Common Anomalies Research Articles

Repeated ureterocystoneoimplantation in a 13-year child with recurrent vesicoureteral reflux in both segments of a doubled kidney

Introduction. Doubling of the urinary tract is a common developmental anomaly (0.8–1.0%). With complete doubling, vesicoureteral reflux (VUR) is detected in 66-72%, mainly in the lower segment. The aim of the work is to optimize the surgical treatment of VUR with doubling of the urinary tract by endoluminal plasty of the ureteral mouths and reimplantation of the ureter. Materials and methods. In a 13-year child, a laparoscopic longitudinal intravesical ureterocystoneoimplantation technique was used in conditions of ureteral length deficiency and a proximal intervertebral anastomosis was applied. Results. With the doubling of the urinary tract, a number of patients experience a recurrence of VUR, which determines the need for repeated reconstructive surgery. We present a clinical case of successful surgical treatment of recurrent VUR in both segments of a doubled kidney in a 13-year child. In the treatment, the technique of laparoscopic longitudinal intravesical ureterocystoneoimplantation was successfully applied in conditions of ureteral length deficiency and a proximal intervertebral anastomosis was applied. Conclusion. The performed surgical intervention meets the requirements of efficiency and safety and can be used in conditions of ureteral length deficiency in patients with recurrent VUR after previously performed reconstructive operations.

Comparative study in distal hypospadias repair: a meatal-based flaps technic vs. tubularized incised plate urethroplasty.

Hypospadias is the most common anomaly of the male genital system after undescended testis. More than 200 surgical repair techniques have been described for the treatment of hypospadias due to many different meatus localisations and other accompanying anomalies. Kutlay defined a new technique in 2010 with 10 patients with distal hypospadias patients. We compared this new technique with tubularized incised plate urethroplasty (TIP) which is one of the most frequently performed methods. 148 patients with hypospadias who underwent surgery at the Urology and Pediatric Surgery Clinic during the period of January 2010 to December 2022 in the first and 2nd clinic, were retrospectively analyzed. The study focused on the remaining 83 patients with distal hypospadias for the purpose of comparison. The mean age of group one was 10.0 (± 6.9, range 2-27), while for group two it was 10.8 (± 5.9, range 3-23). There was no statistically significant difference between the two groups in terms of anatomical position of the meatus, stricture and fistula complications (p > 0.5). The Kutlay technique has been described as an easy-to-learn and feasible method with reliable results. No significant difference in complications was observed in this study compared with TIP, which is known as the standard technique worldwide. We would like to suggest that the method be considered for further evaluation with larger patient groups and different techniques.

Parental Ability to Detect Visual or Ocular Anomalies in Their Children

INTRODUCTION: Children typically depend on their parents to seek eyecare. Visual and ocular disorders can be challenging for parents to identify with the absence of apparent symptoms. This may hinder timely clinical diagnosis for children who need treatment. Parental awareness regarding common paediatric eye and vision anomalies along with eye care seeking behaviour has been reported, but there is a lack of studies that demonstrate parental ability to identify a presenting eye or vision disorder in their own children. AIM: This study aimed to determine parental ability to recognise a significant eye problem in their children. METHODS: The study population consisted of beneficiaries of Jaber Al Ahmad Armed Forces Hospital in Kuwait. Structured history and symptoms were taken from parents and comprehensive eye examinations were conducted for their children. Parental responses were compared to the eye test results to attain the study purpose. RESULTS: A total of 188 parental interviews and 188 eye test results data were collected from 137 parents and their children. Only a few parents (18.1%) were able to detect significant visual or ocular anomalies in their children. One-third of the parents (33%) were under the assumption that the visual or ocular status of their children was within the norm, while the eye test results showed that the children had clinically significant issues. Overall, 41.5% of the entire group of parents were wrong in their assumption about the children’s visual or ocular status. CONCLUSION: The findings suggest that a large proportion of parents may not be able to identify a presenting eye disorder in their children. This emphasises the significance of routine eye examinations at an early age.

Prevalence, characteristics and significance of anomalous coronary arteries in adults undergoing cardiac CT scans

Abstract Background/introduction The widespread use of CT coronary angiogram (CTCA) for the evaluation of patients with suspected coronary artery disease has resulted in increased identification of anomalous coronary arteries. These are often incidental findings and their prevalence and significance remains unknown. Purpose To identify the prevalence, characteristics and significance of anomalous coronary arteries in patient undergoing cardiac CT for suspected coronary artery disease. Methods This is a retrospective analysis of all cardiac CT scans (n= 5727 CTCAs) performed at two tertiary centres in the UK from 2015 to 2022. For the purpose of this study, we excluded separate LAD and circumflex artery coronary origins given it is clinical non-significance. Results Eighty three patients (1.45%) were identified as having anomalous coronary arteries. The average age of patients with anomalous coronary arteries was 57 years (range 18 - 86 years) and 36% were female. The most common coronary anomaly was the left circumflex artery arising from the right side (49 patients, 59%) and all had a retroaortic course. This was followed by an anomalous right coronary artery arising from the left side (29 patients, 35%) with 93% of them taking an interarterial course whilst 7% had a subpulmonic course. We also identified an anomalous left main stem (14 patients, 17%) arising from the right side (5 retroaortic, 5 subpulmonic, 2 prepulmonic, 1 anterior and 1 interarterial course). Four patients (5%) had an anomalous LAD arising from the right (2 prepulmonic, 1 subpulmonic and 1 anterior course). Four patients had other coronary anomalies (left circumflex artery arising from right pulmonary artery, OM arising from left ventricle, congenital atresia of left main stem and an ALCAPA). Majority of the patients with an anomalous coronary artery taking an interarterial course underwent a stress test. During a mean follow-up period of 4 years, four patients (5%) underwent cardiac surgery for treatment of anomalous coronary artery (ALCAPA, left main stem atresia and two anomalous right with interarterial course), seven patients underwent cardiac surgery for other reasons (significant atherosclerotic coronary artery disease and/or valve disease), five patients underwent PCI for treatment of atherosclerotic coronary artery disease and two patients died for reasons unrelated to their coronary anomaly. Conclusion This study of a large and unselected cohort of CTCA patients demonstrates an overall prevalence of coronary artery anomalies (as defined above) of 1.45%. We also report the prevalence and characteristics of different coronary anomalies and their outcomes. In the majority of patients, coronary artery anomalies are incidental findings and can be managed conservatively.

Prevalence of Dental Anomalies in Pediatric Patients visiting Tertiary Care Hospital: A Panoramic Radiograph based study

Introduction: Dental anomalies are deviations from the normal development, structure, or appearance of teeth. These anomalies can affect the number, size, shape, position, and structure of teeth. Objective: This study aimed to assess the prevalence of dental anomalies in the pediatric patients visiting Kathmandu University School of Medical Sciences (KUSMS), Dhulikhel Hospital, Nepal. Methods: A descriptive cross-sectional study was conducted at KUSMS, Dhulikhel Hospital. The panoramic radiographs of the pediatric patients between 6 and 14 years of age in the archive of the hospital were assessed for the presence of dental anomalies. Results: Of the total 451 panoramic radiographs meeting the inclusion criteria, 55.9% were male and 44.1% were female. The overall prevalence of dental anomaly was 26.8 % with rotation as the most common anomaly (19.3%) followed by missing (6.7%), supernumerary teeth (4.4%), dilaceration 2.4 %, gemination (1.8%), dens-in-dente (1.1%) and peg shaped (0.9%). Conclusions: The most common dental anomaly among the pediatric patients was rotation followed by missing and supernumerary tooth.

The Analysis of the Fetal Abdominal Wall and Gastrointestinal Tract Abnormalities in a Single Tertiary Center

OBJECTIVE: We aimed to evaluate the fetuses with gastrointestinal anomalies and anterior abdominal wall defects detected in the prenatal period in our clinic and to analyze their perinatal outcomes. STUDY DESIGN: This retrospective study analyzed the data of 67 cases evaluated by the perinatology department of the Basaksehir Cam and Sakura City Hospital between January 2021 and May 2023 with a diagnosis of fetal anterior abdominal wall and gastrointestinal tract abnormalities. RESULTS: A total of 67 cases were included in our study with a mean maternal age of 26.4 ± 3.1 years and a median gestational week of first assessment at our center of 22 weeks (12-39 weeks). The most common anterior abdominal wall malformations were omphalocele (n=29, 43.3%) and gastroschisis (6 cases, 9.0%), and the most common fetal gastrointestinal tract anomalies were duodenal atresia (n=10, 14.9%), dilated bowel (n=5, 7.4%), and intestinal atresia (n=4, 5.9%). While genetic testing was carried out in 18 cases (27%), chromosomal abnormality was found in 6 (9.0%) cases. Termination of pregnancy was performed in 6 cases (9.0%). Postnatally, surgery was performed in 49 cases (73.1%) with a diagnosis of postpartum omphalocele, duodenal atresia, gastroschisis, intestinal and anal atresia. An uneventful surgical course was recorded for 47 cases that underwent surgery. CONCLUSION: The most common abdominal wall defects are omphalocele and gastroschisis, and the most frequent gastrointestinal anomalies are small bowel abnormalities (duodenal atresia, dilated bowel, intestinal atresia) in our study cohort. These abnormalities might be an isolated anomaly or part of a syndrome or associated with chromosomal abnormalities. The prognosis for infants with gastrointestinal malformation depends on the presence of associated anomalies or karyotype anomalies.

Research on Overreaction of CHINA GEM -- Based on Investor Sentiment

Abstract: As countries and regions become more interconnected through the Internet, the impact of infectious public health events is no longer confined to the local area, and it can also spread to other regions through the Internet. The COVID-19 broke out in early 2020 and soon formed a major public health event. Overreaction, one of the common anomalies in the financial market, often occurs after major events, so it is necessary to explore whether there is an overreaction during the epidemic. This paper studies the phenomenon of overreaction in the GEM market in the short, medium and long term. It compares the characteristics of overreaction in the GEM market before and after the epidemic. This paper finds an overreaction phenomenon in China's GEM market before and after the epidemic.

Particularities of spasticity in myelomeningocele patients.

Myelomeningocele (MMC), a congenital neural tube defect, is the most common developmental anomaly of the central nervous system (CNS). Spasticity is among the main disabling factors in these patients, affecting up to 1/5 of children. The purpose of this article is to review the current knowledge regarding spasticity in MMC patients, mainly focusing on its manifestations and management. A literature search was conducted using the PubMed database for the terms "myelomeningocele" and "spasticity." Data were collected by 5 independent investigators and then synthesized in a scoping format. Causes of spasticity in these patients include hydrocephalus, tethered cord syndrome (TCS), syringomyelia, CNS infection, and associated congenital brain and spine anomalies. Clinical manifestations include limb spasticity and neurogenic bladder. Spasticity primarily affects muscles below the neurological level and contributes to gait impairment. Besides walking ability, spasticity also severely affects functional mobility in general, self-care, and quality of life. The majority of MMC patients experience neurogenic bladder. Treatment of spasticity can be symptomatic or target its cause. Medical and surgical options are available for both limb and bladder spasticity. Regular physiotherapy and orthotics are used to prevent contractures and the early introduction of orthoses is the cornerstone of a gait training program. Neurosurgical treatment options for spasticity include nonablative and ablative procedures such as selective dorsal rhizototmy. The urodynamic pattern guides treatment strategies, with intermittent catheterization being the best treatment option for patients with underactive detrusor and overactive sphincter muscles. Given the particularities of spasticity in MMC patients, a multidisciplinary team approach and early rehabilitation programs are keys for their optimal management.

Aberrant right subclavian artery intervention can provide relief of dysphagia.

An aberrant right subclavian artery represents the most common aortic arch vascular anomaly. Conventional wisdom states that these anomalies do not result in dysphagia, but rather serve as "red herrings". Clearly, in the vast majority of cases, this holds true. Nonetheless, one should never say never. Herein, we present a cohort of four children with debilitating dysphagia resulting from an aberrant right subclavian artery. Subclavian reimplantation via a right posterolateral thoracotomy was performed successfully in all cases. Dysphagia resolved postoperatively, and all patients were able to advance to a normal diet. They were able to gain appropriate weight postoperatively and continue to do well at most recent clinical follow-up. This case series suggests that aberrant right subclavian artery anatomy should be considered a potential aetiology of dysphagia, albeit rarely. Surgical intervention for select patients can provide dramatic resolution of symptoms.

Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome.

Down syndrome (DS), a common chromosomal anomaly caused by trisomy of chromosome 21, is characterized by a broad spectrum of phenotypic characteristics across multiple organ systems, including cardiac defects and leukemia. Dermatological findings are prevalent among individuals with DS; however, these issues are frequently underrecognized and inadequately researched, resulting in a significant gap in the provision of comprehensive healthcare strategies. Given the increased life expectancy of patients with DS and delayed manifestation of many dermatoses, physicians are increasingly encountering dermatological findings in this population. This study aimed to assess the prevalence and types of dermatological findings in individuals with DS, compare them with those in a control group, and emphasize the necessity of incorporating dermatological evaluations into routine health monitoring. This prospective cross-sectional study was conducted from June 2023 to June 2024 and involved 100 genetically confirmed individuals with DS and 100 age- and sex-matched controls. Comprehensive demographic, clinical, and karyotype data were collected for the DS group, and all the participants underwent detailed morphological evaluations. The DS group had a mean age of approximately 6.37 years, whereas the controls were around 7 years old, with no significant differences in age or sex distribution between the groups. Karyotype analysis showed that trisomy 21 was present in 92% of the cases, mosaicism in 6%, and translocation in 2%. Common dermatological findings in the DS group included xerosis cutis (49%), thin and sparse hair (48%), dental caries (34%), delayed tooth eruption (28%), nail dystrophy (25%), fissured tongue (23%), and cheilitis (18%). Significant differences were noted in the prevalence of scabies, bacterial infections, and café au lait macules between the DS and control groups (p < 0.01). Dysmorphic findings in the DS group included epicanthal folds (97%), upslanted palpebral fissures (97%), brachycephaly (91%), and single transverse palmar crease (89%). Significant gender differences were noted in the prevalence of brachycephaly and the sandal gap (p < 0.01). This study highlights the importance of regular dermatological care in enhancing the health management and quality of life of individuals with DS due to the prevalence and variability of dermatological conditions.

Ocular disorders and compliance to protective eyewear among quarry workers in Akamkpa local government area of cross river state, Nigeria

The quarry industry over time has played a pivotal role in the transformation of the physical environment but with attendant negative effects on workers. This study ascertained the pattern of work related ocular disorders and compliance to protective eye devices among quarry workers in Akamkpa LGA, Cross River State Nigeria. This descriptive cross sectional study employed the use of a structured interview followed by a comprehensive external examination of the eyes of the subjects by qualified eye care practitioners. Data generated was analysed using the Statistical Product for Service Solution (SPSS) version 25.0. Results were presented descriptively using tables and figures. The study took place in 8 quarry sites located in 4 communities randomly selected and involved 184 subjects randomly selected comprising of 140 (76.09%) males and 44 (23.91%) females. The age of the participants ranged from 18-60 years with a mean age of 32.03±2.23 (SD). The study revealed that predominant ocular symptoms experienced were blurry vision (31.5%), itchy eyes (27.94%), ocular irritation/ grittiness (15.55%), eye/ headaches (12.46%) and discharges (9.61%). The most common ocular surface anomalies observed were pterygium (41.80%), corneal scar/ ulceration (18.03%) and allergic conjunctivitis (16.39%), while the most frequent type of eye injuries reported were superficial foreign bodies, blunt trauma and superficial ocular abrasion accounting for 50.92%,30.06% and 11.04% respectively. Injuries due to quarrying activities were more common among labourers (41.10% and 29.45% among stone crushers and stone processors respectively), while workers with less than 5 years work experience reported more work related eye injury (74.85%) with broken stones (80.39%) accounting for most of the injuries. Similarly, a majority (94.7%) of the participants had knowledge of Personal Protective Eye Devices (PPEDs) only 26.44% had the appropriate PPEDs and just 30.43% of them complied regularly with their usage during work. There was a statistically significant association between work experience and the occurrence of work related ocular injuries (p&gt;0.001) but the use of PPEDs has no statistically significant association with the occurrence of eye injuries. The study concluded that workers at the Akamkpa quarry, Nigeria suffered various types of work related ocular anomalies and while a majority of them had prior knowledge of the benefits of PPEDs, the level of availability and utilization is relatively low and recommended health education and strict enforcement of safety regulations.

Alterations of senescence-associated markers in patients with non-syndromic cleft lip and palate

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial anomalies. Abnormal Alu methylation in DNA of the pregnant mother may influence the abnormal development of the child. This study aimed to examine Alu methylation and cellular senescence in NSCL/P patients and their mothers as well as the correlation with the severity of NSCL/P. A total of 39 patients with NSCL/P and 33 mothers were enrolled. Of these patients, 6 were cleft lip only (CLO), 9 were cleft palate only (CPO), and 24 were cleft lip and palate (CLP). Alu methylation and senescence markers were determined in the white blood cells of NSCL/P patients, their mothers, and in the lip and palatal tissues of patients at the time of cheiloplasty and palatoplasty. Total Alu methylation was not significantly different between groups. However, a decrease in Alu hypermethylation, increased partial Alu methylation, RAGE, and p16 expression were shown in CLP, the most severe cleft type. Alu methylation in tissues did not differ between groups. In mothers, an increase in Alu methylation was observed only in the CLP. Therefore, the pathogenesis of NSCL/P may be related to Alu methylation of the mother promoting loss of Alu methylation and subsequently senescence in the children.

DApps ecosystems: mapping the network structure of smart contract interactions

Decentralized applications (DApps) built on blockchain platforms such as Ethereum and coded in languages such as Solidity, have recently gained attention for their potential to disrupt traditional centralized systems. Despite their rapid adoption, limited research has been conducted to understand the underlying code structure of these applications. In particular, each DApp is composed of multiple smart contracts, each containing a number of functions that can be called to trigger a specific event, e.g., a token transfer. In this paper, we reconstruct and analyse the network of contracts and functions calls within the DApp, which is helpful to unveil vulnerabilities that can be exploited by malicious attackers. We show how decentralization is architecturally implemented, identifying common development patterns and anomalies that could influence the system’s robustness and efficiency. We find a consistent network structure characterized by modular, self-sufficient contracts and a complex web of function interactions, indicating common coding practices across the blockchain community. Critically, a small number of key functions within each DApp play a central role in maintaining network connectivity, making them potential targets for cyber attacks and highlighting the need for robust security measures.

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

External Ear Malformations (EEM) continue to be a common malformation seen in the pediatric patient population. This study aims to further elucidate the correlation between EEM and cardiac and renal anomalies. A systematic review and meta-analysis to study the incidence of cardiac and renal anomalies associated with syndromic and isolated (EEM). The literature search spanned multiple databases, including Google Scholar, PubMed, Scopus, Web of Science, and MEDLINE. Studies must be focused on EEM and cardiac and/or renal anomalies. Only articles written in English were included. General study characteristics, number of EEM patients, number of cardiac and renal anomalies and whether cases were syndromic were extracted from the studies. Of 1,058 initial studies, 33 were included for meta-analyses. Mean JBI score for all included studies was 92.06%, indicating acceptable study quality. Interrater reliability was high, with a Cohen kappa score for all studies of 0.94. The resulting pooled prevalence of cardiac abnormalities was 20% [95% CI:13-28%], while renal abnormalities were 13% [95% CI: 7-20%]. The most common anomalies were VSD (3.725%) and renal agenesis (2.04%). The presence of syndrome data across studies was not a significant modifier of prevalence rates. Primary limitation is due to heterogeneity in individual study methodology and reporting standards. These results highlight a higher prevalence of cardiac-related conditions than renal anomalies in patients with both syndromic and non-syndromic EEM in the included studies, underscoring the need for thorough clinical evaluations.

Association of Cardiac Anomalies in Pediatric Dextrocardia: A CT Angiographic Study

Background: Dextrocardia is an intrinsic cardiac malposition where the base-apex axis is oriented toward the right side. Diagnosing these abnormalities is crucial for the appropriate treatment of associated anomalies. Advances in CT angiography techniques have enabled a comprehensive study of cardiovascular structures. Objectives: This study aims to identify the association of cardiac anomalies in various types of dextrocardia. Methods: Patients with a confirmed diagnosis of dextrocardia who underwent contrast-enhanced cardiac CT angiography were included in the study. All patients had previously undergone echocardiography with equivocal findings. The type of dextrocardia (based on the Arcilla and Gasul classification), along with septal, atrial, ventricular, aortic, pulmonary artery and vein, systemic veins, and non-cardiac anomalies, were evaluated. Results: Thirty-five cases of dextrocardia (18 males and 17 females) were included in this study, with a mean patient age of 24 months. Among these, 23 cases were classified as type 3, 8 as type 1, and 4 as type 2. The most common anomalies across all types were septal defects, with ventricular septal defects being the most prevalent in type 1, while atrioventricular septal defects (AVSD) were the most common in types 2 and 3. In type 3, left transposition of the great arteries (L-TGA), right isomerism, and AVSD were significantly more frequent, occurring concurrently in 65.2% of patients. Additionally, more than 50% of the cases had a concomitant pulmonary artery anomaly. Conclusions: A correlation may exist between the occurrence of AVSD, L-TGA, right isomerism, and pulmonary artery anomalies in type 3 dextrocardia.

Cleft lip and palate surgery in the Otolaryngology and Head-neck surgery department of a Medical College Hospital in Bangladesh

Background: Cleft lip and palate (CLP) are one of the most common developmental anomalies in orofacial region. CLP surgery lies in the anatomical domain of Ear Nose Throat and Head - Neck Surgery. In Bangladesh specialty of plastic surgery is still in developing stage and plastic surgeons are not easily available everywhere. ENT and Head-Neck surgeon had to take up the responsibility of some of cleft patients. This article is a retrospective analysis of a series of 200 cases of cheiloplasty and palatoplasty done in ENT and Head-Neck Surgery department of Khulna City Medical College Hospital, Bangladesh. Results were satisfactory in our, patient and parent's consideration. Objective: Our aim is to discuss the demographic profile, presentations, degree &amp; type of cleft and outcome of CLP surgery in Otolaryngology and Head-Neck Surgery department of a Medical College Hospital of Bangladesh. We will also discuss the embryology of face &amp; historical background of the cleft surgery. Materials and Methods: This is a retrospective analysis of CLP surgery for 200 cleft patients. We based on inclusion and exclusion criteria for selection of patients. Majority of cleft lip patients were operated following the Millard modified rotation advancement technique and isolated cleft palate patients were operated following Von Langenbeck bipedicle flap and Veau-Wardil-Kilner V-Y pushback technique in the ENT and Head-Neck Surgery Department of a Medical College Hospital. Patients were advised for periodic follow up. Results: Total of 200 patients of CLP were operated in our department out of which male was 92 (46%) and female was108 (54%)), male and female ratio being 1:1.08. The age range was 3 months to 40 years with a mean of 8.38 years. Pre alveolar group both male and female comprised of 134 (67%) and alveolar group 66 (33%) patients and that of isolated cleft palate 7 (10.60%) patients. Pre alveolar unilateral CLP was high. The results of surgery were satisfactory in our postoperative evaluation. Patients and parents were also satisfied with the outcome. Conclusion: Majority of CLP patients don’t suffer functional problem apart from facial disfigurement. Restoration of normal anatomy, facial appearance and function can be achieved by surgery in appropriate time and age. Few cases may be associated with feeding difficulties, dental and hearing problems. Some cases are associated with other congenital anomalies and syndromes. Those cases demand team approach of different specialty.

ECAD study: Evaluating agreement degree among paediatricians in hip dysplasia assessment by the Graf ultrasound method.

Developmental dysplasia of the hip (DDH) is the most common musculoskeletal anomaly of childhood. This study analyses paediatrician's concordance performing hip ultrasound according to Graf's method. An analytical cross-sectional study is designed. Patients' hips are evaluated by Graf's ultrasound method at 4-6 and 12-16weeks of age. Demographic characteristics, pregnancy history, factors related to DDH, hip type, and α and β angles are collected. To assess the agreement degree of hip diagnosis and hip types Kappa index (I. kappa) is used. Intraclass correlation coefficient (ICC) evaluates the concordance of α and β angles. A p value < 0.05 is considered statistically significant. All results are represented with their 95% confidence interval (95% CI). Four hundred sixty-seven neonates are recruited and meet the inclusion criteria. A total of 3182 images were analysed. Agreement between paediatricians according to hip diagnosis and different types ranges from moderate to almost perfect I. kappa 0.6-1.0 (95% CI 0.5-0.7; 95% CI 1.0-1.0). α angle ICC for paediatricians is between 0.75 and 0.88 (95% CI 0.61-0.86; 95% CI 0.80-0.92). β angle value agreement degree among paediatricians at both visits is moderate. The Graf method is the most popular ultrasound technique for hip assessment. In our setting, paediatricians carry out children follow-up; therefore, they should perform universal screening. In this study agreement degree between paediatricians varies between substantial and almost perfect. Conclusion: The Graf ultrasound procedure performed by paediatricians is a reliable test and can be used for DDH screening. What is Known •Developmental dysplasia of the hip (DDH) is the most common congenital musculoskeletal anomaly of childhood. Early diagnosis and treatment improve DDH prognosis. Lack of detection can cause complications such as lameness, early osteoarthritis and need for hip replacement at an early age. What is New •Today, the best screening method is still subject of debate. But it seems that with selective screening many pathological hips go unnoticed. Universal screening implementation may be a challenge in some countries. But the question is if this could be carried out by paediatricians as part of healthy child follow-up.

Circumflex left aortic arch: a new vascular ring anomaly in dogs.

To describe the circumflex left aortic arch as a new form of canine congenital vascular ring anomaly leading to esophageal constriction. 3 large-breed dogs of variable age: a 9-month-old entire male German Shepherd Dog-Rottweiler cross, a 17-week-old entire male German Shepherd Dog, and a 9-year-old neutered female Labrador Retriever, seen between April 2022 and May 2023. Dogs presented for chronic postprandial regurgitation and poor growth. One dog presented for a hard mass on the caudal mandibular region. Computed tomography revealed a normal leftward-oriented cranial half and an abnormal caudal half of the aortic arch crossing toward the right dorsal hemithorax leading to esophageal constriction in all dogs. In addition, 1 dog presented with a right patent ductus arteriosus and 1 with an aberrant right subclavian artery. Circumflex left aortic arch is a newly discovered rare type of congenital vascular ring anomaly in dogs, which presents a similar anatomical derangement to the human form. Clinical signs include postprandial regurgitation and poor growth. Circumflex left aortic arch vascular anomaly cannot be surgically corrected via the left thoracotomy that is commonly used for the more common vascular ring anomalies in dogs. Computed tomography is a useful diagnostic modality for the diagnosis of this condition, detection of concomitant congenital vascular malformations, evaluation of associated pathologies, and surgical planning.

Molecular analysis of 31 cases with fetal skeletal dysplasia.

The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.

Identification of urological anomalies associated with anorectal malformation in southwestern Uganda: Limitations and opportunities

Anorectal malformations (ARMs) may be associated with congenital anomalies affecting other body parts namely vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb (VACTERL) with varying incidences of 7%-60% . Genitourinary defects might occur approximately in 50% of all patients with anorectal malformations hence patients should be evaluated from birth to rule out these defects. To identify urological anomalies associated with anorectal malformation in southwestern Uganda. This was a descriptive retrospective cohort study conducted at our regional referral hospital in Southwestern Uganda involving patients who have undergone surgical correction of ARMs between June 2021 and July 2023. The overall prevalence of renal anomalies in our study patient population was 18.05%. Of those with ARM-associated renal anomalies, Specific anomalies included; renal agenesis (6.8%), hydronephrosis, (4.5%), duplex collecting system (3.8%), crossed fused kidney (1.5%), and ectopic kidney (0.75%). (Table) DISCUSSION: We found that the prevalence of ARM-associated renal anomalies was 18.05%, and the commonest anomaly was unilateral agenesis (6.8%) similar to other studies. Previous data have shown renal anomalies are common anomalies in ARM. While the exact values vary across studies, they all concluded that the rate of associated anomalies is extremely high in ARMs and warrants a thorough preoperative investigation once the ARMs are detected. This finding therefore underscores the importance of thorough evaluation and a multidisciplinary approach of care and follow-up system for ARM management including urologists even when the children are asymptomatic now. The main limitation of our study was missing information on patients' charts, we were not able to get the diagnosis since most patients didn't have their discharge forms at the time of evaluation. ARM associated with renal anomalies may remain undiagnosed and asymptomatic. Those identified as asymptomatic need to be followed in a multidisciplinary fashion including pediatric urologists.