OBJECTIVE: To analyze the clinical phenotype and pathogenic mechanism of the ARSL gene variant in a fetus with nasal bone aplasia. METHODS: A 34-year-old pregnant woman who attended Quzhou Maternal and Child Health Care Hospital on January 3, 2023 was selected as the study subject. Whole exome sequencing (WES) was performed on the fetus. Bioinformatics analysis was carried out to identify and prioritize candidate gene variants, followed by Sanger sequencing for familial validation. A mutant plasmid expression vector was constructed and subsequently transfected into HEK293T cells to preliminarily investigate the pathogenetic mechanism of the identified variant. Additionally, a comprehensive review of literature was conducted to systematically summarize the associated clinical phenotypes. This study was approved by the Medical Ethics Committee of Quzhou Maternal and Child Health Care Hospital (Ethics No.: KY-2023-11). RESULTS: WES revealed that the fetus harbored a c.827del (p.L276Rfs*48) variant of the ARSL gene, for which its mother was heterozygous. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic(PVS1+PM2_Supporting). In vitro cellular function studies demonstrated that this variant can result in a substantial decrease in the expression of mutant mRNA, thereby preventing the production of normal ARSL protein. Clinical phenotypes resulting from ARSL gene variants exhibited considerable diversity, with nasal hypoplasia being the most common manifestation. CONCLUSION The c.827del (p.L276Rfs*48) variant of the ARSL gene can lead to degradation of mRNA via the nonsense-mediated mRNA decay pathway, resulting in reduced levels of ARSL protein. The pathogenetic mechanism underlying the ARSL gene variant may be associated with its haploinsufficiency effect.
Humans ; Female ; Pregnancy ; Adult ; Frameshift Mutation ; HEK293 Cells ; Nasal Bone/abnormalities* ; Fetus/abnormalities* ; Exome Sequencing

Introduction: Sinonasal collision tumors are exceptionally rare, and glomangiopericytoma (GPC) is an uncommon perivascular myoid neoplasm accounting for less than 0.5% of sinonasal tumors. GPC can mimic other spindle-cell tumors, and recognition of perivascular morphology with immunohistochemistry with SMA, nuclear and cytoplasmic β-catenin are essential. Sinonasal B-cell lymphomas are also uncommon and may be difficult to classify in fibrotic biopsies; the coexistence of these two entities appears exceedingly unusual. Case Description: A 69-year-old man presented with progressive left-sided nasal symptoms. Endoscopy showed an obstructing left nasal cavity mass. Biopsy showed two components: a spindle-cell proliferation with thin-walled branching (“staghorn”) vessels and perivascular hyalinization, and scattered monomorphic small round blue cells in dense sclerosis. Spindle cells were SMA-, nuclear and cytoplasmic β-catenin-positive, STAT6- and TLE1-negative, and SS18 FISH-negative, supporting GPC. The round-cell component was CD20-positive but too scant for subclassification. Left partial maxillectomy showed a diffuse monomorphic round-cell infiltrate in sclerotic stroma. Cells were CD79a-, PAX5-, and BCL6-positive, with focal weak CD10 and Ki-67 ~25–45%, confirming B-cell lymphoma. Discussion: The key decision was to evaluate the spindle-cell and round-cell components separately rather than force a single diagnosis. A targeted panel supported GPC and excluded major mimics. The round cell component was identified morphologically and confirmed by immunophenotypic findings as B-cell lymphoma; however, precise subclassification could not be established because of the dense sclerosis, and molecular testing was not performed. Conclusion The sinonasal mass contains two distinct neoplasms. The main lesson is to assess each component independently, use targeted immunohistochemistry, and correlate biopsy with resection.
Nasal Cavity ; Neoplasms ; Lymphoma, B-Cell

Processing for deodorization is widely used in the production of animal-derived Chinese medicinal materials. In this study, Heracles Neo ultra-fast gas-phase electronic nose combined with chemometrics was employed to analyze the overall odor difference of Cervi Cornu Pantotrichum(focusing on that derived from Cervus nippon Temminck in this study) before and after processing. The results showed that the electronic nose effectively distinguished between the medicinal materials and decoction pieces of Cervi Cornu Pantotrichum. HS-GC-MS was used to identify and quantify the volatile components in the medicinal materials and decoction pieces of Cervi Cornu Pantotrichum, and 35 and 37 volatile components were detected in the medicinal materials and decoction pieces, respectively. The medicinal materials and decoction pieces contained 28 common volatile components contributing to the odor of Cervi Cornu Pantotrichum. The odor activity value(OAV) of each volatile component was calculated based on the olfactory threshold and relative content. The results showed that there were 17 key odor substances such as isovaleraldehyde, 2-methylbutanal, isobutyraldehyde, hexanal, and methanethiol in the medicinal materials and decoction pieces of Cervi Cornu Pantotrichum. All of them had bad odor and were the main source of the odor of Cervi Cornu Pantotrichum. The results of principal component analysis(PCA) and orthogonal partial least squares-discriminant analysis(OPLS-DA) showed that there were significant differences in volatile components between the medicinal materials and decoction pieces of Cervi Cornu Pantotrichum. Based on the thresholds of P<0.05 and Variable Importance in Projection(VIP)>1, 21 differential volatile odor components were screened out. Among them, isopentanol, isovaleraldehyde, 2-methylbutanal, n-nonanal, and dimethylamine were the key differential odor compounds between the medicinal materials and decoction pieces of Cervi Cornu Pantotrichum. The odor compounds and their relative content reduced, and some flavor substances such as esters were produced after processing with wine, which was the main reason for the reduction of the odor after processing of Cervi Cornu Pantotrichum.
Odorants/analysis* ; Electronic Nose ; Gas Chromatography-Mass Spectrometry/methods* ; Animals ; Volatile Organic Compounds/analysis* ; Deer ; Drugs, Chinese Herbal/chemistry*

OBJECTIVE

To describe a case of a craniomaxillofacial penetrating injury focusing on the importance of a multidisciplinary approach with insights into the surgical planning for successful removal of the foreign body during the pandemic.

Design: Case Report

Setting: Tertiary Government Training Hospital

Patient: One

A 15-year-old boy presented with a work-related puncture wound in the right nasomaxillary area with accompanying soft-tissue swelling. Physical examination of his face showed no external foreign body. Craniofacial computed tomography scans revealed a rod-shaped opaque foreign body about 12 cm in length and 9 mm in diameter lodged in the right maxillary sinus extending to the right temporal lobe. The otolaryngology-head and neck surgeon and neurosurgeon planned the crucial extraction of the foreign body, but the requirement for a negative RT-PCR, blood products, and additional imaging delayed this emergent operation. The foreign body was eventually removed via combined trans-antral approach and right frontotemporal craniotomy, zygotomy, and craniectomy around the foreign body in the temporal floor with duraplasty and cranioplasty.

Successful treatment of penetrating craniomaxillofacial injuries involves diligent clinical assessment, radiologic diagnosis and a well-planned multidisciplinary surgical approach. Delays in treatment may be beneficial if they allow precise location of the foreign body and thorough evaluation of involved structures. Safeguarding the healthcare workers during the pandemic was as important as ensuring a successful and safe surgery for the patient.

OBJECTIVE

To determine if the prelacrimal window approach is feasible in a Filipino population by measuring the distance between the anterior maxillary wall and lacrimal duct in paranasal sinus CT scans, classifying them into prelacrimal window approach levels of difficulty.

Design: Retrospective Review of Records

Setting: Tertiary Private University Hospital

Participants: PNS CT scans of Filipino patients 18 years old or above

A total of 169 PNS CT scans were reviewed, measuring the right and left sides for a total of 338 sides. The mean prelacrimal window distance for males was 5.70mm (±1.79), while for females it was 4.94 (±1.75), with a combined mean distance of 5.32mm. Ten percent (10%) of CT scans (34) were classified as Type 1; 73.7% (249) were classified as Type 2, and 16.3% (55) were classified as Type 3.

The prelacrimal window approach may be anatomically feasible in the Filipino population studied, with 90% of the PNS CT scan sides reviewed falling into the Type 2; and Type 3 categories, opening more potential avenues in the management of anterior maxillary lesions in the Philippines.

A 31-year-old man diagnosed with type 2 chronic rhinosinusitis with nasal polyps, initially presenting with a 1-year history of nasal blockage and anosmia, was refractory to medical therapy and had been advised to undergo endoscopic sinus surgery (ESS). Bilateral frontal sinusotomy and complete ethmoidectomy were needed to ensure adequate delivery of post-operative topical steroids. During this portion of ESS, the anterior skull base would be vulnerable to iatrogenic injury. How could the surgeon prepare pre-operatively to avoid such a complication?

Despite advances in imaging technology, instrumentation and surgical techniques for ESS, complications may still happen. Iatrogenic injury to the anterior skull base causing a cerebrospinal fluid (CSF) leak is one of the dreaded complications of ESS. The anterior skull base is composed of the cribriform plate and the fovea ethmoidalis or ethmoid roof. These bony structures are connected by the lateral lamella of the cribriform plate (LLCP) which delineates the lateral border of the olfactory fossa. The LLCP is known as the most vulnerable structure of the anterior skull base during ESS especially during ethmoidectomy and frontal sinusotomy.

In the realm of oral implantology, currently, there is no unanimous consensus or authoritative guideline regarding how to conduct implant restoration for cases involving oroantral communication or oroantral fistula. In these cases, the bony plate of the maxillary sinus floor is discontinuous, the oro-sinus mucosa is in communication, and a vertical alveolar bone defect exists. This paper presents a case of a patient with two oroantral communications who successfully underwent implant restoration via simple staged surgeries. Following a 2-year clinical follow-up, the implant remains in good condition, and the patient expresses satisfaction. The objective of this paper is to offer a simple, safe, and readily-promotable new approach for such cases.
Humans ; Dental Implantation, Endosseous/methods* ; Dental Implants ; Maxillary Sinus/surgery* ; Oroantral Fistula/surgery*

Renal cell carcinoma (RCC) is notorious for its propensity to metastasize even after a prolonged period of remission following nephrectomy. The metastatic spread can occur months or even years after initial treatment, which necessitates a heightened level of clinical awareness and vigilance in patients with a history of renal malignancy, particularly who present with new or unexplained nasal symptoms. Although RCC most commonly metastasize to the lungs, bones and liver, its involvement in the nasal cavity is exceedingly rare, posing significant diagnostic challenges due to the non-specific nature of symptoms. We describe a case of metastatic renal cell clear cell carcinoma presenting with recurrent epistaxis and unilateral nasal obstruction. Immunohistochemistry studies play a crucial role in confirming the diagnosis and ruling out potential differential diagnoses, along with a comprehensive clinical history of the patient.

OBJECTIVE: To assess the osteogenesis height in maxillary sinus segment one year after zygomatic implantation by imaging methods, and evaluate the influence of patient factors, maxillary sinus anatomical factors and surgical factors on postoperative osteogenesis height. METHODS: This study is a retrospective study, including patients who underwent zygomatic implantation and whose zygomatic implants passed through the maxillary sinus at the Department of Implantology, Peking University School and Hospital of Stomatology from July 2017 to January 2022. Preoperative and postoperative cone beam CT (CBCT)was taken to measure and calculate the average osteogenesis height (AOH) in maxillary sinus segment of the zygomatic implants, then the residual bone height, the width and morphology of the maxillary sinus floor in the buccal and palatal directions were measured. Besides, the integrity of Schneiderian membrane during implant surgery, and the general information of the patients and zygomatic implants were recorded. By comparing anatomical situations and surgical characteristics, the differences of AOH under different conditions were analyzed. Then AOH was divided into two groups (obvious osteogenesis group and non-obvious osteogenesis group) using the median as the threshold, and the influencing factors of osteogenesis were evaluated using mixed effect generalized linear model univariable and multivariable analysis. RESULTS: A total of 47 zygomatic implants were implanted in 24 patients. During the average follow-up period of 12.1 months, there was no implant failure, and the implant survival rate was 100%. Postoperative CBCT showed that 43 zygomatic implants had osteogenic images in the maxillary sinus segment, most of which originated from the floor of the maxillary sinus, and the median AOH was 3.1 mm [interquartile range (IQR): 4.0 mm]. In terms of maxillary sinus width, there were 31 cases (66.0%) of wide type and 16 cases (34.0%) of narrow type. In the aspect of buccal and palatal morphology, 17 cases were taper (36.2%), 20 cases were round (42.6%), and 10 cases were flat (21.3%). The median of residual bone height was 2.8 mm (IQR: 2.2 mm) before operation. Univa-riate analysis of mixed effect generalized linear model showed that postoperative obvious osteogenic rate was related to the residual bone height (OR=2.09, P=0.006). Multivariate analysis showed that the resi-dual bone height (OR=2.55, P=0.022) and the shape of a taper maxillary sinus (OR=11.44, P=0.040) had a significant impact on the postoperative obvious osteogenic rate. CONCLUSION The maxillary sinus floor showed osteogenic images 1 year after the zygomatic implantation surgery. Larger residual bone height and the shape of a taper maxillary sinus may be favorable factors for osteogenesis.
Humans ; Maxillary Sinus/surgery* ; Cone-Beam Computed Tomography ; Retrospective Studies ; Zygoma/diagnostic imaging* ; Male ; Female ; Osteogenesis/physiology* ; Middle Aged ; Adult ; Dental Implants ; Aged ; Dental Implantation, Endosseous/methods*

Adenoid cystic carcinoma is a malignant tumor of the head and neck, this article reports a case of a large adenoid cystic carcinoma of the skull base, with the lesion involving the sphenoid sinus, sphenoid bone wings, pterygopalatine fossa, nfratemporal fossa, hard palate, and other structures. The treatment plan consisted of surgical excision, primary reconstrction of the surgical defect,and postoperative radiotherapy, resulting in a favorable prognosis for the patient.
Humans ; Carcinoma, Adenoid Cystic/surgery* ; Maxillary Sinus/surgery* ; Maxillary Sinus Neoplasms/surgery* ; Palate, Hard/surgery* ; Skull Base Neoplasms/surgery* ; Surgical Flaps