scholarly journals BRANCHIO-OTO-RENAL (BOR) SYNDROME

2021 ◽  
pp. 18-24
Author(s):  
Eugene Abraham Priyanka
Keyword(s):  
Inner Ear ◽  
Protein Interactions ◽  
Kidney Failure ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Branchial Arch ◽  
Renal Anomalies ◽  
Bor Syndrome ◽  
Ear Malformations ◽  
Clinically Significant

Introduction. This work is devoted to the problem of embryology of the ears and kidneys. First ear and kidney abnormalities were reported in 1946 by Edith Potter’s association of crumpled and flattened ears with bilateral kidney agenesis. Ear malformations are associated with an increased frequency of clinically significant structural renal anomalies compared with the general population. These include specific multiple congenital anomaly syndromes, Townes-Brocks syndrome, branchio-oto-renal syndrome.The link can be explained by structural and functional similarities between tissues in the inner ear and in the kidney. Also, toxins that accumulate in kidney failure can damage nerves, including those in the inner ear.Goal. To study the causes, clinical manifestations of Branchio-oto-renal (BOR) syndrome. Materials and Methods. Review of modern and foreign literary sources; methods - description, analysis, abstracting.Results and discussion. Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. Some affected individuals originally reported to have SIX5 gene mutations were later found to have EYA1 gene mutations as well, and researchers suspect that the EYA1 gene mutations may be the actual cause of the condition in these people.The proteins produced from the EYA1, SIX1, and SIX5 genes play important roles in development before birth. The EYA1 protein interacts with several other proteins, including SIX1 and SIX5, to regulate the activity of genes involved in many aspects of embryonic development. Research suggests that these protein interactions are essential for the normal formation of many organs and tissues, including the second branchial arch, ears, and kidneys. Mutations in the EYA1, SIX1, or SIX5 gene may disrupt the proteins’ ability to interact with one another and regulate gene activity.Conclusions. The link between ear anomalies and kidney function can be explained by structural and functional similarities between tissues in the inner ear and in the kidney. Additionally, toxins that accumulate in kidney failure can damage nerves, including those in the inner ear.

Branchio-oto-renal syndrome

2015 ◽  
Author(s):  
Udo Vester ◽  
Stefanie Weber
Keyword(s):  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Renal Involvement ◽  
Gene Mutations ◽  
Branchial Arch ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Bor Syndrome ◽  
Ear Malformations ◽  
Ear Anomalies

Branchio-oto-renal (BOR) syndrome involves branchial arch fistulas or cysts, ear malformations with hearing loss, and anomalies of the kidney. BOR syndrome is inherited in an autosomal dominant trait and is caused in most cases by mutations in the EYA1 gene. A few families with gene mutations in SIX1 or SIX5 have also been described. The variability of clinical symptoms is wide. Renal involvement is observed in the majority of cases ranging from mild anomalies (e.g. dilation or duplication of the urinary tract) to severe hypodysplasia of the kidneys which eventually lead to renal failure. Branchio-otic syndrome (BOS) is characterized by branchial arch and ear anomalies without detectable renal pathology. BOR and BOS can be seen within the same family.

Second branchial cleft fistula in a child with genetically confirmed branchio-oto-renal (BOR) syndrome

2019 ◽  
Vol 8 (1) ◽  
pp. 60-66
Author(s):  
Agnieszka Remjasz ◽  
Pedro Clarós ◽  
Andrea Clarós
Keyword(s):  
Pediatric Population ◽  
Branchial Arch ◽  
Renal Anomalies ◽  
Fraser Syndrome ◽  
Bor Syndrome ◽  
Branchial Cleft Anomalies ◽  
History Of ◽  
Branchial Cleft ◽  
Branchial Fistula ◽  
Ear Anomalies

Branchial cleft anomalies constitute 32% to 45% of all neck pathologies in the pediatric population. These disorders may be a part of a branchio-oto-renal syndrome (Melnick-Fraser syndrome), characterized by branchial arch abnormalities, preauricular pits, hearing impairment, and various types of renal anomalies. Usually, the treatment of a branchial fistula does not necessarily require extensive diagnostics. However, in patients with a congenital branchial cleft fistula associated with ear anomalies recognized during a physical examination, and history of hearing loss or similar findings in other relatives, the additional analysis should be carried out to eliminate the possibility of BOR syndrome. The aim of this study is to present a rare case of a male patient presenting complete second branchial cleft fistula, diagnosed as having BOR syndrome.

Respiratory tract damage with bocavirus infection in children

2020 ◽  
Vol 19 (2) ◽  
pp. 14-18
Author(s):  
E. V. Sharipova ◽  
I. V. Babachenko ◽  
M. A. Shcherbatyh
Keyword(s):  
Respiratory Tract ◽  
Lower Respiratory Tract ◽  
Clinical Manifestations ◽  
Respiratory Viruses ◽  
Community Acquired Pneumonia ◽  
Human Bocavirus ◽  
Long Time ◽  
Clinically Significant ◽  
Tract Infections ◽  
Tract Damage

Long time the main pathogens associated with the development of community-acquired pneumonia were bacteria. However, in recent years in the Russian Federation, like all over the world, the view of the damage of lower respiratory tract changed, including a unique approach to community-acquired pneumonia as a bacterial infection, and respiratory viruses have become seen as a direct cause of lower respiratory tract damage, or as part of a viral-bacterial co-infection. These studies became possible since the widespread introduction of PCR techniques in the clinical setting, identification of respiratory viruses has increased and new microorganisms such, one as human bocavirus have been discovered. Objective: to study the features of respiratory tract damage in acute bocavirus infection in children of different ages. Materials and methods: A retrospective analysis of 97 medical hospital documentation of children with acute bocavirus infection, detected confirmed by PCR in nasopharyngeal aspirate. Results: In this work, it was shown that human bocavirus spread throughout the year with an increase in the incidence of clinically significant forms in the autumnwinter period, including during the period of an increase in the incidence of influenza. HBoV infection requiring hospitals is most significant in the first three years of life. In 74.2% of hospitalized children, bocavirus infection occurs with lower respiratory tract infections in the form of bronchitis — 77.8%, pneumonia — 28.9% and rarely bronchiolitis and is complicated by the development of respiratory failure in 28.9% of cases. Changes in the blood test are non-specific, and the level of C-reactive protein in children with various clinical manifestations of HBoV infection generally does not exceed 50 mg / l. An x-ray of the chest organs does not objectively reflect the existing volume and nature of the inflammatory process in the lungs.

scholarly journals Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lu Cao ◽  
Ruixue Zhang ◽  
Liang Yong ◽  
Shirui Chen ◽  
Hui Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sequence Alignment ◽  
Multiple Sequence Alignment ◽  
Molecular Genetic ◽  
Family Members ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Mendelian Inheritance ◽  
Chinese Family ◽  
Multiple Sequence

Abstract Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations. Results A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Variation, Online Mendelian Inheritance in Man, ClinVar, or 1000 Genomes Project databases. All in silico predictors suggested that the observed substitution mutation was deleterious. Furthermore, multiple sequence alignment of SASH1 revealed that the p.S510N mutation was highly conserved during evolution. In addition, we reviewed the previously reported DUH-related gene mutations in SASH1 and ABCB6. Conclusion Although the affected family members had identical mutations, differences in the clinical manifestations of these family members were observed, which reveals the complexity of the phenotype-influencing factors in DUH. Our findings reveal the mutation responsible for DUH in this family and broaden the mutational spectrum of the SASH1 gene.

Acute exudative paraneoplastic polymorphous vitelliform maculopathy in a patient with thymoma, myasthenia gravis, and polymyositis

2021 ◽  
pp. 112067212199404
Author(s):  
He Yu ◽  
Xinyu Ma ◽  
Nianting Tong ◽  
Zhanyu Zhou ◽  
Yu Zhang
Keyword(s):  
Myasthenia Gravis ◽  
Medical Center ◽  
Postoperative Radiotherapy ◽  
Clinical Manifestations ◽  
Subretinal Fluid ◽  
Metastatic Tumor ◽  
The Body ◽  
Pleural Thickening ◽  
History Of ◽  
Clinically Significant

Importance: This is the first reported case of acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM) in a patient with thymoma, accompanied by myasthenia gravis (MG) and polymyositis. Objective: To examine the pathogenesis of ocular disease in a patient with yolk-like fundus lesions and thymoma, MG, and polymyositis throughout the body based on clinical manifestations, diagnosis, differential diagnosis, and genetic testing to determine the appropriate treatment course. Design, setting, and participants: We describe a 63-year-old woman who presented to our tertiary medical center with a 3-month history of reduced visual acuity in both eyes. Concurrent fundoscopy revealed a 2.0 × 1.7-mm, unifocal, yellow, round vitelliform lesion in the macular region, surrounded by multifocal, shallow, yellow-white pockets of subretinal fluid. The patient’s medical history included thymoma with thymectomy treatment, combined with pericardiectomy and postoperative radiotherapy (20 years prior), followed by a diagnosis of MG with suspect thymic association (15 years prior). Three years prior, the patient had been diagnosed with polymyositis related to paraneoplastic syndrome; 1 year prior, she had been examined for pleural thickening due to suspected metastatic tumor. Results: On her most recent follow-up visit at 3 months after initial diagnosis, the patient was stable with no clinically significant progression in ocular or systemic conditions.

scholarly journals Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xi Luo ◽  
Xiang-mei Zhang ◽  
Liu-song Wu ◽  
Jindong Chen ◽  
Yan Chen
Keyword(s):  
Genetic Counseling ◽  
Peripheral Blood ◽  
Clinical Phenotype ◽  
Globin Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Guizhou Province ◽  
Globin Genes ◽  
Phenotype Correlation ◽  
Chi Square

Abstract Background α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype–phenotype correlation in this subpopulation Methods A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. PCR-DNA sequencing and Gap-PCR were used to identify the thalassemia gene mutations. Chi-square tests and one-way analysis of variance (ANOVA) were used to statistically analyze the data. Results We found that the frequency of α-globin triplication in Guizhou province was 0.772% (59/7644). Genotypically, the αααanti4.2/αα accounted for 0.523% (40/7644), the αααanti3.7/αα for 0.235% (18/7644), and the αααanti3.7/–SEA for 0.013% (1/7644). The αααanti4.2/αα is more prevalent than the αααanti3.7/αα in Guizhou. In addition, the frequency of the HKαα/αα (that by GAP-PCR is like αααanti4.2/-α3.7) was 0.235% (18/7644). Ethnically, the Tujia group presented the highest prevalence (2.47%) of α-globin triplication. Geographically, the highest frequency of the α-globin triplication was identified in Qiannan region (2.23%). Of the triplicated α-globin cases, 5 coinherited with heterozygote β-thalassemia and presented various clinical manifestations of anemia. Conclusions These data will be used to update the Chinese triplicated α-globin thalassemia database and provide insights into the pathogenesis of thalassemia. These findings will be helpful for the diagnosis of thalassemia and future genetic counseling in those regions.

scholarly journals De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

2018 ◽  
Vol 137 (6-7) ◽  
pp. 459-470 ◽  
Author(s):  
Isabelle Schrauwen ◽  
Elina Kari ◽  
Jacob Mattox ◽  
Lorida Llaci ◽  
Joanna Smeeton ◽  
...  
Keyword(s):  
Inner Ear ◽  
De Novo ◽  
Inner Ear Malformations ◽  
Ear Malformations

A new cochlear implant electrode with a “cork”-type stopper for inner ear malformations

2014 ◽  
Vol 41 (4) ◽  
pp. 331-336 ◽  
Author(s):  
Levent Sennaroğlu ◽  
Gamze Atay ◽  
Münir Demir Bajin
Keyword(s):  
Cochlear Implant ◽  
Inner Ear ◽  
Inner Ear Malformations ◽  
Ear Malformations

Clinical and laboratory features of the course of obstructive pyelonephritis in a patient with quantitative kidney abnormality

2021 ◽  
Vol 11 (2) ◽  
pp. 183-190
Author(s):  
Suleyman I. Suleymanov ◽  
Zieratsho A. Kadyrov ◽  
Oganes E. Dilanyan ◽  
Vladimir S. Ramishvili ◽  
Vladislav V. Musohranov ◽  
...  
Keyword(s):  
Renal Failure ◽  
Inflammatory Process ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Upper Urinary Tract ◽  
Diagnostic Screening ◽  
Complete Obliteration ◽  
Complicated Course ◽  
Clinically Significant ◽  
Obstructive Pyelonephritis

The kidney duplication is the most common abnormality of the urinary system. In most cases, this condition is an accidental finding on prenatal ultrasound or can be diagnosed when the first clinical manifestations occur. Abnormalities of the upper urinary tract can be detected when examining a patient with arterial hypertension, proteinuria, or renal failure. As an example of the complicated course of the inflammatory process in a patient with quantitative kidney abnormality, a clinical observation of the course of obstructive pyelonephritis against the background of complete obliteration of the lower third of the ureter with the formation of terminal changes in the upper half of the doubled kidney, which led to renovascular hypertension and clinically significant renal failure, is presented. The article describes the clinical manifestations of the disease, laboratory and diagnostic screening, as well as the stages of surgical treatment in a multidisciplinary hospital.

Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

2020 ◽  
pp. 9-16
Author(s):  
Sergey Armakov
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Doppler Imaging ◽  
Comprehensive Treatment ◽  
Impaired Hearing ◽  
Temporal Bones ◽  
The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

Sign in / Sign up

Export Citation Format

Share Document