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1.
Anaesthesia ; 74(12): 1572-1579, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31508815

RESUMO

Adenotonsillectomies are commonly performed procedures and sleep-disordered breathing is becoming increasingly important as an indication for surgery. Because of the higher risks in patients with obstructive sleep apnoea, the required level of postoperative care for these patients is currently under discussion, and better identification of patients at risk may reduce unnecessary postoperative monitoring. To evaluate the influence of obstructive sleep apnoea, and other risk factors, on peri-operative complications in children requiring adenotonsillectomy, we performed a retrospective case-control study that included 1995 patients treated between January 2009 and June 2017. In our analysis, young age (OR 3.8, 95%CI 2.1-7.1), low body weight (OR 2.6, 95%CI 1.5-4.4), obstructive sleep apnoea (OR 2.4, 95%CI 1.5-3.8), pre-existing craniofacial or syndromal disorders (OR 2.3, 95%CI 1.4-3.8) and adenotonsillectomy, compared with adenoidectomy alone, (OR 7.9, 95%CI 4.7-13.1) were identified as risk factors for complications during or after surgery, p < 0.001. All 13 patients suffering from complications more than 3 h postoperatively had obstructive sleep apnoea plus at least one more of these risk factors. Patients at risk of postoperative complications can therefore be identified by several criteria pre-operatively, and should be monitored postoperatively using pulse oximetry overnight. For all other patients, postoperative observation on a surgical ward without extra monitoring is sufficient. Admission to paediatric intensive care should be reserved for patients suffering serious intra-operative complications.


Assuntos
Adenoidectomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Tonsilectomia/efeitos adversos , Adenoidectomia/estatística & dados numéricos , Adolescente , Fatores Etários , Peso Corporal , Estudos de Casos e Controles , Criança , Pré-Escolar , Anormalidades Craniofaciais/complicações , Feminino , Humanos , Lactente , Masculino , Monitorização Fisiológica , Oximetria , Estudos Retrospectivos , Fatores de Risco , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/epidemiologia , Tonsilectomia/estatística & dados numéricos
2.
Int J Pediatr Otorhinolaryngol ; 127: 109682, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31546061

RESUMO

OBJECTIVE: To review a single-surgeon, 16-year experience with the management of infected preauricular sinuses/cysts. METHODS: Computerized search of all office notes and operative reports during the years 2002-2018. SETTING: Academic medical center and suburban office practice. PARTICIPANTS: Children from 0 to 18 years of age with symptomatic preauricular sinuses/cysts. INTERVENTION: Children with symptomatic preauricular sinuses/cysts underwent surgical excision. Those presenting with infected cysts were treated with oral antibiotics, needle-aspiration and/or incision and drainage to control infection prior to surgery. The chronic preauricular abscesses were curetted without resection of overlying skin or the abscess walls. MAIN OUTCOME MEASURE: Control of infection without recurrence following surgery. RESULTS: 415 patient encounters involved preauricular sinuses/cysts. These ultimately led to 56 surgical excisions. 28 of the sinuses/cysts were infected at presentation. All infected lesions were treated with oral antibiotics. 6 infected sinuses/cysts were needle aspirated. 2 infected sinuses/cysts required incision and drainage. 1 infected sinus/cyst could not be controlled by either drainage technique and was surgically excised while actively infected. Nine children presented with chronic preauricular abscesses. One the 28 infected sinuses/cysts (3.5%) recurred 10 years after surgery- it was cured with re-resection at the root of the helix. CONCLUSION: Treatment of infected preauricular sinuses/cysts remains controversial. Control of infection prior to definitive surgery is desirable, but not mandatory. Chronic preauricular abscesses can be managed by sinus/cyst excision and subcutaneous abscess curettage without resection of the abscess wall or overlying skin. This leads to consistent control and favorable cosmesis.


Assuntos
Abscesso/tratamento farmacológico , Abscesso/cirurgia , Anormalidades Craniofaciais/cirurgia , Cistos/cirurgia , Abscesso/complicações , Adolescente , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Anormalidades Craniofaciais/complicações , Cistos/complicações , Drenagem , Humanos , Lactente , Recém-Nascido , Recidiva
3.
BMJ Case Rep ; 12(8)2019 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-31471355

RESUMO

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Linfangiectasia Intestinal/diagnóstico , Linfedema/diagnóstico , Fenótipo , Vértebras Cervicais , Quilotórax/diagnóstico , Quilotórax/etiologia , Anormalidades Craniofaciais/complicações , Erros de Diagnóstico , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Linfangiectasia Intestinal/complicações , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/etiologia , Linfedema/complicações , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/etiologia
6.
Int J Pediatr Otorhinolaryngol ; 123: 202-205, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31132523

RESUMO

Craniodiaphysial dysplasia is an extremely rare genetic disorder characterized by a severe form of bone dysplasia and a distinctive facial dysmorphisms, as a result of a massive generalized hyperostosis and sclerosis, primarily involving the facial bones and the skull. We present a 10-years-old girl referred to an otolaryngology consultation with complaints of progressive hearing loss. The clinical aspects, pathogenesis and management of this disease are also review in this paper. Furthermore, we describe the first case of craniodiaphysial dysplasia rehabilitated with Bone-Anchored Hearing Aid, despite the concerns inherent to the involvement of the skull bone that characterizes the disease.


Assuntos
Prótese Ancorada no Osso , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/cirurgia , Auxiliares de Audição , Perda Auditiva/etiologia , Perda Auditiva/terapia , Osteocondrodisplasias/complicações , Osteocondrodisplasias/cirurgia , Criança , Feminino , Humanos
7.
Plast Reconstr Surg ; 143(5): 1447-1455, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31033827

RESUMO

BACKGROUND: The successful correction of craniofacial contour deformities remains a major challenge in plastic surgery. This article reviews important concepts and strategies for craniofacial fat grafting and presents a SOBRAPAR Hospital algorithm focused on achieving craniofacial contour symmetry as early as possible without compromising function. METHODS: Principle-based methods (i.e., anatomical facial fat compartments, fluid accommodation model, multistage site-specific craniofacial fat grafting, and structural fat-grafting technique) were itemized into an algorithm to aid in planning and selecting the best surgical approach (i.e., bone and/or soft tissue procedures) in order to obtain craniofacial contour symmetry. RESULTS: The treatment plan and choice of surgical technique implemented to address bone and/or or soft tissue deformities were determined by specific diagnosis, patient age at presentation, and functional status. Bony reconstruction in skeletally immature patients is reserved solely for those patients with functional issues. CONCLUSION: By adopting principle-based methods and fat compartment theory, we are able to achieve craniofacial contour symmetry and aesthetically pleasing outcomes without compromising function.


Assuntos
Tecido Adiposo/transplante , Anormalidades Craniofaciais/complicações , Assimetria Facial/cirurgia , Procedimentos Ortopédicos/métodos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Adulto , Fatores Etários , Criança , Pré-Escolar , Procedimentos Clínicos , Estética , Assimetria Facial/etiologia , Feminino , Humanos , Masculino , Resultado do Tratamento , Adulto Jovem
8.
J Autism Dev Disord ; 49(5): 2184-2202, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30783897

RESUMO

The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Anormalidades Craniofaciais/complicações , Facies , Fenótipo , Transtorno do Espectro Autista/classificação , Transtorno do Espectro Autista/complicações , Criança , Desenvolvimento Infantil , Pré-Escolar , Grupos Étnicos , Feminino , Humanos , Masculino
9.
Ann Otol Rhinol Laryngol ; 128(4): 360-364, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30607978

RESUMO

OBJECTIVES:: To describe a case of bilateral ear canal cholesteatomas in the setting of underlying first branchial cleft cyst anomalies and to review the pathophysiology underlying the development of external auditory canal cholesteatomas from branchial cleft cyst abnormalities. METHODS AND RESULTS:: We present a case study of a 61-year-old man who presented with chronic right-sided hearing loss and left-sided postauricular drainage. Clinical evaluation, radiographic work-up, and pathologic analysis confirmed a diagnosis of bilateral ear canal cholesteatoma in the setting of underlying first branchial cleft cyst anomalies. The patient's clinical course, surgical treatment, and management considerations are discussed here. CONCLUSION:: Ear canal cholesteatoma represents a rare clinical disease entity deserving a thorough initial assessment. Careful consideration of underlying diseases that result in chronic inflammation, such as branchial cleft lesions, should be included in the differential diagnosis of idiopathic canal cholesteatoma in the absence of prior otologic surgery or trauma.


Assuntos
Região Branquial/anormalidades , Colesteatoma , Anormalidades Craniofaciais , Meato Acústico Externo , Perda Auditiva Unilateral , Procedimentos Cirúrgicos Otológicos/métodos , Doenças Faríngeas , Região Branquial/cirurgia , Colesteatoma/diagnóstico , Colesteatoma/etiologia , Colesteatoma/fisiopatologia , Colesteatoma/cirurgia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/cirurgia , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/patologia , Perda Auditiva Unilateral/diagnóstico , Perda Auditiva Unilateral/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Faríngeas/complicações , Doenças Faríngeas/diagnóstico , Doenças Faríngeas/cirurgia , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
10.
Cranio ; 37(2): 136-139, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29448905

RESUMO

BACKGROUND: A sleep study of a 56-year old male with excessive daytime sleepiness demonstrated an AHI of 16.4hr-1 with 13% of total sleep time in REM sleep and a mean oxygen desaturation (SpO2) of 86%. CLINICAL PRESENTATION: On intra-oral examination, it was found that the patient had maxillary hypoplasia and bilateral torus mandibularis. A 3D cone-beam CT (CBCT) scan was taken, and 28 craniofacial parameters were measured. Surgical reduction of the mandibular tori followed by biomimetic oral appliance therapy (BOAT) was initiated. After 14 months, a post-treatment CBCT scan revealed that 70% of parameters measured had improved. Therefore, another sleep study was performed with no device in the mouth. This follow-up home sleep test demonstrated that the AHI fell to 5.3hr-1hr; with 27% REM sleep, and a mean SpO2 of 93% without any device in the mouth. CONCLUSION: These findings suggest that BOAT might be able to restore sleep in certain adult cases.


Assuntos
Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/cirurgia , Mandíbula/anormalidades , Mandíbula/cirurgia , Maxila/anormalidades , Procedimentos Cirúrgicos Bucais , Aparelhos Ortodônticos Funcionais , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/reabilitação , Sono , Tomografia Computadorizada de Feixe Cônico , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/terapia , Seguimentos , Humanos , Imagem Tridimensional , Masculino , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Pessoa de Meia-Idade , Oximetria , Apneia Obstrutiva do Sono/diagnóstico por imagem , Apneia Obstrutiva do Sono/cirurgia , Sono REM , Resultado do Tratamento
11.
J Ultrasound Med ; 38(3): 805-809, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30171631

RESUMO

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Four fetuses had holoprosencephaly. In 6 cases, the parents opted for termination of pregnancy. The remaining case resulted in premature delivery at 26 weeks due to severe polyhydramnios and early neonatal death. This report highlights the important role of ultrasound in the identification of agnathia-otocephaly complex in the first trimester of pregnancy.


Assuntos
Anormalidades Craniofaciais/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal/métodos , Aborto Eugênico , Adulto , Anormalidades Craniofaciais/complicações , Feminino , Holoprosencefalia/complicações , Humanos , Imagem Tridimensional , Lactente , Morte do Lactente , Recém-Nascido , Gravidez , Estudos Retrospectivos , Adulto Jovem
12.
Int J Pediatr Otorhinolaryngol ; 117: 57-60, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30579089

RESUMO

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Surdez/etiologia , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Deficiência Intelectual/etiologia , Unhas Malformadas/etiologia , Proteínas de Transporte/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/terapia , Surdez/terapia , Potenciais Evocados Auditivos , Feminino , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/terapia , Auxiliares de Audição , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/terapia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Proteínas de Membrana , Mutação , Unhas Malformadas/complicações , Unhas Malformadas/diagnóstico , Unhas Malformadas/terapia , Proteínas do Tecido Nervoso , Tomografia Computadorizada por Raios X
13.
Am J Otolaryngol ; 40(2): 257-259, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30554885

RESUMO

PURPOSE: To introduce a feasible approach for excising a preauricular sinus with abscess in children. MATERIALS AND METHODS: Patients under 14 years old with a preauricular sinus abscess and volunteering for surgery were involved in this study. RESULTS: Neither recurrence nor local deformity was found in these patients with a follow-up of 3 to 72 months. CONCLUSIONS: Excising the preauricular sinus with abscess in children is a feasible approach to treatment.


Assuntos
Abscesso/cirurgia , Anormalidades Craniofaciais/cirurgia , Drenagem/métodos , Pavilhão Auricular , Otopatias/cirurgia , Procedimentos Cirúrgicos Otológicos/métodos , Abscesso/etiologia , Adolescente , Criança , Pré-Escolar , Anormalidades Craniofaciais/complicações , Otopatias/etiologia , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
15.
Am J Med Genet A ; 176(8): 1773-1777, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30063093

RESUMO

Kleefstra Syndrome is a rare genetic disorder caused by mutations in EHMT1, Euchromatin Histone Methyl Transferase 1, or deletions encompassing EHMT1 on 9q34.3. Congenital heart defects are among the major findings in patients with 9q34.3 microdeletion/Kleefstra Syndrome along with recognizable facial appearance, developmental delay/intellectual disability including severely delayed or absent speech, hypotonia, seizures, behavioral and sleep abnormalities. Pulmonary hypertension (PH) is a rare condition associated with increased pulmonary artery and right heart pressures that can lead to right heart failure and death if untreated. PH can be idiopathic, heritable, or associated with co-morbid conditions including congenital heart disease (CHD), lung diseases and other metabolic disorders. Genetic factors play important roles in heritable and idiopathic PH development and are particularly relevant but more diverse in etiology in children. PH is also reported in some chromosomal disorders such as Down syndrome in which congenital heart defects are common; however, PH has rarely been reported in patients with 9q34.3 microdeletion/Kleefstra Syndrome. Here, we present three patients with 9q34.3 microdeletions with CHD and PH along with review of five similar cases reported in the literature and discuss the potential association of PH with Kleefstra syndrome.


Assuntos
Anormalidades Craniofaciais/genética , Cardiopatias Congênitas/genética , Histona-Lisina N-Metiltransferase/genética , Hipertensão Pulmonar/genética , Deficiência Intelectual/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/fisiopatologia , Síndrome de Down/genética , Síndrome de Down/fisiopatologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/fisiopatologia , Humanos , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/fisiopatologia , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Mutação , Diagnóstico Pré-Natal
17.
J Cell Sci ; 131(9)2018 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-29618634

RESUMO

Given the importance of connexin43 (Cx43, encoded by GJA1) function in the central nervous system and sensory organ processing, we proposed that it would also be crucial in auditory function. To that end, hearing was examined in two mouse models of oculodentodigital dysplasia that globally express GJA1 mutations resulting in mild or severe loss of Cx43 function. Although Cx43I130T/+ mutant mice, with ∼50% Cx43 channel function, did not have any hearing loss, Cx43G60S/+ mutant mice, with ∼20% Cx43 channel function, had severe hearing loss. There was no evidence of inner ear sensory hair cell loss, suggesting that the mechanism for Cx43-linked hearing loss lies downstream in the auditory pathway. Since evidence suggests that Cx26 function is essential for hearing and may be protective against noise-induced hearing loss, we challenged Cx43I130T/+ mice with a loud noise and found that they had a similar susceptibility to noise-induced hearing loss to that found in controls, suggesting that decreased Cx43 function does not sensitize the mice for environmentally induced hearing loss. Taken together, this study suggests that Cx43 plays an important role in baseline hearing and is essential for auditory processing.This article has an associated First Person interview with the first author of the paper.


Assuntos
Conexina 43/genética , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/genética , Anormalidades do Olho/complicações , Anormalidades do Olho/genética , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/genética , Perda Auditiva/etiologia , Perda Auditiva/genética , Mutação , Sindactilia/complicações , Sindactilia/genética , Anormalidades Dentárias/complicações , Anormalidades Dentárias/genética , Animais , Tronco Encefálico/metabolismo , Tronco Encefálico/patologia , Cóclea/metabolismo , Cóclea/patologia , Conexina 43/metabolismo , Anormalidades Craniofaciais/metabolismo , Anormalidades Craniofaciais/patologia , Modelos Animais de Doenças , Anormalidades do Olho/metabolismo , Anormalidades do Olho/patologia , Deformidades Congênitas do Pé/metabolismo , Deformidades Congênitas do Pé/patologia , Células Ciliadas Auditivas Internas/metabolismo , Células Ciliadas Auditivas Internas/patologia , Perda Auditiva/patologia , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Sindactilia/metabolismo , Sindactilia/patologia , Anormalidades Dentárias/metabolismo , Anormalidades Dentárias/patologia
18.
World Neurosurg ; 114: 1-3, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29510289

RESUMO

BACKGROUND: Skull base meningoencephaloceles are a rare condition, frequently secondary to traumatic or iatrogenic causes. Cerebrofacial arteriovenous metameric syndrome (CAMS) is characterized by the presence of retinal, facial, and cerebral arteriovenous malformations (AVMs) with metameric distribution. To our knowledge, this is the first reported case associating these 2 conditions. CASE DESCRIPTION: A 45-year-old woman previously diagnosed with CAMS type 2 presented with a long history of cerebrospinal fluid (CSF) rhinorrhea. Magnetic resonance imaging and digital subtraction angiography demonstrated a right-sided facial and orbital AVM extending posteriorly along the optic tract into the suprasellar cistern, and a right-sided meningoencephalocele protruding into the olfactory recess and ethmoid sinus. An extended endoscopic endonasal approach was performed to resect the meningoencephalocele and to repair the CSF leak without complications. CONCLUSIONS: We report the unusual association between the development of a meningoencephalocele and a metameric syndrome, and comment on clinical implications in the management of this patient.


Assuntos
Fístula Arteriovenosa/diagnóstico por imagem , Anormalidades Craniofaciais/diagnóstico por imagem , Encefalocele/diagnóstico por imagem , Osso Etmoide/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Meningocele/diagnóstico por imagem , Fístula Arteriovenosa/complicações , Fístula Arteriovenosa/cirurgia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/cirurgia , Encefalocele/complicações , Encefalocele/cirurgia , Osso Etmoide/cirurgia , Feminino , Humanos , Malformações Arteriovenosas Intracranianas/complicações , Malformações Arteriovenosas Intracranianas/cirurgia , Meningocele/complicações , Meningocele/cirurgia , Pessoa de Meia-Idade
19.
Medicine (Baltimore) ; 97(3): e9661, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29505006

RESUMO

RATIONALE: Sugammadex is a cylodextrin derivate that encapsulates steroidal neuromuscular blocker agents and is reported as a safe and well-tolerated drug. In this case report, we present a patient who developed grade 3 anaphylaxis just after sugammadex administration. PATIENT CONCERNS: A 22-year-old woman with diagnosis of Weaver syndrome was scheduled for bilateral mammoplasty and resection of unilateral accessory breast tissue resection. Anesthesia was induced and maintained by propofol, rocuronium, and remifentanil. At the end of the operation, sugammadex was administered and resulted in initially hypotension and bradycardia then the situation worsened by premature ventricular contraction and bigeminy with tachycardia, bronchospasm, and hypoxia. DIAGNOSIS: The Ring and Messmer clinical severity scale grade 3 anaphylactic reaction occurred just after sugammadex injection and the patient developed prolonged hypotension with recurrent cardiac arrhythmias in postoperative 12 hours. INTERVENTIONS: Treatment was initiated bolus injections of ephedrine, epinephrine, lidocaine, steroids and antihistaminic and continued with lidocaine bolus dosages and norepinephrine infusion for the postoperative period. OUTCOMES: The general condition of the patient improved to normal 3 hours after the sugammadex injection, and she was moved to the intensive care unit. At 2nd and 8th hours of intensive care unit follow-up, she developed premature ventricular contraction and bigeminy with the heart rate of 130 to 135 beats/min, which returned to sinus rhythm with 50 mg lidocaine. After that, no symptoms were observed and the patient was discharged to plastic surgery clinic at the following day. LESSONS: Sugammadex may result in life-treating anaphylactic reaction even in a patient who did not previously expose to drug. Moreover, prolonged cardiovascular collapse and cardiac arrhythmias may occur.


Assuntos
Anormalidades Múltiplas , Anafilaxia/induzido quimicamente , Hipotireoidismo Congênito , Anormalidades Craniofaciais , Deformidades Congênitas da Mão , Mamoplastia , gama-Ciclodextrinas/efeitos adversos , Hipotireoidismo Congênito/complicações , Anormalidades Craniofaciais/complicações , Feminino , Deformidades Congênitas da Mão/complicações , Humanos , Sugammadex , Adulto Jovem
20.
BMJ Case Rep ; 20182018 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-29444796

RESUMO

Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD (ANKH and GJA1) resulted negative in this patient. The peculiar clinical association and the negativity of genetic analyses allow to hypothesise that other genetic causes, not already known, are responsible for the combination of these pathological conditions. Future studies aim to identify the genetic causes of CMD, which will be important to further understand the pathogenetic mechanism of this rare and invalidating disease.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Hiperostose/diagnóstico , Hipertelorismo/diagnóstico , Adulto , Biópsia , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/patologia , Encéfalo/diagnóstico por imagem , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/patologia , Humanos , Hiperostose/complicações , Hiperostose/patologia , Hipertelorismo/complicações , Hipertelorismo/patologia , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/diagnóstico
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