• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.6
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• pp.564-570
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• 2021

Perianal fistulizing diseases, namely perianal fistulas and/or abscesses, are well-known complications of Crohn's disease (CD). These are known to develop more frequently in Asian children with CD, especially in the early stages of the disease course. Approximately half of the pediatric CD cases in Korea present with perianal fistulizing diseases at diagnosis. We report a rare case of a 12-year-old boy with CD with an incidental discovery of a perianal abscess on pelvic magnetic resonance imaging during CD diagnosis. No symptoms or signs of perianal fistulizing disease were identified. The early diagnosis of the perianal abscess enabled timely and effective treatment. Considering the high incidence of concomitant perianal CD in Korean children at diagnosis, perianal imaging may be useful and should be considered during diagnostic evaluation, even in patients with no subjective or objective findings indicating perianal CD.

• BMB Reports
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• v.54 no.6
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• pp.295-304
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• 2021

Olfactory neuropathology is a cause of olfactory loss in Alzheimer's disease (AD). Olfactory dysfunction is also associated with memory and cognitive dysfunction and is an incidental finding of AD dementia. Here we review neuropathological research on the olfactory system in AD, considering both structural and functional evidence. Experimental and clinical findings identify olfactory dysfunction as an early indicator of AD. In keeping with this, amyloid-β production and neuroinflammation are related to underlying causes of impaired olfaction. Notably, physiological features of the spatial map in the olfactory system suggest the evidence of ongoing neurodegeneration. Our aim in this review is to examine olfactory pathology findings essential to identifying mechanisms of olfactory dysfunction in the development of AD in hopes of supporting investigations leading towards revealing potential diagnostic methods and causes of early pathogenesis in the olfactory system.

• Journal of Electrodiagnosis and Neuromuscular Diseases
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• v.20 no.2
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• pp.148-152
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• 2018

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.

• Journal of Information Science Theory and Practice
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• v.9 no.2
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• pp.18-32
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• 2021

Social media has become a popular source of information around the world. Previous studies explored different trends of social media news consumption. However, no studies have focused on Bangladesh to date, where social media penetration is very high in recent years. To fill this gap, this research aimed to understand its popularity trends during the period. For that reason, this work analyzes 97.67 million page likes and 3.48 billion interaction data collected from nine Bangladeshi news media's Facebook pages between December 2016 to November 2020. The analysis shows that the growth rates of page likes and interaction rates declined during this period. It suggests that the media's Facebook pages are gradually losing their popularity among Facebook users, which may have two more interpretations: Facebook's aggregate appeal as a news source is decreasing to users, or Bangladeshi media's appeal is eroding to Facebook users. These findings challenge the previous results, i.e., Facebook's demand as a news source is increasing with time. We offer four explanations of the decreased popularity of Facebook's news: information overload, exposure to incidental news, users' selective exposure and different aims of using Facebook, and conflict between media agendas and users' interests. Some theoretical and practical significance of the results has been discussed as well.

• Journal of Chest Surgery
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• v.54 no.6
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• pp.494-499
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• 2021

Background: A recent increase in the incidental detection of ground glass nodules (GGNs) has created a need for improved diagnostic accuracy in screening for malignancies. However, surgical diagnosis remains challenging, especially via video-assisted thoracoscopic surgery (VATS). Herein, we present the efficacy of a novel electrical navigation system for perioperative percutaneous transthoracic nodule localization. Methods: Eighteen patients with GGNs who underwent electromagnetic navigated percutaneous transthoracic needle localization (ETTNL), followed by 1-stage diagnostic wedge resections via VATS between January and December 2020, were included in the analysis. Data on patient characteristics, nodules, procedures, and pathological diagnoses were collected and retrospectively reviewed. Results: Of the 18 nodules, 17 were successfully localized. Nine nodules were pure GGNs, and the remaining 9 were part-solid GGNs. The median nodule size was 9.0 mm (range, 4.0-20.0 mm); and the median depth from the visceral pleura was 5.2 mm (range, 0.0-14.4 mm). The median procedure time was 10 minutes (range, 7-20 minutes). The final pathologic results showed benign lesions in 3 cases and malignant lesions in 15 cases. Conclusion: Perioperative ETTNL appears to be an effective method for the localization of GGNs, providing guidance for a 1-stage VATS procedure.

• Archives of Craniofacial Surgery
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• v.22 no.6
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• pp.329-332
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• 2021

Although lipoma is a common benign tumor, it occurs relatively infrequently in the oral and maxillofacial areas, and only 31 cases of lipoma in the buccal fat pad have been reported. Herein, we present an extremely rare case of symmetric lipomas in both buccal fat pads. These masses were incidentally discovered during a facelift procedure in a 50-year-old woman with a 4-year history of tamoxifen use. during which she had gained 10 kg. The patient stated that cheek protrusion had developed concomitantly with weight gain and was exacerbated by an injection lipolysis procedure she had received 1 year previously. This case underscores the importance of paying careful attention to the patient's medication use and surgical history when evaluating suspected cases of lipoma, and sheds light on tamoxifen use and subcutaneous injections of phosphatidylcholine and deoxycholate as potential risk factors for lipoma development.

• Imaging Science in Dentistry
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• v.51 no.4
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• pp.351-361
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• 2021

Purpose: The clivus is a region in the anterior section of the occipital bone that is commonly imaged on large-volume cone-beam computed tomography (CBCT). There have been several reports of incidental clivus variations and certain pathological entities that have been attributed to the variations. This study aimed to evaluate the effects of these variations within the scope of dentistry. Materials and Methods: Medical databases (PubMed, Scopus, and Web of Science) were searched using a controlled vocabulary (clival anomalies, cone-beam CT, canalis basilaris medianus, fossa navicularis magna, clival variation). The search was limited to English language, humans, and studies published in the last 25 years. The articles were exported into RefWorks^® and duplicates were removed. The remaining articles were screened and reviewed for supporting information on variations of the clivus on CBCT imaging. Results: Canalis basilaris medianus and fossa navicularis magna were the most common anomalies noted. Many of these variations were asymptomatic, with most patients unaware of the anomaly. In certain cases, associated pathologies ranged from developmental (Tornwaldt cyst), to acquired (recurrent meningitis). While no distinct pathognomonic aspects were noted, there were unique patterns of radiographic diagnosis and treatment modalities. Most patients had a normal course of follow-up. Conclusion: Interpretation of CBCT volumes is a skill every dentist must possess. When reviewing large-volume CBCT scans, the clinician should be able to distinguish pathology from normal anatomic variations within the skull base. The majority of clivus variations are asymptomatic and will remain undetected unless incidentally noted on radiographic examinations.

• Genomics & Informatics
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• v.20 no.3
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.63-67
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• 2022

Nephrocalcinosis often occurs in infants and is caused by excessive calcium or vitamin D supplementation, neonatal primary hyperparathyroidism, and genetic disorders. Idiopathic infantile hypercalcemia (IIH), a rare cause of nephrocalcinosis, results from genetic defects in CYP24A1 or SLC34A1. Mutations in CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, disrupt active vitamin D degradation. IIH clinically manifests as failure to thrive and hypercalcemia within the first year of life and usually remits spontaneously. Herein, we present a case of IIH wih CYP24A1 mutations. An 11-month-old girl visited our hospital with incidental hypercalcemia. She showed failure to thrive, and her oral intake had decreased over time since the age of 6 months. Her initial serum parathyroid hormone level was low, 25-OH vitamin D and 1,25(OH)₂ vitamin D levels were normal, and renal ultrasonography showed bilateral nephrocalcinosis. Whole-exome sequencing revealed compound heterozygous variants in CYP24A1 (NM_000782.4:c.376C>T [p.Pro126Ser] and c.1310C>A [p.Pro437His]). Although her hypercalcemia and poor oral intake spontaneously resolved in approximately 8 months, we suggested that her nephrocalcinosis and renal function be regularly checked in consideration of potential asymptomatic renal damage. Hypercalcemia caused by IIH should be suspected in infants with severe nephrocalcinosis, especially when presenting with failure to thrive.

• Imaging Science in Dentistry
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• v.52 no.4
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• pp.429-434
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• 2022

Supernumerary teeth that are present in the molar region may be evident based on crowding and impaction, but most cases are asymptomatic and discovered as incidental findings during routine radiological examinations. This article reports the case of a 29-year-old woman who presented with a severe feeling of pressure in the region of the maxillary third molars that had been increasing in intensity for weeks. A clinical examination revealed crowding of the maxillary anterior teeth despite the completion of orthodontic treatment and an erupted third molar with localized gingivitis in the second quadrant. A radiographic examination revealed bilateral supernumerary maxillary fourth and fifth molars, so cone-beam computed tomography was performed to locate the supernumerary teeth precisely for a preoperative diagnosis and comprehensive treatment planning. This report presents the radiological and surgical case management of a rare case of bilateral supernumerary molars and reviews the literature regarding epidemiology and treatment options.