• Clinical and Experimental Reproductive Medicine
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• 제48권4호
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• pp.283-294
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• 2021

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

• Clinical Endoscopy
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• 제51권6호
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• pp.563-569
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• 2018

Background/Aims: To evaluate patients with portal hypertension (PH) of varied etiologies for portal hypertensive enteropathy (PHE) using the PillCam SB3 capsule endoscopy (CE) system. Methods: Consecutive patients with PH presenting with unexplained anemia and/or occult gastrointestinal bleeding were evaluated using the PillCam SB3 CE system. Abnormal findings were categorized as vascular or non-vascular. The patients with ongoing bleeding caused by PHE were treated. The correlation of the CE scores of PHE with the clinical, laboratory, and endoscopic features was determined. Results: Of the 43 patients included in the study, 41 (95.3%) showed PHE findings. These included varices (67.4%), red spots (60.5%), erythema (44.2%), villous edema (46.5%), telangiectasia (16.3%), and polyps (16.3%). The CE scores varied from 0 to 8 ($mean{\pm}standard$ deviation, $4.09{\pm}1.8$). Five patients (11.6%) showed evidence of ongoing or recent bleeding due to PHE. Three of these five patients underwent endotherapy, and one patient underwent radiological coil placement. Conclusions: The PillCam SB3 CE system revealed a high prevalence of PHE in the patients with PH. Using this system, evidence of bleeding due to PHE was found in a small but definite proportion of the patients.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제44권6호
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• pp.269-274
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• 2018

Objectives: The incidence and patterns of mandibular fractures vary by country and population age. This retrospective study evaluated the etiologies and patterns of mandibular fractures in children. Materials and Methods: The clinical records of 89 children (45 males and 44 females) aged 0 to 12 years who presented with mandibular fractures from July 2012 to June 2016 were retrospectively reviewed. The sex, patient age, site of fracture, etiology of trauma, and monthly variations of the fractures were recorded. Descriptive statistics, the z-test and chi-square test were used for statistical analysis and the P-value was set at <0.05. Results: Eighty-nine children (male-to-female ratio 1.02:1) sustained 131 mandibular fractures. Within the study sample, the 6 to 9 year age group most frequently experienced fractures (47.3%). Falls and road traffic accidents (RTA) were the two most common etiological factors that accounted for 44.9% and 24.7% of cases. The condylar fracture was the most common anatomical location (38.9%) followed by the angle (20.6%), parasymphysis (18.3%), body (15.3%), and symphysis (5.3%). A single fracture (51.7%) was more common than multiple fractures (48.3%). The month-wise distribution of mandibular fractures was fairly constant. Conclusion: The condylar region was the most common anatomic site for fractures; in addition, a fall and RTA were the major etiological factors for mandibular fractures. A single fracture was observed in 51.7% of patients while multiple fracture lines accounted for 48.3% of cases.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• 대한치과의사협회지
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• 제56권11호
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• pp.598-604
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• 2018

Cervicofacial subcutaneous emphysema is defined as the abnormal introduction of air into the subcutaneous tissues of the head and neck. It is mainly iatrogenic and traumatic in origin. Our two case reports are also due to the same cause, but the features of the trauma and the site of the dental treatment are different from the existing reports. A 29-year-old man visited our hospital with facial swelling and pain after experiencing facial trauma in a soccer game. Another 55-year-old woman visited with similar symptoms after replacement of her maxillary anterior fixed prosthesis. In the two cases presented, subcutaneous emphysema was gradually treated with no complications during antibiotic prophylaxis and supportive care. In this paper, we report two cases of traumatic and iatrogenic subcutaneous emphysema and their diagnoses, etiologies, complications, and treatments based on a literature review.

• 대한의생명과학회지
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• 제29권3호
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• pp.95-102
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• 2023

The inner ear constitutes a complex organ responsible for auditory perception and equilibrium. It comprises diverse cellular entities operating collaboratively to perceive and transmit sensory information to the brain. Inner ear disease is a sophisticated and multifactorial scenario substantially impacting the quality of life of affected individuals. Gaining insights into the developmental process of the inner ear is crucial for diagnosing and treating inner ear diseases, which can lead to hearing loss and impaired balance. Recent research in inner ear development and associated pathophysiology has focused on several pivotal domains, including identifying new genes and signaling pathways involved in inner ear development, using stem cells for inner ear regeneration, and developing novel therapies for inner ear diseases. Recent advances in genetics research have shed new light on the fundamental etiologies of inner ear diseases, with a growing body of evidence suggesting that genetic mutations might exert a pivotal influence on the development and progression of this condition. In this review, we have delved into certain common genetic mutations linked to inner ear disorders. We also discussed ongoing research endeavors and future directions for understanding the genetic mechanisms underlying this condition and potential therapeutic avenues.

• Fisheries and Aquatic Sciences
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• 제27권1호
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• pp.17-22
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• 2024

Diabetes Mellitus (DM) is a major health issue increasing worldwide. Currently, nearby half a billion people have diabetes. Two major types of DM that type 1 and type 2-DM have different etiologies but feature a crucial common pathological transition into dysfunction of pancreatic β-cells and consequently leading hyperglycemia and finally go into DM. Therefore, maintaining of β-cells such as preventing β-cells degeneration, and promoting β-cells regeneration and proliferation will be essential approaches in prevention and/or treatment of DM. There are many reports that various types of seaweed control metabolic diseases such as obesity, high blood pressure, and blood sugar control. However, no new drug candidates have been developed yet. Additionally, although seaweed has excellent blood sugar control effects, there is no evidence that it directly proliferates or regenerates beta cells. Therefore, we studied on the promotion of β-cell regeneration by a seaweed, Polysiponia morrowii extract (PME) which preserves β-cells and maintains its function. As a result, it was confirmed that PME directly promotes the proliferation of pancreatic islet β-cells with insulin secretion function in in vivo. Therefore, PME shows potential as a candidate for β-cell regeneration that may play a fundamental role in the treatment of diabetes.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권2호
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• pp.98-103
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• 2014

Purpose: Gallbladder (GB) wall thickening can be found in various conditions unrelated to intrinsic GB disease. We investigated the predisposing etiologies and the outcome of acalculous GB wall thickening in children. Methods: We retrospectively analyzed 67 children with acalculous GB wall thickening who had visited our institute from June 2010 to June 2013. GB wall thickening was defined as a GB wall diameter > 3.5 mm on abdominal ultrasound examination or computed tomography. Underlying diseases associated with GB wall thickening, treatment, and outcomes were studied. Results: There were 36 boys and 31 girls (mean age, $8.5{\pm}4.8years$ [range, 7 months-16 years]). Systemic infection in 24 patients (35.8%), acute hepatitis in 18 (26.9%), systemic disease in 11 (16.4%), hemophagocytic lymphohistiocytosis in 4 (6.0%), acute pancreatitis in 3 (4.5%), and specific liver disease in 3 (4.5%) predisposed patients to GB wall thickening. Systemic infections were caused by bacteria in 10 patients (41.7%), viruses in 5 patients (20.8%), and fungi in 2 patients (8.3%). Systemic diseases observed were systemic lupus erythematosus in 2, drug-induced hypersensitivity in 2, congestive heart failure in 2, renal disorder in 2. Sixty-one patients (91.0%) received symptomatic treatments or treatment for underlying diseases. Five patients (7.5%) died from underlying diseases. Cholecystectomy was performed in 3 patients during treatment of the underlying disease. Conclusion: A wide range of extracholecystic conditions cause diffuse GB wall thickening that resolves spontaneously or with treatment of underlying diseases. Surgical treatments should be avoided if there are no definite clinical manifestations of cholecystitis.

• Annals of Clinical Neurophysiology
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• 제14권1호
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• pp.29-35
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• 2012

Background: Peripheral neuropathy is the most frequent neurological complication in human immunodeficiency virus (HIV) infection, related with diverse etiologies including inflammation, opportunistic infection and side effects of medications. The purpose of the present study was to evaluate characteristics of HIV associated neuropathy according to the stage of HIV infection. Methods: In reviewing the medical records of HIV patients who underwent electrodiagnostic studies between 1997 and 2011, total 11 patients (all males; median age, 47 years; range, 28-71 years) with comorbid neuropathy were enrolled. Stage of HIV infection was categorized according to the Centers for Disease Control and Prevention (CDC) criteria. Classification of peripheral neuropathy was based on clinical and electrophysiological features. Results: Distal symmetric polyneuropathy was observed in 8 patients (72.7%), inflammatory demyelinating polyneuropathy in 2 patients (18.1%), and polyradiculopathy in 1 patient (9.1%). Median CD4+ T cell count was $123/mm^3$ (range, $8-540/mm^3$) and 7 patients (60%) had the most advanced HIV disease stage (CDC-C3). There was no neuropathy caused by CMV infection. Conclusions: Distal symmetric polyneuropathy was the most common type of neuropathy in HIV infection, but various forms of neuropathy such as inflammatory demyelinating polyneuropathy and polyradiculopathy were also present. HIV associated neuropathy is more frequently associated with advancing immunosuppression, although it can occur in all stages of HIV infection.

• 대한두경부종양학회지
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• 제36권2호
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• pp.27-31
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• 2020

Neck mass has various etiologies, including inflammatory, congenital, neoplastic causes. The IgG4-related disease can cause symptoms in the head and neck areas with an inflammatory neck mass. It also shows clinical and pathological findings from inflammation caused by immune reactions, such as lymphocyte and plasma cell infiltration, storiform fibrosis, obliteration phlebitis, and invigorated serum IgG4 levels. The treatment guideline has not been established and still under debate, but systemic glucocorticoid seems to be effective in the most cases. In this brief report, a 48-year-old male patient presented with voice change for 3 weeks. Left side paramedian vocal fold palsy was observed in the flexible laryngoscopy. About 2.5×2.0×1.2cm size, heterogeneously enhanced neck mass with irregular margin encasing left carotid artery was noted on preoperative contrast enhanced neck CT scan, and it was suspicious of left carotid body tumor. The pathology shows IgG4-related disease rather than carotid body tumors. We report this case of IgG4-related disease, which can be misdiagnosed to carotid body tumors.