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Revista Medica Del Instituto Mexicano... Oct 2022Chemical substances are important causes of gastrointestinal tract injuries and usually affect two groups of patients: children under 5 years of age and adults who...
INTRODUCTION
Chemical substances are important causes of gastrointestinal tract injuries and usually affect two groups of patients: children under 5 years of age and adults who attempt suicide. Its effects can range from necrosis to perforation of the digestive tract, which can affect the mouth, pharynx, esophagus and stomach. The main complication of accidental caustic ingestion is esophageal stricture. The frequency with which esophageal strictures appear ranges from 15% to 35% and is related to the degree of injury induced by the ingested agent. They may become symptomatic by the second or third week after a latent repair phase or, in other cases, months or years after ingestion. Different forms of treatment have been applied to treat caustic esophageal strictures, and endoscopic dilation is the first line, with successful results in 60% to 80% of patients. If these are not effective, surgical treatment for esophageal replacement is indicated.
CLINICAL CASE
A clinical case of a 48-year-old male patient with no chronic degenerative history is presented, who began suffering after accidental ingestion of caustic substance 4 months ago with dysphagia to liquids and solids, for which he is protocolized in our unit for definitive surgical resolution by gastric pull-up.
CONCLUSIONS
Although associated with high rates of anastomotic stricture, transhiatal esophagectomy and gastric pull-up with cervical anastomosis are safe procedures for the treatment of caustic esophageal strictures.
Topics: Child; Male; Adult; Humans; Child, Preschool; Middle Aged; Caustics; Constriction, Pathologic; Burns, Chemical; Esophageal Stenosis; Retrospective Studies
PubMed: 36283060
DOI: No ID Found -
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 -
Frontiers in Medicine 2016Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive...
BACKGROUND
Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system.
HISTORY AND SIGNS
A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion.
OUTCOME
At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia.
CONCLUSION
We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.
PubMed: 27965957
DOI: 10.3389/fmed.2016.00053 -
Medicine Jan 2021The diagnosis of type IV branchial cleft cyst (BCC) according to the Bailey classification is very challenging due to lack of specific clinical manifestations in the...
RATIONALE
The diagnosis of type IV branchial cleft cyst (BCC) according to the Bailey classification is very challenging due to lack of specific clinical manifestations in the early stage of the disease. Here, we present the transoral surgical route of endoscopic resection of second BCC in the parapharyngeal space (PPS) with good outcomes.
PATIENT CONCERNS
A 21-year-old man with a 1-year history of snoring complained about sore throat for 1 month and a fever that lasted for 3 days.
DIAGNOSES
On admission, physical examination revealed a temperature of 39°C, pain when swallowing accompanied with a lump sensation in the throat, and inability to open mouth more than 3 cm. Blood testing revealed 19.29 × 109 white blood cells (WBCs)/L and 14.94 × 109 neutrophils/L. A cervical computed tomography (CT) examination revealed a mass with liquid density of 6.2 × 4.0 × 7.7 cm3 in the left parapharyngeal space (PPS) and pharyngeal cavity stenosis. Postoperative pathology showed the existence of lymphoepithelial cysts (left PPS), which was in accordance with the diagnosis of BCC.
INTERVENTIONS
The patient was administered 1.5 g ceftazidime every 12 hours, anti-inflammatory drugs, and incision drainage was performed subsequently. Then, endoscopy-assisted resection of the left PPS was performed via the transoral route. We used low-temperature plasma and an 8-Fr Foley catheter with a water capsule during the surgery.
OUTCOMES
After resection of the mass, the patient's blood results returned to within the normal range and his symptoms improved. Five days postoperatively, the incision made in the palatine arch of the pharynx opened up by 1 cm, and eventually the wound and laceration healed. Normal oral eating was restored, and no complications were observed.
LESSONS
Magnetic resonance imaging (MRI), and color Doppler ultrasound can be useful to diagnose BCC in PPS, which rarely occurs in the clinical setting. Extended endoscopy provides a satisfactory surgical field for trans-oral resection allowing complete resection of the BCC without serious postoperative complications.
Topics: Branchioma; Endoscopy; Female; Humans; Male; Parapharyngeal Space; Young Adult
PubMed: 33546076
DOI: 10.1097/MD.0000000000024375 -
Journal of Gastrointestinal and Liver... Dec 2017Intubation failure (IF) occurs when an endoscopist is unable to progress via the oropharynx into the upper oesophagus.
BACKGROUND
Intubation failure (IF) occurs when an endoscopist is unable to progress via the oropharynx into the upper oesophagus.
AIM
To assess incidence and aetiology of IF and predictors of structural pharyngeal abnormalities in patients with IF.
METHODS
All gastroscopies (n=26,130) performed in our centre, between August 2010 and August 2016 were retrospectively reviewed. Barium radiology and repeat gastroscopy findings were evaluated for structural causes of IF. Patients were categorised into 'failure to tolerate' and 'failure to progress' based on endoscopy reports.
RESULTS
The incidence of IF was 0.95%. Rates of IF varied with endoscopist specialty (p=0.021), but not with patient age, sex or sedation dose. Among cases of IF, structural pharyngeal abnormalities were detected on barium radiology in 28.9%, consisting of cricopharyngeal hypertrophy and/or Zenker's diverticulum in 73.2%. 'Failure to progress' predicted pharyngeal pathology in 55.6%. Predictors of structural causes on barium radiology following IF included: age >/=65 (OR 4.0, 95% CI: 1.8-8.9, p<0.001); indication of dysphagia (OR 5.5, 95% CI: 2.5-11.8, p<0.001), and failure of endoscopic progression (OR 5.2, 95% CI: 2.3-12.0, p<0.001).
CONCLUSION
Patients with IF should be investigated owing to the high risk of underlying pathology, particularly if associated with age >/=65, dysphagia, and failure of endoscopic progression. We propose that IF rates of <1% could be used as a quality indicator in gastroscopy.
Topics: Aged; Barium Sulfate; Constriction, Pathologic; Contrast Media; Deglutition Disorders; Female; Follow-Up Studies; Gastroscopy; Humans; Incidence; Intubation, Intratracheal; Male; Middle Aged; Pharyngeal Diseases; Radiography; Retrospective Studies; Risk Factors; Tomography, X-Ray Computed; Treatment Failure; Zenker Diverticulum
PubMed: 29253046
DOI: 10.15403/jgld.2014.1121.264.isq -
Nature Communications Mar 2017Vasculogenic defects of great vessels (GVs) are a major cause of congenital cardiovascular diseases. However, genetic regulators of endothelial precursors in GV...
Vasculogenic defects of great vessels (GVs) are a major cause of congenital cardiovascular diseases. However, genetic regulators of endothelial precursors in GV vasculogenesis remain largely unknown. Here we show that Stat4, a transcription factor known for its regulatory role of pro-inflammatory signalling, promotes GV vasculogenesis in zebrafish. We find stat4 transcripts highly enriched in nkx2.5 endothelial precursors in the pharynx and demonstrate that genetic ablation of stat4 causes stenosis of pharyngeal arch arteries (PAAs) by suppressing PAAs 3-6 angioblast development. We further show that stat4 is a downstream target of nkx2.5 and that it autonomously promotes proliferation of endothelial precursors of the mesoderm. Mechanistically, stat4 regulates the emerging PAA angioblasts by inhibiting the expression of hdac3 and counteracting the effect of stat1a. Altogether, our study establishes a role for Stat4 in zebrafish great vessel development, and suggests that Stat4 may serve as a therapeutic target for GV defects.
Topics: Animals; Animals, Genetically Modified; Arteries; Branchial Region; Cardiovascular Diseases; Cell Differentiation; Cell Proliferation; Embryo, Nonmammalian; Endothelial Cells; Gene Expression Regulation, Developmental; Gene Knockdown Techniques; Histone Deacetylases; Homeobox Protein Nkx-2.5; Mesoderm; Models, Animal; Morphogenesis; Morpholinos; STAT4 Transcription Factor; Zebrafish; Zebrafish Proteins
PubMed: 28256502
DOI: 10.1038/ncomms14640 -
The American Journal of Case Reports Apr 2020BACKGROUND The prevalence of aberrant internal carotid artery (ICA) is extremely low in the general population. It commonly occurs in the neck. Close proximity of the... (Review)
Review
BACKGROUND The prevalence of aberrant internal carotid artery (ICA) is extremely low in the general population. It commonly occurs in the neck. Close proximity of the pulsatile submucosal mass of the aberrant ICA to the nasopharyngeal wall is dangerous. The complications include severe or fatal hemorrhage resulting from a missed diagnosis before intervention in this area, including tonsillectomy, adenoidectomy, eustachian tube dilation, oropharynx biopsy or resection, tracheal intubation, and neck surgery. We report the case of a 66-year-old woman who had a pulsatile mass of the kinked ICA in close proximity to the lateral nasopharyngeal wall, and provide a review of the literature. CASE REPORT The patient presented to our Ear, Nose, and Throat Clinic with persistent cough with phlegm. Endoscopic examination revealed an abnormal pulsatile mass in the lateral nasopharyngeal wall. Subsequent contrast-enhanced computed tomography angiography confirmed the presence of unilateral acute maxillary sinusitis, and a high-grade kinked submucosal mass of the ICA in the ipsilateral nasopharyngeal wall, concomitant with stenosis of the left ICA and left middle cerebral artery occlusion. CONCLUSIONS Pulsating and extremely high-grade kinking of the ICA in the lateral nasopharyngeal wall is a particularly dangerous condition. Clinicians must always consider the possibility of hemorrhage during surgery, especially in older women with arteriosclerosis. Otolaryngologists should perform comprehensive visual examinations before deciding on surgery or other medical interventions in the neck, to prevent severe or fatal hemorrhage as far as possible.
Topics: Aged; Carotid Artery, Internal; Carotid Stenosis; Computed Tomography Angiography; Cough; Female; Humans; Infarction, Middle Cerebral Artery; Nasopharynx
PubMed: 32282788
DOI: 10.12659/AJCR.921967 -
PloS One 2015Congenital heart valve defects in humans occur in approximately 2% of live births and are a major source of compromised cardiac function. In this study we demonstrate...
Congenital heart valve defects in humans occur in approximately 2% of live births and are a major source of compromised cardiac function. In this study we demonstrate that normal heart valve development and cardiac function are dependent upon Galnt1, the gene that encodes a member of the family of glycosyltransferases (GalNAc-Ts) responsible for the initiation of mucin-type O-glycosylation. In the adult mouse, compromised cardiac function that mimics human congenital heart disease, including aortic and pulmonary valve stenosis and regurgitation; altered ejection fraction; and cardiac dilation, was observed in Galnt1 null animals. The underlying phenotype is aberrant valve formation caused by increased cell proliferation within the outflow tract cushion of developing hearts, which is first detected at developmental stage E11.5. Developing valves from Galnt1 deficient animals displayed reduced levels of the proteases ADAMTS1 and ADAMTS5, decreased cleavage of the proteoglycan versican and increased levels of other extracellular matrix proteins. We also observed increased BMP and MAPK signaling. Taken together, the ablation of Galnt1 appears to disrupt the formation/remodeling of the extracellular matrix and alters conserved signaling pathways that regulate cell proliferation. Our study provides insight into the role of this conserved protein modification in cardiac valve development and may represent a new model for idiopathic valve disease.
Topics: ADAM Proteins; ADAMTS1 Protein; ADAMTS5 Protein; Animals; Cell Proliferation; Disease Models, Animal; Embryo, Mammalian; Extracellular Matrix Proteins; Heart Defects, Congenital; Heart Valves; Humans; MAP Kinase Signaling System; Mice; N-Acetylgalactosaminyltransferases; Polypeptide N-acetylgalactosaminyltransferase
PubMed: 25615642
DOI: 10.1371/journal.pone.0115861 -
Nagoya Journal of Medical Science Nov 2015Accelerated hyperfractionated radiotherapy was performed as treatment for patients with T1 glottic cancer, and its utility was evaluated based on treatment outcomes and...
Accelerated hyperfractionated radiotherapy was performed as treatment for patients with T1 glottic cancer, and its utility was evaluated based on treatment outcomes and adverse effects. Fifty-eight men who had undergone radiotherapy were retrospectively reviewed. Tumor classification was Tis in 4 patients, T1a in 38, and T1b in 16. Histological examination revealed squamous cell carcinoma in 55 patients. Travel time from home to hospital was 0-1 hour for 24 patients, 1-2 hours for 9, and >2 hours for 25. Laser vaporization was performed prior to radiotherapy in 38 patients, and 19 patients received concurrent chemotherapy with an agent such as S-1. Patients were irradiated twice daily using an irradiation container. Most patients received a dose of 1.5 Gy/fraction up to a total of 60 Gy. The median overall treatment time was 30 days, with a median observation period of 59.6 months. A complete response was observed in all patients. The 5-year overall survival, disease-free survival, and local control rates were 97.2%, 93.2%, and 97.8%, respectively. Although grade 3 pharyngeal mucositis was observed in 2 patients, there were no other grade 3 or higher acute adverse events. As late toxicity, grade 2 laryngeal edema and grade 1 laryngeal hemorrhage were observed in 1 patient each, but no serious events such as laryngeal necrosis or laryngeal stenosis were observed. In conclusion, this treatment method brings excellent outcome and will substantially reduce the treatment duration among patients who need to stay at nearby hotels while undergoing treatment at hospitals in rural areas.
PubMed: 26663937
DOI: No ID Found -
The American Journal of Case Reports Nov 2022BACKGROUND Transoral robotic surgery (TORS) is an effective and safe option for obstructive sleep apnea syndrome (OSAS) patients with isolated retrolingual obstruction,...
BACKGROUND Transoral robotic surgery (TORS) is an effective and safe option for obstructive sleep apnea syndrome (OSAS) patients with isolated retrolingual obstruction, as well as part of multilevel surgical approach in case of multilevel obstruction. Stenosis after TORS in OSAS patients is rarely described and no literature review has investigated this dramatic untoward event. CASE REPORT We report on a case of severe recalcitrant oropharyngeal stenosis after multilevel surgery with transoral robotic tongue base resection in an OSAS patient, leading to tracheotomy and gastrostomy dependence. Following the failure of numerous conservative therapeutic attempts, oropharyngeal patency was restored after extensive scar tissue removal through an open-neck approach, followed by a pharyngeal reconstruction with radial forearm free flap (RFFF). CONCLUSIONS Recalcitrant oropharyngeal stenosis is a dramatic complication that must be considered in OSAS patients submitted to TORS in a multilevel strategy and that is rarely described in the literature. A thorough review of the existing literature is presented to assess which factors are involved and the therapeutic strategies invoked in this scenario. The adoption of resection tools suited for robot-assisted surgery and the staging of TORS in case of multilevel surgery could decrease the risk of extensive scar formation. To date there is still no broad consensus on which therapeutic choice is the best for recalcitrant oropharyngeal stenosis. When minimally invasive treatments fail, a wide scar resection with a RFFF oropharyngeal reconstruction could be considered as a valuable option to restore the upper aerodigestive tract patency.
Topics: Male; Humans; Middle Aged; Robotic Surgical Procedures; Constriction, Pathologic; Cicatrix; Treatment Outcome; Sleep Apnea, Obstructive
PubMed: 36423243
DOI: 10.12659/AJCR.937123