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.

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.

BACKGROUND: Isolated single coronary artery is a rare congenital anomaly. R-I subtype single coronary artery is even rarer. In this subtype, a very large right coronary artery extends in the coronary sulcus to the anterior base of the heart where it produces the left anterior descending coronary artery. Currently, only a few case reports are available in the literature for this anomaly.
METHODS: Here, we report the case of a 62-year-old woman who presented to the cardiology clinic with decreased exercise tolerance and poor blood pressure control. The patient underwent coronary angiography (CAG) and emission computed tomography (ECT). CAG images revealed a single gigantic right coronary artery (R-I type) arising from the right coronary sinus with branches supplying the left coronary territory. The ECT results confirmed myocardial ischemia at the location of the absent left coronary artery. The ECT findings confirmed that ischemia was consistent with the vascular loss location in CAG images. In such anomalies, there is a compensatory widening of the coronary artery lumen. Medical treatment was administered, and the patient was discharged.
CONCLUSIONS: Isolated single coronary arteries are associated with ischemia and potentially fatal acute coronary events. Hence, controlling risk factors is critical.

Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified.
Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient.
Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.

The objective of the study was to explore the impact of paternal age on the risk of congenital anomalies and birth outcomes in infants born in the USA between 2016 and 2021. This retrospective cohort study used data from the National Vital Statistics System (NVSS) database, a data set containing information on live birth in the USA between 2016 and 2021. Newborns were divided into four groups based on their paternal age (< 25, 25-34, 35-44, and > 44 years) and using the 25-34 age group as a reference. The primary outcomes were congenital anomalies involving structural anomalies and chromosome anomalies. Secondary outcomes were preterm birth, low birth weight, severe neonatal perinatal asphyxia, and admission to neonatal intensive care units (NICU). A multivariable logistic regression model was used to analyze the association between paternal age and outcomes. Overall, 17,764,695 live births were included in the final analyses. After adjusting confounding factors, advanced paternal age > 44 years was associated with increased odds of congenital anomalies (adjusted odds ratio (aOR) = 1.17, 95%CI 1.12-1.21) compared with the 25-34 age group, mainly for the chromosomal anomalies (aOR = 1.59, 95%CI 1.40-1.78) but not the structure anomalies (aOR = 1.03, 95%CI 0.97-1.09). The risk of preterm delivery, low birth weight, and NICU hospitalization in their infants was increased by advanced parental age as well.  Conclusion: Advanced paternal age increases the risk of congenital anomalies, especially chromosomal anomalies in their offspring, implying prenatal genetic counseling is required. What is Known: • There\'s a rising trend of advanced paternal age, which is associated with an increased likelihood of premature birth and low birth weight in their offspring. However, the exploration between paternal age and congenital abnormalities in offspring was limited and contradictory. What is New: • Infants with a paternal age > 44 years were more likely to be born with congenital anomalies, especially chromosomal anomalies.

Despite a number of surgical procedures for the reconstruction of moderate to severe constricted ears described in the literature, a most cost-effective method remains to be explored. It is still a challenge to maximize the full use of the ear cartilage and surrounding skin while achieving the best results.
From 2011 to 2016, seven constricted ear patients were enrolled in this study. Five of them were moderate (type IIB Tanzer classification) deformities, and two were severe (type III Tanzer classification). All constricted ear patients were treated with bilateral cartilage flaps bridging and the V-Y advancement flap from preauricular skin, with the option of inserting a conchal cartilage graft if additional stability was required. Mean follow-up period was 4.0 ± 3.5years.
All patients were satisfied with significant increase in the height of the constricted ears, also with the reconstruction of scapha and antihelix. The surgical scar was not obvious. No complications were observed. Long-term follow-up period revealed that the reconstructive procedure produced the long-lasting cosmetic results.
Combination of bilateral cartilage flaps bridging with V-Y advancement of preauricular flap can make full use of its deformed tissue and surrounding skin. The method is effective and reliable in the reconstruction of moderate and some severe constricted ears.

The aim of the study was to present the intraoperative findings of the relevant digital nerves of the duplicated thumbs in an excision and reconstruction procedure for the Wassel-Flatt type Ⅳ radial polydactyly.
The study was conducted on patients with Wassel-Flatt type IV radial polydactyly who underwent excision and reconstruction between 2018 and 2021 at our institution. The ulnar digital nerve of the radial thumb and the radial digital nerve of the ulnar thumb were identified and traced intraoperatively. The level of the bifurcation of the nerves and abnormal findings were documented.
A total of 123 hands in 119 patients were included in this study. In 114 hands, the bifurcation of the nerves was located within 1 cm of the metacarpophalangeal flexion crease. The radial digital nerve to the ulnar thumb was abnormally compressed in deep fascial tissue in 7 of these 114 hands. In 5 hands, the level of bifurcation was more than 1 cm proximal to the crease. No radial digital nerve to the ulnar thumb was identified in the remaining 4 hands.
Although rare, abnormal nerve compression of the digital nerve may exist in duplicated thumbs of Wassel-Flatt type IV radial polydactyly.
In an excision and reconstruction procedure, we suggest that the bifurcation of the nerves should be identified before the nerve to the radial thumb is excised to avoid injuring the nerve to the main ulnar thumb.

Selective serotonin-noradrenalin reuptake inhibitors (SNRIs) are used to treat depression and anxiety during pregnancy; however, information regarding their foetal safety is limited. Cohort studies concerning congenital malformations in infants born to mothers exposed to SNRIs during the first trimester of pregnancy were identified. Eight studies were included in the analysis. In general, the use of SNRIs was not associated with an increased risk of overall congenital malformations when compared with no exposure (rate ratio [RR] = 1.07, 95% confidence interval [CI] = 0.94-1.22; P = 0.31), exposure to SSRIs (RR = 1.12, 95% CI = 0.97-1.31; P = 0.12) and no exposure with clinical indication (RR = 1.04, 95% CI = 0.9-1.2; P = 0.564). A significantly increased risk of cardiac malformations was observed (RR = 1.33, 95% CI = 1.15-1.53; P < 0.001); however, this association was not statistically significant when the reference group comprised mothers exposed to SSRIs (RR = 1.1, 95% CI = 0.85-1.43; P = 0.47) or no exposure with clinical indication (RR = 1.17, 95% CI = 0.95-1.42; P = 0.13). The evidence shows no increased risk of congenital malformations and argues against a substantial cardiac teratogenic effect of SNRIs.

Down\'s syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.