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Biochemical and Biophysical Research... Sep 2024Although research on hearing loss, including the identification of causative genes, has become increasingly active, the pathogenic mechanism of hearing loss remains...
Although research on hearing loss, including the identification of causative genes, has become increasingly active, the pathogenic mechanism of hearing loss remains unclear. One of the reasons for this is that the structure of the inner ear of mice, which is commonly used as a genetically modified animal model, is too small and complex, making it difficult to accurately capture abnormalities and dynamic changes in vivo. Especially, Reissner's membrane is a very important structure that separates the perilymph and endolymph of the inner ear. This malformation or damage induces abnormalities in hearing and balance. Until now, imaging analyses, such as magnetic resonance imaging (MRI) and computed tomography, are performed to investigate the inner ear structure in vivo; however, it has been difficult to analyze the small inner ear structure of mice owing to resolution. Therefore, there is an urgent need to develop an image analysis method that can accurately capture the structure of the inner ear of mice including Reissner's membrane, both dynamically and statically. This study aimed to investigate whether it is possible to accurately capture the structure (e.g., Reissner's membrane) and abnormalities of the inner ear of mice using an 11.7 T MRI. By combining two types of MRI methods, in vivo and ex vivo, we succeeded for the first time in capturing the fine structure of the normal mouse inner ear, such as the Reissner's membrane, and inflammatory lesions of otitis media mouse models in detail and accurately. In the future, we believe that understanding the state of Reissner's membrane during living conditions will greatly contribute to the development of research on inner ear issues, such as hearing loss.
Topics: Animals; Magnetic Resonance Imaging; Mice; Ear, Inner; Mice, Inbred C57BL
PubMed: 38820624
DOI: 10.1016/j.bbrc.2024.150153 -
A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.Frontiers in Genetics 2024Primary ciliary dyskinesia (PCD) is a rare heterogeneous disease caused by abnormalities in motile cilia. In this case report, we first analyzed the clinical and...
Primary ciliary dyskinesia (PCD) is a rare heterogeneous disease caused by abnormalities in motile cilia. In this case report, we first analyzed the clinical and genetic data of a proband who was suspected of having PCD on the basis of her clinical and radiological findings. Whole-exome sequencing was performed, and a variant in the gene was identified in the proband. Sanger sequencing was used for validation of variants in the proband, her sister, her daughter and her parents. Finally, the phenotypic features of the patient were analyzed, and the current literature was reviewed to better understand the gene variants in PCD related to hearing loss and the clinical manifestations of the variant in PCD. The chief clinical symptoms of this proband included gradual mixed hearing loss, otitis media, anosmia, sinusitis, recurrent cough and infertility. Her DNA sequencing revealed a novel homozygous T to C transition at position 1321 within exon 3 of according to genetic testing results. This variant had never been reported before. The homozygous variant resulted in an amino acid substitution of tryptophan by arginine at position 441 (p.Trp441Arg). The same variant was also found in the proband's sister, and a heterozygous pathogenic variant was identified among immediate family members, including the proband's daughter and parents. A literature review showed that 16 pathogenic variants in have been reported. Hearing loss had only been observed in patients with the RSPH4A (c.921+3_6delAAGT) splice site mutation, and the specific type of hearing loss was not described.
PubMed: 38818043
DOI: 10.3389/fgene.2024.1364476 -
BMJ Open May 2024Radical mastoidectomy is a common procedure for chronic suppurative otitis media, typically performed under a microscope. The smooth operation is closely related to the...
Efficacy and safety of intravenous tranexamic acid in microscopic modified radical mastoidectomy: a study protocol for a prospective, randomised, double-blind controlled trial.
INTRODUCTION
Radical mastoidectomy is a common procedure for chronic suppurative otitis media, typically performed under a microscope. The smooth operation is closely related to the clarity of the operative field. Our trial is designed to investigate whether the intravenous administration of tranexamic acid (TXA) can improve the clarity of the operative field, reduce the operative time, and increase surgeon satisfaction.
METHODS AND ANALYSIS
This study is a prospective, randomised, double-blinded, controlled trial that aims to investigate the effects of TXA on patients with otitis media. The trial will include patients between the ages of 18 and 65 who will be randomly assigned to either the TXA group or the control group. In the TXA group, patients will receive 1 g of TXA diluted to 20 mL of normal saline before anaesthesia induction while the control group will receive 20 mL of normal saline. The primary outcome measure will be the Modena Bleeding Score, which will assess the clarity of the surgical field. Secondary outcomes will include the surgeon's satisfaction with surgical conditions, operation time, laboratory measurements (prothrombin time, activated partial thromboplastin time, fibrin degradation products, D-dimer) and levels of inflammatory factors (such as IL-6) at 24 hours postoperatively. In addition, the incidence of general adverse reactions such as postoperative nausea, vomiting and dizziness; serious adverse events such as arterial and venous thromboembolism, myocardial infarction and epilepsy within 90 days will be compared between the two groups.
ETHICS AND DISSEMINATION
The protocol was approved by the Ethics Committee of Peking University People's Hospital (2021PHB173-001), on 19 July 2021. The trial results will be submitted for publication in a peer-reviewed journal.
TRIAL REGISTRATION NUMBER
ChiCTR2100049183.
Topics: Humans; Tranexamic Acid; Double-Blind Method; Antifibrinolytic Agents; Prospective Studies; Adult; Administration, Intravenous; Mastoidectomy; Middle Aged; Female; Male; Adolescent; Otitis Media, Suppurative; Young Adult; Randomized Controlled Trials as Topic; Operative Time; Aged
PubMed: 38806427
DOI: 10.1136/bmjopen-2024-087062 -
Zhongguo Dang Dai Er Ke Za Zhi =... May 2024To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome (APDS) and enhance understanding of the disease.
OBJECTIVES
To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome (APDS) and enhance understanding of the disease.
METHODS
A retrospective analysis was conducted on clinical data of 7 APDS children admitted to Hunan Provincial People's Hospital from January 2019 to August 2023.
RESULTS
Among the 7 children (4 males, 3 females), the median age of onset was 30 months, and the median age at diagnosis was 101 months. Recurrent respiratory tract infections, hepatosplenomegaly, and multiple lymphadenopathy were observed in all 7 cases. Sepsis was observed in 5 cases, otitis media and multiple caries were observed in 3 cases, and diarrhea and joint pain were observed in 2 cases. Lymphoma and systemic lupus erythematosus were observed in 1 case each. Fiberoptic bronchoscopy was performed in 4 cases, revealing scattered nodular protrusions in the bronchial lumen. The most common respiratory pathogen was (4 cases). Six patients had a p.E1021K missense mutation, and one had a p.434-475del splice site mutation.
CONCLUSIONS
p.E1021K is the most common mutation site in APDS children. Children who present with one or more of the following symptoms: recurrent respiratory tract infections, hepatosplenomegaly, multiple lymphadenopathy, otitis media, and caries, and exhibit scattered nodular protrusions on fiberoptic bronchoscopy, should be vigilant for APDS. .
Topics: Humans; Female; Male; Child, Preschool; Child; Class I Phosphatidylinositol 3-Kinases; Retrospective Studies; Respiratory Tract Infections; Mutation; Primary Immunodeficiency Diseases; Infant
PubMed: 38802911
DOI: 10.7499/j.issn.1008-8830.2312065 -
Journal of Clinical Medicine May 2024The development of temporal bone pneumatization is related to the postnatal middle ear environment, where the development of air cells is suppressed with otitis media...
The development of temporal bone pneumatization is related to the postnatal middle ear environment, where the development of air cells is suppressed with otitis media in early childhood. However, whether air cell formation restarts when mastoidectomy is performed during temporal bone pneumatization remains unclear. Herein, we evaluated temporal bone pneumatization after canal wall up (CWU) tympanomastoidectomy for middle ear cholesteatoma in children. In total, 63 patients, including 29 patients with congenital cholesteatoma (CC) and 34 patients with acquired cholesteatoma (AC), were assessed using a set of pre- and postoperative computed tomography images. The air cells of the temporal bone were divided into five areas: periantral (anterior), periantral (posterior), periantral (medial), peritubal, and petrous apex. The number of areas with air cells before and after surgery was compared to evaluate temporal bone pneumatization after surgery. A total of 63 patients, comprising 29 with CC and 34 with AC (pars flaccida; 23, pars tensa; 7, unclassified; 4), were evaluated. The median age of patients (18 males and 11 females) with CC was 5.0 (range, 2-15 years), while that of the AC group (23 males and 11 females) was 8 (range, 2-15 years). A significant difference in air cell presence was identified in the CC and AC groups after surgery (Mann-Whitney U, < 0.001 and = 0.003, respectively). Between the two groups, considerably better postoperative pneumatization was observed in the CC group. A correlation between age at surgery and gain of postoperative air cell area development was identified in the CC group (Spearman's rank-order correlation coefficient, r = -0.584, < 0.001). In comparison with the postoperative pneumatization rate of each classified area, the petrous apex area was the lowest in the CC and AC groups. Newly developed air cells were identified in the temporal bones after CWU mastoidectomy for pediatric cholesteatoma. These findings may justify CWU tympanomastoidectomy, at least for younger children and CC patients, who may subsequently develop air cell systems after surgery.
PubMed: 38792475
DOI: 10.3390/jcm13102934 -
Cureus Apr 2024Thornwaldt cyst is a rare cystic formation, located along the midline of the nasopharynx. We present the case of a 60-year-old man with impaired nasal breathing and a...
Thornwaldt cyst is a rare cystic formation, located along the midline of the nasopharynx. We present the case of a 60-year-old man with impaired nasal breathing and a several months-long history of serous otitis media. His only concomitant disease was arterial hypertension. The diagnostic imaging tests revealed a well-rounded cystic formation involving the upper part of the nasopharynx, characteristic of Thornwaldt cyst. Following, endoscopic transnasal marsupialization was performed and the benign cystic nature was confirmed on histopathology. The patient responded to the administered treatment and reported no persistence or emergence of new symptoms. The current case presents a symptomatic Thornwaldt cyst successfully treated by endoscopic transnasal marsupialization.
PubMed: 38784350
DOI: 10.7759/cureus.58796 -
Journal of Yeungnam Medical Science May 2024Myringotomy with tympanostomy tube insertion (MTI) is a superficial surgical procedure used to prevent hearing loss in children with serous otitis media. Intravenous...
BACKGROUND
Myringotomy with tympanostomy tube insertion (MTI) is a superficial surgical procedure used to prevent hearing loss in children with serous otitis media. Intravenous anesthesia, often ketamine, is preferred for this procedure because of its ability to induce sedation without compromising airway reflexes. However, ketamine alone may be insufficient and potentially lead to spontaneous movement during surgery. This study evaluated the effectiveness of midazolam and fentanyl as adjuvants to ketamine in reducing spontaneous movement during MTI and enhancing the quality of recovery.
METHODS
This study involved two groups of 30 patients each: one group received intravenous ketamine (1.5 mg/kg) with an equal volume of normal saline (K group), while the other received a combination of midazolam, fentanyl, and ketamine (0.05 mg/kg, 1 μg/kg, and 1.5 mg/kg, respectively; MFK group). We assessed side effects, intraoperative patient movement, surgeon satisfaction, and emergence agitation scores.
RESULTS
The MFK group exhibited significantly lower scores for patient movement (p<0.01) and emergence agitation (p<0.01) and markedly higher surgeon satisfaction scores (p<0.01) than the K group.
CONCLUSION
Administering a midazolam-fentanyl-ketamine combination effectively reduced spontaneous movement during surgery and emergence agitation during recovery without prolonging discharge times in children undergoing MTI.
PubMed: 38778719
DOI: 10.12701/jyms.2024.00276 -
Cureus Apr 2024The facial nerve supplies motor, sensory, and parasympathetic innervation to the head and neck, and its paralysis can have significant physical and psychological...
The facial nerve supplies motor, sensory, and parasympathetic innervation to the head and neck, and its paralysis can have significant physical and psychological impacts. This study discusses a compelling case involving a 21-year-old male who developed delayed facial nerve palsy (DFNP) on the eighth day after cortical mastoid surgery. Through conservative management, the patient achieved a full recovery by the 52nd day. Our experience underscores the importance of approaching DFNP with patience, emphasizing the need for thorough counseling of both the patient and their family members.
PubMed: 38774163
DOI: 10.7759/cureus.58691 -
SAGE Open Medical Case Reports 2024Malignant otitis externa (skull base osteomyelitis) can be fatal and long-term antibiotic therapy is recommended. Despite being potentially fatal, this infection causes...
Malignant otitis externa (skull base osteomyelitis) can be fatal and long-term antibiotic therapy is recommended. Despite being potentially fatal, this infection causes minor changes in inflammatory biomarkers (white blood cell count and C-reactive protein levels) upon blood testing. Computed tomography and magnetic resonance imaging changes persist over a long period. Therefore, it is difficult to determine the optimal time for the discontinuation of antibiotics. We present a 77-year-old male whose medical history included type 2 diabetes mellitus who suffered from chronic otitis media with Pseudomonas aeruginosa infection. His condition did not improve with proper treatment, and imaging revealed malignant otitis media. Intravenous cefepime treatment was administered. Antibiotic treatment was de-escalated to oral levofloxacin treatment after Gallium-67 scintigraphy showed less accumulation after 6 weeks of Cefepime administration; accumulation almost disappeared after 1 year. In this report, we describe the usefulness of gallium scintigraphy in the evaluation of malignant otitis externa.
PubMed: 38764912
DOI: 10.1177/2050313X241253462 -
NPJ Primary Care Respiratory Medicine May 2024Tobacco control policies can protect child health. We hypothesised that the parallel introduction in 2008 of smoke-free restaurants and bars in the Netherlands, a...
Tobacco control policies can protect child health. We hypothesised that the parallel introduction in 2008 of smoke-free restaurants and bars in the Netherlands, a tobacco tax increase and mass media campaign, would be associated with decreases in childhood wheezing/asthma, respiratory tract infections (RTIs), and otitis media with effusion (OME) presenting in primary care. We conducted an interrupted time series study using electronic medical records from the Dutch Integrated Primary Care Information database (2000-2016). We estimated step and slope changes in the incidence of each outcome with negative binomial regression analyses, adjusting for underlying time-trends, seasonality, age, sex, electronic medical record system, urbanisation, and social deprivation. Analysing 1,295,124 person-years among children aged 0-12 years, we found positive step changes immediately after the policies (incidence rate ratio (IRR): 1.07, 95% CI: 1.01-1.14 for wheezing/asthma; IRR: 1.16, 95% CI: 1.13-1.19 for RTIs; and IRR: 1.24, 95% CI: 1.14-1.36 for OME). These were followed by slope decreases for wheezing/asthma (IRR: 0.95/year, 95% CI: 0.93-0.97) and RTIs (IRR: 0.97/year, 95% CI: 0.96-0.98), but a slope increase in OME (IRR: 1.05/year, 95% CI: 1.01-1.09). We found no clear evidence of benefit of changes in tobacco control policies in the Netherlands for the outcomes of interest. Our findings need to be interpreted with caution due to substantial uncertainty in the pre-legislation outcome trends.
Topics: Humans; Child, Preschool; Infant; Primary Health Care; Female; Male; Netherlands; Child; Respiratory Tract Infections; Asthma; Respiratory Sounds; Smoke-Free Policy; Infant, Newborn; Interrupted Time Series Analysis; Tobacco Smoke Pollution; Otitis Media; Incidence; Tobacco Control
PubMed: 38755181
DOI: 10.1038/s41533-024-00369-8