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Haemophilia A (HA) and haemophilia B (HB) are X-linked inherited bleeding disorders caused by the absence or deficiency of coagulation factors VIII (FVIII) and IX (FIX), respectively. Recent advances in the development of effective treatments for haemophilia have led to a significant increase in life expectancy. As a result, the incidence of some comorbidities, including fragility fractures, has increased in people with haemophilia (PWH). The aim of our research was to perform a review of the literature investigating the pathogenesis and multidisciplinary management of fractures in PWH. The PubMed, Scopus and Cochrane Library databases were searched to identify original research articles, meta-analyses, and scientific reviews on fragility fractures in PWH. The mechanism underlying bone loss in PWH is multifactorial and includes recurrent joint bleeding, reduced physical activity with consequent reduction in mechanical load, nutritional deficiencies (particularly vitamin D), and FVIII and FIX deficiency. Pharmacological treatment of fractures in PWH includes antiresorptive, anabolic and dual action drugs. When conservative management is not possible, surgery is the preferred option, particularly in severe arthropathy, and rehabilitation is a key component in restoring function and maintaining mobility. Appropriate multidisciplinary fracture management and an adapted and tailored rehabilitation pathway are essential to improve the quality of life of PWH and prevent long-term complications. Further clinical trials are needed to improve the management of fractures in PWH.
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Fraturas Ósseas , Hemofilia A , Hemofilia B , Humanos , Hemofilia A/complicações , Hemofilia A/terapia , Qualidade de Vida , Hemorragia/etiologia , Hemofilia B/complicações , Hemofilia B/terapia , Fraturas Ósseas/complicaçõesRESUMO
Facial nerve palsy is a clinical diagnosis differentiating between central upper motor neuron lesions and peripheral lower motor neuron lesions. Rehabilitation is an important issue in peripheral facial nerve palsy management. In this article, we present the case of an adult woman affected by right peripheral facial nerve palsy due to acoustic neuroma surgical excision. She immediately started a rehabilitation plan, but it was stopped due to COVID-19 lockdown and did not resume because of the fear of contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Therefore, we planned to treat her palsy with remote neurocognitive rehabilitation. After 10 months of treatment, the patient underwent a follow-up physiatric assessment, confirming right facial palsy improvement. There was a slight nasolabial groove flattening and slight left oral rime deviation while smiling (House-Brackmann classification improved from Grade IV to III). Telerehabilitation represents a valid strategy for neurocognitive rehabilitation, not only in a pandemic scenario, but also in other conditions that lead to social distancing.
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INTRODUCTION: Hip fractures are one of the major disability causes associated with a high morbidity and mortality rate. Early surgery and stable fixation could be associated with better pain control, possibly lower mortality rates, and early recovery of autonomy.
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Artroplastia de Quadril , Fraturas do Quadril , Medicina , Humanos , Estudos Retrospectivos , Fraturas do Quadril/cirurgia , Fixação de Fratura , Artroplastia de Quadril/reabilitação , Resultado do TratamentoAssuntos
Tumor Adenomatoide/diagnóstico , Hamartoma/diagnóstico , Carcinoma Nasofaríngeo/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Neoplasias dos Seios Paranasais/diagnóstico , Tumor Adenomatoide/patologia , Tumor Adenomatoide/terapia , Idoso , Diagnóstico Diferencial , Endoscopia , Feminino , Hamartoma/patologia , Hamartoma/terapia , Humanos , Imageamento por Ressonância Magnética , Masculino , Ilustração Médica , Mucosa Nasal/diagnóstico por imagem , Mucosa Nasal/patologia , Carcinoma Nasofaríngeo/patologia , Carcinoma Nasofaríngeo/terapia , Neoplasias Nasofaríngeas/patologia , Neoplasias Nasofaríngeas/terapia , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/terapia , Tomografia Computadorizada por Raios XRESUMO
Maxillary sinusitis can represent a rare complication of dental implants of endodontic materials impinging in the maxillary sinuses. The effects of anatomical variants of paranasal sinuses on pathophysiological and clinical manifestations of dental sinusitis are poorly understood. Herein, we present a case of dislocation of a dental implant in the ethmoidal sinus in a 63-years old man with bilateral accessory maxillary orifice. This anatomical variation, by providing an additional way for the drainage of mucus in the maxillary sinus, could have allowed the dislocation of the implant in the ethmoidal sinus without causing mucus stagnation and consequent sinusitis, leading to a unusual clinical presentation. .
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INTRODUCTION: Radiotherapy is a valid treatment option for nasopharyngeal carcinoma. However, complications can occur following irradiation of the closest anatomical structures, including brainstem radionecrosis (BRN). The rehabilitation is poorly described in patients with BRN, despite its usefulness in improving functional independence in patients with brain tumors. We aimed at testing the usefulness of intensive, robot-assisted neurorehabilitation program to improve functional independence in a 57-year-old male with BRN. PATIENT CONCERNS: A 57-year-old male diagnosed with a nasopharyngeal carcinoma, received a radiation total dose of 72 Gy. Owing to the appearance of a severe symptomatology characterized by dysphagia, hearing loss, and left sided hemiparesis, the patient was hospitalized to be provided with intensive pharmacological and neurorehabilitation treatment. DIAGNOSIS: Follow-up brain magnetic resonance imaging disclosed no residual cancer, but some brainstem lesions compatible with BRN areas were appreciable. INTERVENTION: The patient underwent a 2-month conventional, respiratory, and speech therapy. Given that the patient only mildly improved, he was provided with intensive robot-aided upper limb and gait training and virtual reality-based cognitive rehabilitation for other 2 months. OUTCOMES: The patient reported a significant improvement in functional independence, spasticity, cognitive impairment degree, and balance. CONCLUSION: Our case suggests the usefulness of neurorobotic intensive rehabilitation in BRN to reduce functional disability. Future studies should investigate whether an earlier, even multidisciplinary rehabilitative treatment could lead to better functional outcome in patients with BRN.
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Tronco Encefálico/lesões , Terapia por Exercício , Neoplasias Nasofaríngeas/radioterapia , Lesões por Radiação/reabilitação , Robótica , Tronco Encefálico/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Paresia/reabilitação , Lesões por Radiação/diagnóstico por imagemRESUMO
Abstract Introduction The clinical relevance of the anatomy and variations of the anterior ethmoidal artery (AEA) is outstanding, considering its role as a landmark in endoscopic surgery, its importance in the therapy of epistaxis, and the high risks related to iatrogenic injuries. Objective To provide an anatomical description of the course and relationships of the AEA, based on direct computed-tomography (CT)-based 3D volume rendering. Methods Direct volume rendering was performed on 18 subjects who underwent (CT) with contrast medium for suspected cerebral aneurism. Results The topographical location of 36 AEAs was assessed as shown: 10 dehiscent (27.8%), 20 intracanal (55.5%), 6 incomplete canals (16.7%). Distances from important topographic landmarks are reported. Conclusion This work demonstrates that direct 3D volume rendering is a valid imaging technique for a detailed description of the anterior ethmoidal artery thus representing a useful tool for head pre-operatory assessments.
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Artérias/anatomia & histologia , Artérias/diagnóstico por imagem , Seio Etmoidal/irrigação sanguínea , Seio Etmoidal/diagnóstico por imagem , Tomografia Computadorizada Multidetectores/métodos , Tomografia Computadorizada por Raios X/métodos , Aneurisma Intracraniano/diagnóstico por imagem , Estudos Retrospectivos , Base do Crânio/anatomia & histologia , Base do Crânio/irrigação sanguínea , Base do Crânio/diagnóstico por imagem , Meios de Contraste , Imageamento TridimensionalRESUMO
Introduction The clinical relevance of the anatomy and variations of the anterior ethmoidal artery (AEA) is outstanding, considering its role as a landmark in endoscopic surgery, its importance in the therapy of epistaxis, and the high risks related to iatrogenic injuries. Objective To provide an anatomical description of the course and relationships of the AEA, based on direct computed-tomography (CT)-based 3D volume rendering. Methods Direct volume rendering was performed on 18 subjects who underwent (CT) with contrast medium for suspected cerebral aneurism. Results The topographical location of 36 AEAs was assessed as shown: 10 dehiscent (27.8%), 20 intracanal (55.5%), 6 incomplete canals (16.7%). Distances from important topographic landmarks are reported. Conclusion This work demonstrates that direct 3D volume rendering is a valid imaging technique for a detailed description of the anterior ethmoidal artery thus representing a useful tool for head pre-operatory assessments.
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Background: Mild cognitive impairment (MCI) is characterized by cognition impairment that does not interfere with the usual activities of daily living. It is considered to be a transitional stage between normal aging and dementia. No treatment is available for MCI. Methods: This retrospective cohort study included 55 patients (29 males and 26 females, aged 56-75 years) with a diagnosis of amnestic MCI who attended the Center for Cognitive Disorder and Dementia of the IRCCS Centro Neurolesi Bonino Pulejo (Messina, Italy) between January and December of 2017. As we aimed to evaluate the effect of cocoa polyphenols on cognition, the study population was separated into two groups depending on the change in their Mini-Mental State Examination (MMSE) score at a one-year follow-up. Results: Compared to G2 (i.e., patients with a worsening in cognitive functions), the rate of polyphenol intake was significantly higher in patients without a worsening in cognition (i.e., G1) (χ2 = 13.79, df = 1, p-value < 0.001). By subdividing G1 patients based on whether they improved or were stable at follow-up, we found that 46.2% of those who had improved were treated with polyphenols. Conclusions: Dietary supplementation of cocoa flavonoids seems to reduce the progression of MCI to dementia. Further prospective studies with larger sample volumes are required to confirm these promising findings.
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Chocolate , Disfunção Cognitiva/tratamento farmacológico , Polifenóis/uso terapêutico , Idoso , Estudos de Coortes , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Prospectivos , Estudos Retrospectivos , Fatores de RiscoRESUMO
RATIONALE: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a cytosine, guanine, thymine (CTG) trinucleotide repeat expansion in the non-coding region of dystrophia myotonica protein kinase gene, causing a multisystem involvement. To date, few studies have been performed to evaluate skin features in DM1 patients, but none reported on the possible association between the disease and tongue hemangiomas. PATIENTS CONCERNS: We report a case of a 63-year-old woman affected by DM1 and presenting, at the intraoral examination, several swelling and buish lesions occurring on buccal and palatal mucosa, and in the anterior two-thirds and margins of the tongue. DIAGNOSIS: Multiple tongue hemangiomas in DM1 patient. INTERVENTIONS: Color Doppler ultrasound revealed hypoechoic lesions with intermittent color picking suggestive of vascular lesion. Surgical excision was performed under general anesthesia. Histopathological examination was compatible with the diagnosis of cavernous hemangiomas. OUTCOMES: At 6 months follow-up, a part from the cosmetic deformity, patient's hemangiomas did not bleed, but caused functional problems with speaking, mastication, and deglutition, in addition to the same symptoms induced by DM1. LESSONS: This case may add new details to better characterize the DM1 phenotype, suggesting that even tongue hemangiomas may be part of the DM1 multisystem involvement.
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Hemangioma Cavernoso/etiologia , Neoplasias Bucais/etiologia , Distrofia Miotônica/complicações , Neoplasias da Língua/etiologia , Feminino , Hemangioma Cavernoso/patologia , Humanos , Pessoa de Meia-Idade , Boca/patologia , Língua/patologia , Neoplasias da Língua/patologiaRESUMO
RATIONALE: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative multisystem disorder, presenting with limb or bulbar onset. To date, there is no cure for ALS. At some stage of the disease, patients may complain of breathlessness due to respiratory failure, thus needing a noninvasive mechanical ventilation (NIMV) support. However, breathlessness is a symptom that may be induced by different causes that must be taken into consideration in ALS management. PATIENTS CONCERNS: We report the case of an 81-year-old man, with a spinal onset ALS, who was admitted to our clinic to start NIMV because of respiratory involvement. After 3 weeks from NIMV performed at night time, with beneficial effects, he suddenly complained of breathlessness even at rest and in standing position. DIAGNOSIS: Respiratory and cardiac assessments did not show new clinical events, indicating the worsening respiratory function. Due to a history of osteoporosis which was treated with biphosphonates and even though no previous bone trauma or falls were reported, we performed a spine computed tomography scan. The findings indicated multiple dorsal vertebral fractures which was a probable cause for breathlessness. INTERVENTIONS AND OUTCOMES: Considering the neurodegenerative disease associated to respiratory failure, the cardiovascular risk factors and the age, the patient refused to undergo a surgery with kyphoplasty. A spine support was then prescribed, together with analgesic medications, with significant alleviation of pain and breathlessness. LESSONS: The occurrence of breathlessness in a patient with ALS cannot always be related to the bulbar involvement. Other causes should be taken into account, especially when there is sudden worsening of symptoms in spite of good clinical response and compliance to NIMV treatment.
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Esclerose Lateral Amiotrófica/complicações , Dispneia/etiologia , Osteoporose/complicações , Insuficiência Respiratória/etiologia , Idoso de 80 Anos ou mais , Progressão da Doença , Humanos , MasculinoRESUMO
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiology of sALS remains unclear although a gene-environment interaction has been proposed as a concomitant trigger for the neurodegenerative process together with viral infections, smoking, heavy metals and pesticide exposure. Herein, we report the case of a 67-year-old woman who experienced an acute onset of bulbar ALS with an atypical clinical course that was probably triggered by a bout of influenza.
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Esclerose Lateral Amiotrófica/diagnóstico , Influenza Humana/complicações , Doença Aguda , Idoso , Esclerose Lateral Amiotrófica/etiologia , Diagnóstico Diferencial , Feminino , HumanosRESUMO
RATIONALE: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert-Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids. PATIENT CONCERNS: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (QMG) and activities of daily living scales, and autonomic nervous system involvement evaluation. OUTCOMES: Five out of 7 patients presented a clinical improvement persisting at last 5-year follow-up; 2 out of them improved taking only 3,4-DAPP at the maximal dosage, whereas the remaining received concomitant medications, such as prednisone and azathioprine. However, the clinical amelioration was not statistically significant. No one of the patients reported severe adverse events, except one, complaining of transient chin and perioral paresthesias. A significant association between QMG and the type of pharmacological drugs therapy (Pâ=â.028) emerged. Indeed, we observed an improvement of the clinical condition in all 3 subjects treated with 3,4-DAPP and prednisone. CONCLUSIONS: In this study, we confirm 3,4-DAPP treatment efficacy on muscle strength, but minor evidence of drug effectiveness have been demonstrated on the autonomic nervous system involvement and on the deep tendon reflexes reappearance, a part from patients who received 3,4-DAPP associated to prednisone.
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4-Aminopiridina/análogos & derivados , Imunossupressores/administração & dosagem , Síndrome Miastênica de Lambert-Eaton/tratamento farmacológico , Prednisona/administração & dosagem , 4-Aminopiridina/administração & dosagem , Atividades Cotidianas , Adulto , Amifampridina , Azatioprina/administração & dosagem , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Força Muscular/efeitos dos fármacos , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. RESULTS: Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. CONCLUSIONS: Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.