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Genome Biology and Evolution 2011Although the physiological relevance of retinoids and steroids in vertebrates is very well established, the origin and evolution of the genetic machineries implicated in...
Although the physiological relevance of retinoids and steroids in vertebrates is very well established, the origin and evolution of the genetic machineries implicated in their metabolic pathways is still very poorly understood. We investigated the evolution of these genetic networks by conducting an exhaustive survey of components of the retinoid and steroid pathways in the genome of the invertebrate chordate amphioxus (Branchiostoma floridae). Due to its phylogenetic position at the base of chordates, amphioxus is a very useful model to identify and study chordate versus vertebrate innovations, both on a morphological and a genomic level. We have characterized more than 220 amphioxus genes evolutionarily related to vertebrate components of the retinoid and steroid pathways and found that, globally, amphioxus has orthologs of most of the vertebrate components of these two pathways, with some very important exceptions. For example, we failed to identify a vertebrate-like machinery for retinoid storage, transport, and delivery in amphioxus and were also unable to characterize components of the adrenal steroid pathway in this invertebrate chordate. The absence of these genes from the amphioxus genome suggests that both an elaboration and a refinement of the retinoid and steroid pathways took place at the base of the vertebrate lineage. In stark contrast, we also identified massive amplifications in some amphioxus gene families, most extensively in the short-chain dehydrogenase/reductase superfamily, which, based on phylogenetic and genomic linkage analyses, were likely the result of duplications specific to the amphioxus lineage. In sum, this detailed characterization of genes implicated in retinoid and steroid signaling in amphioxus allows us not only to reconstruct an outline of these pathways in the ancestral chordate but also to discuss functional innovations in retinoid homeostasis and steroid-dependent regulation in both cephalochordate and vertebrate evolution.
Topics: Animals; Biological Evolution; Branchioma; Chordata, Nonvertebrate; Evolution, Molecular; Gene Duplication; Genome Components; Metabolic Networks and Pathways; Phylogeny; Retinoids; Signal Transduction; Steroids; Vertebrates
PubMed: 21856648
DOI: 10.1093/gbe/evr084 -
BMJ Case Reports Jan 2021The anatomy of the parapharyngeal space (PPS) is complex and the differential diagnosis of tumours in this area broad. Although primary tumours of the PPS account for...
The anatomy of the parapharyngeal space (PPS) is complex and the differential diagnosis of tumours in this area broad. Although primary tumours of the PPS account for only 0.5% of head and neck neoplasms and are benign lesions in 80% of the cases, the surgical management is crucial and needs specific planning and evaluation of CT and/or MRI scans. In literature, there are several ways to surgically deal with PPS tumours and due to location and differentiation, can reach from transparotid, submandibular transcervical and transoral approaches, extending in a mandibulotomy, further radiotherapy. Parapharyngeal cleft cysts are extremely rare and their management can be complex. We describe the presentation, the diagnosis and further management of a 71-year-old woman with a 6 cm first branchial cleft cyst in the PPS from puncture over emergency tracheostomy to elective excision via a combined transcervical/transparotid and transoral approach. We highlight the importance of the differential diagnosis and the and the correct clinical management of this rare entity.
Topics: Aged; Branchioma; Female; Humans; Magnetic Resonance Imaging; Punctures; Retrospective Studies; Tomography, X-Ray Computed; Tracheostomy
PubMed: 33436361
DOI: 10.1136/bcr-2020-238727 -
Acta Otorrinolaringologica Espanola 2011Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their... (Review)
Review
Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made.
Topics: Adult; Branchioma; Head and Neck Neoplasms; Humans; Male
PubMed: 20236623
DOI: 10.1016/j.otorri.2010.01.008 -
European Annals of Otorhinolaryngology,... Sep 2021
Topics: Branchioma; Humans; Rhytidoplasty; Robotic Surgical Procedures; Robotics; Thyroidectomy
PubMed: 34167921
DOI: 10.1016/j.anorl.2021.06.001 -
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 -
Romanian Journal of Morphology and... 2008Branchial cleft anomalies are developmental disorders of the neck. The aim of this study was to evaluate the data of our patients, who have been diagnosed and treated...
Branchial cleft anomalies are developmental disorders of the neck. The aim of this study was to evaluate the data of our patients, who have been diagnosed and treated for second branchial abnormalities in the last six years. We report our clinical experience in second branchial anomalies with a review of the literature. Our study is a retrospective one on a number of 23 patients hospitalized within 2001-2007 in ENT Clinic of Craiova for second branchial abnormalities in relation with age, gender, origin environment, clinical and paraclinical context in which the therapeutic decision was made, surgical procedures, post-surgical evolution. Among the anomalies of the second branchial arch, we encountered 10 (43.47%) patients with branchial cyst and 13 (56.52%) patients with branchial sinus. Twelve (52.17%) of the 23 patients were women and 11 (47.83%) were men; 9 (39.13%) patients were diagnosed and treated within the first age decade, seven (30.43%) within the second age decade, five (39.13%) within the third age decade and two (8.71%) in the fourth age decade. Histological examination of the lesions after excision established the diagnosis in all the cases. Second branchial arches anomalies are the most common branchial anomalies. Sinuses are more frequently than cysts and branchial fistulae are extremely rare. There is no gender predilection. The majority of patients (approximately 70%) were diagnosed and treated during their childhood. Treatment for these lesions is complete surgical excision for prevent recurrences.
Topics: Adolescent; Adult; Branchial Region; Branchioma; Female; Head and Neck Neoplasms; Humans; Male; Retrospective Studies
PubMed: 18273506
DOI: No ID Found -
Journal of Ayub Medical College,... 2019Salivary gland tumours are relatively uncommon but they present globally regardless of age. Most of these tumours are benign and involve the parotid gland. Though...
Salivary gland tumours are relatively uncommon but they present globally regardless of age. Most of these tumours are benign and involve the parotid gland. Though strictly confined to the parotid gland, Warthin's tumours can exceptionally present at an ectopic site of head and neck. Of particular significance is its striking similarity with a lymph node, an inclusion cyst, branchial cyst or a malignant mass, especially when it presents in the upper cervical region.
Topics: Adenolymphoma; Branchioma; Diagnosis, Differential; Female; Head and Neck Neoplasms; Humans; Middle Aged; Neck
PubMed: 31535528
DOI: No ID Found -
Acta Otorrinolaringologica Espanola 2012Superficial angiomyxoma (SA) is a rare benign cutaneous neoplasm first described by Allen et al in 1988. To the best of our knowledge, we report the first case of... (Review)
Review
Superficial angiomyxoma (SA) is a rare benign cutaneous neoplasm first described by Allen et al in 1988. To the best of our knowledge, we report the first case of superficial angiomyxoma located in the parotid region. We also stress the importance of distinguishing this entity from other lesions that may be involved in this location such as cutaneous neoplasms, parotid tumours or cysts. We emphasise the need to rule out the Carney complex, which has been associated with these tumours.
Topics: Antigens, CD34; Biomarkers, Tumor; Branchioma; Carney Complex; Diagnosis, Differential; Humans; Male; Middle Aged; Myxoma; Parotid Neoplasms; Skin Neoplasms; Tomography, X-Ray Computed
PubMed: 21295761
DOI: 10.1016/j.otorri.2010.11.014 -
Brazilian Journal of Otorhinolaryngology 2017
Topics: Branchioma; Child, Preschool; Female; Fistula; Head and Neck Neoplasms; Humans
PubMed: 26541234
DOI: 10.1016/j.bjorl.2015.07.017 -
The Canadian Veterinary Journal = La... Feb 1973
Topics: Animals; Branchioma; Female; Horse Diseases; Horses
PubMed: 4688877
DOI: No ID Found