27 research outputs found

    Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series

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    Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with defective cytotoxic function. The age at onset is usually young and the natural course is rapidly fatal if untreated. A later onset of the disease has been sporadically reported even in adolescents and adults. We report the results of our retrospective data collection of all cases diagnosed with FHL at an age of 18 years or older and enrolled in the Italian Registry of HLH. All cases were diagnosed with FHL based on evidence of genetic defect in one FHL-related gene. A total of 11 patients were diagnosed with FHL. They were 9 males and 2 females, from 10 unrelated families; their age ranged between 18 and 43 years (median, 23 years). Family history was unremarkable in eight families at the time of the diagnosis. Their genetic diagnoses are: FHL2 (n = 6), FHL3 (n = 2), FHL5 (n = 1), XLP1 (n = 2). Clinical, molecular and functional data are described. These data confirm that FHL may present beyond the pediatric age and up to the fifth decade. FHL2 due to perforin defect is the most frequently reported subtype. Adult specialists should consider FHL in the differential diagnosis of patients with cytopenia and liver or central nervous system disorders, especially when a lymphoproliferative disease is suspected but eventually not confirmed. FHL may turn to be fatal within a short time course even in adults. This risk, together with the continuous improvement in the transplant technique, especially in the area of transplant from matched unrelated donor, resulting in reduced treatment related mortality, might suggest a wider use of SCT in this population. Current diagnostic approach allows prompt identification of patients by flow-cytometry screening, then confirmed by the genetic study, and treatment with chemo-immunotherapy followed by stem cell transplantation

    How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

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    COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p < 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p < 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p < 0.0001) or urgent (20.4% vs. 38.5%; p < 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p < 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

    A case of severe obstructive sleep apnoea in Madelung's disease treated by lateral pharyngoplasty

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    Background: Madelung's disease is a rare disorder characterised by the presence of multiple, symmetric, non-capsulated fat masses in the face, neck and other areas of upper extremities. In some cases, severe clinical complications such as upper airway compression can occur. Case report: A 56-year-old man affected by Madelung's disease complained of snoring and severe daytime sleepiness. Polysomnography revealed severe obstructive sleep apnoea. An attempt to treat sleep apnoea by continuous positive airway pressure failed because of poor compliance. Functional expansion pharyngoplasty was carried out as an initial treatment. Marked improvement of neck movements and normalisation of somnographic parameters were observed at six months' follow up. Conclusion: Patients with Madelung's disease should be examined carefully for potential obstructive sleep apnoea. Although continuous positive airway pressure remains the treatment of choice, specific surgery can be used in those patients who cannot tolerate continuous positive airway pressure therapy

    Craniocervical Posture in Patients with Obstructive Sleep Apnea

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    Introduction Obstructive Sleep Apnea (OSA) is characterized by repeated episodes of upper airway obstruction during sleep. Objective The objective of this study is to verify the craniofacial characteristics and craniocervical posture of OSA and healthy subjects, determining possible relationships with the apnea/hypopnea index (AHI). Methods This case-control study evaluated 21 subjects with OSA, who comprised the OSA group (OSAG), and 21 healthy subjects, who constituted the control group (CG). Cephalometry analyzed head posture measurements, craniofacial measurements, and air space. Head posture was also assessed by means of photogrammetry. Results The groups were homogeneous regarding gender (12 men and 9 women in each group), age (OSAG = 41.86 ± 11.26 years; GC = 41.19 ± 11.20 years), and body mass index (OSAG = 25.65 ± 2.46 kg/m2; CG = 24.72 ± 3.01 kg/m2). We found significant differences between the groups, with lower average pharyngeal space and greater distance between the hyoid bone and the mandibular plane in OSAG, when compared with CG. A positive correlation was found between higher head hyperextension and head anteriorization, with greater severity of OSA as assessed by AHI. Conclusion OSAG subjects showed changes in craniofacial morphology, with lower average pharyngeal space and greater distance from the hyoid bone to the mandibular plane, as compared with healthy subjects. Moreover, in OSA subjects, the greater the severity of OSA, the greater the head hyperextension and anteriorization

    Disfunção temporomandibular e dor craniocervical em profissionais da área da enfermagem sob estresse no trabalho

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    RESUMO Objetivo: verificar a presença e severidade de Disfunção Temporomandibular, presença de cefaleia e cervicalgia e o limiar de dor muscular de músculos cervicais em profissionais de enfermagem sob estresse no trabalho. Métodos: 43 mulheres foram avaliadas quanto à presença e severidade de Disfunção Temporomandibular pelo instrumento Critérios de Diagnóstico para Pesquisa de Desordem Temporomandibular e pelo Índice Temporomandibular, respectivamente. Além disso, foram avaliadas quanto ao limiar de dor à pressão nos músculos cervicais por algometria e quanto à presença de cefaleia e cervicalgia. Resultados: disfunção Temporomandibular foi encontrada em 30,23% da amostra, com valor médio de escore de gravidade de 0,52. Entre as participantes com Disfunção Temporomandibular, 69,23% apresentavam depressão, 61,64% graduação I de dor crônica e Sintomas Físicos não Específicos incluindo e excluindo itens de dor em 46,15% e 61,64%, respectivamente. Cefaleia foi referida por 55,81% e cervicalgia por 60,47%. Não houve associação entre Disfunção Temporomandibular, cefaleia e cervicalgia. Os limiares de dor dos músculos cervicais apresentaram-se baixos tanto nos indivíduos com diagnóstico de Disfunção Temporomandibular quanto nos sem este diagnóstico, sem diferença significativa. O músculo esternocleidomastóideo apresentou-se com os menores limiares de dor à pressão. Conclusão: alta incidência de Disfunção Temporomandibular, cefaleia e cervicalgia foram detectadas nesta amostra. Disfunção Temporomandibular não influenciou a presença de cefaleia e/ou cervicalgia. A alta frequência de dor cervical e os baixos limiares de dor no músculo esternocleidomastóideo em todas as participantes demonstram o comprometimento dos músculos cervicais, resultante de possíveis posturas inadequadas e tensão muscular relacionadas ao estresse

    Relationship among perceived stress, anxiety, depression and craniocervical pain in nursing professionals under stress at work

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    Introduction: The appearance and evolution of some clinical pain conditions may be influenced by stress and other psychosocial factors. Face, head and cervical muscles may increase their activity and tension in the presence of stress, leading to craniocervicomandibular pain in individuals exposed to stress. Objective: To assess the relationship among perceived stress, anxiety, depression and craniocervicomandibular pain in nursing professionals under stress at work. Materials and Methods: Forty-three women under stress at work, according to the Job Stress Scale (JSS), were assessed by the Perceived Stress Scale (PSS), the Hospital Anxiety and Depression Scale (HADS), pressure pain threshold, measured by algometry, and muscle sensitivity to hand palpation of the masticatory and cervical muscles. Results: A low moderate level of perceived stress was found in 62.79% of the sample, anxiety in 11.63% and depression in 9.30%. The psychosocial scales correlated with each other. No correlation was found between pressure pain threshold and perceived stress, anxiety and depression. The level of pain to hand palpation correlated with the perceived stress scores. Conclusion: Pressure pain threshold was not influenced by the psychosocial factors assessed. Pain intensity to hand palpation, however, was higher as the perception of stress increased

    Aspectos clínicos e psicossociais avaliados por critérios de diagnóstico para disfunção temporomandibular

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    RESUMO Objetivo: analisar a associação entre a classificação de diagnósticos clínicos (dor miofascial, desordem discal e articular) e a graduação de dor crônica, depressão e sintomas físicos não específicos em sujeitos com disfunção temporomandibular. Métodos: foram incluídos 32 pacientes, com média de idade de 28,71±4,66 anos. Como instrumento de avaliação, foi utilizado o Critério de Diagnóstico para Pesquisa das Desordens Temporomandibulares - Eixo I e II. Quanto ao grupo diagnóstico, 88,13% dos indivíduos apresentaram diagnóstico misto, sendo 43,75% dos grupos I e III (distúrbios musculares e articulares) e 34,38% dos grupos I, II e III (distúrbios musculares, articulares e deslocamento de disco). Resultados: de acordo com o eixo II, 96,88% dos participantes foram classificados com dor crônica grau I e II (baixa incapacidade e baixa intensidade; baixa incapacidade e alta intensidade). Graus moderado e grave de depressão foram observados em 84,38% dos participantes. Na avaliação de sintomas físicos não específicos incluindo e excluindo dor, respectivamente, 59,38% apresentaram sintomas severos e 71,88% apresentaram sintomas moderados e severos. Verificou-se relação significante dos diagnósticos clínicos de disfunção temporomandibular com o grau de sintomas físicos não específicos incluindo dor. Conclusão: alguns aspectos clínicos e psicossociais estão associados em pacientes com disfunção temporomandibular, observando uma multiplicidade de diagnósticos clínicos com a presença de uma relação significante entre os diagnósticos clínicos encontrados e a presença de sintomas físicos inespecíficos com dor. Queixa de maior gravidade de sintomas físicos foi encontrada em pacientes com diagnóstico clínico múltiplo

    Relationship among perceived stress, anxiety, depression and craniocervical pain in nursing professionals under stress at work

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    Abstract Introduction: The appearance and evolution of some clinical pain conditions may be influenced by stress and other psychosocial factors. Face, head and cervical muscles may increase their activity and tension in the presence of stress, leading to craniocervicomandibular pain in individuals exposed to stress. Objective: To assess the relationship among perceived stress, anxiety, depression and craniocervicomandibular pain in nursing professionals under stress at work. Materials and Methods: Forty-three women under stress at work, according to the Job Stress Scale (JSS), were assessed by the Perceived Stress Scale (PSS), the Hospital Anxiety and Depression Scale (HADS), pressure pain threshold, measured by algometry, and muscle sensitivity to hand palpation of the masticatory and cervical muscles. Results: A low moderate level of perceived stress was found in 62.79% of the sample, anxiety in 11.63% and depression in 9.30%. The psychosocial scales correlated with each other. No correlation was found between pressure pain threshold and perceived stress, anxiety and depression. The level of pain to hand palpation correlated with the perceived stress scores. Conclusion: Pressure pain threshold was not influenced by the psychosocial factors assessed. Pain intensity to hand palpation, however, was higher as the perception of stress increased

    The ATP-operated P2X4 receptor is localized in the T-tubule membranes of skeletal muscle

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    The aim of the study was to investigated in skeletal muscle the expression, localization and possible function of P2X4 receptor, an extracellular ATP-operated channel mainly permeable to Ca2+. By RT-PCR and Western blot analysis we have demonstrated that P2X4 is expressed in several rat tissues, including skeletal muscle. A specific antibody detected a protein band of about 60 kDa whose level was higher in slow-than in fast-twitch muscles. P2X4 receptor is highly glycosylated because digestion with N-glycosidase F reduced the mass of the 60-kDa protein to about 45 kDa. Confocal immunofluorescence in longitudinal sections revealed that P2X4 receptor is transversally distributed and co-localized with the DHP receptor. This finding indicates that P2X4 decorates T-tubule membranes and raises the possibility that this ATP-gated cation channel may contribute to ECcoupling of skeletal muscle. In vitro experiments showed that stimulation of muscle fibers evokes the release of ATP, while tension recordings evidenced an ATP-dependent potentiation of contractility, particularly in fast-twitch muscles. The financial support of TELETHON ITALY (grants n. 1286) is gratefully acknowledged
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