ABSTRACT
The authors present a case of a 36-year-old woman with a recurrent throat foreign body sensation and persistent dysphagia. On physical examination, a polypoid mass was visible at the postcricoid region, mobile with swallowing. A barium swallowing test confirmed the diagnosis of Zenker's diverticulum. The patient underwent transoral CO2 laser microsurgery for excision of the pharyngeal pouch. At the four-month evaluation, the patient was remarkably asymptomatic and without evidence of recurrence. This clinical case illustrates in detail the endoscopic view of the pre and postoperative aspects of the pharyngeal pouch, showing a step-by-step transoral CO2 laser microsurgery technique, with video.
ABSTRACT
Introduction Rigid esophagoscopy (RE) has long been a part of otolaryngology practice. In the past decades, the procedure was less commonly performed due to the advances and availability of flexible endoscopic techniques. This study aims to describe the outcomes of RE performed to treat foreign body ingestion and to evaluate risk factors associated with postoperative complications. Methods Patients who underwent RE to treat foreign body ingestion in an otolaryngology emergency department of a Portuguese tertiary university hospital, between 2010 and 2020, were included. A total of 162 cases were analyzed, and data was collected retrospectively. Results The most common foreign bodies were meat bone (31.5%, n = 47), food impaction (28.8%, n = 43), and fish bone (19.5%, n = 29). The proximal esophagus was by far the most frequent location (80%, n = 118). Esophageal perforation occurred in 8% (13 patients), and there was a 2.5% (n = 4) mortality rate. The odds ratio of an esophageal perforation if the foreign body was completely or partially located outside the proximal esophagus was 4.67 times that of a foreign body exclusively in the proximal esophagus (OR = 4.67 [95% CI: 1.39-15.72]; p = 0.016; Fisher's exact test). Conclusion RE remains an effective and important technique in the management of ingested foreign bodies, particularly if endoscopic removal is unsuccessful. Foreign body location outside the proximal esophagus was associated with esophageal perforation.
ABSTRACT
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.
Subject(s)
Abnormalities, Multiple/genetics , Contracture/genetics , Growth Disorders/genetics , Histone-Lysine N-Methyltransferase/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Neurodevelopmental Disorders/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Adolescent , Child , Contracture/diagnosis , Contracture/pathology , Facies , Female , Growth Disorders/diagnosis , Growth Disorders/epidemiology , Growth Disorders/pathology , High-Throughput Nucleotide Sequencing , Humans , Hypertrichosis/congenital , Hypertrichosis/epidemiology , Hypertrichosis/genetics , Hypertrichosis/pathology , Intellectual Disability/diagnosis , Intellectual Disability/pathology , Male , Microcephaly/diagnosis , Microcephaly/pathology , Mutation/genetics , Portugal/epidemiologyABSTRACT
Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalance in offspring. Less than 3% of Down syndrome patients have duplication as a result of parental pericentric inversion of chromosome 21. We report a family with an apparently balanced pericentric inversion of chromosome 21. The proband, a 23-year-old female was referred for prenatal diagnosis at 16 weeks gestation because of increased nuchal translucency. She has a familial history of Down's syndrome and moderate intellectual disability, a personal history of four spontaneous abortions and learning difficulties. Peripheral blood and amniotic fluid samples were collected to perform proband's and fetus' cytogenetic analyses. Additionally, another six family members were evaluated and cytogenetic analysis was performed. Complementary FISH and MLPA studies were carried out. An apparent balanced chromosome 21 pericentric inversion was observed in four family members, two revealed a recombinant chromosome 21 with partial trisomy, and one a full trisomy 21 with an inverted chromosome 21. Array CGH analysis was performed in the mother and the brother's proband. MLPA and aCGH studies identified a deletion of about 1.7 Mb on the long arm of inverted chromosome 21q22.11. We believe the cause of the intellectual disability/learning difficulties observed in the members with the inversion is related to this deletion. The recombinant chromosome 21 has a partial trisomy including the DSCR with no deletion. The risk for carriers of having a child with multiple malformations/intellectual disability is about 30% depending on whether and how this rearrangement interferes with meiosis.
