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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/29336713/persistent-pulmonary-hypertension-without-underlying-cardiac-disease-as-a-presentation-of-pulmonary-interstitial-glycogenosis
#1
Gordon Gray Still, Shuo Li, Mark Wilson, Paul Sammut
INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. CASE REPORT: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336709/novel-mutation-of-the-dystrophin-gene-in-a-child-with-duchenne-muscular-dystrophy
#2
Jingjing Jiang, Tiejia Jiang, Jialu Xu, Jue Shen, Feng Gao
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations. CASE REPORT: We present a 5-year-old boy with typical clinical features of DMD. A novel mutation was identified as a c.9358_9359insA of DMD gene by next-generation sequencing. This mutation which was origined from mother, generated a frameshift mutation and resulted in abnormal synthesis of protein polypeptide chains...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336650/association-of-rel-polymorphism-with-cow-s-milk-proteins-allergy-in-pediatric-algerian-population-association-rel-polymorphism-with-cow-s-milk-proteins-allergy
#3
Nesrine Rahmoun, Kamel Eddine El Mecherfi, Assia Bouchetara, Sara Lardjem Hetraf, Chahinez Dahmani Amira, Leila Adda Neggaz, Abdallah Boudjema, Faouzia Zemani-Fodil, Djamel Saidi, Omar Kheroua
INTRODUCTION: Cow's milk proteins allergy (CMPA) pathogenesis involves complex immunological mechanisms with the participation of several cells and molecules involved in food allergy. The association of polymorphisms in the interleukin 4, Forkhead box P3 and the avian reticuloendotheliosis genes was investigated in an infant population with CMPA of Western Algeria. MATERIALS AND METHODS: We obtained DNA and clinical data from milk allergic subjects during active phase and from a group of non-atopic control subjects...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336649/severe-craniofacial-involvement-due-to-amniotic-band-sequence
#4
Luis Eduardo Becerra-Solano, Gema Castañeda-Cisneros, Jorge Roman Corona-Rivera, Manuel Díaz-Rodríguez, Luis Eduardo Figuera, Eunice López-Muñoz, José Antonio Nastasi-Catanese, José Jesús Toscano-Flores, María de Lourdes Ramírez-Dueñas, José Elias García-Ortíz
BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336647/inflammatory-myofibroblastic-tumor-of-the-tongue-report-of-a-pediatric-case-and-review-of-the-literature
#5
Chiara Caporalini, Selene Moscardi, Angela Tamburini, Nicola Pierossi, Marco Di Maurizio, Anna Maria Buccoliero
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal lesion composed of myofibroblastic and fibroblastic spindle cells, accompanied by inflammatory infiltration. IMT may occur in the tongue. Five cases have been previously reported at this site. CASE REPORT: An inflammatory myofibroblastic tumor arose in the tongue of a 10 month old infant, confirmed by anaplastic lymphoma kinase (ALK) immunohistochemical staining and the clinical response to the tyrosine kinase inhibitor...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336643/measurement-of-fetal-mesencephalon-and-pons-via-ultrasonographic-cross-sectional-imagining
#6
Ruiqi Yang, Rui Li, Xuejuan Liu, Limei Fan, Jialing Zhang, Libo Wang, Hong Teng
OBJECTIVES: This study evaluated the feasibility of measuring the fetal mesencephalon and pons by ultrasonographic cross sectional imaging to detect fetal central nervous system developmental abnormalities. MATERIALS AND METHODS: Fetal ultrasonographic measurements included: Fetal mesencephalon anteroposterior diameters (MAD), mesencephalon transverse diameters (MTD), pons anteroposterior diameter (PAD) and proximal transverse diameters (PTD). RESULTS: Nine-hundred ninety fetuses were imaged...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#7
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336637/post-mortem-diagnosis-of-blake-s-pouch-cyst-a-presentation-of-distended-cyst-at-necropsy
#8
Srividya Sreenivasan, Vishnu Sawant, Joy Ghoshal
BACKGROUND: Blake's pouch cyst forms from non-permeabilization of Blake's pouch. It is difficult to visualize at necropsy as the cyst ruptures easily into the 4th ventricle during dissection. CASE REPORT: Based upon prenatal imaging, delicate dissection allowed post-mortem confirmation of the Blake's pouch cyst. CONCLUSIONS: This highlights the importance of utilizing premortem imaging to help guide the postmortem dissection and documentation of a posterior fossa cyst...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336636/a-dysmorphology-based-systematic-approach-toward-perinatal-genetic-diagnosis-in-a-fetal-autopsy-series
#9
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
BACKGROUND: This retrospective study assesses the contribution of genetic disorders in fetuses undergoing postmortem evaluation and the performance of a clinical dysmorphology based systematic approach toward genetic diagnosis. MATERIALS AND METHODS: Ninety fetuses, including spontaneous losses and terminated pregnancies, underwent a postmortem evaluation including dysmorphological examination, radiological studies, and histopathological examination. Genetic testing including karyotyping, biochemical testing, Sanger sequencing, and exome sequencing were performed selectively...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336635/lymphomatoid-granulomatosis-in-a-14-year-old-boy-with-trisomy-21-and-history-of-b-lymphoblastic-leukemia-lymphoma
#10
Anna Paulina Matynia, Sherrie L Perkins, David Li
BACKGROUND: Lymphomatoid granulomatosis is a EBV-driven lymphoproliferative disorder that has been reported in association with immunodeficiency, but only exceptionally in patients with hematopoietic malignancy. CASE REPORT: A 14-year-old boy with trisomy-21 and a history of B-lymphoblastic leukemia/lymphoma (B-ALL) diagnosed 1.5 years prior, on maintenance chemotherapy, presented with fever and respiratory symptoms. Chest X-ray revealed right-lower-lobe consolidation...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336634/sicam-1-svcam-1-and-se-selectin-levels-in-type-1-diabetes
#11
Anwar Fathollahi, Ahmad Massoud, Ali Akbar Amirzargar, Babak Aghili, Ensieh Nasli Esfahani, Nima Rezaei
BACKGROUND/OBJECTIVE: This study was performed to compare soluble levels of adhesion molecules between diabetic patients and controls and to assess their possible association with long-term complications of type 1 diabetes (T1D). METHODS: Forty-eight patients with T1D and 39 healthy controls were enrolled in this study. The plasma level of adhesion molecules was measured by sandwich enzyme-linked immunosorbent assay technique. RESULTS: Higher sVCAM 1 (soluble vascular cell adhesion molecule 1) levels correlated with older age of onset of T1D...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#12
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
#13
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
#14
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
#15
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/29206495/the-clinical-and-pathological-features-of-maternal-gastric-adenocarcinoma-metastatic-to-placenta
#16
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
#17
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/29265964/editorial-board-page-eov
#18
(no author information available yet)
No abstract text is available yet for this article.
December 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
#19
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 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
#20
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 2017: Fetal and Pediatric Pathology
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