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BMC Pediatrics May 2024Noonan syndrome (NS) is a rare genetic disease, and patients who suffer from it exhibit a facial morphology that is characterized by a high forehead, hypertelorism,...
BACKGROUND
Noonan syndrome (NS) is a rare genetic disease, and patients who suffer from it exhibit a facial morphology that is characterized by a high forehead, hypertelorism, ptosis, inner epicanthal folds, down-slanting palpebral fissures, a highly arched palate, a round nasal tip, and posteriorly rotated ears. Facial analysis technology has recently been applied to identify many genetic syndromes (GSs). However, few studies have investigated the identification of NS based on the facial features of the subjects.
OBJECTIVES
This study develops advanced models to enhance the accuracy of diagnosis of NS.
METHODS
A total of 1,892 people were enrolled in this study, including 233 patients with NS, 863 patients with other GSs, and 796 healthy children. We took one to 10 frontal photos of each subject to build a dataset, and then applied the multi-task convolutional neural network (MTCNN) for data pre-processing to generate standardized outputs with five crucial facial landmarks. The ImageNet dataset was used to pre-train the network so that it could capture generalizable features and minimize data wastage. We subsequently constructed seven models for facial identification based on the VGG16, VGG19, VGG16-BN, VGG19-BN, ResNet50, MobileNet-V2, and squeeze-and-excitation network (SENet) architectures. The identification performance of seven models was evaluated and compared with that of six physicians.
RESULTS
All models exhibited a high accuracy, precision, and specificity in recognizing NS patients. The VGG19-BN model delivered the best overall performance, with an accuracy of 93.76%, precision of 91.40%, specificity of 98.73%, and F1 score of 78.34%. The VGG16-BN model achieved the highest AUC value of 0.9787, while all models based on VGG architectures were superior to the others on the whole. The highest scores of six physicians in terms of accuracy, precision, specificity, and the F1 score were 74.00%, 75.00%, 88.33%, and 61.76%, respectively. The performance of each model of facial recognition was superior to that of the best physician on all metrics.
CONCLUSION
Models of computer-assisted facial recognition can improve the rate of diagnosis of NS. The models based on VGG19-BN and VGG16-BN can play an important role in diagnosing NS in clinical practice.
Topics: Humans; Noonan Syndrome; Child; Female; Male; Child, Preschool; Neural Networks, Computer; Infant; Adolescent; Automated Facial Recognition; Diagnosis, Computer-Assisted; Sensitivity and Specificity; Case-Control Studies
PubMed: 38783283
DOI: 10.1186/s12887-024-04827-7 -
The Lancet Regional Health. Western... Jun 2024A variety of symptoms, particularly cognitive, psychiatric and neurological symptoms, may persist for a long time among individuals recovering from COVID-19. However,...
BACKGROUND
A variety of symptoms, particularly cognitive, psychiatric and neurological symptoms, may persist for a long time among individuals recovering from COVID-19. However, the underlying mechanism of these brain abnormalities remains unclear. This study aimed to investigate the long-term neuroimaging effects of COVID-19 infection on brain functional activities using resting-state functional magnetic resonance imaging (rs-fMRI).
METHODS
Fifty-two survivors 27 months after infection (mild-moderate group: 25 participants, severe-critical: 27 participants), from our previous community participants, along with 35 healthy controls, were recruited to undergo fMRI scans and comprehensive cognitive function measurements. Participants were evaluated by subjective assessment of Cognitive Failures Questionnaire-14 (CFQ-14) and Fatigue Scale-14 (FS-14), and objective assessment of Montreal Cognitive Assessment (MoCA), N-back, and Simple Reaction Time (SRT). Each had rs-fMRI at 3T. Measures such as the amplitude of low-frequency fluctuation (ALFF), fractional amplitude of low-frequency fluctuations (fALFF), and regional homogeneity (ReHo) were calculated.
FINDINGS
Compared with healthy controls, survivors of mild-moderate acute symptoms group and severe-critical group had a significantly higher score of cognitive complains involving cognitive failure and mental fatigue. However, there was no difference of cognitive complaints between two groups of COVID-19 survivors. The performance of three groups was similar on the score of MoCA, N-back and SRT. The rs-fMRI results showed that COVID-19 survivors exhibited significantly increased ALFF values in the left putamen (PUT.L), right inferior temporal gyrus (ITG.R) and right pallidum (PAL.R), while decreased ALFF values were observed in the right superior parietal gyrus (SPG.R) and left superior temporal gyrus (STG.L). Additionally, decreased ReHo values in the right precentral gyrus (PreCG.R), left postcentral gyrus (PoCG.L), left calcarine fissure and surrounding cortex (CAL.L) and left superior temporal gyrus (STG.L). Furthermore, significant negative correlations between the ReHo values in the STG.L, and CFQ-14 and mental fatigue were found.
INTERPRETATION
This long-term study suggests that individuals recovering from COVID-19 continue to experience cognitive complaints, psychiatric and neurological symptoms, and brain functional alteration. The rs-fMRI results indicated that the changes in brain function in regions such as the putamen, temporal lobe, and superior parietal gyrus may contribute to cognitive complaints in individuals with long COVID even after 2-year infection.
FUNDING
The National Programs for Brain Science and Brain-like Intelligence Technology of China, the National Natural Science Foundation of China, Natural Science Foundation of Beijing Municipality of China, and the National Key Research and Development Program of China.
PubMed: 38774424
DOI: 10.1016/j.lanwpc.2024.101086 -
The Journal of Clinical Pediatric... May 2024Patients being reported for vitamin D deficiency (VDD) are increasing, particularly among the children and adolescents. This study aims to manifest the clinical and...
Patients being reported for vitamin D deficiency (VDD) are increasing, particularly among the children and adolescents. This study aims to manifest the clinical and dental evaluations of a child with VDD, referred to the dental office. A 10-year-old British Asian boy was referred to the paediatric specialist dentistry clinic by the general dentist for dental management. The medical history depicted that the patient was diagnosed with VDD, secondary hyperparathyroidism and delayed growth. Moreover, his mother had the VDD during pregnancy. The patient was breast fed and had rickets in infancy. He was prescribed vitamin D supplements at the age of 16 months. He had received multiple dental treatments under local anaesthesia but with limited cooperation. Clinical examination revealed that the patient had chronological enamel hypoplasia shown as bands at the occlusal third on specific teeth. Suboptimal hygiene with general plaque induced gingivitis, dental caries in permanent and primary teeth, and delayed the teeth eruption. Preventions included appropriate oral hygiene and dietary advice, fluoride varnish application and fissure sealant placement. The treatments included anterior direct composite restoration, posterior composite restoration, stainless steel crowns and extractions. Thorough medical history is essential to understand the underlying causes of dental defects. Early dental intervention can restore the patient appearance and function and prevent further dental damage.
Topics: Humans; Male; Dental Enamel Hypoplasia; Child; Vitamin D Deficiency; Hyperparathyroidism, Secondary; Dental Caries; Pit and Fissure Sealants; Growth Disorders; Crowns; Rickets; Gingivitis; Pregnancy; Dental Restoration, Permanent; Female; Tooth Extraction
PubMed: 38755997
DOI: 10.22514/jocpd.2024.072 -
Revista Paulista de Pediatria : Orgao... 2024To understand the experience of young people with orofacial clefts regarding life as an adolescent.
OBJECTIVE
To understand the experience of young people with orofacial clefts regarding life as an adolescent.
METHODS
Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality.
RESULTS
Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice.
CONCLUSIONS
The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.
Topics: Humans; Cleft Palate; Cleft Lip; Adolescent; Female; Male; Qualitative Research; Child; Young Adult; Adaptation, Psychological; Brazil; Interviews as Topic
PubMed: 38716994
DOI: 10.1590/1984-0462/2024/42/2023131 -
Cureus Apr 2024Several variations of pulmonary vein (PV) branching patterns exist. Since robot-assisted thoracoscopic surgery (RATS) is performed with magnified vision, it is crucial...
Several variations of pulmonary vein (PV) branching patterns exist. Since robot-assisted thoracoscopic surgery (RATS) is performed with magnified vision, it is crucial to carefully identify the running pattern of blood vessels before and during surgery. We present a case of a 77-year-old male patient with right lower lobe lung cancer. Right lower lobectomy via RATS was scheduled. Chest CT before surgery confirmed that the middle lobe PV (V) merged with the inferior PV. Three-dimensional multidetector CT (3D-MDCT) subsequently confirmed that not only V but also the posterior segmental vein of the upper lobe (V) merged with the inferior PV. We should have taped the lower lobe PV only, but we also taped the V and the middle lobe vein. However, since the oblique fissure was separated before cutting the taped blood vessel, the cutting of the blood vessel to be preserved was avoided. Surgeons should have a detailed understanding of the running patterns of pulmonary blood vessels before surgery to perform the procedure safely. Preoperative 3D-MDCT is useful for identifying the running pattern of blood vessels. An abnormality involving V and V merging into the inferior PV can also occur; hence, during right lower lobe resection, by dividing the lower lobe PV after the oblique fissure division, the surgeon can avoid unexpected transection of anomalous PVs that should be preserved.
PubMed: 38707139
DOI: 10.7759/cureus.57491 -
F1000Research 2023Epidermal nevus sebaceous, commonly known as the nevus sebaceous of Jadassohn, is a congenital sebaceous hamartoma. It typically manifests as a single yellowish plaque...
BACKGROUND
Epidermal nevus sebaceous, commonly known as the nevus sebaceous of Jadassohn, is a congenital sebaceous hamartoma. It typically manifests as a single yellowish plaque across the head and neck and is composed of sebaceous glands. It commonly occurs during infancy and grows during puberty. Usually, it follows a benign course; however, in a few cases, it can be malignant. This is the case of a 13-year-old child with verrucous plaques on the temple and scalp.
CASE REPORT
We report the case of a 13-year-old boy with a steadily developing hyperpigmented verrucous plaque on the scalp and ipsilateral side of his face. A dermoscopic examination revealed ridges and fissures in a cerebriform pattern with yellowish-gray globules and a papillary appearance. Physical examination and laboratory tests revealed no abnormalities. Biopsies were taken from the scalp and temple area, and the findings were consistent with the diagnosis of nevus sebaceous. The patient was referred to a plastic surgeon for a staged excision.
CONCLUSIONS
We describe a unique example of a sebaceous nevus that affected the scalp and ipsilateral side of the face. As this hamartomatous growth carries the risk of cancer development, a dermatologist must identify the condition and begin treatment before malignant transformation occurs. This example of multiple verrucous plaques is an exception.
Topics: Humans; Male; Adolescent; Scalp; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Forehead
PubMed: 38706641
DOI: 10.12688/f1000research.142548.2 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... May 2024To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography.
OBJECTIVE
To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography.
METHODS
A fetus undergoing induced labor at 32nd gestational week due to absence of bilateral eye fissures detected by prenatal ultrasonography in January 2017 was selected as the study subject. Umbilical cord blood sample from the fetus and peripheral blood samples from its parents were collected for the extraction of genomic DNA. Pathogenic variants were screened through whole exome sequencing (WES) and verified by Sanger sequencing. Pathogenicity of candidate variants was verified by bioinformatic analysis and protein structure simulation. Based on the results of genetic testing, prenatal diagnosis was provided to the couple upon their subsequent pregnancy.
RESULTS
The couple had four adverse pregnancies previously. The aborted fetus was the fifth, with fused bilateral upper and lower eyelids, poorly developed eyeballs, adhesion of the cornea with the upper eyelid, low-set ears, and abnormal plantar creases, and was diagnosed with cryptophthalmos. WES and Sanger sequencing revealed that the fetus has harbored compound heterozygous variants of the FREM2 gene, namely c.4537G>A (p.D1513N) and c.7292C>T (p.T2431M). Both variants were unreported associated with cryptophthalmos previously. Protein structure simulation showed that they may lead to loss of hydrogen bonds in the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1_Supporting+PM2_Supporting+PM5+PP3+PP4; PM2_Supporting+PM3+PP3+PP4). The mother was performed prenatal diagnosis in her sixth pregnancy based on the variants detected in this family, and delivered a daughter with normal phenotype.
CONCLUSION
The FREM2: c.4537G>A and c.7292C>T compound heterozygous variants probably underlay the pathogenesis of cryptophthalmos in this fetus. Above finding has enriched the mutational spectrum of the FREM2 gene.
Topics: Humans; Female; Pregnancy; Fetus; Exome Sequencing; Adult; Genetic Testing; Ultrasonography, Prenatal; Mutation; Prenatal Diagnosis; Eye Abnormalities
PubMed: 38684310
DOI: 10.3760/cma.j.cn511374-20230915-00135 -
Neuroscience Letters May 2024To explore degree centrality (DC) abnormalities in ischemic stroke patients and determine whether these abnormalities have potential value in understanding the...
OBJECTIVE
To explore degree centrality (DC) abnormalities in ischemic stroke patients and determine whether these abnormalities have potential value in understanding the pathological mechanisms of ischemic stroke patients.
METHODS
Sixteen ischemic stroke patients and 22 healthy controls (HCs) underwent resting state functional magnetic resonance imaging (rs-fMRI) scanning, and the resulting data were subjected to DC analysis. Then we conducted a correlation analysis between DC values and neuropsychological test scores, including Montreal Cognitive Assessment (MoCA) and Mini-Mental State Examination (MMSE). Finally, extracted the abnormal DC values of brain regions and defined them as features for support vector machine (SVM) analysis.
RESULTS
Compared with HCs, ischemic stroke patients showed increased DC in the bilateral supplementary motor area, and median cingulate and paracingulate gyri and decreased DC in the left postcentral gyrus, right calcarine fissure and surrounding cortex, lingual gyrus, and orbital parts of the right superior frontal gyrus and bilateral cuneus. Correlation analyses revealed that DC values in the right lingual gyrus, calcarine fissure and surrounding cortex, and orbital parts of the right superior frontal gyrus were positively correlated with the MMSE scores. The SVM classification of the DC values achieved an area under the curve (AUC) of 0.93, an accuracy of 89.47%.
CONCLUSION
Our research results indicate that ischemic stroke patients exhibit abnormalities in the global connectivity mechanisms and patterns of the brain network. These abnormal changes may provide neuroimaging evidence for stroke-related motor, visual, and cognitive impairments, contribute to a deeper comprehension of the underlying pathophysiological mechanisms implicated in ischemic stroke.
Topics: Humans; Male; Magnetic Resonance Imaging; Female; Ischemic Stroke; Middle Aged; Brain; Aged; Support Vector Machine; Rest; Brain Mapping; Biomarkers
PubMed: 38670522
DOI: 10.1016/j.neulet.2024.137790 -
Journal of Burn Care & Research :... Apr 2024Thermal and chemical burns can result in cicatricial eyelid retraction, characterized by an abnormal resting position of the eyelid margin and increased palpebral...
Thermal and chemical burns can result in cicatricial eyelid retraction, characterized by an abnormal resting position of the eyelid margin and increased palpebral fissure height. Eyelid retraction often leads to exposure keratopathy, which can cause complications ranging from mild dry eye to globe-threatening ulceration and perforation. Prompt intervention includes aggressive lubrication, moisture chambers, eyelid tarsorrhaphy and retraction repair surgery. Discussed here is a burn patient with severe cicatricial retraction and ectropion leading to severe exposure keratopathy and infectious corneal ulceration with perforation. The patient required aggressive medical intervention, as well as two surgeries to restore the normal eyelid anatomy to protect the globe.
PubMed: 38666609
DOI: 10.1093/jbcr/irae072