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Scientific Reports Jan 2024The aim of this study was to assess the impact of molar-incisor hypomineralisation (MIH) on oral health-related quality of life (OHRQoL) in children and adolescents,...
The aim of this study was to assess the impact of molar-incisor hypomineralisation (MIH) on oral health-related quality of life (OHRQoL) in children and adolescents, including information on restorative care, tooth sensitivity, as well as sociodemographic factors. Thirty-five patients aged between 7 and 17 years underwent a comprehensive oral examination. Severity of MIH was graded using the MIH Treatment Need Index (MIH-TNI), OHRQoL using the Child Oral Health Impact Profile (COHIP-19). Clinical quality of restorations was assessed according to modified FDI-criteria, tooth sensitivity using the Schiff Cold Air Sensitivity Scale (SCASS). The mean age was 11.3 ± 3.0 years, 34% were female. On average, 6.9 ± 2.8 teeth were affected, 62,9% had hypersensitive teeth (SCASS ≥ 1). Eighty-nine percent of patients had received restorative care, with a mean of 3.3 ± 2.1 teeth restored, most often with composite, followed by fissure sealing. Nine percent of restorations failed by the FDI-criteria. Mean estimated survival times for success were 4.9 years (95% CI 3.5; 6.2) and 5.6 years (95% CI 5.0; 6.3) for fissure sealants and composite restorations, respectively. The mean COHIP-19 score was 64.3 ± 8.2 (max. possible score = 76). A higher severity of MIH-TNI correlated significantly with impaired OHRQoL (r = - 0.38, p = 0.013). However, this was not mirrored in multiple regression analysis. Despite the high rate of restorative treatment with an acceptable failure rate, OHRQoL is reduced in children with MIH. Many teeth affected by MIH remain sensitive. Further studies are needed to assess the benefits of different restorative options.
Topics: Adolescent; Child; Humans; Female; Male; Dentin Sensitivity; Molar Hypomineralization; Quality of Life; Survival Analysis; Chondroitin Sulfates
PubMed: 38191504
DOI: 10.1038/s41598-024-51223-3 -
Case Reports in Ophthalmology 2024Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, known to present with ocular manifestations in rare cases.
INTRODUCTION
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, known to present with ocular manifestations in rare cases.
CASE PRESENTATION
We describe the case of a 9-year-old previously healthy male who developed a 2-day history of periocular swelling and was found on MRI to have a large sphenoidal mass. Further work up showed involvement of the spinal cord, iliac crests, and kidneys. His initial blood work showed no hematological abnormalities. A bone marrow biopsy taken from the iliac crest demonstrated >90% B lymphoblasts and flow cytometry was positive for CD19. Overall, his investigations were consistent with a diagnosis of precursor B-cell ALL (pre B-ALL). His neuro-ophthalmic exam showed right-sided subtle periocular edema, decreased palpebral fissure height, and proptosis. Posterior exam showed mild nasal elevation of the right optic disc without vessel obscuration and mild tortuosity of the peripheral vessels. He otherwise had no overt signs of afferent or efferent dysfunction despite the proximity of the mass to his optic nerve and globe.
CONCLUSION
This case demonstrates that high-risk pre B-ALL, a childhood cancer not commonly associated with orbital manifestations, can present with orbital edema and normal leukocyte count in an otherwise healthy child.
PubMed: 38187931
DOI: 10.1159/000534926 -
Journal of Neurosurgery. Case Lessons Dec 2023Arachnoid cysts (ACs) are congenital abnormalities that can be located anywhere within the subarachnoid space along the cerebrospinal axis, although they are most often...
BACKGROUND
Arachnoid cysts (ACs) are congenital abnormalities that can be located anywhere within the subarachnoid space along the cerebrospinal axis, although they are most often found on the left side in the temporal fossa and sylvian fissure. ACs comprise approximately 1% of all intracranial space-occupying lesions and are considered potential risk factors for subdural hematoma (SDH) in individuals of all age groups who have experienced traumatic brain injury. Although it is uncommon for an intracystic hemorrhage of an AC to occur without evidence of head trauma, it may be more common among children and young adults. Here, the authors present three cases of spontaneous AC intracystic hemorrhage with chronic SDH. Additionally, they provide a thorough review of the existing literature.
OBSERVATIONS
All three patients with AC were adolescent males. In all cases, AC was identified using the Galassi classification (type II or III) and associated with spontaneous intracystic hemorrhage and chronic SDH as seen on imaging.
LESSONS
Spontaneous intracystic hemorrhage is a rare complication and occurs most commonly on the left side. Surgery is the definitive treatment, requiring either craniotomy or burr hole for hematoma evacuation and microsurgical fenestration to drain the cyst into the subarachnoid cisterns.
PubMed: 38145564
DOI: 10.3171/CASE23544 -
Brain Research Bulletin Jan 2024This study aimed to investigate brain activity changes in patients suffering from neuropathic pain (NP) following brachial plexus avulsion (BPA).
OBJECTIVE
This study aimed to investigate brain activity changes in patients suffering from neuropathic pain (NP) following brachial plexus avulsion (BPA).
METHODS
Fifteen patients with NP following BPA and eight healthy participants (HP) were recruited for this study. All participants underwent examination using resting-state functional MRI. The amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) were calculated and compared between the BPA group, left-BPA subgroup, right-BPA subgroup, and the HP group using independent samples t-tests.
RESULTS
In the BPA group, there were notable increases in ALFF/ReHo observed in the left rolandic operculum, insula, and supramarginal gyrus, while decreases were observed in the left paracentral lobule, fusiform gyrus, calcarine fissure and surrounding cortex, lingual gyrus, precuneus, as well as the bilateral anterior/median cingulate and paracingulate gyri, supplementary motor area, and cerebellum. In the left-BPA subgroup, elevated ALFF/ReHo levels were identified in the left middle/inferior frontal gyri, rolandic operculum, and supramarginal gyrus, with corresponding decreases in the left calcarine fissure and surrounding cortex, inferior occipital gyrus, fusiform gyrus, lingual gyrus, as well as the bilateral anterior/median cingulate and paracingulate gyri, postcentral gyri, supplementary motor area, paracentral lobules, and cerebellum. The right-BPA subgroup displayed increased ALFF/ReHo in the left frontal lobe, rolandic operculum, insula, fusiform gyrus, and lingual gyrus, as well as the right cerebellum. Conversely, decreases in ALFF/ReHo were observed in the bilateral anterior/median cingulate and paracingulate gyri, calcarine fissure and surrounding cortex, cuneus, and occipital lobes.
CONCLUSIONS
The NP after BPA caused spontaneous activity changes in brain regions associated with linguistic, visual, somatosensory, and motor coordination and processing function. The majority of these abnormal areas were situated in the left cerebral hemisphere, while the effect of cingulate gyri and cerebellum seemed to be bilateral.
Topics: Humans; Magnetic Resonance Imaging; Brain; Brain Mapping; Neuralgia; Motor Cortex
PubMed: 38056510
DOI: 10.1016/j.brainresbull.2023.110831 -
The Journal of Craniofacial SurgeryBlepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant genetic disorder, primarily attributed to mutations in the...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant genetic disorder, primarily attributed to mutations in the forkhead box L2 (FOXL2) gene. Albeit the involvement of protein-coding regions of FOXL2 has been observed in the majority of BPES cases, whether deficiencies in regulatory elements lead to the pathogenesis remains poorly understood. Herein, an autosomal-dominant BPES type II family was included. Peripheral venous blood has been collected, and genomic DNA has been extracted from leukocytes. A whole exome sequencing analysis has been performed and analyzed (Deposited in NODE database: OER422653). The promoter region of FOXL2 was amplified using polymerase chain reaction (PCR). The luciferase reporter assay was performed to identify the activity of this region. In this study, we present a Chinese family diagnosed with type II BPES, characterized by the presence of small palpebral fissures, ptosis, telecanthus, and epicanthus inversus. Notably, all male individuals within the family display polydactyly. A 225-bp deletion in the 556-bp 5'-upstream to transcription start site of FOXL2 , decorated by multiple histone modifications, was identified in affected members of the family. This deletion significantly decreased FOXL2 promoter activity, as measured by the luciferase assay. Conclusively, a novel 255-bp-deletion of the FOXL2 promoter was identified in Chinese families with BPES. Our results expand the spectrum of known FOXL2 mutations and provide additional insight into the genotype-phenotype relationships of the BPES pathogenesis. In addition, this study indicates the important role of genetic screening of cis-regulatory elements in testing heritable diseases.
Topics: Humans; Male; Forkhead Box Protein L2; Blepharophimosis; Pedigree; Blepharoptosis; Mutation; Promoter Regions, Genetic; China; Luciferases; Skin Abnormalities; Urogenital Abnormalities
PubMed: 37938073
DOI: 10.1097/SCS.0000000000009801 -
Molecular Genetics & Genomic Medicine Jan 2024Kabuki syndrome 1 (KS1; OMIM:147920), which is characterized by distinctive dysmorphic facial features (such as arched eyebrows, long palpebral fissures with eversion of...
BACKGROUND
Kabuki syndrome 1 (KS1; OMIM:147920), which is characterized by distinctive dysmorphic facial features (such as arched eyebrows, long palpebral fissures with eversion of the lower lid, and large protuberant ears), intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities, is brought on by pathogenic variants in KMT2D (OMIM:602113). In this work, three individuals with novel pathogenic KMT2D gene variants had their longitudinal audiological manifestations and ear structural characteristics outlined.
METHODS
The longitudinal audiological data from neonatal hearing screening and a battery of several hearing tests were evaluated. The battery of hearing tests included tympanometry, distortion product otoacoustic emission (DPOAE), click-evoked air-conduction auditory brain-stem response (AC-ABR), click-evoked bone-conduction auditory brain-stem response (BC-ABR), narrow band CE-chirp auditory steady-state response (NB CE-chirp ASSR), and pure-tone audiometry (PTA). Phenotype identification and whole exome sequencing (WES) were performed on recruited individuals.
RESULTS
All three patients (two females and on male; last evaluations at 14 months, 11 months, and 5.7 years, respectively) failed the newborn hearing screening, and the audiological follow-up data revealed mild to profound fluctuating hearing loss, which was directly influenced by the incidence and severity of otitis media with effusion (OME). When OME occurred, the AC-ABR thresholds increased from 30-75 dBnHL to 45-90 dBnHL. The threshold for the BC-ABR and BC-PTA was between 25 and 50 dBnHL, indicating mild to moderate sensorineural hearing loss (SNHL). The high-resolution computed tomography (HRCT) pictures indicated that all three patients had middle and inner ear abnormalities. Middle ear anomalies showed as diminished mastoid gasification and ossicle dysplasia. Cochlear dysplasia, a dilated vestibule, fusion of the vestibule with the horizontal semicircular canals, and a short and thick horizontal semicircular canal were visible on images of the inner ear. This study recruited three individuals with three novel pathogenic variants (c.5104C>T, c.10205delA, and c.12840delC) of KMT2D who were identified at ages 27 days, 2 months, and 5.5 years.
CONCLUSIONS
Hearing characteristics of three individuals with three novel pathogenic variants of KMT2D range from mild to profound fluctuating hearing loss with mild to moderate SNHL. HRCT scans showed that all three individuals had anatomical middle and inner ear abnormalities. KS 1 patients must get clinical therapy for OME, frequent auditory monitoring, and prompt intervention.
Topics: Infant, Newborn; Female; Humans; Male; Hearing; Hearing Tests; Abnormalities, Multiple; Hearing Loss; Face; Hematologic Diseases; Vestibular Diseases
PubMed: 37921229
DOI: 10.1002/mgg3.2306 -
Case Reports in Genetics 2023There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of...
INTRODUCTION
There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements.
CONCLUSION
This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.
PubMed: 37876589
DOI: 10.1155/2023/7974886 -
American Journal of Obstetrics &... Dec 2023Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in...
BACKGROUND
Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum.
OBJECTIVE
This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum.
STUDY DESIGN
This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 weeks of gestation) with suspected complete agenesis of the corpus callosum. All cases with the diagnosis of complete agenesis of the corpus callosum were submitted to an axial sonographic assessment of the fetal brain on the transventricular plane. In this scanning section, the mesial profile of both cerebral hemispheres at the level of the frontal-parietal cortex was investigated. In this area, the operator looked for an abnormal invagination of the cortical surface along the widened interhemispheric fissure, which was referred to as the "cortical invagination sign." All fetuses were submitted to dedicated antenatal magnetic resonance imaging to reassess the ultrasound findings. Cases with additional brain anomalies, which did not involve the cortex, were excluded. The final diagnosis was confirmed at postnatal brain magnetic resonance imaging or postmortem examination, for cases undergoing termination of pregnancy. The primary outcome of this study was to evaluate the presence and laterality of the "cortical invagination sign" in fetuses with complete agenesis of the corpus callosum at antenatal ultrasound and magnetic resonance imaging.
RESULTS
During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. The "cortical invagination sign" was detected at ultrasound in 13 of 64 cases (20.3%) and at targeted brain magnetic resonance imaging in 2 additional cases (23.4%), all of which were electively terminated. Moreover, the "cortical invagination sign" was found to be exclusively unilateral and on the left cerebral hemisphere in all the cases. There was a predominant number, although nonsignificant, of male fetuses (80.0% of cases; P=.06) in the group of complete agenesis of the corpus callosum with the "cortical invagination sign."
CONCLUSION
The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the corpus callosum. The etiology, pathophysiology, and prognostic significance of this finding remain to be elucidated.
Topics: Pregnancy; Humans; Male; Female; Corpus Callosum; Pregnancy Trimester, Second; Agenesis of Corpus Callosum; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Gestational Age; Fetus
PubMed: 37866717
DOI: 10.1016/j.ajogmf.2023.101198 -
Journal of the Belgian Society of... 2023To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
OBJECTIVE
To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
METHOD
In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively.
RESULTS
JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case.
CONCLUSION
JS has distinctive CT and MRI characteristics that can be clinically identified.
PubMed: 37781478
DOI: 10.5334/jbsr.3283