Multiple Anomalies Research Articles

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Constitutional heterozygous mutations in CHEK2 gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2 mutations have been reported in families with cancer susceptibility. Here, we report two unrelated individuals with a personal and familial cancer history in whom biallelic CHEK2 alterations were identified. The first case resulted homozygous for the CHEK2 c.793-1 G > A (p.Asp265Thrfs*10) variant, and the second one was found to be compound heterozygous for the c.1100delC (p.Thr367Metfs*15) and the c.1312 G > T (p.Asp438Tyr) variants. Multiple cytogenetic anomalies were demonstrated on peripheral lymphocytes of both patients. A literature revision showed that a single other CHEK2 homozygous variant was previously associated to a constitutional randomly occurring multi-translocation karyotype from peripheral blood in humans. We hypothesize that, at least some biallelic CHEK2 mutations might be associated with a novel disorder, further expanding the group of chromosome instability syndromes. Additional studies on larger cohorts are needed to confirm if chromosomal instability could represent a marker for CHEK2 constitutionally mutated recessive genotypes, and to investigate the cancer risk and the occurrence of other anomalies typically observed in chromosome instability syndromes.

Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.

People with 22q11.2 deletion syndrome (22q11DS) can present with a wide variety of findings. Various airway anomalies have been described intermittently within this syndrome, but this feature has not been extensively investigated. Increased provider awareness of these findings may help guide clinical decision-making and improve overall patient outcomes. The objectives of this review are to identify the types of airway anomalies in 22q11DS and the prevalence of airway anomalies within symptomatic individuals. PubMed/MEDLINE, Cochrane Library, and EMBASE databases were searched in February 2022 for all available articles. Search terms included those that described 22q11DS or one of its synonymous conditions AND those that described airway anatomy and anomalies. The term airway anomaly was defined as any structural aberration in the conductive airway from the oral or nasal vestibule region to the mainstem bronchus. Studies were screened by two authors. A review of references was conducted. Eligible manuscripts underwent full-text review for quality appraisal and data extraction. From a total of 909 unique manuscripts, 58 studies were selected, describing 328 people. The prevalence of airway anomaly diagnosis within symptomatic individuals ranged from 14% to 74%. Twenty-two unique airway anomalies were described. Laryngeal web was the most frequently described anomaly, followed by airway malacia and subglottic stenosis. Laryngeal web was 40% sensitive for suggesting a diagnosis of 22q11DS. Among affected individuals, as many as 46% had multiple concomitant airway anomalies. Aside from respiratory symptoms, other features that prompted airway evaluation included difficult intubation or failed extubation. The findings within this review support the notion that a wide variety of airway anomalies may be seen in people with 22q11DS and that these findings have been discovered frequently in those with airway symptoms. Providers should maintain a low threshold to perform an airway examination in those with 22q11DS, especially when airway symptoms are present.

Analysis of the feasibility of using deep learning for multiclass classification of dental anomalies on panoramic radiographs.

The aim of the feasibility study was to construct deep learning models for the classification of multiple dental anomalies in panoramic radiographs. Panoramic radiographs with single supernumerary teeth and/or odontomas were considered the "case" group; panoramic radiographs with no dental anomalies were considered the "control" group. The dataset comprised 150 panoramic radiographs: 50 each of no dental anomalies, single supernumerary teeth, and odontomas. To classify the panoramic radiographs into case and control categories, we employed AlexNet, which is a convolutional neural network model. AlexNet was able to classify whole panoramic radiographs into two or three classes, according to the presence or absence of supernumerary teeth or odontomas. The performance metrics of the three-class classification were 70%, 70.8%, 70%, and 69.7% for accuracy, precision, sensitivity, and F1 score, respectively, in the macro average. These results support the feasibility of using deep learning to detect multiple dental anomalies in panoramic radiographs.

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients.

Duodenal obstruction (DO) is a congenital anomaly that is highly associated with other anomalies, such as cardiac anomalies and trisomy 21. However, an overview of additional anomalies and patient-specific risk factors for cardiac anomalies is lacking. Potential association with the vertebral, anorectal, cardiac, trachea-esophageal, renal and limb anomalies (VACTERL) spectrum remains unknown. Therefore, we aim to examine the incidence of associated anomalies, a VACTERL-spectrum association and patient-specific risk factors for cardiac anomalies in patients with DO. A retrospective cohort study was performed between 1996 and 2021. Outcomes were the presence of any additional anomalies. Risk factors for cardiac anomalies were analyzed using multivariate logistic regression. Of 112 neonates with DO, 47% (N = 53/112) had one associated anomaly and 38% (N = 20/53) had multiple anomalies. Cardiac anomalies (N = 35/112) and trisomy 21 (N = 35/112) were present in 31%. In four patients, VACTERL-spectrum was discovered, all with cardiac anomalies. Trisomy 21 was found to be a risk factor for cardiac anomalies (OR:6.5; CI-95%2.6-16.1). Associated anomalies were present in half of patients with DO, of which cardiac anomalies and trisomy 21 occurred most often, and the VACTERL-spectrum was present in four patients. Trisomy 21 was a significant risk factor for cardiac anomalies. Therefore, we recommend a preoperative echocardiogram in patients with DO. In case a cardiac anomaly is found without trisomy 21, VACTERL-screening should be performed.

Gestational age-specific neonatal mortality in Hong Kong: a population-based retrospective study.

The neonatal period is the most vulnerable period during childhood, with the risk of death being the highest even in developed countries/regions. Hong Kong's neonatal mortality (1‰) is among the world's lowest and has remained similar for 15years. This study aimed to explore neonatal deaths in Hong Kong in detail and determine whether neonatal mortality is reducible at such a low level. Live births in public hospitals in Hong Kong during 01 Jan 2006-31 Dec 2017 were included. Relevant data were extracted from the electronic medical records. Gestational age-specific mortality was calculated, and the trends were analyzed using the Cochran-Armitage trend test. Causes of death were summarized, and risk factors were identified in multivariate logistic regression analysis. In 490,034 live births, 755 cases (1.54‰) died during the neonatal period, and 293 (0.6‰) died during the post-neonatal period. The neonatal mortality remained similar overall (P = 0.17) and among infants born at 24-29weeks' gestation (P = 0.4), while it decreased in those born at 23 (P = 0.04), 30-36 (P < 0.001) and ≥ 37 (P < 0.001) weeks' gestation. Neonates born at < 27weeks' gestation accounted for a significantly increased proportion among cases who died (27.6%to 51.9%), with hemorrhagic conditions (24%) being the leading cause of death. Congenital anomalies were the leading cause of death in neonates born ≥ 27weeks' gestation (52%), but its cause-specific mortality decreased (P = 0.002, 0.6‰ to 0.41‰), with most of the decrease attributed to trisomy 13/18 and multiple anomalies. Reduction of neonatal mortality in developed regions may heavily rely on improved quality of perinatal and neonatal care among extremely preterm infants.

7292 Laparoscopic Foetal Extraction and Repair of Uterine Rupture at 20 Weeks of Gestation

<h3>Study Objective</h3> To demonstrate the viability of laparoscopic intervention for uterine rupture in selected cases. <h3>Design</h3> Case report. <h3>Setting</h3> Hospital with ICU facility. <h3>Patients or Participants</h3> A 28-year-old G4 P2 A1 with uterine rupture at 20 weeks looking to preserve her fertility. <h3>Interventions</h3> Laparoscopic intervention instead of laparotomy for a ruptured uterus. <h3>Measurements and Main Results</h3> Termination of pregnancy is a common medical procedure performed in the second trimester when the foetus has multiple anomalies. Termination of mid-trimester pregnancy constitutes about 10 to 15% of all abortions worldwide. We demonstrate a laparoscopic approach for foetal extraction which will definitely benefit the patient especially when she is planning to have another baby. <h3>Conclusion</h3> Uterine rupture is a rare complication following induction of labour for the termination of pregnancy with previous surgeries. It is usually associated with severe lower abdominal pain and sudden cessation of contractions along with haemorrhagic shock caused by intra- abdominal haemorrhage. Laparotomy is the standard procedure to repair uterine rent or to perform a hysterectomy. Here, we present a case of uterine rupture in a patient at 20 weeks of gestation who underwent termination of pregnancy by induction of labour for multiple fetal anomalies. Patient was successfully managed by laparoscopy. It suggests that laparoscopy can be an effective approach in the treatment of uterine rupture for hemodynamically stable patients.

An automatic inversion approach for magnetic data applying the global bat optimization algorithm (GBOA): application to ore deposits and basement rock intrusion

Recently, metaheuristic approaches are frequently used to the potential data inversion (i.e., magnetic data) as a global optimizing approach. In the present study, we proposed a global optimizing bat algorithm (GOBA) that based on bat echolocation behavior to obtain globally optimal solutions (best parameters) of magnetic anomalies. The best determined source parameters were picked at the suggested minimum objective function. The proposed GOBA approach does not require prior information and represents an effective technique of surveying the entire domain of the raw data to evaluate sources optimal parameters. The GOBA approach is employed to magnetic data profiles to determine the characteristic source attributes (i.e. the vertical depths to the center of the anomalous structures, the magnitude of amplitude coefficients, the sources origin, the approximated geometric form factors, and the effective angles of magnetization). The GOBA approach can be applied to single and multiple anomaly structures in the restricted categories of basic geometric shapes (spheres, cylinders, sheets, and dikes). The stability, constancy, and performance of the given GOBA approach are achieved on different purely and contaminated examples for individual and double sources. Besides, the introduced GOBA approach has been fruitfully utilized to three field datasets from Turkey, Canada, and Senegal for ore deposit and basement rock intrusion investigations. Overall, the recovered inversion results from the GOBA approach are in high correlation with the available drill-holes, geologic data, and scholarly articles outcomes. Finally, the provided metaheuristic GOBA approach is a simple, accurate, and powerful technique for magnetic data interpretation.Article highlightsAn automatic approach for magnetic data interpretation to investigate the ore deposits and sustainable resources such as volcanic and basement rock intrusions based on bat echolocation behavior to obtain the global optimal solutions.In this study we built 2D models aims to image of the interior of the subsurface to investigate their natural resources, for example minerals & ore deposits and rock intrusions, helping in understand their concentration and the distribution location, including the depth to their sources.We came to the conclusion that the suggested approach is useful in ore & mineral research, the reconnaissance geological studies and can be extend to the volcanic activity & geothermal exploration studies in the future.

Perinatal Outcomes According to the Type of Prenatally Diagnosed Umbilical-Portal-Systemic Venous Shunt

Background: The abnormal course of the umbilical vein and the absence or displacement of the portal vein or ductus venosus may suggest the presence of other shunts. In recent years, an in utero classification of umbilical-portal-systemic venous shunts (UPSVS) has been introduced. This study aims to report our experience with the prenatal diagnosis of UPSVS and to evaluate the perinatal outcomes of fetuses with different types of UPSVS. Methods: This was a retrospective study of fetuses prenatally diagnosed with UPSVS between January 2005 and September 2020 at Asan Medical Center. UPSVS was prenatally classified into three types according to the anatomical origin of the shunt: type I, umbilical-systemic shunt; type II, ductus venosus-systemic shunt; and type III, portal-systemic shunt. Type III was further divided into two subtypes: type IIIa, intrahepatic shunt; type IIIb, extrahepatic shunt. Postnatal ultrasonography or abdominal computed tomography (CT) was performed to confirm UPSVS. Results: Out of 18 fetuses prenatally diagnosed with UPSVS, four were excluded. All four patients were confirmed to have portal vein variations without a shunt. The median gestational age at the diagnosis of the remaining 14 fetuses was 30.3 weeks (range, 23.1–37.3). The median gestational age at birth was 37.2 weeks (range, 31.0–39.3), and the median birth weight was 2105 g (range, 1350–2870), including nine (64%) who had body weights below the 10th percentile. Eleven patients (79%) had combined anomalies; cardiomegaly and fetal hydrops were observed in eight (57%) and two (14%) patients, respectively. Among the 11 patients who underwent chromosomal analysis, three had abnormal results. Two infants with abnormal karyotypes died. The most common type was type I (8, 57%), followed by type IIIa (4, 29%), type II (1, 7%), and type IIIb (1, 7%). In type I, all but one patient had structural anomalies; five (63%) showed cardiomegaly and five (63%) were associated with growth restriction. Nevertheless, half of the patients survived without major anomalies. In type IIIa, three (75%) patients were associated with growth restriction, but they showed catch-up growth after birth. All patients had mild transient hyperammonemia. One type II patient was associated with cardiomegaly, fetal hydrops, and an abnormal karyotype. One type IIIb patient had multiple anomalies and an abnormal karyotype. No surgical correction was required because of the UPSVS. Conclusions: Prenatal diagnosis of UPSVS is feasible. When an abnormal course of the umbilical or portal vein is detected on the transverse abdominal view, UPSVS should be suspected. UPSVS is commonly associated with structural anomalies, chromosomal anomalies, growth restriction, and cardiomegaly. UPSVS without associated anomalies may have a favorable prognosis. Our study can help predict the prognosis of UPSVS and assist in prenatal counseling.

A Single-institution, Retrospective Chart Review of Outcomes and Complications Following Infant Ear Molding with the EarWell System

PURPOSE: Approximately one-third of infants are born with ear anomalies, more than two-thirds of which do not self-correct.1 Ear molding is the mainstay of nonsurgical correction and is commonly initiated as soon as possible after birth while cartilage remains malleable due to high concentrations of circulating maternal estrogens in the infant bloodstream.1 The purpose of this study was to examine the outcomes and complications associated with infant ear molding using the EarWell system at a single institution. METHOD: We conducted a retrospective chart review of all infants who underwent ear molding with pediatric plastic surgery from October 2010 to March 2021. Ear anomalies were classified as deformations, malformations, or multiple anomalies. Age at initiation, duration of treatment, temporal gaps in treatment, comorbidities, and details regarding any complications were also extracted for included patients. The primary outcomes assessed were degree of ear anomaly correction, incidence of skin complications, and unanticipated cessation of treatment. Parents of included patients were also sent a questionnaire regarding their children’s experiences with the ear molding process in which four outcomes regarding ear appearance (overall appearance, ‘natural’ look, symmetry, prominence) were rated on a 4-point Likert scale and cumulatively scored out of 16. RESULTS: A total of 184 ears of 113 patients were treated during the 11-year 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 present. Nine ears possessed characteristics consistent with two different 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%) upon treatment completion. There was no statistically significant association between age at initiation (p = 0.314), duration of application (p = 0.198), or type of anomaly (p = 0.192) and partial vs. complete correction. The most common complications were eczematous flares (N=27 occurrences among 25 ears, 13.6%) and pressure ulcers (N=23 occurrences among 21 ears, 12.5%). Incidence of complications was not significantly associated with age at application (p = 0.269), duration of application (p = 0.238), or type of anomaly (p = 0.106). Infants who experienced a complication were 3.36 times more likely to achieve partial correction (p < 0.001; 95% CI 1.66-6.81) relative to complete correction. Questionnaire responses were received for 24 out of 113 patients (21.2%) and were categorized into ‘Successful’ (N=21, 87.5%) and ‘Unsuccessful’ groups (N=3, 12.5%) depending on whether respondents denoted the ear molding process as successful or unsuccessful, respectively. The average cumulative appearance score for the ‘Unsuccessful’ and ‘Successful’ groups was 11 ± 2.6 and 15.4 ± 1.6, respectively, with a statistically significant difference between groups (p = 0.002). CONCLUSION: The EarWell system is an effective treatment strategy for infant ear anomalies, with most patients achieving complete correction. Addressing complications early may help providers optimize outcomes. REFERENCES: 1. Byrd HS, Langevin CJ, Ghidoni LA. Ear Molding in Newborn Infants with Auricular Deformities. Plastic and Reconstructive Surgery. 2010;126(4):1191-1200. doi:10.1097/PRS.0b013e3181e617bb

Inverse modeling and uncertainty assessment of magnetic data from 2D thick dipping dyke and application for mineral exploration

Identifying subsurface mineralized zones is of immense importance in the mineral exploration industry. It is challenging for exploration geophysicists to delineate the structures associated with it. One such structure, a dyke is of immense importance for locating mineral or ore bodies. Hence, in the present study, inverse modeling of the magnetic anomalies produced by a 2D dyke like structure was carried out using a very fast simulated annealing (VFSA) global optimization algorithm. The parameters such as amplitude coefficient, depth, half-width, origin, and dip angle of 2D inclined dyke like bodies were interpreted. The inversion approach was then applied to the synthetic noise-free, noisy data, and three field examples for a single body from known magnetic anomalies from Pima copper mine in the US state of Arizona, Marcona iron mine in Peru, Bayburt-Sarihan skarn mineralization from Turkey, and one multiple dyke anomalies from Beldih uranium mineralization, India were taken for such study. It has been found that VFSA optimization can efficiently interpret all the parameters with minimum uncertainty. However, parameters such as amplitude coefficient, depth, and half-width shows some uncertainty in estimating the model parameters describing an equivalent solution, but within the minimum misfits and are close to the accurate models with the slightest uncertainty. Other investigation from 2D cross plots and 3D volume space analysis also reveals the same. The present findings show that VFSA can provide a good result in agreement with the actual data and formerly obtained results from the different interpretation and inversion methods and a priori information for field data. Hence, it can be determined that the present VFSA algorithm can be very effective for understanding the magnetic anomalies derived from 2D dykes with or without a priori information.

Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, mental retardation, retinal dystrophy, hypogenitalism and renal and polydactyly malformations. The last two malformations may be observed antenatally and are highly variable, making the prenatal diagnosis of BBS challenging. The present study investigated the molecular etiology of BBS and validated a method for prenatal diagnosis. A Chinese couple who had conceived two fetuses with multiple malformations, including hyperechogenic kidneys, polydactyly, cardiac malformation and abdominal abnormalities, presented at the Prenatal Diagnosis Center of Boai Hospital of Zhongshan Affiliated to Southern Medical University (Zhongshan, China) in November 2018. BBS was suspected and whole-exome sequencing was performed for the second fetus. Two novel compound heterozygous variants were detected in the BBS10 gene, c.784_785delGA from the father and c.1812dupT from the mother, which are probably causative of the pathogenesis of BBS. This finding provided a basis for genetic counseling and prenatal diagnosis for the couple and enriched the variation spectrum of the BBS10 gene. The ultrasonic findings of the fetal abdomen are the first reported in fetuses with BBS, expanding the antenatal phenotypes of BBS.

Variations in renal arteries and pelvicalyceal system: A case report

To describe a complex case of anomalous kidneys involving right early division of renal artery, left accessory renal artery, bilateral upper polar arteries and bilateral extrarenal calyces. This is a very rare case documented having these four anomalies together. The variations were observed during routine anatomical dissection in a male cadaver at department of anatomy, Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER), Pondicherry, IndiaDuring dissection, multiple anatomical variations involving the structures at the hilum of right kidney were found. Right kidney showed early division of renal artery (RRA) 1.4 cm close to aorta. Left kidney showed accessory renal artery (LARA) 5 mm above origin of main renal artery (LRA), running obliquely entering the hilum. Two polar arteries were seen entering upper pole on right kidney as well as left kidney (RUPA1, RUPA2, LUPA1, LUPA2). Extrarenal calyces were observed to be present in both the kidneys, two on the right and three on the left. The variations observed are of importance as multiple anomalies are present in a single cadaver. They are of significance during surgical procedures like renal transplantation, aortic surgeries and in radiological interpretation.

Use of intra-operative internal distraction for the application of magnetically controlled growth rods (MCGR): a technique for maximizing correction in the rigid immature spine during index surgery.

Operative treatment of early onset scoliosis (EOS) with Magnetically Controlled Growing Rod (MCGR) in moderate-to-severe curves poses a challenge due to the limited amount of force and length available with the implant. The purpose of this study was to assess the use of the intra-operative internal spine distraction using Harrington Outrigger, before definitive implantation of MCGR, with regard to initial correction, maintenance of correction, truncal balance, and complication rates. 16 EOS patients treated with the application of MCGR using the intra-operative internal distractor technique were included in the study. More than 50% of cases were congenital scoliosis with multiple vertebral anomalies. All patients were followed up for a minimum of 2years. Radiological measurement of change in Cobb angle, thoracic kyphosis, lumbar lordosis, T1-S1 length, T1-T12l length, and sagittal balance were done at pre-op, immediate post-op, after 1year, and 2years. All the complications were noted and documented. The mean age of the operated patients was 8±1.7years, range (4-10years). Mean pre-operative Cobb angle was 70.4 degrees. The mean correction of major Cobb angle was 34.6°. The percentage correction achieved in post-operative Cobb angle was about 51%. Mean change in post-operative thoracic kyphosis was 18.5° (40%). The average gain in immediate post-operative spinal length (T1-S1) and thoracic height (T1-T12) was 46.7mm (18.3%) and 41mm (23%), respectively. Large and rigid curves in EOS can achieve a significant correction of Cobb angle and coronal imbalance during the index operation, by the use of intra-operative internal distraction at the time of MCGR insertion. Retrospective clinical study, level 4.

Wisdom of the contexts: active ensemble learning for contextual anomaly detection

In contextual anomaly detection, an object is only considered anomalous within a specific context. Most existing methods use a single context based on a set of user-specified contextual features. However, identifying the right context can be very challenging in practice, especially in datasets with a large number of attributes. Furthermore, in real-world systems, there might be multiple anomalies that occur in different contexts and, therefore, require a combination of several “useful” contexts to unveil them. In this work, we propose a novel approach, called wisdom of the contexts (WisCon), to effectively detect complex contextual anomalies in situations where the true contextual and behavioral attributes are unknown. Our method constructs an ensemble of multiple contexts, with varying importance scores, based on the assumption that not all useful contexts are equally so. We estimate the importance of each context using an active learning approach with a novel query strategy. Experiments show that WisCon significantly outperforms existing baselines in different categories (i.e., active learning methods, unsupervised contextual and non-contextual anomaly detectors) on 18 datasets. Furthermore, the results support our initial hypothesis that there is no single perfect context that successfully uncovers all kinds of contextual anomalies, and leveraging the “wisdom” of multiple contexts is necessary.

CLOVES Syndrome: An Unusual Presentation of a Rare Entity

Abstract CLOVES syndrome is a rare disorder that falls under the spectrum of clinically and etiologically heterogenous “vascular malformation with limb overgrowth syndromes.” An 8-year-old male child presented with overgrowth of limbs, multiple vascular malformations, epidermal nevus, skeletal anomalies, and undescended testis, based on which a diagnosis of CLOVES syndrome was made. This publication serves to discuss the classical features of this rare syndrome and to report undescended testis, which is an unusual feature. Identifying this variable constellation of features is essential to differentiate the condition from other similar disorders for purposes of academics, research, and patient care.

Structural health monitoring data cleaning based on Bayesian robust tensor learning

Data cleaning is necessary to obtain high-quality monitoring data, which consists of two parts: anomaly identification and repair. A high-quality dataset is always used to repair data anomalies in current research, which may be difficult to obtain in practice because of the large number of data anomalies existing in real data. Besides, outliers, baseline shifts, and noise in dataset can lead to wrong missing restoration results. Therefore, the anomaly identification and location are needed to remove outliers, baseline shifts, and noise to regard the repair of these anomalies as missing data restoration. However, the identification of multiple data anomalies is time consuming and challenging. To this end, we propose a Bayesian robust tensor learning model to reconstruct the monitoring data tensor by extracting potential data features of the spatiotemporal tensor. A mixture of Laplace distribution with generalized inverse Gaussian distribution is used to model noise to enhance robustness. The tensor formed from the data containing anomalies can be input directly into the model without the identification and location of the data anomalies in advance. All data anomalies are repaired during the tensor reconstruction process. In addition, outliers, baseline shifts, and noise do not interfere with the missing restoration results owing to the robustness of the model. Furthermore, different cleaning strategies are proposed for dynamic and static response data. The data performance is verified using the real monitoring data of a concrete box girder bridge. The results show that the proposed method exhibits good data-cleaning performance when dealing with data containing a large number of data anomalies. In addition, as the abnormal rate increases, the proposed method still exhibits good data-cleaning performance.

Impact of Data Loss on Multi-Step Forecast of Traffic Flow in Urban Roads Using K-Nearest Neighbors

Data-driven models have recently proved to be a very powerful tool to extract relevant information from different kinds of datasets. However, datasets are often subject to multiple anomalies, including the loss of important parts of entries. In the context of intelligent transportation, we examine in this paper the impact of data loss on the behavior of one of the frequently used approaches to address this kind of problems in the literature, namely, the k-nearest neighbors model. The method designed herein is set to perform multi-step traffic flow forecasts in urban roads. In our study, we deploy non-prepossessed real data recorded by seven inductive loop detectors and delivered by the Traffic Management Center (VMZ) of Bremen (Germany). Firstly, we measure the performance of the model on a complete dataset of 11 weeks. The same dataset is then used to artificially create 50 incomplete datasets with different gap sizes and completeness levels. Afterwards, in order to reconstruct these datasets, we propose three computationally-low techniques, which proved through empirical testing to be efficient in reproducing missing entries. Thereafter, the performance of the E-KNN model is assessed under the original dataset, incomplete and filled-in datasets. Although the accuracy of E-KNN under incomplete and reconstructed datasets depends on gap lengths and completeness levels, under original dataset, the model proves to deliver six-step forecasts with an accuracy of 83% on average over 3 weeks of the test set, which also translates to a less than one car per minute error.

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

BackgroundThere are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap.MethodsThe retrospective review revealed 9 neonates born with congenital heart defects (CHDs) and diagnosed as RASopathies due to de novo mutations (DNMs) by trio-based exome sequencing (ES) between January 2017 and December 2020. We report in details of the neonatal course, molecular analysis and 180-days of age follow-up in affected individuals.ResultsThe early clinical spectrum included various types of CHDs, less noticeable multiple extracardiac anomalies and unspecific symptoms like poor feeding. Of the 8 variants identified from 6 genes, 2 in RASA1 were novel: (NM_002890.2: c.2828 T > C (p.Leu943Pro)) and (NM_002890.2: c.2001del (p.Pro668Leufs*10)), which functionally impaired the protein structure. There was a relatively high mortality rate of 33.33% (3/9) for all the defects combined. A RAF1-deficient male and a RASA1-deficient male survived from severe heart failure by surgical interventions in early life.ConclusionsOur results revealed that family-based ES was useful in identifying DNMs and causal genes for sporadic diseases and screening Rasopathies shortly after birth. We recommended a family-based ES and a full phenotypic evaluation including echocardiogram, magnetic resonance imaging, ultrasonography and coagulation screening in neonates with CHDs and a suspected genetic etiology.

Cayler Syndrome with Isolated Cleft Palate: Case Report

Published on:August 2022 Journal of Young Pharmacists, 2022; 14(3):337-338 Case Report | doi:10.5530/jyp.2022.14.66 Authors: Elizabeth Jacob*, Cyril Sajan Department of Pharmacy, Sumandeep Vidyapeeth (Deemed to Be University), Vadodara, Gujarat, INDIA. Abstract: The present study was focused on assessing the clinical Isolated cleft palate is the term used when a cleft occurs only within the palate. In clinical terms it is differentiated from other clefts, affecting the primary palate because it as such doesn’t affect either the alveolar ridge or the perioral musculature. This makes the diagnosis of the cleft, by facial analysis, more challenging, since it is concealed in the palate. Cayler syndrome is an abnormal condition at birth represented by hypoplasia of the depressor angular oris muscle (HDAOM) in an addition to cardiac birth defects. A considerable range of multiple organ system anomalies are also to predicted to be present. Paediatrician must make awareness regarding this minor facial anomaly as it can be related to multiple, cardiac and internal organs abnormalities. I present to you a paediatric rare case of cleft palate which appears to be isolated, along with cayler syndrome. To my knowledge no previous report on situs inverse totalis was reported. Additionally, the patient does not have any major cardiac anomalies associated with the cayler complications.Keywords: Isolated cleft palate, Cayler syndrome, Palatoplasty, Palatogenesis, Clefting.

Delivery timing for the opioid–exposed infant

The prevalence of opioid use disorder and medication-assisted treatment in pregnancy is increasing. Compared with term infants, preterm infants have a lower incidence of neonatal opioid withdrawal syndrome. It is unknown whether early term delivery compared with full or late-term delivery decreases the risk of neonatal opioid withdrawal syndrome. This study aimed to compare the neonatal outcomes among opioid-exposed infants born in the early, full, and late-term periods. This was a retrospective cohort study of opioid-exposed pregnancies delivering at a single center from 2010 to 2017 at ≥37 weeks gestation. Participants with multiple gestations or fetal anomalies were excluded. Maternal opioid exposurewas defined as prescription (including medication-assisted treatment) or nonprescription opioid use or a positive urine drug screen in pregnancy for opiates. The primary outcome was a neonatal composite of respiratory distress syndrome, neonatal sepsis, neonatal seizures, hypoxic ischemic encephalopathy, jaundice requiring treatment, 5-minute Apgar <5, neonatal intensive care unit admission, neonatal opioid withdrawal syndrome, or neonatal death. The secondary outcomes included individual components of the primary outcome, birthweight, need for and length of neonatal opioid withdrawal syndrome treatment, length of hospital admission, and maximum Finnegan scores. Early (37-<39), full (39-<41), and late (41-<42 weeks) term groups were defined by the American College of Obstetricians and Gynecologists. Of 399 infants, 136 (34.1%), 229 (57.4%), and 34 (8.5%) were born in the early, full, and late-term periods, respectively. Two hundred and seventy patients (67.7%) received medication-assisted treatment for opioid use disorder, and the baseline characteristics were similar in all the groups except for history of intranasal heroin use, positive urine toxicology screen for heroin or any opiates, and delivery indication (P<.05). The primary composite outcome occurred in 313 (78.4%) neonates, and 296 (74.2%) neonates had neonatal opioid withdrawal syndrome. More than half (219 [54.9%]) of opioid-exposed neonates were admitted to the neonatal intensive care unit, and 160 (40.1%) required pharmacologic neonatal opioid withdrawal syndrome treatment for a mean duration of almost 3 weeks (19.0±16.1 days). There were no significant differences in the primary composite outcome, incidence of neonatal opioid withdrawal syndrome, or other secondary outcomes (except birthweight) between neonates born in the early, full, or late-term periods. Although neonatal morbidity was frequent among opioid-exposed neonates, the incidence and severity of neonatal opioid withdrawal syndrome or other neonatal outcomes were not different between neonates delivered in the early, full, and late-term periods, suggesting that opioid-exposed infants may not benefit from early term delivery.