Female Pediatric Patients Research Articles

Development of a Pediatric Age-Based and Weight-Adjusted Nomogram for Bladder Volumes Associated With Successful Completion of Transabdominal Pelvic Ultrasound (TPU).

To develop a nomogram for pediatric bladder volumes associated with the successful completion of transabdominal pelvic ultrasound (TPU) in female pediatric patients presenting with lower abdominal and/or pelvic pain in the emergency department. This study hypothesizes that the target bladder volumes for successful TPU vary by age and weight. We retrospectively calculated bladder volumes on all successful transabdominal pelvic ultrasound studies during a 2-year period for patients 8 to 18 years old by ellipsoid bladder volume formula using the largest cross-sectional areas captured on transverse and longitudinal cine clips. Measurements were collected by 2 study personnel with initial measurements validated by a pediatric radiologist. Bladder volume by age and weight percentile groups were descriptively analyzed, and a quantile regression model was used to regress bladder volume on age adjusting for patient weight. We analyzed bladder volumes from 1030 successful transabdominal pelvic ultrasound studies. The greatest drop in median volume was seen amongst non-overweight children in younger age groups. Nomogram bladder volumes for transabdominal pelvic ultrasound increase consistently with age and weight until approximately 13 years old and 60kg, respectively, with minimal change thereafter in patients 13 to 18 years old. We provide a pediatric age-based and weight-adjusted nomogram for bladder volumes associated with successful transabdominal pelvic ultrasound imaging. Further evaluation of its use is warranted to decrease inefficiency in bladder filling prior to TPU completion and improve timeliness in diagnosing pelvic emergencies.

Clinical utility of anti-Müllerian hormone in female children and adolescents.

Anti-Müllerian hormone (AMH) is a dimeric glycoprotein that belongs to the transforming growth factor beta superfamily and plays essential roles in sexual differentiation and folliculogenesis. In the male embryo, AMH is produced by the Sertoli cells and induces the involution of the Müllerian ducts. In females, AMH is predominately produced by the granulosa cells of growing preantral and small antral follicles and regulates follicular maturation. Many recent studies have highlighted the significant role of this hormone in the diagnostic approach to female children and adolescents with various disorders that affect ovarian development and function. AMH is considered a valuable diagnostic tool in the management of female pediatric patients with conditions such as polycystic ovary syndrome, precocious puberty, ovarian tumors, differences in sex development, and premature ovarian insufficiency. Standardization of AMH assays, internationally approved reference values based on age and pubertal stage, and widespread availability of the test could further upgrade the clinical utility of AMH, rendering it a valuable tool in the armamentarium of physicians involved in the care of female children and adolescents, and promote future research.

Clinical parameters and postoperative outcomes of pituitary adenomas in children: Analysis according to size of adenomas and adopted surgical procedures.

Pathologies of pediatric pituitary adenomas are uncommon and challenging to diagnose. Pituitary adenomas cause mass effects and neurological disruption in children. Postoperative evaluations of endocrine functions are challenging. The present study categorized adenomas by size and type, and evaluated outcomes based on the surgical procedures adopted. In addition, the present study analyzed the demographic parameters of children as well as the factors supposed to be influencing remission. Clinical characteristics, treatment parameters and postoperative outcomes of curative surgeries in 135 children [80 (59%) females and 55 (41%) males; age 12 (11-13) years at the time of first diagnosis] with pituitary adenomas who underwent curative surgeries operated between 1998 and 2023 in the Yichang Central People's Hospital, (Yichang, China) were included in the present retrospective study. A total of 112 (83%) children had microadenomas (<10 mm adenomas), 6 (4%) had macroadenomas (≥10 mm adenomas) and 17 (13%) had invisible adenomas. Pathological examination revealed that 59 (44%) children had functional adenomas and 10 (7%) had non-functional adenomas. Among functional adenomas, acromegaly (excess secretion of insulin-like growth factor 1) was reported to be the most common [30 (22%)] pediatric adenomas, followed by prolactinomas [prolactin secretion ≥1,000 mIU/l; 20 (15%) and Cushing syndrome (9 (7%)]. A total of 23 (17%), 3 (2%), 4 (3%), 3 (2%) and 3 (2%) children were reported to have remission and underwent re-surgery. These patients (remission) underwent microscopic trans-sphenoidal resection, endoscopic endonasal trans-sphenoidal resection, trans-sphenoidal resection alone, bilateral adrenalectomy and gross total resection adopted curative surgeries initially, respectively. Postoperative diabetes insipidus, adrenal insufficiency and cerebrospinal fluid leaks have been reported in children who have undergone curative surgeries for macroadenomas or Cushing syndrome. Female pediatric patients with clinical manifestations were more likely to have pituitary adenomas. Pediatric patients generally have functional pituitary adenomas, particularly adreno-corticotropin-secreting adenomas. Microscopic trans-sphenoidal resection is associated with a lower risk of under-treatment. Postoperative outcomes and clinical benefits of curative surgeries are based on the complete type of surgical removal and size of the pituitary adenomas mass (Level of Evidence: 3; Technical Efficacy Stage: 4).

Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study

BackgroundDanon disease (DD) is a rare X-linked dominant lysosomal storage disorder. Studies on DD paediatric patients are limited owing to the small number of cases and challenges in early detection. MethodsWe retrospectively analysed clinical and genetic data of 29 paediatric patients who visited our hospital for treatment of or genetic counselling for DD from July 2014 to December 2023. ResultsThe mean age at diagnosis was 7.2 ± 5.9 years for boys (n = 21) and 9.4 ± 5.0 years for girls (n = 8). Asymptomatic elevated liver transaminase or creatine kinase (CK) levels were initial manifestations detected in 10 male patients (48%) and absent in female patients. Hypertrophic cardiomyopathy (HCM) was observed in 20 male patients (95%) and 7 female patients (88%), whereas dilated cardiomyopathy (DCM) was not detected. Ventricular preexcitation (VP) was observed initially in 10 patients (36%) and in 15 (54%) at latest evaluation. Patients with VP had higher left ventricular posterior wall thickness in end-diastole z-scores than those without VP (5.6 ± 2.2 vs 3.5 ± 2.1; P = 0.029). During a median 2.7 years of follow-up, 2 male patients received heart transplants. One boy and 1 girl died of heart failure and sudden cardiac arrest, respectively. Twenty-three pathogenic LAMP2 variants were identified, including 7 novel variants. ConclusionsA retrospective review of 29 DD cases suggests an underrecognised asymptomatic period in male DD patients, characterised by elevations in serum CK and transaminases. HCM appears to be the only cardiac manifestation in paediatric female patients, unlike a high incidence of DCM in adult female patients. The incidence of VP may increase with disease progression.

Anterior deflected urinary stream in female children: description of a unique clinical entity and surgical management.

To investigate the clinical presentation and outcomes for a series of female pediatric patients with severe anterior deflection of the urinary stream (ADUS) who were managed via urethromeatoplasty. This single institution retrospective cohort study used the institutional billing database to identify female patients ≤18 years who received a urethromeatoplasty (CPT 53450) from 2007 to 2022. Patients were included if a substantial anterior deflection of their urinary stream was the primary indication for surgery. Patients were excluded if they were >18 years of age, had a history of prior genital trauma, or underwent surgery for an indication other than a deflected urinary stream. Twenty female patients underwent urethromeatoplasty between 2007 and 2022, with a median age of 3 years old. All patients presented with difficulty aiming the urinary stream during toilet training and demonstrated a web of tissue along the posterior aspect of the urethral orifice. 19/20 patients noted immediate response (i.e., normal, non-deflected urinary stream) after the urethromeatoplasty with no further urinary complaints. There were no post-operative complications within a 90-day period. ADUS is a clinical entity characterized by a web of deflecting tissue at the female posterior urethral meatus that causes severe urinary deflection without other urologic symptoms. This is not well-described in the literature. Surgical correction via urethromeatoplasty is safe and effective.

Access to medications in pediatric patient with hereditary angioedema: the role of the pharmacist

A request for icatibant 30 mg/3ml, a high-cost drug, was made to the pharmacy at the Hospital in San Francisco (Córdoba, Argentina). This medication was not available at the institution (off-formulary), and its active ingredient is only marketed by two laboratories in the country. The cost ranges between 3,500 and 4,500 USD per ampoule, depending on the brand. The medication was requested for a 9-year-old female pediatric patient diagnosed with hereditary angioedema, confirmed by laboratory tests, and prescribed a dose of 15 mg via the subcutaneous route. It was indicated for treating acute episodes, such as facial and/or laryngeal edema, and for administration prior to surgery, such as a dental extraction. The cost of the medication was unaffordable for a family without private health insurance. Additionally, the family lived far from the health center, so it was requested that at least two doses be made available for her. This case highlights the significant challenges in accessing high-cost, life-saving medications for a young patient with hereditary angioedema in a low-resource setting. The situation emphasizes the critical role of pharmacists in navigating these challenges to ensure that patients receive the necessary treatment despite financial and logistical barriers. The pharmacist plays a pivotal role in overcoming these difficulties by addressing the five dimensions of access to medication: availability, affordability, accessibility, acceptability, and quality. In this case, the pharmacist's role extends far beyond dispensing medications. It involves active participation in the management of rare and complex conditions, advocating for patient access to necessary treatments, and ensuring that the care provided is both effective and sustainable.

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome.

Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations. Female patients, however, show various phenotypes ranging from asymptomatic to severe with no genotype-phenotype correlations. However, the factors affecting the severity of XLAS in female patients are unclear. Since X-chromosome inactivation (XCI) affects the severity of certain female X-linked diseases, we investigated whether genotype and XCI were associated with XLAS severity in female patients in a large Japanese cohort. Among 139 female patients with genetically diagnosed XLAS at our institution, we conducted XCI analysis on peripheral blood leukocytes using the human androgen receptor assay method and analyzed two cohorts. In 74 adult female patients, we evaluated the correlation between kidney function (creatinine-estimated glomerular filtration rate [Cr-eGFR] optimized for Japanese individuals) and genotype/XCI using multivariable linear regression analysis, and in 65 pediatric female patients, we evaluated the correlation between kidney function (Cr-eGFR optimized for Japanese individuals) and genotype/XCI using multivariable linear regression analysis. We also investigated the correlation between the development of proteinuria (urine protein-to-creatinine ratio above normal for the patient's age) and genotype/XCI using multivariable Cox proportional hazard analysis. In adult female patients, XCI pattern was significantly associated with Cr-eGFR (regression coefficient estimate = -0.53, P=0.004), whereas genotype was not (P=0.892). In pediatric female patients, both genotype and XCI pattern were significant independent risk factors for the development of proteinuria (hazard ratio [HR], 3.702; 95% confidence interval [CI], 1.681-8.150; P=0.001 and HR, 1.043; 95% CI, 1.061-1.070; P=0.001, respectively), whereas both genotype and XCI pattern were not associated with Cr-eGFR (P=0.20, P=0.67, respectively). Genotype and XCI are factors associated with the severity in females with XLAS.

Sex-disaggregated analysis of acute kidney injury in hospitalized children with sickle cell anemia in Uganda.

A growing body of research is categorizing sex differences in both sickle cell anemia (SCA) and acute kidney injury (AKI); however, most of this work is being conducted in high-resource settings. Here, we evaluated risk factors and clinical parameters associated with AKI and AKI severity, stratified by sex, in a cohort of children hospitalized with SCA and vaso-occlusive pain crisis (VOC). The purpose of this study was to explore sex disparities in a high-risk, vulnerable population. This study was a secondary analysis of data collected from a cohort of Ugandan children between 2 and 18 yr of age prospectively enrolled. A total of 185 children were enrolled in the primary study; 41.6% were female and 58.4% were male, with a median age of 8.9 yr. Incident or worsening AKI (P = 0.026) occurred more frequently in female compared with male children, despite no differences in AKI on admission. Female children also had altered markers of renal function including higher creatinine levels at admission (P = 0.03), higher peak creatinine (P = 0.006), and higher urine neutrophil gelatinase-associated lipocalin (NGAL) at admission (P = 0.003) compared with male children. Female children had elevated total (P = 0.045) and conjugated bilirubin at admission (P = 0.02) compared with male children and higher rates of hematuria at admission (P = 0.004). Here, we report sex differences in AKI in children with SCA and VOC, including increased incidence and worsening of AKI in female pediatric patients, in association with an increase in biological indicators of poor renal function including creatinine, estimated glomerular filtration rate, and NGAL.NEW & NOTEWORTHY In this study, we report an increased risk of developing acute kidney injury (AKI) during hospitalization, worsening AKI, and death among females with sickle cell anemia (SCA) hospitalized with an acute pain crisis compared with males. The sex differences in AKI were not explained by socioeconomic differences, severity of pain, or disease severity among females compared with males. Together, these data suggest that female children with SCA may be at increased risk of AKI.

Population pharmacokinetics of olanzapine in pediatric patients with psychiatric disorders

ABSTRACT Objective To develop and validate a population pharmacokinetic (PPK) model of oral olanzapine in pediatric Chinese patients in order to individualize therapy in this population. Methods A total of 897 serum concentrations from 269 pediatric patients taking oral olanzapine (ages 8–17 years) were collected. Demographic parameters, biological characteristics and concomitant medications were investigated as covariates. The data were analyzed using a nonlinear mixed-effects modeling approach. Bootstrapping (1000 runs), normalized prediction distribution error (NPDE), and external validation of 62 patients were employed. Simulations were performed to explore the individualized dosing regimens in various situations. Results The one-compartment model with first-order absorption and elimination had an apparent clearance (CL/F) of 10.38 L/h, a distribution volume (V/F) of 9.41 L/kg and an absorption rate constant (Ka) fixed at 0.3 h−1. The equation was CL∕F (L∕h) = 10.38 × (body weight∕60)0.25 ×1.33 (if male) × 0.71 (if co-occurrence of infection) × 0.51 (if co-therapy with fluvoxamine) × 1.27 (if co-therapy with sertraline) × 1.43 (if co-therapy with valproate). The final model had satisfactory stability, robustness, and predictive ability. The results from a simulation suggested the oral olanzapine doses required for male and female pediatric patients weighing between 40 and 60 kg without co-medication were 10–15 mg/day and 7.5–10 mg/day, respectively, and dosage adjustments should be based on sex and body weight; and co-administrated with valproate, sertraline, or fluvoxamine. Conclusion This model may help individualize optimum dosing of oral olanzapine for pediatric patients.

Sex-specific blood-derived RNA biomarkers for childhood tuberculosis

Confirmatory diagnosis of childhood tuberculosis (TB) remains a challenge mainly due to its dependence on sputum samples and the paucibacillary nature of the disease. Thus, only ~ 30% of suspected cases in children are diagnosed and the need for minimally invasive, non-sputum-based biomarkers remains unmet. Understanding host molecular changes by measuring blood-based transcriptomic markers has shown promise as a diagnostic tool for TB. However, the implication of sex contributing to disease heterogeneity and therefore diagnosis remains to be understood. Using publicly available gene expression data (GSE39939, GSE39940; n = 370), we report a sex-specific RNA biomarker signature that could improve the diagnosis of TB disease in children. We found four gene biomarker signatures for male (SLAMF8, GBP2, WARS, and FCGR1C) and female pediatric patients (GBP6, CELSR3, ALDH1A1, and GBP4) from Kenya, South Africa, and Malawi. Both signatures achieved a sensitivity of 85% and a specificity of 70%, which approaches the WHO-recommended target product profile for a triage test. Our gene signatures outperform most other gene signatures reported previously for childhood TB diagnosis.

Quantum Molecular Resonance Electrotherapy for the Treatment of Pediatric Ocular Rosacea.

The purpose of this study was to report the outcomes of quantum molecular resonance (QMR) electrotherapy in the management of refractory pediatric ocular rosacea. This is a retrospective case series on 3 female pediatric patients (ages 12, 15, 14 years) with ocular rosacea. Two patients presented with corneal stromal neovascularization and punctate epithelial erosions while 1 patient presented with corneal scarring and paracentral stromal thinning. After failing conservative management, the patients were treated with 4 consecutive QMR electrotherapy sessions with the intensity set at 5 corresponding on average to a power of 12 W, with 60 V voltage and 200 mA current. Informed consent was obtained for off-label use. Patients were assessed for changes in vision, foreign body sensation, tearing, photophobia, and redness at each visit to determine symptomatic improvement. Outcome measures include best-corrected visual acuity, use of supplemental therapies (eg topical steroids) for symptom relief, extent of corneal neovascularization via serial slitlamp photography, and corneal scar remodeling via high resolution anterior segment optical coherence tomography (OCT). Two of the 3 patients experienced improvement in visual acuity after QMR electrotherapy. Corneal neovascularization and scarring regressed significantly in all 3 patients. Two months post-QMR electrotherapy, corneal remodeling was evident on optical coherence tomography in 2 patients. All 3 patients were able to discontinue topical immunosuppressants and remain symptom-free at 1.5 years of follow-up. QMR electrotherapy is a promising alternative in the treatment of refractory ocular rosacea in childhood and puberty, and it may potentiate corneal remodeling.

Evaluation of Tibial Slope on Radiographs in Pediatric Patients With Tibial Spine Fractures: An Age- and Sex-Matched Study.

A recent study has reported that the radiographic measurement of posterior tibial slope (PTS) is larger in male pediatric patients with tibial spine fractures (TSF) than in controls. However, they found no difference in PTS between female patients and controls. (1) To identify whether PTS is larger in female pediatric patients with TSF than in female controls and (2) to validate the relationship between PTS and pediatric TSF in male patients. Cross-sectional study; Level of evidence, 3. After an a priori power analysis, 84 pediatric patients with TSF (50 female patients and 34 male patients) and 84 age- and sex-matched controls were enrolled in this study. Demographic information, including sex, age, and race, was recorded. Skeletal maturity was determined based on the stage of epiphyseal union on knee radiographs. PTS was defined as the angle between a line perpendicular to the longitudinal axis of the tibia and the posterior inclination of the medial tibial plateau on standard knee lateral radiographs. The mean age when the TSF occurred was 11.2 ± 2.7 years for female patients and 12.9 ± 2.5 years for male patients. There was no significant difference in skeletal maturity between female patients and female controls or between male patients and male controls. The mean PTS was not significantly different between female patients (8.8°± 2.8°) and female controls (8.3°± 3.1°) (P = .366) or between male patients (9.0°± 2.8°) and male controls (9.3°± 2.6°) (P = .675). Those with a PTS >1 SD (2.9°) above the mean (8.8°) had no greater odds (1.0 [95% CI, 0.4-2.5]; P≥ .999) of having a TSF than others. PTS was not found to be a risk factor for pediatric TSF in female or male patients in this study.

Vulvar lichen sclerosus in female children

Background: Vulvar lichen sclerosus (VLS) is an uncommon inflammatory dermatosis affecting the anogenital region. There are two peaks of incidence: one in prepubertal girls and the other in postmenopausal women. Its etiopathogenesis remains unknown. Objective: The objective was to specify the clinical characteristics of VLS in the female pediatric population in order to plan early treatment. Results: A total of 12 pediatric female patients were identified in the study. The mean age of onset was six years. Numerous potential etiological factors for VLS development were identified. Pruritus was the main symptom in a significant proportion of the patients. All patients had a good response to topical therapy with no significant side effects. Conclusion: VLS should be suspected in the presence of chronic vulvar pruritus in order to avoid tragic repercussions in adulthood. Appropriate treatment for each patient is essential as is the prevention of the side effects of applied treatments. Key words: Vulvar Lichen Sclerosis; pediatric; adolescent

Preoperative evaluation of the persistent urogenital sinus in cases with congenital adrenal hyperplasia

BackgroundCongenital adrenal hyperplasia (CAH) is a common cause of urogenital sinus (UGS) anomalies. Delineating the abnormal anatomy of the UGS is crucial prior to the operative repair. Genitography and cystourethroscopy are commonly used by most surgeons to plan for reconstruction. We aim at this study to evaluate the role of these modalities and to compare their accuracy in delineating the abnormal anatomy.MethodsWe did a prospective study of 30 female paediatric patients with persistent UGS secondary to CAH. All cases were evaluated with genitography and cystourethroscopy. We compared the accuracy of each modality in delineating the confluence. The confluence depth, the urethral length proximal to the confluence, the vaginal dimensions, and the depth of the bladder neck were measured in the genitograms.ResultsCystourethroscopy showed the abnormal anatomy in all 30 cases (100%). The genitogram showed the site of confluence in 24 cases out of 30 cases (80%). According to the site of the vaginal opening in relation to the external urethral sphincter in the genitogram, we had 2 groups: the low confluence group (N = 14) and the high confluence group (N = 16). The mean confluence depth in the low group was 9.8 mm vs. 20.5 mm in the high group (p-value < 0.001). To find a cutoff point to differentiate low from high groups, we used the values that resulted from dividing the length of the urethra proximal to the confluence over the depth of the bladder neck. By using the ROC curve, the cutoff point was 0.63 mm (< 0.63 mm high, > / = 0.63 mm low) (p-value < .001).ConclusionWe recommend using both cystourethroscopy and genitography for preoperative evaluation. Cystourethroscopy is superior in identifying the abnormal anatomy, but it lacks precision in taking measurements. Genitography can avoid this drawback and can precisely measure the confluence depth, vaginal dimensions, and length of the proximal urethra. We suggest using this formula (length of the urethra proximal to the confluence/depth of bladder neck) to classify persistent UGS as low (> / = 0.63 mm) and high (< 0.63 mm).

Sex Differences in Prognosis of Childhood Arterial Ischemic Stroke: Results From Chinese Pediatric Ischemic Stroke Registry Multicenter Registry

BackgroundCurrent studies on the impact of sex in the prognosis of childhood arterial ischemic stroke (AIS) are limited. We aimed to explore the sex differences in outcomes in patients with childhood AIS. MethodsA retrospective analysis was conducted using the prospective data from the Chinese Pediatric Ischemic Stroke Registry. Baseline characteristics between sexes were compared in the total population cohort, propensity score (PS)-matched cohort, and inverse probability of treatment weighting cohort. Multivariate logistic regression and ordinal regression were used to analyze the association of sex with outcomes. Mixed-effects regression model was applied to further analyze the improvement in pediatric modified Rankin Scale (mRS) scores between sexes from 90 days to one year. Survival analysis was used to estimate the recurrence rates during the follow-up period. ResultsA total of 468 patients were finally included. Multivariate logistic regression showed that there were no significant differences between females and males in achieving favorable outcome (odds ratio [OR] 1.04, 95% confidence interval [CI] 0.63 to 1.72), functional independence (OR 0.98, 95% CI 0.59 to 1.63), or shift to worse pediatric mRS scores (OR 0.83, 95% CI 0.59 to 1.17) at 90-day. Mixed-effects regression and survival analysis indicated that females and males exhibited comparable functional recovery from 90 days to one year and had similar recurrent risk during the follow-up period. ConclusionsThis nationally-representative observational study indicated that both male and female pediatric patients with AIS exhibited comparable similar clinical outcomes at 90 days, as well as similar improvements and risks of recurrence during the follow-up period.

Assessment of the Epworth Sleepiness Scale, Pediatric Sleep Questionnaire, and Mallampati Score in Children With Obstructive Sleep Apnea: An Observational Study

Background and Objective Individuals diagnosed with obstructive sleep apnea (OSA) experience recurrent episodes of breathing cessation due to blockage of the upper airway during sleep. This study aimed to assess the Pediatric Sleep Questionnaire (PSQ) scores, Epworth Sleepiness Scale (ESS) scores, and Mallampati score in pediatric patients with OSA, compared with non-OSA.Methods An observational study was conducted on 100 pediatric female patients aged 9-13 years with retrognathic mandible. The participants were subjected to PSQ, ESS, and Mallampati score to assess the size and shape of the patient’s tongue and esophageal airway. Finally, polysomnographic examination was carried out for all the participants and they were divided into two groups: Group 1 (50 patients) who were diagnosed with OSA by polysomnography and Group 2 (50 patients) consisting of non-OSA patients. Chi-square and Mann–Whitney U test were applied to compare scores between the two groups.Results The mean PSQ, ESS, and Mallampati scores of participants were 0.78 ± 0.45, 9.86 ± 2.47, and 2.27 ± 0.98, respectively in Group 1 and 0.24 ± 0.03, 7.27 ± 2.39, and 1.32 ± 0.57, respectively in Group 2, and this difference was statistically significant (p &lt; 0.05). PSQ, ESS, and Mallampati scores had specificity of 100%, 95.5%, and 72.7%, respectively, whereas the sensitivity was 45.5%, 22.7%, and 63.6%, respectively. ESS scores ≥ 10, PSQ scores ≥ 0.3, and Mallampati scores ≥ 2 were indicative of OSA.Conclusions Patients with OSA having retrognathic mandible had higher PSQ, ESS, and Mallampati scores compared to healthy individuals without OSA. Mallampati score can be satisfactorily used for screening OSA patients.

Laboratory, Clinical, and Para-clinical Symptoms of Children with Covid-19: A Gender-based Cross-Sectional Study

Background Children show milder symptoms of COVID-19 with lower mortality rates. The manifestation of COVID-19 in the pediatric population is an understudied topic. Our aim was to investigate the clinical and para-clinical manifestations of SARS-CoV-2 in children in the Central province of Iran. Materials and Methods We investigated the clinical and para-clinical manifestations of children referred to all hospitals in the Central Province of Iran from March 2019 to June 2020. Results We surveyed 96 pediatric patients hospitalized in hospitals in the Central Province of Iran. The average age of the patients was 110 months. 53% of patients (51 people) were male. The analysis did not show a significant relationship between the laboratory results and the gender of the patients. Conclusion Male and female pediatric patients had the same condition in terms of clinical manifestations, laboratory results and antibiotic use.

P1116 Risk of fractures in children and adults with inflammatory bowel disease: A report from the epi-IIRN

Abstract Background Both adult and pediatric patients with inflammatory bowel disease (IBD) are at risk of osteopenia and osteoporosis, nevertheless, whether patients with IBD are subjected to a higher risk for bone fractures is debated. Thus, we aimed to assess the risk for bone fractures, osteopenia and osteoporosis in IBD vs non-IBD patients, using the epi-Israeli IBD Research Nucleus (IIRN) data. Methods Data of patients with IBD and non-IBD matched controls (approximately 3 non-IBD controls per case) were retrieved from the epi-IIRN cohort (January 2005- June 2020) that maintain data on all patients with IBD from the four Israeli HMOs. Data included demographics, osteoporosis medications, fracture data and IBD related characteristics. Patients were stratified by age group (0-17,18-49, and ≥50). Patients with known osteopenia or osteoporosis before IBD diagnosis were excluded. Results We included 32,263 patients with IBD and 89,423 non-IBD controls [48% female, 56% Crohn’s disease (CD)]. Time to first fracture was significantly shorter in female pediatric patients (p=0.01), in both female (p=0.0004) and male (p=0.003) adult and elderly patients (p&amp;lt;0.0001) (Figure 1). Time to diagnosis of osteopenia/osteoporosis in patients with IBD was significantly shorter in all age groups and genders. Rate of fractures was significantly higher in patients with IBD versus controls for all groups, and rate of osteopenia/osteoporosis was also higher in patients with IBD in all groups (Table 1). In a subgroup analysis, fracture rate did not significantly differ between CD and ulcerative colitis (UC) for all age groups, but osteopenia and osteoporosis were significantly higher in CD compared to UC in all age groups. The hazard ratio for fractures in the pediatric IBD population was 1.02 (0.88-1.16) for males and 1.17(0.95-1.44) for females, in adults 1.08 (0.99-1.16) for males and 1.12 (1.02-1.21) for females, and in the elderly 1.2 (1.08-1.32) for males and 1.19 (1.08-1.31) for females. Arthritis was significantly associated with fracture risk [HR: children 1.47 (1.15-1.88); adults 1.3 (1.17-1.44); elderly 1.19 (1.07-1.30)]. In adults and elderly, older age at diagnosis, chronic obstructive pulmonary disease, diabetes and long-term proton pump inhibitors usage were also associated with a significant increase in fracture risk. Conclusion In this large nationwide cohort, patients with IBD had significantly higher risk for bone fractures than matched controls in almost all age groups, with no difference between CD and UC. Additionally, the rate of osteopenia and osteoporosis was higher in patients with IBD, suggesting that further efforts need to be invested in bone health of this at-risk population.

Clinicopathological molecular characterizations of sinonasal NUT carcinoma: a report of two cases and a literature review.

Nuclear protein in testis (NUT) carcinoma (NC) is a rare, aggressive tumor with a typical NUTM1 gene rearrangement. Herein, we report a series of 2 cases of sinonasal NC: one in a 16-year-old woman and one in a 37-year-old man. Immunohistochemistry (IHC) staining for NUT (C52B1), fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) sequencing were performed to investigate the morphological and genetic features of sinonasal NC. The two cases presented similar pathological features and IHC markers, and typical morphological changes, including undifferentiated cells and abrupt keratinization, were observed, with numerous mitotic figures and widespread tumor necrosis. Diffuse expression of NUT, CK, p63, and p40 was noted, while the tumors were negative for synaptophysin, chromogranin A, S-100, EBV-ISH, and PD-L1. Both tumors harbored a NUTM1 rearrangement. Subsequent sequencing revealed a rare BRD3::NUTM1 fusion and a classic BRD4::NUTM1 fusion. In addition, MCL1 copy number gain (2.1), low tumor mutation burden and stable microsatellites, were also confirmed. Case 1 received surgery and chemoradiotherapy but died 13 months after local recurrence and subsequent lung and bone metastasis. Case 2 underwent chemoradiotherapy and unfortunately died from the disease 6 months later. A review of all previously reported cases of sinonasal NCs (n=55) revealed that these tumors occur more frequently in female pediatric patients (n=11, male: female =3:8), whereas this sex difference is not observed in adult patients (n=44, male: female =23:21). The median survival times of pediatric and adult patients were 17 and 13.8 months, respectively. Sinonasal NC presents typical undifferentiated or poorly differentiated cells, abrupt keratinization features and heterogeneous genotypes, including BRD4::NUTM1 and BRD3::NUTM1 fusions, with low tumor mutation burden and stable microsatellites.

Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: A single-center observational retrospective study

This single-center, observational, retrospective study aimed to evaluate the diagnostic accuracy of pelvic ultrasonographic parameters for detecting central precocious puberty (CPP) in a cohort of female pediatric patients undergoing gonadotropin stimulation tests. The study population consisted of 47 female patients with a suspicion of CPP. Thirty four out of 47 patients (72.34%) were subsequently diagnosed with CPP based on the current laboratory diagnostic criteria (LH peak > 5 IU/L). The ultrasonography results of 39 out of 47 patients (82.97%) were categorized as pubertal, while 31 out of 34 participants (91.17%) in the CPP group exhibited pubertal ultrasonography features. In 13 out of 47 girls (27.65%), a CPP diagnosis was ruled out; however, among these 13 patients, eight exhibited pubertal ultrasonography features suspicious of CPP. We observed a robust concordance between the GnRH test results indicative of pubertal activation and the presence of pubertal pelvic ultrasonographic features in 31 out of 34 children (91.17%). A significant correlation was found between ovarian volume and basal LH and LH/ FSH ratio, and also for basal LH, LH peak, LH/FSH ratio and peak LH/FSH ratio (p = 0.026, p = 0.011, p = 0.031, p = 0.004, respectively). Pelvic ultrasonography had a sensitivity of 91.17% and a specificity of 38.46% in differentiating CPP from premature thelarche.