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Frontiers in Medicine 2023Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder. And the main clinical manifestations include congenital hypotonic,...
BACKGROUND
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder. And the main clinical manifestations include congenital hypotonic, craniofacial malformation, developmental delay, and intellectual disability. Generally, such patients could be diagnosed beyond the infant period. Moreover, the delayed diagnosis might lead to a poor prognosis of rehabilitation therapy. However, neonatal obstructive sleep apnea (OSA) was seldom reported in Birk-Barel syndrome. Here, we reported a severe neonatal OSA case induced by Birk-Barel syndrome, resulting in an early diagnosis with improved outcomes by integrative management.
CASE PRESENTATION
The proband was a neonate presenting with recurrent severe OSA, with craniofacial deformity and congenital muscle hypotonia. Bronchoscopy examinations indicated a negative finding of pharyngeal and bronchus stenosis, while laryngomalacia had been observed. Whole exon sequencing demonstrated a c. 710C>A heterozygous variant resulting in a change of amino acid (p.A237D). This variant resulted in a change of amino acid sequence, affected protein features and changed splice site leading to a structural deformation in KCNK9 protein. This p.A237D variant also affected the crystal structure on the p.G129 site. Additionally, we used the mSCM tool to measure the free energy changes between wild-type and mutant protein, which indicated highly destabilizing (-2.622 kcal/mol).
CONCLUSION
This case report expands the understanding of Birk-Barel syndrome and indicates that OSA could serve as the on-set manifestation of Birk-Barel syndrome. This case emphasized genetic variants which were associated with severe neonatal OSA. Adequate WES assessment promotes early intervention and improves the prognosis of neurological disorders in young children.
PubMed: 37358997
DOI: 10.3389/fmed.2023.1180337 -
BMC Anesthesiology Jun 2023Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or...
BACKGROUND
Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or less severe extracranial anomalies. A variety of supraglottic malformations may be observed, including mandibular hypoplasia, mandibular asymmetry and micrognathia. Subglottic airway stenosis (SGS), which can cause difficulties in airway management during the perioperative period, is seldom emphasized in literature descriptions of Goldenhar syndrome, but can be clinically significant.
CASE PRESENTATION
An 18-year-old female with a history of Goldenhar syndrome presented for placement of a right mandibular distractor, right retroauricular dilator, and stage I transfer of a prefabricated expanded flap under general anesthesia. During tracheal intubation, the endotracheal tube (ETT) met resistance unexpectantly when attempting to pass through the glottis. Subsequently, we attempted the procedure with a smaller size ETT but again met resistance. With fiberoptic bronchoscope, we found that the whole segment of the trachea and bilateral bronchi were obvious narrow. Given the finding of unexpected severe airway stenosis and the associated risks with proceeding with the surgery, the operation was cancelled. We removed the ETT once the patient was fully awake.
CONCLUSIONS
Anesthesiologists should be aware of this clinical finding when evaluating the airway of a patient with Goldenhar syndrome. Coronal and sagittal measurements on computerized tomography (CT) and three-dimensional image reconstruction can be used to evaluate the degree of subglottic airway stenosis and measure the diameter of the trachea.
Topics: Female; Humans; Adolescent; Goldenhar Syndrome; Constriction, Pathologic; Intubation, Intratracheal; Trachea; Glottis
PubMed: 37328815
DOI: 10.1186/s12871-023-02179-w -
ORL; Journal For Oto-rhino-laryngology... 2023Free jejunal flap (FJF) reconstruction is a standard procedure for pharyngeal and cervical esophageal defects resulting from head and neck cancer resection. However,... (Observational Study)
Observational Study
INTRODUCTION
Free jejunal flap (FJF) reconstruction is a standard procedure for pharyngeal and cervical esophageal defects resulting from head and neck cancer resection. However, improvements in patients' quality of life after surgery require a further statistical approach.
METHODS
An observational, retrospective, multivariate analysis was designed to report the incidence of postoperative complications and their association with clinical factors in 101 patients who underwent total pharyngo-laryngo-esophagectomy and FJF reconstruction for head and neck cancer at a university hospital between January 2007 and December 2020.
RESULTS
Postoperative complications were observed in 69% of patients. In the reconstructive site, anastomotic leak, observed in 8% of patients was associated with vascular anastomosis in the external jugular vein system (age-adjusted odds ratio [OR]: 9.05, p = 0.044) and anastomotic stricture, observed in 11% of patients was associated with postoperative radiotherapy (age-adjusted OR: 12.60, p = 0.02). Cervical skin flap necrosis was the most common complication (34%) and was associated with vascular anastomosis on the right cervical side (age- and sex-adjusted OR: 4.00, p = 0.005).
CONCLUSION
Although FJF reconstruction is a useful procedure, 69% of patients suffer a postoperative complication. We suppose that anastomotic leak is related to the low blood flow resistance of the FJF and inadequate drainage of the external jugular venous system, and anastomotic stricture is related to the vulnerability of the intestinal tissue to radiation. Furthermore, we hypothesized that the location of the vascular anastomosis may affect the mesenteric location of the FJF and the dead space in the neck, leading to the development of cervical skin flap necrosis. These data contribute to increasing our knowledge about postoperative complications related to FJF reconstruction.
Topics: Humans; Esophagectomy; Anastomotic Leak; Retrospective Studies; Constriction, Pathologic; Quality of Life; Head and Neck Neoplasms; Postoperative Complications; Necrosis; Esophageal Neoplasms
PubMed: 37285823
DOI: 10.1159/000530920 -
Der Nervenarzt Aug 2023Persistent dysphagia is a major predictor of prolonged ventilation weaning and unsuccessful attempts at decannulation. Due to the high incidence of dysphagia in... (Review)
Review
Persistent dysphagia is a major predictor of prolonged ventilation weaning and unsuccessful attempts at decannulation. Due to the high incidence of dysphagia in tracheotomized patients, tracheal cannula management and dysphagia treatment must be coordinated. A central element of tracheal cannula management in dysphagia treatment is the establishment of physiological airflow. This enables voluntary clearing functions, such as coughing and throat clearing and significantly reduces aspiration. A distinction is made between spontaneous and staged decannulation pathways with expansion of cuff unblocking times and occlusion training. Other therapeutic measures include secretion and saliva management, cough function training with improvement of strength and sensitivity, pharyngeal electrical stimulation, adaptation of tracheal tubes to optimize respiratory and swallowing function, control and treatment of airway stenosis, and standardization of processes for quality assurance.
Topics: Humans; Deglutition Disorders; Tracheostomy; Ventilator Weaning; Respiration, Artificial; Stroke
PubMed: 37219566
DOI: 10.1007/s00115-023-01489-1 -
Journal of Infection and Chemotherapy :... Aug 2023"Bacteroides denticanum" is an anaerobic, non-spore-forming, gram-negative bacterium with a rod morphology typical of canine, ovine, and macropod oral flora. There is...
A mixed infection involving Bacteroides denticanum, Lactobacillus salivarius, and Streptococcus anginosus as causative agents of abscess around a pharyngo-esophageal anastomosis and acute vertebral osteomyelitis: Identification by ribosomal RNA sequencing of bacterial isolates.
"Bacteroides denticanum" is an anaerobic, non-spore-forming, gram-negative bacterium with a rod morphology typical of canine, ovine, and macropod oral flora. There is only one report of bloodstream infection caused by "B. denticanum" from a dog bite in human. Here, we report a case with no history of animal contact who developed an abscess caused by "B. denticanum" around a pharyngo-esophageal anastomosis after undergoing balloon dilatation procedure for stenosis following laryngectomy. The patient was a 73-year-old man with laryngeal cancer, esophageal cancer, hyperuricemia, dyslipidemia, and hypertension with a 4-week history of cervical pain, sore throat, and fever. Computed tomography showed fluid collection on the posterior pharyngeal wall. Matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) identified Bacteroides pyogenes, Lactobacillus salivarius, and Streptococcus anginosus from abscess aspiration. 16S ribosomal RNA sequencing re-identified the Bacteroides species as "B. denticanum". T2-weighted magnetic resonance images showed a high signal intensity adjacent to the anterior vertebral body of C3-C7. The diagnosis was peripharyngeal esophageal anastomotic abscess and acute vertebral osteomyelitis caused by "B. denticanum", L. salivarius, and S. anginosus. The patient was treated with sulbactam ampicillin intravenously for 14 days and then switched to oral amoxicillin with clavulanic acid for 6 weeks. To our knowledge, this is the first report of a human infection caused by "B. denticanum" without a history of animal contact. Despite remarkable advancements facilitated by MALDI-TOF MS in microbiological diagnosis, the accurate identification of novel, emerging, or uncommon microorganisms and comprehending their pathogenicity, suitable therapy, and follow up necessitate sophisticated molecular approaches.
Topics: Male; Humans; Animals; Dogs; Sheep; Aged; Streptococcus anginosus; RNA, Ribosomal; Ligilactobacillus salivarius; Abscess; Coinfection; Bacteroides; RNA, Ribosomal, 16S; Sequence Analysis, RNA; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Osteomyelitis; Anastomosis, Surgical
PubMed: 37100242
DOI: 10.1016/j.jiac.2023.04.017 -
International Journal of Oral and... Feb 2024This report describes the case of a middle-aged man who attempted suicide, which resulted in laryngeal webbing and pharyngeal stenosis. The patient was compromised at... (Review)
Review
This report describes the case of a middle-aged man who attempted suicide, which resulted in laryngeal webbing and pharyngeal stenosis. The patient was compromised at the level of respiration, necessitating a tracheostomy. Alimentation was also affected, and feeding was done through a gastrostomy tube. Unfortunately, the fibrous tissues were resistant to dilatation and laser treatment. Hence, he underwent a modified partial horizontal supraglottic laryngectomy (PHSL) and pharyngectomy to excise all of the fibrous tissues formed after the incident. The resulting defect was closed with a radial forearm flap (RFF), which is an innovative means of reconstruction after PHSL. The postoperative results were satisfactory. The patient could achieve full oral intake without aspiration at 10 days and the cannula was removed at 3 weeks. This surgical technique could be applied in supraglottic cancers with extension to the pharynx, with repair of the defect by RFF, thus preserving the function of the larynx.
Topics: Middle Aged; Male; Humans; Free Tissue Flaps; Pharyngectomy; Laryngectomy; Constriction, Pathologic; Pharynx; Pharyngeal Diseases; Pharyngeal Neoplasms
PubMed: 37088589
DOI: 10.1016/j.ijom.2023.03.015 -
Journal of Veterinary Internal Medicine 2023Aerodigestive diseases (AeroD) pathologically link respiratory and alimentary tracts. Dogs with respiratory signs lacking dysphagia, vomiting, or regurgitation typically...
BACKGROUND
Aerodigestive diseases (AeroD) pathologically link respiratory and alimentary tracts. Dogs with respiratory signs lacking dysphagia, vomiting, or regurgitation typically do not undergo diagnostic testing that identifies comorbid alimentary disease. A videofluoroscopic swallow study (VFSS) identifies defects in swallowing, reflux, and aspiration.
OBJECTIVES/HYPOTHESIS
We hypothesized that dogs with respiratory and no alimentary disease (RESP) would have significantly more abnormal VFSS metrics versus controls (CON). We hypothesized RESP dogs with pulmonary parenchymal disease would have more reflux and higher penetration-aspiration score (PAS) than those with airway disease.
ANIMALS
Client-owned dogs: RESP (n = 45) and CON (n = 15) groups.
METHODS
Prospectively, all dogs underwent VFSS. The RESP dogs had advanced respiratory diagnostic testing. Eight subjective and 3 objective VFSS metrics (pharyngeal constriction ratio [PCR], PAS, and esophageal transit time [ETT]) were assessed. Fisher's exact test compared differences between groups (presence or absence of VFSS abnormalities). The Mann-Whitney rank sum test was used to compare PCR and PAS.
RESULTS
Subjective VFSS abnormalities were present in 34/45 (75%) RESP and 2/15 (13%) CON dogs, with RESP dogs significantly more likely to have VFSS abnormalities (P = .01). No difference in PCR was found between groups. Pathologic PAS was more common in RESP than CON dogs (P = .03). The RESP dogs with airway disease had higher PAS than CON dogs (P = .01) but not RESP dogs with parenchymal disease (P = .25).
CONCLUSIONS
Most (75%) RESP dogs had VFSS abnormalities, emphasizing that AeroD are common. The VFSS has value in diagnostic evaluation of respiratory disease.
Topics: Dogs; Animals; Fluoroscopy; Deglutition Disorders; Deglutition; Respiratory Tract Diseases; Gastroesophageal Reflux; Dog Diseases
PubMed: 36951400
DOI: 10.1111/jvim.16685 -
Frontiers in Oncology 2023To assess the effectiveness and safety of transcatheter arterial sclerosing embolization (TASE) for the treatment of subglottic hemangiomas that did not respond...
PURPOSE
To assess the effectiveness and safety of transcatheter arterial sclerosing embolization (TASE) for the treatment of subglottic hemangiomas that did not respond appreciably to propranolol.
MATERIALS AND METHODS
This study was a retrospective analysis. Of the 101 patients with subglottic hemangiomas admitted to our center, 10 (4 male and 6 female) patients were included in this study. All these patients underwent arterial embolization using Pingyangmycin and polyvinyl alcohol particles (300-500 μm). All patients were examined 1 month after the last treatment and monthly thereafter.
RESULTS
TASE treatment was technically successful in all patients. Ten lesions were located in the subglottic region. The blood supply included the superior thyroid artery, brachiocephalic trunk, facial artery, and ascending pharyngeal arteries. The median maximal diameter of the hemangiomas significantly decreased from 8.5 mm before treatment to 2 mm after TASE (P <.05). The degree of laryngeal obstruction improved in all patients. No serious complications were noted. One patient developed fever postoperatively, and three patients had a mild cough.
CONCLUSIONS
For even subglottic hemangiomas with suboptimal efficacy of propranolol, TASE significantly reduced the size of hemangiomas with minimal adverse effects. It had a positive effect on the improvement of airway stenosis caused by subglottic hemangioma with poor effect of oral propranolol.
PubMed: 36937450
DOI: 10.3389/fonc.2023.1062510 -
Endoscopy Dec 2023
Topics: Humans; Hypopharynx; Constriction, Pathologic; Endoscopy; Iatrogenic Disease; Magnetic Phenomena
PubMed: 36894138
DOI: 10.1055/a-2029-6340 -
American Journal of Otolaryngology 2023Nasopharyngeal stenosis (NPS) is a rare and morbid complication following radiation therapy for nasopharyngeal carcinoma. This review provides an update on management... (Review)
Review
INTRODUCTION
Nasopharyngeal stenosis (NPS) is a rare and morbid complication following radiation therapy for nasopharyngeal carcinoma. This review provides an update on management and prognosis.
METHODS
A comprehensive PubMed review using the terms "nasopharyngeal stenosis," "choanal stenosis," and "acquired choanal stenosis" was performed.
RESULTS
Fourteen studies identified 59 patients who developed NPS after radiotherapy for NPC. 51 patients underwent endoscopic nasopharyngeal stenosis excision by cold technique (80-100% success). The remaining 8 underwent carbon dioxide (CO) laser excision with balloon dilation (40-60% success). Adjuvant therapies included postoperative topical nasal steroids in 35 patients. The need for revision was 62% in the balloon dilation group, vs 17% in the excision group (p-value <0.01).
CONCLUSION
When NPS occurs after radiation, primary excision of scarring is the most effective method of management with less need for revision surgery relative to balloon dilation.
Topics: Humans; Nasopharyngeal Carcinoma; Nasopharyngeal Neoplasms; Constriction, Pathologic; Nasopharynx; Nasopharyngeal Diseases; Treatment Outcome
PubMed: 36878173
DOI: 10.1016/j.amjoto.2023.103819