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Congenital Anomalies Jan 2020The aim of this study is to evaluate the significance of renal pelvis aspiration (RPA) in the management of antenatal hydronephrosis (AHN). This study enrolled 15 AHN...
The aim of this study is to evaluate the significance of renal pelvis aspiration (RPA) in the management of antenatal hydronephrosis (AHN). This study enrolled 15 AHN cases (one twin pregnancy) that necessitated RPA for AHN. Chromosomal abnormalities, gene disorders, and additional life-threatening congenital abnormalities were eliminated prior to intrauterine interventions. Urine analysis were performed for the evaluation of renal function. Normal renal function was observed in six neonates/infants (40%) (group 1), whereas impaired renal function and various type of urinary system anomalies were observed in 9 neonates/infants (60%) (group 2) during the short-term and longitudinal follow-up periods. There were statistically significant differences in the oligohydroamniosis rate, mean fetal urine sodium value, mean fetal urine β2-microglobulin, mean gestational week at birth, and mean birthweight values between the groups (P = 0.007, P < 0.001, P = 0.035, P < 0.001, and P = 0.001, respectively). Renal pelvis aspiration and urine analysis were substantial for the management of AHN in necessary cases. β2-microglobulin and sodium are clinically useful markers to detect the presence of severe renal damage due to obstructive uropathy and thus, important adjuvants in the proper selection of fetuses for further antenatal interventions.
Topics: Congenital Abnormalities; Female; Fetal Diseases; Gestational Age; Humans; Hydronephrosis; Infant, Newborn; Kidney; Kidney Pelvis; Male; Pregnancy; Prenatal Diagnosis; Risk Factors; Ultrasonography, Prenatal; Urogenital Abnormalities; beta 2-Microglobulin
PubMed: 30629771
DOI: 10.1111/cga.12324 -
AORN Journal Jul 2022Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st... (Review)
Review
Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st chromosome. Down syndrome is associated with numerous comorbidities that can pose challenges for the perioperative nurse caring for a patient with DS undergoing surgery. These challenges can affect the patient assessment, communication with the patient, and patient safety (eg, preventing complications). As the life expectancy of people with DS has increased, so too have the chances that perioperative nurses will care for a patient with this disorder. This article reviews the pathophysiology of DS, discusses common comorbidities that may directly affect perioperative care, and reviews an exemplar case study that demonstrates how personnel with knowledge of DS can positively influence surgical team decision making for these patients in the perioperative setting.
Topics: Down Syndrome; Humans
PubMed: 35758744
DOI: 10.1002/aorn.13712 -
Congenital Anomalies Jan 2021We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the...
We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the Rivne Province of Ukraine, a northern half (Polissia) polluted by Chornobyl radiation and not-Polissia areas. Monitoring of congenital malformations was conducted with adherence to methods adopted by a European surveillance network (EUROCAT). Incorporated Cs137 (Bq/kg) by pregnant women residing in the Polissia and not-Polissia areas were obtained concurrently with prenatal ultrasound examinations. In Polissia, the incorporated Cs137 levels by pregnant women as well as the prevalence rates of NDTs and MIC are significantly higher than in not-Polissia. In Polissia, the prevalence rates of NDTs and MIC are among the highest in Europe. The debate concerning the teratogenic impact of chronic exposures to low levels of ionizing radiation was re-ignited by our 2010 report. Health agencies uphold the notion that exposure to Chornobyl radiation levels are too low to be teratogenic, which is inconsistent with our observations. Further investigations in Rivne by international teams can, we believe, contribute facts to the ongoing debate. Our monitoring system, experience and data can facilitate concurrent investigations of teratogenic risks from exposures to other sources of ionizing radiation, alcohol, folate, and zinc deficiencies, among other risk factors. Study of genomic impacts can likewise be undertaken.
Topics: Blood Cell Count; Cesium Radioisotopes; Chernobyl Nuclear Accident; Congenital Abnormalities; Female; Geography, Medical; Humans; Microcephaly; Neural Tube Defects; Pregnancy; Prevalence; Public Health Surveillance; Ukraine
PubMed: 33405251
DOI: 10.1111/cga.12388 -
European Journal of Medical Genetics Mar 2021Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is... (Review)
Review
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is genetically related to which various candidate genes have been identified. The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported to be a co-activator of the retinoic acid receptor gene (RAR). Thus expression levels of GREB1L have implications on renal system cellular differentiation, morphogenesis, and homeostasis in vertebrates. Variants of GREB1L have been reported in familial and sporadic MRKH Syndrome and more importantly, in a three-generation family ofMRKH syndrome propositae. Much the same way, Mutants of GREB1L have also been identified in isolated bilateral renal agenesis and deafness both of which are extra-genital tract anomalies in MRKH type 2. Again, renal agenesis transgenic mice have been produced from an E13.5 CRISPR/cas9 GREB1L mutagenesis. Though no GREB1L mutation has been reported in cardiac malformation, there is evidence that GREB1L is involved in ventricular development. Here, we intorigate evidence that projects GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome and propose that functional validation analysis to that effect is imparative.
Topics: 46, XX Disorders of Sex Development; Animals; Congenital Abnormalities; Humans; Mullerian Ducts; Mutation; Neoplasm Proteins; Phenotype
PubMed: 33548512
DOI: 10.1016/j.ejmg.2021.104158 -
International Journal of Molecular... Oct 2021Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser... (Review)
Review
Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.
Topics: 17-Hydroxysteroid Dehydrogenases; 46, XX Disorders of Sex Development; Amenorrhea; Androgen-Insensitivity Syndrome; Cervix Uteri; Cholestenone 5 alpha-Reductase; Congenital Abnormalities; Disorder of Sex Development, 46,XY; Female; Humans; Male; Mullerian Ducts; Testis; Vagina
PubMed: 34768925
DOI: 10.3390/ijms222111495 -
Advances in Experimental Medicine and... 2024Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It... (Review)
Review
Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It is characterized by an abnormality of the tricuspid valve, where the valve is positioned lower than normal in the right ventricle. Although primarily a tricuspid valve defect, the right ventricle itself is often structurally abnormal and weakened (myopathic).
Topics: Ebstein Anomaly; Humans; Tricuspid Valve; Heart Ventricles
PubMed: 38884758
DOI: 10.1007/978-3-031-44087-8_56 -
Nagoya Journal of Medical Science Nov 2019Congenital esophageal stenosis (CES) is a type of esophageal stenosis, and three histological subtypes (tracheobronchial remnants, fibromuscular thickening or... (Review)
Review
Congenital esophageal stenosis (CES) is a type of esophageal stenosis, and three histological subtypes (tracheobronchial remnants, fibromuscular thickening or fibromuscular stenosis, and membranous webbing or esophageal membrane) are described. Symptoms of CES usually appears with the introduction of the semisolid alimentation. Dysphagia is the most common symptom, but esophageal food impaction, respiratory distress or failure to thrive can be clinical manifestations of CES. Wide spectrum of differential diagnoses leads to delayed definitive diagnosis and appropriate treatment. Depends on hystological subtype of CES, some treatment procedures (dilation or segmental esophageal resection) are recommended, but individually approach is still important in terms of frequency and type of dilation procedures or type of the surgical treatment. Dysphagia can persist after the treatment and a long follow-up period is recommended. In 33% of patients with CES, a different malformations in the digestive system, but also in the other systems, are described.
Topics: Animals; Congenital Abnormalities; Deglutition Disorders; Esophageal Atresia; Esophageal Stenosis; Humans; Models, Biological
PubMed: 31849372
DOI: 10.18999/nagjms.81.4.535 -
Archives of Gynecology and Obstetrics Sep 2023The authors discuss the incidence, the embryological development, the classification, the presentation and the treatment options of this rare reproductive tract... (Review)
Review
The authors discuss the incidence, the embryological development, the classification, the presentation and the treatment options of this rare reproductive tract abnormality. In the past, the treatment proposed almost unanimously was hysterectomy and subsequent construction, when necessary, of a neovagina. In recent decades, numerous experiences of conservative therapies have accumulated that allow the restoration of menstrual function and in some rare cases even the achievement of a pregnancy. However, complications associated with recanalization of the cervix frequently resulted in the need for repeated surgery, risk of serious and sometimes fatal ascending infection. This review aims to analyze the most recent and significant experiences of conservative surgery in this field to provide an accurate picture of the various techniques and their outcomes, especially from the point of view of fertility. Conservative surgery should now be considered as the first-line treatment option. On the other hand, it is not possible to draw conclusions on the superiority of one technique over another among the various conservative options. This would require large series with adequate follow-up, which unfortunately are not available.
Topics: Pregnancy; Female; Humans; Cervix Uteri; Surgery, Plastic; Uterine Cervical Neoplasms; Plastic Surgery Procedures; Hysterectomy; Vagina; Congenital Abnormalities
PubMed: 36305896
DOI: 10.1007/s00404-022-06825-5 -
JPMA. the Journal of the Pakistan... Apr 2023Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features,...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
Topics: Infant, Newborn; Humans; Male; Intellectual Disability; Abnormalities, Multiple; Micrognathism; Hand Deformities, Congenital; Neck
PubMed: 37052010
DOI: 10.47391/JPMA.5157 -
International Journal of Molecular... Jun 2021Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent... (Review)
Review
Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the and genes, encoding, respectively, ASC-1 and ASCC1, two subunits of the ASC-1 (Activating Signal Cointegrator-1) complex. This complex is a poorly known transcriptional coregulator involved in transcriptional, post-transcriptional or translational activities. Inherited defects in components of the ASC-1 complex have been associated with several autosomal recessive phenotypes, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy). Additionally, antenatal bone fractures were present in the reported patients with mutations. Functional studies revealed that the ASC-1 subunit is a novel regulator of cell cycle, proliferation and growth in muscle and non-muscular cells. In this review, we summarize and discuss the available data on the clinical and histopathological phenotypes associated with inherited defects of the ASC-1 complex proteins, the known genotype-phenotype correlations, the ASC-1 pathophysiological role, the puzzling question of motoneuron versus primary muscle involvement and potential future research avenues, illustrating the study of rare monogenic disorders as an interesting model paradigm to understand major physiological processes.
Topics: Carrier Proteins; Congenital Abnormalities; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Multiprotein Complexes; Mutation; Neuromuscular Diseases; Transcription Factors
PubMed: 34204919
DOI: 10.3390/ijms22116039