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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/29608113/3d-virtual-broncoscopy-before-feto-procedure-in-a-fetus-with-severe-isolated-left-congenital-diaphragmatic-hernia
#1
Gabriele Tonni, Rodrigo Ruano, Renato Sà, Fernando Maia Peixoto Filho, Jorge Lopes, Heron Werner
INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a life-threatening event in severe forms and fetuses affected may benefit from in utero treatment by fetoscopic endotracheal occlusion (FETO). MATERIALS AND METHODS: Application of 3D virtual bronchoscopy in a case of severe, isolated, left CDH before performing FETO procedure at 27 week's gestation is reported. RESULTS: The 3D virtual imaging of the fetal trachea was technically useful in planning the real FETO procedure...
April 2, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29608111/profile-of-non-hematological-pediatric-tumors-a-clinicopathological-study-at-a-tertiary-health-care-centre
#2
Kashmi Sharma, Mehar Aziz, Nishat Afroz, Aaliya Ehsan
BACKGROUND: Tumors in pediatric age group are biologically different from tumors in adults and emerging as a significant contributor to morbidity/mortality in children. OBJECTIVES: This study evaluated the epidemiological profile of pediatric solid tumors in 0-18 years of age over a period of 5 years in a general hospital in India. RESULTS: A total of 510 cases of tumors were included, which accounted for 5.1% of the total tumor burden of the hospital...
April 2, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29608093/megacystis-microcolon-intestinal-hypoperistalsis-syndrome-in-which-a-different-de-novo-actg2-gene-mutation-was-detected-a-case-report
#3
Elif Ünver Korğalı, Amine Yavuz, Cemile Ece Çağlar Şimşek, Cengiz Güney, Hande Küçük Kurtulgan, Burak Başer, Mehmet Haydar Atalar, Hatice Özer, Hatice Reyhan Eğilmez
INTRODUCTION: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. CASE REPORT: This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene...
April 2, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29509095/delayed-metastasis-of-clear-cell-sarcoma-of-kidney-to-bladder-after-7-disease-free-years
#4
Adam Lang, Louis P Dehner
INTRODUCTION: Clear cell sarcoma of the kidney (CCSK) is childhood neoplasm with its own distinctive pattern of metastasis and may appear after a disease free interval of 5 years or more. MATERIALS AND METHODS: Histopathology and immunohistochemistry were available from the radical nephrectomy and the later partial cystectomy, which was performed after a seven disease-free interval. RESULTS: The pathologic features of the primary tumor were those of a classic CCSK with a monotypic pattern of uniform rounded to ovoid tumor cells with a background network of delicate blood vessels...
March 6, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29509083/association-of-snp-rs1867277-in-foxe1-gene-and-cleft-lip-with-or-without-cleft-palate-in-a-han-chinese-population
#5
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
March 6, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29494779/gallbladder-polyps-in-metachromatic-leukodystrophy
#6
Saeeda Almarzooqi, Asif Quadri, Alia Albawardi
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease, caused by a deficiency of arylsulfatase A, and leads to demyelination of the nervous system. A putative association between MLD and gallbladder pathology including malignancy is documented in the medical literature. CASE REPORT: A 10-year-old boy with MLD was found to have a papillary growth within a cystically dilated gallbladder. The lesion was confirmed to be papillomatosis/polyp with focal intestinal metaplasia...
March 1, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336713/persistent-pulmonary-hypertension-without-underlying-cardiac-disease-as-a-presentation-of-pulmonary-interstitial-glycogenosis
#7
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...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336709/novel-mutation-of-the-dystrophin-gene-in-a-child-with-duchenne-muscular-dystrophy
#8
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...
February 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
#9
Nesrine Rahmoun, Kamel Eddine El Mecherfi, Assia Bouchetara, Sara Lardjem Hetraf, Chahinez Dahmani Amira, Leila Adda Neggaz, Abdallah Boudjema, Faouzia Zemani-Fodil, 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...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336649/severe-craniofacial-involvement-due-to-amniotic-band-sequence
#10
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...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336643/measurement-of-fetal-mesencephalon-and-pons-via-ultrasonographic-cross-sectional-imagining
#11
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...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#12
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...
February 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
#13
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...
February 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
#14
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...
February 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
#15
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...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336634/sicam-1-svcam-1-and-se-selectin-levels-in-type-1-diabetes
#16
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...
February 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
#17
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/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/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#19
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 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
#20
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 2017: Fetal and Pediatric Pathology
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