-
The Journal of Craniofacial SurgeryBilateral cleft lip and palate (CLP) patients commonly require surgical management to treat maxillary hypoplasia following the primary repair. Rarer is the CLP patient...
Bilateral cleft lip and palate (CLP) patients commonly require surgical management to treat maxillary hypoplasia following the primary repair. Rarer is the CLP patient who also presents with a missing premaxillary segment. Here the authors present the case of a 19-year-old female with a history of bilateral CLP who demonstrated significant maxillary hypoplasia in addition to a large premaxillary defect. To correct this deformity, LeFort I advancement with fibular reconstruction of the maxilla and dental implant placement was performed as a single surgical procedure. The authors discuss the advantages of undergoing this single-staged operation. By utilizing virtual surgical planning (VSP) and incorporating a multidisciplinary team within the operating room, the patient was able to successfully undergo maxillary reconstruction and dental implant placement in a single operation.
Topics: Adult; Cleft Lip; Cleft Palate; Female; Humans; Maxilla; Micrognathism; Osteogenesis, Distraction; Young Adult
PubMed: 34172685
DOI: 10.1097/SCS.0000000000007711 -
Journal of Neurosurgical Sciences Dec 2023Despite being previously considered as congenital lesions, recent studies agree to classify cerebral cavernous malformations (CCM) as acquired forms with clear... (Review)
Review
BACKGROUND
Despite being previously considered as congenital lesions, recent studies agree to classify cerebral cavernous malformations (CCM) as acquired forms with clear correlations with other pathological affections of the central nervous system (CNS). In addition, a special subgroup, notably known as de novo CCMs (dnCCM), are associated in a significant number of cases with developmental venous anomalies (DVAs) and, in other cases, with Radiotherapy treatments.
METHODS
A mini-series of 4 patients with clinical history characterized by developing dnCCM is reported. In three patients, the dnCCM was associated with the presence of an isolated DVA. In one case, no DVA was detected, but the patient underwent brain radiotherapy. In three cases, the dnCCM was clinically symptomatic, and the patients were submitted to a surgical procedure for lesion removal. In one case, the dnCCM was detected during MRI follow-up.
RESULTS
Adding a review of the literature, we describe 47 patients who presented dnCCMs. The most common presentation is a sporadic CCM with a DVA, and the onset presentation was bleeding in 4 out of 47 cases (8.5%). Bleeding of dnCCM was observed in 9 out of 47 cases (19%), and the choice treatment was surgical in 24 out of 47 cases (51%).
CONCLUSIONS
We present our series with a review of the recent literature and discuss the "de novo" cavernous malformation pathogenesis. A throughout review of recent literature is reported to clarify the predisposing factors that may lead to dnCCM development in patients carrying specific genetic and molecular features. Considering the high risk of bleeding, strict follow-up and aggressive treatment should be evaluated in dnCCM management.
Topics: Humans; Hemangioma, Cavernous; Hemangioma, Cavernous, Central Nervous System; Magnetic Resonance Imaging; Intellectual Disability; Micrognathism; Ribs
PubMed: 35301833
DOI: 10.23736/S0390-5616.21.05512-0 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jul 2022To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity.
OBJECTIVE
To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity.
METHODS
Systematic ultrasound examination was carried out for the fetus, and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed. The fetus and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Candidate variants were verified by Sanger sequencing.
RESULTS
Fetal ultrasound has indicated micrognathia. The first fetus was found to have micrognathia by prenatal ultrasonography and have featured macrosomia and dyspnea due to with tongue retraction, high palatal arch and small mandibular deformity. WES revealed that the fetus has a harbored a c.3G>C (p.Met1?) variant of the COL2A1 gene, which was inherited from the father who had myopia and retinal detachment.
CONCLUSION
Stickler syndrome is mainly characterized prenatally by micrognathia, in addition with a variety of postnatal anomalies. The c.3G>C (p.Met1?) variant probably underlay the Stickler syndrome in this pedigree.
Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Fetus; Hearing Loss, Sensorineural; Humans; Micrognathism; Mutation; Osteochondrodysplasias; Pedigree; Pregnancy; Retinal Detachment; Retrospective Studies
PubMed: 35810432
DOI: No ID Found -
Frontiers in Immunology 2022The COVID-19 pandemic, caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), has created an urgent global situation. Therefore, it is necessary to...
Differential gene expression profiling reveals potential biomarkers and pharmacological compounds against SARS-CoV-2: Insights from machine learning and bioinformatics approaches.
The COVID-19 pandemic, caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), has created an urgent global situation. Therefore, it is necessary to identify the differentially expressed genes (DEGs) in COVID-19 patients to understand disease pathogenesis and the genetic factor(s) responsible for inter-individual variability and disease comorbidities. The pandemic continues to spread worldwide, despite intense efforts to develop multiple vaccines and therapeutic options against COVID-19. However, the precise role of SARS-CoV-2 in the pathophysiology of the nasopharyngeal tract (NT) is still unfathomable. This study utilized machine learning approaches to analyze 22 RNA-seq data from COVID-19 patients (n = 8), recovered individuals (n = 7), and healthy individuals (n = 7) to find disease-related differentially expressed genes (DEGs). We compared dysregulated DEGs to detect critical pathways and gene ontology (GO) connected to COVID-19 comorbidities. We found 1960 and 153 DEG signatures in COVID-19 patients and recovered individuals compared to healthy controls. In COVID-19 patients, the DEG-miRNA, and DEG-transcription factors (TFs) interactions network analysis revealed that E2F1, MAX, EGR1, YY1, and SRF were the highly expressed TFs, whereas hsa-miR-19b, hsa-miR-495, hsa-miR-340, hsa-miR-101, and hsa-miR-19a were the overexpressed miRNAs. Three chemical agents (Valproic Acid, Alfatoxin B1, and Cyclosporine) were abundant in COVID-19 patients and recovered individuals. Mental retardation, mental deficit, intellectual disability, muscle hypotonia, micrognathism, and cleft palate were the significant diseases associated with COVID-19 by sharing DEGs. Finally, the detected DEGs mediated by TFs and miRNA expression indicated that SARS-CoV-2 infection might contribute to various comorbidities. Our results provide the common DEGs between COVID-19 patients and recovered humans, which suggests some crucial insights into the complex interplay between COVID-19 progression and the recovery stage, and offer some suggestions on therapeutic target identification in COVID-19 caused by the SARS-CoV-2.
Topics: Biomarkers; COVID-19; Computational Biology; Gene Expression Profiling; Humans; Machine Learning; MicroRNAs; Pandemics; SARS-CoV-2; COVID-19 Drug Treatment
PubMed: 36059456
DOI: 10.3389/fimmu.2022.918692 -
Parkinsonism & Related Disorders Dec 2020
Topics: Cleidocranial Dysplasia; Ectodermal Dysplasia; Flavoproteins; Humans; Limb Deformities, Congenital; Micrognathism; Mutation; Parkinsonian Disorders; Phosphoric Monoester Hydrolases
PubMed: 33096303
DOI: 10.1016/j.parkreldis.2020.10.011 -
European Journal of Medical Genetics Feb 2022The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays and hypotonia in addition to...
The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays and hypotonia in addition to characteristic craniofacial and digital findings. We present three fetuses and a male neonate with ventriculomegaly/hydrocephalus, absence of the corpus callosum (ACC), cerebellar hypoplasia, retinal dysplasia, lung lobulation defects, renal dysplasia, imperforate or anteriorly placed anus, thymus hypoplasia and a single umbilical artery. Facial anomalies included downslanting palpebral fissures, wide-spaced eyes, low-set and posteriorly rotated ears, a small jaw, widely spaced nipples and hypoplastic nails. All fetuses had heterozygous variants predicting premature protein truncation in ARID1A (c.4886dup:p.Val1630Cysfs*18; c.4860dup:p.Pro1621Thrfs*27; and c.175G>T:p.Glu59*) and the baby's microarray demonstrated mosaicism for a deletion at chromosome 1p36.11 (arr[GRCh37] 1p36.11(26,797,508_27,052,080)×1∼2), that contained the first exon of ARID1A. Although malformations, in particular ACC, have been described with CSS caused by pathogenic variants in ARID1A, prenatal presentations associated with this gene are rare. Retinal dysplasia, lung lobulation defects and absent thymus were novel findings in association with ARID1A variants. Studies in cancer have demonstrated that pathogenic ARID1A variants hamper nuclear import of the protein and/or affect interaction with the subunits of SWI/SNF complex, resulting in dysregulation of the PI3K/AKT pathway and perturbed PTEN and PIKC3A signaling. As haploinsufficiency for PTEN and PIKC3A can be associated with ventriculomegaly/hydrocephalus, aberrant expression of these genes is a putative mechanism for the brain malformations demonstrated in patients with ARID1A variants.
Topics: Abnormalities, Multiple; Aborted Fetus; Adult; DNA-Binding Proteins; Face; Female; Hand Deformities, Congenital; Humans; Intellectual Disability; Micrognathism; Mutation; Neck; Phenotype; Pregnancy; Prenatal Diagnosis; Transcription Factors
PubMed: 34942405
DOI: 10.1016/j.ejmg.2021.104407 -
Development (Cambridge, England) Feb 2021Ciliopathies represent a growing class of diseases caused by defects in microtubule-based organelles called primary cilia. Approximately 30% of ciliopathies are...
Ciliopathies represent a growing class of diseases caused by defects in microtubule-based organelles called primary cilia. Approximately 30% of ciliopathies are characterized by craniofacial phenotypes such as craniosynostosis, cleft lip/palate and micrognathia. Patients with ciliopathic micrognathia experience a particular set of difficulties, including impaired feeding and breathing, and have extremely limited treatment options. To understand the cellular and molecular basis for ciliopathic micrognathia, we used the ( ), a bona fide avian model for the human ciliopathy oral-facial-digital syndrome subtype 14. Histological analyses revealed that the onset of ciliopathic micrognathia in embryos occurred at the earliest stages of mandibular development. Neural crest-derived skeletal progenitor cells were particularly sensitive to a ciliopathic insult, undergoing unchecked passage through the cell cycle and subsequent increased proliferation. Furthermore, whereas neural crest-derived skeletal differentiation was initiated, osteoblast maturation failed to progress to completion. Additional molecular analyses revealed that an imbalance in the ratio of bone deposition and resorption also contributed to ciliopathic micrognathia in embryos. Thus, our results suggest that ciliopathic micrognathia is a consequence of multiple aberrant cellular processes necessary for skeletal development, and provide potential avenues for future therapeutic treatments.
Topics: Animals; Bone Remodeling; Bone Resorption; Cell Cycle; Ciliopathies; Craniofacial Abnormalities; Disease Susceptibility; Embryo, Nonmammalian; Gene Expression Regulation, Developmental; Genetic Association Studies; Hedgehog Proteins; Micrognathism; Organogenesis; Osteoblasts; Phenotype; Zinc Finger Protein GLI1
PubMed: 33589509
DOI: 10.1242/dev.194175 -
Georgian Medical News Apr 2023The aim of the research was to study the relationship between the X-ray changes in the bones of the skull, the structure of the upper respiratory tract and concomitant...
The aim of the research was to study the relationship between the X-ray changes in the bones of the skull, the structure of the upper respiratory tract and concomitant general somatic diseases in patients with congenital and acquired craniomaxillofacial anomalies. The study included 52 patients aged 1 to 3 and 3 to 7 years, with congenital and acquired lower micrognathia in 19 (36.53±5.3)% and upper micrognathia in 33 (63.46±5.3)%. There were used clinical methods (questioning, examination, palpation), instrumental methods (multispiral computer tomography, X-ray cephalometric analysis of the bones of the facial skeleton, oropharynx, and bony pharynx). The obtained results of the clinical and radiographic examination made it possible to assert that among the patients with congenital defects of the jaws, not only changes in the facial skeleton dominate, mostly in the form of upper micrognathia and, to a lesser extent, lower micrognathia, but also the presence of somatic developmental defects in the form of disorders of the nervous system, pathologies of ENT-organs and ophthalmic defects. The identified malformations caused the violations of a number of important functions: breathing, swallowing, chewing, and speech formation. This connection was followed in particular in patients with syndromic craniosynostosis, namely, underdevelopment of the skull base combined with upper micrognathia and retroposition of the maxillary complex in the skull. The frequency and spectrum of concomitant somatic pathology depended on the nature of dentofacial anomalies. All patients with upper micrognathia had craniostenosis with the deformations of the brain skull and eye sockets. Among the patients with lower micrognathia, all those examined were found to have disorders of the development of the ENT-organs.
Topics: Humans; Micrognathism; Skull; Face; Maxilla; Cephalometry; Facial Bones
PubMed: 37354676
DOI: No ID Found -
Head & Face Medicine Nov 2022Genetic and environmental factors especially climatic conditions are thought to influence the shape and size of the paranasal sinuses and anatomic variations may create...
BACKGROUND
Genetic and environmental factors especially climatic conditions are thought to influence the shape and size of the paranasal sinuses and anatomic variations may create both a diagnostic and therapeutic challenge. However, no study has been published about the climatic adaptation of the paranasal sinus region in different populations. This study aimed to compare the prevalence of anatomical variants in the paranasal sinus and nasal cavity using Cone-Beam Computed Tomography (CBCT) between Polish and Turkish Cypriot populations.
METHODS
The material consisted of volumes acquired utilizing Galileos (Sirona, Germany) as well as Newtom 3G (QR Verona, Newtom, Italy) CBCT units. There were examined 356 Polish and 359 Turkish Cypriot patients in whom paranasal sinuses were included in the field of view. Paranasal sinus anatomic variations were assessed in both populations.
RESULTS
In the Polish population, the most common anatomic variation was septum deviation followed by the Agger nasi cell and concha bullosa with a prevalence of 87.7%, 83.2%, and 54.8% respectively. For the Turkish Cypriot population, the most common anatomic variation was Agger nasi cell followed by concha bullosa and supraorbital ethmoid cells with a prevalence of 81.6%, 68%, and 57.8% respectively. Many anatomic variations were found to show substantial differences among both populations. Incidence rates of hyperpneumatization of the frontal sinus, septum pneumatization, supraorbital ethmoid cells, concha bullosa, uncinate bulla, and internal carotid artery protrusion into the sphenoid sinus were significantly higher in the Turkish Cypriot group, while the incidence of Haller cell, frontal sinus hypoplasia, maxillary sinus hypoplasia, ethmomaxillary sinus, sphenomaxillary plate, and septum deviation were significantly higher in Polish population.
CONCLUSION
According to the Köppen-Geiger world climatic map, the climate is warmer and drier in Turkish Cypriote populations than in the Polish population. These climatic differences influence the paranasal sinus variations between the Turkish Cypriot and Polish populations that must be taken into account by rhinologic surgeons especially when performing frontal and sphenoid sinus surgery.
Topics: Humans; Nasal Cavity; Poland; Spiral Cone-Beam Computed Tomography; Tomography, X-Ray Computed; Maxillary Sinus; Micrognathism
PubMed: 36435801
DOI: 10.1186/s13005-022-00340-3 -
The Cleft Palate-craniofacial Journal :... May 2020Establish the reliability of the jaw index to objectify the relationship between the maxilla and mandible in healthy newborns.
OBJECTIVE
Establish the reliability of the jaw index to objectify the relationship between the maxilla and mandible in healthy newborns.
DESIGN
Cohort study.
SETTING
Tertiary setting.
PATIENTS
A total of 52 healthy newborns were included to detect an inter and intraclass correlation coefficient (ICC) of 0.8 with a 95% confidence interval (95% CI) of width 0.3. Inclusion criteria were children born full term without respiratory or feeding problems, and without congenital malformations or facial deformities due to birth trauma. Uncooperative patients were excluded.
INTERVENTIONS
The jaw index, a measuring tool for objectifying micrognathia in children suspected of having Robin sequence, was used. An ICC of greater than 0.8 was considered clinically relevant.
MAIN OUTCOME MEASURE(S)
Primary outcomes are the reliability of the jaw index expressed as interclass correlation coefficient and ICC. Secondary outcomes are the mean jaw index and mean length of the mandible, maxilla, and the alveolar overjet.
RESULTS
An interclass correlation coefficient of 0.74 (95% CI: 0.49-0.86) and an ICC of 0.81 (95% CI: 0.66-0.89) were found. The mandible had an average length of 162.6 mm (standard deviation [SD] 11.1), the maxilla 168.7 mm (SD 9.4), the alveolar overjet 2.0 mm (SD 0.60), and the mean jaw index was 2.1 (SD 0.64).
CONCLUSION
The jaw index is a consistent instrument between different observers as well as for one observer measuring consecutively in the same child, to objectify the size of the lower jaw compared to that of the upper jaw in healthy newborns.
Topics: Child; Cohort Studies; Humans; Infant, Newborn; Mandible; Micrognathism; Observer Variation; Pierre Robin Syndrome; Reproducibility of Results
PubMed: 31749374
DOI: 10.1177/1055665619885726