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Journal of Maxillofacial and Oral... Jun 2021Caustic soda ingestion causes strictures in the respiratory, gastrointestinal systems and even death. In the oral and perioral areas it causes contractures leading to...
Caustic soda ingestion causes strictures in the respiratory, gastrointestinal systems and even death. In the oral and perioral areas it causes contractures leading to microstomia that is difficult to manage to restore structure and function of the oral cavity. The present case is of a 42-year-old female who presented with microstomia, no endoscopic esophageal injury and ankyloglossia following ingestion of caustic soda in an attempted suicide following a dispute with her spouse. Satisfactory mouth opening and tongue movement were achieved by bilateral release of buccal contractures, commissuroplasty and release of the tongue that was tethered to the floor of the mouth.
PubMed: 33927490
DOI: 10.1007/s12663-019-01247-4 -
Brazilian Journal of Anesthesiology... 2023Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success...
Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success of rescue supraglottic airway placement. While awake tracheal intubation using a flexible intubation scope is considered the optimal technique for these patients, it may not always be feasible in the pediatric population. We report a case of successful management of a difficult airway in a child with extensive post-burn head and neck deformity using a noninvasive positive pressure system to aid with inhalational induction and deep sedation during intubation using a flexible scope.
PubMed: 33887337
DOI: 10.1016/j.bjane.2021.03.012 -
Brain Sciences Nov 20207q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome...
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.
PubMed: 33187326
DOI: 10.3390/brainsci10110839 -
Bone Jan 2021Microdeletions within 1q24 have been associated with growth deficiency, varying intellectual disability, and skeletal abnormalities. The candidate locus responsible for...
Microdeletions within 1q24 have been associated with growth deficiency, varying intellectual disability, and skeletal abnormalities. The candidate locus responsible for the various phenotypic features of this syndrome has previously been predicted to lie in the area of 1q24.3, but molecular evidence of the causative gene remains elusive. Here, we report two additional patients carrying the smallest reported 1q24 deletion to date. Patient 1 exhibited intrauterine growth retardation, shortening of the long bones, frontal bossing, microstomia, micrognathia, and a language acquisition delay. Her mother, Patient 2, displayed a broad forehead and nasal bridge, thick supraorbital ridges, and toe brachydactyly, along with learning disability and language acquisition delay. The microdeletion encompasses a 94 Kb region containing exon 14 and portions of the surrounding introns of the gene encoding dynamin 3 (DNM3), resulting in an in-frame loss of 38 amino acids. This microdeletion site also contains a long non-coding RNA (DNM3OS) and three microRNAs (miR-214, miR-199A2, and miR-3120). Following culture of patient-derived and control fibroblasts, molecular analyses were performed to determine expression levels of genes affected by the heterozygous deletion. Results show decreased expression of DNM3OS and miR-214-3p in patient fibroblasts cultured in an osteogenic induction medium. Overall, our data provide further evidence to support a functional role for non-coding RNAs in regulating the skeletal phenotype, and the potential of a functionally-impaired DNM3 protein causing the non-skeletal disease pathogenesis.
Topics: Brachydactyly; Chromosome Deletion; Female; Humans; Intellectual Disability; MicroRNAs; Phenotype; Syndrome
PubMed: 33141070
DOI: 10.1016/j.bone.2020.115705 -
BMJ Case Reports Oct 2020A 74-year-old man was referred to a tertiary academic otolaryngology clinic for evaluation of a left-sided neck mass with unknown primary. Nuclear imaging modalities...
A 74-year-old man was referred to a tertiary academic otolaryngology clinic for evaluation of a left-sided neck mass with unknown primary. Nuclear imaging modalities revealed a primary cancer located at the left tongue base. Further investigation revealed the tumour to be a p16 positive squamous cell cancer with metastatic spread to cervical lymph nodes of multiple levels. The patient was found on initial investigation to have microstomia and a retrognathic mandible, which are typically considered unsuitable for robotic surgery due to difficulties obtaining adequate exposure.The patient underwent bilateral neck dissection, followed by transoral robotic-assisted left base of tongue resection. A midline intraoral mandibulotomy was performed to improve robotic access. Following tumour resection, the mandible was repaired using open reduction with internal plate fixation. Postoperative occlusion was maintained, and the patient recovered well from mandibulotomy with none of the morbidity or cosmetic defects associated with a traditional lip-split approach.
Topics: Aged; Carcinoma, Squamous Cell; Glossectomy; Humans; Male; Mandibular Osteotomy; Microstomia; Natural Orifice Endoscopic Surgery; Neck Dissection; Robotic Surgical Procedures; Tongue; Tongue Neoplasms
PubMed: 33093057
DOI: 10.1136/bcr-2020-236010 -
Annals of Ibadan Postgraduate Medicine Jun 2020Hemifacial microsomia (HFM) is the 2 most common craniofacial birth defect after cleft lip and palate. It is said to arise from the 1 & 2 intrauterine branchial arches....
Hemifacial microsomia (HFM) is the 2 most common craniofacial birth defect after cleft lip and palate. It is said to arise from the 1 & 2 intrauterine branchial arches. HFM is believed by many experts to be congenital but not inherited as most patients afflicted have no previous family history. It also known as craniofacial microstomia with cranial involvement. The real cause is unknown but largely blamed on hemorrhage of the stapaedial artery. The phenotypic expression is variable from mild to severe involving many structures such as bone, nerve, muscular tissues and soft tissue. Facial structures commonly affected include the ears, the mouth and the mandible. Mostly unilateral but bilateral have been reported. However, not much is known about this condition in sub-Saharan Africa. Multidisciplinary team management is the general consensus for optimal care. Awareness in sub-Saharan Africa of this disorder is still evolving. This review identifies various classifications, diagnoses, investigations, treatment and timelines for management of HFM. The aim of the current review was to discuss the diverse controversies, classification, diagnosis and treatment of HFM so as to increase the understanding of this condition.
PubMed: 33071690
DOI: No ID Found -
Archives of Rheumatology Jun 2020This study aims to investigate the correlations between clinical features and mouth opening in patients with systemic sclerosis (SSc).
OBJECTIVES
This study aims to investigate the correlations between clinical features and mouth opening in patients with systemic sclerosis (SSc).
PATIENTS AND METHODS
Eighty patients with SSc (13 males, 67 females; mean age 53.39±11.65 years; range, 31 to 76 years) followed in our clinic were enrolled in the study. Skin involvement was assessed using the modified Rodnan skin score (mRSS), joint/tendon involvement with finger-tip to palm (FTP) distance and interstitial lung disease (ILD) was evaluated with clinical and radiologic methods. The interincisal distance (ID) measurement was used to assess the maximal mouth opening capacity. We examined associations between the ID and clinical features of SSc.
RESULTS
The ID was lower in females compared with males, and in diffuse type compared with the limited type (p<0.001 and p<0.001, respectively). A significant negative correlation was found between the ID with mRSS and FTP distance (p<0.001 and p=0.001, respectively). The ID was lower in patients with ILD than in patients without ILD (p=0.006). A formula was constituted to predict the maximal mouth opening of the patient with regression analysis. According to the formula, being male was associated with an increase of 6.14 mm, the presence of ILD with a decrease of 3.19 mm, every 10 mm increment in mRSS with a decrease of 3.72 mm and FTP distance >0 mm with a decrease of 5.13 mm in mouth opening.
CONCLUSION
Microstomia is associated with low quality of life in patients with SSc. In our study, sex, ILD, mRSS, and FTP distance were observed to be the most important factors that were related with mouth opening in patients with SSc.
PubMed: 32851368
DOI: 10.46497/ArchRheumatol.2020.7434 -
International Journal of Surgery... 2020Oro-facial fibrosis is a common and disabling manifestation of systemic sclerosis (SSc), causing a plethora of functional, aesthetic and social compromise, yet is...
Feasibility study of stem-cell enriched autologous lipotransfer to treat oro-facial fibrosis in systemic sclerosis (Sys-Stem): Protocol for open-label randomised controlled trial.
INTRODUCTION
Oro-facial fibrosis is a common and disabling manifestation of systemic sclerosis (SSc), causing a plethora of functional, aesthetic and social compromise, yet is without effective treatment. Autologous lipotransfer is an established minimally invasive surgical procedure that is postulated to exert anti-fibrotic effects by adipose-derived stem cells, and presents a novel method in the treatment of fibrotic conditions. This study aims to assess the safety and efficacy of autologous lipotransfer for facial involvement in SSc.
METHODS AND ANALYSIS
This is the first randomised controlled study with an open label design to assess autologous lipotransfer for oro-facial involvement in systemic sclerosis. The goals of this study are to assess the feasibility of using a range of quantitative and qualitative outcome measures to effectively measure disease severity and treatment outcome, and to assess patient acceptability for future multi-centre trials. A total of 50 participants will be randomised to a treatment or control group. The treatment group will receive autologous fat transfer to the peri-oral region by a single surgeon. Dermal fibroblasts and adipose-derived stem cells will be isolated from tissue samples. All outcome measures will be taken at baseline, then at 6 weeks, 3 months and 6 months from the time of intervention in the treatment arm, or from baseline in the control arm.
ETHICS AND DISSEMINATION
The study has ethical approval (REC reference 19/LO/0718). Results will be available to patients, patient user groups, clinicians and the public through presentations at national and international rheumatology conferences and published in peer reviewed journals.
TRIAL REGISTRATION
Registered on ISRCTN registry (ISRCTN17793055).
PubMed: 32803023
DOI: 10.1016/j.isjp.2020.07.002 -
Archives of Craniofacial Surgery Jun 2020Microstomia is defined as a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral...
BACKGROUND
Microstomia is defined as a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral hygiene and cosmetic problems. Several treatment methods for microstomia have been proposed. None of them are universally applicable. This study aims at analyzing the cases treated at our institution critically reviewing the pertinent literature.
METHODS
The medical records of all microstomia patients treated in our hospital from November 2015 to April 2018 were reviewed retrospectively. Of these, all patients who received surgical treatment for microstomia were included in the study and analyzed for etiology, chief complaint, surgical method, and outcomes. The functional outcomes of mouth opening and intercommissure distance before and after the surgery were evaluated. The cosmetic results were assessed according to the patients' satisfaction.
RESULTS
Five patients with microstomia were corrected. Two cases were due to scar contracture after chemical burn, two cases derived from repeated excision of skin cancer, and one patient suffered sequela of Stevens-Johnson syndrome. The following surgical methods were applied: one full-thickness skin graft on the buccal mucosa, three buccal mucosal advancement flaps after triangular excision of the mouth corner, and one local buccal mucosal flap. Mouth opening was increased by 6.0 mm, and the intercommissure distance improved by 7.2 mm on average. Follow-up was 9.6 months (range, 5-14 months). Cosmetic assessment was as follows: two patients found the results excellent, three judged it as good.
CONCLUSION
Microstomia has several causes. In order to achieve optimal functional recovery and aesthetic improvement it is important to precisely evaluate the etiologic factors and the severity of the impairment and to carefully choose the appropriate surgical method.
PubMed: 32630987
DOI: 10.7181/acfs.2020.00220 -
Experimental and Therapeutic Medicine Jul 2020Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an...
Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an autoimmune disorder. The incompletely elucidated pathogenesis and limited therapeutic options, disabling aspects, skin lesions and pain determine important functional and psychological deficiencies which affect the quality of life. It is imperative to observe and correlate individual clinical and paraclinical data to optimize disease management. A group of 22 patients diagnosed with SSc, hospitalized in a university clinic in Bucharest was included in an observational study. The evolution of digital ulcers was evaluated as an indicator of vasculopathy and their status and dynamics were correlated with clinical elements reflecting the fibrotic aspect of the disease. The present study shows that the Raynaud phenomenon is almost always present during the course of the disease, but its presence is not always associated with digital ulcers. The existing data in the literature show that fibrosis is subsequent to vasculopathy, but this study did not reveal causality between these two aspects of pathogenesis. The presence of microstomia and digital contracture was identified in the presence of digital ulcers, but also in their absence. The etiopathogenic mechanisms with multiple unknown involved factors open the opportunity to investigate many aspects of SSc for optimal aiming of therapeutic interventions.
PubMed: 32508995
DOI: 10.3892/etm.2020.8572