Etiopathogenic factors and treatment of Müller-Weiss disease. / Factores etiopatogénicos y tratamiento de la enfermedad de Müller-Weiss.

BACKGROUND AND AIM: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. MATERIALS AND METHODS: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. RESULTS: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. CONCLUSIONS: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.

[Translated article] Aetiopathogenic factors and treatment of Müller-Weiss disease.

BACKGROUND AND AIM: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. MATERIALS AND METHODS: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. RESULTS: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. CONCLUSIONS: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Effect of conducting polymer poly (3,4-ethylenedioxythiophene) (PEDOT) nanotubes on electro-optical and dielectric properties of a ferroelectric liquid crystal.

A detailed comparative study of the dielectric and electro-optical properties of a ferroelectric liquid crystal (FLC) and FLC after having doped with conducting polymer Poly (3,4-ethylenedioxythiophene) (PEDOT) nanotubes is done. The electro-optic study reveals a lower electrical response time, rotational viscosity and spontaneous polarization in the FLC/PEDOT nanocomposite system. By fitting the capacitance with voltage in a Preisach model, four dipolar species in both FLC and composites system have been obtained. The orientation of the four dipolar species in the composites system is such that the effective dipole moment in the transverse direction of the FLC molecule is less than that in FLC compound.

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated families exhibiting clinical signs of HED (22 XLHED males, 5 autosomal recessive forms) were retrospectively included. In the sample, 25 different mutations on EDA and EDAR genes were detected; 10 were not previously described. EDA and EDAR mutations corresponded respectively to 80.0% and 20.0% of the mutations. The dental phenotype analysis revealed a mean number of primary and permanent missing teeth ranging respectively from 14.5 (4-20) to 22.5 (10-28); the majority of the patients exhibited dysmorphic teeth. Overall, no differential expression in the degree of oligodontia according to either the mutated gene, the mutated functional sub-domains, or the mutation type, could be observed. Nevertheless, the furin group exhibited severe phenotypes unobserved in the TNF group. Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis. The present genotypic-phenotypic findings may add to the knowledge of the consequences of the molecular dysfunction of EDA-NF-kB in odontogenesis, and could be helpful in genetic counseling to distinguish autosomal forms from other HED syndromes.

1H and 13C NMR data of benzylsulfonic acids-model compounds for lignosulfonate.

Although there has been a major progress in the analysis of native lignin using NMR in the recent years, not much attention has been paid to lignosulfonates. Lignosulfonates are more difficult to analyse because of solubility issues and a more complex structure owing to chemical modification during the pulping process. A large database of NMR data is available for the building blocks of native lignin, but no data are available for the corresponding sulfonated compounds. We have prepared 15 monomeric and seven dimeric sulfonated model compounds characterised by NMR. These include models for end groups, as well as beta-beta, beta-5, 5-5 and beta-O-5 linkages in lignosulfonates, and will be important for further structural investigation on lignosulfonate.

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes. The aim of this review was to analyze the dental phenotypes of syndromic and nonsyndromic dental agenesis linked to gene mutations. A systematic review of the literature focusing on genes ( MSX1, PAX9, AXIN2, PITX2, WNT10A, NEMO, EDA, EDAR, EDARADD, GREMLIN2, LTBP3, LRP6, and SMOC2) known to be involved in dental agenesis was performed and included 101 articles. A meta-analysis was performed using the dental phenotypes of 522 patients. The total number and type of missing teeth were analyzed for each mutated gene. The percentages of missing teeth for each gene were compared to determine correlations between genotypes and phenotypes. Third molar agenesis was included in the clinical phenotype assessment. The findings show that isolated dental agenesis exists as part of a spectrum of syndromes for all the identified genes except PAX9 and that the pattern of dental agenesis can be useful in clinical diagnosis to identify (or narrow) the causative gene mutations. While third molar agenesis was the most frequent type of dental agenesis, affecting 70% of patients, it was described in only 30% of patients with EDA gene mutations. This study shows that the pattern of dental agenesis gives information about the mutated gene and could guide molecular diagnosis for geneticists.

Msx2 -/- transgenic mice develop compound amelogenesis imperfecta, dentinogenesis imperfecta and periodental osteopetrosis.

The physiological function of the transcription factor Msx2 in tooth and alveolar bone was analysed using a knock-in transgenic mouse line. In this mouse line, the beta-galactosidase gene was used to disrupt Msx2: thus, beta-galactosidase expression was driven by the Msx2 promoter, but Msx2 was not produced. This allowed to monitor Msx2 expression using a beta-galactosidase assay. Msx2 transgenic mice ubiquitously and continuously expressed the mutated Msx2-nlacZ gene in cells of the complex formed by tooth and alveolar bone. Msx2 -/- homozygous mice displayed a wide spectrum of alterations in tooth eruption and morphology as well as dental and periodontal defects from the first post-natal weeks up to 6 months. These defects culminated with the formation of an odontogenic tumour at the mandibular third molar site. This study suggests that bone resorption is a functional target of Msx2 in the alveolar compartment, since Msx2 was expressed in osteoclasts, with the highest expression levels found in the active sites of bone modelling associated with tooth eruption and root elongation. The RANK osteoclast differentiation pathway was affected in microdissected Msx2 -/- mouse alveolar bone (as inferred by RANK ligand mRNA levels) compared to basal bone and wild-type controls. Decreased alveolar osteoclast activity was observed in Msx2 -/- mice, similar to that seen in osteopetrosis, another condition in which osteoclast activity is impaired and odontogenic tumours form. These data suggest a pleiotropic role for Msx2 in oral bone growth from birth until adult homeostasis. RANK pathway appeared to be modulated by Msx2, in addition to the previously reported modulations of BMP4 and laminin5alpha3 in early tooth development. Non-overlapping Msx1 and Msx2 expression patterns suggested that these two homeogenes play non-redundant roles in skeletal growth, with Msx1 targeting basal bone and Msx2 targeting alveolar bone. This study provides a detailed analysis of the phenotype resulting from the Msx2 null mutation and identifies the impact of Msx1 and Msx2 on post-natal oral bone growth.

Temporomandibular joint reconstruction using costochondral graft.

Reconstruction of the temporomandibular joint (TMJ) after release of ankylosis by condylectomy is a challenging problem in maxillo-facial surgery. A successful reconstruction implies correct restoration of form and, in children, future symmetrical growth. Bilateral bony ankylosis of the temporomandibular joint in a female patient was diagnosed in the Oral and Maxillofacial Surgery Department of Bangabandhu Sheik Mujib Medical University (BSMMU) at the time when she had severe facial deformity with typical bird face appearance. The condition was treated with costochondral graft following a bilateral condylectomy. At the time of treatment, there was an expectation that further orthognathic surgery or bone grafting would be required to correct the skeletal deformity. However, with the release of the ankylosis and growth of the costochondral graft, a good functional and esthetic result can be achieved without further surgery. It is important that dentists be aware of the clinical signs and symptoms of TMJ ankylosis, to allow early diagnosis and treatment.

Trans-antral temporalis transfer for the repair of adult cleft palates.

Temporalis muscle transfer is a versatile technique frequently used for reconstructive procedures in the maxillofacial region. However the thickness of the pedicle may interfere with masticatory function when used anteriorly in the oral cavity. To repair full-length mid-palatal defects in fully dentate patients the flap can be passed through the maxillary sinus and combined with local repair of the soft palate, thus avoiding any occlusal trauma from the posterior teeth. The operation is a single stage procedure with low morbidity and few complications, and is a useful technique for repairing the large untreated clefts frequently encountered in developing countries. The procedure is used by members of the Australian and New Zealand Association of Oral and Maxillofacial Surgeons Bangladesh Project who have operated in Dhaka teaching hospitals on a regular basis since 1991.

Incidence of dry socket in surgical removal of impacted third molar.

In a search for dry socket five hundred and thirty six (536) impacted third molars were surgically removed among 435 patients. Each patient was examined clinically and radiographically before surgery. 108 impacted teeth were removed for prophylactic and 428 for therapeutic reasons. A standard operating procedure was performed for each case and pre-operative and post-operative regimens was employed. After surgery each case was followed to determine the absence or presence of signs and symptoms of dry socket. It was found that total incidence of alveolar osteitis (dry socket) was 10.26%.

An analytic study of surgical management of the temporomandibular joint ankylosis: an experience in Bangladesh.

The clinical observations on 14 cases of temporomandibular joint (TMJ) ankylosis including age and sex incidences as well as surgical management are presented in this paper. Ankylotic TMJ arthroplasty which include condylectomy with or without interpositional materials such as auricular cartilage and temporalis muscle flap to prevent reankylosis was used as the corrective measure. The accessory procedures like costochondral grafts and saggital split osteotomy to restore ramus height accompanied by camouflaging genioplasty in some of these cases were carried out. Besides, bilateral concomitant coronoidectomy were done in all cases. The patients were divided in three groups. In four cases only condylectomy was performed; the result was poor in three cases and moderate in one case. Condylectomy accompanied by interpositioning of auricular cartilage was done in another four patients; the result was poor in one case, moderate in one case and good in 2 cases. Six subjects were treated with condylectomy along with interpositioning of temporalis muscle flap; the result was good in 5 and moderate in 1 case. Condylectomy with temporalis muscle flap appeared to be the best method for TMJ ankylosis.

Ameloblastoma--a clinical study of 13 cases.

Ameloblastoma is commonly encountered odontogenic tumour in Bangladesh. A clinical assessment of this tumour is presented in this paper with the particular attention to its age, and sex incidence, clinical presentation, and its management. Complete removal of the neoplasm is the treatment of choice regardless the method of accomplishment to obtain complete cure. Small lesion, particularly in young patients may by given chance to be managed by enucleation and curettage exposing the healthy surrounding tissue. However radical resection of the tumour is the most efficient treatment particularly in large tumours to avoid recurrence.

Bilateral facial microsomia associated with separation of the posterior portions of the maxilla. A case report.

A case of bilateral facial microsomia associated with separations of the posterior portion of the maxilla is presented. The X-ray findings revealed hypoplasia of the condyles, absence of the coronoid processes of the mandible, and displacement of the pterygoid processes. Cephalometric analysis revealed a characteristic feature of the facial skeleton a rotation clockwise to the anterior cranial base.

Mandibular traction for relieving respiratory distress in the Pierre Robin Anomaly. A case report.

A case of Pierre Robin Anomaly with severe, prolonged respiratory distress and feeding difficulties is presented. The respiratory distress is adequately relieved by mandibular forward traction. The procedure employing a mandibular suspension and elastic traction system is described. Feeding under the traction was successful, providing more effective self-control of the tongue. The authors recommend the mandibular traction device described here as a very simple life-saving approach to the problems in the Pierre Robin Anomaly.