Facial

Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1-2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who were classified into seven phenotype subgroups. The phenotype and genomic data of patients with DD/ID were further retrospectively analyzed...

BACKGROUND: The preoperative diagnosis of salivary gland cancer (SGC) is crucial for the application of appropriate treatment, particularly involving the extension of the resection. METHODS: Retrospective search of medical database identified 116 patients treated surgically with malignant tumors of salivary gland between 2010 and 2020. Analysis included the demographical data, clinical course, type of surgical and adjuvant treatment, histology type and margin status, perivascular invasion (LVI), perineural invasion (PNI), metastatic lymph nodes (LN)...

The visual appeal of teeth and smiles significantly influences both how others perceive individuals and their self-image and confidence. The subjective nature of dental esthetics, varying greatly among patients and dental professionals, has made digital smile design tools essential for creating natural and personalized esthetics. Contemporary digital methods and workflows encompass all clinical phases, from diagnosis to the creation of a smile aligned with the patient's facial features, and the completion of the restoratives...

A man in his 30s presented to the emergency department with a history of injury to the face with a crowbar. He was discharged from the department, in the absence of any facial bone fractures and given normal examination findings, except for a puncture wound on the mentum. The patient then re-presented within 24 hours with extensive cervical emphysema extending into the mediastinal cavity.He was referred to ear, nose and throat team for further management. CT scan of the chest and neck showed extensive surgical emphysema and a pneumomediastinum...

Acne is a common chronic inflammatory disease of the pilosebaceous unit. Transient receptor potential vanilloid 3 (TRPV3) is an ion channel that is involved in inflammatory dermatosis development. However, the involvement of TRPV3 in acne-related inflammation remains unclear. Here, we used acne-like mice and human sebocytes to examine the role of TRPV3 in the development of acne. We found that TRPV3 expression increased in the skin lesions of Propionibacterium acnes (P. acnes)-injected acne-like mice and the facial sebaceous glands (SGs) of acne patients...

No abstract text is available yet for this article.

This article discusses the psychological effects of facial palsy (FP) in adults. FP is the abnormal functioning of facial muscles resulting from temporary or permanent damage of the facial nerves. Following facial paralysis, patients can develop motor and psychosocial functioning issues impacting quality of life. In addition, real or perceived judgment in social settings of those with FP increases the risk of low self-esteem, anxiety, and depression. Currently, most available research focuses on surgical patients and suggests a lack of psychological support throughout the affliction...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Objective: To compare subdorsal strip excisions in patients undergoing dorsal preservation (DP) rhinoplasty using patient-related outcome measures (PROMS). Methods: Patients were treated from 2020 to 2022 using the modified subdorsal strip method (MSSM) or Z flap approach. A two-sample t -test determined whether there was a difference in functional and aesthetic scores using the NOSE, Sinonasal Outcome Test (SNOT-22), SCHNOS, and ESS scales. Results: Seventy-one primary rhinoplasty patients met inclusion criteria at 12 months with an average age of 23 years (62 female, 9 male), with 35 (49%) undergoing the MSSM technique, while 36 (51%) receiving the Z flap...

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities...

OBJECTIVES: To report and analyze the pattern of maxillofacial injuries in trauma victims and to define the role of a maxillofacial surgeon in an emergency trauma care team. MATERIALS AND METHODS: Trauma patients reported and reporting to the casualty of a tertiaryhospital with facial injuries and other suspected concomitant injuries in the body were included in this study. The complete medical and radiographic records of each patient were reviewed and data was collected in a standard proforma in this 5-year clinical study (3 year of retrospective and 2 year of prospective study)...

OBJECTIVE: To assess the differences in scar outcomes between modified rotation-advancement techniques proposed by Drs. Mohler and Noordhoff, designed to address issues such as inadequate vertical lip length and scarring on the upper third of the lip in the original rotation-advancement technique. DESIGN: Retrospective single-surgeon (RD) study. PATIENTS: Consecutive non-syndromic children ( n  = 68) with unilateral complete cleft lip and palate...

Retrobulbar haematoma is a rare emergency that can potentially lead to blindness. Common causes include facial trauma and surgery. Timely surgical evacuation of the haematoma improves visual outcomes. In rural communities, patients often present to hospital after many hours and this increases the risk of poor visual outcomes. Radiological evaluation which is often not available in rural communities, results in further delay in surgical treatment. This case report highlights the need for urgent surgical intervention over radiological evaluation in patients with retrobulbar haematoma and orbital compartment syndrome...

A rise in the disinfection of spaces occurred as a result of the COVID-19 pandemic as well as an increase in people wearing facial coverings. Hydrogen peroxide was among the recommended disinfectants for use against the virus. Previous studies have investigated the emissions of hydrogen peroxide associated with the disinfection of spaces and masks; however, those studies did not focus on the emitted byproducts from these processes. Here, we simulate the disinfection of an indoor space with H2 O2 while a person wearing a face mask is present in the space by using an environmental chamber with a thermal manikin wearing a face mask over its breathing zone...

No abstract text is available yet for this article.

Gradenigo's syndrome (GS) is a rare entity characterized by otitis media, pain in the trigeminal nerve distribution and abducens nerve palsy. The classic triad is uncommon, making the diagnostic workup challenging. Specifically, the diagnostic approach includes medical history, a complete otorhinolaryngological examination, a pure-tone audiogram and radiological investigation such as contrast-enhanced computed tomography scan and magnetic resonance imaging of head and neck. Broad-spectrum antibiotics are the first-line treatment, such as intravenous (IV) ceftriaxone and IV metronidazole...

Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors...

Systemic lupus erythematosus (SLE) is a remitting-relapsing systemic autoantibody and immune complex disease with a similar clinical presentation to that of malignancy and infection. The authors report a case of newly diagnosed SLE and lupus nephritis in a 48-year-old woman with constitutional symptoms and unintentional weight loss. Her presentation was further complicated by pericardial effusion and methicillin-resistant Staphylococcus aureus (MRSA) facial cellulitis and bacteremia. In the context of nonspecific symptoms and a wide initial differential diagnosis, the early consideration of rheumatologic etiologies and the involvement of consultant services led to appropriate diagnostic testing and a timely diagnosis...