Variation in Major Pulmonary Fissures: Incidence in Fetal Postmortem Examinations and a Review of Significant Extrapulmonary Structural Abnormalities in Sixty Cases

1998 ◽  
Vol 1 (4) ◽  
pp. 289-294 ◽  
Author(s):  
A.W. Bates
Keyword(s):  
Pulmonary Hypoplasia ◽  
Chromosomal Abnormalities ◽  
Renal Dysplasia ◽  
Situs Inversus Totalis ◽  
Postmortem Examination ◽  
Structural Abnormalities ◽  
Appropriate For Gestational Age ◽  
Cystic Renal Dysplasia ◽  
Left Right Asymmetry ◽  
Postmortem Examinations

A retrospective study of 1513 fetal postmortem examination reports from 1967 to 1996 yielded 35 cases with anomalous major pulmonary fissures (2.3%), to which a further 25 cases were added from fetal postmortem examinations performed between 1929 and 1966. Of 60 cases with anomalous fissures, 43 had an absent right horizontal fissure and 8 had a supernumerary left horizontal fissure; the remaining 9 showed various patterns in which one lung lacked major fissures. Histological examination in 29 cases did not reveal any additional pulmonary abnormality and pulmonary maturity was appropriate for gestational age. Additional malformations were present in 40 cases and these were frequently multiple, the most common being central nervous system, cardiovascular, and genitourinary system defects; notable heart malformations (10 cases); hydrocephalus (5 cases); and cystic renal dysplasia (4 cases). Chromosomal abnormalities were demonstrated in six cases although this figure does not reflect their prevalence, as many cases predate the availability of karyotyping. In seven cases, including three with polysplenia syndrome and one with situs inversus totalis, there was evidence of an underlying abnormality of left–right asymmetry, and in 13 cases there was documented pulmonary hypoplasia.

scholarly journals A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

PLoS ONE ◽  
2018 ◽  
Vol 13 (9) ◽  
pp. e0204073 ◽  
Author(s):  
Kati J. Dillard ◽  
Marjo K. Hytönen ◽  
Daniel Fischer ◽  
Kimmo Tanhuanpää ◽  
Mari S. Lehti ◽  
...  
Keyword(s):  
Hepatic Fibrosis ◽  
Splice Site ◽  
Renal Dysplasia ◽  
Cystic Renal Dysplasia ◽  
Splice Site Variant

scholarly journals Agreement between premortem and postmortem diagnoses in patients with acquired immunodeficiency syndrome observed at a brazilian teaching hospital

1997 ◽  
Vol 39 (4) ◽  
pp. 217-222 ◽  
Author(s):  
Aércio Sebastião BORGES ◽  
Marcelo Simão FERREIRA ◽  
Sérgio de Andrade NISHIOKA ◽  
Marco Túlio Alvarenga SILVESTRE ◽  
Arnaldo Moreira SILVA ◽  
...  
Keyword(s):  
Acquired Immunodeficiency Syndrome ◽  
Causes Of Death ◽  
Single Case ◽  
Postmortem Examination ◽  
Multiple Infections ◽  
Postmortem Diagnosis ◽  
Clinical Diagnoses ◽  
Acquired Immunodeficiency ◽  
Immunodeficiency Syndrome ◽  
Postmortem Examinations

Acquired immunodeficiency syndrome (AIDS) is one of the main causes of death in adults worldwide. More commonly than in the general population, in patients with AIDS there is substantial disagreement between causes of death which are clinically suspected and those established by postmortem examination. The findings of 52 postmortem examinations were compared to the premortem (clinical) diagnoses, and there was 46% agreement between them. Fifty two percent of the patients had more than one postmortem diagnosis, and 48% had at least one AIDS-related disease not suspected clinically. Cytomegalovirus infection was the commonest (30.7%) autopsy finding, but not a single case had been suspected premortem. Bacterial infection, tuberculosis, and histoplasmosis were also common, sometimes not previously suspected, postmortem findings. This study shows that multiple infections occur simultaneously in AIDS patients, and that many among them are never suspected before the postmortem examination. These findings suggest that an aggressive investigation of infections and cancers should be done in patients with AIDS, particularly in those who do not respond to therapy of an already recognized condition

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

2019 ◽  
Vol 23 (3) ◽  
pp. 235-239
Author(s):  
Sakil Kulkarni ◽  
Brooj Abro ◽  
Maria Laura Duque Lasio ◽  
Janis Stoll ◽  
Dorothy K Grange ◽  
...  
Keyword(s):  
Cardiac Failure ◽  
Renal Dysplasia ◽  
Cardiomyocyte Hypertrophy ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Genes Encoding ◽  
Cystic Renal Dysplasia ◽  
Cystic Renal Disease ◽  
Compound Heterozygous Variants

We report a term female infant born to nonconsanguineous parents who presented with renal failure at birth, hypothyroidism, cholestasis, and progressive cardiac dysfunction. Multigene next-generation sequencing panels for cholestasis, cardiomyopathy, and cystic renal disease did not reveal a unifying diagnosis. Whole exome sequencing revealed compound heterozygous pathogenic variants in ANKS6 (Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6), which encodes a protein that interacts with other proteins of the Inv compartment of cilium ( NEK8, NPHP2/INVS, and NPHP3). ANKS6 has been shown to be important for early renal development and cardiac looping in animal models. Autopsy revealed cystic renal dysplasia and cardiomyocyte hypertrophy, disarray, and focal necrosis. Liver histology revealed cholestasis and centrilobular necrosis, which was likely a result of progressive cardiac failure. This is the first report of compound heterozygous variants in ANKS6 leading to a nephronopthisis-related ciliopathy-like phenotype. We conclude that pathogenic variants in ANKS6 may present early in life with severe renal and cardiac failure, similar to subjects with variants in genes encoding other proteins in the Inv compartment of the cilium.

scholarly journals Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

2020 ◽  
Author(s):  
Xiaorui Xie ◽  
Xiaoqing Wu ◽  
Linjuan Su ◽  
Meiying Cai ◽  
Ying Li ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Snp Array ◽  
Nasal Bone ◽  
Chromosomal Microarray Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Fetal Nasal Bone ◽  
Structural Abnormalities

Abstract Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture. Single nucleotide polymorphism microarray (SNP-array) was used to analyze fetal chromosomes.Results: Of the 102 fetuses with nasal bone absence or hypoplasia, 25 (24.5%) had chromosomal abnormalities, including 15 cases of trisomy 21, one trisomy 18 case, and 9 cases of other copy number variations. Among the 52 cases with isolated nasal bone absence or hypoplasia, 7(13.5%) had chromosomal abnormalities. In 50 cases, abnormal nasal bone with additional soft markers or structural abnormalities was observed, while 18 cases (36.0%) had chromosomal abnormalities, which were significantly higher than that among the fetuses with isolated nasal bone abnormality.Conclusion: Fetal nasal bone absence or hypoplasia can be used as an indication for prenatal diagnosis. The detection rate of chromosomal abnormalities increases with additional soft markers or structural abnormalities. This study demonstrates that fetal nasal bone absence or hypoplasia is associated with micro-deletions or micro-duplications of chromosomes. Application of single nucleotide polymorphism microarray (SNP-array) technology can reduce the rate of missed prenatal diagnoses.

scholarly journals Clinical case of congenital diaphragmatic hernia

2021 ◽  
Vol 5 ◽  
pp. 56-60
Author(s):  
O.Ya. Slobodyanik ◽  
V.V. Bila ◽  
V.M. Tyshkevych ◽  
M.V. Protsyk ◽  
V.S. Shevchenko
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Clinical Observation ◽  
Pulmonary Hypoplasia ◽  
Chromosomal Abnormalities ◽  
Three Dimensional ◽  
Fetal Mri ◽  
Subsequent Treatment ◽  
Term Pregnancy ◽  
Anatomical Variant

Congenital diaphragmatic hernia is a rare congenital anomaly of diaphragmatic development with a frequency of approximately 1 in 2,500 live births. The structural defect is accompanied by pathophysiological disorders, in particular, pulmonary hypertension, as well as pulmonary hypoplasia of various degrees, which actually determine the severity of the defect. In 84% of cases, the diaphragmatic hernia is located on the left dome of the diaphragm, possible right-sided and left-sided localization of the malformation, which is 14 and 2%, respectively.The defect can be either isolated or combined with other congenital anomalies, such as congenital heart disease or chromosomal abnormalities. Violation of the closure of the diaphragm during the 4-10th week of fetal development leads to the formation of the diaphragmatic grid. During the same period (5th week of gestation) is the formation of lungs and bronchs. Three-dimensional ultrasound diagnosis allows to detect prenatal defect in almost 60% of fetuses. Fetal MRI is a method of choosing the anatomical assessment of the lungs, determining their volume allows you to more accurately predict the development of complications and the required amount of care after birth. The article is devoted to the description of clinical observation of ENT with a description of the features of perinatal diagnosis and organization of postnatal care. The defect was diagnosed at 31 weeks, vaginal delivery occurred during full-term pregnancy. The complex of resuscitation measures, preoperative preparation, the course of the postoperative period is described. Timely prenatal diagnosis of EDC and its anatomical variant makes it possible to correctly develop the patient’s route, starting with the tactics of pregnancy, method of delivery, as well as to predict the algorithm of staff actions at birth and subsequent treatment of the newborn.

scholarly journals Nonrandom chromosomal rearrangements of 14q32.3 and 19p13.3 and preferential deletion of 1p in 21 patients with multiple myeloma and plasma cell leukemia

Blood ◽  
1994 ◽  
Vol 84 (7) ◽  
pp. 2283-2290 ◽  
Author(s):  
M Taniwaki ◽  
K Nishida ◽  
T Takashima ◽  
H Nakagawa ◽  
H Fujii ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cell ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Plasma Cell Leukemia ◽  
Chromosome 1 ◽  
Cell Leukemia ◽  
Structural Abnormalities ◽  
Break Points

Structural chromosomal abnormalities and their break-points were characterized in 17 patients with multiple myeloma (MM) and 4 with plasma cell leukemia by banding. Chromosome 14q32 translocations with a variety of partners were detected in 13 patients, and a variant translocation t(8;22)(q24.1;q11) was detected in 1. Three recurrent 14q32 translocations have been identified: t(6;14)(p21.1;q32.3) occurring in 3 cases, and t(11;14)(q13;q32.3) and t(14;18) (q32.3;q21.3) each occurring in 2 cases. Translocations t(1;14)(q21;q32.3), t(3;14)(p11;q32),t(7;14)(q11.2;q32.3), and t(11;14)(q23;q32.3) were found in each patient, whereas in the remaining 2 patients, partner chromosomes could not be determined. The band 19p13.3 was newly delineated as a recurrent breakpoint involved in translocations in MM. Chromosomes 1 and 6 were also commonly involved in structural abnormalities (14 and 10 patients, respectively), although no particular bands were noted. However, the short arm of chromosome 1 was preferentially involved in deletion, suggesting a certain antioncogene on 1p associated with the development of myeloma. In addition; fluorescence in situ hybridization was successfully applied to determine the nature of the structural abnormalities in a patient with t(8;22) translocation. The present findings suggest that there may be subsets of 14q32 translocations specific to MM.

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