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Frontiers in Neurology 2024Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome with heterogeneous symptoms, which makes it a challenge for early diagnosis. The mutation...
Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel variation from a family with consanguineous marriage.
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome with heterogeneous symptoms, which makes it a challenge for early diagnosis. The mutation of is considered intimately related to the pathogenesis of ChAc. To date, diverse mutation patterns of , consisting of missense, nonsense, and frameshift mutations, have been reported. In this study, we first report a clinical case that was misdiagnosed as epilepsy due to recurrent seizures accompanied by tongue bite for 9 months, which was not rectified until seizures were controlled and involuntary orolingual movements with awareness became prominent and were confirmed to be orolingual dyskinesia. The patient was eventually diagnosed as ChAc based on whole-exome sequencing revealing novel homozygous c.2061dup (frameshift mutation) and c.6796A > T dual mutations in . The patient from a family with consanguineous marriage manifested epileptic seizures at onset, including both generalized tonic-clonic seizures and absence but normal long-term electroencephalography, and gradually developed orofacial dyskinesia, including involuntary tongue protrusion, tongue biting and ulcers, involuntary open jaws, occasionally frequent eye blinks, and head swings. The first test of the peripheral blood smear was negative, and repeated checks confirmed an elevated percentage of acanthocytes by 15-21.3%. Structural brain MRI indicated a mildly swollen left hippocampus and parahippocampal gyrus and a progressively decreased volume of the bilateral hippocampus 1 year later, along with atrophy of the head of the caudate nucleus but no progression in 1 year. We deeply analyzed the reasons for long-term misdiagnosis in an effort to achieve a more comprehensive understanding of ChAc, thus facilitating early diagnosis and treatment in future clinical practice.
PubMed: 38933328
DOI: 10.3389/fneur.2024.1352467 -
Dentistry Journal May 2024The masticatory function of patients with skeletal anterior open bite (OPEN) is reported to be impaired compared with that of patients with normal occlusion (NORM). In...
The masticatory function of patients with skeletal anterior open bite (OPEN) is reported to be impaired compared with that of patients with normal occlusion (NORM). In this study, we compared brain blood flow (BBF) in patients with OPEN and NORM and investigated the factors related to BBF during mastication in patients with OPEN. The study included 17 individuals with NORM and 33 patients with OPEN. The following data were collected: number of occlusal contacts, jaw movement variables during mastication, and BBF measured with functional near-infrared spectroscopy during chewing. The number of occlusal contacts, maximum closing and opening speeds, closing angle, and vertical amplitude were smaller in the OPEN than in the NORM group. Interestingly, BBF increased less in the OPEN group. Correlation analysis revealed that several parameters, including number of occlusal contacts and closing angle, were correlated with changes in BBF during mastication. These results suggest that not only occlusion but also jaw movement variables and factors related to masticatory muscles contribute to the chewing-related increase in BBF. In conclusion, BBF increases less during mastication in patients with OPEN than in those with NORM. In addition, the higher increase in BBF is correlated with jaw movement. Together, we discovered that OPEN exhibits significant adverse effects not only on masticatory function but also on brain function.
PubMed: 38920862
DOI: 10.3390/dj12060161 -
Epidemiologia (Basel, Switzerland) Jun 2024This study aims to describe the prevalence of malocclusion and identify associated factors in preschool children. Completed in 2022-2023, this cross-sectional study...
This study aims to describe the prevalence of malocclusion and identify associated factors in preschool children. Completed in 2022-2023, this cross-sectional study included 523 children aged 26 to 80 months in municipal schools in Salvador. An oral examination was carried out on the children, and a questionnaire was self-administered by the parents. Descriptive analyses and multivariate logistic regression (the backward method, -value ≤ 0.05, 95% CI) were conducted. The majority of children were female (51.82%), over 54 months old (52.2%), Black or mixed race (90.63%), and not affected by COVID-19 (92.35%). The prevalence of malocclusion was 43.21%, with open bite as the most common condition. There was a significant association between malocclusion and screen time (OR: 1.34; : 0.116; CI: 1.0-1.94), physical/psychological aggression (OR: 2.55; : 0.031; CI: 1.0-5.98), consumption of ultra-processed foods (OR: 1.77; : 0.003; CI: 1.22-2.57), digital suction (OR: 3.1; : 0.001; CI: 1.56-6.16), and the habit of biting objects (OR: 1.56; : 0.121; CI: 1.0-2.73). The promotion of comprehensive health in early childhood and psychosocial interventions are recommended, aiming to reduce screen time, aggression, consumption of ultra-processed foods, thumb sucking, and the habit of biting objects to prevent malocclusion.
PubMed: 38920754
DOI: 10.3390/epidemiologia5020019 -
Cureus May 2024The tongue-thrusting habit significantly contributes to the development of the anterior open bite (AOB), particularly when an infantile swallowing pattern persists into...
The tongue-thrusting habit significantly contributes to the development of the anterior open bite (AOB), particularly when an infantile swallowing pattern persists into the later stages of childhood and adolescence. This habit results in the protrusion of the anterior teeth. Treatment typically involves addressing the underlying causes, incorporating retraining exercises, and utilizing mechanical appliances to control tongue positioning. However, commonly used devices such as palatal cribs or spurs may present challenges, including speech impediments, chewing difficulties, and the potential for unintended injuries. This paper presents a case report detailing the treatment of a patient with an AOB, dental protrusion, and spacing. The treatment approach included the application of a fixed tongue trainer, in the form of a modified bluegrass appliance. Subsequent fixed orthodontic therapy was employed to rectify proclined teeth within the dental arch.
PubMed: 38915991
DOI: 10.7759/cureus.61024 -
JPRAS Open Sep 2024Breast reconstruction following mastectomy is a critical component of breast cancer treatment, aimed at improving patient quality of life. However, the management is...
BACKGROUND
Breast reconstruction following mastectomy is a critical component of breast cancer treatment, aimed at improving patient quality of life. However, the management is fraught with potential complications, including skin necrosis and wound dehiscence, which can significantly impact clinical outcomes.
CASE PRESENTATION
We report a unique case of a patient, 5 years post-breast reconstruction following mastectomy and radiation therapy, who developed severe skin necrosis and wound dehiscence due to a brown recluse spider bite on the reconstructed breast. The complication necessitated the debridement of skin, removal of the implant, and further reconstruction with a latissimus flap.
DISCUSSION
The case underscores the unusual etiology of spider bite-induced necrosis in breast reconstruction and highlights the challenges and strategic considerations in managing such complications. Upon presentation, the patient's affected breast area showed signs of extensive necrosis and wound dehiscence, directly attributed to the cytotoxic effects of the brown recluse spider's venom. The venom's pathophysiology involves a complex cascade, leading to local and systemic effects. The local effects, marked by dermonecrosis, com- promised skin integrity in this instance. Systemic effects, not observed in this patient but potentially severe, can include hemolysis, coagulopathy, and acute renal failure, highlighting the seriousness of brown recluse spider bites.
CONCLUSION
In conclusion, this case illustrates the complexities of managing breast reconstruction post-mastectomy complications, particularly those caused by external factors such as brown recluse spider bites. It highlights the need for meticulous attention to unusual etiologies of necrosis and dehiscence, demonstrating the importance of adaptable surgical strategies and a thorough understanding of venom pathophysiology in ensuring successful patient outcomes.
PubMed: 38911670
DOI: 10.1016/j.jpra.2024.05.008 -
Journal of Clinical Medicine May 2024Anterior open bite (AOB) is characterized by the absence of occlusal contact between the maxillary and mandibular anterior teeth, while the posterior teeth are in...
Anterior open bite (AOB) is characterized by the absence of occlusal contact between the maxillary and mandibular anterior teeth, while the posterior teeth are in contact when occluded. Here, we aimed to clarify the difference in maxillary alveolar bone morphology in adult patients with and without AOB. This cross-sectional study was conducted on 50 adults aged 18-39 years: 25 patients without AOB (control group; 13 males and 12 females; age: mean ± standard deviation [SD], 22.2 ± 4.5 years) and 25 patients with AOB (9 males and 16 females; age: 24.2 ± 6.4 years). Using cone-beam computed tomography images, the height of the maxillary alveolar bone crest in the anterior and posterior teeth and thickness of the alveolar cortical bone on the labial and palatal sides were measured and compared between the two groups. An independent -test and Pearson's correlation analysis were used to examine statistical significance ( < 0.05). The AOB group showed a significantly longer ( = 0.016) posterior alveolar crest and thinner cortical bone on the buccal ( < 0.001) and lingual ( = 0.009) sides of the anterior region and the buccal ( = 0.006) sides of the posterior region than the control group did. Moreover, a significant negative correlation ( = 0.046; r = -0.403) was observed between bite force and cortical bone thickness on the buccal side of the posterior region in the AOB group. It is suggested that the absence of occlusal contact in the anterior area influences the alveolar bone morphology of the maxilla.
PubMed: 38892772
DOI: 10.3390/jcm13113061 -
SAGE Open Medical Case Reports 2024African tick bite fever is a rickettsiosis of the spotted fever group that is endemic to sub-Saharan Africa and the Caribbean. It is characterized by eschars at the...
African tick bite fever is a rickettsiosis of the spotted fever group that is endemic to sub-Saharan Africa and the Caribbean. It is characterized by eschars at the inoculation sites and a maculopapular rash which may be purpuric. We describe three cases that were diagnosed in Quebec City.
PubMed: 38881975
DOI: 10.1177/2050313X241260516 -
Head & Face Medicine Jun 2024Amelogenesis imperfecta (AI) is a genetically determined, non-syndromic enamel dysplasia that may manifest as hypoplasia, hypomaturation, or hypocalcification and can...
INTRODUCTION
Amelogenesis imperfecta (AI) is a genetically determined, non-syndromic enamel dysplasia that may manifest as hypoplasia, hypomaturation, or hypocalcification and can commonly be classified into four primary groups. In this retrospective analysis, specific orofacial characteristics are described and associated with each of the AI types based on a patient cohort from Witten/Herdecke University, Germany.
METHODS
Data from 19 patients (ten male and nine female, mean age 12.27 ± 4.06 years) with AI who presented at the Department of Orthodontics between July 2011 and December 2023 were analyzed. Baseline skeletal and dental conditions were assessed, including the presence of hypodontia, displacements, and taurodontism. AI was classified into classes I-IV based on phenotype. Treatment needs were evaluated according to the main findings following the German KIG classification, while the radiological enamel situation was determined using panoramic radiographs.
RESULTS
An approximately equal distribution between classes II and III was found and a slight inclination toward a dolichofacial configuration (ΔML-NSL: 5.07 ± 9.23°, ΔML-NL: 4.24 ± 8.04°). Regarding orthodontic findings, disturbance in tooth eruption as well as open bite were the most prevalent issues (both 36.8%, n = 7). The most common AI classes were type I and II, which show an almost even distribution about the skeletal classes in sagittal dimension, while dolichofacial configuration was found most frequently in vertical dimension.
CONCLUSION
Both clinical and radiological orthodontic findings in context with AI are subject to extensive distribution. It seems that no specific orofacial findings can be confirmed in association with AI with regard to the common simple classes I-IV. It may be more appropriate to differentiate the many subtypes according to their genetic aspects to identify possible associated orthodontic findings.
Topics: Humans; Amelogenesis Imperfecta; Male; Female; Retrospective Studies; Child; Adolescent; Germany; Radiography, Panoramic; Orthodontics, Corrective; Malocclusion
PubMed: 38877506
DOI: 10.1186/s13005-024-00436-y -
Clinical Case Reports Jun 2024The primary cause of complex AOB malocclusion is typically a combination of dental, skeletal, functional, and habitual factors. Open bite correction is a challenging...
The primary cause of complex AOB malocclusion is typically a combination of dental, skeletal, functional, and habitual factors. Open bite correction is a challenging treatment due to its complexity and the requirement for long-term stability, therefore, multidisciplinary treatment is often the best option for achieving stable esthetic outcomes.
PubMed: 38855087
DOI: 10.1002/ccr3.9023 -
BMC Oral Health Jun 2024This study aims to evaluate the prevalence of malocclusion and orthodontic features among schoolchildren in the West Bank, Palestine.
BACKGROUND
This study aims to evaluate the prevalence of malocclusion and orthodontic features among schoolchildren in the West Bank, Palestine.
METHODS
A stratified cluster sample of 1278 schoolchildren (620 males, 658 females, mean age 12 years and 5 months (± 0.5)) were examined. Candidates who had not received any previous orthodontic treatment were only included. Dental anomalies like missing and ectopic teeth were recorded. The anteroposterior occlusal relationship was assessed based on Angle classification. Overjet and overbite were measured. Crowding and spacing were recorded subjectively. In addition, crossbite, openbite, and midline displacement were recorded. The chi-square test and descriptive analysis were used statistically.
RESULTS
The study found Angle Class I molar relationship in 65%, Class II div 1 in 17%, Class II div 2 in 6%, and Class III in 12% of the sample. An overjet (OJ) of more than 4 mm was present in 17%, and 4% had OJ of more than 6 mm; an OJ of at least 0 mm or less in 36%, and 6% had a reverse OJ. A normal overbite was observed in 53%, while 28% had an increase and 19% had a decreased overbite. An anterior openbite (AOB) was present in 9%, and a scissor bite or anterior crossbite in 6% and 14%, respectively. A posterior crossbite was observed in 12% (9% unilateral and 3% bilateral). Midline displacement was found in (9%). Crowding was observed in 35% and 31% and spacing in 24% and 15% of the maxillary and mandibular arches, respectively. A statistically significant relationship between gender and midline shift, a diastema, spacing in the upper arch, and most dental anomalies was found; males were more affected (p < 0.05).
CONCLUSION
This study reported a high prevalence of malocclusion among schoolchildren in Palestine. A collaborative effort should be directed to obtain more monitoring and surveillance of malocclusion more frequently to prevent and control the exacerbation of the problem.
Topics: Humans; Male; Female; Malocclusion; Child; Prevalence; Overbite; Malocclusion, Angle Class II; Arabs; Malocclusion, Angle Class III; Diastema; Malocclusion, Angle Class I; Middle East; Open Bite; Tooth Eruption, Ectopic; Anodontia; Sex Factors; Adolescent
PubMed: 38849789
DOI: 10.1186/s12903-024-04432-1