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As Wharton's jelly-derived mesenchymal stem cells (WJ-MSCs) are easily accessible, easy to isolate, and ethically acceptable, they represent a promising source of MSCs for use in regenerative medicine. Considering decisions on WJ-MSCs collection requires extensive knowledge of the factors that impact their yield. This study's aim was to evaluate the influence of parameters related to mothers and newborns on the WJ-MSCs yield. The WJ-MSCs were isolated and expanded after being isolated from 79 umbilical cord (UC) samples. Population doubling time and cell proliferation were assessed. By flow cytometry analysis, WJ-MSCs were identified by positivity of CD105, CD90, and CD73 and negativity of CD45 and CD34. There was a statistically significant negative correlation between UC width and P1 doubling time. Maternal age and WJ-MSC yield were shown to be negatively correlated. Birth weight and gestational age showed a significant positive correlation between WJ-MSCs yield and neonatal variables. No significant correlations were detected between the WJ-MSCs and the mother parity, nor the neonatal sex, fetal presentation, or head circumference. The WJ-MSCs yield increases with younger maternal age, higher gestational age, and increased neonatal birth weight. Hence, consideration should be given to these factors when selecting the ideal donors.

Down syndrome is the most common chromosomal disorder in humans. Hearing impairment is a common feature of Down syndrome. To assess the prevalence of hearing impairment in children with DS attending the Mansoura University Children’s Hospital. The study is a descriptive cross-sectional study on 170 pediatric patients with genetically confirmed DS. Patients were recruited from the genetic outpatient clinic of the Mansoura University Children’s Hospital from October 2021 to October 2022. All infants and children were subjected to full history taking, and a lateral X-ray on the nasopharynx with open mouth and extended neck. The ears were examined and cleared from accumulated cerumen if present. The presence of middle ear pathology was assessed through an otoscopic examination of the tympanic membrane. Eustachian tube dysfunction and otitis media with effusion (OME) were assessed using tympanometry. Appropriate hearing tests including pure tone audiometry (PTA) and auditory brain stem response (ABR) were used. Conductive hearing loss (CHL) was observed in 48.8% of studied children with DS and 4.1% had sensorineural hearing loss (SNHL). Among patients with hearing impairment, 86.5% had bilateral affection. The severity of hearing loss was mild in 59.1% of patients with CHL and 71.4% with SNHL. Of the patients with CHL, HL remained stationary in 45.8%, regressed from moderate to mild HL in 15.7%, and normalized in 38.6%. SNHL was permanent in all 7 affected patients with a stationary course in 4 and a progressive nature in 3. OME, upper respiratory tract infections (URTI), and adenoid enlargement were commonly associated with CHL in infants and children with DS. Most children with DS have bilateral and mild hearing loss. HL is mostly conductive. Otitis media with effusion, adenoid enlargement, and recurrent upper RTI are common in patients with conductive hearing loss. Hearing assessment should be considered in all infants and children with Down syndrome.

A promising alternative to bone marrow in hematopoietic stem cell transplantation is umbilical cord blood (UCB). Major barrier to its use in transplantation is stem cell quantity and quality. It is crucial to determine the variables impacting the quality of these cells for bankability. The study aimed to investigate the impact of neonatal factors on UCB units. A total of 150 UCB units that were collected during the caesarean section were included in the study. The sex, birth order, gestational age, birth weight, chest circumference, head circumference, and Apgar score of the newborns were recorded after delivery. The cord blood volume was calculated. The numbers of CD34 + cells and total nucleated cells (TNCs) were determined. Univariate analysis revealed that larger babies, heavier placental weights, increased head and chest circumferences, and longer umbilical cords were associated with greater volumes of cord blood and higher CD34 + and TNC cell counts. A greater UCB volume and a higher CD34 + cell count was associated with a longer gestational duration. To determine the primary selection criteria and estimate the yield, a multivariate linear regression analysis was used. Heavier placentas had higher TNC and CD34 + cell counts and greater cord blood volumes. Larger babies gave UCB units with increased volume. Longer gestational-age newborns had a higher CD34 + cell count in their UCB unit. Our findings suggest that placental weight is the key predictive variable influencing the quantity and quality of UCB units, which is essential for successful cord blood transplantation and bankability.

Background Stem cell banking and donation hold great potential for the management of many diseases. The collection and banking of umbilical cord stem cells are essential for advancing and promoting stem cell-based therapy. At the heart of this promising field lies a crucial factor: the knowledge, attitudes, and perceptions of mothers toward stem cell donation and banking. Assessing how mothers perceive and engage with the concept of donating stem cells is pivotal in enhancing donation rates and ultimately saving lives. This study aims to assess expectant mothers’ knowledge, attitudes and perceptions with respect to umbilical cord blood (UCB) donation and banking. Methods This cross-sectional study was conducted among pregnant women attending antenatal care clinics. The semistructured questionnaire includes sociodemographics data and information about mothers’ knowledge, attitudes and perceptions about stem cell donation and banking. The Cronbach’s alpha coefficient approach was used to determine the reliability of the questionnaire. Results The study enrolled a total of 508 pregnant women with a mean age of 29.88 ± 6.10 years. The total score of knowledge was 4.34±6.10, ranging from 0 to 20, and 81.9% of them had poor knowledge. There was a significant association between the educational levels of the participants and their knowledge scores. The total attitude score was 11.45±2.60, and 49.6% of them had positive attitudes. The total score of the participants’ perceptions of cord blood banking was 8.13±9.84, and only 13.4% had high perceptions, while most of them (86.6%) had low perceptions. Mothers’ knowledge was strongly positively correlated with their attitudes ( r  =.260, P  =.0031) and perceptions ( r  =.249, P  =.0047) about cord blood banking. Conclusion Most pregnant participants had poor knowledge, neutral attitudes and low perceptions about umbilical cord blood banking. Knowledge and attitudes are significantly correlated. Hence, implementing educational programs to increase knowledge and awareness of cord blood banking is crucial to empower mothers to share a pivotal role in the noble endeavor of saving lives through stem cell donation.

Phenylketonuria is the most common heritable metabolic disorder. Early detection through newborn screening and proper nutritional management are essential for preventing neurodevelopmental complications. This study aims to describe the epidemiological profile of PKU in Egypt, assess the impact of early diagnosis, and examine the relationship between dietary adherence and comorbidities, including developmental and growth impairment. This is a multicenter retrospective cross-sectional study conducted in four university hospitals in Egypt between January 2024 and January 2025. A total of 365 patients with PKU aged 0–18 years were included. Data on demographics, phenotype classification, complications, and diet adherence were collected. We found that the most common PKU phenotype was classic PKU (36.3%). Early diagnosis through NBS was reported in 67.7%, and dietary adherence in 79.5%. Developmental delay was significantly lower in early-diagnosed children (3.2%) than in late-diagnosed children (100%). BH4 deficiency (1.6%) was associated with developmental delay and epilepsy despite early diagnosis. Diet adherence was linked to lower phenylalanine levels and fewer complications. Neurodevelopmental problems in PKU were decreased by the national NBS program. Better results depend on early diagnosis, diet adherence, and awareness of BH4 deficiency. Diet non-adherence not only worsens neurodevelopmental outcomes but also negatively affects growth parameters in these children.

Background/Objectives: Neonatal respiratory distress syndrome (NRDS) is a heterogenous respiratory illness that mainly affects preterm neonates. It is characterized by insufficient production of pulmonary surfactant and impaired lung compliance. The lysophosphatidylcholine acyltransferase 1 (LPCAT1) enzyme has a crucial function in lipid remodeling through the conversion of lysophosphatidylcholine to phosphatidylcholine, the major component of pulmonary surfactant. In this research, we aimed to investigate the association of the LPCAT1*rs9728 variant with NRDS susceptibility using hereditary analysis and bioinformatic approaches. Methods: The LPCAT1 (rs9728; c.*1668T>C) variant was characterized among 100 preterm neonates with RDS and 100 non-RDS neonates utilizing the TaqMan SNP genotyping assay. Logistic regression analysis was performed to identify the risk factors of respiratory distress syndrome. The functional mechanism of the LPCAT1 gene was elucidated using bioinformatic approaches. Results: The LPCAT1*rs9728 C/C genotype was significantly associated with a 78% reduced risk of NRDS (OR = 0.22, p = 0.027), although the minor C allele did not attain a significant finding (OR = 0.83, p = 0.416). Apgar score and Silverman–Andersen respiratory severity score (RSS) were statistically significant with prematurity classes (p < 0.05). Additionally, gestational age and birth weight were considered independent risk factors in the progression of RDS among preterm neonates. Conclusions: This research exhibited a significant difference between the LPCAT1 (rs9728; c.*1668T>C) variant and reduced risk against the development of RDS among preterm neonates. The rs9728*C/C genotype revealed a significant association with decreased risk of NRDS compared to non-RDS neonates.

Purpose The GABRG2 gene polymorphisms C588T and 3145G>A could be predictive genetic markers that trigger idiopathic generalized epilepsy (IGE) or predict pharmaco-resistance to antiseizure medications (ASMs). Methods This case‒control study enrolled 85 children, including 34 patients with IGE who were responsive to ASMs (responsive group), 30 patients with IGE who were resistant to ASMs (resistant group), and 21 healthy children (control group). All participants were assessed for the GABRG2 C588T and GABRG2 3145G>A gene polymorphisms via polymerase chain reaction (PCR). Results The CC genotype of the GABRG2 polymorphism was the most commonly reported genotype. The CT and TT genotypes were more frequently associated with epileptic patients than with controls. The T allele and the T-included genotypes were more common among epileptic patients than controls. Regarding the GABRG2 _3145G>A polymorphism, the AG genotype was the most frequent among the study groups. The GG phenotype was more common among epileptic children than in controls. The G allele and G-included genotypes were significantly associated with epilepsy ( p  = 0.02), with a 3.2-fold higher risk of occurrence of epilepsy for the G allele carriers. A statistically insignificant difference in the distribution of different genotypes and C & T alleles of the GABRG2 C588T polymorphism was detected between the ASMs-responsive and the ASMs-resistant subgroups. However, the TT genotype was more common in the ASMs-resistant subgroup (10% vs. 3%). The GABRG2 _3145G>A polymorphism appeared to be a prognostic determinant of ASMs responsiveness; the GG genotype was significantly associated with poor control of seizure activity (47% vs. 24%, p  = 0.05). The G-included genotypes were significantly associated with ASMs resistance (76% vs. 53%, p  = 0.05). Conclusions The T allele and TT genotype of the GABRG2 C588T gene were more common among patients with IGE, whereas the G allele and the GG genotype of the GABRG2 3145G>A gene may be significant predictors of ASMs resistance among IGE patients. Results validation in larger, multi-center studies across diverse populations is recommended.

Takayasu arteritis (TA) is a rare, chronic inflammatory disease that primarily affects large arteries, and in childhood (c-TA), it often presents with diverse and delayed manifestations that complicate diagnosis. We describe 2 pediatric cases that highlight the importance of early recognition and intervention. The first was a 3-month-old girl who presented with fever, respiratory distress, and peripheral cyanosis. Laboratory investigations revealed leukocytosis, anemia, elevated inflammatory markers, and hypercoagulability, while Doppler ultrasound and computed tomography angiography (CTA) demonstrated extensive vascular involvement with arterial occlusions and aneurysms. She was diagnosed with c-TA based on the American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) criteria and responded favorably to high-dose corticosteroids, infliximab, methotrexate, and antiplatelet therapy. The second case was a 17-year-old female with a history of hypertensive encephalopathy who presented with chest pain, arm numbness, and exertional dyspnea. Examination showed absent pulses and significant blood pressure discrepancies in the upper limbs, while laboratory tests revealed elevated erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and positive antinuclear antibody (ANA). The CTA confirmed severe stenosis and occlusions in multiple arteries, fulfilling the diagnostic criteria for TA. Despite treatment with sarilumab, corticosteroids, methotrexate, and antiplatelet therapy, she continued to experience symptoms and required further intervention. These cases underscore the need to consider TA in pediatric patients with hypertension, absent or diminished pulses, blood pressure discrepancies, limb claudication, chest pain, or unexplained systemic inflammatory symptoms. Early recognition and aggressive immunosuppressive therapy are essential to prevent irreversible vascular damage and improve long-term outcomes.

Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility. We estimated the cytogenetic profiles and semen analysis patterns among infertile couples. We analyzed data from medical archives of 2150 patients with infertility in Mansoura University Children's Hospital, Egypt from 2015 to 2019. The data included karyotypes and semen analysis reports. Chromosomal abnormalities were reported in 13.5% of infertile patients (290/2150); 150 out of 1290 (11.62%) males and 140 out of 860 (16.28%) females. Within the infertile males, the numerical chromosomal abnormalities were detected in 134/1290 (10.38%) males, and structural abnormalities were found in 16/1290 (1.24%) males. Within the infertile females, numerical sex chromosome abnormalities were detected in 75/860 (8.72%) females, structural sex chromosome abnormalities were found in 31/860 (3.6%) females, mosaicism of the sex chromosome was found in 22/860 (2.56%) females, and male pseudohermaphrodites were detected in 12/860 (1.39%) females. Numerical chromosomal aberrations are the most frequent patterns among infertile couples. Attention should be paid to the traditional chromosomal analysis as an important diagnostic step in the infertility work-up.

Background Feeding and eating disorders are major factors in nutrition problems. Mothers have a big role in shaping feeding and eating behaviors. This study aimed at estimating the prevalence of feeding and eating disorders among children in pediatric outpatient clinics (6–12 years old) and comparing personality factors among mothers of children with feeding and eating disorders versus those without feeding and eating disorders. Results This study included 528 children who were screened for feeding and eating disorders using the DSM-5. For the detected children, their mothers’ personalities were assessed using Cattell’s 16 personality factor test after history was taken using a child psychiatric sheet. The resulting prevalence of feeding and eating disorders is 13%, and the major mother’s personality factor that contributed is the control factor. Conclusions Certain personality factors of the studied mothers (controlled, tender-minded, imaginative, forthright, and apprehensive) correlate with the prevalence of feeding and eating disorders among their children, compared with those without feeding and eating disorders. Mothers’ personalities should be assessed in children with feeding and eating disorders, especially when these factors seem likely.