3rd Percentile Research Articles

Utility of anthropometry in defining overweight and obesity in urban South Indian children.

Waist-based indicators of obesity are being used to detect central obesity and are predictive for metabolic syndrome (MS). The aim of the study is to assess the basic anthropometric indices in children, to determine the prevalence of overweight and obesity, and to determine the association between various waist-based measurements and body mass index (BMI). A cross-sectional study was conducted among children aged 10 to 15 years attending government corporation schools in Chennai. Basic anthropometric measurements were taken. BMI, waist circumference/height ratio (WHtR), and waist circumference/hip circumference ratio (WHR) were calculated. The percentiles (Indian reference cutoffs) were determined for waist circumference (WC) and BMI. The prevalence of overweight and obesity was determined and compared to waist-based parameters. Of 820 children, males constituted 47.1%. Stunting was seen in 9.8% and 7.8% were underweight. 8.2% had BMI less than the 3rd percentile. The prevalence of overweight and obese children was 9% and 3.2%, respectively, with female predominance. The majority had WC less than the 5th percentile. The prevalence of children under risk for MS based on WC >70th percentile was 4.5% and based on WHtR >0.5 was 8.2%. A significant association was identified between all waist-based anthropometric measurements to detect children at risk for MS and overweight/obese children as per BMI category. WHtR >0.5 was an indicator of overweight/obese children in logistic regression analysis. Early identification of children at risk of MS would require a combination of BMI to detect general obesity and waist-based anthropometric measurements to identify central obesity.

Noonan Syndrome Growth Charts and Genotypes: 15-year Longitudinal Single-centre Study.

Growth patterns in Noonan syndrome (NS) remain relatively unknown. The objective of this study was to provide growth reference curves for patients with NS and identify correlations between their growth, genotype, and clinical features. This was a 15-year-long, monocentric, observational, retrospective, non-interventional study. Children with NS followed up between 2005 and 2022 at 'Bambino Gesù' Children's Hospital, Italy, were included, and excluded if they had received growth hormone treatment. Comparison of growth curves of participants with NS versus the general Italian population and further genotypic analyses were performed. Overall, 190 eligible participants with NS were identified, with median (interquartile range) age of 14.01 (9.05-19.25) years, (55.8% male). Cardiovascular anomalies were present in 85.3% of participants, most commonly pulmonary stenosis (52.6%) and atrial septal defects (36.8%); 48.1% of male participants had cryptorchidism. The most frequently detected mutations were in PTPN11 (66.3%) and SOS1 (13.9%). NS-sex-specific centile curves for height, weight, body mass index, and height velocity were produced. For both sexes, the 50th percentile of height and weight for participants with NS overlapped with the 3rd percentile for the general Italian population. Both sexes with a PTPN11 mutation had a significantly lower height and weight than those with 'other mutations' at 5 years old. No significant associations were observed between cardiac anomalies and PTPN11 mutation status. We present longitudinal data describing growth curves and trends, the natural history, and genotypes of the NS population, which provide a useful tool for clinicians in the management of NS.

Periconceptional maternal supplement intake and human embryonic growth, development, and birth outcomes: the Rotterdam Periconception Cohort.

Is periconceptional multiple-micronutrient supplement (MMS) use including folic acid (FA) compared to FA use only associated with increased embryonic growth, development, and birth weight in a high-risk population? Women with MMS intake show no significant differences in first-trimester morphological embryo development, but increased first-trimester embryonic growth trajectories and fewer neonates born small for gestational age (SGA), less than the 3rd percentile (<p3), compared to women using only FA. Periconceptional maternal FA intake in the general population is associated with increased embryonic and fetal growth, and reduced risks of neural tube defects, other congenital malformations, low birth weight, and neonates born SGA. A prospective tertiary hospital-based cohort study (the Rotterdam Periconceptional Cohort) was conducted from January 2010 to December 2020. We included 1076 women from the Rotterdam Periconceptional Cohort, before 10 weeks of pregnancy with follow-up until delivery. Embryonic growth was assessed by measurement of crown-rump length (CRL) and embryonic volume (EV), and embryonic morphology was described by Carnegie stages using longitudinal three-dimensional ultrasound scans and virtual reality techniques. Birth outcomes were extracted from medical records. General characteristics and supplement use were extracted from research questionnaires. This study showed increased embryonic growth trajectories (adjusted models, CRL: β = 0.052, 95% CI 0.012-0.090, EV: β = 0.022, 95% CI 0.002-0.042) in women using MMS compared to those using only FA. Moreover, a 45% reduced risk of a neonate-born SGA (<p3) was shown in women using MMS compared to FA users (adjusted OR = 0.546, 95% CI 0.308, 0.969). Embryonic morphological development (Carnegie stages) and the occurrence of miscarriages did not differ between women using MMS or solely FA. Following the heterogeneity of the composition and dose of MMS preparations, it is unclear which specific micronutrient, combination, or dose explains the increased embryonic growth trajectory and reduction in risk for SGA. This also hampers the possibility of differentiating between the effects of FA alone or as a component of MMS. Our findings emphasize the importance of periconceptional maternal MMS use as a potential preventative intervention against reduced embryonic growth and neonates born SGA. Therefore, we recommend the periconceptional use of MMS in women at risk of inadequate micronutrient intake. However, awareness of potentially harmful side effects of high doses and combinations of micronutrients is essential, therefore the optimal composition and dose need to be investigated, and careful surveillance is recommended. This research was funded by the Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands, and the ZonMw grant Open Competition 2018 (09120011910046). The authors declare that they have no conflict of interest. NTR4356.

Argentine and World Health Organization head circumference standards: A comparison study.

Introduction. Several studies have shown population differences in head circumference (HC) that question the universal validity of the World Health Organization (WHO) standard to assess head growth. Objectives. To compare the Argentine reference charts for HC from 0 to 5 years of age with the WHO standards. Population and methods. The 3rd and 97th percentiles for HC based on the Argentine reference charts were compared with the corresponding WHO standard and the percentage of children classified as having microcephaly (HC < 3rd percentile of the WHO) and macrocephaly (HC > 97th percentile of the WHO) at specific ages between 0 and 5 years were estimated. Results. The comparison of the Argentine reference charts with the WHO standards shows that, in both males and females, at the 3rd percentile, the Argentine reference charts are below the WHO standards from 1 to 6 months of age, similar from 9 to 18 months of age, and then above until 60 months old. In relation to the 97th percentile, the Argentine reference charts are above the WHO standards from birth to 60 months in both boys and girls. Conclusions. The head size of Argentine children is different from that established by the WHO standards. The adoption of the WHO standards for our population increases the percentage of macrocephaly diagnosis at all ages.

Trypanosoma cruzi Infection in Pregnancies without Congenital Transmission Is Associated with Reduced Fetal Growth: A Cross-Sectional Study in Argentina, Honduras, and Mexico.

We aimed to measure the association between Trypanosoma cruzi infection in pregnancy and reduced fetal growth in the absence of T. cruzi congenital transmission. We conducted a cross-sectional study of secondary data of all singleton live births between 2011 and 2013 in five hospitals from Argentina, Honduras, and Mexico. We excluded newborns with T. cruzi infection. Noninfected pregnant people were those without any positive rapid tests. The main study outcomes were birth weight, head circumference, and length for gestational age and sex. Logistic regression models were adjusted for country, age, education level, and obstetric history. Of the 26,544 deliveries, 459 (1.7%) pregnant people were found by rapid tests to be positive for T. cruzi. Of these, 320 were positive by enzyme-linked immunosorbent assay and 231 had a positive polymerase chain reaction (PCR) test. Uninfected newborns from T. cruzi-infected pregnant people were more likely to have birth weights below the 5th and 10th percentiles and head circumferences below the 3rd and 10th percentiles. Among T. cruzi-infected pregnant people diagnosed by PCR, the odds ratios were 1.58 for birth weight below the 10th percentile (95% CI, 1.12-2.23) and 1.57 for birth weight below the 5th percentile (95% CI, 1.02-2.42). Higher T. cruzi parasitic loads in pregnancy had a stronger association with reduced fetal growth (both in birth weight and head circumference), with an odds ratio of 2.31 (95% CI, 1.36-3.91) for a birth weight below the 5th percentile. The association shows, irrespective of causality, that newborns of pregnancies with T. cruzi have an increased risk of reduced fetal growth. We recommend further studies to assess other potential confounders and the causality of these associations.

Endometriosis and risk of adverse pregnancy outcomes: a retrospective multicenter cohort study

To investigate first, the association between endometriosis and preterm birth; second, the associations between endometriosis and preeclampsia, placenta previa, postpartum hemorrhage, stillbirth, and small-for-gestational-age infants (assessed by birthweight); and third, the risk of these adverse pregnancy outcomes with and without the use of medically assisted reproduction. Multicenter retrospective cohort study. A total of 103 French maternity units. Deliveries by 368,935 women (377,338 infants) from 1999 through 2016. Endometriosis, defined as a single disease entity (endometriosis and/or ademyosis) MAIN OUTCOMES MEASURES: The main outcome was the preterm birth rate (both <37 and <33 weeks). The secondary outcomes were rates of preeclampsia, placenta previa, postpartum hemorrhage, stillbirth, and small-for-gestational-age neonates. Women in the endometriosis group had more frequent histories of infertility before the included pregnancy (34.7 vs. 5.0%), more hospitalizations during the pregnancy (27.4 vs. 19.8%), and more planned cesarean sections (14.0 vs. 8.7); they more often were nulliparous (51.7 vs. 43.4%). The prevalence of preterm birth at <37 weeks was 11.1% in the endometriosis group and 7.7% in the unexposed group, and for <33 weeks, it was 3.1% and 2.2%, respectively. The adjusted relative risk for confounding factors was higher in the endometriosis than the unexposed group for preterm delivery <37 weeks (1.40, 95% confidence interval, 1.18-1.67) or <33 weeks (1.53, 95% confidence interval, 1.08-2.16). For the secondary outcomes, the adjusted risk ratios for preeclampsia, placenta previa, postpartum hemorrhage, and small-for-gestational-age status of <10th and <5th percentiles were higher in the endometriosis group. The adjusted risk ratios for stillbirth and small-for-gestational-age status of <3rd percentile did not differ between the two groups, and those after stratification by medically assisted reproduction for preterm birth at <37 and <33 weeks did not differ statistically significantly between them, for the secondary outcomes, only the risk of placenta previa was higher in the medically assisted reproduction and non-medically assisted reproduction subgroups. Pregnant women with endometriosis had higher risks of preterm birth and other poor pregnancy outcomes than women without endometriosis.

Chronic Kidney Disease and Growth Failure in Children.

Chronic kidney disease (CKD) is a significant challenge for pediatric endocrinologists, as children with CKD may present a variety of endocrine complications. Growth failure is common in CKD, and its severity is correlated with the degree of renal insufficiency. Management strategies include addressing reversible comorbidities, optimizing nutrition, and ensuring metabolic control. Kidney replacement therapy, including transplantation, determines a significant improvement in growth. According to a recent Consensus Statement, children with CKD stage 3-or on dialysis older >6 months-are eligible for treatment with recombinant growth hormone (rGH) in the case of persistent growth failure. Treatment with rGH may be considered for those with height between the 3rd and 10th percentile and persistent growth deceleration. In children who received kidney transplantation but continue to experience growth failure, initiation of GH therapy is recommended one year post-transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not an option. In children with CKD, due to nephropathic cystinosis and persistent growth failure, GH therapy should be considered at all stages of CKD. Potential adverse effects and benefits must be regularly assessed during therapy. Treatment with GH is safe in children with CKD. However, its general efficacy is still controversial. All possible problems with a negative impact on growth should be timely addressed and resolved, whenever possible with a personalized approach to the patient. GH therapy may be useful in promoting catch-up growth in children with residual growth potential. Future research should focus on refining effective therapeutic strategies and establishing consensus guidelines to optimize growth outcomes in this population.

The Effect of Palatoplasty on Growth.

To assess the effect of palatoplasty on growth velocity in undernourished and nourished orally fed children with cleft palate. A retrospective chart review was conducted using a data query with cleft-associated ICD-10 and ICD-9 codes to identify children who underwent cleft palate repair between 2006 and 2022 at a tertiary pediatric hospital. Data gathered included demographics, admission variables, weight gain, and weight percentile as per the WHO growth chart data. Inclusion was limited to patients with complete growth data and without parenteral feeding support. Nutritional status was defined as undernourished (≤3rd percentile) and nourished (>3rd percentile). Between and within-group comparisons were made using nonparametric tests. A total of 192 patients met the study criteria. Among undernourished patients, the median pre- and postsurgical weekly weight gain was 0.09 kg and 0.05 kg (p = <0.0001), and the median growth percentiles were 0.67% and 1.1%, respectively (p = 0.03). Among nourished patients, the median pre- and postsurgical weekly weight gain was 0.12 kg and 0.07 kg (p = <0.0001), and the median growth percentiles were 25.4% and 29.5%, respectively (p = <0.0001). The postsurgical reduction in weight gain per week was similar across nutritional status (p = 0.43), however, the nourished group demonstrated a larger increase in median growth percentile (3.3% vs. 0.23%; p = 0.03). This study demonstrates that palatoplasty does not independently improve growth velocity in children who were able to maintain an oral preoperative diet. In the case of undernourished children, there was no clinically significant improvement in postoperative growth percentiles. 3 Laryngoscope, 2024.

Gestational Weight Gain and Neonatal Biometry during the COVID-19 Pandemic: A Multicenter Observational Cohort.

This study aimed to test the hypothesis that being pregnant and delivering during the coronavirus disease 2019 (COVID-19) pandemic was associated with changes in gestational weight gain (GWG) or frequency of small- (SGA) or large-for-gestational-age (LGA) neonates. Secondary analysis of a multicenter observational cohort comparing pregnant people who delivered during the COVID-19 pandemic (June-December 2020) to people who delivered prior to the pandemic (March-December 2019). Those with multiple gestations, fetuses with major congenital anomalies, implausible GWG values, unavailable body mass index (BMI), or who were severe acute respiratory syndrome coronavirus-2-positive were excluded. The primary outcome was frequency of optimal recommended GWG based on prepregnancy BMI. Neonatal outcomes included birth weight, ponderal index, and frequency of SGA, LGA, and small head circumference for live births. Multivariable regression analysis was used to assess associations between exposure to the pandemic and outcomes. A total of 10,717 pregnant people were included in our analysis. A total of 4,225 pregnant people were exposed to the pandemic and 6,492 pregnant people delivered prior to the COVID-19 pandemic. Pregnant people exposed to the pandemic were older and more likely to have gestational diabetes. The frequency of appropriate GWG was 28.0% during the pandemic and 27.6% before the pandemic (adjusted odds ratio [aOR]: 1.02, 95% confidence interval [CI]: 0.93-1.11). Excessive GWG was more likely (54.9 vs. 53.1%; aOR: 1.08, 95% CI: 1.001-1.17), and inadequate GWG was less likely during the pandemic (17.0 vs. 19.3%; aOR: 0.86, 95% CI: 0.77-0.95). The frequency of SGA was 5.4% during the pandemic and 6.1% before the pandemic (aOR: 0.90, 95% CI: 0.76-1.06), and the frequency of LGA was 16.0% during the pandemic versus 15.0% before the pandemic (aOR: 1.06, 95% CI: 0.95-1.18). Other neonatal outcomes including birth weight percentile (62.1 [35.8-83.2] vs. 60.2 [34.4-82.2]; adjusted mean difference (aMD) = 1.50, 95% CI: -0.28 to 3.29), ponderal index (2.6 g/cm3 [2.4-2.8] in both groups; aMD = 0.01, 95% CI: 0.00-0.02), and small head circumference for livebirths (<10th percentile [8.2 vs. 8.1%; aOR: 1.03, 95% CI: 0.89-1.19], <3rd percentile [3.5 vs. 3.1%; aOR: 1.16, 95% CI: 0.93-1.44]) were similar between groups as well. Being pregnant and delivering during the COVID-19 pandemic was associated with a higher likelihood of excessive GWG and a lower likelihood of inadequate GWG. · Delivering during the COVID-19 pandemic was associated with higher likelihood of excessive GWG.. · Delivering during the COVID-19 pandemic was associated with lower likelihood of inadequate GWG.. · COVID-19 pandemic was not associated with changes in frequency of SGA or LGA..

Outcomes and Morbidities in Low-Birth-Weight Neonates: A Retrospective Study From Western India.

Low birth weight (LBW) increases infant morbidity and mortality and is a major public health concern, especially in resource-constrained settings. The purpose of this retrospective study was to assess the outcomes and morbidities related to LBW neonates referred to a neonatal intensive care unit (NICU) in Western India. The present study examined the medical records of newborns weighing less than 2 kg at birth who were admitted to the NICU between September 15, 2016, and September 15, 2017. Data on long-term outcomes, clinical manifestations, morbidities, mortality, and demographic variables were gathered and analyzed. Descriptive statistics were used to present continuous variables as mean and standard deviation (SD), while categorical variables were presented as frequencies and percentages. Bivariate and multivariate logistic regression analyses were carried out to find the association between gestational age and major morbidities among LBW babies. Of 4710 births, 327 (6.9%) were LBW. The leading morbidities of LBW babies were respiratory distress syndrome (RDS) 153 (46.8%), neonatal jaundice 92 (28%), and septicemia 81 (25%), contributing to 58 (17.7%) deaths. Lower gestational age was associated with significantly higher adjusted odds of RDS (<28 weeks: reference; 28-32 weeks: adjusted odds ratio (AOR) 0.07, 95% confidence interval (CI) 0.01-0.33; ≥37 weeks: AOR 0.001, 95% CI 0.00005-0.02) and RDS-related mortality (28-32 weeks: AOR 0.26, 95% CI 0.06-1.13; ≥37 weeks: AOR 0.07, 95% CI 0.01-0.43). Among 250 successfully discharged cases, at 12 months, 18 (13.7%) had a weight below the 3rd percentile, and 9 (6.8%) failed the neurodevelopmental screening. LBW infants in this setting experience significant morbidities, mortality, and long-term growth and developmental effects. To alleviate the burden associated with LBW, improved neonatal care facilities, infection control protocols, and focused interventions are essential.

Temporal trend of age at menarche in Korean females born between 1927 and 2004: a population-based study.

The age at menarche has decreased worldwide. Previous studies on Korean adolescents have reported a downward trend in age at menarche. This study aimed to investigate the current trends in age at menarche among Korean adolescents using nationally representative data. The study used data from the Korea National Health and Nutrition Examination Survey 2007-2021. A total of 50,730 females born between 1927 and 2004 with information on age at menarche were included. The trend in age at menarche was analyzed according to 15 birth-year groups (with 5-year intervals) using quantile regression analysis. The mean age at menarche decreased from 16.92 ± 0.06 years for females born before 1935 to 12.45 ± 0.04 years for females born between 2000 and 2004 (p <.001). According to the percentile group of age at menarche, mean menarche age decreased by -0.071 years per year (95% confidence interval [CI], -0.072 to -0.070) in total, -0.050 years per year (95% CI, -0.052 to -0.048) in the 3rd percentile group, -0.088 years per year (95% CI, -0.091 to -0.085) in the 97th percentile group (p <.001 for all). A decreasing trend of age at menarche was more prominent in the obesity group (-0.080 years per year, 95% CI, -0.082 to -0.078) compared to the non-obesity group (-0.069 years per year, 95% CI, -0.071 to -0.068) (p <.001 for both). Ongoing downward trend in age at menarche was observed in Korean females born until 2004, decreasing by 0.71 years per decade. The downward trend was faster in individuals with a higher percentile of age at menarche and in those with obesity.

Assessment of fetal growth trajectory identifies infants at high risk of perinatal mortality.

To analyze perinatal risks associated with three distinct scenarios of fetal growth trajectory in the latter half of pregnancy compared with a reference group. This cohort study included women with a singleton pregnancy that delivered between 32 + 0 and 41 + 6 weeks' gestation and had two or more ultrasound scans, at least 4 weeks apart, from 18 + 0 weeks. We evaluated three different scenarios of fetal growth against a reference group, which comprised appropriate-for-gestational-age fetuses with appropriate forward-growth trajectory. The comparator growth trajectories were categorized as: Group 1, small-for-gestational-age (SGA) fetuses (estimated fetal weight (EFW) or abdominal circumference (AC) persistently < 10th centile) with appropriate forward growth; Group 2, fetuses with decreased growth trajectory (decrease of ≥ 50 centiles) and EFW or AC ≥ 10th centile (i.e. non-SGA) at their final ultrasound scan; and Group 3, fetuses with decreased growth trajectory and EFW or AC < 10th centile (i.e. SGA) at their final scan. The primary outcome was overall perinatal mortality (stillbirth or neonatal death). Secondary outcomes included stillbirth, delivery of a SGA infant, preterm birth, emergency Cesarean section for non-reassuring fetal status and composite severe neonatal morbidity. Associations were analyzed using logistic regression. The final study cohort comprised 5319 pregnancies. Compared to the reference group, the adjusted odds of perinatal mortality were increased significantly in Group 2 (adjusted odds ratio (aOR), 4.00 (95% CI, 1.36-11.22)) and Group 3 (aOR, 7.71 (95% CI, 2.39-24.91)). Only Group 3 had increased odds of stillbirth (aOR, 5.69 (95% CI, 1.55-20.93)). In contrast, infants in Group 1 did not have significantly increased odds of demise. The odds of a SGA infant at birth were increased in all three groups compared with the reference group, but was highest in Group 1 (aOR, 111.86 (95% CI, 62.58-199.95)) and Group 3 (aOR, 40.63 (95% CI, 29.01-56.92)). In both groups, more than 80% of infants were born SGA and nearly half had a birth weight < 3rd centile. Likewise, the odds of preterm birth were increased in all three groups compared with the reference group, being highest in Group 3, with an aOR of 4.27 (95% CI, 3.23-5.64). Lastly, the odds of composite severe neonatal morbidity were increased in Groups 1 and 3, whereas the odds of emergency Cesarean section for non-reassuring fetal status were increased only in Group 3. Assessing the fetal growth trajectory in the latter half of pregnancy can help identify infants at increased risk of perinatal mortality and birth weight < 3rd centile for gestation. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS. The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears. Stature was below the 3rd centile in two-third of the individuals, while no subject showed typical NS cardiac involvement. Notably, craniosynostosis was documented only in three unrelated individuals, while a dolichocephalic aspect of the skull in absence of any other evidence supporting a premature closing of sutures was observed in other 10 subjects. Unilateral Wilms tumor was diagnosed in one individual. Most cases were familial, indicating an overall low impact on fitness. Variants were nonsense and frameshift changes, supporting ERF haploinsufficiency. These findings provide evidence that heterozygous loss-of-function variants in ERF cause a "RASopathy" resembling NS with or without craniosynostosis, and allow a first dissection of the molecular circuits contributing to MAPK signaling pleiotropy.

Clinical Characteristics of Hypospadias and Its Association with Very Low Birth Weight Infants with Small for Gestational Age

Purpose: To investigate the risk factors associated with hypospadias in very low birth weight (VLBW) infants (VLBWIs).Methods: We retrospectively analyzed 729 infants born at ≥24 weeks of gestational age and weighing &lt;1,500 g from January 2012 to December 2022. We assessed the prevalence of hypospadias by birth weight percentiles and also compared the demographics and placental histopathology of the infants with hypospadias (n=52) and those without hypospadias (n=677).Results: Of the 729 patients analysed, hypospadias was recorded in 26 (20.3%), 14 (26.9%), and 12 (2.5%) infants in the &lt;3rd, ≥3rd–&lt;10th, and ≥10th–&lt;90th percentiles, respectively. Of all of the patients with hypospadias, 50% had birth weights &lt;3rd percentile (p&lt;0.001). The hypospadias group demonstrated a longer mean gestational age (30.1 weeks vs. 27.9 weeks, p&lt;0.001), lower incidence of maternal pregnancy-induced hypertension (48.1% vs. 17.3%, p&lt;0.001), lower incidence of premature rupture of membrane (11.5% vs. 27.1%, p=0.013), lower acute chorioamniotic maternal response (9.1% vs. 35.2%, p&lt;0.001), and higher maternal underperfusion (95.5% vs. 71.9%, p&lt;0.001).Conclusion: The frequency of hypospadias was found to be the highest among VBLWIs &lt;3rd percentile, who were severely small for their gestational age (SGA). Additionally, the incidence increased with a decreasing birth weight. Physical examination is necessary at birth for VLBWIs classified as SGA. Moreover, the data on the incidence of hypospadias among VLBWIs in neonatal intensive care units can assist in tracking counseling from the prenatal to the postnatal period for patients born &lt;3rd percentile.

Plasma soluble fms-like tyrosine kinase 1 to placental growth factor ratio of 11.5 multiples of median predicts preeclampsia with severe features within 2 weeks of testing

BackgroundAngiogenic imbalances, characterized by an excess of antiangiogenic factors (soluble fms-like tyrosine kinase 1 [sFlt-1]) and reduced angiogenic factors (VEGF and placental growth factor [PlGF]), contribute to the mechanisms of disease in preeclampsia. The ratio of sFlt-1 to PlGF has been used as a biomarker for preeclampsia, but cut-off values may vary with gestational age and assay platform. ObjectivesTo compare multiples of the median (MoM) of maternal plasma sFlt-1/PlGF ratio, sFlt-1, PlGF, and conventional clinical and laboratory values to predict preeclampsia with severe features. Study DesignWe conducted a cohort study across 18 U.S. centers involving hospitalized hypertensive individuals between 23-35 weeks' gestation. Receiver operating characteristic curve (ROC) analyses of maternal plasma biomarkers, highest systolic or diastolic blood pressures, and laboratory values at enrollment were performed for the prediction of preeclampsia with severe features. Their areas under the curve (AUC) were compared, and quasi-Poisson regression models were fitted to estimate relative risks. The primary outcome was preeclampsia with severe features within two weeks of enrollment. Secondary outcomes were a composite of severe adverse maternal outcomes (elevated liver enzymes, low platelets count, placental abruption, eclampsia, disseminated intravascular coagulation, and pulmonary edema) and a composite of severe adverse perinatal outcomes (birthweight <3rd percentile, very preterm birth [<32 weeks] and fetal/neonatal death). ResultsOut of 543 individuals included in the study, preeclampsia with severe features within two weeks was observed in 33.1% (n=180) of them. A ROC-derived cut-off of 11.5 MoM for sFlt-1/PlGF plasma ratio provided sensitivity (90.6%), specificity (76.9%), positive predictive value (66.0%), negative predictive value (94.3%), positive likelihood ratio (3.91), negative likelihood ratio (0.12), and accuracy (81.4%) for preeclampsia with severe features within two weeks. This cut-off was used to compare test positive cases (≥ cut-off) and test negative cases (< cut-off). Preeclampsia with severe features (66.0% vs. 5.7%; <0.001), and composites of severe adverse maternal (8.11% vs. 2.7%; p=0.006) or perinatal outcomes (41.3% vs. 10.14%; p=0.001) within two weeks were more frequent in test positive cases than test negative cases. sFlt-1/PlGF plasma ratio ≥11.5 MoM was independently associated with preeclampsia with severe features (adjusted incidence rate ratio [aIRR]: 9.08, 95% CI: 6.11 to 14.06; p<0.001) and a composite of severe adverse perinatal outcomes (aIRR: 9.42, 95% CI: 6.36 to 14.53; p<0.001), but not with a composite of severe adverse maternal outcomes (aIRR: 2.20, 95% CI: 0.95 to 5.54; p=0.08).The AUC of sFlt-1/PlGF plasma ratio in MoM (0.91; 95% CI: 0.89-0.94) for preeclampsia with severe features within two weeks was significantly higher (p<0.001 for all comparisons) than either plasma biomarker alone or any other parameter, with the exception of absolute sFlt-1/PlGF plasma ratio values. ConclusionsSFlt-1/PlGF plasma ratio ≥11.5 MoM among hospitalized, hypertensive patients between 23- and 35-week’s gestation predicts progression to preeclampsia with severe features and severe adverse perinatal outcomes within two weeks.

A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.

Assessing the Body Composition of "Picky Eaters" Using Body Impedance Analysis: An Experience From a Tertiary Care Center.

Picky eating might be associated with a higher risk of being underweight and poor growth. This study aimed to investigate if picky eaters aged between three and 12 yearsshowed differences in height, weight, and body composition compared to their non-picky peers using a body impedance analysis (BIA). This cross-sectional study was conducted between March 1, 2022, and July 31, 2022, on children aged three to 12 years who presented to the outpatient pediatric clinics at Al Habib Ar Rayyan in Riyadh, Saudi Arabia. Body composition was measured using BIA after manually inserting the height, gender, and age into the machine, where body mass index (BMI), fat mass, and skeletal muscle mass were recorded. Participants were classified as under/normal/over for each body composition measurement. A total of 2234 children were entered into the final data analysis. Our analysis showed that 1917 (85.8%) were Saudis and 1117 (50%) were males. The mean age of participants was 6.08±2.01 years and 1151 (51.5%) were in the pre-school age. The reported prevalence of picky eaters was 1684 (75.4%), of whom, 606 (27.0%) were selective eaters, 365 (16.2%) were low appetite eaters, and 723 (32.2%) were both selective and low appetite eaters. Being underweight was significantly more common among the picky eaters 487 (28.9%) compared to those non-picky eaters 55 (10.0%) (p<0.001). Significantly, 1280 (76%) picky eaters had below-average skeletal muscle mass compared to 151non-picky eaters (27.5%) (p<0.001). The low appetite picky eater group had more under skeletal muscle mass children 277 (75.9%) compared to the selective picky eater group412 (68.0%) (p=0.009).Additionally, the low appetite group possessed lower muscle ratios (p=0.012) and were more underweight than the selective group (p<0.001). Furthermore, the low appetite group showed a higher percentage of children below the 3rd percentile in the height for age category (p=0.003) compared to the selective group. This study is the first of its kind in Saudi and globallyto evaluate body composition using BIA among children. The study showed that picky eating is more associated with underweight children and low muscular mass. Despite the normal BMI, height, and weightof a picky eater, their skeletal muscle mass might be less than average,which could be associated with an increased risk of morbidity.

Comparison of competing-risks model with angiogenic factors in midgestation screening for preterm growth-related neonatal morbidity.

First, to evaluate the predictive performance for preterm growth-related neonatal morbidity of a high soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) ratio or low PlGF at midgestation and, second, to compare the performance of a high sFlt-1/PlGF ratio or low PlGF with that of the competing-risks model for small-for-gestational age (SGA), utilizing a combination of maternal risk factors, sonographic estimated fetal weight and uterine artery pulsatility index. This was a prospective observational study in women attending for a routine hospital visit at 19-24 weeks' gestation in two maternity hospitals in England. The visit included recording of maternal demographic characteristics and medical history, carrying out an ultrasound scan and measuring serum PlGF and sFlt-1. The primary outcome was delivery < 32 and < 37 weeks' gestation of a SGA neonate with birth weight < 10th or < 3rd percentile, combined with neonatal unit (NNU) admission for ≥ 48 h or a composite of major neonatal morbidity. The detection rates in screening by PlGF < 10th percentile, sFlt-1/PlGF ratio > 90th percentile and the competing-risks model for SGA were estimated and then compared using McNemar's test. In the study population of 40 241 women, prediction of preterm growth-related neonatal morbidity provided by the competing-risks model for SGA was superior to that of screening by low PlGF concentration or high sFlt-1/PlGF ratio. For example, at a screen-positive rate of 10.0%, as defined by the sFlt-1/PlGF ratio > 90th percentile, the competing-risks model predicted 70.1% (95%CI, 61.0-79.2%) of SGA < 10th percentile and 76.9% (95%CI, 67.6-86.3%) of SGA < 3rd percentile with NNU admission for ≥ 48 h delivered < 32 weeks' gestation. The respective values for SGA with major neonatal morbidity were 73.8% (95%CI, 64.4-83.2%) and 77.9% (95%CI, 68.0-87.8%). These were significantly higher than the respective values of 35.1% (95%CI, 25.6-44.6%), 35.9% (95%CI, 25.3-46.5%), 38.1% (95%CI, 27.7-48.5%) and 39.7% (95%CI, 28.1-51.3%) achieved by the application of the sFlt-1/PlGF ratio > 90th percentile (all P < 0.0001). At midgestation, the prediction of growth-related neonatal morbidity by the competing-risks model for SGA is superior to that of a high sFlt-1/PlGF ratio or low PlGF. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Analysis of MRI brain biometrics in fetuses monitored for intra uterine growth restriction and their prognostic value: Results of a prospective multicenter study

ObjectiveShow a prognostic value of brain changes in fetuses with intra uterine growth restriction (IUGR) on early neonatal outcome. Study DesignWe prospectively recruited pregnant women whose fetuses presented fetal weight < 5th centile. A brain MRI was performed between 28 and 32 weeks of gestation (WG). Several brain biometrics were measured (as fronto-occipital diameter (FOD) and transverse cerebellar diameter (TCD)). Neonatal prognosis was evaluated according to a composite criterion. ResultsOf the 78 patients included, 62 had a fetal brain MRI. The mean centile value of FOD was lower in the unfavorable outcome group (n = 9) compared to the favorable outcome group (n = 53) (24.5 ± 16.8 vs. 8.6 ± 13.2, p = 0.004). The ROC curve for predicting risk of unfavorable neonatal outcome based on FOD presented an area under the curve of 0.81 (95 % CI, [0.63–––0.99]) and a threshold determined at the 3rd centile was associated with sensitivity of 0.78 and a specificity of 0.89. In multivariate analysis, a FOD less than the 3rd centile was significantly associated with an unfavorable neonatal risk. There also was a reduction in TCD (25.5 ± 21.5 vs. 10.4 ± 10.4, p = 0.03) in the unfavorable neonatal outcome group. ConclusionWe found an association between a reduction in FOD and TCD in fetal MRIs conducted between 28 and 32 WG in fetuses monitored for IUGR with an unfavorable neonatal outcome. Our results suggest that these biometric changes could constitute markers of poor neonatal prognosis.

Postnatal functional integrity of the brainstem auditory pathway in late preterm infants born of small-for-gestation age: how different from those born of appropriate-for-gestation.

It is unclear whether there is any postnatal abnormality in brainstem auditory function in late preterm small-for-gestational-age (SGA) infants. We investigated the functional integrity of the brainstem auditory pathway at 4months after term in late preterm SGA infants and defined differences from appropriate-for-gestational age (AGA) infants. The maximum length sequence brainstem evoked response (MLS BAER) was recorded and analyzed in 24 SGA (birthweight < 3rd centile) infants and 28 AGA infants (birthweight > 10th centile). All infants were born at 33-36-week gestation without major perinatal and postnatal problems. We found that I-V interval in SGA infants was shorter than in AGA infants at higher click rates and significantly shorter at the highest rate of 910/s. Of the two smaller intervals, I-III interval was significantly shorter in SGA infants than in AGA infants at higher click rates of 455 and 910/s clicks, whereas III-V interval was similar in the two groups. The III-V/I-III interval ratio in SGA infants tended to be greater than in AGA infants at all rates and was significantly greater at 455 and 910/s clicks. The slope of I-III interval-rate functions in SGA infants was moderately smaller than in AGA infants. Conclusions: The main and fundamental difference between late preterm SGA and AGA infants was a significant shortening in the MLS BAER I-III interval in SGA infants at higher click rates, suggesting moderately faster neural conduction in the caudal brainstem regions. Postnatal neural maturation in the caudal brainstem regions is moderately accelerated in late preterm SGA infants. What is Known: • At 40weeks of postconceptional age, late preterm SGA infants manifested a mild delay in neural conduction in the auditory brainstem. What is New: • At 56weeks of postconceptional age, late preterm SGA infants manifested moderately faster neural conduction in the caudal brainstem regions. • Postnatal neural maturation is moderately accelerated in the caudal brainstem regions of late preterm SGA infants.