Search results for "Case Report"
showing 10 items of 771 documents
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Salivary gland choristoma in the buccinator muscle: A case report and literature review
2015
Salivary gland choristoma (SGCh) is defined as the presence of normal salivary tissue in an abnormal location. It is a rare entity in oral and maxillofacial region and its ethiology is unknown. The typical presentation of salivary gland heterotopia is an asymptomatic mass that may or may not produce saliva. Some examples of ectopic salivary tissue in the pituitary gland, in the lymph nodes, in the middle ear, in the neck, in the jaw, in the thyroid gland, in the mediastinum and in the rectum have been documented in literature. We report the case of a 61-year-old male presented with a bilateral tumorlike mass in the cheek. The mass was painless, of fibrous consistency and had size change wit…
Alternative surgical management of oroantral fistula using auricular cartilage
2015
One of the clinical complications encountered by oral and maxillofacial surgeons is oroantral communication (OAC) with subsequent formation of oroantral fistula (OAF). Many techniques and treatment modalities have been described for the management of OAC and OAF. There are advantages and disadvantages of all these techniques. We report a 21-year-old male patient who was admitted to our department for the presence of an OAF and was treated using an auricular cartilage graft. This technique may be useful to treat OAF and to provide a solid alveolar bone site for subsequent pre-implant surgery. Key words:Auricular cartilage, implant surgery, oroantral fistula.
Autoimmune ear disease: clinical and diagnostic relevance in Cogan’s sydrome
2017
The autoimmune inner ear disease is a clinical syndrome with uncertain pathogenesis that is often associated to rapidly progressive hearing loss that, especially at the early stages of disease, may be at monoaural localization, although more often it is at binaural localization. It usually occurs as a sudden deafness, or a rapidly progressive sensorineural hearing loss. In this study a particular form of autoimmune inner ear disease is described, Cogan’s syndrome. Cogan’s syndrome is a chronic inflammatory disorder that most commonly affects young adults. Clinical hallmarks are interstitial keratitis, vestibular and auditory dysfunction. Associations between Cogan’s syndrome and systemic va…
Enterococcal meningitis caused by Enterococcus casseliflavus. First case report
2005
Abstract Background Enterococcal meningitis is an uncommon disease usually caused by Enterococcus faecalis and Enterococcus faecium and is associated with a high mortality rate. Enterococcus casseliflavus has been implicated in a wide variety of infections in humans, but never in meningitis. Case presentation A 77-year-old Italian female presented for evaluation of fever, stupor, diarrhea and vomiting of 3 days duration. There was no history of head injury nor of previous surgical procedures. She had been suffering from rheumatoid arthritis for 30 years, for which she was being treated with steroids and methotrexate. On admission, she was febrile, alert but not oriented to time and place. H…
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
Protocol for Low-level laser therapy in traumatic ulcer after troncular anesthesia: Case report in pediatric dentistry
2020
The aim of this study was to report a protocol of use for low-level laser therapy (LLLT) in traumatic ulcer in the lower lip after inferior alveolar nerve block anesthesia (IANBA). A 3-year-old patient, male, undergoing treatment of carious lesions was submitted to an indirect pulp capping in tooth 74 under IANBA. The procedure was completed without intercurrences, but on next day, the child presented extensive traumatic ulcer in the left lower lip, with complaint of pain. Two sequential applications with LLLT were applied in punctual mode under pressure around the lesion. After 1 week, the mother reported significant improvement. After 30 days, the lesion was fully healed. In conclusion, L…
Sustained low-efficiency dialysis (SLED) for acute lithium intoxication
2008
Acute lithium intoxication may cause serious neurologic and cardiac manifestations, up to the patient's death. Owing to its low molecular weight, relatively small volume of distribution close to that of total body water, and its negligible protein binding, lithium can be efficiently removed by any extracorporeal modality of renal replacement therapy (RRT). However, the shift from the intracellular to the extracellular compartment, with the inherent rebound phenomenon after the end of RRT, might limit the efficacy of the conventional, short-lasting haemodialysis. There have been no published studies up to now concerning the use of sustained low-efficiency dialysis (SLED) in lithium intoxicat…
Two episodes of Taravana syndrome in a breath-hold diver with hyperhomocysteinemia
2018
Key Clinical Message Taravana syndrome is a rare dysbaric disease characterized by neurologic signs and symptoms. Differently from others decompression illness, it has unspecified pathophysiology and unclear predisposing factors. Our cases suggest that thrombophilic state due to hyperhomocysteinemia could increase the risk to develop Taravana syndrome.
Closure of oroantral communication with buccal fat pad after removing bilateral failed zygomatic implants: a case report and 6-month follow-up
2015
The aim of this study was to assess the use of buccal fat pad (BFP) technique as an option to close oroantral communications (OAC) after removing failed zygomatic implants in a patient with a severely resorbed maxilla, and to determine the degree of patient satisfaction. A 64-year-old woman presented recurrent sinusitis and permanent oroantral communication caused by bilateral failed zygomatic implants, 3 years after prosthetic loading. Zygomatic implants were removed previous antibiotic treatment and the BFP flap technique was used to treat the OAC and maxillary defect. The degree of patient satisfaction after treatment was assessed through a visual analogue scale (VAS). At 6-months follow…