congenital

Toxoplasma gondii transmission can occur during pregnancy if the mother contracts the infection for the first time. Treatment strategies include the use of antimicrobial medications and providing supportive care. Spiramycin is commonly used to treat toxoplasmosis in pregnant women and to hinder the disease's transmission. However, its ability to treat the fetus is questionable due to its limited capacity to cross the placental barrier. Additionally, economic constraints and sanctions may impede access to this medication.

Consequently, in search of an effective treatment, for the first time in Iran, the effectiveness of clindamycin in preventing abortion and vertical transmission of the PRU strain of T. gondii infection in pregnant mice was evaluated.

On the twelfth day of gestation, pregnant mice were exposed to T. gondii and subsequently received treatment with either clindamycin or spiramycin. This resulted in the establishment of four distinct groups: A normal control group, an infected group without treatment, an infected group treated with clindamycin, and another infected group treated with spiramycin. Following these interventions, a series of parasitological evaluations (including microscopic examination and realtime PCR), histopathological evaluations, and immunological assessments were conducted.

The findings showed a significant reduction in the number of cysts in the eye and brain (ranging from 77.32% to 90.72%) among the groups treated with clindamycin and spiramycin compared to the control group. Furthermore, treatment with clindamycin, like treatment with spiramycin, was able to suppress inflammatory changes, prevent cell death, and reduce vascular cuffs in the brain, as well as decrease bleeding, placental thrombosis, and the accumulation of inflammatory cells in the placenta. Clindamycin was also effective in diminishing retinal folds, tiny retinal bleeds, and cell vacuolation in eye tissues. Immunologically, treatment in both the spiramycin and clindamycin groups resulted in a decrease in the level of the cytokine TNF-α, indicating an increase in the cellular immune response. In addition, increased levels of IL-10 in the treated infected groups could contribute to the reduction of TNF-α production.

Typically, spiramycin is the first choice for treating congenital toxoplasmosis, but clindamycin can be a useful substitute or additional treatment when resistance to primary medications occurs, when there is intolerance, or when access to the main drugs is restricted.

The aim of this study was to describe the clinical profile of children admitted to a pediatric intensive care unit (PICU) in Southeast Brazil and to analyze predictive factors associated with mortality. A retrospective cross-sectional study was conducted over a 24 month (August 2018–2020), including 562 patients aged 1 month to 18 years admitted to the PICU. Patients were categorized into two groups: cardiac and non-cardiac diseases. Mann-Whitney U, Fisher’s exact test, and logistic regression were used for group comparisons, with a significance level set at 5%. The median age of the patients was 31 months (interquartile range 9-108), with 53.9% being male. Surgical interventions predominated (51.2%), primarily for congenital heart diseases (38.8%). Other frequent causes of admission included respiratory disease (19%) and sepsis (14.1%). Children with cardiac diseases had a higher incidence of mechanical ventilation (66.5% vs. 48%, p<0.001) and vasoactive drug use (57.3% vs. 24.7%, p<0.001). However, they had shorter durations of invasive ventilation (1 vs. 5 days, p<0.001) and vasoactive drug use (2 vs. 3 days, p=0.032) compared to non-cardiac patients. A total of 38 patients (6.8%) died, with a higher mortality rate observed among those with non-cardiac diseases (9% vs. 3.2%, p=0.009). Non-cardiac patients had higher mortality rates and longer durations of invasive mechanical ventilation and vasoactive drug use. Cardiac disease patients experienced more favorable clinical outcomes in this study population.

Data on congenital heart diseases in neonates, especially critical congenital heart disease, varies worldwide. Developing countries have higher mortality than developed countries. To study the clinical profile of congenital heart diseases in neonates. Prospective observational study. Neonates admitted to a tertiary care hospital with congenital heart disease. Clinical details, investigations, and management of neonates admitted to a tertiary care hospital were studied prospectively. Among the study neonates, 60% had acyanotic heart disease, the most common being ASD, while 40% had cyanotic heart disease, the most common being TGA—outborn cases comprised 60% of the total neonates. The most common presenting features were fast breathing and cyanosis; the most common clinical sign was murmur(59%). Among the study neonates, 15 cases had low calcium levels. Definitive surgery was done in 21 neonates, of which 7 succumbed. The staged repair was done in 9 neonates, of which 2 succumbed. Of 12 TGA cases,10 underwent definitive repair, and 7 did well at follow-up. Among the 10 TOF babies, 6 underwent staged repair. Out of the 7 cases of CoA, 6 underwent definitive surgery, and 1 expired. Among Critical CHD, mortality was 23.3%. The most common cyanotic heart disease was ASD, and the most common cyanotic heart disease was TGA. Surgery was done in 30 cases, out of which 9 succumbed, and mortality among surgical cases was 30%. At follow up TGA  cases with definitive surgeries were doing well. Mortality was lower compared to other studies in India. Hypocalcemia was observed in 16.6% of the CHD cases, which needs to be studied in the future.

The primary caregivers of children with congenital heart disease (CHD) after cardiac surgery at home are often their mothers. Therefore, the quality of life (QoL) and treatment adherence (TA) of mothers are crucial for the prognosis of these children. This study evaluated the impact of a mobile educational application on the QoL and TA in mothers of children with CHD undergoing cardiac surgery.

This randomized clinical trial was conducted on 72 mothers of children with CHD referred for cardiac surgery to Children’s Medical Center Hospital, Tehran, Iran, from September 2023 to May 2024. Mothers were randomly assigned to intervention (n=36) and control (n=36) groups. The intervention group received the educational app upon discharge and used it for four weeks, while the control group received standard discharge education, which consisted of face-to-face education. Data were collected using a demographic form, the 36-Item Short Form Health Survey (SF-36), and the Modanloo Treatment Adherence Questionnaire at baseline and one month post-intervention. Data were analyzed using SPSS software version 26, with independent t-test, chi-square, and analysis of covariance. A significance level of P<0.05 was considered.

At baseline, no significant differences were observed between the two groups in total score of QoL (P=0.18) and TA (P=0.70). One month post-intervention, the intervention group showed significantly higher total scores in QoL (P<0.001) and TA (P<0.001) compared to the control group.

Using mobile applications in home care education can significantly enhance the QoL and TA in mothers of children with CHD after surgery.Trial Registration Number: IRCT20230816059164N1.

Congenital heart disease (CHD), which accounts for about one-third of all congenital birth defects and affects about 1% of all live births worldwide, has had a stable incidence rate and decreased mortality rate since 1990. Despite advances in fetal cardiac ultrasound examinations and routine pulse oximetry screening of newborns, a considerable proportion of patients with CHD may still be missed until adulthood, leading to major morbidity and mortality due to physical limitations and reduced quality of life.We herein describe a 29-year-old woman who was mistaken as an inoperable case of CHD and referred to our center with palpitation and exertional dyspnea. During workups, she was diagnosed with severe pulmonary hypertension associated with patent ductus arteriosus (PDA), pre-ductal aortic coarctation, ventricular septal defect (VSD), and bicuspid aortic valve, all of which had been missed from infancy. After initial medical treatment for pulmonary hypertension, a simultaneous transcatheter approach was selected, whereby the PDA was closed with an occluder device, and the coarctation was repaired simultaneously with a self-expanding stent. Eight months later, her VSD was closed successfully via an interventional technique using a muscular VSD occluder device.This case highlights the significance of adult CHD fellowship training. A cardiologist specialized in this field was able to properly diagnose and treat an adult with complex CHD, which had been overlooked since infancy. As a result, the patient experienced complete relief from her symptoms and was saved from developing Eisenmenger syndrome.

Surgery for children with congenital heart disease (CHD) elevates maternal physical and mental stress, potentially impacting the quality of care provided to the child.

This study aimed to elucidate mothers' experiences surrounding their child's CHD surgery.

In this qualitative content analysis study, we included 20 mothers of children admitted to Tehran Children's Medical Center Hospital for CHD surgery using purposive sampling. Unstructured interviews and field notes were utilized perioperatively for data collection. Analysis was conducted concurrently with data collection employing the Graneheim and Lundman content analysis approach. Rigor was ensured using Lincoln and Guba’s criteria.

The findings were categorized into four themes: (1) "The Bitter and Difficult Motherhood Experience" stemming from the shock of the child's abnormality and subsequent challenges in caregiving; (2) mothers engaged in "In Search of Reassurance," striving for accurate diagnosis and optimal treatment quality through information seeking and accessing superior medical services; (3) "Tides in Supportive Networks" reflected varying degrees of support from personnel, peers, and surrounding individuals, ranging from conscientiousness to stressfulness; (4) Mothers attained a state of "Relative Calm After the Storm" by navigating through the surgery or deal with spirituality and hope despite enduring anxieties.

The journey through a child's CHD surgery proved harrowing for mothers due to the initial shock and ongoing caregiving challenges. Care provision should prioritize maternal readiness and empowerment, emphasize professional conduct, reassurance, spiritual care, and steer social support networks toward positive contributions.

Congenital agenesis of columella is an abnormality extremely rare. Only five cases have been reported in the literature to 1999, a fifth case accompanying a facial haemangioma was presented in 2004, and a seventh case was described in 2019, the etiology is still unclear.

We present a case of congenital aplasia of the nasal columella. The patient is a 5-month-old female infant, and we show that this rare malformation has not only aesthetic, but also serious functional repercussions, which may necessitate early surgical intervention. We also highlight the incidental discovery on Tomodensitometry of the face and petrosal bone, of an associated atresia of the external auditory canal not evident at the clinical examination, an association never reported, or perhaps not sought in the observations hitherto available.

The association observed in this case report with an atresia of the external auditory canal shows the importance of requesting tomodensitometry of the face and petrosal bone, in similar cases.

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.

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.

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.

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.