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A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention. [ABSTRACT FROM AUTHOR]

This article reports on a case presenting with a rare syndrome characterized by enamel dysplasia and multiple unerupted teeth with large solid fibrous pericoronal lesions manifesting with odontogenic fibroma-like features. Our case shows in addition to these findings an anterior open bite malocclusion and gingival overgrowths. These overgrowths exhibit the microscopic features of the multiple pericoronal odontogenic fibroma-like lesions that appear to be the hallmark of this syndrome. This unusual case brings the total number documented in the literature to 5, all of which were reported from South Africa. [ABSTRACT FROM AUTHOR]

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Abstract Myeloma is characterized by monoclonal bone marrow plasmacytosis, the presence of M-protein in serum and/or in urine and osteolytic bone lesions. HIV-seropositive subjects with myeloma are younger at the time of diagnosis of the tumour and usually the myeloma has a more aggressive clinical course than it does in HIV-seronegative subjects. A case of an HIV-seropositive woman in whom myeloma was diagnosed following progressive swelling of the face, is reported. In addition to bone marrow plasmacytosis and the presence of M-protein in the serum, the patient had an extramedullary lesion affecting the oral cavity, maxilla, parotid gland and paranasal sinuses, and extending intracranially and intraorbitally.

Background: 5' untranslated regions (5'UTRs) are essential modulators of protein translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional assays to evaluate 5'UTR variation in two large cohorts of patients with inherited retinal diseases (IRDs)., Methods: We performed an isoform-level re-analysis of retinal RNA-seq data to identify the protein-coding transcripts of 378 IRD genes with highest expression in retina. We evaluated the coverage of their 5'UTRs by different whole exome sequencing (WES) kits. The selected 5'UTRs were analyzed in whole genome sequencing (WGS) and WES data from IRD sub-cohorts from the 100,000 Genomes Project (n = 2397 WGS) and an in-house database (n = 1682 WES), respectively. Identified variants were annotated for 5'UTR-relevant features and classified into seven categories based on their predicted functional consequence. We developed a variant prioritization strategy by integrating population frequency, specific criteria for each category, and family and phenotypic data. A selection of candidate variants underwent functional validation using diverse approaches., Results: Isoform-level re-quantification of retinal gene expression revealed 76 IRD genes with a non-canonical retina-enriched isoform, of which 20 display a fully distinct 5'UTR compared to that of their canonical isoform. Depending on the probe design, 3-20% of IRD genes have 5'UTRs fully captured by WES. After analyzing these regions in both cohorts, we prioritized 11 (likely) pathogenic variants in 10 genes (ARL3, MERTK, NDP, NMNAT1, NPHP4, PAX6, PRPF31, PRPF4, RDH12, RD3), of which 7 were novel. Functional analyses further supported the pathogenicity of three variants. Mis-splicing was demonstrated for the PRPF31:c.-9+1G>T variant. The MERTK:c.-125G>A variant, overlapping a transcriptional start site, was shown to significantly reduce both luciferase mRNA levels and activity. The RDH12:c.-123C>T variant was found in cis with the hypomorphic RDH12:c.701G>A (p.Arg234His) variant in 11 patients. This 5'UTR variant, predicted to introduce an upstream open reading frame, was shown to result in reduced RDH12 protein but unaltered mRNA levels., Conclusions: This study demonstrates the importance of 5'UTR variants implicated in IRDs and provides a systematic approach for 5'UTR annotation and validation that is applicable to other inherited diseases., (© 2024. The Author(s).)

Pain induced by inflammation and nerve injury arises from abnormal neural activity of primary afferent nociceptors in response to tissue damage, which causes long-term elevation of the sensitivity and responsiveness of spinal cord neurons. Inflammatory pain typically resolves following resolution of inflammation; however, nerve injury-either peripheral or central-may cause persistent neuropathic pain, which frequently manifests as hyperalgesia or allodynia. Neuralgias, malignant metastatic bone disease, and diabetic neuropathy are some of the conditions associated with severe, often unremitting chronic pain that is both physically and psychologically debilitating or disabling. Therefore, optimal pain management for patients with chronic neuropathic pain requires a multimodal approach that comprises pharmacological and psychological interventions. Non-opioid analgesics (e.g., paracetamol, aspirin, or other non-steroidal anti-inflammatory drugs) are first-line agents used in the treatment of mild-to-moderate acute pain, while opioids of increasing potency are indicated for the treatment of persistent, moderate-to-severe inflammatory pain. N-methyl D-aspartate receptor antagonists, antidepressants, anticonvulsants, or a combination of these should be considered for the treatment of chronic neuropathic pain. This review discusses the various neural signals that mediate acute and chronic pain, as well as the general principles of pain management.

The generation of neuropathic pain is a complex dynamic process. Factors involved include one or more dysregulated sensory neural pathways; dysregulated activity of specific neurotransmitters, synapses, receptors and cognitive and emotional neural circuits; and the balance between degenerative and regenerative neural events. Risk factors include age, sex, cognition, emotions, genetic polymorphism, previous or ongoing chronic pain conditions and the use of certain drugs. Intense pain experienced before, during and after surgery is a risk factor for the development of central sensitization with consequent persistent postsurgery neuropathic pain. Blockade of N-methyl-D-aspartate receptors with appropriate drugs during and immediately after surgery may prevent persistent postsurgical pain. Most cancers, but particularly malignant metastases in bone, can induce persistent pain. Local factors including direct damage to sensory nerve fibres, infiltration of nerve roots by cancer cells and algogenic biological agents within the microenvironment of the tumour bring about central sensitization of dorsal horn neurons, characterized by neurochemical reorganization with persistent cancer pain. In this article, the clinical features, pathogenesis and principles of management of persistent postsurgery pain and cancer pain are briefly discussed.

Deficits in face processing have been described in the behavioral variant of fronto-temporal dementia (bvFTD), primarily regarding the recognition of facial expressions. Less is known about face shape and face identity processing. Here we used a hierarchical strategy targeting face shape and face identity recognition in bvFTD and matched healthy controls. Participants performed 3 psychophysical experiments targeting face shape detection (Experiment 1), unfamiliar face identity matching (Experiment 2), familiarity categorization and famous face-name matching (Experiment 3). The results revealed group differences only in Experiment 3, with a deficit in the bvFTD group for both familiarity categorization and famous face-name matching. Voxel-based morphometry regression analyses in the bvFTD group revealed an association between grey matter volume of the left ventral anterior temporal lobe and familiarity recognition, while face-name matching correlated with grey matter volume of the bilateral ventral anterior temporal lobes. Subsequently, we quantified familiarity-specific and name-specific recognition deficits as the sum of the celebrities of which respectively only the name or only the familiarity was accurately recognized. Both indices were associated with grey matter volume of the bilateral anterior temporal cortices. These findings extent previous results by documenting the involvement of the left anterior temporal lobe (ATL) in familiarity detection and the right ATL in name recognition deficits in fronto-temporal lobar degeneration.

Angioedema refers to a localized oedematous swelling of subcutaneous or submucosal tissues, caused by dilatation and increased permeability of blood vessels, usually mediated either by histamine or by bradykinin. Deficiency or loss of functional activity of the complement component C1 esterase inhibitor (C1-INH) affects multiple systems, including the kallikrein-kinin, complement, coagulation and fibrinolytic pathways, and in the context of angioedema, the result is increased production and release of bradykinin and other vasoactive substances such as C3a. Owing to impairment of C1-INH, factors Xlla and kallikrein, by a positive feedback mechanism, bring about persistent activation of the kallikrein-kinin pathway with amplification of production of bradykinin, resulting in angioedema. Histamine can cause histaminergic angioedema. As the name implies, this oedema is caused by degranulation of mast cells/basophils as a result of an IgE-dependant allergic reaction to extracts of food, drugs, infectious agents, or to physical stimulation; or as the result of direct degranulation of mast cells/basophils independently of IgE, caused by releasing agents such as opiates, antibiotics or radiocontrast media. As dental, oral and maxillofacial operative procedures may trigger the development of angioederria in susceptible individuals, the dental practitioner should be familiar with its

Osseointegration of titanium implants is a complex biological process involving interactions between immuno-inflammatory responses, angiogenesis and osteogenesis, all of which are influenced by the physical and chemical characteristics of the implant surface. An implant surface with moderately rough topography and high surface energy influences cellular activities, enhancing peri-implant bone wound healing. Primary mechanical stability of the implant is essential for osseointegration. In this article we review some of the more important biological events of peri-implant bone wound healing in the process of osseointegration, and discuss how the biophysical properties of implant surfaces influence cellular responses.

Ridge preservation procedures immediately after tooth extraction, are commonly used with a view to minimising remodelling and shrinkage of the alveolar ridge, associated with socket healing. These procedures may sometimes be effective, but they cannot completely prevent reduction in dimension of the ridge. Certain biomater als used may actually hamper normal deposition of bone within the healing socket, reducing bone trabeculae that can integrate with the implant surface. However, in extraction sockets in alveolar ridges of low bone density, particles of implanted bone substitute incorporated in the healing bone, may enhance the mechanical support for the implant, provided by normal healed bone of low trabecular density alone. This paper reviews biological rationales and procedures for ridge preservation immediately after extraction and comments on their clinical use.

The authors present a method of gaining access to the temporomandibular joint that improves visibility and surgical access. It should reduce operating times and improve results., (Copyright © 2010 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Bisphosphonates are agents commonly used in the treatment of osteoporosis, and in the management of metastatic bone disease, and of hypercalcaemia of malignancy. Any oral surgical procedure or traumatic event exposing bone to bacterial infection may precipitate osteonecrosis of the jaw in subjects who have been treated with bisphosphonates which suppress bone turnover and inhibit the angiogenesis associated with healing. New guidelines for the treatment of bisphosphonate-related osteonecrosis of the jaw are emerging, but hitherto treatment has been empirically conservative.

The adenomatoid odontogenic tumour (AOT) is a benign lesion of odontogenic origin. It is a slow growing tumour that results in a painless expansion of the jaws. This is a retrospective review of the demographic, clinical and radiographic features of AOTs diagnosed in a black South African population over 20 years. Of the 746 odontogenic tumours diagnosed, 4% were AOTs. The patients' ages ranged from 9 to 37 years with a mean age of 15 years. The highest incidence was in the second decade of life (85%). The female to male ratio was 5.6:1. The maxilla was more commonly affected than the mandible in a ratio of 1.5:1. The sizes of the lesions ranged from 2 to 7cm, with 60% involving an entire quadrant. All were of the central follicular type and appeared as well-demarcated radiolucent lesions. The canine was the most common impacted tooth. The treatment of choice was enucleation of the lesion, with no recurrences being reported., (Copyright © 2010 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Cancer is the outcome of a complex multifactorial process of cytogenetic and epigenetic changes that affect cell cycle progression, apoptosis, DNA repair mechanisms and cell differentiation. Cancer cells have the capacity to evade the immune system, to invade tissues and to metastasize. Cancer is treated by surgery, chemotherapy and radiotherapy, each as single treatment modalities or more often in combination. Failure of treatment to cure a patient of cancer may be owing to the fact that radiotherapy and chemotherapy can eradicate transit-amplifying cells which are characterized by uncontrolled proliferation and prolonged survival; but cannot eradicate all cancer stem cells that divide slowly, have a relatively unlimited self-renewal capacity and express anti-apoptotic genes; and also owing to the fact that surgery cannot always eliminate occult fields of pre-cancerization.

Despite the proven benefits of thrombolysis for patients presenting with acute ischemic stroke, only a limited number of patients receive thrombolytic therapy. The reason for the low treatment rate is that thrombolysis is only effective a few hours after the onset of ischemic stroke, so delays in patients being admitted to hospital and being diagnosed mean that the therapeutic window is often missed. Major factors that lead to prehospital delay include the general public's lack of knowledge of stroke symptoms and their poor understanding of the appropriate course of action following a stroke. Indeed, the patients who arrive early in hospital tend to be those who recognize the symptoms of stroke and take them seriously. Deficiencies in the identification of stroke by emergency medical services and general practitioners also contribute to prehospital delay. Aggressive, combined educational programs aimed at the general public, general practitioners, and medical and paramedical hospital staff can lead to increased stroke treatment rates. In this Review, we explore the extent of prehospital delay in stroke, identify the factors that affect the time taken for patients to reach hospital, and describe strategies designed to reduce the delay.

Osteosarcoma of the jaws accounts for 6-13% of all osteosarcomata. If not diagnosed early, it spreads extensively through the jaw and contiguous soft tissues into the nasal cavity, the maxillary sinus, the orbit and the infratemporal fossa, and may invade the oral soft tissues. A clinical finding of tooth displacement and tooth mobility associated with radiolucency/radiopacity should alert the practitioner to the possibility of osteosarcoma or some other malignancy.

Myeloma is characterized by monoclonal bone marrow plasmacytosis, the presence of M-protein in serum and/or in urine and osteolytic bone lesions. HIV-seropositive subjects with myeloma are younger at the time of diagnosis of the tumour and usually the myeloma has a more aggressive clinical course than it does in HIV-seronegative subjects. A case of an HIV-seropositive woman in whom myeloma was diagnosed following progressive swelling of the face, is reported. In addition to bone marrow plasmacytosis and the presence of M-protein in the serum, the patient had an extramedullary lesion affecting the oral cavity, maxilla, parotid gland and paranasal sinuses, and extending intracranially and intraorbitally.

Dry sockets, or alveolar osteitis, is one of the most common postoperative complications following the extraction of teeth. For the patient this is often a very painful and distressing condition. Most dental practitioners will experience this complication at some or other stage of their career. The aetiology of dry socket is multifactorial with several predisposing factors having been identified. The aims of this study were to assess the incidence of dry sockets at the Medunsa Oral Health Centre, to assess the demographic details of these patients and to explore the predisposing factors for the development of dry socket. It is hoped that this will help to minimize or prevent this condition from occurring. This was a prospective study conducted over an eight-month period in the Department of Maxillofacial and Oral Surgery, University of Limpopo, Medunsa Campus. The data was collected by means of a structured questionnaire. Of the 4077 patients that presented for dental extractions, 2% (79) developed a dry socket. The ages of the patients ranged from 12-79 years with a mean age of 35 years. There was a slight female preponderance (1.5:1). The mandibular second molar was the most common site to be affected (22%). Pain was the most common presenting symptom. Underlying systemic conditions were found in 19% of the patients, while 25% smoked, consumed alcohol or both. Identifying risk factors, attention to procedural details and patient education were found to be important in the prevention of dry socket.

This article documents an additional case of a rare syndrome, reported only in black persons in South Africa. It is characterised by hamartomatous atypical follicular hyperplasia with central odontogenic fibroma (WHO-type)-like features attached to multiple impacted teeth, and with generalized enamel dysplasia showing features of hypoplastic amelogenesis imperfecta. Other features associated with the syndrome, but not present in all reported cases, include open-bite malocclusion, gingival overgrowth, hypodontia, pulpal calcifications and aberrant root formation of the unerupted teeth. Our present case shows the additional feature of impacted supernumerary teeth. As we cannot find any reports in the literature of the occurrence of amelogenesis imperfecta-like enamel dysplasia associated with hamartomatous follicular hyperplasia showing the features of WHO-type central odontogenic fibroma, with or without the additional features mentioned above, we propose to name this syndrome Enamel Dysplasia with Hamartomatous atypical Follicular Hyperplasia (EDHFH) syndrome.

Background: Kaposi sarcoma (KS) is the most common human immunodeficiency virus (HIV)-associated neoplasm (HIV-KS). Highly active antiretroviral therapy (HAART) results in a decrease in the incidence and prevalence of HIV-KS as well as in clinical improvement. However, in a subset of subjects who are HIV seropositive, KS may recrudesce early following the introduction of HAART as an immune reconstitution inflammatory syndrome (IRIS)., Methods: The management of a patient who is HIV seropositive with rapid clinical worsening of oral KS lesions shortly after the initiation of HAART was documented. Repeated serologic testing for CD4(+) T-cell count and microscopic examination of two biopsy specimens of the oral lesion, one taken before and the other taken after cytotoxic chemotherapy, followed by surgical excision was the treatment modality used., Results: Microscopic examination of the incisional biopsy specimen taken from the oral lesion at the time of the initial consultation confirmed the clinical diagnosis of KS. The sequential serological tests showed a progressive increase in CD4(+) T-cell counts that paralleled the rapid clinical worsening of the KS disease. This was consistent with the diagnosis of IRIS-associated HIV-KS. Subsequent cytotoxic chemotherapy brought about resolution of the IRIS and regression of the HIV-KS lesions. Microscopic examination of a biopsy specimen obtained after cytotoxic chemotherapy did not show any of the original KS. The residual palatal exophytic mass was excised., Conclusions: IRIS-associated HIV-KS is not a disease, but rather a temporary paradoxical immunoinflammatory reaction brought about by improvement in immune status following HAART. IRIS-associated HIV-KS can be controlled effectively by limited systemic cytotoxic chemotherapy in the setting of HAART.

Acute myeloid leukaemia (AML), characterized by proliferation of immature neoplastic myeloid cells, is uncommon in childhood. We present a case of an 8-year-old girl with AML-M4Eo who had an extramedullary leukaemic tumour in the oral cavity.

Orbital abscess is a rare complication of odontogenic infection. This report describes a case of an orbital abscess in a 42-year-old HIV-seropositive woman who developed this condition as a complication by direct spread via the maxillary sinus of a dento-alveolar abscess of the maxillary first premolar, resulting in the loss of her eye.

Diffuse infiltrative lymphocytosis syndrome (DILS) is an uncommon manifestation of HIV infection characterised by persistent circulating CD8+ lymphocytosis accompanied by visceral lymphocytic infiltration. The lungs and the salivary glands are the most common organs involved. Parotid enlargement in HIV-seropositive subjects may represent HIV-associated lymphoepithelial lesions, hyperplastic lymphadenopathy, lymphoma, bacterial and viral infections, Sjögren's syndrome and DILS. Therefore confirmatory histopathological diagnosis and immunohistochemical analysis following a biopsy is essential to determine the exact nature of the salivary gland enlargement. A review of the literature of DILS and a description of a typical case of bilateral cystic lymphoepithelial lesions of the parotid glands, in an HIV-seropositive subject with DILS, is presented.

A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention.

Post-herpetic neuralgia (PHN) is the most frequent complication of herpes zoster and often results in significant morbidity and a reduction in the patient's quality of life. The peripheral nerve injury that occurs during the acute phase of herpes zoster (HZ) leads to an abnormal tonic impulse discharge from primary nociceptive afferent neurons which induce slow temporal summation. This "wind-up" phenomenon is responsible for continuous partial depolarisation of second-order neurons with increased spontaneous impulse discharge and expanded receptive fields within the dorsal horn nociceptive neurons. The abnormal central processing involves the activation of N-methyl-D-aspartate (NMDA) receptors resulting in neuropathic pain, characterized by spontaneous pain, hyperalgesia and allodynia which is typical of PHN. In addition, tonic input from non-nociceptive AB afferent neurons, maintained by sympathetic efferent activity, contribute to the development and maintenance of neuropathic pain in general, and a burning sensation in particular.

Human immunodeficiency virus/tuberculosis (HIV/TB) co-infected subjects demonstrate enhanced HIV replication and plasma viremia; CD4+ T-cell depletion; morbidity and mortality; and susceptibility to secondary bacterial and fungal infections compared to subjects solely infected with HIV. As the incidence of HIV/TB infection has been increasing, one would have expected to encounter oral lesions of tuberculosis more frequently. However, such oral lesions are uncommon. The lesions usually occur as ulcerations of the tongue. We report an additional case in an HIV/TB co-infected 39 year-old black male, who presented with chronic, painless, multiple oral ulcers, occurring simultaneously on the tongue, bilaterally on the palate and mucosa of the alveolar ridge. Microscopic examination confirmed the presence of chronic necrotizing granulomatous inflammation, with the identification of acid fast bacilli in the affected oral mucosal tissue. Anti-retroviral and anti-tuberculous treatment resulted in the resolution of the oral lesions. Confirmatory histopathological diagnosis following a biopsy is essential to determine the exact nature of chronic oral ulceration in an HIV individual and especially to distinguish between oral squamous cell carcimoma, lymphoma, infection (bacterial or fungal) and non-specific or aphthous type ulceration.

Melanotic neuroectodermal tumor of infancy is a rare neoplasm of possibly neural crest origin, and it predominantly occurs in the premaxillas of infants less than 12 months old. Generally, the treatment of this benign pigmented lesion is conservative surgical excision. Long-term follow-up is imperative inasmuch as local recurrence and malignant transformation have been reported. A case with exceptional clinical features involving a 7-month-old child is presented.