Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pubmed, Scopus, Cochrane Library, WOS and OpenGrey. Eligibility criteria were defined. Individual studies were assessed for risk of bias using the New Ottawa Scale. For quantitative analysis, a meta-analysis was conducted. This scoping review is a hypothesis-generating research. Twenty-two studies met the eligibility criteria. Eight syndromes affected by the SCIII were targeted: Apert syndrome, Crouzon syndrome, achondroplasia, X-linked hypohidrotic ectodermal dysplasia (XLED), tricho-dento-osseous syndrome, cleidocranial dysplasia, Klinefelter and Down syndromes. Despite heterogeneity between studies [p < 0.05], overall effects showed that midface components were affected in Apert and Down Syndromes, lower face in Klinefelter Syndrome and midface and lower face components in XLED. Our review provides new evidence on the craniofacial characteristics of genetically confirmed syndromes exhibiting the SCIII phenotype. Four major regulatory pathways might have a modulatory effect on this phenotype. IMPACT: What does this review add to the existing literature? To date, there is no literature exploring which particular syndromes exhibit mandibular prognathism as a common trait. Through this research, it was possibly to identify the particular syndromes that share the skeletal Class III phenotype (mandibular prognathism) as a common trait highlighting the common genetic and molecular pathways between different syndromes acknowledging their impact in craniofacial development.

Retrospective Study of Oral and Maxillofacial Trauma in Portuguese Population.

Objective: The increasing significance of medicolegal evaluation following maxillofacial traumatic events constitutes a complex issue. This clinical research aimed to assess the current etiology of oral and maxillofacial injuries in Portuguese population. Material and methods: An epidemiological clinical observational study was conducted in Centro Hospitalar Lisboa Norte on a sample of 384 subjects diagnosed with oral and maxillofacial trauma, between 2018 and 2020. Data were collected through clinical reports and analyzed using SPSS version 27. Results: Women and men were nearly identical in the number and distribution, with 49.5% females and 50.5% males. In 2020, there was a decrease in the number of traumatic incidents compared to other years. Falls or accidental descents were found to be the most common cause of injury, accounting for 44.3%, followed by assaults accounting for 24.7%. A total of 84 subjects exhibited soft tissue injuries related to periodontal region. The upper central incisors (174) were the most frequently affected teeth with uncomplicated fractures, and the predominant form of treatment was the administration of pain medication. Conclusion: A correlation between falls or accidental descents, female subjects, and advancing age, as well as between assaults, male subjects, and adults, has been established. Falls or accidental descents and assault were the predominant etiologies, and the year 2020 exhibited a decrease in the incidents of traumatic events.

Tempo de sono, roncopatia e sonolência diurna excessiva de pacientes adultos seguidos em consulta odontológica / Sleep duration, snoring and excessive daytime sleepiness of adult patients followed in a dental consultation

O objetivo desta pesquisa foi a avaliação do tempo de sono, prevalência de roncopatia e sonolência diurna excessiva em adultos seguidos em consulta odontológica. A prevalência de sonolência subjetiva e de roncopatia foi de 24,5% e 49,1%, respectivamente, com 56,6% de pacientes apresentando excesso de peso (> 24,9 Kg/m2). A queixa de sonolência foi mais frequente nos grupos dos roncadores (30,8%) e de pacientes com peso excessivo (26,6%) do que nos grupos dos não roncadores (18,5%) e sem peso excessivo (21,7%). A prevalência de roncopatia foi de 35,9% nos pacientes com excesso de peso e de 13,2% naqueles sem excesso de peso. Conclui- -se que na população estudada existe uma elevada prevalência de problemas associados ao sono não avaliados anteriormente.

The purpose of this investigation was to study the sleep duration and prevalence of snoring and excessive daytime sleepiness of adults followed in a dental consultation. The prevalence of subjective sleepiness and snoring was 24,5% and 49,1%, respectively with 56,6% of patients presenting with excessive weight (BMI>24,9 Kg/m2). Sleepiness was more frequent within the groups of snorers (30,8%) and of patients with excessive weight (26,6%) than the group of non-snorers (18,5%) and without excessive weight (21,7%). The prevalence of snoring was 35,9% in patients with excessive weight and 13,2% in those without excessive weight. We concluded that in this population there is a high prevalence of sleep- -related problems without previous evaluation.

Anatomic factors related to bisphosphonate osteonecrosis of the jaws: a Portuguese retrospective study.

AIMS: The objectives of this study of bisphosphonate-related osteonecrosis of the jaws (BRONJ) were to determine local distribution, possible anatomically associated or determinant factors and other bone involvement of the disease, contributing with this new data towards the establishment of its prevalence in Portugal. MATERIAL AND METHODS: The authors made a retrospective study of patients presenting BRONJ, at the Department of Stomatology of Santa Maria University Hospital, in Lisbon (42 cases) from 1st January 2004, to April 30rd, 2011. SPSS Statistics was implemented. RESULTS: There was a higher prevalence of lesions in the lower jaw (66.7%), compared to the upper jaw (26.19%) and a significantly higher occurrence in alveolar bone (95.24%). The molars and premolars were the most affected areas (highest value at 6th sextant = 35.29%). In all cases, the onset of injury occurred after a medication period of up to 90 days, spontaneously in 14.29% of patients. CONCLUSIONS: For severity, BRONJ was a significant anatomoclinical entity in all 42 new cases in this study, and for discomfort (pain) in 81.1% of them. There was an anatomic correlation between the occurrence of the disease and its location in the jaws. There was a clinical association with trauma and type, route and length of administration of the bisphosphonate, with Zoledronate being administered intravenously in 76.19% of the cases. The jaws were the unique place where the disease occurred. Preventive measures should be implemented, avoiding trauma, and performing surgical procedures within 90 days after prescription.

Incidence of respiratory viruses among travelers with a febrile syndrome returning from tropical and subtropical areas.

Fifty million people are estimated to travel from industrial countries to the tropics annually. In spite of exhaustive studies and widely different diagnosis among returned patients, some cases of febrile illnesses remain without an etiological diagnosis, suggesting that these cases could be due to viral respiratory tract infections. From August 2005 to October 2006, 118 febrile patients without a specific diagnosis in their first visit at the Center for International Health of the Hospital Clínic of Barcelona were included. In all of them, in order to study respiratory viruses, a nasopharyngeal swab was collected. Clinical and radiological features and epidemiological data, as well as other samples for microbiologic studies, were also collected during consultation. Based on the physician's judgment at the time of consultation, patients were classified into four groups: respiratory symptoms (62%), febrile syndrome with nonspecific symptoms (24%), digestive symptoms (10%), and patients presenting both respiratory and digestive symptoms (4%). A pathogen microorganism was detected in 61 patients (52%). Respiratory viruses were detected in 44 out of 118 (37%) travelers included in the study, representing 56% of the patients with respiratory symptoms. The most frequently viruses detected were influenza virus (38%), rhinovirus (23%), adenovirus (9%), and respiratory syncytial virus (9%). Respiratory viruses have been shown to play an important role in imported fever. In light of the fact that international tourism is an increasing phenomenon, new strategies to prevent the spread of respiratory viruses should be considered, specially for influenza when a vaccine is available.

Metástasis endometrial de carcinoma lobulillar de mama / Endometrial metastases from lobular carcinoma of the breast

El sangrado de origen uterino en la mujer posmenopáusica nos hace pensar, de forma inmediata, en descartar un proceso maligno. En el caso de mujeres con antecedente de neoplasia primaria de otro origen hay que descartar la posibilidad de la metástasis uterina. Se presentan 2 casos de neoplasia de mama conocida, carcinoma lobulillar de tipo clásico, que evolucionaron con metástasis uterina. Uno de ellos presentó la forma clínica habitual, el sangrado genital; pero el segundo caso se diagnosticó de forma casual en un control del cáncer de mama. Se comenta el diagnóstico diferencial, así como la necesidad de la utilización rutinaria de las técnicas de imagen en las pacientes con cáncer de mama

Vaginal bleeding in postmenopausal women automatically suggest the presence of a malignant process. In women with a history of cancer, the possibility of uterine metastases must be ruled out. We report 2 cases of lobular carcinoma of the breast metastatic to the uterus. The first case presented as vaginal discharge, but the other was a chance finding in a routine follow-up visit. We discuss the differential diagnosis of this process and the need for the routine use of imaging modalities in the follow-up of patients with breast cancer

MR imaging of spinal infection: atypical features, interpretive pitfalls and potential mimickers.

The wide variability of MR features in spinal infection reflects rare distribution of discovertebral involvement, unexpected soft-tissue and bone abnormalities, un-usual complications or uncommon pathogens. In addition, several de-generative and inflammatory entities can clinically and radiologically resemble spinal infection. In this pictorial review, we illustrate the various atypical features that may be found in MR imaging of spinal infection,with emphasis on interpretative pit-falls and common mimickers.

Accessory ossicles and sesamoid bones of the ankle and foot: imaging findings, clinical significance and differential diagnosis.

Accessory ossicles and sesamoid bones are frequent findings in routine radiographs of the ankle and foot. They are commonly considered fortuitous and unrelated to the patient's complaint; however, they may eventually cause painful syndromes or degenerative changes in response to overuse and trauma. They may also suffer or simulate fractures. Our aim was to review, illustrate and discuss the imaging findings of some of the more frequent accessory ossicles and sesamoid bones of the ankle and foot region, with particular emphasis on those that may be of clinical significance or simulate fractures.

Accessory ossicles and sesamoid bones of the ankle and foot: imaging findings, clinical significance and differential diagnosis.

Accessory ossicles and sesamoid bones are frequent findings in routine radiographs of the ankle and foot. They are commonly considered fortuitous and unrelated to the patient's complaint; however, they may eventually cause painful syndromes or degenerative changes in response to overuse and trauma. They may also suffer or simulate fractures. Our aim was to review, illustrate and discuss the imaging findings of some of the more frequent accessory ossicles and sesamoid bones of the ankle and foot region, with particular emphasis on those that may be of clinical significance or simulate fractures.

Avulsion fractures and chronic avulsion injuries of the knee: role of MR imaging.

Avulsion fractures and chronic avulsion injuries of the knee are common lesions in sports-related trauma, especially among adolescents. Magnetic resonance imaging may prove useful in detecting and characterizing such lesions, and has several advantages with regard to other imaging modalities. We review, illustrate, and discuss the MR imaging features of some of the more frequent avulsion fractures and chronic avulsion injuries of the knee, including avulsion fractures of the cruciate ligaments, avulsion fractures of lateral and medial stabilizers, avulsion fractures and chronic avulsion injuries of the extensor mechanism, and avulsive cortical irregularities of the distal femur. The role of MR imaging in evaluating such lesions is emphasized.

Fluid collections and juxta-articular cystic lesions of the shoulder: spectrum of MRI findings.

The MR imaging features of fluid collections and juxta-articular cystic lesions of the shoulder are discussed, with special focus on those related to subacromial impingement and rotator cuff tears. Other more unusual fluid collections and cystic lesions are described, including rice-bodies bursitis, idiopathic synovial osteochondromatosis, dialysis-related amyloid arthropathy, hemophilic arthropathy, infectious conditions, non-infectious inflammatory arthritis, and paralabral cysts.

Dorsal defect on a multi-partite patella: imaging findings.

Coincidence of dorsal defect on a multipartite patella constitutes a rare cause of anterior knee pain in the first decades of life. Imaging findings of this uncommon symptomatic skeletal variant are discussed, with emphasis on MR features.

Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism.

A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed.

Epidural hematoma after epidural anesthesia in a patient with peripheral vascular disease. Case report.

BACKGROUND AND OBJECTIVES: Epidural hematoma is a severe, uncommon complication associated with epidural anesthesia in patients with peripheral vascular disease who require anticoagulant therapy. METHODS: An 84-year-old woman with acute left leg arterial ischemia underwent revascularization surgery under lumbar epidural anesthesia. Pre- and postoperative heparin was administered as an anticoagulant. RESULTS: Reperfusion of the leg was successful, however, 3 days later clinical signs of spinal cord compression appeared and epidural hematoma was diagnosed. Neurologic recovery was poor. CONCLUSIONS: This case highlights the need for careful individual preoperative analysis and postoperative observation to make anesthetic practice safe in patients receiving perioperative anticoagulant therapy.

[Accessory spleen: ultrasonographic and tomographic characteristics]. / Bazo accesorio: características ultrasonográficas y tomográficas.

The failure of fusion of splenic tissue results in the formation of accessory spleens. This entity normally appears in post-mortem examinations. The purpose of this work was to determine the incidence of the accessory spleen and to compare the ultrasonographic and tomographic features of the accessory spleen and the main spleen in a group of one thousand patients affected with several abdominal pathologies. Five hundred of these patients were studied by ultrasonography and five hundred patients by computed tomography. The ultrasonographic and tomographic features of the accessory and main spleen were similar. Its diagnosis is specially important in certain groups of patients with hematologic disease or abdominal trauma with splenic tear. This is due to the fact that the hypertrophy of the accessory spleen can produce a relapse of the disease.