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HPB : the Official Journal of the... May 2018Circumportal pancreas (CP) is an anatomical anomaly in the form of abnormal parenchymal fusion between the uncinate process and the pancreatic body, and it requires an...
BACKGROUND
Circumportal pancreas (CP) is an anatomical anomaly in the form of abnormal parenchymal fusion between the uncinate process and the pancreatic body, and it requires an additional parenchymal dissection during pancreaticoduodenectomy (PD). This study aimed to investigate the prevalence of CP in PD and to evaluate the incidence of postoperative pancreatic fistula (POPF) among CP patients.
METHODS
Patients who underwent PD from 2002 to 2012 (n = 552) were included. Operative records and preoperative images were independently reviewed to identify the presence of CP. The incidence of POPF was compared between CP and non-CP patients and was evaluated via multivariate analysis.
RESULTS
CP was confirmed from operative records in 7 (1.3%) patients, and abnormal parenchymal fusion was identified from preoperative images in 8 (1.4%) patients. The incidence of POPF was significantly higher in CP patients than in non-CP patients (71% vs 32%, P = 0.039). On multivariate analysis, CP was an independent predictive factor for POPF (odds ratio, 9.97; 95% confidence interval, 1.76-56.6; P = 0.009).
DISCUSSION
Surgeons should heed the presence of CP in PD because this rare anomaly requires an additional parenchymal dissection and may increase the incidence of POPF.
Topics: Adult; Aged; Aged, 80 and over; Congenital Abnormalities; Databases, Factual; Dissection; Female; Humans; Incidence; Japan; Male; Middle Aged; Pancreas; Pancreatic Fistula; Pancreaticoduodenectomy; Prevalence; Retrospective Studies; Risk Factors; Time Factors; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 29198420
DOI: 10.1016/j.hpb.2017.10.009 -
Anesthesiology Feb 2017
Topics: Congenital Abnormalities; Endoscopy; Humans; Infant, Newborn; Intubation, Intratracheal; Larynx
PubMed: 28098610
DOI: 10.1097/ALN.0000000000001337 -
Aging Aug 2020Because the numbers of detected fetal abnormalities increase as gestation progresses, we evaluated the safety and efficacy of cordocentesis for single nucleotide...
Because the numbers of detected fetal abnormalities increase as gestation progresses, we evaluated the safety and efficacy of cordocentesis for single nucleotide polymorphism (SNP) analysis tests in 754 women during third trimester pregnancy. Conventional karyotyping was performed on all fetuses, and Affymetrix CytoScan HD was used for SNP-array testing. In addition to the 24 cases with chromosomal abnormalities detected with conventional karyotyping analysis, the SNP-array test identified 56 (7.4%) cases with normal karyotypes but abnormal copy number variations (CNVs). Of those, 24 were pathogenic CNVs and 32 were of uncertain clinical significance. In 742 of the cases, there were abnormal sonographic findings, and cytogenetic abnormalities were detected in 76 cases (10.2%). The largest number of abnormalities involved multiple malformations (21.7%), followed by defects in the lymphatics or effusion (19.0%) or urogenital system (15.3%). The use of SNP-array test fully complemented chromosome karyotype analysis after late cordocentesis. It also improved the detection rate for fetal chromosomal abnormalities and was effective for preventing and controlling the occurrence of birth defects.
Topics: Abortion, Induced; Adult; Chromosome Aberrations; Congenital Abnormalities; Cordocentesis; DNA Copy Number Variations; Female; Gene Dosage; Genetic Predisposition to Disease; Genetic Testing; Humans; Karyotype; Karyotyping; Middle Aged; Polymorphism, Single Nucleotide; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Third; Prenatal Diagnosis; Ultrasonography, Prenatal; Young Adult
PubMed: 32805723
DOI: 10.18632/aging.103575 -
Revista Brasileira de Ginecologia E... Jun 2021The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right...
OBJECTIVE
The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA).
METHODS
This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records.
RESULTS
An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate.
CONCLUSION
The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.
Topics: Adolescent; Adult; Cardiovascular Abnormalities; Chromosome Aberrations; Congenital Abnormalities; Echocardiography; Female; Genetic Testing; Humans; Male; Pregnancy; Retrospective Studies; Subclavian Artery; Ultrasonography, Prenatal; Young Adult
PubMed: 34318470
DOI: 10.1055/s-0041-1732461 -
Public Health Reports (Washington, D.C.... 2001The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the...
The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.
Topics: Case-Control Studies; Congenital Abnormalities; Cooperative Behavior; Data Collection; Female; Genetic Markers; Genetic Predisposition to Disease; Humans; Infant, Newborn; Interviews as Topic; Maternal Exposure; Mental Recall; Mothers; Mouth Mucosa; Neonatal Screening; Population Surveillance; Pregnancy; Primary Prevention; Registries; Risk Factors; United States
PubMed: 11889273
DOI: 10.1093/phr/116.S1.32 -
HNO Jan 2024Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established... (Review)
Review
Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years.
Topics: Humans; Congenital Abnormalities; Congenital Microtia; Ear Diseases; Ear, External; Hearing; Hearing Tests
PubMed: 38047932
DOI: 10.1007/s00106-023-01386-8 -
Romanian Journal of Morphology and... 2007Congenital anomalies of the kidney and urinary tract are frequent. They can be detected once every 500 ultrasonography fetal examinations. Causes that determine a...
Congenital anomalies of the kidney and urinary tract are frequent. They can be detected once every 500 ultrasonography fetal examinations. Causes that determine a dilated ureter compared to the rest of the urinary tract are still partly unknown. If concerning the exploration and the clinical diagnosis of these anomalies important progresses have been made, the morphological research is still able to bring forth data that, together with genetic researches, may help reveal the pathogeny of the disease and may ease the planning of the screening genetic tests for early diagnosis. Material and methods. During the surgical operations realized in order to recalibrate the ureter, ureter fragments have been harvested, colored with 1% tionin, in sections thinner then 1 micron and examinated through immersion, ob. 100x. Other fragments have been prepared and examinated through electronic microscope. We have followed the structural modifications of the muscular tissue, nervous tissue, connective tissue and the rapports between these components. Results. Congenital megaureter presents qualitative and quantitative anomalies of the connective tissue and muscular tissue, and also structural modifications of the nervous tissue. Connective tissue. We have noticed the abundance of the connective tissue in congenital megaureter. Connective tissue, with an important representation of typical elements, such as fibroblasts, mastocytes and plasmocytes is partly hyalinated, dissociating muscular fiber bundles and nervous fiber bundles. Connective tissue/muscular tissue report is evidently increased. Muscular tissue. Muscular fibers are hypoplasic, smooth endoplasmic reticulum is present in the tubular form, rare mitochondria are vacuolized. Dense corps are increased in number, plasmatic membranes are folded. Sarcoplasm contains vacuolized organites. The nuclei are rigged with visible nucleoli. Nervous structures. We have noticed varied alterations of the axons and myelin. In some axons there are multiple cavities that may produce the opacifiation of the entire axonal structure. The proliferation of the myelin sheath under the nodular form or vortex form produces the destruction of the axonal structure. Mitochondria are condensed, partially vacuolized. The modifications in the axonal structure and those of the myelin sheath determine modifications of the nervous excitability and conductibility. All the lesions we have pointed out in congenital megaureter participate in compromising of the peristaltic. Nervous and muscular structures lesions indicate a process of incomplete development of the ureter. They are structures that do not achieve functional maturation. We may consider congenital megaureter as a digenesis with hypoplasia.
Topics: Congenital Abnormalities; Connective Tissue; Humans; Infant, Newborn; Kidney; Nervous System; Ureter
PubMed: 18060188
DOI: No ID Found -
Pediatrics and Neonatology Jun 2013
Topics: Chromosome Aberrations; Congenital Abnormalities; Humans; Incidence; Taiwan
PubMed: 23602238
DOI: 10.1016/j.pedneo.2013.02.002 -
Sexual Development : Genetics,... 2019Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery....
Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery. The aim of this study was to review all hypospadias cases that had surgery between 2009 and 2015 at a single centre and identify clinical determinants of the surgical outcome. An extra-genital congenital anomaly was reported in 139 (22%) boys and 62 (10%) had more than 1 anomaly. Of the 626 boys, 54 (9%), including 44 with proximal hypospadias, had endocrine as well as limited genetic evaluation. Of these, 10 (19%) had a biochemical evidence of hypogonadism and 5 (9%) had a molecular genetic abnormality. At least 1 complication was reported in 167 (27%) patients, with 20% of complications (most frequently fistula) occurring after 2 years of surgery. The severity of hypospadias and the existence of other anomalies were clinical factors that were independently associated with an increased risk of complications (p < 0.001). In conclusion, complications following surgery are more likely in those cases that are proximal or who have additional extra-genital anomalies. To understand the biological basis of these complications, there is a greater need to understand the aetiology of such cases.
Topics: Child, Preschool; Congenital Abnormalities; Genitalia; Hormones; Humans; Hypospadias; Infant; Male; Postoperative Complications; Risk Factors
PubMed: 30913557
DOI: 10.1159/000497260 -
Archives of Disease in Childhood Aug 1967
Topics: Adolescent; Adult; Bronchoscopy; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Lung; Lung Volume Measurements; Male; Prognosis; Radiography
PubMed: 4951635
DOI: 10.1136/adc.42.224.361