: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. CONCLUSION: The previously unreported homozygous c...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#7
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...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28541826/ini-expressing-epithelioid-sarcoma-with-osteoclastic-giant-cells-in-a-child-a-case-report-with-summary-of-prior-published-cases
#8
Riju Bhattacharyya, Ranajoy Ghosh, Koushik Saha, Uttara Chatterjee
BACKGROUND: Epithelioid sarcoma is a heterogeneous tumor with 2 subtypes, classic and proximal. The proximal variant is more aggressive and occurs in proximal location in young adults. CASE REPORT: We present a proximal epithelioid sarcoma in the leg of an 8 year old girl with rhabdoid morphology and scattered osteoclastic giant cells. Nuclear INI-1 was retained. Despite wide local excision, local recurrence occurred at 8 months. Following re-excision, she developed a chest wall metastasis after 9 months...
May 25, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28574806/free-fatty-acids-of-newborns-from-women-with-gestational-diabetes-mellitus
#9
Miljana Z Jovandaric, Petar I Ivanovski
INTRODUCTION: Fetal macrosomia in gestational diabetes mellitus is contributed to by compensatory fetal mechanisms responding to alterations in maternal metabolism. OBJECTIVES: To compare FFA and blood glucose concentrations of newborns derived from healthy and hyperglycemic mothers. METHODS: Prospective study included two equal groups of term newborns (50) from GDM and healthy mothers. Blood was derived from umbilical and cubital vein of mothers immediately after birth...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28574805/the-development-of-fviii-inhibitors-in-relation-to-il10-gene-polymorphism-in-hemophilia-a-egyptian-pediatric-patients
#10
Hoda Sadek, Ilham Youssry, Nihal Salah Eldeen Ibrahim, Amany Ahmed Abou-Elalla, Gehad Atef, Somaia Mohammed Mousa
BACKGROUND: Development of inhibitors against Factor VIII (FVIII) in hemophilia A patients is a serious complication of therapy. Many cytokines, including interleukin-10 (IL10), may affect inhibitor development; however, literature data are not sufficient to prove this association. The aim of this study was to investigate the relation between FVIII inhibitor formation and IL10-1082A/G polymorphism among Egyptian hemophiliacs. METHODS: Patients were screened for FVIII inhibitors using the Bethesda method...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28524764/lack-of-association-between-stat4-single-nucleotide-polymorphisms-and-iranian-juvenile-rheumatoid-arthritis-patients
#11
Saeed Aslani, Mahdi Mahmoudi, Arash Salmaninejad, Shiva Poursani, Vahid Ziaee, Nima Rezaei
Juvenile rheumatoid arthritis (JRA) is a common chronic systemic autoimmune disease in children. Single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT4) gene are suspected to have association with the risk of autoimmune diseases. Previous investigations have indicated that the STAT4 rs7574865 T allele was significantly associated with rheumatoid arthritis. In this study, we aimed to evaluate the association of STAT4 SNPs with JRA in Iranian population. T allele of STAT4 rs7574865 SNP was less frequent in patients than in controls, and the difference was not significant (p = 0...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28481156/association-of-ptpn22-single-nucleotide-polymorphisms-with-celiac-disease
#12
Majid Aflatounian, Arezou Rezaei, Maryam Sadr, Amene Saghazadeh, Nazanin Elhamian, Hengameh Sadeghi, Fatemeh Motevasselian, Fatemeh Farahmand, Gholamhossein Fallahi, Farzaneh Motamed, Mehri Najafi, Nima Rezaei
OBJECTIVES: Celiac disease is a chronic autoimmune disease in which gene-environment interactions cause the immune system to unfavorably react to naturally gluten-containing foods. PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases. The present genetic association study was conducted to investigate the possible associations between PTPNTT single nucleotide polymorphisms (SNPs) and celiac disease in an Iranian population...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28453372/renal-tubular-mitochondrial-abnormalities-in-complex-ii-iii-respiratory-chain-deficiency
#13
Joel France, Isa Ashoor, Randall Craver
Defects in the respiratory chain may present with a wide spectrum of clinical signs and symptoms. In this "Images in Pathology" discussion we correlate the clinical, histologic, and ultrastructural findings in a 12-year-old male with a complex II/III respiratory chain deficiency and kidney dysfunction.
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394716/lethal-congenital-malformations-in-fetuses-antenatal-ultrasound-or-perinatal-autopsy
#14
Sumit Grover, Bhavna Garg, Neena Sood, Kamaldeep Arora
BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394668/use-of-cortisol-and-adrenal-weight-at-pediatric-postmortem
#15
Rebecca Morrison, Jansher Khan, Peter Galloway, Jane McNeilly, Syed Faisal Ahmed, Dawn Penman
We studied the relationship between adrenal weight and postmortem cortisol level in cases of infant death, and examined use of these measurements in adrenal insufficiency. We analyzed procurator-fiscal postmortem reports in the West of Scotland over a three year period. Combined adrenal weight was expressed as percentage of total body weight (%TBW). Of 106 cases, median (5(th), 95(th)) %TBW was 0.056 (0.025, 0.23) and median plasma cortisol was 8.4 ug/dl (1.0, 47.1). There was no correlation between %TBW and plasma cortisol (r = 0...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394646/prenatal-diagnosis-of-a-case-of-norrie-disease-with-late-development-of-bilateral-ocular-malformation
#16
Li Hong Wu, Li-Hong Chen, Hongning Xie, Ying-Jun Xie
We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22(+1) and 31(+4) gestational weeks, but at 36(+5) gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28368774/pregnancy-outcomes-following-ulipristal-acetate-emergency-contraception-failure-a-report-of-five-cases
#17
Zeynep Ozturk, Emine Akgul
INTRODUCTION: The emergency contraceptive ulipristal acetate (UPA) 30 mg is increasingly used by women, but there is no published data on UPA exposure in pregnancy. CASE REPORT: Here we describe five cases of unintended pregnancies following the use of UPA for emergency contraception. Of five pregnant women exposed to UPA, one decided to terminate the pregnancy for personal reasons. Two of them experienced premature rupture of membranes and the babies were born large for gestational age (LGA)...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28368675/higher-level-of-oxidative-stress-markers-in-small-for-gestational-age-newborns-delivered-by-cesarean-section-at-term
#18
Hulya Dede, Ozguc Takmaz, Esra Ozbasli, Suat Dede, Mete Gungor
INTRODUCTION: The aim of our study was to determine lipid peroxidation products and antioxidant enzyme activity in umbilical cord blood of small for gestational age (SGA) neonates. MATERIALS AND METHODS: Umbilical cord arterial blood samples were collected from 21-term singleton SGA newborn infants and 21 age- and sex-matched appropriate for gestational age (AGA) term neonates prospectively born by elective cesarean section for determination of malondialdehyde (MDA) as a marker of lipid peroxidation and superoxide dismutase (SOD) for antioxidant activity...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28332892/outcomes-in-continuing-pregnancies-diagnosed-with-a-severe-fetal-abnormality-and-implication-of-antenatal-neonatology-consultation-a-10-year-retrospective-study
#19
Laura Hostalery, Barthélémy Tosello
PURPOSE: To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. METHODS: A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#20
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
June 2017: Fetal and Pediatric Pathology
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