Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23.

Cadherin 23 (CDH23) is one of the most common genes responsible for hereditary hearing loss; a mutation of CDH23 can cause a wide range of symptoms depending on the variant. In this study, an iPSC line was generated from a patient with late-onset, progressive high frequency hearing loss caused by c.[719C > T];[6085C > T]:p.[P240L];[R2029W] compound heterozygous variants of CDH23. The cells were confirmed to have a normal karyotype, express markers of pluripotency, and have tri-embryonic differentiation potential. This disease-specific iPSC line will further the construction of disease models and the elucidation of the pathophysiology of CDH23 mutations.

A Case of Woakes' Syndrome With A Bilateral, Large Nasal Polyp.

Woakes' syndrome, first reported by Edward Woakes in 1885, is an extremely rare, recurrent sinonasal polyposis leading to bone erosion of the sinus walls with consequent nasal pyramid deformity and facial disfigurement. We report a 66-year-old man who presented with severe nasal obstruction. His external nose was deformed and distended with complete obstruction of the bilateral nasal cavities by nasal polyps. The normal structure of the nose was disrupted. Thus, super-selective embolization was performed before surgery to minimize bleeding. The day after the embolization, polypectomy was performed with the navigation system. The progression was uneventful, and the patient was discharged on postoperative day 7. Pathological examination revealed inflammatory polyps with no eosinophil infiltration. Thus, we diagnosed it as Woakes' syndrome. Although there have been few reports of Woakes' syndrome in the past, these are the largest polyps reported to the best of our knowledge.

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.

Usher syndrome type 2A (USH2A) gene mutations have been identified as the most frequent genetic causes of hereditary deafness in Usher syndrome, and an effective treatment has yet to be established. The encoded protein, Usherin, is essential for the ankle link associated with extracellular connections between the stereocilia of inner ear hair cells. We report the generation of a patient-derived USH2A iPSC line with compound mutations c.1907_1912ATGTTT > TCACAG (p.D636V + V637T + C638G) and c.8328_8329delAA (p.L2276fs*12). The iPSC showed the expression of pluripotency markers, the ability to differentiate into three germ layers in vitro, and USH2A mutations with normal karyotype.

Presence of anaerobic bacteria and symptoms supports diagnosis of odontogenic sinusitis.

PURPOSE: The present study aimed to investigate the diagnostic indicators of odontogenic sinusitis other than computed tomography (CT) findings and the history of dental treatment such as detected bacteria and symptoms. MATERIALS AND METHODS: We performed a retrospective analysis of 87 patients who underwent surgery for unilateral sinusitis between 2016 and 2020 (n = 87). Patients with cysts and fungal sinusitis were excluded from the study. We analyzed the relationship between the presence/absence of CT findings such as periapical lesions and oroantral fistulas; anaerobic bacteria; and symptoms in patients with unilateral sinusitis. RESULTS: There was a significant correlation between the detection of anaerobes and CT findings. Peptostreptococcus sp., Prevotella sp., Streptococcus anginosus group, and Fusobacterium sp. were the most commonly isolated species. Detection of these anaerobic bacteria supports the diagnosis of odontogenic sinusitis. Moreover, ODS often present with symptoms, such as a foul smell and facial pain. CONCLUSIONS: Our results suggest that not only the presence of CT findings such as PAL and OAF, but the detection of anaerobic bacteria, and the presence of any symptoms may aid in the diagnosis of ODS.

A case of bisphosphonate-related osteonecrosis of the maxilla with orbital cellulitis.

Bisphosphonates are used for the treatment of bone metastases of cancer and prevention of osteoporosis. Bisphosphonate-related osteonecrosis of the jaw (BRONJ) has unclear mechanisms, but its elucidation, prevention, and treatment are essential to improve patient outcomes.An 88-year-old woman who was taking oral bisphosphonates for 4 years presented with a 5-day history of gradual orbital pain. Computed tomography (CT) revealed bilateral maxillary sinusitis and bony destruction at the base of the right maxillary sinus and inferior orbital wall. We diagnosed her with bisphosphonate-related osteonecrosis of the maxilla. In addition to intravenous antibiotic treatment, an endoscopic sinus surgery was performed. The patient's postoperative course was uneventful.To the best of our knowledge, this is the first case report of BRONJ with orbital cellulitis. This condition should be considered among patients taking bisphosphonates, who manifest with symptoms of orbital cellulitis and bone destruction on imaging.

Corrigendum to "A Case of Epistaxis as the First Sign of Acute Idiopathic Thrombocytopenic Purpura".

[This corrects the article DOI: 10.1155/2021/6612939.].

A Case of Aspiration Pneumonia Caused by Cerebrospinal Fluid Leaks Associated with Delayed Identification of Iatrogenic Skull Base Injury during Endoscopic Sinus Surgery.

Cerebrospinal fluid (CSF) leaks associated with endoscopic sinus surgery (ESS) are a rare complication affecting approximately 0.09% of patients. Although meningitis is a well-known complication of CSF leaks, the case we present is a rare and cautionary case of CSF leakage associated with ESS leading to aspiration pneumonia. A 43-year-old man with CSF leaks after ESS was referred to our hospital. After the operation, sometimes, he reported having a serous nasal discharge from the right side when he bent over, and he woke up choking on something every day. He also experienced headache, fever, fatigue, and cough. Interestingly, chest computed tomography (CT) showed a consolidation and ground-glass opacity in the posterior segments of the right upper lobes and superior segments of the bilateral lower lobes. These CT imaging findings were similar to those of aspiration pneumonia in bedridden patients who are always in a supine position. These findings suggest that CSF caused aspiration pneumonia. To the best of our knowledge, no case of aspiration pneumonia caused by CSF during endoscopic sinus surgery has been reported until now. If a patient with CSF leakage after ESS experiences fever, cough, or fatigue, physicians should consider aspiration pneumonia in addition to meningitis.

Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.

The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Among them, the G45E/Y136X mutation in GJB2 is the third most prevalent in Japan. In this study, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of siblings with moderate-to-severe hearing loss (patient) or normal hearing (genetic carrier) carrying a homozygous or heterozygous G45E/Y136X mutation in GJB2 gene, respectively. These iPSC lines showed the expression of pluripotency markers and could differentiate into three germ layers. These disease-specific iPSC lines will be a powerful tool for investigating the pathogenesis of GJB2-related deafness.

A Case of Epistaxis as the First Sign of Acute Idiopathic Thrombocytopenic Purpura.

Idiopathic thrombocytopenic purpura (ITP) is an acquired thrombocytopenia caused by the action of autoantibodies against platelet antigens. It is traditionally defined by a platelet count of less than 10 × 104/µL. Most patients with ITP are asymptomatic; however, symptoms have been confirmed in some cases. Conversely, it is very rare to find epistaxis as the first sign of ITP. We report the case of an 84-year-old man who came to the ear, nose, and throat department with severe and repeated epistaxis. We decided to keep him hospitalized as it was very difficult to stop the nasal bleeding. A full blood count showed a platelet level of only 1000/µL. Hematologic results confirmed the diagnosis of ITP. The patient underwent treatment with intravenous gamma-globulin, platelet transfusions, and romiplostim with a favorable response.

Surgical Management of Bilateral Venous Malformation (Cavernous Hemangiomas) of the Maxillary Sinus.

According to International Society for the Study of Vascular Anomalies classification 2018, "hemangioma" should be classified as either vascular tumor or vascular malformation (VM). So-called "cavernous hemangioma" is categorized as VM. VM rarely involves the mucous membranes of the sinonasal cavity and typically arises unilaterally from the sinonasal cavity. Bilateral VM of the maxillary sinus is extremely rare. To the best of our knowledge, there is no previous report of bilateral VM of the maxillary sinus. Here, we describe the surgical treatment of bilateral cavernous hemangiomas of the maxillary sinus. These tumors were successfully resected by endoscopic modified medial maxillectomy (EMMM) after embolization. Endoscopic sinus surgery, particularly EMMM, produces access to the bilateral maxillary sinus and can prevent several complications.

Degradation and modification of cochlear gap junction proteins in the early development of age-related hearing loss.

Age-related hearing loss (ARHL) is the progressive, bilateral loss of high-frequency hearing in elderly people. Mutations in GJB2, encoding the cochlear gap junction protein connexin26 (Cx26), are the most frequent cause of hereditary deafness; however, a common molecular pathology between ARHL and GJB2-related hearing loss has not been reported. Here, we investigated the quantitative change in expression and molecular pathology of Cx26 in ARHL. We used C57BL/6J mice as a model of ARHL. Hearing levels that were evaluated by auditory brainstem response thresholds increased gradually between 4 and 32 weeks of age and increased sharply at 36 weeks. Gap junctions in the cochleae of 4-week-old mice had linear plaques along cell-cell junction sites. In contrast, the cochleae from 32-week-old mice had significantly shorter gap junctions. Severe hair cell loss was not observed during this period. Based on western blotting, Cx26 and connexin30 (Cx30) levels were significantly decreased at 32 weeks compared with 4 weeks.Moreover, Cx26 was more significantly enriched in the hydrophilic fraction at 4 weeks but was more significantly enriched in the hydrophobic fraction at 32 weeks, indicating an age-related conversion of this biochemical property. Thus, the hydrophobic conversion of Cx26 and disruption of gap junction proteins and plaques may be involved in the pathogenesis of ARHL and may occur before severe hair cell degeneration.

Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation.

The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation in GJB2 is most prevalent in Southeast Asia including Thailand, Malaysia, and Indonesia. Furthermore, it is the second most prevalent cause in Japan and China, and exhibits an audiometric phenotype of mild-to-moderate hearing loss. In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss.

The cheek expander enables tonsillectomy with a wide view and working space.

OBJECTIVE: Tonsillectomy is the most commonly performed otolaryngological surgeries. Although a surgical method had been established, obtaining a clear surgical field still remains problematic, and injury to the corners of the mouth may occur. For safer tonsillectomy, we use a cheek expander coupled with a Davis mouth gag. The devise retract both corners of the mouth to a wide lateral position. We report here our investigation in the application of a cheek retractor for tonsillectomy and also report the advantages of this device. METHODS: A series of 13 tonsillectomies (7 adults and 6 children) using the cheek retractor from November 2017 to March 2018 were enrolled for this study. The cheek retractor was applied after the Davis mouth-opening device was in place. We measured the oral angle diameter before and after placement of the cheek retractor. RESULTS: This devise increases the width of the visual field 1.6 times and provides a good surgical field. In addition, this device covers the mouth fully and safely, so no lip injury develops CONCLUSION: The cheek retractor is useful for improving the narrow working space in tonsillectomy.

Parapharyngeal Abscesses Caused by Group G Streptococcus.

Deep neck abscess is a life-threatening infection that causes laryngeal edema and upper airway occlusion. The predominant bacterial species involved in this disorder is group A streptococcus. Group G streptococcus (GGS) constitutes the normal commensal flora of the human upper airway. Although rarely, it can cause pharyngitis, tonsillitis, and peritonsillar abscess. Here, we report a case of a woman with parapharyngeal abscess caused by GGS. A 56-year-old woman presented to the emergency department with complaints of sore throat and cervical swelling, and a diagnosis of parapharyngeal abscess was established. She had upper airway occlusion, requiring urgent tracheostomy. Endoscopic incision and drainage of the abscess using a specially designed, rigid curved laryngoscope was successfully performed. Since a rigid curved laryngoscope creates a wide viewing field and working space, it was useful for incision and drainage of the parapharyngeal abscess.

A case of ectopic salivary gland of the larynx.

A 46-year-old man presented with sore throat. Laryngoscopic findings revealed a smooth yellow mass occupying the anterior portion of the false vocal fold on the left side. The authors performed biopsy under general anesthesia. The histopathological diagnosis was ectopic salivary gland. Because salivary glands are usually not found under the false vocal fold mucosa, ectopic salivary gland of the larynx was diagnosed. It is necessary to consider the possibility of ectopic salivary gland for mass lesions if swelling of the provisional vocal cord is found.