-
Scientific Reports Sep 2021The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical...
The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward's syndrome, abnormal mosaicisms and Patau's syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.
Topics: Adult; Amniocentesis; Chromosome Aberrations; Congenital Abnormalities; Female; Humans; Iran; Prenatal Diagnosis
PubMed: 34593920
DOI: 10.1038/s41598-021-98928-3 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2018Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from...
BACKGROUND
Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from 0.31% to 1.82% in the published literature.
OBJECTIVES
The primary objective was to describe the main etiological, clinical and radiological characteristics of patients with BMCs and the existent treatment options. The secondary objective was to simultaneously include the characteristics of two new cases of BMC.
MATERIAL AND METHODS
An electronic search in Pubmed (MEDLINE), Scopus and The Cochrane Library was carried out by two independent reviewers until April 2018. Prospective or retrospective cohort studies, case series and case reports describing clinical and/or radiological characteristics of patients with BMC were included. Registered variables were demographic, etiological factors, diagnostic exam, clinical characteristics and treatment options. The results from the articles selected were organized in a Table along with the characteristics of two new cases of BMC provided by the authors.
RESULTS
From a total of 431 articles found in the initial search, 68 articles were finally included. This systematic review included 216 patients and 270 BMC with an average age of 30.6 (SD=14.7) years and a women:men ratio of 1.4:1. Mediolateral condylar orientation was the most prevalent position (80.1%). Among cases with known etiology, 40.8% of cases had a history of traumatism, while 55.9% did not present any relevant medical background. Half of the symptomatic cases had history of trauma. The most common symptoms were hypomobility (22.7%), arthralgia (18.1%), articular noise (17.2%) and ankylosis (17.6%). Active monitoring and manufacturing an occlusal splint were the most frequent treatment options.
CONCLUSIONS
BMC may have congenital or traumatic etiology. Hypomobility and arthralgia are the most frequent symptoms and treatment options are often conservative.
Topics: Congenital Abnormalities; Female; Humans; Male; Mandibular Condyle; Middle Aged
PubMed: 30341271
DOI: 10.4317/medoral.22681 -
Anales Del Sistema Sanitario de Navarra 2010Venous malformations represent 2/3rds of all vascular malformations and are frequently much more complex than they appear to be. Patients with large venous malformations... (Review)
Review
Venous malformations represent 2/3rds of all vascular malformations and are frequently much more complex than they appear to be. Patients with large venous malformations require a deep analytical and radiological study, as well as specific treatment to control any possible localised intravascular coagulation. If the lesions are extensive, especially in the lower member, a study should be made to detect the presence of an underlying osteoporosis with the idea of preventing pathological fractures. Equally, a check must be made for arthropathy, and an early prophylactic synovectomy must be considered when the radiological extension makes this advisable, with the idea of avoiding irreversible damage to the joints with the passage of time. Currently, microfoam scleropathy is favoured as the treatment of choice for low-flow vascular malformations. In the not too distant future, the use of selective antiangiogenic medicines, besides low-molecular-weight heparins, will serve to control and treat malformations.
Topics: Congenital Abnormalities; Decision Trees; Humans; Veins
PubMed: 21233865
DOI: 10.4321/s1137-66272010000400006 -
American Journal of Medical Genetics.... Sep 2021In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive-type defects, but also patterns... (Review)
Review
In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive-type defects, but also patterns of anomalies that suggest that hypoxia can exert a more classic teratogenic effect, using the brain as one example. We review neuropathology in the context of intrauterine hypoxia, particularly as it relates to carbon monoxide poisoning, in utero strokes, and homozygous alpha-thalassemia. In general, the associated brain injuries resemble those seen with other causes of hypoxic-ischemic injury. Fetal strokes during development usually lead to loss of brain tissue in areas that do not follow a typical embryologic pattern, and therefore are considered disruptions. However, there is also evidence that fetal brain ischemia can cause more classically recognized patterns of abnormal embryonic neuronal migration and organization such as polymicrogyria, cortical dysplasia, or dysgenesis, including select types of focal cortical dysplasia. This study summarizes available literature and evidence to raise clinicians' awareness regarding the association between hypoxia and congenital anomalies, including brain malformations.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Humans; Hypoxia; Teratogenesis; Teratogens
PubMed: 33938618
DOI: 10.1002/ajmg.a.62235 -
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 -
Pediatric Nephrology (Berlin, Germany) Oct 2007Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These... (Review)
Review
Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources.
Topics: Animals; Congenital Abnormalities; Disease Models, Animal; Genetic Variation; Genome; Humans; Kidney; Mice; Phenotype
PubMed: 17437132
DOI: 10.1007/s00467-007-0479-1 -
Iranian Journal of Kidney Diseases Nov 2019Renovascular hypertension is known to occur due to varied causes. Absence of Renal artery stenosis or changes in renal vascular flow make it tough to establish a...
Renovascular hypertension is known to occur due to varied causes. Absence of Renal artery stenosis or changes in renal vascular flow make it tough to establish a diagnosis of renovascular hypertension in the absence of invasive investigations. Segmental renal hypoplasia is not only a rare cause for renin mediated hypertension but also requires expertise and high index of suspicion while evaluating children with hypertension. We describe the classical imaging findings of a child with secondary hypertension which was due to hypoplasia of a renal segment.
Topics: Child; Congenital Abnormalities; Humans; Hypertension, Renovascular; Kidney; Kidney Function Tests; Male; Tomography, X-Ray Computed
PubMed: 31880582
DOI: No ID Found -
Cirugia Y Cirujanos 2015Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to... (Review)
Review
BACKGROUND
Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to identify this malformation. The purpose of this article is to present a case of gallbladder agenesis diagnosed during surgery, its management, and a review of the literature.
CLINICAL CASE
The case involves a sixty-two year- old female, referring to repeated biliary colic symptoms. The abdominal ultrasound diagnosed cholelithiasis. It was impossible to identify the gallbladder during surgery. Diagnosis was confirmed by intra-operative cholangiography.
DISCUSSION
Preoperative diagnostic workup has failed to recognise patients with gallbladder agenesis. It is currently recommended to abandon the surgery once this diagnosis is suspected and confirm it by a cholangio-magnetic resonance scan in order to avoid a bile duct injury.
CONCLUSIONS
Agenesis of the gallbladder is a rare congenital abnormality of the biliary tree. Every surgeon must keep this rare entity in mind when a "difficult dissection" or an anatomic variant is identified during surgery, and make use of an intra-operative cholangiography, mainly to prevent a bile duct injury.
Topics: Biliary Tract Diseases; Cholangiography; Cholecystectomy, Laparoscopic; Cholelithiasis; Colic; Congenital Abnormalities; Cystic Duct; Diagnostic Errors; Female; Gallbladder; Humans; Intraoperative Care; Middle Aged; Postoperative Complications; Ultrasonography
PubMed: 26162488
DOI: 10.1016/j.circir.2015.05.043 -
The American Journal of Clinical... Jun 2010
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Obesity; Pregnancy; Pregnancy Complications
PubMed: 20427732
DOI: 10.3945/ajcn.2010.29666 -
American Family Physician Oct 2018
Topics: Casts, Surgical; Congenital Abnormalities; Female; Humans; Infant, Newborn; Knee Dislocation; Orthopedics
PubMed: 30277737
DOI: No ID Found