Search

Simple Summary: Much research has been conducted on the causes of childhood cancer, but many areas of uncertainty remain. We conducted a detailed search of recent studies investigating the causes of childhood cancer. Our findings, based on publications from 2014 to 2021, are summarized by topic in three separate papers: factors acting during childhood (Paper 1), factors relating to the parents and pregnancy (Paper 2), and factors relating to the environment (Paper 3). In this first paper, we summarize convincing evidence from studies that show increased childhood cancer risk associated with genetic cancer predisposition, birth defects, prior cancer, medical ionizing radiation, organ transplantation and exposure to cancer-causing viruses, and a reduced risk associated with some childhood vaccinations. Other factors discussed in this paper include the impact of the child's diet, allergies, medications, and body mass index. This review of factors associated with childhood cancer may help evidence-based efforts to reduce cancer in our pediatric populations. Purpose: To review the childhood risk factors for pediatric cancer (diagnosis before age 20). Methods: We conducted literature searches using Ovid Medline and Scopus to find primary research studies, review articles, and meta-analyses published from 2014 to 3 March 2021. Results: Strong evidence indicates that an array of genetic and epigenetic phenomena, structural birth defects, and chromosomal anomalies are associated with an increased risk of various childhood cancers. Increased risk is also associated with prior cancer, likely due to previous treatment agents and therapeutic ionizing radiation. Convincing evidence supports associations between several pediatric cancers and ionizing radiation, immunosuppression, and carcinogenic virus infection both in healthy children and in association with immune suppression following organ transplantation. Breastfeeding and a childhood diet rich in fruits and vegetables appears to reduce the risk of pediatric leukemia but the evidence is less strong. Childhood vaccination against carcinogenic viruses is associated with a lower risk of several cancers; there is less strong evidence that other childhood vaccinations more broadly may also lower risk. Ultraviolet (UV) radiation is associated with increased melanoma risk, although most melanomas following childhood UV exposure occur later, in adulthood. Evidence is weak or conflicting for the role of body mass index, other childhood infections, allergies, and certain treatments, including immunomodulator medications and human growth therapy. [ABSTRACT FROM AUTHOR]

Fetal hypoxia is a condition characterized by a lack of oxygen supply in a developing fetus in the womb. It can cause potential risks, leading to abnormalities, birth defects, and even mortality. Cardiotocograph (CTG) monitoring is among the techniques that can detect any signs of fetal distress, including hypoxia. Due to the critical importance of interpreting the results of this test, it is essential to accompany these tests with the evolving available technology to classify cases of hypoxia into three cases: normal, suspicious, or pathological. Furthermore, Machine Learning (ML) is a blossoming technique constantly developing and aiding in medical studies, particularly fetal health prediction. Notwithstanding the past endeavors of health providers to detect hypoxia in fetuses, implementing ML and Deep Learning (DL) techniques ensures more timely and precise detection of fetal hypoxia by efficiently and accurately processing complex patterns in large datasets. Correspondingly, this review paper aims to explore the application of artificial intelligence models using cardiotocographic test data. The anticipated outcome of this review is to introduce guidance for future studies to enhance accuracy in detecting cases categorized within the suspicious class, an aspect that has encountered challenges in previous studies that holds significant implications for obstetricians in effectively monitoring fetal health and making informed decisions. [ABSTRACT FROM AUTHOR]

In recent years, the usage of wearable systems in healthcare has gained much attention, as they can be easily worn by the subject and provide a continuous source of data required for the tracking and diagnosis of multiple kinds of abnormalities or diseases in the human body. Wearable systems can be made useful in improving a patient's quality of life and at the same time reducing the overall cost of caring for individuals including the elderly. In this survey paper, the recent research in the development of intelligent wearable systems for the diagnosis of peripheral neuropathy is discussed. The paper provides detailed information about recent techniques based on different wearable sensors for the diagnosis of peripheral neuropathy including experimental protocols, biomarkers, and other specifications and parameters such as the type of signals and data processing methods, locations of sensors, the scales and tests used in the study, and the scope of the study. It also highlights challenges that are still present in order to make wearable devices more effective in the diagnosis of peripheral neuropathy in clinical settings. [ABSTRACT FROM AUTHOR]

Background: Classifications of AAFD/PCFD have evolved with an increased understanding of the pathology involved. A review of classification systems helps identify deficiencies and respective contributions to the evolution in understanding the classification of AAFD/PCFD. Methods: Using multiple electronic database searches (Medline, PubMed) and Google search, original papers classifying AAFD/PCFD were identified. Nine original papers were identified that met the inclusion criteria. Results: Johnson's original classification and multiple variants provided a significant leap in understanding and communicating the pathology but remained tibialis posterior tendon-focused. Drawbacks of these classifications include the implication of causality, linearity of progression through stages, an oversimplification of stage 2 deformity, and a failure to understand that multiple tendons react, not just tibialis posterior. Later classifications, such as the PCFD classification, are deformity-centric. Early ligament laxity/instability in normal attitude feet and all stages of cavus feet can present with pain and instability with minor/no deformity. These may not be captured in deformity-based classifications. The authors developed the 'Triple Classification' (TC) understanding that primary pathology is a progressive ligament failure/laxity that presents as tendon reactivity, deformity, and painful impingement, variably manifested depending on starting foot morphology. In this classification, starting foot morphology is typed, ligament laxities are staged, and deformity is zoned. Conclusions: This review has used identified deficiencies within classification systems for AAFD/PCFD to delink ligament laxity, deformity, and foot type and develop the 'Triple classification'. Advantages of the TC may include representing foot types with no deformity, defining complex secondary instabilities, delinking foot types, tendon reactivity/ligament instability, and deformity to represent these independently in a new classification system. Level of Evidence: Level V. [ABSTRACT FROM AUTHOR]

(1) Background: The rise in sedentary lifestyles has led to more spinal malformations in the population. These malformations are connected to the body's autonomic function, which can negatively impact long-term health. Heart rate variability can be used as a marker to measure how different postures affect autonomic health. This systematic review aims to explore the link between posture and heart rate variability and evaluate potential interventions to address the consequences of sedentary lifestyles. (2) Methods: Data sources: Studies exploring the relationship between posture and heart rate variability were found using PubMed, Embase, Web of Science, and Cochrane on 1 July 24. Eligibility criteria: People aged 18 years or above with a sedentary lifestyle were included. Studies involving children or participants with spinal/musculoskeletal conditions impacting their ability to walk or sit were excluded as they would not accurately reflect posture analysis. PRISMA guidelines were followed throughout, and the quality assessment was achieved using the QualSyst tool. (3) Results: Out of the 753 papers identified, only five met the eligibility criteria. These studies exhibited heterogeneity regarding interventions, aims, and participant populations. All five studies were prospective case series, enabling analysis and comparisons. (4) Conclusions: According to this study, the seated position, especially the forward truncal flexion, had the most significant impact on heart rate variability and sympathetic tone. It may be inferred that sedentary behavior encourages this stress on the body, which can affect one's health, increasing the mortality rate. [ABSTRACT FROM AUTHOR]

Since the 1950s, invasive prenatal diagnostics have played an integral role in perinatal management. However, its significance extends beyond detecting genetic abnormalities. This paper comprehensively reviews the indications for amniocentesis and chorionic villus sampling. Additionally, it examines various methods of genomic, infectious, and biochemical analysis, with a particular emphasis on the achievements of the last decade. [ABSTRACT FROM AUTHOR]

Detecting skeletal or bone-related deformities in model and aquaculture fish is vital for numerous biomedical studies. In biomedical research, model fish with bone-related disorders are potential indicators of various chemically induced toxins in their environment or poor dietary conditions. In aquaculture, skeletal deformities are affecting fish health, and economic losses are incurred by fish farmers. This survey paper focuses on showcasing the cutting-edge image analysis tools and techniques based on artificial intelligence that are currently applied in the analysis of bone-related deformities in aquaculture and model fish. These methods and tools play a significant role in improving research by automating various aspects of the analysis. This paper also sheds light on some of the hurdles faced when dealing with high-content bioimages and explores potential solutions to overcome these challenges. [ABSTRACT FROM AUTHOR]

Simple Summary: The cornerstone of successful treatment of hematologic diseases, including multiple myeloma (MM), is early diagnosis and establishing a prognosis for the patient. Therefore, it is necessary to identify sensitive and specific markers for this disease. Non-coding RNAs including miRNAs are increasingly being recognized as potential diagnostic, predictive, and prognostic markers. These molecules are non-coding, single-stranded RNAs that regulate the expression of many target genes involved in key biological processes, such as cell proliferation, differentiation, and apoptosis. This paper aims to identify the role of non-coding RNAs including miRNAs as potential markers for diagnosis and prognosis in patients with MM. Multiple myeloma (MM) is the second most common hematologic malignancy in the world and accounts for 15% of primary hemocytopathies, with an ever-increasing number of new cases. It is asymptomatic in 30% of instances; hence, the determination of highly sensitive and specific markers is necessary to make a proper diagnosis. In the last 20 years, miRNAs, involved in regulating the expression of genes responsible for cell proliferation and differentiation, including tumor cells, have been identified as potential diagnostic and prognostic markers. The main aim of the following review was to outline the role of miRNAs in the diagnosis and prognosis of MM, considering their role in the pathogenesis of the disease and identifying their target genes and pathways. For this purpose, publications dating from 2013–2023 have been reviewed. Based on the available data, it is concluded that non-coding RNAs including miRNAs could be potential markers in MM. Furthermore, they may serve as therapeutic targets for certain drugs. [ABSTRACT FROM AUTHOR]

Cytomegalovirus (CMV) can cause serious complications in immunocompromised individuals and fetuses with congenital infections. These can include neurodevelopmental impairments and congenital abnormalities in newborns. This paper emphasizes the importance of concurrently evaluating ultrasonography findings and laboratory parameters in diagnosing congenital CMV infection. To examine the prenatal characteristics of CMV DNA-positive patients, we assessed serum and amniotic fluid from 141 pregnant women aged 19–45 years, each with fetal anomalies. ELISA and PCR tests, conducted in response to these amniocentesis findings, were performed at an average gestational age of 25 weeks. Serological tests revealed that all 141 women were CMV IgG-positive, and 2 (1.41%) had low-avidity CMV IgG, suggesting a recent infection. CMV DNA was detected in 17 (12.05%) amniotic fluid samples using quantitative PCR. Of these, 82% exhibited central nervous system abnormalities. Given that most infections in pregnant women are undetectable and indicators non-specific, diagnosing primary CMV in pregnant women using clinical findings alone is challenging. We contend that serological tests should not be the sole means of diagnosing congenital CMV infection during pregnancy. [ABSTRACT FROM AUTHOR]

Coarctation of the aorta (CoA) is a congenital abnormality characterized by a narrowing of the aortic lumen, which can lead to significant morbidity and mortality if left untreated. Even after repair and despite significant advances in therapeutic management, these patients have overall reduced long-term survival due to the consequences of chronic afterload increase. Cardiovascular imaging is key from the first diagnosis to serial follow-up. In recent years, novel imaging techniques have emerged, increasing accessibility to advanced imaging modalities and enabling early and non-invasive identification of complications after repair. The aim of this paper is to provide a comprehensive review of the role of different imaging techniques in the evaluation and management of patients with native or repaired CoA, highlighting their unique strengths and limitations. [ABSTRACT FROM AUTHOR]

Simple Summary: A stillborn male kitten from an accidental inbreeding was examined through different paraclinical methods, such as radiographic, CT, and cytohistological examination, due to the existence of severe neural tube defects associated with other congenital defects. The malformations observed included exencephaly–anencephaly, closed cranial spina bifida at the level of cervical vertebrae, maxillary brachygnathia, kyphoscoliosis, palatoschisis, and partial intestinal atresia. These severe malformations have a multifactorial cause in which both genetic and environmental factors can intervene. Inbreeding increases the possibilities of genetic defects to be expressed in the phenotype. Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects. [ABSTRACT FROM AUTHOR]

Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland's syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth—affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia. [ABSTRACT FROM AUTHOR]

In this paper, we provide a comprehensive survey of the recent advances in abnormality detection in smart grids using multimodal image data, which include visible light, infrared, and optical satellite images. The applications in visible light and infrared images, enabling abnormality detection at short range, further include several typical applications in intelligent sensors deployed in smart grids, while optical satellite image data focus on abnormality detection from a large distance. Moreover, the literature in each aspect is organized according to the considered techniques. In addition, several key methodologies and conditions for applying these techniques to abnormality detection are identified to help determine whether to use deep learning and which kind of learning techniques to use. Traditional approaches are also summarized together with their performance comparison with deep-learning-based approaches, based on which the necessity, seen in the surveyed literature, of adopting image-data-based abnormality detection is clarified. Overall, this comprehensive survey categorizes and carefully summarizes insights from representative papers in this field, which will widely benefit practitioners and academic researchers. [ABSTRACT FROM AUTHOR]

Disease surveillance is used to monitor ongoing control activities, detect early outbreaks, and inform intervention priorities and policies. However, data from disease surveillance that could be used to support real-time decisionmaking remain largely underutilised. Using the Brazilian Amazon malaria surveillance dataset as a case study, in this paper we explore the potential for unsupervised anomaly detection machine learning techniques to discover signals of epidemiological interest. We found that our models were able to provide an early indication of outbreak onset, outbreak peaks, and change points in the proportion of positive malaria cases. Specifically, the sustained rise in malaria in the Brazilian Amazon in 2016 was flagged by several models. We found that no single model detected all anomalies across all health regions. Because of this, we provide the minimum number of machine learning models top-k models) to maximise the number of anomalies detected across different health regions. We discovered that the top three models that maximise the coverage of the number and types of anomalies detected across the thirteen health regions are principal component analysis, stochastic outlier selection, and the minimum covariance determinant. Anomaly detection is a potentially valuable approach to discovering patterns of epidemiological importance when confronted with a large volume of data across space and time. Our exploratory approach can be replicated for other diseases and locations to inform monitoring, timely interventions, and actions towards the goal of controlling endemic disease. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental illnesses characterized by difficulty in social communication, social interaction, and repetitive behaviors. These clinical diagnostic criteria can be seen in children as early as one year old and are commonly associated with long-term difficulties. ASD is connected with a higher frequency of various medical diseases such as gastrointestinal complaints, seizures, anxiety, interrupted sleep, and immunological dysfunction, in addition to the range of developmental abnormalities listed. Methods: From 1 January 2013 to 28 February 2023, we searched PubMed, Scopus and Web of Science for English-language papers that matched our topic. The following Boolean keywords were utilized in the search approach: "autism" AND "microbiota". After deleting duplicates, a total of 2370 publications were found from the databases, yielding 1222 articles. (1148). Nine hundred and eighty-eight items were excluded after their titles and abstracts were scrutinized. The method resulted in the removal of 174 items for being off-topic. The final 18 articles for qualitative analysis are included in the evaluation. Conclusion: The findings of this extensive study revealed that probiotics, prebiotics, their combination as synbiotics, fecal microbiota transplantation, and microbiota transfer therapy may benefit ASD patients suffering from both gastrointestinal and central nervous system symptoms. [ABSTRACT FROM AUTHOR]

Arteriovenous malformations (AVMs) are rare congenital defects of vascular development whose treatment remains challenging. The paper presents a retrospective single-center study of 14 patients with AVMs of the head and neck region undergoing combined endovascular and surgical treatment in a single day. AVM architecture and therapeutic strategies were determined on the basis of angiographic studies, while the psychological involvement of each patient was assessed by means of a questionnaire. Most of the 14 patients achieved satisfactory clinical results with no recurrences, good aesthetic and functional results, and most patients reported improved quality of life. The combined endovascular and surgical approach is an effective treatment for AVMs of the head and neck and performing it on the same day is a possible option often accepted by patients which guarantees operative advantages for the surgeon. [ABSTRACT FROM AUTHOR]

Tachypnoea in the newborn is common. It may arise from the many causes of the respiratory distress syndrome such as hyaline membrane disease, transient tachypnoea of the newborn, meconium aspiration etc. Congenital heart disease rarely presents with early tachypnoea on day one or two, in contrast to the early presentation of cyanosis, unless there is "pump" (ventricular) failure such as may occur in a cardiomyopathy/myocarditis, or as a result of severe obstruction to either ventricle. Space-occupying lesions within the chest, for example from a diaphragmatic hernia or a congenital cystic adenomatoid malformation, may present with early tachypnoea, as can a metabolic cause resulting in acidosis. The aim of this paper, however, is to focus on infants where the tachypnoea persists or develops beyond the newborn period, at times with minimal signs but occasionally with serious underlying pathology. They include causes that may have originated in the newborn but then persist; for example, arising from pulmonary hypoplasia or polycythemia. Many congenital cardiac abnormalities, particularly those causing left sided obstructive lesions, or those due to an increasing left to right shunt from large communications between the systemic and pulmonary circulations, need be considered. Respiratory causes, for example arising from aspiration, primary ciliary dyskinesia, cystic fibrosis, or interstitial lung disease, may lead to ongoing tachypnoea. Infective causes such as bronchiolitis or infantile wheeze generally are readily recognisable. Finally, there are a few infants who present with persistent tachypnoea over the first few weeks/months of their life who remain well and have normal investigations with the tachypnoea gradually resolving. How should one approach infants with persistent tachypnoea? [ABSTRACT FROM AUTHOR]

(1) Background: Sprengel’s deformity (SD) is a rare congenital anomaly caused by failure in the descent of the scapula. We aimed to systematically review the current literature reporting data from children undergoing surgery for SD, in order to explore the rate of success and complications of the different surgical techniques, possibly providing recommendations about the management of SD in children. (2) Methods: we electronically searched the literature from Ovid, MEDLINE and the Cochrane Library databases. Demographic data, surgical procedures, outcomes and complications were analyzed. We categorized surgical procedures into five groups. (3) Results: 41 articles met the inclusion criteria, showing a poor overall study quality; 674 patients (711 shoulders) were analyzed. Green’s and Woodward’s procedures, both aiming the scapular relocation in a more anatomical position, were the most commonly used techniques. We counted 168 adverse events (18 major complications). The best clinical and cosmetic results seem to be achieved when surgery is performed in children aged less than eight years. (4) Conclusions: this paper represents the first systematic review reporting qualitative and quantitative data about the surgical treatment of SD. Surgery for SD seems to be effective in increasing the shoulder’s range of motion and improving the cosmetic appearance in almost all cases, with a low rate of major complications. [ABSTRACT FROM AUTHOR]

Simple Summary: Congenital malformations in newborn dogs are still largely poorly understood and are inadequately treated, which leads to high mortality rates in these patients. This report describes the clinical signs, diagnosis and two types of management for the treatment of pectus excavatum in puppies, a malformation of the chest wall that can lead to progressive cardiorespiratory changes and progression to death. This case study assists veterinarians in the clinical approach of pectus excavatum to perform adequate medical conduct and ensure greater neonatal survival. Pectus excavatum is a deformity of the thorax characterized by ventrodorsal narrowing of the sternum bone and costal cartilages, which can lead to compression and cardiopulmonary alterations in dogs, presenting a high prevalence in brachycephalic breeds. The aim of this report was to describe two types of management for the noninvasive treatment of pectus excavatum in newborn puppies of the breeds French Bulldog and American Bully. The puppies presented dyspnea, cyanosis and substernal retraction during inspiration. The diagnosis was performed by physical examination and confirmed by chest X-ray. Two types of splints were performed (a circular splint with plastic pipe and a paper box splint on the chest), aiming at thoracic lateral compression and frontal chest remodeling. The management was effective for the conservative treatment of mild-grade pectus excavatum, resulting in the repositioning of the thorax and improvement of the respiratory pattern. [ABSTRACT FROM AUTHOR]

Colorectal cancer is one of the most common malignancies and the leading cause of cancer death worldwide. Wireless capsule endoscopy is currently the most frequent method for detecting precancerous digestive diseases. Thus, precise and early polyps segmentation has significant clinical value in reducing the probability of cancer development. However, the manual examination is a time-consuming and tedious task for doctors. Therefore, scientists have proposed many computational techniques to automatically segment the anomalies from endoscopic images. In this paper, we present an end-to-end 2D attention residual U-Net architecture (AttResU-Net), which concurrently integrates the attention mechanism and residual units into U-Net for further polyp and bleeding segmentation performance enhancement. To reduce outside areas in an input image while emphasizing salient features, AttResU-Net inserts a sequence of attention units among related downsampling and upsampling steps. On the other hand, the residual block propagates information across layers, allowing for the construction of a deeper neural network capable of solving the vanishing gradient issue in each encoder. This improves the channel interdependencies while lowering the computational cost. Multiple publicly available datasets were employed in this work, to evaluate and verify the proposed method. Our highest-performing model was AttResU-Net, on the MICCAI 2017 WCE dataset, which achieved an accuracy of 99.16%, a Dice coefficient of 94.91%, and a Jaccard index of 90.32%. The experiment findings show that the proposed AttResU-Net overcomes its baselines and provides performance comparable to existing polyp segmentation approaches. [ABSTRACT FROM AUTHOR]

At present, in order to comply with the development of the "the Belt and Road Initiatives", the country is accelerating the pace of construction and increasing the demand for construction river sand. However, the quality of construction river sand is uncontrollable, and its shape is very similar to that of weathered sand. Therefore, using inferior weathered sand and mixed sand as inferior substitute sand in the market is prohibited, resulting in an increase in the difficulty coefficient of quality control of concrete fine aggregate in actual projects. This lays hidden dangers for the construction quality of the project. It is urgent to improve the quality control, testing, and detection process of river sand. Due to the long-term weathering of weathered sand, its density is small, and there are many pores, which leads to the material's water absorption rate is higher than that of standard sand and river sand during fluidity tests. This paper takes this as a breakthrough point, reveals the variation law of fluidity loss under different variables, and explores a method for effectively screening low-quality sand and gravel. Through the silt content test (screening and washing method), the low-quality sand is preliminarily screened out, the mortar ratio is designed, and the fluidity test is carried out to compare the difference in fluidity loss of different types of mortar; determine the loss threshold range (mobility loss ≤ 15 mm) according to the mobility test results of the control group, and determine the qualification standard by comparing the measured mobility loss of the unknown sample with the loss threshold range. When the mobility loss is within the loss threshold range, the sample is qualified river sand. Otherwise, it is weathered sand or chowder sand. This method establishes a complete detection scheme for distinguishing weathered sand and river sand through mud content tests and mobility loss tests, solves the difficult problem of river sand quality control in engineering applications, and effectively eliminates the phenomenon of using low-quality weathered sand as river sand in the sand and gravel material market, thus avoiding congenital defects in concrete homogeneity. [ABSTRACT FROM AUTHOR]

The 6-axis external fixation mechanism with Gough-Stewart configuration has been widely applied to the correction of long bone deformities in orthopedics. Pose recognition of the mechanism is essential for trajectory planning of bone correction, but is usually implemented by the surgeons' experience, resulting in a relatively low level of correction accuracy. This paper proposes a pose recognition method based on novel image markers, and implements accuracy analysis. Firstly, a pose description of the mechanism is established with several freely installed markers, and the layout of the markers is also parametrically described. Then, a pose recognition method is presented by identifying the orientation and position parameters using the markers. The recognition method is general in that it encompasses all possible marker layouts, and the recognition accuracy is investigated by analyzing variations in the marker layout. On this basis, layout principles for markers that achieve a desired recognition accuracy are established, and an error compensation strategy for precision improvement is provided. Finally, experiments were conducted. The results show that volume errors of pose recognition were 0.368 ± 0.130 mm and 0.151 ± 0.045°, and the correction accuracy of the fracture model after taking compensation was 0.214 ± 0.573 mm and −0.031 ± 0.161°, validating the feasibility and accuracy of the proposed methods. [ABSTRACT FROM AUTHOR]

The authors demonstrated that adolescent idiopathic scoliosis (AIS) patients with flexible curves can be treated with temporary posterior instrumentation including the lumbar spine. Fusionless All-Pedicle Screws for Posterior Deformity Correction in AIS Immature Patients Permit the Restoration of Normal Vertebral Morphology and Removal of the Instrumentation Once Bone Maturity Is Reached. With great interest, we read the recently published paper "Fusionless All-Pedicle Screws for Posterior Deformity Correction in AIS Immature Patients Permit the Restoration of Normal Vertebral Morphology and Removal of the Instrumentation Once Bone Maturity is Reached" by Burgos et al. [[1]]. [Extracted from the article]

Tissue engineering is an emerging field to create functional tissue components and whole organs. The structural and functional defects caused by congenital malformation, trauma, inflammation or tumor are still the major clinical challenges facing modern urology, and the current treatment has not achieved the expected results. Recently, 3D bioprinting has gained attention for its ability to create highly specialized tissue models using biological materials, bridging the gap between artificially engineered and natural tissue structures. This paper reviews the research progress, application prospects and current challenges of 3D bioprinting in urology tissue engineering. [ABSTRACT FROM AUTHOR]

The sound stimulus received by the pinna is transmitted to the oval window of the inner ear via the outer ear and middle ear. Assuming that the perilymph in the scala vestibuli and scala tympani is compressible, we report that the sound wave generated in the cochlea due to the vibration of the oval window can be expressed by the combination of even and odd symmetric sound wave modes. Based on this new approach, this paper studies the cause of hearing deterioration in the lower frequency region seen in round window atresia from the viewpoint of cochlear acoustics. Round window atresia is an auditory disease in which the round window is ossified and its movement is restricted. Using the finite element method, a round window atresia model was designed and the acoustic behavior of the round window was discussed corresponding to the level of disease. From this, we report that the healthy round window works as a free-end reflector to the incident sound waves, but it also works as a fixed-end reflector in the case of round window atresia. Next, we incorporated the round window atresia model into a cochlear model and performed a simulation in order to determine the acoustic aspects of the cochlea as a whole. The simulation results indicate that hearing deterioration occurs in a lower frequency range, which is also coincident with the clinical reports (hearing deterioration of approximately 10 to 20 dB below 4000 Hz). Finally, we explain that the cause of hearing deterioration due to round window atresia is considered to be the even sound wave mode enlarging due to the fixed-end reflection at the ossified round window, and, as a result, the odd sound wave mode that generates the Békésy's traveling wave on a basilar membrane is significantly weakened. [ABSTRACT FROM AUTHOR]

This paper describes the contemporary state of knowledge regarding processes that regulate normal development of the embryonic–fetal central nervous system (CNS). The processes are described according to the developmental timetable: dorsal induction, ventral induction, neurogenesis, neuronal migration, post-migration neuronal development, and cortical organization. We review the current literature on CNS malformations associated with these regulating processes. We specifically address neural tube defects, holoprosencephaly, malformations of cortical development (including microcephaly, megalencephaly, lissencephaly, cobblestone malformations, gray matter heterotopia, and polymicrogyria), disorders of the corpus callosum, and posterior fossa malformations. Fetal ventriculomegaly, which frequently accompanies these disorders, is also reviewed. Each malformation is described with reference to the etiology, genetic causes, prenatal sonographic imaging, associated anomalies, differential diagnosis, complimentary diagnostic studies, clinical interventions, neurodevelopmental outcome, and life quality. [ABSTRACT FROM AUTHOR]

Loss of lumbar lordosis in flatback patients leads to changes in the walking mechanism like knee flexion. Such variations in flatback patients are predicted to alter the characteristics of total knee replacement (TKR) contact, so their TKR will show different wear characteristics with a normal gait. However, the relevant study is limited to predicting the wear depth of TKR for normal gait mechanisms or collecting and analyzing kinematic data on flatback gait mechanisms. The objective of this study was to compare wear in TKR of flatback patients with people without flatback syndrome. The main difference between the normal gait mechanism and the flat back gait mechanism is the knee flexion remain section and the tendency to change the vertical force acting on the knee. Thus, in this paper, A finite element-based computational wear simulation for the gait cycle using kinematic data for normal gait and flat gait were performed, and substituting the derived contact pressure and slip distance into the Archard formula, a proven wear model, wear depth was predicted. The FE analysis results show that the wear volume in flatback patients is greater. The results obtained can provide guidance on the TKR design to minimize wear on the knee implant for flatback patients. [ABSTRACT FROM AUTHOR]

Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations. [ABSTRACT FROM AUTHOR]

Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed. [ABSTRACT FROM AUTHOR]

In this paper, the author enumerates cardiac defects with a functionally single ventricle, summarizes single ventricle physiology, presents a summary of management strategies to address the single ventricle defects, goes over the steps of staged total cavo-pulmonary connection, cites the prevalence of inter-stage mortality, names the causes of inter-stage mortality, discusses strategies to address the inter-stage mortality, reviews post-Fontan issues, and introduces alternative approaches to Fontan circulation. [ABSTRACT FROM AUTHOR]

Since the recognition of fetal alcohol syndrome, alcohol has been accepted as a human teratogen. However, little is known about the relation between prenatal alcohol exposure and the spectrum of associated major birth defects. The objective of this review was to summarize data on the association of major congenital abnormalities and prenatal alcohol exposure. We included all major birth defects according to ICD-10 classification. We found that the strongest evidence to date lies in the research examining herniation (gastroschisis and omphalocele), oral clefts (cleft lip with or without palate and cleft palate) and cardiac defects. There is less consistent evidence supporting the association between prenatal alcohol exposure and anomalies of gastrointestinal system, diaphragmatic hernia, genitourinary system and neural tube defects. We found no material support for PAE and choanal atresia, biliary atresia or clubfoot. [ABSTRACT FROM AUTHOR]

Pesticide exposure has deleterious effects on human health and development; however, no review has been conducted on human exposure to pesticides and the risk of congenital malformations and cancer in the same cohort. We systematically reviewed the evidence for this relationship following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Four databases, namely, PubMed, Scopus, Cochrane Library, and BVS, were searched for studies deposited till July 2020 that examined the influence of pesticide exposure on congenital malformations and cancer outcomes in the same cohort. Seven studies were systematically included in this review. Among these, four were case–control studies, two were cross-sectional studies, and one was a longitudinal cohort study. The sources of contamination were food, water, or exposure during agricultural work. A link between the occurrence of cancer, congenital malformations, and exposure to pesticides was observed in most studies. [ABSTRACT FROM AUTHOR]

Background: Cleft lip and palate is an anomaly that affects both women and men. It is considered to be among the most frequent congenital abnormalities and is related to modifications in chromosomal DNA and multiple genetic alterations. This anomaly can also be associated with various environmental factors, such as tobacco and alcohol consumption, medication use, and exposure to different environmental and industrial toxic substances. The objective of this study was to document the frequency of risk factors related to cleft lip and palate through a systematic review of Mexican studies. Methods: In this systematic review, a bibliographic search was conducted following PRISMA guidelines in the databases Scielo, ScienceDirect, PubMed, and EBSCO. Keywords related to cleft lip and palate, epidemiology, and risk factors were used. In all, 3 independent reviewers (J.A.S.L., S.L.V., and N.M.F.) selected and evaluated a total of 17 articles included in this analysis, achieving a coefficient of κ = 0.84. Results: The analysis revealed that the highest frequency of conducted studies was in the State of Mexico. The most common risk factors identified were environmental, pharmacological, consumption habits, and gynecological factors. Conclusions: Identifying the main risk factors for cleft lip and palate in the Mexican population will enable the implementation of preventive measures aimed at reducing exposure to these factors. Additionally, early intervention can improve the quality of life for individuals affected by this condition. [ABSTRACT FROM AUTHOR]

Dental abnormalities are often detected in childhood and are reported to occur with high prevalence in patients who have undergone cancer treatment or chemotherapy. We performed a literature search of PubMed from 2004 to 2024 using the terms "dental anomaly" and "panoramic examination", and 298 potentially relevant articles were found. Thirty-one articles about dental abnormalities matched the eligibility criteria and were extracted for this review. Although the prevalence of tooth agenesis and microdontia in the general population was reported to be approximately 10% and 3%, respectively, the prevalence in patients who had undergone cancer treatment or chemotherapy was higher in all surveys, suggesting that the treatment is related to the occurrence of dental abnormalities. It is important to continue long-term follow-up with patients not only during treatment but also after the completion of treatment. Dental professionals should provide information about dental abnormalities to patients, their guardians, and medical professionals, which may lead to improvement in the quality of life of patients. [ABSTRACT FROM AUTHOR]

Cardiac amyloidosis is an infiltrative disease primarily caused by extracellular tissue deposition of amyloid fibrils in the myocardial interstitium. The aim of the present review was to summarize findings regarding changes in myocardial mechanics, valvular abnormalities, and vascular remodeling detected in patients with cardiac amyloidosis. [ABSTRACT FROM AUTHOR]

Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. "Structural anomalies" include non-transient anatomic alterations. "Soft markers" are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as "dynamic". This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA. [ABSTRACT FROM AUTHOR]

A few studies have explored the relationship between air pollution exposure and the risk of birth defects; however, the ozone-related (O3) effects on preconception and first-trimester exposures are still unknown. In this time-stratified case-crossover study, conditional logistic regressions were applied to explore the associations between O3 exposure and the risk of birth defects in Chongqing, China, and stratified analyses were constructed to evaluate the modifiable factors. A total of 6601 cases of birth defects were diagnosed, of which 56.16% were male. O3 exposure was associated with an increased risk of birth defects, and the most significant estimates were observed in the first month before pregnancy: a 10 ug/m3 increase of O3 was related to an elevation of 4.2% [95% confidence interval (CI), 3.4–5.1%]. The associations between O3 exposure and congenital malformations and deformations of the musculoskeletal system were statistically significant during almost all exposure periods. Pregnant women with lower education and income, and from rural areas, were more susceptible to O3 exposure, with the strongest odds ratios (ORs) of 1.066 (95%CI, 1.046–1.087), 1.086 (95%CI, 1.034–1.140), and 1.053 (95%CI, 1.034–1.072), respectively. Our findings highlight the health risks of air pollution exposure and raise awareness of pregnant women's vulnerability and the susceptibility window period. [ABSTRACT FROM AUTHOR]

Herlyn–Werner–Wunderlich (HWW) syndrome is characterized by obstructed hemivagina and ipsilateral renal anomaly, a rare congenital anomaly of the genitourinary tract, resulting from malformations of the renal tract associated with Müllerian duct anomalies. The initial symptoms of HWW frequently present after menarche and may be nonspecific, leading to a delayed diagnosis. We presented a 19-year-old female with 3-year hematuria and abdominal pain. The final diagnosis of HWW syndrome with a rare vesicovaginal fistula was made. The treatment of HWW syndrome typically involves surgical intervention. The primary treatment is resection or removal of the obstructed vaginal septum. The patient underwent excision of vaginal septum and vaginal reconstruction via hysteroscopy, as well as repair of the vesicovaginal fistula. The patient improved well after surgery and fully recovered without sequelae after 3 months. In addition, unilateral renal agenesis is one of congenital abnormalities of the kidney and urinary tract, which are the most frequent cause of chronic kidney disease (CKD) in children. This report describes a patient of HWW syndrome with rarely combined vesicovaginal fistula, and highlights the importance of early recognition and management to prevent associated complications. [ABSTRACT FROM AUTHOR]

Simple Summary: Our findings confirm the role of developmental aspects in extracranial germ cell tumors (eGCTs). Strong associations between syndromes or congenital anomalies and eGCTs may hint at the need for research to identify potential causes and mechanisms. Strong effects were observed for Swyer and Currarino syndrome. The strengths of the associations emphasize the need for further elaboration on presently discussed pathophysiological mechanisms. For other suggested risk factors such as Klinefelter, Turner, and Down syndrome, the strength of risk appears to be substantially low and may be missed because of diagnostic bias for the first two or lack of power for the latter. A number of further syndromes were identified in single cases. Most of these pertain to girls. GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included. According to Teilum's holistic concept, malignant and benign teratomas were registered. We used a case–control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated and p-values for Fisher's exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7–2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2–88.6). We additionally found 16 isolated cases of eGCT with a wide range of syndromes. However, these were not found to be significantly associated following Bonferroni correction. Most of these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study, we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies. [ABSTRACT FROM AUTHOR]

AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II and class III patients using artificial intelligence and the potential use for indicating orthognathic surgery. The search strategy is from 1943 to April 2024 in PubMed, Embase, Scopus, Lilacs, and Web of Science. Studies that used imaging to assess anatomical structures, airway volume, and craniofacial positions using the AI algorithm in the human population were included. The methodological quality of the studies was assessed using the Effective Public Health Practice Project instrument. The systematic search identified 697 articles. Eight studies were obtained for descriptive analysis after exclusion according to our inclusion and exclusion criteria. All studies were retrospective in design. A total of 5552 subjects with an age range between 14.7 and 56 years were obtained; 2474 (44.56%) subjects were male, and 3078 (55.43%) were female. Six studies were analyzed using 2D imaging and obtained highly accurate results in diagnosing skeletal features and determining the need for orthognathic surgery, and two studies used 3D imaging for measurement and diagnosis. Limitations of the studies such as age, diagnosis in facial deformity, and the included variables were observed. Concerning the overall analysis bias, six studies were at moderate risk due to weak study designs, while two were at high risk of bias. We can conclude that, with the few articles included, using AI-based software allows for some craniometric recognition and measurements to determine the diagnosis of facial deformities using mainly 2D analysis. However, it is necessary to perform studies based on three-dimensional images, increase the sample size, and train models in different populations to ensure accuracy of AI applications in this field. After that, the models can be trained for dentofacial diagnosis [ABSTRACT FROM AUTHOR]

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as "intellectual developmental disorder with language impairment with or without autistic features" (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous FOXP1 variant, namely, a four-year-old boy and 14-month-old girl. Both children have significantly delayed early psychomotor development, hypotonia, and very similar, slightly dysmorphic facial features. A lack of expressive speech was the leading symptom in the case of the four-year-old boy. We performed whole-exome sequencing on the male patient, which identified a pathogenic heterozygous c.1541G>A (p.Arg514His) FOXP1 mutation. His sister's targeted mutation analysis also showed the same heterozygous FOXP1 variant. Segregation analysis revealed the de novo origin of the mutation, suggesting the presence of parental gonadal mosaicism. To the best of our knowledge, this is the first report of gonadal mosaicism in FOXP1-related neurodevelopmental disorders in the medical literature. [ABSTRACT FROM AUTHOR]

Bisphenol S (BPS), one of the substitutes for bisphenol A (BPA), is widely used in various commodities. The BPS concentrations in surface water have gradually increased in recent years, making it a predominant bisphenol analogue in the aquatic environment and raising concerns about its health and ecological effects on aquatic organisms. For this study, we conducted a 96 h acute toxicity test and a 15-day developmental exposure test to assess the adverse effects of BPS exposure in Chinese medaka (Oryzias sinensis), a new local aquatic animal model. The results indicate that the acute exposure of Chinese medaka embryos to BPS led to relatively low toxicity. However, developmental exposure to BPS was found to cause developmental abnormalities, such as decreased hatching rate and body length, at 15 dpf. A transcriptome analysis showed that exposure to different concentrations of bisphenol S often induced different reactions. In summary, environmental concentrations of BPS can have adverse effects on the hatching and physical development of Chinese medaka, and further attention needs to be paid to the potential toxicity of environmental BPS. [ABSTRACT FROM AUTHOR]

Diabetes exposure during pregnancy affects health outcomes in offspring; however, little is known about in utero exposure to preexisting parental youth-onset type 2 diabetes. Offspring born to participants during the Treatment Options for Type 2 Diabetes in Adolescent and Youth (TODAY) study were administered a questionnaire at the end of the study. Of 457 participants, 37% of women and 18% of men reported 228 offspring, 80% from female participants. TODAY mothers had lower household income (<$25,000) compared to TODAY fathers (69.4% vs. 37.9%, p = 0.0002). At 4.5 years of age (range 0–18 years), 16.7% of offspring were overweight according to the parental report of their primary care provider, with no sex difference. Offspring of TODAY mothers reported more daily medication use compared to TODAY fathers (50/183, 27.7% vs. 6/46, 12.2%, [p = 0.04]), a marker of overall health. TODAY mothers also reported higher rates of recidivism (13/94) than TODAY fathers (0/23). An Individualized Education Plan was reported in 20/94 (21.3%) offspring of TODAY mothers compared to 2/23 (8.7%) of TODAY fathers. This descriptive study, limited by parental self-reports, indicated offspring of participants in TODAY experience significant socioeconomic disadvantages, which, when combined with in utero diabetes exposure, may increase their risk of health and educational disparities. [ABSTRACT FROM AUTHOR]

Limb anomalies are widespread and diversified in arthropods. From trilobites to insects, they range from the loss to the addition or fusion of legs and may appear congenitally or be induced experimentally (e.g., amputation or injury). Basal chelicerates pycnogonids, or sea spiders, also show deformities. Despite being understudied compared to other arthropods, quite a high diversity of limb malformations has been reported in the literature. The present study reports the leg anomalies of two adult females Ammothea hilgendorfi (Böhm, 1879) observed with duplicated leg podomeres. Both individuals were described ethologically and morphologically. Although the current knowledge on pycnogonids is limited, the anomaly is likely due to a problem in the molting process; the specimens were unable to totally remove their old exuviae, which then stacked after the proximal leg segments. The second specimen also showed other leg deformities, hinting at a problem during the molting process itself. The discussion emphasizes that understanding how pycnogonids normally molt would not only help our understanding of how the abnormal patterns appeared but also put pycnogonids into perspective with other arthropods, a phylum in which they have a key taxonomic position. [ABSTRACT FROM AUTHOR]

Loss-of-function mutations in the TLDc family of proteins cause a range of severe childhood-onset neurological disorders with common clinical features that include cerebellar neurodegeneration, ataxia and epilepsy. Of these proteins, oxidation resistance 1 (OXR1) has been implicated in multiple cellular pathways related to antioxidant function, transcriptional regulation and cellular survival; yet how this relates to the specific neuropathological features in disease remains unclear. Here, we investigate a range of loss-of-function mouse model systems and reveal that constitutive deletion of Oxr1 leads to a rapid and striking neuroinflammatory response prior to neurodegeneration that is associated with lysosomal pathology. We go on to show that neuroinflammation and cell death in Oxr1 knockouts can be completely rescued by the neuronal expression of Oxr1, suggesting that the phenotype is driven by the cell-intrinsic defects of neuronal cells lacking the gene. Next, we generate a ubiquitous, adult inducible knockout of Oxr1 that surprisingly displays rapid-onset ataxia and cerebellar neurodegeneration, establishing for the first time that the distinctive pathology associated with the loss of Oxr1 occurs irrespective of developmental stage. Finally, we describe two new homozygous human pathogenic variants in OXR1 that cause neurodevelopmental delay, including a novel stop-gain mutation. We also compare functionally two missense human pathogenic mutations in OXR1, including one newly described here, that cause different clinical phenotypes but demonstrate partially retained neuroprotective activity against oxidative stress. Together, these data highlight the essential role of Oxr1 in modulating neuroinflammatory and lysosomal pathways in the mammalian brain and support the hypothesis that OXR1 protein dosage may be critical for pathological outcomes in disease. [ABSTRACT FROM AUTHOR]

Complex urogenital malformations are clinically highly relevant; thus, they must be appropriately diagnosed and classified before initiating treatment. Background/Objectives: This study aimed to evaluate the applicability and suitability of the embryological–clinical classification of female genital malformations. Methods: A systematic review of cases of genital malformations reported in the literature from 2000 to 2020 was conducted. Case reports and series with the following combinations: "female genital tract" AND (malformation OR anomaly OR müllerian anomaly OR uterine anomaly OR cervical anomaly OR vaginal anomaly OR cloacal anomaly OR urogenital sinus); and "female genital tract" AND (renal agenesis OR ectopic ureter) were searched. A total of 3124 articles were identified, of which 824 cases of genital malformation were extracted. The characteristics of each malformation were included in a database for further analyses. Results: Using the embryological–clinical classification, 89.9% of the published cases and 86.5% of the 52 cases defined as unclassifiable by their authors have been classified in this review. In 73 cases (72.2%), the classification of the malformation using the AFS system was incomplete because although the type of uterine anomaly of the AFS classification matched that of the embryological–clinical classification, characteristics of the urinary system or the vagina were overlooked when using the AFS system. Following a dispersion matrix, we have been able to show that the embryological–clinical classification system is able to classify and subclassify the genitourinary malformations more accurately. Conclusions: The applicability of the embryological–clinical classification has been confirmed after classifying most of the cases of genital malformation previously published. This system also provides a more complete and accurate classification than other classifying systems exclusively based on Müllerian duct development or uterovaginal parameters, demonstrating its suitability. [ABSTRACT FROM AUTHOR]

Axial postural abnormalities (APAs), characterized by their frequency, disabling nature, and resistance to pharmacological treatments, significantly impact Parkinson's disease and atypical Parkinsonism patients. Despite advancements in diagnosing, assessing, and understanding their pathophysiology, managing these complications remains a significant challenge. Often underestimated by healthcare professionals, these disturbances can exacerbate disability. This systematic review assesses botulinum toxin treatments' effectiveness, alone and with rehabilitation, in addressing APAs in Parkinson's disease, utilizing MEDLINE (PubMed), Web of Science, and SCOPUS databases for source material. Of the 1087 records retrieved, 16 met the selection criteria. Most research has focused on botulinum toxin (BoNT) as the primary treatment for camptocormia and Pisa syndrome, utilizing mostly observational methods. Despite dose and injection site variations, a common strategy was using electromyography-guided injections, occasionally enhanced with ultrasound. Patients with Pisa syndrome notably saw consistent improvements in APAs and pain. However, studies on the combined effects of botulinum toxin and rehabilitation are limited, and antecollis is significantly under-researched. These findings recommend precise BoNT injections into hyperactive muscles in well-selected patients by skilled clinicians, avoiding compensatory muscles, and underscore the necessity of early rehabilitation. Rehabilitation is crucial in a multidisciplinary approach to managing APAs, highlighting the importance of a multidisciplinary team of experts. [ABSTRACT FROM AUTHOR]

Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the corpus callosum, cerebellar hypoplasia, and enlarged ventricles. We present a non-consanguineous northern European family with two recurrent cases of FS: a boy with multiple congenital malformations who died at the age of 2.5 months and a female fetus with a complex developmental disorder with similar features in a following pregnancy. Quad whole exome analysis revealed two likely splicing-affecting disease-causing mutations in the PIGN gene: a synonymous mutation c.2619G>A, p.(Leu873=) in the last nucleotide of exon 29 and a 30 bp-deletion c.996_1023+2del (NM_176787.5) protruding into intron 12, with both mutations in trans configuration in the affected patients. Exon skipping resulting from these two variants was confirmed via RNA sequencing. Our molecular and clinical findings identified compound heterozygosity for two novel splice-affecting variants as the underlying pathomechanism for the development of FS in two patients. [ABSTRACT FROM AUTHOR]

This paper describes a case of partial lack of the mesocolon in a 7-month-old colt. The foal was referred to the hospital with clinical signs of severe abdominal distension of a few hours duration. Because analgesics did not relieve pain, the foal remained uncomfortable, and distension of the abdomen increased; an exploratory laparotomy was performed under general anaesthesia in dorsal recumbency. The final diagnosis was confirmed intraoperatively. During exploration of the abdominal cavity, other problems like right dorsal displacement and torsion of the colon were recognized. Correction of all problems was completed, and the mesentery was sutured. Recovery from anaesthesia was uneventful. The foal was recovering well a few months after surgery, and the owner did not complain about the results of the treatment. [ABSTRACT FROM AUTHOR]