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1. Full Text Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
by Kang, Jia and Mao, Meng and Zhang, Ye and Ai, Fang-Fang and Zhu, Lan
Medicine, ISSN 0025-7974, 11/2018, Volume 97, Issue 45, pp. e12822 - e12822
Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association... 
rare diseases | MEDICINE, GENERAL & INTERNAL | mullerian duct abnormality | ANOMALIES | distal vaginal atresia | VACTERL association | Abnormalities, Multiple - etiology | Anus, Imperforate - etiology | Solitary Kidney - congenital | Heart Defects, Congenital - etiology | Humans | Vagina - abnormalities | Uterus - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - etiology | Rectal Fistula - congenital | Adolescent | Female | Heart Defects, Congenital - diagnosis | Fingers - abnormalities | Anus, Imperforate - diagnosis | Scoliosis - congenital | Trachea - abnormalities | Case studies | Care and treatment | Abnormalities | Diagnosis | Children | Genitourinary organs | Genital diseases, Female | Diseases | Index Medicus | Abridged Index Medicus
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2. Full Text VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement
by Carli, Diana, MD and Garagnani, Lorenzo, MD and Lando, Mario, MD and Fairplay, Tracy, PT and Bernasconi, Sergio, MD and Landi, Antonio, MD and Percesepe, Antonio, MD
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 458 - 462.e2
Objective To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with... 
Pediatrics | MALFORMATIONS | THUMB | DYSPLASIA | PEDIATRICS | TETHERED SPINAL-CORD | CONGENITAL-ANOMALIES | VATER ASSOCIATION | DEFICIENCY | Facial Bones - abnormalities | Urogenital Abnormalities - epidemiology | Umbilical Arteries - abnormalities | Humans | Limb Deformities, Congenital - therapy | Male | Odontoid Process - abnormalities | Spine - abnormalities | Orthopedic Procedures | Female | Trachea - abnormalities | Neural Tube Defects - epidemiology | Sacrococcygeal Region - abnormalities | Linear Models | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Coccyx - abnormalities | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy | Thumb - abnormalities | Fistula, Tracheoesophageal | Medical genetics | Index Medicus | Abridged Index Medicus
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3. Full Text Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
by Boissel, Sarah and Fallet-Bianco, Catherine and Chitayat, David and Kremer, Valérie and Nassif, Christina and Rypens, Françoise and Delrue, Marie-Ange and Dal Soglio, Dorothée and Oligny, Luc L and Patey, Natalie and Flori, Elisabeth and Cloutier, Mireille and Dyment, David and Campeau, Philippe and Karalis, Aspasia and Nizard, Sonia and Fraser, William D and Audibert, François and Lemyre, Emmanuelle and Rouleau, Guy A and Hamdan, Fadi F and Kibar, Zoha and Michaud, Jacques L
Genetics in Medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
Purpose: Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on... 
fetal anomalies | GREB1L | exome sequencing | birth defects | de novo mutations | ABNORMALITIES | HYDROCEPHALUS | MOUSE | NEURAL-TUBE | PRIMARY CILIARY DYSKINESIA | RUBINSTEIN-TAYBI SYNDROME | GENE | DISEASE | GENETICS & HEREDITY | SPECTRUM | PRENATAL-DIAGNOSIS | Abnormalities, Multiple - pathology | Fetus - abnormalities | Limb Deformities, Congenital - genetics | Genomics | Humans | Fetus - pathology | Male | Stillbirth - genetics | Whole Exome Sequencing - methods | Kidney Diseases - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Adult | Female | Hydrocephalus - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Trachea - abnormalities | Kidney Diseases - congenital | Genotype | Esophagus - abnormalities | Anal Canal - abnormalities | Pregnancy | Phenotype | Kidney - abnormalities | Tracheoesophageal Fistula - genetics | Family | Mutation | Prenatal Diagnosis - methods | Urogenital Abnormalities - genetics | Index Medicus
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4. Full Text Lymphocytic Esophagitis With CD4 T-cell–predominant Intraepithelial Lymphocytes and Primary Esophageal Motility Abnormalities: A Potential Novel Clinicopathologic Entity
by Xue, Yue and Suriawinata, Arief and Liu, Xiaoying and Li, Zhongze and Gabbard, Scott and Rothstein, Richard and Lacy, Brian and Lisovsky, Mikhail
The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2015, Volume 39, Issue 11, pp. 1558 - 1567
Lymphocytic esophagitis (LE) is an uncommon poorly defined histologic pattern. Its significance is largely unknown. The goal of our study was to characterize... 
Nutcracker esophagus | Diffuse esophageal spasm | Increased intraepithelial lymphocytes | Lymphocytic esophagitis | Spongiosis | CD4-predominant | SURGERY | diffuse esophageal spasm | increased intraepithelial lymphocytes | nutcracker esophagus | MUCOSAL BIOPSIES | PATHOLOGY | CHILDREN | spongiosis | IRREGULAR NUCLEAR CONTOURS | ACHALASIA | THERAPY | GASTROESOPHAGEAL-REFLUX DISEASE | lymphocytic esophagitis | EOSINOPHILIC ESOPHAGITIS | Predictive Value of Tests | CD8-Positive T-Lymphocytes - pathology | Humans | Middle Aged | Male | CD4-Positive T-Lymphocytes - pathology | Esophagitis - pathology | CD4-Positive T-Lymphocytes - immunology | Esophageal Motility Disorders - etiology | Deglutition | Esophagus - physiopathology | Esophagitis - diagnosis | Adult | Female | Retrospective Studies | Biomarkers - analysis | Immunophenotyping | Esophagitis - complications | Esophagitis - immunology | Esophagus - pathology | Mucous Membrane - pathology | Mucous Membrane - immunology | Biopsy | Esophageal Motility Disorders - physiopathology | Esophagitis - physiopathology | Aged | Esophagus - immunology | CD8-Positive T-Lymphocytes - immunology | Index Medicus
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5. Full Text Metaplastic Esophageal Columnar Epithelium Without Goblet Cells Shows DNA Content Abnormalities Similar to Goblet Cell-Containing Epithelium
by Liu, Weitian and Hahn, Hejin and Odze, Robert D and Goyal, Raj K
The American Journal of Gastroenterology, ISSN 0002-9270, 04/2009, Volume 104, Issue 4, pp. 816 - 824
OBJECTIVES: The mucosa of patients with columnar-lined esophagus recognized on endoscopy usually shows epithelium with and without goblet cells. Columnar... 
DIAGNOSIS | INTESTINAL METAPLASIA | DISTAL ESOPHAGUS | INSTABILITY | GASTROESOPHAGEAL JUNCTION | NEOPLASTIC PROGRESSION | ADENOCARCINOMA | DYSPLASIA | BARRETTS-ESOPHAGUS | GASTROENTEROLOGY & HEPATOLOGY | CANCER | Epithelium - pathology | Cell Count | Humans | Epithelium - chemistry | Aneuploidy | Intestinal Mucosa - chemistry | Esophagus - chemistry | Precancerous Conditions - genetics | Goblet Cells - chemistry | Metaplasia | Esophagus - pathology | Barrett Esophagus - pathology | Flow Cytometry | Precancerous Conditions - chemistry | Biopsy | Precancerous Conditions - pathology | DNA, Neoplasm - analysis | Retrospective Studies | Goblet Cells - pathology | Barrett Esophagus - genetics | Intestinal Mucosa - pathology | Index Medicus
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6. Full Text Associated anomalies in cases with esophageal atresia
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
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7. Full Text Studies of abnormalities of the lower esophageal sphincter during esophageal emptying based on a fully coupled bolus–esophageal–gastric model
by Kou, Wenjun and Pandolfino, John E and Kahrilas, Peter J and Patankar, Neelesh A
Biomechanics and Modeling in Mechanobiology, ISSN 1617-7959, 8/2018, Volume 17, Issue 4, pp. 1069 - 1082
The aim of this work was to develop a fully coupled bolus–esophageal–gastric model based on the immersed boundary–finite element method to study the process of... 
Biomedical Engineering | Engineering | Lower esophageal sphincter stiffness | Biological and Medical Physics, Biophysics | Immersed boundary method | Esophageal diverticulum | Theoretical and Applied Mechanics | Esophageal–gastric junction | Esophageal-gastric junction | BIOPHYSICS | ENGINEERING, BIOMEDICAL | MANOMETRY | GASTROESOPHAGEAL SEGMENT | MECHANICAL-PROPERTIES | Esophageal Sphincter, Lower - physiology | Numerical Analysis, Computer-Assisted | Anisotropy | Models, Biological | Humans | Muscle Contraction - physiology | Muscles - physiology | Stomach - anatomy & histology | Stress, Mechanical | Stomach - physiology | Esophageal Sphincter, Lower - anatomy & histology | Case studies | Hernia | Gastroesophageal reflux | Medical colleges | Analysis | Models | Stomach | Deformation | Computer simulation | Deformation mechanisms | Esophageal sphincter | Wall shear stresses | Abnormalities | Emptying | Sphincter | Esophagus | Finite element method | Hernias | Shear stress | Stiffness | Boundary element method | Index Medicus | Space life sciences
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8. Full Text Esophageal abnormalities in pediatric patients
by Hryhorczuk, Anastasia L and Lee, Edward Y and Eisenberg, Ronald L
American Journal of Roentgenology, ISSN 0361-803X, 10/2013, Volume 201, Issue 4, pp. W519 - W532
Esophageal abnormalities | Pediatrics | Esophagus | esophagus | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | esophageal abnormalities | pediatrics | Esophagus - injuries | Esophageal Diseases - congenital | Humans | Child, Preschool | Infant | Male | Esophagus - abnormalities | Diagnostic Imaging - methods | Esophagus - pathology | Female | Child | Infant, Newborn | Esophageal Diseases - diagnosis | Index Medicus | Abridged Index Medicus
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9. Full Text Esophageal abnormalities in gastroesophageal reflux disease
by Levine, Marc S and Carucci, Laura R
Abdominal Radiology, ISSN 2366-004X, 6/2018, Volume 43, Issue 6, pp. 1284 - 1293
Fluoroscopic esophagography is a widely available, safe, and inexpensive test for detecting gastroesophageal reflux disease. In this article, we review the... 
Barrett’s esophagus | Medicine & Public Health | Hepatology | Barium esophagography | Gastroesophageal reflux disease | Gastroenterology | Esophagram | Imaging / Radiology | Reflux esophagitis | Peptic stricture | DIAGNOSIS | RINGS | BARRETTS-ESOPHAGUS | DOUBLE-CONTRAST ESOPHAGOGRAPHY | ENDOSCOPIC CORRELATION | BARIUM | Barrett's esophagus | ESOPHAGOGASTRIC REGION | SIGN | ASSOCIATION | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | RADIOGRAPHIC FINDINGS | Gastroesophageal reflux | Medicine, Experimental | Medical research | Barium | Complications | Abnormalities | Hernias | Esophagitis | Stenosis | Differential diagnosis | Fluoroscopy | Esophagus
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10. Full Text Oesophageal motility and bolus transit abnormalities increase in parallel with the severity of gastro‐oesophageal reflux disease
by Savarino, E and Gemignani, L and Pohl, D and Zentilin, P and Dulbecco, P and Assandri, L and Marabotto, E and Bonfanti, D and Inferrera, S and Fazio, V and Malesci, A and Tutuian, R and Savarino, V
Alimentary Pharmacology & Therapeutics, ISSN 0269-2813, 08/2011, Volume 34, Issue 4, pp. 476 - 486
Background Limited data are available regarding the frequency of oesophageal motility and bolus transit abnormalities in subgroups of patients with... 
PATHOPHYSIOLOGICAL CHARACTERISTICS | INTRALUMINAL IMPEDANCE | EROSIVE ESOPHAGITIS | PERISTALTIC DYSFUNCTION | CLASSIFICATION | PHARMACOLOGY & PHARMACY | BARRETTS-ESOPHAGUS | GASTROENTEROLOGY & HEPATOLOGY | NERD | FUNCTIONAL HEARTBURN | Severity of Illness Index | Prospective Studies | Esophageal pH Monitoring | Gastroesophageal Reflux - physiopathology | Humans | Middle Aged | Gastrointestinal Motility - physiology | Male | Gastrointestinal Transit - physiology | Electric Impedance | Case-Control Studies | Young Adult | Regression Analysis | Gastroesophageal Reflux - complications | Peristalsis - physiology | Gastric Acidity Determination | Adult | Female | Italy | Aged | Retrospective Studies | Manometry - methods | Hernia | Gastroesophageal reflux | Endoscopic surgery | Endoscopy | Barrett's esophagus | Index Medicus
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11. Full Text NAD Deficiency, Congenital Malformations, and Niacin Supplementation
by Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M.M.A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W.K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L
The New England Journal of Medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Genetic variants causing loss of function in the synthesis of nicotinamide adenine dinucleotide were shown to cause congenital malformations that comprise the... 
CAUSES SPONDYLOCOSTAL DYSOSTOSIS | KYNURENINE | TRYPTOPHAN | MEDICINE, GENERAL & INTERNAL | DEFECTS | METABOLISM | VARIANTS | HUMANS | MUTATIONS | SIRTUINS | ASSOCIATION | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | NADPH | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
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12. Full Text Letter: oesophageal histological abnormalities and GERD ‐ an underestimated relationship requiring more attention
by Savarino, E and Lorenzon, G and Facchin, S and Savarino, V
Alimentary Pharmacology & Therapeutics, ISSN 0269-2813, 01/2018, Volume 47, Issue 1, pp. 152 - 153
Linked Content This article is linked to Vakil et al paper. To view this article visit https://doi.org/10.1111/apt.14028 . 
GASTROENTEROLOGY & HEPATOLOGY | REFLUX DISEASE | PHARMACOLOGY & PHARMACY | Gastroesophageal Reflux | Humans | Attention | Esophageal Diseases | Abnormalities | Esophagus | Index Medicus
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13. Full Text Long-term Outcomes of Patients With Normal or Minor Motor Function Abnormalities Detected by High-resolution Esophageal Manometry
by Ravi, Karthik and Friesen, Laurel and Issaka, Rachel and Kahrilas, Peter J and Pandolfino, John E
Clinical Gastroenterology and Hepatology, ISSN 1542-3565, 2015, Volume 13, Issue 8, pp. 1416 - 1423
Background & Aims High-resolution manometry (HRM) expands recognition of minor esophageal motor abnormalities, but the clinical significance of these is... 
Gastroenterology and Hepatology | Chicago Classification | Minor Manometric Abnormalities | Weak Peristalsis | Nutcracker Esophagus | Minor manometric abnormalities | Chicago classification | Nutcracker esophagus | Weak peristalsis | RELEVANCE | CLASSIFICATION | DISORDERS | SYMPTOMS | DYSFUNCTION | GASTROENTEROLOGY & HEPATOLOGY | PERISTALSIS | MOTILITY | Follow-Up Studies | Humans | Middle Aged | Deglutition Disorders - pathology | Male | Treatment Outcome | Esophageal Motility Disorders - diagnosis | Esophageal Motility Disorders - pathology | Young Adult | Deglutition Disorders - diagnosis | Adolescent | Aged, 80 and over | Adult | Female | Interviews as Topic | Aged | Retrospective Studies | Manometry - methods | Index Medicus | weak peristalsis | minor manometric abnormalities | nutcracker esophagus
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