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1.
Am J Med Genet A ; 173(8): 2158-2165, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28577347

RESUMO

22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than half (13/24) of the patients had significant radiographic findings, including persistent cavum septi pellucidi and/or cavum vergae (8/24), aberrant cortical veins (6/24), polymicrogyria or cortical dysplasia (4/24), inner ear deformities (3/24), hypoplastic internal carotid artery (2/24), and hypoplastic cerebellum (1/24). These findings reveal the types and frequencies of brain malformations in this case series, and suggest that the prevalence of neuroanatomical abnormalities in 22q11.2DS may be underestimated. Understanding indications for imaging and frequently encountered brain malformations will result in early diagnosis and intervention in an effort to optimize patient outcomes.


Assuntos
Anormalidades Múltiplas/fisiopatologia , Cerebelo/anormalidades , Síndrome de DiGeorge/fisiopatologia , Malformações do Desenvolvimento Cortical/fisiopatologia , Malformações do Sistema Nervoso/fisiopatologia , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/genética , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/genética
2.
Am J Perinatol ; 33(6): 531-4, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26906186

RESUMO

Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care.


Assuntos
Processo Alveolar/anormalidades , Fenda Labial/diagnóstico por imagem , Fissura Palatina/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Processo Alveolar/cirurgia , Transplante Ósseo/métodos , Fenda Labial/embriologia , Fenda Labial/cirurgia , Fissura Palatina/embriologia , Fissura Palatina/cirurgia , Diagnóstico Diferencial , Feminino , Gengiva/transplante , Humanos , Lactente , Lábio/anatomia & histologia , Palato/anatomia & histologia , Gravidez , Ultrassonografia Pré-Natal
3.
Ann Otol Rhinol Laryngol ; 122(5): 344-52, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23815053

RESUMO

OBJECTIVES: Bioluminescent imaging has emerged as a powerful tool for monitoring the pathological process of infections in animals. The purpose of this study was to harness this new tool for objective assessment of acute otitis media (AOM) in animals with and without antibiotic interventions. METHODS: Thirty-six healthy chinchillas, free of middle ear infections, were randomly divided into a control group and a group that received amoxicillin treatment. Bioluminescent Streptococcus pneumoniae (Xen 10) was injected into the epitympanic bullae of chinchillas (50 colony-forming units each) for induction of AOM. The infectious process of Xen 10 in the bullae of living animals with and without antibiotic interventions was monitored in real time with bioluminescence equipment. RESULTS: A dynamic change of bioluminescent signals in the bullae of chinchillas from days 1 to 14 was observed after Xen 10 injection. Amoxicillin treatment reduced the bioluminescent signals in the bullae of chinchillas compared with controls. The AOM persisted for 14 days, and middle ear effusion for 6 weeks, in the control animals, whereas AOM lasted for 2 days, and effusion for 6 to 12 days, in the antibiotic-treated animals. CONCLUSIONS: Bioluminescent imaging provides an innovative method for assessment of the bacterial loads in the middle ear of chinchillas in a real-time manner and is very useful for objective evaluation of the efficacy of therapeutic interventions.


Assuntos
Carga Bacteriana/métodos , Modelos Animais de Doenças , Orelha Média/microbiologia , Medições Luminescentes , Otite Média/microbiologia , Infecções Pneumocócicas/patologia , Amoxicilina/administração & dosagem , Animais , Antibacterianos/administração & dosagem , Chinchila , Medições Luminescentes/métodos , Otite Média/tratamento farmacológico , Infecções Pneumocócicas/tratamento farmacológico
4.
Ann Otol Rhinol Laryngol ; 121(7): 478-84, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22844868

RESUMO

OBJECTIVES: We examined surgical outcomes in children with cervicofacial nontuberculous mycobacterial lymphadenitis and attempted to identify predictors of complications. METHODS: A retrospective chart review from 2 tertiary pediatric centers was used to identify .11 presentation or operative variables (age at surgery, gender, symptom duration, pain, violaceous skin changes, skin breakdown, fluctuance, purified protein derivative positivity, operative procedure, use of nerve integrity monitoring, and use of skin flap advancement) and to compare these to 5 postoperative complications (facial nerve dysfunction [paresis or paralysis], poor scarring, recurrence, wound infection, and wound dehiscence without infection). RESULTS: The 45 patients analyzed for presentation or operative variables (28 female, 17 male; average age, 31.2 months) typically presented with painless masses averaging 8.2 weeks in duration, along with violaceous skin changes in 29 of the 45 cases (64%) and skin breakdown in 9 cases (20%). The surgical procedures included parotidectomy with or without selective lymphadenectomy in 38 of the 45 cases (84%) and lymphadenectomy alone in 7 cases (16%). Skin resection and cervicofacial advancement flap reconstruction was performed in 20 cases (44%). Nerve integrity monitoring was utilized in 32 cases (71%). In the 44 patients analyzed for postoperative complications, we found facial nerve paresis in 14 (31.8%), poor scarring in 9 (20.5%), wound infection in 6 (13.6%), recurrence in 4 (9.1%), and facial nerve paralysis in 2 (4.5%). Nine of the 14 cases (64.3%) of initial facial nerve paresis resolved. At final follow-up, facial nerve paresis persisted in 5 of the 14 children (35.7%) with initial postoperative paresis and in 1 of the 2 children (50.0%) with initial postoperative paralysis. Facial nerve paralysis persisted in the other child with initial postoperative paralysis. Overall, 6 of these 7 patients (85.7%) with persistent facial nerve dysfunction had follow-up of less than 1 month. All transient and permanent facial nerve dysfunction was in the distribution of the marginal mandibular nerve only. No statistically significant predictors of complications were identified. CONCLUSIONS: We report acceptable but not insignificant rates of marginal mandibular distribution facial nerve injury, poor scarring, wound infection, and recurrence following resection of cervicofacial nontuberculous mycobacterial lymphadenitis in children that must be discussed with patients and parents before operation. No presentation or operative variables predicted the complications.


Assuntos
Linfadenite/microbiologia , Linfadenite/cirurgia , Infecções por Mycobacterium não Tuberculosas/cirurgia , Complicações Pós-Operatórias , Pré-Escolar , Cicatriz/etiologia , Procedimentos Cirúrgicos Dermatológicos , Paralisia Facial/etiologia , Feminino , Humanos , Excisão de Linfonodo , Masculino , Glândula Parótida/cirurgia , Recidiva , Estudos Retrospectivos , Fatores Sexuais , Retalhos Cirúrgicos
5.
Ann Otol Rhinol Laryngol ; 120(3): 150-4, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21510139

RESUMO

OBJECTIVES: Arthrogryposis is a rare, congenital condition characterized by joint contractures of the extremities with muscle weakness and fibrosis. The otolaryngological manifestations of this disorder may include stridor, chronic aspiration, and Pierre Robin sequence, among others. Prior reports of vocal fold immobility associated with arthrogryposis have attributed it to recurrent laryngeal nerve paralysis, rather than to cricoarytenoid joint restriction. The objective of this study was to determine whether children with arthrogryposis and vocal fold immobility demonstrated laryngeal electromyography (L-EMG) findings consistent with recurrent laryngeal nerve paralysis or with cricoarytenoid joint restriction. METHODS: A retrospective, institutional chart review of children with otolaryngological manifestations of arthrogryposis was performed; 6 children were identified. Three patients had vocal fold immobility documented by flexible laryngoscopy. These 3 children were prospectively evaluated with direct laryngoscopy and intraoperative L-EMG. RESULTS: The 3 children with arthrogryposis and vocal fold dysfunction had laryngoscopy-confirmed vocal fold immobility or significant restriction of motion. The intraoperative L-EMG tracings obtained from all 3 patients demonstrated motor unit action potentials without evidence of denervation. CONCLUSIONS: This series, albeit small, suggests that the vocal fold dysfunction related to arthrogryposis may be attributable to cricoarytenoid joint restriction or poor laryngeal coordination, rather than to nerve paralysis, as originally postulated.


Assuntos
Artrogripose/fisiopatologia , Eletromiografia , Músculos Laríngeos/fisiopatologia , Sons Respiratórios/fisiopatologia , Potenciais de Ação/fisiologia , Cartilagem Aritenoide/fisiopatologia , Criança , Cartilagem Cricoide/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Cuidados Intraoperatórios , Laringoscopia , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Paralisia das Pregas Vocais/fisiopatologia
7.
Otolaryngol Head Neck Surg ; 140(6): 902-6, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19467412

RESUMO

OBJECTIVE: Determine the rate of hoarseness in children with cleft palate (CP). Understand the relationship between velopharyngeal insufficiency (VPI) and hoarseness in children with CP. STUDY DESIGN: Case series with chart review. SUBJECTS AND METHODS: Retrospective chart review of 185 patients with CP treated by a Children's Hospital Cleft Team and born between 1991 and 2001. RESULTS: Of total patients, 54.1 percent were male and 45.9 percent female. All types of CP were represented. The overall rate of hoarseness was 20.0 percent at age 3-4 and 18.4 percent at age 6-7. The presence of VPI did not correlate with the presence of hoarseness or dysphonia. VPI decreased when comparing age 3-4 (58.4%) with age 6-7 (30.2%, P < 0.001), but the hoarseness rates did not change, 20.8 percent at age 3-4 and 19.5 percent at age 6-7 (P = 0.56). CONCLUSION: Patients with CP are thought to have increased risk of voice disturbances due to compensatory articulation mechanisms used when a patient has VPI. However, this study of 185 patients with CP showed no relationship between VPI and hoarseness. The overall rate of hoarseness of this population with CP was within the reported range for the normal population of children. These findings suggest that the theory that VPI causes hoarseness due to compensatory speech mechanisms may be incorrect.


Assuntos
Fissura Palatina/complicações , Rouquidão/etiologia , Insuficiência Velofaríngea/complicações , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Feminino , Rouquidão/epidemiologia , Humanos , Incidência , Masculino , Estudos Retrospectivos , Fatores de Risco
8.
Otolaryngol Head Neck Surg ; 140(2): 183-6, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19201285

RESUMO

OBJECTIVE: To investigate whether children with less than 48 hours of localized symptoms of deep neck infection are less likely to have an abscess on CT scan. STUDY DESIGN: Case series. SUBJECTS AND METHODS: The charts of children seen in a tertiary children's hospital for deep neck infections between 2000 and 2007 were reviewed. RESULTS: Of 179 children identified, 167 (93.3%) underwent a CT scan of the neck of which 102 (61.1%) were positive for abscess. There was no significant difference in the rate of abscess on CT between children with less than 48 hours of localizing symptoms and 48 or more hours of symptoms at 58.1 percent and 58.3 percent, respectively (P = 0.98). Furthermore, there was no significant difference in age, gender, C-reactive protein levels, disease location, or length of stay between children with and without abscess on CT. White blood cell counts were significantly higher in the abscess group (P = 0.01); however, the median white blood cell count in both groups was above normal. CONCLUSION: Because duration of symptoms does not predict finding of abscess on CT, it is appropriate to obtain a CT scan upon presentation in all children with symptoms concerning for neck abscess.


Assuntos
Abscesso/complicações , Abscesso/diagnóstico por imagem , Pescoço , Infecções Estreptocócicas/complicações , Infecções Estreptocócicas/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Abscesso/terapia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Cervicalgia/microbiologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Infecções Estreptocócicas/terapia , Fatores de Tempo
9.
Otolaryngol Head Neck Surg ; 161(2): 348-351, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30935277

RESUMO

This study aimed to compare outcomes of concomitant palatoplasty and sphincter pharyngoplasty with pharyngeal flap and sphincter pharyngoplasty alone for the treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. Thirty-one cases were identified for inclusion in the study. Patients were separated into 3 surgical groups: combined palatoplasty and sphincter pharyngoplasty (n = 11), pharyngeal flap (n = 7), and sphincter pharyngoplasty (n = 13). Outcome measures included perceptual speech analyses, surgical complications, and revision rates. There were no differences in preoperative speech analysis scores (P = .31). The combined palatoplasty and sphincter pharyngoplasty procedure had similar speech outcomes compared to pharyngeal flap, and both were significantly better than sphincter pharyngoplasty alone. Complication rates (P = .61) and the need for revision surgery (P = .25) were similar among all 3 groups. Concomitant palatoplasty and sphincter pharyngoplasty may be an alternative treatment for velopharyngeal insufficiency in children with 22q11.2 deletion syndrome.


Assuntos
Síndrome de DiGeorge/complicações , Palato Mole/cirurgia , Faringe/cirurgia , Insuficiência Velofaríngea/etiologia , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
10.
Int J Pediatr Otorhinolaryngol ; 123: 1-4, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31048222

RESUMO

OBJECTIVES: To describe three new cases of vincristine-induced vocal cord paresis or paralysis (VIVCPP) in children and to review the diagnosis and management of this neuropathy. METHODS: Retrospective case series. Diagnosis of VIVCPP was confirmed by laryngoscopy in all children. RESULTS: Less than 20 cases of VIVCPP in children have been previously documented in the literature. Of the three children in our case series, one had unilateral vincristine-induced vocal cord paresis and two had bilateral VIVCPP. The first two patients each had two separate episodes of paresis, lasting 4 months and 1 month respectively. In the last patient, whose medical course was complicated by many additional factors, vocal cord paralysis persisted for over three years. CONCLUSIONS: Clinicians must evaluate children with suspected VIVCPP for concomitant symptoms and signs of vincristine neuropathies and examine the vocal cords via laryngoscopy. The effects of vincristine neurotoxicity can be waxing and waning, demonstrate delayed onset and persist well beyond drug cessation. Further studies are needed to identify effective neuroprotectants and delineate appropriate vincristine dosing in patients with vincristine neurotoxicity and cancer.


Assuntos
Antineoplásicos Fitogênicos/efeitos adversos , Vincristina/efeitos adversos , Paralisia das Pregas Vocais/induzido quimicamente , Adolescente , Pré-Escolar , Feminino , Humanos , Laringoscopia , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Estudos Retrospectivos , Paralisia das Pregas Vocais/diagnóstico por imagem , Prega Vocal/diagnóstico por imagem
11.
Laryngoscope ; 118(1): 120-3, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17975504

RESUMO

OBJECTIVES/HYPOTHESIS: To observe rates of gastrostomy tube (g-tube) placement in Pierre Robin Sequence (PRS) and to determine whether relieving airway obstruction solves feeding difficulties. STUDY DESIGN: All PRS referrals to a multidisciplinary cleft team for children at a tertiary pediatric hospital from January 1988 to June 2006 were retrospectively reviewed. METHODS: Patients were analyzed for occurrence of g-tube placement, neurologic disorders, and airway intervention including tracheotomy and mandibular distraction osteogenesis. RESULTS: Sixty-seven PRS patients were divided into two categories: 51 (76.1%) isolated PRS (iPRS) and 16 (23.9%) with additional disorders and syndromes (sPRS). Patients were then placed into two subgroups: those who received early airway intervention and those who received late or no airway intervention. Of the 51 iPRS children, 12 (23.5%) received early airway intervention, none of whom required a g-tube. There were 39 (76.5%) children who received late or no airway intervention, and 5 (12.8%) of these required g-tube placement. Of the 16 sPRS children, 8 (50%) received early airway intervention, and 7 (87.5%) of these still required a g-tube. Of the remaining 8 (50%) sPRS patients who received late or no airway intervention, 5 (62.5%) required a g-tube. CONCLUSION: In children with iPRS, feeding difficulties can be resolved with early airway intervention. Delaying airway intervention may necessitate feeding assistance because all of the iPRS children who required a g-tube fell into this category. The presence of additional disorders and syndromes further complicates treatment because most of the sPRS children required g-tubes regardless of airway intervention.


Assuntos
Obstrução das Vias Respiratórias/prevenção & controle , Transtornos da Alimentação e da Ingestão de Alimentos/prevenção & controle , Síndrome de Pierre Robin/complicações , Criança , Nutrição Enteral/instrumentação , Seguimentos , Gastrostomia/instrumentação , Humanos , Lactente , Intubação Gastrointestinal/instrumentação , Mandíbula/cirurgia , Osteogênese por Distração/métodos , Estudos Retrospectivos , Fatores de Tempo , Traqueotomia
12.
Otolaryngol Head Neck Surg ; 138(6): 782-7, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18503855

RESUMO

OBJECTIVE: To describe the interventions required for successful airway management in children with Pierre Robin Sequence (PRS). STUDY DESIGN: Case series. SUBJECTS AND METHODS: The records of both a cleft and craniofacial clinic and a pediatric otolaryngology clinic were searched, and all children with PRS were identified. Data concerning feeding interventions, airway interventions, and comorbid conditions were extracted. RESULTS: Seventy-four cases of PRS were identified. Thirty-eight of the 74 children required airway intervention other than prone positioning. Fourteen of these 38 were managed nonsurgically with nasopharyngeal airway and/or short-term endotracheal intubation, whereas the remaining 24 required surgical intervention. Eighteen of the 24 underwent distraction osteogenesis of the mandible, one underwent tracheostomy, and five underwent tracheostomy followed by eventual distraction. CONCLUSION: In our series, over 50 percent of children with PRS required an airway intervention. These were both nonsurgical and surgical. As otolaryngologists, we must be prepared for the challenges children with PRS may present and the interventions that may be necessary to successfully manage these difficult airways.


Assuntos
Obstrução das Vias Respiratórias/cirurgia , Osteogênese por Distração , Síndrome de Pierre Robin/cirurgia , Obstrução das Vias Respiratórias/etiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Intubação Intratraqueal , Masculino , Mandíbula/cirurgia , Síndrome de Pierre Robin/complicações , Decúbito Ventral , Estudos Retrospectivos , Traqueostomia , Resultado do Tratamento
13.
Int J Pediatr Otorhinolaryngol ; 72(9): 1365-9, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18602167

RESUMO

OBJECTIVE: The aim of this study is to determine whether cross-infection occurs between infections in the sinuses and lower airways in Cystic Fibrosis patients, and to determine whether the infections begin in the sinuses before spreading to the lungs. METHODS: Retrospective study of pediatric Cystic Fibrosis patients who underwent simultaneous sinus surgery and bronchial washings. The results of the cultures were reviewed to determine if the same organisms colonized both the sinuses and lower airways. RESULTS: Staphylococcus aureus (Staph. Aureus) was found in 40.7% of the sinuses but only 33.3% of the lower airways. One patient had Staph. Aureus in the lower airway but not the sinuses. Pseudomonas, Hemophilus Influenza, and Moraxella showed similar patterns: multiple instances of positive sinus cultures and negative bronchial cultures, but only a small number of cases with positive lower airway cultures and negative sinus cultures. CONCLUSION: The data showed that as patients age, they are more likely to have infections in both upper and lower airways, but infections start in the upper airways at a younger age. In many cases, organisms were cultured from sinuses in patients who had negative lower airway cultures. In only a few instances, organisms grew in the lower airways and not the sinuses. In most cases, the bacteria that caused sinus infections at a young age caused the lung infections in older patients. This is the paper to show that bacteria spread from the sinuses to the lungs to cause infections in Cystic Fibrosis patients, and not vice-versa.


Assuntos
Bactérias/isolamento & purificação , Fibrose Cística/microbiologia , Pulmão/microbiologia , Seios Paranasais/microbiologia , Adolescente , Adulto , Criança , Pré-Escolar , Fibrose Cística/cirurgia , Humanos , Estudos Retrospectivos , Staphylococcus aureus/isolamento & purificação
14.
Int J Pediatr Otorhinolaryngol ; 109: 17-20, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29728175

RESUMO

BACKGROUND: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation. OBJECTIVE: To analyze voice and vocal fold abnormalities in patients with 22q11.2 deletion by examining voice, not speech. METHODS: This is a case series with chart review from 2009 to 2016. Records of both a velocardiofacial syndrome (VCF) clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, speech, and voice characteristics were recorded along with surgical history. Main outcomes included voice characteristics based on speech therapy assessment, along with vocal fold or laryngeal abnormalities. Co-morbidities and surgical history were also recorded. RESULTS: 109 patients were identified with 22q11.2 deletion by genetic testing. Eighteen percent (n = 20) displayed a vocal fold or laryngeal abnormality, either congenital or iatrogenic. The most common congenital abnormalities were laryngeal web (n = 10) and subglottic stenosis (n = 7). The most common iatrogenic abnormality was paralyzed left vocal fold (n = 4). Perceptual analysis by speech therapy showed 65% (n = 71) with a voice within normal limits while 17% (n = 19) were not within normal limits. Of the 20 patients with a vocal fold abnormality, 15% (n = 3) presented a voice within normal limits, while 65% (n = 13) were not within normal limits. Of the 19 patients with a voice outside normal limits, 68% (n = 13) had a diagnosed vocal fold abnormality. Sixteen percent (n = 3) of these patients had an abnormal voice as a result of other issues. CONCLUSION: Out of 109 patients with 22q11.2 deletion, 18% displayed a laryngeal abnormality and 17% had abnormal vocal quality. This suggests that voice and vocal fold abnormalities are important to consider in this population. Distinguishing between speech and voice abnormalities in patients with 22q11.2 deletion can help ensure appropriate intervention.


Assuntos
Síndrome de DiGeorge/complicações , Laringoestenose/congênito , Laringe/anormalidades , Paralisia das Pregas Vocais/etiologia , Prega Vocal/anormalidades , Distúrbios da Voz/etiologia , Adolescente , Criança , Feminino , Humanos , Doença Iatrogênica , Masculino , Qualidade da Voz
15.
Cureus ; 10(3): e2287, 2018 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-31431829

RESUMO

This abstract was presented at the American Academy of Otolaryngology-Head and Neck Surgery Annual Meeting, Orlando, FL, September 2014 with the abstract published (Neumann C, Thompson D, and Sidman J; Assisted reproduction is not associated with increased risk of head and neck defects; Otolaryngology-Head and Neck Surgery; Vol 151, Issue 1, supplement, 2014). Objectives - Compare the rate of head and neck anomalies between children conceived via artificial reproductive technology (ART) versus those conceived via natural methods. - Determine the risk of congenital head and neck abnormalities associated with ART. Study design A retrospective chart review cross-sectional study from 2004-2014 of all patients admitted to the neonatal intensive care unit (NICU) at a tertiary pediatric hospital. Results A total of 14,857 charts were examined; 2,288 patients were conceived via ART, while 12,569 patients were conceived via natural methods. There were 8,022 males and 6,637 females. There were 40 patients born with defects via ART, while there were 681 patients born with defects via natural conception. The total occurrence of congenital malformations was higher for patients conceived naturally versus those conceived with artificial reproduction (5.41% vs. 1.74%). The odds ratio was 0.31 with a 95% CI of 0.23 to 0.43 and a P-value of < 0.0001; the relative risk of having any one of the head and neck defects with ART was 1.04 with a 95% CI of 1.03 to 1.05 and a P-value < 0.0001. Conclusion There appears to be no increased risk of congenital head and neck defects in children conceived via ART versus those conceived naturally.

16.
Cureus ; 10(1): e2097, 2018 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-29568718

RESUMO

Objective To describe the sleep and speech outcomes in patients with cleft palate who underwent superior adenoidectomy. Subjectives and methods This is a case series with chart review of patients with diagnoses of cleft palate and sleep disordered breathing (SDB), obstructive sleep apnea (OSA) or nasal obstruction treated with superior adenoidectomy from 1991-2015 at the Children's Hospital of Minnesota. Postoperative clinic notes documented the changes in symptoms following surgery. All speech outcomes were recorded. Results Fifty patients (23 females, 27 males) aged 11 months to 17 years were included. Forty-six patients (92%) had improvement of sleep symptoms including snoring, nighttime restlessness, and witnessed apnea events, following superior adenoidectomy. Forty-two of the 46 patients (91%) had stable speech postoperatively with either no development or no worsening of velopharyngeal insufficiency (VPI). Conclusion Superior adenoidectomy is an effective procedure to alleviate symptoms of sleep disordered breathing in patients with cleft palate without significantly affecting speech.

17.
Laryngoscope Investig Otolaryngol ; 3(2): 78-81, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29721538

RESUMO

OBJECTIVE: Describe the factors that exacerbate upper airway obstructions (UAOs) in neonates. STUDY DESIGN: Retrospective chart review. SETTING: Pediatric tertiary care hospital. SUBJECTS AND METHODS: All neonates hospitalized between 1/1/2010 and 12/31/2014 diagnosed with either: 1) laryngomalacia, 2) Pierre Robin sequence, or 3) vocal cord paralysis were included in this study. Patient charts were reviewed to determine factors that exacerbated symptoms of airway obstruction. The independent variable was patient diagnosis, and the outcome measure was exacerbating factors. RESULTS: In patients with laryngomalacia (n = 31), 41.9% worsened with agitation, 38.7% worsened with feeding, 16.1% worsened with positioning, 0.0% worsened during sleep, and 25.8% had no aggravating factors. In Pierre-Robin patients (n = 31), 48.4% worsened with agitation, 16.1% worsened with feeding, 61.3% worsened with positional changes, 0.0% worsened during sleep, and 12.9% had no aggravating factors. In vocal cord paralysis patients (n = 25), 72.0% worsened with agitation, 8.0% worsened with feeding, 20.0% worsened with positional changes, 4.0% worsened during sleep, and 24.0% had no aggravating factors. CONCLUSION: Airway obstruction was not reliably exacerbated during sleep for any of the diagnoses studied in this review. Our findings show that agitation exacerbates airway obstruction in most patients with vocal cord paralysis, and positioning exacerbates airway obstruction in the majority of patients with PRS. Aggravating factors in laryngomalacia are variable. These findings question the utility of polysomnography as a diagnostic tool for hospitalized neonates with these conditions. LEVEL OF EVIDENCE: 4.

18.
Int J Pediatr Otorhinolaryngol ; 97: 154-156, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28483227

RESUMO

OBJECTIVE: The aim of this case study is to demonstrate that post-operative complication rates of sublingual gland excision for treatment of ranulas are equal to or less than alternative methods with a lower recurrence rate than other surgical methods. METHODS: This was a retrospective review of pediatric patients from 2004 to 2015 at Children's Hospitals and Clinics of Minnesota. Sixteen ranulas and 6 plunging ranulas were treated via sublingual gland excision during this time frame. Data examined included age, gender, scans of the lesion, location and size of lesion, surgical procedures, complications, and recurrence. RESULTS: There were 22 patients who met criteria. Only one patient had recurrence of the lesion (4.5%). One patient reported lateral tongue numbness post-operatively, and one patient had a hypoglossal nerve injury, with tongue deviation upon exam. Both of these complications were temporary and resolved within months of the procedure. CONCLUSION: Although sublingual gland excision is a definitive treatment for ranulas, many surgeons still utilize other methods such as marsupialization, drainage of the cyst, or excision of ranula alone as the primary method of treatment due to concerns about complications. This retrospective study demonstrates that excision of the sublingual gland is both a safe and effective method of treatment for ranulas.


Assuntos
Procedimentos Cirúrgicos Bucais/métodos , Complicações Pós-Operatórias/epidemiologia , Rânula/cirurgia , Glândula Sublingual/cirurgia , Adolescente , Criança , Pré-Escolar , Drenagem , Feminino , Hospitais Pediátricos , Humanos , Lactente , Masculino , Minnesota , Recidiva Local de Neoplasia/cirurgia , Procedimentos Cirúrgicos Bucais/efeitos adversos , Complicações Pós-Operatórias/cirurgia , Estudos Retrospectivos , Glândula Sublingual/patologia , Resultado do Tratamento
19.
Laryngoscope ; 116(1): 136-9, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16481826

RESUMO

OBJECTIVE: The objective of this study was to determine the rates of tracheotomy tube placement and subsequent decannulation in all admissions to a single-site, tertiary newborn intensive care unit (NICU). METHODS: Records from total admissions to a tertiary single-site NICU between January 1, 1991, and December 31, 2002, were retrospectively analyzed. Long-term medical follow-up for this cohort included data through September 1, 2003. All patients were analyzed for occurrence of tracheotomy tube placement and decannulation, airway procedures, and comorbidities. RESULTS: There were 10,428 total NICU admissions during the 12-year study period. Seventy-eight (0.7%) of these patients underwent tracheotomy tube placement. Sixty-six of these 78 (85%) infants survived. None of the 12 deaths were related to tracheotomy tube placement. The most common indications for tracheotomy tube placement were subglottic stenosis (32%), chronic lung disease (28%), craniofacial abnormality (14%), chronic ventilator dependency (11%), and a neurologic disorder (8%). Decannulation was achieved in 41 of 66 (62%) survivors. Patients who failed decannulation had a major neurologic disorder, underlying pulmonary disorder, or both. CONCLUSION: A baseline tracheotomy tube placement rate of 0.7% was observed in this single-site tertiary NICU setting. Decannulation was accomplished early in life in two thirds of the surviving infants. Those infants failing decannulation had either severe underlying pulmonary or neurologic disorders.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/cirurgia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Intubação Intratraqueal/estatística & dados numéricos , Traqueotomia/estatística & dados numéricos , Obstrução das Vias Respiratórias/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Recém-Nascido , Intubação Intratraqueal/métodos , Masculino , Prontuários Médicos/estatística & dados numéricos , Minnesota , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Taxa de Sobrevida , Traqueotomia/métodos , Resultado do Tratamento
20.
Otolaryngol Head Neck Surg ; 154(5): 804-5, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-27130944

RESUMO

Rosenfeld et al in their recent article "Office Insertion of Tympanostomy Tubes without Anesthesia in Young Children" describe using a "papoose board for restraint" while performing a procedure resulting in severe pain for a significant number of children: a myringotomy and tube insertion. In 2016, it is inappropriate to perform elective painful procedures in children without treatment to avoid or minimize pain. We strongly disagree with the authors' conclusion "that office insertion of tubes in young children is a feasible alternative to general anesthesia for caregivers and clinicians who are comfortable with this choice."


Assuntos
Ventilação da Orelha Média , Dor , Anestesia Geral , Criança , Humanos , Lactente , Resultado do Tratamento
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