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1.
Childs Nerv Syst ; 40(4): 1221-1237, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38456922

RESUMO

BACKGROUND: COVID-19 pandemic is thought to have changed the epidemiology of some pediatric neurosurgical disease: among them are the intracranial complications of sinusitis and otitis (ICSO). According to some studies on a limited number of cases, both streptococci-related sinusitis and ICSO would have increased immediately after the pandemic, although the reason is not clear yet (seasonal changes versus pandemic-related effects). The goal of the present survey of the European Society for Pediatric Neurosurgery (ESPN) was to collect a large number of cases from different European countries encompassing the pre-COVID (2017-2019), COVID (2020-2021), and post-COVID period (2022-June 2023) looking for possible epidemiological and/or clinical changes. MATERIAL AND METHODS: An English language questionnaire was sent to ESPN members about year of the event, patient's age and gender, presence of immune-deficit or other favoring risk factors, COVID infection, signs and symptoms at onset, site of primary infection, type of intracranial complication, identified germ, type and number of surgical operations, type and duration of medical treatment, clinical and radiological outcome, duration of the follow-up. RESULTS: Two hundred fifty-four cases were collected by 30 centers coming from 14 different European countries. There was a statistically significant difference between the post-COVID period (129 children, 86 cases/year, 50.7% of the whole series) and the COVID (40 children, 20 cases/year, 15.7%) or the pre-COVID period (85 children, 28.3 cases/year, 33.5%). Other significant differences concerned the presence of predisposing factors/concurrent diseases (higher in the pre-COVID period) and previous COVID infection (higher in the post-COVID period). No relevant differences occurred as far as demographic, microbiological, clinical, radiological, outcome, morbidity, and mortality data were concerned. Paranasal sinuses and middle ear/mastoid were the most involved primary site of infection (71% and 27%, respectively), while extradural or subdural empyema and brain abscess were the most common ICSO (73% and 17%, respectively). Surgery was required in 95% of cases (neurosurgical and ENT procedure in 71% and 62% of cases, respectively) while antibiotics in 99% of cases. After a 12.4-month follow-up, a full clinical and radiological recovery was obtained in 85% and 84% of cases, respectively. The mortality rate was 2.7%. CONCLUSIONS: These results suggest that the occurrence of ICSO was significantly increased after the pandemic. Such an increase seems to be related to the indirect effects of the pandemic (e.g., immunity debt) rather than to a direct effect of COVID infection or to seasonal fluctuations. ICSO remain challenging diseases but the pandemic did not affect the management strategies nor their prognosis. The epidemiological change of sinusitis/otitis and ICSO should alert about the appropriate follow-up of children with sinusitis/otitis.


Assuntos
Abscesso Encefálico , COVID-19 , Empiema Subdural , Otite , Sinusite , Criança , Humanos , Pandemias , COVID-19/complicações , Abscesso Encefálico/epidemiologia , Empiema Subdural/etiologia , Sinusite/complicações , Otite/complicações , Otite/epidemiologia , Estudos Retrospectivos
2.
J Stomatol Oral Maxillofac Surg ; 124(6): 101455, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36965816

RESUMO

BACKGROUND: Foramen of Huschke is a bone defect with wide clinical symptoms which ca can be responsible for severe complications. Clinical history and imaging are unspecific, it is therefore essential to recognize and treat the pathology related to the persistence of this foramen, to avoid destruction of the TMJ, chronic pain or OBJECTIVE: The aim of this review was to summarise the clinical manifestations and complications of persistent foramen of Huschke in adult patients, through a review of the cases reported in the literature. METHODS & MATERIALS: A literature search of the PubMed, Cochrane Library, ScienceDirect and Embase databases was conducted for all articles published up to November 2022 to identify studies and case reports concerning clinical manifestations and complications of persistent foramen of Huschke in adult patients, with the key words "foramen of Huschke" or "foramen tympanicum". RESULTS: 74 papers where firstly identify, and 21 were selected. This correspond to 46 patients with the additional case from our department. Symptoms mostly reported consisted of otitis (63%, 29/46), otorrhea (28.26%, 13/46), and masticatory tinnitus (19.57%, 9/46). Diagnosis was priority made by CT-scan (95.65%, 44/46). Surgery was the most performed treatment (28.26%, 13/46). In our case, the use of FLUOBEAM® NIR camera was help-full for TMJ surgery. CONCLUSION: Persistent foramen of Huschke should be suspected in the presence of otitis, otorrhea and masticatory tinnitus. Knowledge of this anatomical variation could help to treat certain pathology like TMJ disorders or TMJ septic arthritis.


Assuntos
Artrite Infecciosa , Otite , Transtornos da Articulação Temporomandibular , Zumbido , Adulto , Humanos , Otite/complicações , Transtornos da Articulação Temporomandibular/diagnóstico , Transtornos da Articulação Temporomandibular/epidemiologia , Transtornos da Articulação Temporomandibular/etiologia , Zumbido/complicações , Tomografia Computadorizada por Raios X
3.
Biochem Pharmacol ; 210: 115457, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36806583

RESUMO

NOD-like receptor protein 3 (NLRP3) inflammasomes trigger the inflammatory cascades and participate in various inflammatory diseases, including noise-induced hearing loss (NIHL) caused by oxidative stress. Recently, the anti-inflammatory traditional medicine oridonin (Ori) has been reported to provide hearing protection in mice after noise exposure by blocking the NLRP3-never in mitosis gene A-related kinase 7 (NEK7)-inflammasome complex assembly. Using RNA sequencing analysis, we further elucidated that interleukin 1 receptor type 2 (IL1R2) may be another crucial factor regulated by Ori to protect NIHL. We observed that IL1R2 expression was localized in spiral ganglion neurons, inner and outer hair cells, in Ori-treated mouse cochleae. Additionally, we confirmed that ectopic overexpression of IL1R2 in the inner ears of healthy mice using an adeno-associated virus delivery system significantly reduced noise-induced ribbon synapse lesions and hearing loss by blocking the "cytokine storm" in the inner ear. This study provides a novel theoretical foundation for guiding the clinical treatment of NIHL.


Assuntos
Orelha Interna , Perda Auditiva Provocada por Ruído , Otite , Camundongos , Animais , Perda Auditiva Provocada por Ruído/tratamento farmacológico , Perda Auditiva Provocada por Ruído/etiologia , Perda Auditiva Provocada por Ruído/patologia , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Orelha Interna/metabolismo , Orelha Interna/patologia , Inflamação/complicações , Anti-Inflamatórios/farmacologia , Otite/complicações , Receptores de Interleucina-1
4.
Int J Pediatr Otorhinolaryngol ; 162: 111329, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36198231

RESUMO

OBJECTIVE: To identify the prevalence of hearing impairment and associated risk factors in children living with human immunodeficiency virus (HIV) in Haiti. METHODS: A validated smartphone-based platform with pure-tone audiometry was used to screen 341 HIV-infected children for hearing impairment in Port-au-Prince, Haiti from March 2019 to September 2020. If screening was failed, a more comprehensive pure-tone audiometric evaluation was administered. Demographic, otologic, and HIV-related data were obtained through caregiver surveys and medical charts. Statistical analysis included univariate and multivariate logistic regression. RESULTS: Sixty (18%) of 341 HIV-infected children (ages 7-18 years) had hearing impairment. Of those failing their hearing assessment, 17 (28%) had moderate and 5 (8%) had severe or profound hearing loss. Hearing impairment was associated with frequent ear infections (OR 3.37; 95% CI 1.76-6.46; p < 0.001) and family history of hearing loss (OR 5.12; 95% CI 2.14-12.23; p = 0.001) but not viral load (OR 1.00; 95% CI 0.73-1.02; p = 0.28) or antiretroviral therapy duration (OR 0.96; 95% CI 0.79-1.17; p = 0.66). Only 35% of caregivers correctly perceived their child's hearing loss. CONCLUSIONS: Hearing impairment occurs at a higher prevalence in HIV-infected children in Haiti than what is expected for those living without HIV. Frequent ear infections were significantly associated with hearing loss while antiretroviral therapy duration was not. Despite their potential ototoxicity, antiretroviral therapies should be continued and may decrease incidence of otitis media. Low caregiver perception of hearing loss emphasizes the need for routine hearing screening for HIV-infected children.


Assuntos
Surdez , Infecções por HIV , Perda Auditiva , Otite , Adolescente , Antirretrovirais , Audiometria de Tons Puros , Criança , Surdez/complicações , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Haiti/epidemiologia , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Humanos , Otite/complicações
5.
J Am Geriatr Soc ; 70(7): 2060-2069, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35352336

RESUMO

BACKGROUND: Advanced age is a risk factor for unfavorable outcome in community-acquired bacterial meningitis, but clinical characteristics and outcome in meningitis patients of 80 years or older have not been defined. METHODS: We compared clinical characteristics and outcome of community-acquired bacterial meningitis patients aged 80 years or older and adults under 80 years old within a prospective nationwide cohort study. RESULTS: Out of 2140 episodes identified between March 2006 and July 2018, 149 occurred in patients aged 80 years or older (7%). Common predisposing factors other than age were diabetes mellitus (25 of 148 [17%]), otitis or sinusitis (30 of 136 [22%]), and pneumonia (23 of 141 [16%]). The triad of fever, neck stiffness and altered consciousness was present in 60 of 139 (43%). The most common causative pathogen was Streptococcus pneumoniae (99 of 149 [66%]). Atypical causative pathogens, such as Listeria monocytogenes, Staphylococcus aureus, and Escherichia coli, occurred more often compared to younger patients (49 of 149 [33%] vs 362 of 1991 [18%]; p < 0.001). Patients of 80 years and older had high case fatality rate (75 of 149 [50%]), but 45 of 149 (30%) had a favorable outcome. Characteristics associated with an unfavorable outcome were absence of otitis or sinusitis, presence of aphasia, mono- or hemiparesis, a lower score on the Glasgow Coma Scale, a higher heart rate, a higher blood C-reactive protein concentration and CSF leukocytes <100 per mm3 . CONCLUSIONS: Bacterial meningitis in patients of 80 years of older is associated with high rates of unfavorable outcome and death. Atypical causative pathogens such as L. monocytogenes, S. aureus, and E. coli occur commonly and should be considered when starting empirical antimicrobial therapy in this age group.


Assuntos
Infecções Comunitárias Adquiridas , Meningites Bacterianas , Otite , Idoso de 80 Anos ou mais , Estudos de Coortes , Infecções Comunitárias Adquiridas/epidemiologia , Escherichia coli , Humanos , Meningites Bacterianas/complicações , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/epidemiologia , Otite/complicações , Estudos Prospectivos , Staphylococcus aureus
7.
Med Trop Sante Int ; 1(1)2021 03 31.
Artigo em Francês | MEDLINE | ID: mdl-35685400

RESUMO

A 68-year-old patient presents with chronic right-sided otorrhea associated with hypoacousis and chronic cough. Otoscopy showed multiple perforations of the right eardrum. The search of acid-fast bacilli was positive for direct examination of sputum and negative for the examination of ear pus. A antituberculosis treatment has been initiated.


Assuntos
Otopatias , Otite , Idoso , Antituberculosos , Otopatias/complicações , Humanos , Otite/complicações , Otoscopia , Membrana Timpânica
8.
Int J Pediatr Otorhinolaryngol ; 123: 47-50, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31063948

RESUMO

INTRODUCTION: Peritonsillar abscess (PTA) in pediatric patients is a challenging condition to diagnose and treat, and recurrence can occur in up to 15% of patients. This condition can be managed in various settings and there may be outcome differences depending on the choice of inpatient/outpatient management. The objective of this study was to evaluate immediate and long-term outcomes, specifically recurrence, after PTA management in the inpatient versus outpatient setting as well as specific patient characteristics leading to hospital management decisions. METHODS: We conducted a retrospective cohort study of all suspected cases of PTA seen at a tertiary pediatric hospital from 2008 to 2017, and 566 confirmed cases of PTA were included in this study. Demographics, PTA management, recurrence, and subsequent tonsillectomy (immediate or within 1 year of diagnosis) were ascertained from patient medical records. We compared characteristics of patients seen in the inpatient and outpatient setting using Chi-squared and Wilcoxon-Mann-Whitney tests. RESULTS: Patients treated in the outpatient setting were more likely to be older and have a lower rate of recurrent ear infections (p < 0.0001 and p = 0.01 respectively). Additionally, no differences in gender, Down Syndrome, or autism were found. Patients who were admitted were more likely to undergo immediate tonsillectomy within a month or tonsillectomy within one year (p < 0.0001 and p = 0.02 respectively), whereas patients in the outpatient setting were more likely to receive antibiotics alone (p < 0.0001). Outpatient management was associated with no differences in recurrence rate within 30 days (p = 0.56). However, recurrence was associated with older age, a history of recurrent tonsillitis, but not a history of ear infections (p = 0.005, p < 0.0001, and p = 0.49 respectively). A history of recurrent ear infections, recurrent tonsillitis and recurrent PTAs were associated with the decision to pursue a tonsillectomy (p = 0.003, p = 0.03, and p < 0.0001 respectively). CONCLUSIONS: Patients seen in the outpatient setting are more likely to receive antibiotics alone as their initial treatment, likely a result of certain clinical characteristics and presenting features as well as uncertain diagnosis. Inpatient status was associated with a younger age and a history of ear infections while recurrence was associated with a history of recurrent tonsillitis and older age. The recurrence rates for outpatient management were not statistically different than inpatient, suggesting that triaging and treatment of patients was occurring appropriately. The association of tonsillectomies in the inpatient group within 12 months is likely due to the higher rate of preexisting tonsil issues considering that recurrent tonsillitis, ear infections and a higher rate of PTA recurrence were all statistically correlated.


Assuntos
Assistência Ambulatorial/estatística & dados numéricos , Antibacterianos/uso terapêutico , Hospitalização/estatística & dados numéricos , Abscesso Peritonsilar/tratamento farmacológico , Abscesso Peritonsilar/cirurgia , Tonsilectomia/estatística & dados numéricos , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Otite/complicações , Abscesso Peritonsilar/complicações , Recidiva , Estudos Retrospectivos , Fatores de Tempo , Tonsilite/complicações
9.
Otol Neurotol ; 40(4): 446-453, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30870353

RESUMO

OBJECTIVE: To investigate the clinical characteristics, etiology, treatment outcomes, and prognostic factors of sudden sensorineural hearing loss (SSNHL) in children to guide the clinical diagnosis and treatment of SSNHL in the pediatric population. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Patients diagnosed with SSNHL from November 2011 to December 2017 with relatively complete clinical data. INTERVENTION: Diagnosis and systemic treatment of SSNHL. MAIN OUTCOME MEASURES: Patients' clinical characteristics, etiology, laboratory tests, imaging, pure-tone audiometry at admission, and discharge were analyzed. RESULTS: A total of 25 children and 149 adults with SSNHL were included. Recent or previous viral infection rates (81.8%) and fasting blood glucose level (5.23 + 1.47 mmol/L) in children with SSNHL were lower than those in adult SSNHL patients (p = 0.033, p = 0.033). Autoimmune abnormalities (90.0%) and plasma fibrinogen abnormalities (27.3%) were higher in children with SSNHL than those in adult SSNHL patients (40.0%, 8.8%, respectively, p < 0.05). The recovery rate in children (38.4%) with SSNHL is comparable to that in adults (22.6%), but children have a higher complete rate compared to adults (26.9%, 11.3%, respectively, p < 0.05). Children with a profound audiometric curve had a worse prognosis in comparison to other types of audiometric curves (p = 0.041). CONCLUSIONS: Children with SSNHL have a lower rate of viral infection in comparison to adults with SSNHL. Fasting blood glucose levels, complement C3, C4, and fibrinogen may be closely related to childhood SSNHL. The recovery rate in children with SSNHL is comparable to that in adults, but children have a higher complete rate compared to adults. A profound hearing curve is an unfavorable prognostic factor in both children and adults with SSNHL.


Assuntos
Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Adolescente , Adulto , Idoso , Audiometria de Tons Puros , Doenças Autoimunes/complicações , Glicemia/metabolismo , Criança , Pré-Escolar , Complemento C3 , Feminino , Fibrinogênio/análise , Glucocorticoides/uso terapêutico , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/patologia , Perda Auditiva Neurossensorial/fisiopatologia , Perda Auditiva Súbita/etiologia , Perda Auditiva Súbita/patologia , Perda Auditiva Súbita/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Otite/complicações , Prognóstico , Estudos Retrospectivos , Viroses/complicações , Adulto Jovem
10.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(2): 93-97, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30639598

RESUMO

OBJECTIVES: To analyze the etiologies, auditory consequences, diagnostic tools and therapeutic results of three often confused pathologies: acquired fibrous stenosis of the medial part of the external auditory canal (EAC), fibrous anterior tympanomeatal angle blunting, and lateralized tympanic membrane. MATERIAL AND METHODS: Retrospective study of 18 cases operated on over a 16-year period (14 patients: 7 female, 7 male; aged 11-64 years): 8 cases of medial EAC stenosis, 3 of blunting, and 7 of tympanic membrane lateralization. RESULTS: In all 3 pathologies, otoscopic and radiologic diagnosis was easily established, so that they could not be confused. All 3 induced>33dB conductive hearing loss. Medial EAC stenosis was secondary to chronic inflammation of the EAC, aggravated by surgery in 5 cases. Blunting was secondary to surgery altering the anterior tympanic annulus. Tympanic membrane lateralization was secondary to prior surgery without inflammatory process. Underlying EAC cholesteatoma was found in 3 cases of medial stenosis and in 1 case of blunting. Surgical results were disappointing in medial stenosis, with 62.5% recurrence and mean functional gain of 9dB, and in blunting, with 66.7% recurrence and mean functional gain of 6dB; auditory results were, however, good in these 2 pathologies when there was no recurrence of fibrosis. Results were significantly better in lateralized tympanic membrane, with 28.6% recurrence and mean functional gain of 16dB. CONCLUSION: The good results obtained in tympanic membrane lateralization seem to justify surgery in patients bothered by their hearing loss. The indication is more questionable in cases of medial fibrous stenosis and blunting, although significant auditory improvement is achieved in case of surgical success.


Assuntos
Meato Acústico Externo/patologia , Membrana Timpânica/patologia , Adolescente , Adulto , Criança , Colesteatoma da Orelha Média/diagnóstico , Constrição Patológica/diagnóstico , Constrição Patológica/etiologia , Constrição Patológica/cirurgia , Feminino , Fibrose , Perda Auditiva Condutiva/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Otite/complicações , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Recidiva , Resultado do Tratamento , Membrana Timpânica/cirurgia , Perfuração da Membrana Timpânica/cirurgia , Timpanoplastia/efeitos adversos , Adulto Jovem
11.
J Laryngol Otol ; 132(9): 842-845, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30187838

RESUMO

BACKGROUND: Unilateral total facial palsy is a debilitating condition that can affect an individual's physical, social and emotional wellbeing. When this occurs bilaterally, the severity of impact is extreme, with significant cosmetic disfigurement and functional morbidity. A variety of facial reanimation techniques have been used for unilateral facial weakness of varying House-Brackmann grades, and these are also applicable in bilateral cases. In bilateral cases, it is difficult to gauge successful improvement in comparison to the contralateral side, which also is afflicted.Case reportThis paper presents our experience with a bilateral facial paralysis patient who had a complex otological history. The patient, who presented with bilateral debilitating grade VI facial palsy, achieved a good result from bilateral facial reanimation with sequential hypoglossal-facial anastomosis. This is considered a reasonable option in cases of bilateral facial paralysis.


Assuntos
Anastomose Cirúrgica/métodos , Aspergilose/microbiologia , Paralisia de Bell/cirurgia , Orelha Média/microbiologia , Nervo Hipoglosso/cirurgia , Mastoidectomia/efeitos adversos , Otite/microbiologia , Aspergilose/complicações , Aspergilose/tratamento farmacológico , Aspergillus fumigatus/isolamento & purificação , Paralisia de Bell/classificação , Paralisia de Bell/etiologia , Paralisia de Bell/reabilitação , Orelha Média/patologia , Humanos , Nervo Hipoglosso/fisiopatologia , Doença Iatrogênica , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/métodos , Otite/complicações , Otite/tratamento farmacológico , Modalidades de Fisioterapia/efeitos adversos , Complicações Pós-Operatórias/patologia , Qualidade de Vida , Recuperação de Função Fisiológica/fisiologia , Resultado do Tratamento
12.
J Vet Diagn Invest ; 30(5): 784-788, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30129392

RESUMO

Infectious coryza, caused by Avibacterium paragallinarum, is an acute respiratory disease of poultry that can result in substantial morbidity, mortality, and economic losses. In March 2017, the Turlock branch of the California Animal Health and Food Safety laboratory system encountered an unusual clinical and pathologic presentation of infectious coryza in 6 live, 29-d-old, commercial broiler chickens that were submitted for diagnostic investigation. Antemortem evaluation revealed severe neurologic signs, including disorientation, torticollis, and opisthotonos. Swollen head-like syndrome and sinusitis were also present. Histologically, severe sinusitis, cranial osteomyelitis, otitis media and interna, and meningoencephalitis were noted, explaining the clinical signs described. A. paragallinarum was readily isolated from the upper and lower respiratory tract, brain, and cranial bones. Infectious bronchitis virus (IBV) was also detected by PCR, and IBV was isolated in embryonated chicken eggs. Based on sequencing analysis, the IBV appeared 99% homologous to strain CA1737. A synergistic effect between A. paragallinarum and IBV, resulting in exacerbation of clinical signs and increased mortality, may have occurred in this case. A. paragallinarum should be considered among the possible causes of neurologic signs in chickens. Appropriate media should be used for bacterial isolation, and the role of additional contributing factors and/or complicating agents should be investigated in cases of infectious coryza.


Assuntos
Meningoencefalite/veterinária , Otite/veterinária , Infecções por Pasteurellaceae/veterinária , Pasteurellaceae/isolamento & purificação , Doenças das Aves Domésticas/diagnóstico , Animais , California , Galinhas , Meningoencefalite/complicações , Meningoencefalite/diagnóstico , Otite/complicações , Otite/diagnóstico , Pasteurellaceae/genética , Infecções por Pasteurellaceae/complicações , Infecções por Pasteurellaceae/diagnóstico , Reação em Cadeia da Polimerase/veterinária , Doenças das Aves Domésticas/microbiologia
13.
Rev. lab. clín ; 11(2): 97-100, abr.-jun. 2018. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-174362

RESUMO

El síndrome de Kabuki (SK) es una rara enfermedad genética que cursa con importantes alteraciones cardiacas e inmunológicas. La mayoría de los pacientes son diagnosticados en los primeros años de vida pese a que la edad de inicio no está bien definida. Los pacientes afectos presentan infecciones de repetición debido a su inmunosupresión pudiendo llegar a un estado de agranulocitosis. Aunque su pronóstico es bastante favorable, su esperanza de vida viene condicionada por este tipo de complicaciones. Por ello, conocer sus características analíticas particulares resulta interesante desde el punto de vista del laboratorio de hematología para contribuir en su orientación diagnóstica y en el seguimiento de los mismos. Presentamos el caso de un paciente diagnosticado de SK


Kabuki syndrome (KS) is a rare genetic disease that usually involves significant cardiac and immunological disorders. Most patients are diagnosed in the first years of life, despite the fact that the age of onset is not well-defined. Affected patients have recurrent infections due to their immunosuppression, and may reach a state of agranulocytosis. Although their prognosis is quite favourable, their life expectancy is determined by these types of complications. Therefore, to understand its particular analytical characteristics is interesting from the point of view of the Haematology Laboratory to contribute to their diagnosis and follow-up. The case is presented of a patient diagnosed with KS


Assuntos
Humanos , Feminino , Criança , Agranulocitose/diagnóstico , Agranulocitose/genética , Prognóstico , Neutropenia/genética , Mutagênese , Agranulocitose/complicações , Neutropenia/complicações , Otite/complicações , Otite/diagnóstico , Pseudomonas aeruginosa/isolamento & purificação , Deficiências do Desenvolvimento/complicações , Testes Hematológicos/métodos , Diagnóstico Diferencial
14.
Med Clin North Am ; 101(3): 641-656, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28372718

RESUMO

Most otolaryngology-related complaints are straightforward and easily recognized and treated. However, given the proximity of the ears, nose, and throat to numerous vital structures in the head and neck, the potential for serious consequences exists if disease processes go unrecognized and untreated. This article serves to familiarize the primary care provider with the clinical presentation of various complications associated with common otolaryngologic complaints. Clinicians who care for patients presenting with otolaryngologic complaints should keep these entities in mind and attempt to rule out any serious complication.


Assuntos
Emergências , Otorrinolaringopatias/complicações , Atenção Primária à Saúde , Corpos Estranhos/complicações , Humanos , Otite/complicações , Doenças Faríngeas/complicações , Sinusite/complicações , Ferimentos e Lesões/complicações
16.
Laryngorhinootologie ; 96(5): 306-311, 2017 May.
Artigo em Alemão | MEDLINE | ID: mdl-28099983

RESUMO

Patients suffering from abducent nerve palsy are usually primary seen by a conservative medical Specialist. In most cases the ENT specialist is secondary involved for treatment. In the majority of cases abducent nerve palsy is a temporary symptom associated with neurologic or vascular diseases. Rarely inflammation, neoplasm or fracture of the skull base cause this symptom and lead to an intervention done by the ENT surgeon. This case series describes retrospectively the abducent palsy seen through the eyes of an ENT surgeon. From 2008 to 2011 15 patients suffering from abducent nerve palsy. One patient suffering from a temporal bone fracture has been treated conservatively while 14 patients needed surgery. 6 patients had a complicated inflammation of the skull base. In 7 patients skull base neoplasms were found in endoscopic surgery. In one case the underlying pathology remained unclear. 2 third of the patients that suffered from complications of inflammatory diseases completely recovered after a combined operative and conservative therapy. The patients who suffered from neoplasms of the skull base partially recovered in only one third, none, achieved full recovery. The patient with the temporal bone fracture achieved a partial recovery after 3 months. If the leading symptom of abducent palsy is caused by a severe extracranial inflammation, neoplasm or trauma an experienced skull base surgeon is mandatory. The recovery rate of abducent palsy in our case series was 60 %. The prognosis of abducent palsy in skull base inflammation is much better compared to patients with skull base neoplasm.


Assuntos
Doenças do Nervo Abducente/diagnóstico , Doenças do Nervo Abducente/etiologia , Otolaringologia , Doenças do Nervo Abducente/cirurgia , Adulto , Idoso , Criança , Pré-Escolar , Seguimentos , Humanos , Comunicação Interdisciplinar , Colaboração Intersetorial , Pessoa de Meia-Idade , Neoplasias Nasofaríngeas/complicações , Neoplasias Nasofaríngeas/diagnóstico , Neoplasias Nasofaríngeas/cirurgia , Osteomielite/complicações , Osteomielite/diagnóstico , Osteomielite/cirurgia , Otite/complicações , Otite/diagnóstico , Otite/cirurgia , Petrosite/complicações , Petrosite/diagnóstico , Petrosite/cirurgia , Estudos Retrospectivos , Sinusite/complicações , Sinusite/diagnóstico , Sinusite/cirurgia , Neoplasias da Base do Crânio/complicações , Neoplasias da Base do Crânio/diagnóstico , Neoplasias da Base do Crânio/cirurgia , Fraturas Cranianas/complicações , Fraturas Cranianas/diagnóstico , Fraturas Cranianas/cirurgia , Osso Temporal/lesões , Adulto Jovem
17.
Rev Neurol ; 64(1): 31-37, 2017 Jan 01.
Artigo em Espanhol | MEDLINE | ID: mdl-28000910

RESUMO

INTRODUCTION: A great deal of research has addressed problems in the correct acquisition of language, but with few overall conclusions. The reasons for this lie in the individual variability, the existence of different measures for assessing language and the fact that a complex network of genetic and environmental factors are involved in its development. AIM: To review the environmental and genetic variables that have been studied to date, in order to gain a better under-standing of the causes of specific language impairment and create new evidence that can help in the development of screening systems for the early detection of these disorders. DEVELOPMENT: The environmental variables related with poorer early child language development include male gender, low level of education of the mother, familial history of problems with language or psychiatric problems, perinatal problems and health problems in early childhood. Bilingualism seems to be a protective factor. Temperament and language are related. Within the genetic factors there are several specific genes associated with language, two of which have a greater influence on its physiological acquisition: FOXP2 and CNTNAP2. The other genes that are most related with specific language disorders are ATP2C2, CMIP, ROBO2, ZNF277 and NOP9. CONCLUSIONS: The key to comprehending the development of specific language disorders lies in reaching an understanding of the true role played by genes in the ontogenesis, in the regulation of the different developmental processes, and how this role is modulated by the environment.


TITLE: Variables ambientales y geneticas relacionadas con alteraciones en la adquisicion del lenguaje en la infancia.Introduccion. Los problemas en la correcta adquisicion del lenguaje se han estudiado mucho, pero con escasas conclusiones globales; a ello contribuye la variabilidad individual, la existencia de diferentes medidas para evaluar el lenguaje y a que en su desarrollo participa una compleja red de factores geneticos y ambientales. Objetivo. Revisar las variables ambientales y geneticas que se han investigado hasta la actualidad, para comprender mejor las causas de los trastornos especificos del lenguaje y crear nuevas evidencias que faciliten la elaboracion de sistemas de deteccion precoz de estos trastornos. Desarrollo. Dentro de las variables ambientales relacionadas con peor desarrollo en el lenguaje infantil estan el sexo masculino, un nivel educacional maternal bajo, una historia familiar de problemas en el lenguaje o problemas psiquiatricos, los problemas perinatales y los problemas de salud en la infancia. El bilinguismo parece ser un factor protector. El temperamento y el lenguaje tienen relacion. Dentro de los factores geneticos existen ya varios genes especificos asociados con el lenguaje, dos de ellos con una influencia mayor en su adquisicion fisiologica: FOXP2 y CNTNAP2. Los otros genes mas relacionados con trastornos especificos del lenguaje son ATP2C2, CMIP, ROBO2, ZNF277 y NOP9. Conclusiones. La clave para entender el desarrollo de los trastornos especificos del lenguaje radica en llegar a comprender el verdadero papel que desempeñan los genes en la ontogenia, regulando los diferentes procesos de desarrollo y como este papel se ve modulado por el ambiente.


Assuntos
Transtornos do Desenvolvimento da Linguagem/etiologia , Traumatismos do Nascimento/complicações , Criança , Desenvolvimento Infantil , Pré-Escolar , Dislexia/etiologia , Dislexia/genética , Escolaridade , Feminino , Interação Gene-Ambiente , Humanos , Lactente , Recém-Nascido , Doenças do Prematuro , Desenvolvimento da Linguagem , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Multilinguismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/fisiologia , Otite/complicações , Recidiva , Fatores de Risco , Fatores Sexuais , Meio Social , Fatores Socioeconômicos
18.
J. investig. allergol. clin. immunol ; 27(4): 213-224, 2017. tab
Artigo em Inglês | IBECS | ID: ibc-165010

RESUMO

Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications. Since the spectrum of pulmonary complications in PIDs is broad, we divided pulmonary complications into upper respiratory complications (eg, sinusitis, otitis media, and laryngeal angioedema) and lower respiratory complications (eg, pneumonia, bronchitis, bronchiectasis, interstitial lung diseases, organizing pneumonia, pulmonary adenopathies and malignancies, hyperreactive airway diseases, pulmonary dysgenesis, and adverse reactions to treatment). This review covers the main respiratory manifestations in patients with PIDs (AU)


Las inmunodeficiencias primarias (PIDs) son enfermedades causadas por uno o más defectos del sistema inmunológico. Estos pacientes presentan con frecuencia infecciones recidivantes y/o severas así como otro tipo de complicaciones. Las patologías respiratorias son la principal y más frecuente manifestación y complicación de las PIDs. Las complicaciones de estas patologías pulmonares constituyen una de las principales causas de morbimortalidad entre los pacientes que sufren PIDs. El diagnóstico temprano y el tratamiento adecuado pueden prevenir, o al menos retrasar, la aparición de las complicaciones respiratorias en estos pacientes. Dado que el espectro de las enfermedades pulmonares es muy amplio, hemos dividido estas complicaciones entre aquellas que afectan a las vías aéreas superiores (sinusitis, otitis media y angioedema laríngeo, etc.) y las que afectan a las vías aéreas bajas (neumonía, bronquitis, bronquiectasias, enfermedades pulmonares intersticiales, neumonía organizada, adenopatías pulmonares y neoplasias, hiperreactividad bronquial, disgenesia pulmonar y las debidas a los efectos secundarios del tratamiento instaurado). Este artículo revisa las manifestaciones respiratorias que se observan más frecuentemente en los pacientes con PIDs (AU)


Assuntos
Humanos , Sistema Imunitário/imunologia , Sistema Imunitário/patologia , Doenças Respiratórias/patologia , Infecções/complicações , Pneumopatias/patologia , Doenças Pulmonares Intersticiais/imunologia , Pneumopatias/complicações , Sinusite/complicações , Otite/complicações , Doenças Pulmonares Intersticiais/complicações , Bronquite/complicações , Pneumonia/complicações , Hiper-Reatividade Brônquica/complicações , Diagnóstico Precoce , Bronquiectasia/complicações
19.
Radiología (Madr., Ed. impr.) ; 58(3): 189-198, mayo-jun. 2016. ilus
Artigo em Espanhol | IBECS | ID: ibc-152813

RESUMO

El oído externo (OE) es accesible al examen directo. En la mayor parte de las enfermedades, la historia clínica y la otoscopia son suficientes para su diagnóstico y tratamiento. Nuestro objetivo es describir la anatomía normal del OE, especificar las indicaciones de pruebas de imagen y revisar las manifestaciones clínicas y radiológicas de las enfermedades más frecuentes, que clasificaremos según su origen en patología congénita, inflamatoria e infecciosa, tumoral ósea benigna, traumática y tumoral maligna. Las pruebas de imagen no desempeñan un papel importante en la patología del OE, pero en determinados escenarios clínicos pueden ser cruciales para alcanzar el diagnóstico concreto y establecer el tratamiento idóneo. La tomografía computarizada es la técnica de elección para la mayor parte de las enfermedades. La resonancia magnética es complementaria, permite discriminar tejidos de diferente naturaleza y evaluar con precisión la extensión de la enfermedad (AU)


The external ear is accessible to direct examination; the clinical history and otoscopy are sufficient to diagnose and treat most diseases of the external ear. We aim to describe the normal anatomy of the external ear, specify the indications for imaging tests, and review the clinical and radiological manifestations of the most common diseases affecting the external ear. We classify these diseases according to their origin into congenital, inflammatory, infectious, or traumatic disease or benign bone tumors or malignant tumors. Imaging does not play an important role in diseases of the external ear, but in certain clinical scenarios it can be crucial for reaching a concrete diagnosis and establishing the best treatment. Computed tomography is the first-choice technique for most diseases. Magnetic resonance imaging complements computed tomography and makes it possible to differentiate among different tissue types and to evaluate the extension of disease accurately (AU)


Assuntos
Humanos , Masculino , Feminino , Orelha Externa/patologia , Orelha Externa , Otoscopia/métodos , Otoscopia/tendências , Otite/complicações , Otite , Otite Externa , Cerume , Colesteatoma/patologia , Colesteatoma , Tomografia Computadorizada de Emissão/métodos , Tomografia Computadorizada de Emissão , Orelha Externa/anormalidades , Orelha Externa/anatomia & histologia , Orelha Externa/fisiopatologia , Ceratose , Fibrose , Exostose , Osteoma , Carcinoma de Células Escamosas
20.
Eur J Clin Microbiol Infect Dis ; 35(5): 735-40, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26951264

RESUMO

There is an increased recovery of Fusobacterium necrophorum from cases of otitis media and mastoiditis in the pediatric population. These infections may be highly severe, causing local osteomyelitis, bacteremia, and Lemierre's syndrome. The severity and difficulties in providing optimal treatment for these infections may be especially difficult in this age group due to immunological immaturity and delayed presentation. In this review of literature, we present and analyze the clinical presentation, management, and outcome of otic infections caused by F. necrophorum in infants and young toddlers less than 2 years old. Search in Pubmed was conducted for reported cases in the English literature for the time period of the last 50 years. Twelve well-described cases were retrieved with F. necrophorum otitis and mastoiditis and complications reported in all cases. Treatment included both intravenously with antimicrobial agents (beta lactams plus metronidazole) and mastoidectomy. Lemierre's syndrome and Lemierre's syndrome variants developed in 60 % of the patients. Dissemination of the infection as distal osteomyelitis and septic shock were also reported. The outcome was favorable in all the cases. Otitis and mastoiditis infections in children less then 2 years old are invasive infections, and severe complications can occur.


Assuntos
Infecções por Fusobacterium/microbiologia , Fusobacterium necrophorum/fisiologia , Mastoidite/microbiologia , Otite/microbiologia , Fatores Etários , Pré-Escolar , Infecções por Fusobacterium/complicações , Infecções por Fusobacterium/diagnóstico , Infecções por Fusobacterium/terapia , Humanos , Lactente , Recém-Nascido , Mastoidite/complicações , Mastoidite/diagnóstico , Mastoidite/terapia , Otite/complicações , Otite/diagnóstico , Otite/terapia
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