• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.2
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• pp.121-124
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• 2014

Omega (${\omega}$)-3 polyunsaturated fatty acids appear to be effective in preventing and treating parenteral nutrition-associated liver disease, and several mechanisms were proposed for this observation. An 8-week-old male infant with cholestasis and acholic stool was diagnosed non-syndromic intrahepatic interlobular bile duct paucity by open-wedge liver biopsy. Initially he was treated with usual supportive medical therapy, including ursodeoxycholic acid. However, the clinical status and laboratory tests did not improve. Omega (${\omega}$)-3 polyunsaturated fatty acids (initially intravenous administration and oral administration later), were started and his liver function, including aminotransferase level and bilirubin levels normalized, and the ivory stool color turned green. We report the possible effectiveness of ${\omega}$-3 polyunsaturated fatty acids as a potent choleretic agent for non-syndromic intrahepatic interlobular bile duct paucity, a very rare structural pediatric hepatic disease.

• Journal of Audiology & Otology
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• v.23 no.1
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Korean Journal of Audiology
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• v.23 no.1
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Korean Journal of Cleft Lip And Palate
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• v.10 no.2
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• pp.81-88
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• 2007

Cleft lip and palate (CLP) is one of the most prevalent congenital craniofacial anomalies. It has a significantly greater incidence of dental abnormalities in number, size, shape, and eruption of the teeth. Knout-out mouse model can identify several genes which play an important role in tooth agenesis. Since disruption of these genes has been confirmed to result in tooth agenesis in humans, CLP associated with hypodontia may be the best models for isolated tooth agenesis. According to the studies of dental abnormalities in CLP, the severity of dental defect is known to be influenced by the CLP phenotype. The cumulative data obtained from mouse and human genetic studies indicated that MSX1, PAX9 and AXIN2 are considered as candidate genes in non-syndromic hypodontia, while Shh, Pitx2, Irf6, p63 and EDA pathway genes are involved in syndromic one. We expect that genetic approach of CLP can offer the basis for tooth regeneration and be a new target in hypodontia therapy.

• Imaging Science in Dentistry
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• v.51 no.3
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• pp.291-297
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• 2021

Purpose: This study was performed to evaluate the prevalence, distribution, and radiological features (as per the Shear classification) of dentigerous cysts in a Lebanese sample. Materials and Methods: It was an epidemiological, cross-sectional, 5-year retrospective study of 137 dentigerous cysts treated at Lebanese Army Dental Departments. The collected data comprised demographic and radiological information corresponding to patients from July 2015 to July 2020. Syndromic cases were excluded. Demographic data and the radiological features of cases were studied and analyzed. Results: Dentigerous cysts were treated in 109 patients (58.7% males and 41.3% females; mean age: 28.3±16.3 years) out of 6,013 patients(52% males and 48% females), with a prevalence of 1.8%. Dentigerous cysts were more commonly found in patients in their second and third decades of life than in older age groups. Of the 109 patients, 22.9% had multiple dentigerous cysts. Of the 137 cysts, 71.5% were mandibular. The most prevalent anatomical location was the posterior mandible, followed by the posterior maxilla. The most commonly involved tooth was the mandibular third molar. Regarding radiological types, the central type was the most common (60.6%), followed by the lateral type (29.2%), and the circumferential type (10.2%). Conclusion: The results of this study were similar to studies of other populations in terms of distribution and features. Multiple non-syndromic dentigerous cysts were more common than reported in other studies, which warrants further clinical studies to reveal previously undetected factors.

• Archives of Plastic Surgery
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• v.38 no.4
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• pp.512-515
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• 2011

Purpose: Osteoma is one of the common benign tumors of the skull vault and facial skeleton. Although most of the osteomas cause no symptoms, forehead osteomas may lead to facial disfigurement. Osteoma usually happens in solitary lesion and multiple osteomas which don't combine with syndrome are very rare. We report an experience of treatment of non-syndromic multiple osteomas in the skull. Methods: A 54-year-old female patient visited due to the multiple palpable hard masses on her forehead in 2010. In 2002 of her first visit, masses started to appear on her forehead and she was diagnosed as the osteoma by excisional biopsy. She visited again because the mass size and number increased. In preoperative CT scanning, there were above 160 of osteomas, so surgery was planned. Enterogastroduodenoscopy and colonoscopy was conducted to rule out Gardener's syndrome, however there was no abnormality such as multiple polyposis. Results: Under general anesthesia, coronal approach was conducted. There were numerous osteomas in frontal and parietal bone. The multiple osteomas were removed by burring and the patient recovered without any postoperative complications. Conclusion: Multiple osteomas in the skull were rarely reported, although it can accompanied with Gardener's syndrome. We report a case of non-syndromic multiple osteomas in skull vault.

• The korean journal of orthodontics
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• v.51 no.5
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• pp.355-362
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• 2021

Objective: This study aimed to establish the prevalence and patterns of nonsyndromic tooth agenesis in patients referred to a tertiary health care facility. Methods: The intraoral records and panoramic radiographs of 9,874 patients aged 12-22 years were evaluated. The study group included 716 patients (371 male, 345 female) with non-syndromic agenesis of at least one tooth (except the third molars). The study data were assessed using descriptive statistics, chi-square test, and Mann-Whitney U test, while patterns were evaluated using a tooth agenesis code (TAC) tool. Results: A total of 1,627 congenitally missing teeth, were found in patients with non-syndromic tooth agenesis, with an average of 2.27 missing teeth per patient. The prevalence of tooth agenesis was 7.25%, and the most commonly missing teeth were the left mandibular second premolars (10.17%). The age group comparison revealed no significant difference in the median number of missing teeth per patient according to the cutoff values for ages between 12 and 22 years. When the missing teeth were examined separately according to quadrants, 114 different tooth agenesis patterns (upper right quadrant = 28, upper left quadrant = 27, lower left quadrant = 31, and lower right quadrant = 28) were identified, and 81 of these patterns appeared only once. Conclusions: This study highlights the benefits of applying the TAC tool in a large sample population. The application of the TAC tool in such studies will enable the development of template treatment plans by determining homogenous patterns of tooth agenesis in certain populations.

• Biomedical Science Letters
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• v.12 no.4
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• pp.311-318
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• 2006

The GJB2 mutation is mostly recessive in non-syndromic hearing loss, but specific mutations display a dominant type and syndromic hearing impairment. Both U54K and R75Q mutations present a dominant type in pedigrees with associated skin disorders. The purpose of this study was to investigate whether two GJB2 mutations can exhibit a dominant-negative effect on the growth abrogation and the gap junctional intercellular communication capacity exerted by wild-type connexin 26. A specific mutant region of GJB2 showed a loss of gap junction activity and a dominant negative effect on wild-type GJB2. The two mutants exerted a dominant-negative effect on the GJIC capacity and have independently effected GJB2 regulated growth of Hela cells; however, they have no dominant-negative growth effect on wild-type GJB2. It is proposed that the different mechanisms of the dominant-negative effect on wild-type GJB2 involve cell growth and GJIC function. This study describes mutations found in Korean deaf patients and that are typical of other east Asian regions.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.2
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• pp.93-111
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• 2023

The authors investigated the artistic characteristics of autistic savant artists, hypotheses on the proximate and ultimate causes of their emergence, recent psychological and other studies about them, and psychological and neuroaesthetic studies about non-savant autistic individuals. The artistic features of autistic savant artists were significantly similar to those of outsider artists. Furthermore, the authors investigated the explanatory power of the paradoxical functional facilitation theory, the superior visual perception hypothesis, the "Hmmmmm" hypothesis, and the Neanderthal theory of autism regarding the emergence of autistic savant artists. In addition, we investigated whether an increase in savant characteristics was related to a decrease in the ability for social communication. The authors suggested that in studies on the aesthetic experience of non-savant autistic individuals, their aesthetic experience ability is never lower than that of neurotypical individuals and that some non-savant autistic individuals may potentially have artistic talent. Finally, the authors reviewed the effectiveness of the "autism savant spectrum syndromic disorder" proposed by some researchers. More scientific and systematic studies on autistic savant artists from a multidisciplinary perspective are warranted.

• The Journal of the Korean dental association
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• v.51 no.6
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• pp.322-329
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• 2013

Among the occlusal discrepancies, maxillary transverse deficiency is quite common in several reasons. The reasons are comprised of maxillary hypoplasia, thumb sucking habits, non-syndromic palatal synostosis and syndromal patients including cleft patients. Orthodontic treatment is used routinely to correct a deficiency in young patients while it has limitations for a skeletally mature patient. Surgical treatments help provide effective maxillary expansion to correct a deficiency in adults. Surgical methods can be categorized to segmental Le Fort I osteotomy and surgically assisted rapid maxillary expansion(SARME). Both methods seem successful but each method would have its own indication. We give a review on transverse maxillary deficiency and two surgical methods.