Search results for "Pulmonary hypoplasia"

showing 7 items of 7 documents

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

1976

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

Heart Defects CongenitalLiver CirrhosisMalePathologymedicine.medical_specialtySiderosisCirrhosisRenal cortical cystsPancreatic islet hyperplasiaIronKidneyNeurologic ManifestationsPulmonary hypoplasiaMaldevelopmentFibrosisHumansMedicineAbnormalities MultipleRadiology Nuclear Medicine and imagingbusiness.industryInfant NewbornBrainInfantGeneral MedicineKidney Diseases Cysticmedicine.diseaseBile Ducts IntrahepaticNeonatal hypotoniaLiverConnective TissuePediatrics Perinatology and Child HealthFemaleHepatic fibrosisbusinessHepatomegalyEuropean Journal of Pediatrics
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Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence

2000

Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. The pathogenesis of this condition includes a congenital familial condition, a twin-twin transfusion syndrome, and an angiotensin-converting enzyme inhibitor intake by the mother. The clinical picture shows an association with oligohydramnia, pulmonary hypoplasia, and skull ossification defects. In the present paper, we report the occurrence of RTD in three infants of a consanguinous couple and compared our data with those of the literature. Our data confirm that late s…

KidneyPregnancyPathologymedicine.medical_specialtybusiness.industryCell BiologyConsanguinitymedicine.diseasePathology and Forensic MedicinePathogenesisPulmonary hypoplasiaSkullmedicine.anatomical_structuremedicineImmunohistochemistrybusinessSequence (medicine)Pathology - Research and Practice
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Congenital Hepatic Fibrosis

2005

The disease presentation of autosomal recessive polycystic kidney disease (OMIM #263200, ARPKD) is highly variable and includes polycystic kidneys, pulmonary hypoplasia, and congenital hepatic fibrosis. The authors report an unusual case of ARPKD presenting with hepatosplenomegaly and cytopenia mimicking acute leukemia.

Liver CirrhosisMalePathologymedicine.medical_specialtyAdolescentPancytopeniaHepatosplenomegalyurologic and male genital diseasesPulmonary hypoplasiahemic and lymphatic diseasesmedicineHumanscytopeniaPolycystic Kidney Autosomal RecessivesplenomegalyCytopeniaAcute leukemiapolycystic kidney diseasebusiness.industryHematologymedicine.diseasePancytopeniaeye diseasesfemale genital diseases and pregnancy complicationsAutosomal Recessive Polycystic Kidney DiseaseOncologyDisease PresentationPediatrics Perinatology and Child HealthCongenital hepatic fibrosismedicine.symptomTomography X-Ray ComputedbusinessHepatomegalyJournal of Pediatric Hematology/Oncology
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Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

2018

Abstract Background Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation. Methods A retrospective study was carried out on newborns with prenatally diagnosed intrathoracic mass. Gathering for respiratory distress syndrome (RDS), 35 neonates were compared for clinical course, cardiovascular enzymes, ECG, and ultrasound. Results The analysis revealed a high left heart defect rate in patients with severe RDS, without being influenced by the laterality. Ultrasound or laboratory assessment did not detect altered cardiac dimension or cardiomyopathy. Solely ECG signs…

Prenatal DiagnosiMaleCardiomyopathyCardiovascular abnormalitiesCongenital diaphragmatic herniaCohort StudiesElectrocardiography0302 clinical medicineRetrospective StudiePrenatal DiagnosisRespiratory system abnormalitiesDiaphragmatic hernia030219 obstetrics & reproductive medicineRespiratory distressCardiovascular abnormalitieUltrasoundClinical courselcsh:RJ1-570PrognosisSurvival RateRetrospective studyCardiologyFemaleHumanHeart Defects Congenitalmedicine.medical_specialtyPrognosiRisk AssessmentUltrasonography Prenatal03 medical and health sciencesPulmonary hypoplasia030225 pediatricsInternal medicinemedicineHumansAbnormalities MultipleRetrospective StudiesRespiratory Distress Syndrome Newbornbusiness.industryResearchInfant NewbornRespiratory system abnormalitieCongenital diaphragmatic herniaUltrasonography DopplerRetrospective cohort studylcsh:Pediatricsmedicine.diseaseCohort StudieHernias Diaphragmatic CongenitalbusinessItalian Journal of Pediatrics
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Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia.

1999

Pulmonary hypoplasia was diagnosed sonographically in 32 fetuses from 20 to 33 weeks of gestation. In addition to standard biometry, transverse thoracic diameter (TTD), sagittal thoracic diameter (TSD), thoracic circumference (TC) and lung diameter (LD) were measured in all cases and compared with known nomograms. The fetuses were divided into five groups according to the main sonographic findings: group 1—skeletal dysplasia; group 2—renal agenesis; group 3—diaphragmatic hernia; group 4—hydrothorax; and group 5—others. Severe pulmonary hypoplasia (PH) was diagnosed prenatally in all cases on the basis of LD measurements. In 17 (53.1 per cent) out of 32 cases TTD was below the 5th percentile…

ThoraxLung Diseasesmedicine.medical_specialtyHydrothoraxGestational AgeKidneyUltrasonography PrenatalPulmonary hypoplasiaPregnancyMedicineHumansDiaphragmatic herniaProspective StudiesRenal agenesisLungGenetics (clinical)Hernia DiaphragmaticBone Diseases DevelopmentalLungbusiness.industryRespiratory diseaseObstetrics and GynecologyThoraxmedicine.diseaseHypoplasiaSurgeryFetal Diseasesmedicine.anatomical_structureAgenesisFemaleRadiologybusinessPrenatal diagnosis
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F75Determining fetal lung volume using three-dimensional-ultrasonography

2000

Background The aim of the study was to establish fetal lung, thoracic and heart volume nomograms using 3D-ultrasonography. Method For this purpose 115 fetuses were examined (between 18 and 33 weeks of gestation) using Voluson 530D (Kretztechnik, Austria) ultrasound device and 5 MHZ three-dimensional annular volume transducer. Lung volumes of 15 fetuses suffering from skeletal dysplasia, renal agenesis or hydrothorax and secondary pulmonary hypoplasia were compared with previously established nomograms. Results Lung volumes in the pathologic group of fetuses compared to the nomograms were below the 5% for gestational age. Conclusion The encouraging first results suggest that this method coul…

medicine.medical_specialtyFetusRadiological and Ultrasound Technologybusiness.industryObstetrics and GynecologyGestational ageGeneral MedicineNomogrammedicine.diseaseSurgeryPulmonary hypoplasiaReproductive MedicineDysplasiamedicineHydrothoraxRadiology Nuclear Medicine and imagingLung volumesRadiologybusinessRenal agenesisUltrasound in Obstetrics and Gynecology
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Right posterior diaphragmatic hernia (Bochdalek) with liver involvement and alteration of hepatic outflow in adult: a case report

2016

Introduction Posterior right diaphragmatic hernia is rare in newborn patients but when present, is accompanied by high mortality. Pulmonary hypoplasia seems to be the main cause of death but the presence of liver involvement remains one of the reasons for poor prognosis even when intrauterine surgery is performed. Case Description In this article, we will present a rare case that was diagnosed by chance in a 65-year old adult presenting with an adenocarcinoma of the rectosigmoid junction and a right Bochdalek hernia with liver herniation and modification of the hepatic vein outflow with a natural right to left shunt. Discussion Diaphragmatic repair was performed on the patient with a mash a…

medicine.medical_specialtyRight-to-left shuntDiaphragmatic breathingHepatic veinBochdalek03 medical and health sciencesPulmonary hypoplasia0302 clinical medicinemedicine.arterymedicineDiaphragmatic herniaRight diaphragmatic herniaVeinCause of deathMultidisciplinaryCase Studybusiness.industryLiver herniationmedicine.diseaseSurgeryBochdalek herniamedicine.anatomical_structure030220 oncology & carcinogenesisAdenocarcinoma030211 gastroenterology & hepatologybusinessSpringerPlus
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