The renal and branchial heart appendages of Sepia officinalis L. were investigated in order to elucidate a possible involvement of their excretory epithelia in hemocyanin metabolism. Immunocytochemical findings and tracer experiments indicate that after passing the barrier of ultrafiltration the hemocyanin molecules are taken up by the epithelial cells of the renal and branchial heart appendages and are subsequently carried back to the circulatory system, suggesting a mechanism of hemocyanin recycling. Apart from a function in maintaining constant hemocyanin levels, the present study indicates that the renal and branchial heart appendages are also sites of temporary hemocyanin storage.
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http://dx.doi.org/10.1007/s004410000254 | DOI Listing |
Indian J Otolaryngol Head Neck Surg
December 2024
Raipur Institute of Medical Sciences, Raipur, Chhattisgarh India.
A 17 year old male patient presented with bilateral preauricular sinus, right sided second branchial cleft sinus and bilateral hearing deficit. He has previous history of right congenital cataract surgery and right dacryocystorhinostomy at the age of 8 year. He was operated for branchial sinus.
View Article and Find Full Text PDFInt J Mol Sci
July 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Branchio-oto-renal (BOR) and branchio-otic (BO) syndromes are characterized by anomalies affecting the ears, often accompanied by hearing loss, as well as abnormalities in the branchial arches and renal system. These syndromes exhibit a broad spectrum of phenotypes and a complex genomic landscape, with significant contributions from the gene and the gene family, including and . Due to their diverse phenotypic presentations, which can overlap with other genetic syndromes, molecular genetic confirmation is essential.
View Article and Find Full Text PDFLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
July 2024
BMC Med Genomics
April 2024
Department of Otorhinolaryngology Head and Neck Surgery, the Second Affiliated Hospital of Xi'an Jiaotong University, 710000, Xi'an, China.
Objective: Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or cysts, as well as renal abnormalities.This study aims to identify the pathogenic variants by performing genetic testing on a family with Branchio-oto-renal /Branchio-otic (BO, OMIM#602,588) syndrome using whole-exome sequencing, and to explore possible pathogenic mechanisms.
Methods: The family spans 4 generations and consists of 9 individuals, including 4 affected by the BOR/BO syndrome.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
April 2024
Department of Otorhinolaryngology, Zhengzhou University First Affiliated Hospital, Zhengzhou 450052, China.
To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome The temporal CT findings and clinical features observations of 13 patients with Branchio-Oto-Renal Syndrome (BORS) or Branchio-Oto Syndrome(BOS) confirmed by genetic testing were retrospectively analyzed. There were 8 males and 5 females, aged from 1 to 39 years, with a median age of 9 years, in which 3 pairs (6 cases) were parent-child relationship. All of 13 cases had hearing loss and preauricular fistula, 11 cases accompanied by 2nd branchial fistulas.
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