جستجوی مقالات مرتبط با کلیدواژه « congenital » در نشریات گروه « پزشکی »

This study aimed to determine postoperative cardiac and noncardiac complications and their association with the use of cardiopulmonary bypass (CPB), surgical outcomes (length of hospital and ICU stays), dependence on mechanical ventilation, and mortality.

This retrospective cross-sectional study was conducted on pediatric patients aged 0 to 18 who underwent open or closed cardiac surgery over a 1-year period. The use of CPB support, CPB duration, cardiac surgery complexity according to the risk-adjusted classification for congenital heart surgery (RACHS-1), and demographics were examined as potential risk factors associated with an increased number of postoperative complications. The study was performed at the Children’s Medical Center, a teaching hospital affiliated with Tehran University of Medical Sciences in Iran.

A total of 283 surgeries were included in our study. Seventy-six (26.9%) of the study population experienced at least 1 complication. Our analysis revealed that increased CPB durations were associated with higher odds of cardiac complications, with an odds ratio of 1.02 (P=0.002). Moreover, higher RACHS-1 levels were significantly associated with greater numbers of cardiac and noncardiac complications. Additionally, prolonged mechanical ventilation and open-heart surgery intensive care unit (OH-ICU) stays were significantly associated with cardiac and noncardiac complications. Our logistic regression analysis found no association between demographic and clinical risk factors, the number of complications, and mortality.

Postoperative complications occurred in 27% of pediatric heart surgeries. Prolonged mechanical ventilation and OH-ICU stays were significantly associated with cardiac and noncardiac complications. However, no significant association was found between postoperative complications and mortality.

Microphthalmia is regarded as the most common congenital malformation of the eye, second only to congenital cataract. Its association with an intraorbital cyst, however, is exceedingly rare. Cryptophthalmos represents a rare anomaly characterized by the partial or complete absence of the eyebrow, palpebral fissure, eyelashes, and conjunctiva. In this condition, the partially developed adnexa are fused to the anterior segment of the globe, leading to severe ocular defects. In this report, we present a rare case of congenital bilateral cryptophthalmos accompanied by an orbitopalpebral cyst and microphthalmos and the treatment results for the patient.

Children with Congenital Adrenal Hyperplasia (CAH) have a higher chance of hypertension. The likelihood of hypertension is higher in CAH children who get fludrocortisone medication and have an over-suppression. Plasma renin activity (PRA) is a sensitive indicator when the fludrocortisone dose is insufficient. The objective of this study is to assess the relationship between plasma renin activity with hypertension in 21-hydroxylase-deficient (21-OHD) CAH children.  This cross-sectional observational analytical study was conducted in 2019 at the Pediatric Endocrinology Outpatient Clinic in Dr. Cipto Mangunkusumo Hospital (RSCM), Jakarta, Indonesia. The subjects were 21-OHD CAH children, aged >6 months to 18 years who had already taken hydrocortisone with or without fludrocortisone for at least 6 months, and were divided into hypertension and non-hypertension groups. The subjects were selected by a consecutive sampling method. Data was analyzed using SPSS software (version 23.0) with unpaired t test analysis and multiple logistic regression test. Statistical significance was achieved if P<0.05. Forty 21-OHD CAH patients were included, and 20 subjects (50%) had hypertension. A higher incidence of hypertension was found in salt-wasting CAH than in simple virilizing types (59.3% vs 30.8%). There was a significant mean difference in PRA levels between hypertension and non-hypertension groups in salt-wasting patients (P=0.016). A significant difference between the last dose of hydrocortisone with the number of hypertension patients in salt-wasting patients (P=0.032) was found, and low PRA levels showed a 1.09 times higher risk of hypertension.  Children with salt-wasting CAH with low PRA levels had a higher risk of getting hypertension.

Seizures are a common presenting manifestation in children with amino acid metabolism disorders such as maple syrup urine disease (MSUD), nonketotic hyperglycinemia, sulfite oxidase deficiency, serine deficiency, and GABA-related disorders. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is often misdiagnosed as seizures. Metabolic changes, including amino acid turnover, have been noted during epileptogenesis and chronic epilepsy. Autophagy, a catabolic pathway crucial for maintaining tissue and organism homeostasis, is influenced by amino acids and plays a role in brain physiology and pathology, including epileptic disorders. Amino acid synthesis defects can cause neurological symptoms such as early-onset seizures, mental disability, and skin disorders. Besides neurological symptoms, amino acid metabolism disorders can impact other organ systems, resulting in various clinical manifestations. Early recognition and proper management of these disorders are vital for preventing long-term complications and enhancing patient outcomes. Ongoing research into the complex relationship between amino acid metabolism and neurological function may offer new insights into the pathogenesis of seizures and other neurological disorders.

Congenital heart defects (CHDs) are among the most prevalent congenital defects observed in neonates, leading to structural and functional abnormalities in the heart. This research examines the prevalence of CHDs and its various subcategories among neonates admitted at Shahid Sadoughi Hospital in Yazd, Iran, from 2022 to 2023. The study also aims to assess the presence of risk factors among infants diagnosed with CHDs. This is a descriptive cross-sectional study, encompassing all neonates diagnosed with CHDs. Echocardiography was conducted to classify the specific type of CHDs, and a questionnaire was administered to the parents of neonates with CHDs to identify potential risk factors. Out of 1149 newborns admitted to the hospital in one year, 29 (2.52%) were diagnosed with CHDs, and 9 of them died from the condition. The prevalence of CHDs and the mortality rate were 2.5% and 0.78%, respectively. The most common defect was atrial septal defect (ASD), affecting 19 newborns (65.5% of cases), and 15 newborns exhibited multiple defects within the subtypes of CHDs. Our research reveals that the incidence of CHDs among newborns in our area was 2.52%, with a mortality rate of 0.78% within a one-year timeframe. More than half of CHD cases were found in offspring of consanguineous unions, suggesting a potential risk factor within the Yazd community, likely linked to the prevalent custom of consanguineous marriages in the region.

CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction.

Twelve unrelated patients with CAH diagnosis were recruited for genetic counseling. To ensure distinct amplification of the CYP21A2 gene rather than its pseudogene, the complete sequence of the gene was amplified through two overlapping fragments by specific primers. The entire sequences were screened by direct Sanger sequencing using new sequencing primers.

Only two pathogenic point mutations were identified. The c.293-13C>G, also known as In2G, and the c.955C>T mutations were found in 37.5 and 33.3% of alleles, respectively. One patient showed homozygous gene deletion. We also reviewed recent reports on CYP21A2 gene mutations in Iran.

Evaluating the ethnicity-specific gene mutation data is significant for populations with diverse ethnic groups including the Iranian population. Although several common mutations have been reported as causative mutations among CAH patients, identifying only two common point mutations in Fars province would help prioritize exon sequencing and reduce the cost and time of genotyping.

Congenital heart defects (CHDs) are the most common type of birth defect. Affected children and adolescents with CHD require special care in dentistry because of their susceptibility to infective endocarditis from poor oral hygiene infections. The purpose of this study was to design and evaluate a mobile-based educational oral health application for children and adolescents with CHD.

This developmental study was conducted in 2021-2022 at the Pediatric Cardiovascular Research Center in Isfahan. My Structured Query Language (MySQL) system was used to design the database of educational oral health application. Also; the development phase was based on the Android platform. The design and development of a mobile-based educational oral health application was carried out in five stages, including analysis, design, development, implementation, and evaluation. A researcher-made questionnaire was used to evaluate the application. The statistical population of this was composed of 51 children and adolescents (3-18 years of age) with CHD and their parents.

The results of the evaluation of the usability of the educational oral health app from the children and adolescents' perspective with CHD showed that the "user-friendliness", "ease of use" and " educational impacts" of the app were evaluated as good.

The usage of this mobile application can be useful in improving the oral and dental health of children and adolescents with CHD.

Several studies have investigated the role of vascular endothelial growth factor (VEGF) variants, serum levels, and correlations with other extrinsic factors in congenital heart defects (CHDs); however, the findings need confirmation. The present systematic review evaluates the association between CHDs and genetic polymorphisms and serum expressions.

Relevant literature was searched through electronic databases using keywords and MeSH terms. VEGF activity was comparatively assessed between cyanotic and acyanotic CHDs, and the association between different polymorphisms and heart defects was evaluated.

We ultimately evaluated 12 studies regarding the association between VEGF serum patterns and found that serum VEGF levels were upregulated or downregulated in correlation with hypoxia and hemoglobin levels and were significantly associated with cyanotic CHDs compared with acyanotic CHDs. Our results also showed a significant role for different single-nucleotide polymorphisms, including rs699947, rs2010963, and rs3025039.

The findings of the current study suggested a significant association between CHDs and VEGF genetic polymorphisms or varied serum levels. Nevertheless, more comprehensive studies may provide conclusive results and valuable insights into the pathogenesis of CHDs and relevant treatment strategies.

Congenital heart disease (CHD), a developmental abnormality of the heart and vessels, is encountered in the pediatric age group frequently. Brachial artery flow-mediated dilation (FMD) and carotid intima-media thickness (CIMT) are indicators of subclinical cardiovascular disease and are used as surrogate measures of subclinical atherosclerosis. The present study aimed to compare CIMT and FMD between children with acyanotic congenital heart disease (ACHD) and healthy controls.

A case-control study on 50 children with ACHD and 43 healthy individuals was done in Isfahan, Iran, between 2021 and 2022. The case group was selected via non-random sampling, and healthy controls were recruited from the relatives of the patients. A checklist, including age, sex, body mass index, and blood pressure, was filled out for all the participants. Then, FMD and CIMT were measured with brachial and carotid artery ultrasonography.

Fifty children with ACHD and 43 healthy individuals (controls) under 18 years old participated in this study. Of these, 44 (47.3%) were girls and 49 (52.7%) were boys. The mean FMD was significantly higher in the ACHD group than in the control group (0.084±0.027 vs 0.076±0.042; P=0.021; 95% CI, 007 to 0.122;). CIMT was significantly higher in the ACHD group than in the control group (0.39±0.12 vs 0.34±0.1; P=0.037; 95% CI, 0.009 to 0.102;). However, systolic and diastolic blood pressure did not show differences between the groups.

Based on our results, CIMT and FMD assessment may help detect early changes in peripheral vessels associated with atherosclerosis in the future in ACHD. Further studies are needed to confirm our findings.

Congenital anomalies are responsible for a remarkable proportion of disability and mortality in newborns. Therefore, the aim of this study is to investigate the incidence and types of congenital anomalies in newborns born in Yazd hospitals during the years 2016 to 2021. In this cross-sectional descriptive study, the data of all live births from 2016 to 2021 in hospitals of Yazd were extracted from the database of the National Mother and Newborn Health Registration System of Shahid Sadoughi University of Medical Sciences. From a total of 151,566 live births during six years, congenital anomalies were seen in 1338 (0.88%) newborns. The most common congenital anomalies involved the cardiovascular system (0.31%), followed by musculoskeletal anomalies (0.16%), gastrointestinal tract (0.14%), and genital system (0.1%), respectively. The incidence increased from 0.63% in 2016 to 1.05% in 2021, with the highest incidence observed in 2020 (1.31%). The incidence of congenital anomalies in Yazd is lower than in most studies in Iran. However, shows an increasing trend over the years which can be due to the improvement of diagnostic methods especially in the case of congenital heart anomalies. However, more extensive studies on maternal risk factors and neonatal outcomes are needed.

The need for more fetal echocardiography by a specialist in isolated single umbilical artery (SUA) pregnancies is controversial. Therefore, this study aimed to investigate the frequency of SUA in fetal ultrasound in neonates with congenital heart disease (CHD) compared to neonates without CHD referred to Hazrat Masoumeh Hospital in 2019.

The files of all the neonates who underwent fetal ultrasound and echocardiography in 2019 were reviewed. Based on the results of the fetal echocardiography, these neonates were divided into two groups with/without cardiac abnormalities. Then, the results of fetal ultrasound performed in terms of the frequency of SUA were examined in the groups, and variables, such as birth, weight, gestational age, and gender were entered into the checklist. Finally, the frequency of SUA in fetuses with/without cardiac abnormalities was compared between the two groups.

The mean age of mothers in the SUA group was 32.47±8.7 years and in the normal group was 32.07±11.5 years. A total of 135 boys (54%) and 115 girls (46%) were examined in this study. No statistically significant relationship was found between maternal age (P=0.72), fetal gender (P=0.92), gestational age (P=0.42), and parity (P=0.92) despite the finding of a SUA. In the group of patients with CHD, 12 out of 125 patients (4.8%), and in the group without CHD, five out of 125 patients (2%) had an SUA. Although this number was highest in the group who had CHD, no statistically significant difference was found between the two groups (0.07).

The relationship between SUA in a fetus with normal ultrasound and CHD varies significantly with population selection criteria. The risk of CHD after diagnosing SUA in a normal fetus from an unselected population appears to be low and may not warrant specialized fetal echocardiography.

 Congenital malformation of mitral valve could encounter in isolation or with other congenital heart diseases.

 Here, we report a case of congenital hypoplastic anterior mitral valve leaflet (AMVL).

 A 30-year-old male with a history of diabetes mellitus was referred with pleuritic chest pain since the previous day. He was admitted with impression of pericarditis. Trans thoracic echocardiography showed no pericardial effusion with incidental finding of lipomatous change of mitral valve annulus and hypoplastic AMVL with mild to moderate mitral regurgitation.

 Cardiac magnetic resonance imaging showed thickening and fibrosis replacement of intervalvular fibrosa which extended to AMVL and resulted in restricted mitral valve annulus (12.4 mm) with subsequent restricted MV opening without significant mitral stenosis or regurgitation. These data were in favor of congenital hypoplastic MV annulus.

 Hypoplastic AMVL with restricted mitral valve annulus is a rare cause of mitral valve malformation and could be well tolerated since adulthood with good prognosis.

In patients with congenital pubic diastasis, who present with polytrauma injury, pubic diastasis could be falsely attributed to the traumatic event. This generally occurs in asymptomatic patients whose anomaly is not diagnosed before the traumatic event. In this report, we present a case of a 26 -year-old male with fracture-dislocation of the left hip and congenital agenesis of pubic bones that was initially misdiagnosed as post-traumatic pubic diastasis due to the patient’s reduced consciousness. A closer examination led to noticing his micropenis and the scar from the earlier surgical intervention, and thereby, suspicion of the congenital etiology of the pubic diastasis, later confirmed by pre -trauma radiography. This case reveals that the congenital etiology of pubic diastasis could be missed owing to the patient’s reduced consciousness. Therefore, a full inspection of the etiology of pelvic ring injury is necessary before conducting any surgical intervention.  Level of evidence: IV

The causes of intractable diarrhoea in infancy are varied, and can be classified into enteropathic and non-enteropathic groups. Congenital tufting enteropathy (CTE) is a rare cause of enteropathic form of intractable diarrhoea in infants requiring nutritional supplementation. We herein report a case of CTE in a one-year-old female child who presented with recurrent abdominal distension, frequent watery diarrhoea and marked stunted growth soon after birth. A systematic clinical, laboratory and pathological evaluation brought out the etiology, followed by genotypic confirmation. Histological examination revealed mild villous abnormality with presence of epithelial tufts both in the villous and crypt surface, in the duodenum and rectal biopsies supported by complete loss of MOC31 staining. Deep sequencing revealed homozygous 3’ splice mutation at intron 5 of the EPCAM gene (c.556-14A>G). She was given TPN support and discharged with weight gain under home-based parenteral nutrition supplement. This case brings out the need for a multidisciplinary team approach to reveal underlying the cause of infantile intractable diarrhoea and report a favorable outcome with nutritional supplementation.

Gestational diabetes leads to various complications for the fetus, including heart abnormalities, and injuries during childbirth. This study aimed to investigate the changes of electrocardiogram (ECG), and echocardiography parameters in infants of diabetic mothers compared with those of healthy mothers.

In this case-control study, 75 infants of mothers with controlled diabetes (case group) as well as 75 infants of healthy mothers (control group), who were born in Birjand Vali-e-Asr Hospital in 2021 were enrolled. ECG and echocardiography were performed for all infants, and the desired parameters (P, QT interval, QTd, QTc, QTcd, T, Tpe, heart rate (HR) as well as ejection fraction (EF), fractional shortening (FS), and IVSd) were measured.

The average QT interval and QTc parameters in the group of infants of diabetic mothers were higher than the healthy group (P≤0.01), while the average QTd in the infants of healthy mothers was higher than the infants of diabetic mothers (P=0.01). Furthermore, the average IVSd in the case group was higher than the control group (P=0.01). However, no differences in P, QTcd, T, TPe, HR, FS, EF, and heart axis parameters between the two groups were found (P>0.05).

In conclusion, significant differences between the infants of healthy mothers and those with gestational diabetes regarding the parameters of QT interval, QTd, QTc, and IVSd were found. However, no differences in P, QTcd, T, TPe, HR, FS, EF, and heart axis parameters between the two groups were found. Therefore, it is a clinical necessity to examine and screen the infants of diabetic mothers via ECG and echocardiography.