Common Anomalies Research Articles

Demographic and clinical characteristics of central nervous system congenital anomalies: A one year review of cases managed at UDUTH Sokoto

Background: The spectrum of CNS congenital anomalies varies from one geographical location to another across the globe. This essentially can be solitary or multiple and can be cranial, spinal, combination of both cranial and spinal or others. The understanding of their distribution in each location could determine local workforce and facility needs and as well guide in the areas of sub specialization. Objective: The aim of this study is to document the pattern of CNS congenital anomalies cases that had surgical intervention, at the Usmanu Danfodiyo University Teaching Hospital, Sokoto. Methods: A cross-sectional, retrospective hospital based study from January, 2021 to December, 2021 of all patients with CNS congenital anomalies who had surgical intervention at the Neurosurgery Department, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. Results: A total of 49 cases presented to our facility and had surgical interventions for central nervous system congenital anomaly. Of those 49 cases with CNS Congenital anomalies, there were 25 (51.0%) males and 24(48.98%) females, with a male-to-female ratio of 1.04: 1. The median age was 185 days, with age range of 2– 364days. Overall, the most commonly diagnosed neurosurgical CNS congenital anomalies in order of decreasing frequency were Congenital hydrocephalus 20 (40.82%), Myelomeningocele 14 (28.57%), Encephalocele 10 (20.41%), combination of Hydrocephalus associated with myelomeningocele 8(16.33%), Meningocele 3(6.12%), Lipomeningocele 1( 2.00%), Dandy walker malformation 1( 2.00%) , and Dandy variant1(2.00%) . Conclusions: NTDs (Myelomeningocele, Meningocele and lipomeningocele) were the most common CNS anomalies (55.10%). However, congenital hydrocephalus, Myelomeningocele, Encephalocele, Hydrocephalus + MM, and Meningocele are common in our environment in decreasing frequency. Though, Lipomeningocele, Dandy walker malformation and dandy variant are relatively rare. Understanding of this distribution may guide service expansion and workforce needs, inspire sub specialization as well as direct research and government policy in this community.

The genetic basis of hypodontia in dental development.

Dental agenesis is one of the most common developmental anomalies in humans, characterised by the developmental absence of one or more teeth. It can present as an isolated condition (non-syndromic hypodontia) or associated with a syndrome (syndromic hypodontia). This paper aims to review the genetic basis of hypodontia with reference to aetiology, classification and the subsequent clinical features.Significant progress has been made to identify the developmental basis of tooth formation, though there is still a lack of knowledge within the literature of the aetiological basis of inherited tooth loss.Gene anomalies or mutations in WNT10A, MSX1, PAX9, AXIN2 and EDA appear to be most critical during tooth development, leading to various forms of tooth agenesis.

FGFR1 variants contributed to families with tooth agenesis

BackgroundTooth agenesis is a common dental anomaly that can substantially affect both the ability to chew and the esthetic appearance of patients. This study aims to identify possible genetic factors that underlie various forms of tooth agenesis and to investigate the possible molecular mechanisms through which human dental pulp stem cells may play a role in this condition.ResultsUsing whole-exome sequencing of a Han Chinese family with non-syndromic tooth agenesis, a rare mutation in FGFR1 (NM_001174063.2: c.103G > A, p.Gly35Arg) was identified as causative and confirmed by Sanger sequencing. Via GeneMatcher, another family with a known variant (NM_001174063.2: c.1859G > A, p.Arg620Gln) was identified and diagnosed with tooth agenesis and a rare genetic disorder with considerable intrafamilial variability. Fgfr1 is enriched in the ectoderm during early embryonic development of mice and showed sustained low expression during normal embryonic development of Xenopus laevis frogs. Functional studies of the highly conserved missense variant c.103G > A showed deleterious effects. FGFR1 (c.103G > A) was overexpressed compared to wildtype and promoted proliferation while inhibiting apoptosis in HEK293 and human dental pulp stem cells. Moreover, the c.103G > A variant was found to suppress the epithelial-mesenchymal transition. The variant could downregulate ID4 expression and deactivate the TGF-beta signaling pathway by promoting the expression of SMAD6 and SMAD7.ConclusionOur research broadens the mutation spectrum associated with tooth agenesis and enhances understanding of the underlying disease mechanisms of this condition.

Exploring the healthcare needs and experiences of pregnant women with congenital heart disease: A qualitative study

ProblemLittle is known regarding the healthcare needs and experiences of pregnant women with congenital heart disease (CHD) during pregnancy. BackgroundCongenital heart diseases are the most common birth anomalies, and they embrace a wide range of defects ranging from mild to complex and life-threatening defects. Pregnancy carries many physiological and psychological changes that affect pregnant woman with CHD and need special attention and consideration. AimTo explore the healthcare needs and experiences of Jordanian women with CHD during pregnancy. MethodsA descriptive phenomenological design was used. Utilising purposive sampling, 15 participants were recruited. Data was collected using individualised semi-structured interviews. Interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi's method. FindingsThree themes were identified: a) A broad spectrum of health needs during pregnancy, b) not being cared for, c) and the healthcare journey: Challenges and recommendations. Findings revealed that pregnancy in women with CHD is associated with many challenges and needs, and the lived healthcare experiences are mostly negative. DiscussionThis study addresses the healthcare needs and experiences of pregnant women with CHD during pregnancy. Our findings shed light on healthcare needs explored hidden aspects of the experiences of this vulnerable population and gave them the chance to make their voices heard. ConclusionThe study concluded that pregnant women with CHD experience hardship associated with negative challenges and personal suffering. The findings highlight the importance of the basic values and the need for a holistic approach and effective teamwork to minimise suffering among pregnant women with CHD

Trends in congenital clubfoot prevalence and co-occurring anomalies during 1994–2021 in Denmark: a nationwide register-based study

BackgroundCongenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994–2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance.MethodsThis case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994–2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources.ResultsInfants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45–1.58) for isolated and 0.19 (CI 0.17–0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates.ConclusionsFrom 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance.

The Diagnostic Efficacy of and Requirement for Postnatal Ultrasonography Screening for Congenital Anomalies of the Kidney and Urinary Tract.

We aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies of the kidneys and urinary tract. In this retrospective cohort study, we reviewed the records of term infants between six weeks and three months of age who underwent urinary tract ultrasonography during routine pediatric care. Congenital anomalies of the kidneys and urinary tract were detected on prenatal ultrasonography in 75 of the 2620 patients included in the study. Congenital anomalies of the kidneys and urinary tract were detected via postnatal USG in 46 (1.8%) of 2554 patients without anomalies on prenatal USG screening. The most common anomaly was hydronephrosis (69.6%). Thirty-two cases of hydronephrosis, three cases of renal agenesis, four cases of horseshoe kidney, one case of MCDK, and two cases of duplex systems which were not detected on prenatal USG were detected on postnatal USG. On the other hand, 29 (1.1%) cases with mild or moderate hydronephrosis on prenatal ultrasonography did not have hydronephrosis on postnatal ultrasonography. In our study, approximately one-third of the cases of hydronephrosis, unilateral renal agenesis, duplex systems, horseshoe kidney, and ectopic kidney were not detected in prenatal ultrasonography screening. Therefore, we believe that in addition to prenatal ultrasonography screening, postnatal ultrasonography screening of all children for urinary tract anomalies would be beneficial.

The possibilities of modern radiological modalities in aortic coarctation diagnosis and preoperative planning in infants and young age group children

Objective. Evaluation of diagnostic value of modern imaging modalities: trans-thoracic echocardiography (TTE), CT-angiography (CTA) and cardio-MRI in diagnosis and preoperative planning of aortic coarctation correction (CoA) in in infants and young age group children.Materials and methods. 101 pediatric patients (aged 0 to 5 years) with CoA underwent TTE, 98 of them underwent CT, 30 – cardio MRI. On TTE, CTA and cardio-MRI aorta morphometry was performed. The most common anomalies associated with CoA (ventricular septal defect (VSD), patent ductus arteriosus (PDA), aberrant right subclavian artery (ARSA), hypoplastic arch and brachiocephalic vessels anomalies) were assessed.Results. The overall diagnostic accuracy of TTE, CT and cardiac-MRI in diagnosis of CoA were 89.1%, 95.9%, 86.7% respectively. There was no significant difference in the accuracy in detecting CoA between TTE, CT and MRI (p > 0.05). The accuracy of TTE in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 84%, 93% and 85.3%, respectively. The accuracy of CT in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 100%, 100% and 98% and cardio-MRI: 97.1%, 98.4% and 96.8%, respectively.Conclusion. TTE is a widely available and safe method, it has a high diagnostic value in determining CoA. Due to limitations in visualization of all parts of the aortic arch and the detection of concomitant anomalies, TTE cannot be the final method in planning the CoA correction. CT and MRI of the heart, as a TTE, are effective methods in the diagnosis of CoA, however, in the assessment of extracardiac anomalies, they equally show a significantly more accurate result.Taking into account the difficulties in conducting MRI of the heart in children under one year and younger age group, the need for a longer stay in anesthesia, the lack of additional diagnostically significant information in comparison with CT of the heart, cardio-MRI is not the method of choice in the primary diagnosis and preoperative planning of correction of CoA in children under one year and younger age group requiring the use of an anesthetic aid for the duration of the scan. Cardio-MRI may be the method of choice in preoperative planning of CoA in small children with absolute contraindications to the radiocontrast agent.

KNOWLEDGE REGARDING THE PRENATAL TESTING FOR DOWN SYNDROME SCREENING AMONG THE NEPALESE PREGNANT WOMEN

Background: Down syndrome is one of the common chromosomal anomalies present at birth which can be detected prenatally. It is associated with number of congenital birth defects, distinct facial appearance, intellectual disability and developmental delay. So, mother can be given option whether to continue pregnancy or to terminate. Very few studies have been carried out in our settings to assessed the knowledge regarding down syndrome screening. The aim of the study is to find the knowledge of prenatal testing for down syndrome screening among the Nepalese pregnant women. Methods: This was a descriptive cross-sectional study which was carried out from 1st Feb 2022 to 30th April 2022. All pregnant women coming for routine antenatal checkup between 11-13 weeks in Obstetric and Gynecology Out Patient department were taken as study population. A self-structured questionnaire was made and data was collected. Response of the participants knowledge was evaluated. Results: Out of 257 participants, fifty-three percent participants had knowledge regarding prenatal testing for Down syndrome screening. Sixty five percent people states that ultrasound alone can rule out Down syndrome. Only Twenty eight percent participants had knowledge that it is a chromosomal anomaly associated with physical and mental disability Conclusions: Pregnant women have poor knowledge on prenatal screening and Down syndrome. So adequate knowledge regarding Down syndrome and its screening should be provided.

Unmasking the Hidden Threat of Cardiac Involvement in Dengue Fever: A Critical Longitudinal Study.

Dengue fever (DF) arises from the dengue virus (DENV), a common viral illness transmitted by arthropods. This medical condition has the potential to result in severe complications, including but not limited to liver failure, disseminated intravascular coagulation, dengue encephalopathy, myocarditis, acute renal failure, and hemolytic uremic syndrome. Evaluating cardiac manifestations in dengue is crucial for timely intervention and intensive care to save patients' lives. A longitudinal study involved 104 dengue fever patients admitted to the Department of Medicine at New Civil Hospital, Surat, between May 2021 and October 2021, to identify potential cardiac involvement. The study found that out of the 104 patients, 28 (26.92%) showed cardiac involvement based on clinical manifestations. Among these patients, 28 (26.92%) exhibited abnormal ECG results, and 39 (37.50%) showed elevated creatine kinase-MB (CK-MB) levels. Of the 28 patients who showed ECG changes, 14 (50%) displayed abnormal 2D-echocardiography (ECHO) results. The most common electrocardiographic anomaly was a T-wave inversion in V1-V4. The predominant 2D-ECHO finding was mild pericardial effusion. Cardiac involvement in dengue presents atypically and can lead to conditions like myocarditis, arrhythmias, cardiac failure, or shock. Assessing cardiac manifestations in dengue patients is pivotal for appropriate management.

Design and validation of depth camera-based static posture assessment system

Postural abnormalities have become a prevalent issue affecting individuals of all ages, resulting in a diminished quality of life. Easy-use and reliable posture assessment tools can aid in screening for and correcting posture deviation at an early stage. In this study, we present a depth camera-based static posture assessment system to screen for common postural anomalies such as uneven shoulders, pelvic tilt, bowlegs and knock-knees, forward head, scoliosis, and shoulder blade inclination. The system consists of an Azure Kinect camera, a laptop, and evaluation software. Our system accurately measures skeleton and posture indexes and shows favorable agreement with a golden standard optical infrared motion capture system. The findings indicate that the system is a low-cost posture assessment tool with high precision and accuracy, suitable for initial screening of postural abnormalities in individuals of all ages.

Pink and white esthetic management of peg laterals – A case report

Introduction: A set of evenly shaped anterior teeth and good soft tissue (pink) to tooth (white) ratio makes a harmonious and pleasing smile. Peg lateral is one of the most common morphological anomalies in the Indian population with an incidence of 9.14% has been recorded. Case Summary: Minimally invasive bonded restorations were planned to transform the smile of a 36-year-old male patient, who presented with peg laterals causing a dissatisfied smile. A pleasing smile was achieved with smile designing, use of LASERs and ceramic veneers. Ceramics veneers have a 20 year long tested clinical survival rate of 91.73%. Conclusion: Minimal preparation ceramic veneers can be the ideal conservative management for diastema caused due to morphological aberrations when case selection is done meticulously.

Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

The results of karyotype analysis and 22q11.2 ( DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies 
 Objective: We aimed to determine the presence of accompanying chromosomal anomalies and 22q11.2 deletion in patients with cardiac system anomalies.
 Material and Methods: In our retrospective and cross-sectional study, 99 fetuses born with cardiac anomalies were evaluated in terms of chromosomal anomalies. 36 fetuses were evaluated for 22q11.2 deletion. Fetuses who were diagnosed with prenatal congenital heart defect and underwent invasive prenatal diagnostic tests for fetal karyotyping between 01.01.2010 and 30.06.2017 at a tertiary cancer center were included in the study.
 Results: Of 99 cases, 48 (48.4%) had only cardiac anomalies and 51 (51.5%) had non-cardiac anomalies. Chromosomal anomalies were found in 37 (37.4%) of the cases. Autosomal trisomy 18(43.2%) and autosomal trisomy 21(32.4%) were the most common chromosomal anomalies. The study results support the strong association of chromosomal changes and cardiac malformation, especially in septal defects, atrioventricular septal defects, and conotruncal malformations. Deletion was detected in one(2.8%) of 36 cases evaluated for 22q11.2 deletion. The fetus with this deletion had isolated tetralogy of fallot and had no extracardiac anomaly.
 Conclusion: In cases with cardiac anomalies, isolated or accompanied by extracardiac anomalies, investigations should be made in terms of underlying chromosomal diseases in the perinatal evaluation. In addition, the investigation of 22q11.2 deletion in fetuses with conotruncal cardiac anomalies should be included in prenatal genetic examination.
 Keywords: DiGeorge Syndrome, Fetal Anomalies, karyotype, trisomy, 22q11.2 Deletion Syndrome

Prevalence of congenital anomalies and related factors in live births in Zahedan, Southeast of Iran: A cross-sectional study.

The term congenital anomalies (CAs) refers to structural or functional abnormalities at the time of conception. Approximately 12 deaths related to congenital disabilities occur in every 10,000 babies born. This study aimed to evaluate the prevalence and associated factors of single and multiple CAs in live births in Zahedan, Southeast Iran. This cross-sectional study was conducted on 59,087 live births in a referral hospital in Zahedan located in the southeast of Iran from 2009 to 2019. All live births were examined by pediatricians and the CAs and categorized based on the international classification of diseases. Of 59,085 live births, at least 883 had a significant anomaly, and the prevalence rate of CAs was about 149 per 10,000. Anomalies of the nervous (24.1%) and cardiovascular systems (21.10%) were the most frequent, occurring in 213 and 187 of the live births, respectively. Spina bifida is the most common anomaly of the central nervous system. The most common anomalies in the cardiovascular system were unspecified heart malformations (17.1%), cardiovascular malformations (18.7%), and patent ductus arteriosus (11.7%). Significant correlations were found between the parent's consanguinity marriage, the mother's age, an existing anomaly in the family, and relatives in single and multiple CAs (p = 0.02, p = 0.02, p 0.001, p = 0.01, respectively). The prevalence of CAs was 149 per 10,000 live births. The highest prevalence of CAs was related to the central nervous system. Increasing the public's knowledge about fetal defects can reduce the prevalence of CAs.

Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center

Background: Our multidisciplinary team (MDT) is a large specialized team based in Semarang, Indonesia, that cares for a wide variety of pediatric and adult individuals with differences of sex development (DSD) from across Indonesia. Here, we describe our work over the last 17 years. Methods: We analyzed phenotypic, hormonal, and genetic findings from clinical records for all patients referred to our MDT during the period 2004–2020. Results: Among 1,184 DSD patients, 10% had sex chromosome DSD, 67% had 46,XY DSD, and 23% had 46,XX DSD. The most common sex chromosome anomaly was Turner syndrome (45,X) (55 cases). For patients with 46,XY DSD under-masculinization was the most common diagnosis (311 cases), and for 46,XX DSD, a defect of Müllerian development was most common (131 cases) followed by congenital adrenal hyperplasia (CAH) (116 cases). Sanger sequencing, MLPA, and targeted gene sequencing of 257 patients with 46,XY DSD found likely causative variants in 21% (55 cases), with 13 diagnostic genes implicated. The most affected gene codes for the androgen receptor. Molecular analysis identified a diagnosis for 69 of 116 patients with CAH, with 62 carrying variants in CYP21A2 including four novel variants, and 7 patients carrying variants in CYP11B1. In many cases, these genetic diagnoses influenced the clinical management of patients and their families. Conclusions: Our work has highlighted the occurrence of different DSDs in Indonesia. By applying sequencing technologies as part of our clinical care, we have delivered a number of genetic diagnoses and identified novel pathogenic variants in some genes, which may be clinically specific to Indonesia. Genetics can inform many aspects of DSD clinical management, and while many of our patients remain undiagnosed, we hope that future testing may provide answers for even more.

A possible manifestation of pancreas divisum–pancreatic pseudocyst in an infant with no apparent history of pancreatitis: a case report

BackgroundPancreas divisum (PD), the most common pancreatic anomaly, is caused by the failure of pancreatic bud fusion in the embryo. Although most cases are asymptomatic, it can cause pancreatitis or epigastric pain. We report an unusual case of PD in an infant.Case presentationThe patient was a 9-month-old girl with no pertinent medical history. She had suffered vomiting and diarrhea for 1 week before transfer to our hospital. Her general condition was poor, and abdominal distention was noted. Blood tests revealed microcytic anemia with normal chemical markers. The parents reported no episode of pancreatitis. Ultrasonography revealed massive ascites, which was later found to be bloody. Enhanced computed tomography and magnetic resonance imaging depicted a cystic lesion, approximately 2 cm in size, anterior to the second portion of the duodenum. During exploratory laparotomy, a pinhole was identified on the cyst wall, which was mistakenly identified as a duodenal perforation, and direct closure was performed. Postoperative levels of serum amylase and inflammation markers were elevated, and the amount of ascites increased, impairing oral feeding. The level of pancreatic enzymes in the ascites was high. Imaging studies were repeated, but the cause of pancreatic fistula was not identified. Conservative therapy, including administration of total parenteral nutrition, antibiotics, and octreotide, was initiated, but the situation did not improve. Three months after admission, endoscopic retrograde cholangiopancreatography showed a thick dorsal pancreatic duct communicating with a hypoplastic ventral duct, which was indicative of PD. Contrast medium leaking from the dorsal duct near the minor ampulla revealed the presence of a pseudocyst. Stenting via the minor papilla was impossible because the minor papilla was obstructed. Instead, a stent was inserted into the ventral pancreatic duct. Endoscopic transgastric drainage of the cyst was effective, and the patient was discharged, 7 months after admission. The patient is healthy, but the gastric stent needs to be replaced regularly.ConclusionIn children, PD can manifest with pancreatic pseudocyst that causes pancreatic ascites, even in the absence of pancreatitis. This may be a previously unrecognized manifestation of PD in children, and clinicians need to be aware of it.

Prevalence of Dome-Shaped Macula and Tilted Disc Syndrome in High Myopia.

Dome-shaped macula (DSM) and tilted disc syndrome (TDS) are two macular abnormalities that may occur in eyes with high myopia. The aim of this study was to determine the prevalence of both entities in our population. This was a prospective and observational study. Optical coherence tomography of the macula was performed in eyes with high myopia (spherical equivalent [SE] of -8D or greater) to assess the prevalence of DSM and TDS. Sixty-eight eyes were included. Three eyes (4.41%) had DSM and 8 (11.76%) eyes had TDS. The most common macular anomaly was posterior staphyloma (PS) (12 [17.65%]). From the eyes with DSM (n = 3), only two presented PS. An older age and a higher SE were predisposing factors for PS (P = 0.003). A lower prevalence of DSM and a higher prevalence of TDS was observed in our population compared to those reported in literature. [Ophthalmic Surg Lasers Imaging Retina 2023;54:568-572.].

The Effects of Medical Comorbidities on Neurodevelopmental Features in Children with Down Syndrome

Background: Down Syndrome (DS) is one of the most common genetic anomalies observed in approximately one out of 700 live births, which occurs as a result of an excess of chromosome 21 (trisomy 21). Cognitive development in DS children is generally in the range of moderate to severe retardation, and mental age is rarely above eight years. The aim of this study is to investigate the neurodevelopmental characteristics of children with DS between the ages of 1-6 and their relationship with comorbid medical pathologies. Materials and Methods: A total of 83 DS children who applied to the child and adolescent mental health outpatient unit, were included in the study, and the relationships between sociodemographic and medical histories and neurodevelopmental characteristics were analyzed. Denver II Developmental Screening Test was used to evaluate their development. Four areas were evaluated: gross motor development, fine motor development, language-cognitive development and personal-social development. Results: The rates of medical comorbidities in children with DS was 75.9% (38 had heart problems, 17 had thyroid dysfunction, and 8 had epilepsy). There was no statistically significant difference between genders in terms of Denver II Developmental Screening Test scores. Children with hypothyroidism have significantly lower Denver II Developmental Screening Test scores in all domains. Other medical comorbidities did not have a significant effect on Denver II Developmental Screening Test scores. Conclusions: Concomitant medical diseases in children with DS may affect the development of the child. Therefore, early diagnosis and treatment of these conditions is essential. Due to the negative effects of hypothyroidism on the development of children, care should be taken in the treatment and close follow-up of these children.

Designs used in published therapeutic studies of rare superficial vascular anomalies: a systematic literature search

BackgroundRare superficial vascular anomalies represent a wide range of diseases. Their management is difficult given the broad spectrum and the lack of clinical trials assessing treatment efficacy. A randomized clinical trial of vascular anomalies is difficult because of the rarity of the diseases and is enhanced by the population of interest often being children. Therefore, suitable designs are needed. We conducted a methodological systematic literature search to identify designs implemented for investigating the treatment of rare superficial vascular anomalies.MethodsWe conducted a literature search on January 25, 2021, of the PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), Embase, ClinicalTrials.gov and European Union Clinical Trials Register databases. This systematic methodological literature search was registered at the Prospective Register of Systematic Reviews (PROSPERO: CRD42021232449). Randomized and non-randomized studies were included if they met the following criteria: were prospective studies of rare superficial vascular anomaly therapies, dealt with humans (adults and children) and were published in English from 2000. We excluded case reports/case series reporting fewer than 10 patients, reviews, retrospective studies, animal studies, studies of systemic or common vascular anomalies and non-therapeutic studies. We did not assess risk of bias in the included studies because our review was a methodological one focused on the design used. The review provided a descriptive analysis of relevant features of eligible research studies.ResultsFrom 2046 articles identified, we included 97 studies (62 reports and 35 ongoing studies): 25 randomized controlled studies, 7 non-randomized comparative studies, 64 prospective cohorts and 1 case series. Among the 32 comparative studies included, 21 used a parallel-group design. The 11 other studies used different designs such as cross-over, randomized placebo phase, delayed-start, within-person, or challenge–dechallenge–rechallenge or used a historical control group or an observational run-in period.ConclusionsOur systematic literature search highlights the lack of randomized control trials in superficial vascular anomalies due to the rarity of patients and their heterogeneity. New designs are emerging and can overcome the limitations of testing treatments in parallel groups.

Graph Signal Variation Detection: A novel approach for identifying and reconstructing ship AIS tangled trajectories

Tangles are a common anomaly in Automatic Identification System (AIS) data, resulting from disorder in time sequences. They increase the spatial complexity of trajectories, making existing methods unable to fully recognize and process them. This will seriously affect the analysis of ship behavior. Furthermore, existing methods often directly remove after recognition, resulting in a significant loss of local information. To address these challenges, this paper proposes an algorithm called Graph Signal Variation Detection (GSVD) to recognize and reconstruct tangles. Initially, data preprocessing is conducted to remove redundant and stationary points. Then, construct the vertices and edges of the graph using indicators integrating AIS data features and ship trajectories, respectively. The tangled region is identified by calculating the total variation theory of the graph. The tangled region is reconstructed using the greedy heuristic, and the optimal reconstruction path is determined by combining total variation quantization. Finally, the GSVD is compared with four prevailing methods, through qualitative and quantitative analyses. The results demonstrate that the GSVD surpasses the other methods in terms of recognition accuracy, recall rates, and false alarm rates. Additionally, the GSVD can effectively reconstruct the tangle.

A Retrospective Review of Outcomes and Complications after Infant Ear Molding at a Single Institution.

The purpose of this study was to evaluate outcomes and complications associated with infant ear molding at a single institution. We conducted a retrospective chart review of all infants who underwent ear molding using the EarWell Infant Ear Correction System with pediatric plastic surgery from October 2010 to March 2021. Types of ear anomalies, age at initiation, duration of treatment, gaps in treatment, comorbidities, and complications were extracted for included patients. The primary outcomes assessed were degree of ear anomaly correction and incidence of skin complications. Parents were also sent a questionnaire regarding their long-term satisfaction with the ear molding treatment process. A total of 184 ears of 114 patients meeting inclusion criteria were treated during the study period. Mean age at treatment initiation was 21 days, and average duration of treatment was 40 days. Helical rim deformities (N = 50 ears) and lop ear (N = 40 ears) were the most common anomalies. A total of 181 ears (98.4%) achieved either a complete (N = 125 ears, 67.9%) or partial correction (N = 56 ears, 30.4%). The most common complications were eczematous dermatitis (N = 27 occurrences among 25 ears, 13.6%) and pressure ulcers (N = 23 occurrences among 21 ears, 12.5%). Infants who experienced a complication were 3.36 times more likely to achieve partial relative to complete correction (P < 0.001; 95% confidence interval 1.66-6.81). Ear molding is an effective treatment strategy for infant ear anomalies, with most patients achieving complete correction.