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The Journal of Clinical Endocrinology... Jun 2024Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from impaired osteoclastic bone resorption. Clinical manifestations frequently include...
CONTEXT
Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures, osteonecrosis (particularly of the jaw or maxilla), osteomyelitis, blindness, and/or bone marrow failure. ADO usually results from heterozygous missense variants in the Chloride Channel 7 gene (CLCN7) that cause disease by a dominant negative mechanism. Variants in the T-cell immune regulator 1 gene (TCIRG1) are commonly identified in autosomal recessive osteopetrosis but have only been reported in 1 patient with ADO.
CASE DESCRIPTION
Here, we report 3 family members with a single heterozygous missense variant (p.Gly579Arg) in TCIRG1 who have a phenotype consistent with ADO. Three of 5 protein prediction programs suggest this variant likely inhibits the function of TCIRG1.
CONCLUSION
This is the first description of adult presentation of ADO caused by a TCIRG1 variant. Similar to families with ADO from CLCN7 mutations, this variant in TCIRG1 results in marked phenotype variability, with 2 subjects having severe disease and the third having very mild disease. This family report implicates TCIRG1 missense mutations as a cause of ADO and demonstrates that the marked phenotypic variability in ADO may extend to disease caused by TCIRG1 missense mutations.
Topics: Humans; Osteopetrosis; Mutation, Missense; Male; Female; Pedigree; Adult; Vacuolar Proton-Translocating ATPases; Phenotype; Middle Aged; Genes, Dominant
PubMed: 38261998
DOI: 10.1210/clinem/dgae040 -
A Novel Method to Fix Paediatric Mandibular Fracture using 2-0 Polyglactin Suture: A Technical Note.African Journal of Paediatric Surgery :... Jan 2024Reduction and stabilisation of fractures at the earliest is valuable in the paediatric age groups. This novel technique focuses on stabilisation of the fracture...
BACKGROUND
Reduction and stabilisation of fractures at the earliest is valuable in the paediatric age groups. This novel technique focuses on stabilisation of the fracture fragments using vicryl, which has an added advantage to conventional plating and wiring. This study aimed on a novel cost-effective technique of stabilising the paediatric mandibular fracture using 2-0 resorbable polyglactin 910 suture with minimal trauma to tooth buds and bone and adequate stability.
TECHNIQUE
After raising a full-thickness mucoperiosteal flap, the fracture segments are identified and reduced. 1.6mm drill bit is used to make holes through the buccal cortex on either side of the fractured segment in an anteroposterior direction. The patency of holes is checked by passing a long 26-gauge wire. The proximal end of the wire is bent into a loop, a 2-0 resorbable polyglactin suture (vicryl) is passed through this loop and the loop is pressed in place to lock the suture. The wire with the attached suture is pulled through the distal end. Once the suture is secure in place, the 26G wire is cut, and the two ends of sutures are knotted and stabilised. The mucoperiosteal flap is then closed.
CONCLUSION
A novel method of stabilisation of paediatric fracture without hampering the tooth and jaw growth, especially in the financially unstable population. 2-0 polyglactin 910 suture is cost-effective, $2 US, compared to resorbable plates costing about $150 US, and easily available. Polyglactin 910 takes 40-60 days for resorption, and half-life tensile strength is 2 weeks; thus, it gives adequate stability and time for callus formation and does not damage the tooth buds or bone by cutting through them.
Topics: Humans; Child; Mandibular Fractures; Polyglactin 910; Neurosurgical Procedures; Fracture Fixation, Internal
PubMed: 38259021
DOI: 10.4103/ajps.ajps_127_22 -
The Journal of Clinical Pediatric... Jan 2024To investigate the role of a fully digital process in the surgical treatment of mandibular fractures in children. We analyzed a complete dataset from 22 children with...
To investigate the role of a fully digital process in the surgical treatment of mandibular fractures in children. We analyzed a complete dataset from 22 children with mandibular fractures treated with digital surgical assistance. The patient's treatment process included preoperative thin layer CT (Computed Tomography) scanning, computer-aided design (3D reconstruction, virtual reduction, and internal fixation device determination and shaping), and 3D printing (jaw model, bite plate). We used occlusal and shaping plates during surgery to assist in fracture reduction and fixation. During the follow-up, we observed the occurrence of fracture healing, occlusal relationships, opening degrees, and complications in pediatric patients after surgery. Next, we used the 3D overlay function of MIMICS software to compare the preoperative surgical design with postoperative jaw imaging data to evaluate the overall surgical effect. The postoperative imaging data showed good fracture healing, normal occlusion during follow-up, and significant improvement in opening degrees. The mean preoperative opening degree was 23.59 ± 2.89 mm, and the mean postoperative opening degree was 29.82 ± 1.79 mm; there was a significant difference between these two parameters ( < 0.05). There were no complications such as tooth germ injury, nerve injury or fracture block displacement. The postoperative mandibular imaging data was imported into MIMICS software for 3D overlay visualization, and the postoperative mandibular morphology recovery was well-matched with the preoperative design. We measured the average upper deviation (0.65 ± 0.09) mm and the average lower deviation (-0.57 ± 0.14) mm. The fully digital process has a precise, minimally invasive, and safe effect in the surgical treatment of mandibular fractures in children, and the clinical effect is satisfactory.
Topics: Humans; Child; Mandibular Fractures; Fracture Fixation, Internal; Fracture Healing; Printing, Three-Dimensional; Computer-Aided Design
PubMed: 38239165
DOI: 10.22514/jocpd.2024.014 -
Royal Society Open Science Jan 2024The mandible or lower jaw is the largest and hardest bone in the human facial skeleton. Fractures of the mandible are reported to be a common facial trauma in emergency...
The mandible or lower jaw is the largest and hardest bone in the human facial skeleton. Fractures of the mandible are reported to be a common facial trauma in emergency medicine and gaining insights into mandibular morphology in different facial types can be helpful for trauma treatment. Furthermore, features of the mandible play an important role in forensics and anthropology for identifying gender and individuals. Thus, discovering hidden information of the mandible can benefit interdisciplinary research. Here, for the first time, a method of artificial intelligence-based nonlinear dynamics and network analysis are used for discovering dissimilar and similar radiographic features of mandibles between male and female subjects. Using a public dataset of 10 computed tomography scans of mandibles, the results suggest a difference in the distribution of spatial autocorrelation between genders, uniqueness in network topologies among individuals and shared values in recurrence quantification.
PubMed: 38234434
DOI: 10.1098/rsos.231166 -
The Journal of ECT Jan 2024Despite advances in pharmacotherapy, electroconvulsive therapy (ECT) remains a mainstay treatment option in psychiatry. This study aims to determine the occurrence of...
OBJECTIVE
Despite advances in pharmacotherapy, electroconvulsive therapy (ECT) remains a mainstay treatment option in psychiatry. This study aims to determine the occurrence of oral injury from ECT modified with the use of an inexpensive, disposable, hand-made oral protector customized to the dental needs of the individual patient.
METHOD
Based on data collected between January 1, 2013, and December 31, 2018, registered patients who had received ECT were evaluated retrospectively. We investigated the incidence of oral complications such as dental fractures, dental avulsion, temporomandibular joint dislocation, jaw pain, and soft tissue, lip, and tongue injuries in a single center.
RESULTS
There were 1750 male patients (59.6%) and 1187 female patients (40.4%), with a mean age of 35.20 ± 11.59 years. The incidence of oral injury was 0.1% per patient (4/2937) and 0.01% per session (4/22135). Oral complication characteristics included mucosal abrasion in 2 patients, dental fracture in 1 patient, and tooth avulsion in one. No dental fracture or avulsion in our patient population has resulted in aspiration. We found no evidence of jaw pain, temporomandibular joint dislocation, or injury to the lip or tongue.
CONCLUSION
Our results demonstrate a minimum risk of oral complications during ECT and also provide additional justification for an adequate oral assessment by the ECT team before the procedure.
PubMed: 38227895
DOI: 10.1097/YCT.0000000000000994 -
Case Reports in Dentistry 2024Temporomandibular joint ankylosis is an important entity that dentists and maxillofacial surgeons should know about. It clinically manifests through a permanent...
Temporomandibular joint ankylosis is an important entity that dentists and maxillofacial surgeons should know about. It clinically manifests through a permanent limitation of mandibular movements coupled with mouth opening inferior to 3 cm. This serious pathology can have serious functional repercussions, such as mastication problems, speech troubles, eating disorders, and jaw growth hindrance, in addition to the psychological difficulties in coping with such a condition in daily life. Herein, we present a radiological and chronological illustration of the evolution of temporomandibular joint ankylosis following an overlooked traumatic fracture of the mandibular condyle. The present case report involves an 8-year-old patient referred for a gradually evolving mouth opening limitation following a car accident. Tomodensitometry was helpful as it revealed an osseous block between the left temporomandibular joint surfaces, showing an ankylosis. Posttraumatic cerebral computed tomography scan was performed. It revealed an undetected fracture of the left condyle. The aim of this paper was to show how a traumatic ankylosis could have been avoided if enough attention was paid to the interpretation of immediate posttraumatic computed tomography scans. A thorough dental examination must be carried out once vital emergency is over. Early diagnosis of temporomandibular joint trauma is a crucial factor in preventing complications, such as ankylosis and its consequent oral dysfunctions. The dentist must automatically suspect condylar fracture when a child presents a history of head trauma, especially a mandibular trauma. This case should be a reminder that although temporomandibular joints are very often left out in patients' vital emergency first examination, temporomandibular joints/they are still a highly important structure which omission, and thus, dysfunction, if lesions are present, can lead to nonnegligible medico-legal consequences/that temporomandibular joints should be taken into account during patients' vital emergency first examination because if they are neglected, in the presence of lesions, they cause dysfunction, thus leading to nonnegligible medico-legal consequences.
PubMed: 38223910
DOI: 10.1155/2024/5101486 -
BMC Oral Health Jan 2024One-point fixation was superior to the two and three-points fixation in minimally displaced zygomaticomaxillary complex (ZMC) fracture regarding the cost, invasiveness,...
BACKGROUND
One-point fixation was superior to the two and three-points fixation in minimally displaced zygomaticomaxillary complex (ZMC) fracture regarding the cost, invasiveness, scaring, number of wounds, and operation time. Accordingly, this study aimed to predict which one-point fixation is the most stable in managing minimally displaced ZMC fracture.
MATERIAL & METHODS
This study simulated the different one-point fixation approaches on three ZMC models after fracture reduction and application of all forces exerted on the fractured area. The findings were represented as stress impact on the ZMC fracture and plating system as well as the inter-fragments micro-motion.
RESULTS
The von misses stresses of plates for the zygomaticofrontal, infra-orbital rim, and zygomaticomaxillary buttress model were (66.508, 1.285, and1.16 MPa) respectively. While the screws' von misses for the infraorbital rim, zygomaticofrontal, and zygomaticomaxillary buttress models were (13.8, 4.05, and 1.60 MPa) respectively. Whereas, the maximum principles stress at zygomaticofrontal, zygomaticomaxillary buttress, and infraorbital rim models were (37.03, 37.01, and 34.46 MPa) respectively. In addition, the inter-fragment micro-motion for zygomaticomaxillary buttress, infraorbital rim, and zygomaticofrontal models were (0.26, 0.25, and 0.15 mm) respectively.
CONCLUSION
One-point fixation at zygomaticomaxillary buttress is the preferred point because it is exposed to low stresses, and the inter-fragment micro-motion is within the approved limit with the elements in the same direction of fixation which indicates the rigid fixation. In addition, it is less palpable and scarless.
TRIAL REGISTRATION
clinical trial.gov (NCT05819372) at 19/04/2023.
Topics: Humans; Zygomatic Fractures; Fracture Fixation, Internal; Finite Element Analysis; Maxillary Fractures; Tomography, X-Ray Computed
PubMed: 38178180
DOI: 10.1186/s12903-023-03822-1 -
Journal of Oral and Maxillofacial... Jan 2024Scientific evidence of nonsurgical site-related complications in mandibular fracture patients is limited.
BACKGROUND
Scientific evidence of nonsurgical site-related complications in mandibular fracture patients is limited.
PURPOSE
The purpose was to measure the frequency of nonsurgical site complications in patients with mandible fractures, describe the types of complications, and identify the risk factors associated with these complications.
STUDY DESIGN, SETTING, SAMPLE
A retrospective cohort study was conducted at the Helsinki University hospital between 2018 and 2021. Patients undergoing surgery with open reduction and internal fixation of mandibular fracture(s) were evaluated. Patients under 16 years of age were excluded.
PREDICTOR VARIABLE
Primary predictor variable was age. Patient-related predictor variables were sex, long-term disease(s), smoking, and alcohol and/or drug abuse. Injury and fracture-related variables were injury mechanism, type and site of facture, combined craniofacial fracture(s), and associated injury(s).
MAIN OUTCOME VARIABLE(S)
The primary outcome variable was nonsurgical site-related postoperative complication. The secondary outcome variable was type of complication.
COVARIATES
Not applicable.
ANALYSES
The main outcome variable was cross tabulated for pairwise comparisons with predictor variables. Multivariate logistic regression was performed for statistically significant (P < .05) variables.
RESULTS
The data included 314 patients (age range: 16 to 89 years; mean age: 38 years old; median age: 33 years old); most (78.3%) were men. Nonsurgical site-related postoperative complications occurred in 6.7% of patients. The most common complication type was pulmonary complication (36.0%), followed by urinary complication (20.0%) and general infection (16.0%). Nonsurgical site-related postoperative complications were most likely to occur in patients who were elderly (adjusted odds ratio [aOR] 5.55; 95% CI 1.92 to 16.21; P = .002), had combined craniofacial fractures (aOR 2.92; 95% CI 1.06 to 8.03; P = .038), and abused alcohol or drugs (aOR 4.51; 95% CI 1.70 to 11.96; P = .003). Pulmonary complications occurred more often in elderly patients, whereas urinary complications were more common in younger patients.
CONCLUSIONS AND RELEVANCE
The types of nonsurgical site complications in mandibular fracture patients increase and vary according to the patient's age. Awareness of possible complications related to different age groups helps anticipate and identify these in clinical work, and to consider the overall treatment of the patient beyond the fracture.
Topics: Male; Humans; Aged; Adult; Adolescent; Young Adult; Middle Aged; Aged, 80 and over; Female; Mandibular Fractures; Retrospective Studies; Treatment Outcome; Postoperative Complications; Fracture Fixation, Internal
PubMed: 38164998
DOI: 10.1016/j.joms.2023.10.004 -
Problemy Radiatsiinoi Medytsyny Ta... Dec 2023assessment of clinical-hematological and metabolic-biochemical parameters of the of bone tissue and hormonal regulation depending on the serum iron content and radiation...
OBJECTIVE
assessment of clinical-hematological and metabolic-biochemical parameters of the of bone tissue and hormonal regulation depending on the serum iron content and radiation dose values in children living on radiologically contaminated territories after the ChNPP accident in Ukraine.
MATERIALS AND METHODS
Children (n = 271) living on radiologically contaminated territories (RCT) of Ukraine were involved in the study. Three study groups were formed according to the serum iron level (SIL), namely group I with SIL 10.0-22.0 μmol/l (n = 92), group II with SIL 23.0-34.0 μmol/l (n = 144), and group III with SIL above 35.0 μmol/l (n = 35). Diseases in the family tree, bodyweight at birth, complaints on osalgia, bone fractures, jaw anomalies, dental caries, and obesity were accounted. Morphometric parameters of erythrocytes and hemogram elements were analyzed. Creatinine, alkaline phosphatase, calcium, total protein, iron, cholesterol, bilirubin, and transaminases were assayed in blood serum. The urine content of the 19 free amino acids, serum content of the free thyroxine (FT4), pituitary thyroid-stimulating hormone (TSH), and cortisol were assayed both with bone tissue density. Individual radiation doses were calculated.
RESULTS
In 12.9 % of cases the SIL was > 35.0 μmol/l. Relatives with endocrine diseases were often present in the family tree of children with SIL > 23.0 μmol/l. There were increased urine content of the free amino acids (p < 0.05) and signs of protein degradation under high SIL. Contents of amino acids involved in collagen synthesis and antioxidant status (alanine, serine, glutamine, aspartic acid) and iron metabolism (arginine, leucine) were assayed at the highest levels (p < 0.05). Urinary levels of valine, lysine, and methionine, which are associated with iron metabolism, were decreased (p < 0.05). An inverse correlation (rs = -0.58; p < 0.01) was established between the serum TSH and cortisol levels regardless of the SIL. Serum TSH level directly correlated with urine content of amino acids involved in collagen synthesis. An inverse correlation (rs = -0.55; p < 0.001) was established between the serum TSH level and urine content of tyrosine that is essential for the thyroid hormone (triiodothyronine and thyroxine) synthesis.Cortisol was found having a negative effect on protein synthesis. Inverse correlation was established between the serum cortisol level and urine content of the free amino acids essential for collagen synthesis. There was no dependence of the average radiation dose values on the SIL. An inverse correlation was determined between the patient's radiation dose and SIL > 35.0 μmol/l (rs = -0.29; p < 0.05).
CONCLUSIONS
The increased SIL in children living on RCT may occur due to both a genetic predisposition and the acquired factors driving protein and mineral metabolism of bone and their hormonal regulation.
Topics: Child; Infant, Newborn; Humans; Thyroxine; Ukraine; Hydrocortisone; Thyrotropin; Iron; Amino Acids; Collagen
PubMed: 38155126
DOI: 10.33145/2304-8336-2023-28-239-253 -
Problemy Radiatsiinoi Medytsyny Ta... Dec 2023identification of clinical and metabolic characteristics of osteogenesis and factors affecting bone mineral density (BMD) in children living in radioactively...
OBJECTIVE
identification of clinical and metabolic characteristics of osteogenesis and factors affecting bone mineral density (BMD) in children living in radioactively contaminated territories (RCT) after the ChNPP accident for the use of therapeutic and preventive measures aiming to reduce the incidence of disorders.
MATERIALS AND METHODS
Children aged 4 to 18 years old (n = 539) were involved in the study within 4 age groups, namely under 7 years old, 7-10 years old, 10-14 years old, older than 14 years old. Studied parameters in children with a reduced BMD (85-65 relative units and under 65 relative units) were estimated vs. the normative BMD (100-85 relative units) cases. Diagnosis of osteopenia and osteoporosis in children was established according to the BMD T-index. Family history of the relatives of children was studied. Body weight at birth, fractures of the long bones, complaints of osalgia, jaw anomalies, dental caries, presence of obesity, and hypermobility syndrome (HMS) were assessed. Peripheral blood biochemical tests were performed featuring the serum total protein, alkaline phosphatase (APh), calcium, vitamin D, creatinine, serum iron (SI), ferritin, cortisol, pituitary thyroid-stimulating hormone (TSH), and free thyroxine (FT4) assay. BMD was measured and radiation doses in children were reconstructed.
RESULTS
BMD depended on the age of children. A direct correlation was established between the cholelithiasis and urolithiasis incidence (р < 0.01), cancer and endocrine diseases (р < 0.05) in the relatives of children that had BMD under 65 relative units. Dental caries developed more often (р < 0.05), while obesity was less frequent (р < 0.05) in the subjects with BMD < 65 relative units. A direct correlation was established between the level of serum creatinine and BMD (р < 0.01), and there was an inverse correlation between the serum APh level and BMD (р < 0.001).Every third child had a vitamin D deficiency. Fractures of long bones and increased content of SI and TSH were characteristic for the children having got osteopenia (BMD within 85-65 relative units), while besides a predisposition to bone fractures the higher levels of SI, APh, cortisol both with calcium deficiency were found in children with osteoporosis (BMD < 65 relative units) compared to the general group with a similar BMD. An increased incidence of HMS was characteristic too. Radiation doses in children with osteopenia were higher than in those with osteoporosis: (1.17 ± 0.09) mSv and (0.92 ± 0.06) mSv respectively (р < 0.05). No correlation was found between the radiation doses and clinical signs, blood biochemistry or BMD.
CONCLUSIONS
Study of the functional mechanisms of bone structures in children, depending on their metabolism, had made it possible to reveal the factors that affect bone formation in children living in RCT after the ChNPP accident, and to form the population groups for the timely application of therapeutic and preventive measures aiming to reduce the incidence of disorders of musculoskeletal system.
Topics: Child; Infant, Newborn; Humans; Child, Preschool; Adolescent; Thyroid Gland; Calcium; Hydrocortisone; Bone and Bones; Osteoporosis; Bone Diseases, Metabolic; Fractures, Bone; Thyrotropin; Obesity; Dental Caries
PubMed: 38155125
DOI: 10.33145/2304-8336-2023-28-225-238