UNASSIGNED: Urethroplasty is the preferred treatment for hypospadias but is affected by the severity of anomalies, making it a complex procedure with potential postoperative complications. Following surgery, parents receive instructions and recommendations, whether from nurses or physicians, regardless of complication rates. However, nurses play a crucial role in educating caregivers before surgery and providing postoperative care during follow-up. The study aims to assess parents\' knowledge and practices, as well as the frequency of complications in boys who underwent urethroplasty for hypospadias and received postoperative nurse-led care and whose parents received preoperative education against those of boys who underwent urethroplasty under routine hospital care.
UNASSIGNED: In this retrospective study, Han Chinese boys aged 21-41 months in Western China who underwent urethroplasty for hypospadias were divided into two groups: the NI cohort (n = 103), where they received postoperative nurse-led care and their parents received preoperative education, and the RH cohort (n = 142), where boys underwent routine hospital care.
UNASSIGNED: After urethroplasty, higher numbers of caregivers with satisfactory knowledge (96 (93%) vs. 80 (56%), p < 0.0001) and practice (102 (99%) vs. 132 (93%), p = 0.0276) were reported in the NI cohort compared to the RH cohort. Additionally, a higher number of boys in the RH cohort experienced adverse effects such as moderate bleeding (13 (9%) vs. 1 (1%), p = 0.0052), wound infection (17 (12%) vs. 4 (4%), p = 0.0356), urinary obstruction (35 (25%) vs. 10 (10%), p = 0.0049), burning sensation (47 (33%) vs. 15 (15%), p = 0.0019), and urinary stent fall (32 (23%) vs. 6 (6%), p = 0.0008) compared to those in the NI cohort.
UNASSIGNED: Preoperative instructions enhance caregivers\' knowledge and practices following urethroplasty, while postoperative nurse-led care reduces immediate postoperative complications associated with hypospadias in boys.

UNASSIGNED: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients\' early childhood years.
UNASSIGNED: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables.
UNASSIGNED: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.
UNASSIGNED: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

At present, safety of letrozole administration as an ovulation-inducing drug still remains controversial. Investigation of the safety of letrozole use for the induction of ovulation in the Chinese population is scant. The present study aimed to fill this gap. Data concerning mothers using letrozole and birth outcomes of their singleton offspring were collected as the letrozole group (n=194), equivalent data from mothers using non-letrozole drugs and their singleton offspring were included as the non-letrozole group (control, n=154). Birth outcomes, congenital anomalies and neonatal complications were compared and analyzed between the two groups. Univariate analysis, Spearman\'s rank correlation analysis and the logistic regression model were utilized. For birth outcomes, the percentage of caesarean section deliveries in the letrozole group was lower than the non-letrozole group (43.8 vs. 56.4%, P=0.019). For congenital anomalies, no significant difference was found between the two groups (all P>0.05). The statistical P-value for the correlation between the maternal use of letrozole and neonatal complications was marginal (P=0.051). Results from the logistic regression analysis confirmed that maternal use of letrozole was not a significant contributor for neonatal complications, independent of statistical adjustment [crude odds ratio (OR), 1.436; 95% confidence interval (CI), 0.803-2.569; P=0.223 vs. adjusted OR, 1.406; 95% CI, 0.748-2.643; P=0.290). The results of the present study suggested that maternal use of letrozole for ovulation induction does not associate with poorer birth outcomes or increased risk of congenital anomalies and neonatal complications.

BACKGROUND: The gonadotropin hormone-releasing hormone agonists (GnRH-a) have been widely used for controlled ovarian stimulation in assisted reproductive technology (ART). The early-follicular long-acting GnRH-a long protocol (EFL) and the luteal phase short-acting GnRH-a long protocol (LPS) are commonly used GnRH agonist protocols. We conducted a retrospective analysis to assess and compare the rates of congenital abnormalities and safety profiles in offspring born from the EFL and LPS protocols.
METHODS: We conducted a retrospective cohort study to analyze and compare neonatal data from patients who using EFL or LPS protocols at our center between January 1, 2014, and June 30, 2017. The study ultimately included 1810 neonates from 1401 cycles using the EFL protocol and 2700 neonates from 2129 cycles using the LPS protocol.The main outcome measures are gestational age at delivery, birth weight, and congenital anomaly rate.To assess the influence of various factors on congenital abnormalities, a random-effects logistic regression model was employed.
RESULTS: The EFL and LPS protocols led to similar congenital anomaly rates (1.64% vs. 2.35%, P = 0.149). No significant differences were found between the two groups regarding birth weight and its categories, newborn gender and congenital anomaly rate. The results of the multivariate logistic regression model indicated no association between congenital anomaly and BMI, duration of infertility, treatment protocol, fertilization method, or embryo transfer stage. Compared with singleton pregnancies, the probability of congenital defects in multiple pregnancies was 2.64 times higher (OR: 2.64, 95% CI: 1.72-4.05, P < 0.0001). Newborns with congenital defects were born with a lower gestational age compared with full-term pregnancies.
CONCLUSIONS: In conclusion, the EFL protocol is considered a safe option for ensuring offspring safety, comparable with the LPS protocol; however, multiple pregnancies represent an independent risk factor for congenital abnormalities. This approach can be widely adopted; however, prioritizing single embryo transfers is strongly recommended to minimize the potential risks associated with multiple pregnancies in offspring.

UNASSIGNED: Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies.
UNASSIGNED: Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors.
UNASSIGNED: Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58-4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52-3.7, p-value < 0.01).
UNASSIGNED: High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions.

OBJECTIVE: Over 8 million newborns worldwide have congenital anomalies; 3.2 million have resultant disabilities. Ethiopia has a high burden of neonatal congenital anomalies, but research on predictors is limited. This study investigated predictors of neonatal congenital anomalies in eastern Ethiopia.
METHODS: A facility-based unmatched case-control study on 387 mother-infant pairs (129 cases, 258 controls) in public hospitals was conducted. Data were obtained using an interviewer-administered structured questionnaire and a medical record review. Binary logistic regression with adjusted odds ratios (AOR) and 95% confidence intervals (CI) was used to identify predictors of congenital anomaly.
RESULTS: Nervous system anomalies were most common 84 (65.1%), followed by gastrointestinal system anomalies 20 (15.5%). Maternal anemia (AOR: 4.37, 95% CI: 2.48-7.69), alcohol consumption during index pregnancy (AOR: 4.01, 95% CI: 1.88-8.54), khat chewing (AOR: 1.73; 95% CI: 1.04-2.85), rural residence (AOR: 1.73, 95% CI: 1.04-2.85) and antenatal care attendance (AOR: 0.43, 95% CI: 0.22-0.84) were significant predictors of congenital anomaly.
CONCLUSIONS: Several risk factors for congenital anomalies were identified. To reduce risk, antenatal care services should be improved and mothers encouraged to avoid harmful substances during pregnancy and maintain a healthy lifestyle. Intervention strategies are needed to target these risk factors.

Household air pollution (HAP) from cooking with solid fuels used during pregnancy has been associated with adverse pregnancy outcomes. The Household Air Pollution Intervention Network (HAPIN) trial was a randomized controlled trial that assessed the impact of a liquefied petroleum gas (LPG) stove and fuel intervention on health in Guatemala, India, Peru, and Rwanda. Here we investigated the effects of the LPG stove and fuel intervention on stillbirth, congenital anomalies and neonatal mortality and characterized exposure-response relationships between personal exposures to fine particulate matter (PM2.5), black carbon (BC) and carbon monoxide (CO) and these outcomes. Pregnant women (18 to <35 years of age; gestation confirmed by ultrasound at 9 to <20 weeks) were randomly assigned to intervention or control arms. We monitored these fetal and neonatal outcomes and personal exposure to PM2.5, BC and CO three times during pregnancy, we conducted intention-to-treat (ITT) and exposure-response (E-R) analyses to determine if the HAPIN intervention and corresponding HAP exposure was associated with the risk of fetal/neonatal outcomes. A total of 3200 women (mean age 25.4 ± 4.4 years, mean gestational age at randomization 15.4 ± 3.1 weeks) were included in this analysis. Relative risks for stillbirth, congenital anomaly and neonatal mortality were 0.99 (0.60, 1.66), 0.92 (95 % CI 0.52, 1.61), and 0.99 (0.54, 1.85), respectively, among women in the intervention arm compared to controls in an ITT analysis. Higher mean personal exposures to PM2.5, CO and BC during pregnancy were associated with a higher, but statistically non-significant, incidence of adverse outcomes. The LPG stove and fuel intervention did not reduce the risk of these outcomes nor did we find evidence supporting an association between personal exposures to HAP and stillbirth, congenital anomalies and neonatal mortality.

We invited individuals aged above 16 years with a congenital transverse reduction deficiency at and above the wrist born in Norway between 1970 and 2006 to complete the short version of the Disabilities of the Arm, Shoulder and Hand Outcome Measure, the 5-Level EuroQoL-5-Dimension instrument, the RAND 36-Item Short Form Health Survey and a single-item questionnaire on arm function, appearance, pain and prosthesis wear. Of 154 eligible participants, 58 (38%) responded. Their scores were not different from the general population. All had been offered prostheses, and 56 (97%) had been fitted at a median age of 1 year (interquartile range 0-2.8). Of the participants, 37 (64%) were still prosthesis wearers, while 21 (36%) were non-wearers or using gripping devices only. Prosthesis wearers had higher levels of \'vitality\' as assessed by the RAND-36 and rated their arm appearance higher, but there were no other score differences, indicating that prosthesis rejection is not associated with worse functional outcomes.Level of evidence: III.

To investigate whether the induction-to-expulsion interval during second-trimester medication abortion in pregnancies complicated by anencephaly or other fetal anomalies is prolonged compared to pregnancies without fetal anomalies STUDY DESIGN: This was a retrospective cohort study of women who had second-trimester medication abortion at St. Paul\'s Hospital Millennium Medical College (Addis Ababa, Ethiopia). We assigned subjects to one of three groups based on fetal diagnosis: 1) anencephaly group, 2) other congenital anomaly group, and 3) no anomaly group. Data were collected by reviewing patients\' charts. We used SPSS version 23 to analyze the data. Simple descriptive analysis and χ2 test were performed as appropriate.
A total of 303 women had second-trimester medication at 14-28 weeks, of which 58 had anencephaly, 19 had congenital anomalies other than anencephaly, and the remaining 226 had no fetal anomalies. The mean induction-to-expulsion interval was 18.4 hours in the anencephaly group versus 19.4 hours in the other congenital anomaly group versus 19.2 hours in those without anomaly (p-value = 0.924). The 24-hour nonexpulsion rate was also comparable among the groups, with 5.25% rate of nonexpulsion in the anencephaly group versus 15.8% in the other congenital anomaly group versus 11.15% in the no anomaly group (p-value = 0.594). In multivariable regression analysis after controlling for parity, the 24-hour nonexpulsion rate was not significantly different.
In this study, pregnancies undergoing second-trimester medication abortion for fetal anomalies had comparable induction-to-expulsion interval and 24-hour expulsion rates compared to those who had the same procedure for other or no anomalies.
Second-trimester medication abortion procedure length in pregnancies complicated by anencephaly is similar to those pregnancies without anomalies.

OBJECTIVE: To enhance evidence-based knowledge on long-term sequalae in patients with surgically corrected obstructing Müllerian anomalies.
METHODS: This long-term case-control study included patients with menstrual outflow obstruction due to congenital anomalies of the uterus or vagina, who were at least 18 years old, and for whom 2 years had elapsed since the first surgery at the start of this study. The control group consisted of women without current gynecological problems. Patients underwent a surgical correction at the Radboud University Medical Center Nijmegen between 1980 and 2013. Of 78 patients approached, 38 (49%) were included in this study. The control group consisted of 54 females. The main outcome measures were pain and health state. The following questionnaires were used: Visual Analogue Scale pain scores, European Quality of Life-5 Dimensions questionnaire (EQ-5D-3L) and the adapted Endometriosis Health Profile questionnaire (EHP-30).
RESULTS: Patients had higher actual and maximum abdominal pain scores compared with controls (11 vs 0 [P = 0.007] and 48 vs 21 [P = 0.035], respectively). Based on the EQ-5D-3L scores, patients had more pain and discomfort (P = 0.005), more mood problems (P = 0.023), and a poorer subjective health state (P = 0.002) and self-rated health state (P = 0.031). Based on the EHP-30, patients had a significant poorer self-rated health state on four out of five subscales.
CONCLUSIONS: In this study, following surgically corrected menstrual obstruction, patients had statistically significant higher abdominal pain scores and a poorer self-rated health state compared with controls.