• 대한치과의사협회지
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• 제57권2호
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• pp.93-99
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• 2019

Ectodermal dysplasia is a genetic disorder in which various clinical manifestations involve two or more of the differentiated tissues of the ectoderm. Facial deformity, which is frequently associated with ectodermal dysplasia, appears in the form of cleft lip or cleft palate, especially in the middle facial area.Cleft and tooth defects result in decreased alveolar bone development.This leads to severe skeletal incongruity. Facial features include frontal protrusion, malar bone hypoplasia, flat nose, mandibular prominence and long lower facial height. This clinical report presents treatment including orthognathic surgery of a patient with Hypohidrotic Ectodermal dysplasia with cleft palate.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Bulletin of the Korean Chemical Society
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• 제9권3호
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• pp.171-175
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• 1988

The spectral properties of piroxicam in different solvents are similar to those of its skeletal precursor, HMBDC. The maximum absorption and emission wavelengths strongly depend on the hydrogen bonding ability of the solvent, and it is shown that intramolecular hydrogen bonding between the -OH and the ortho carbonyl group of the parent benzothiazine ring plays an important role in the solvent-dependence of their spectroscopic properties. The fluorescence spectra in aprotic nonpolar solvent exhibit abnormally large Stokes-shifted (${\sim}9,000cm^{-1}$) emission bands in contrast to the spectra in water. In ethanol, dual emission bands with two different fractional components of lifetimes have been observed. These results suggest that the abnormally red-shifted emission is attributed to the proton transferred form of an intramolecularly hydrogen-bonded closed conformer.

• Journal of Species Research
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• 제10권2호
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• pp.168-183
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• 2021

Ten new species of two families (Suberitidae and Polymastidae) are described from Korea. Six new species in Suberitidae: Plicatellopsis ramosa n. sp., Pseudosuberites anheungensis n. sp. P. youngilensis n. sp., Suberites hwasunensis n. sp., S. chujaensis n. sp. and S. rugosa n. sp. are compared with other similar reported species. All new species differ from previously reported species in morphology, texture, color, skeletal structure, and spicule type. Four new species in Polymastidae: Polymastia fistula n. sp., P. sasuensis n. sp., P. viridis n. sp., and Weberella haengwonensis n. sp. are different from previously reported species in the growth form of papillaes and fistules, color and spicule types. For example, Weberella haengwonensis is similar to Weberella verrucosa in shape, but differs based on surface papillaes and spicule sizes.

• Investigative Magnetic Resonance Imaging
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• 제25권1호
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• pp.53-58
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• 2021

Polyarteritis nodosa (PAN) is a systemic vasculitis involving small- and medium-sized arteries, which presents with necrotizing inflammation. PAN occurs as a systemic disease or as a limited form confined to a single organ. Few cases have been reported with single organ involvement, and even fewer have been reported with skeletal muscle involvement. Herein, we report the ultrasonography and magnetic resonance imaging findings in a rare case of PAN with limited muscle involvement in a 66-year-old man.

• 대한치과교정학회지
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• 제31권5호
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• pp.499-504
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• 2001

하악골 횡적 성장결핍에 의한 하악 전치부의 총생을 치료하는데 성인의 경우 발치가 종종 요구된다. 그러나 발치에 의한 안모 변화가 바람직하지 않을 때 견인골 신장술을 시행하여 하악 정중부의 확장은 횡적 공간을 확보하여 빠른 교정치료 및 안정성을 확보할 수 있는 방법으로 고려된다. 하악 정중부 견인골 신장술을 시행한 후 tooth-borne type 과 tooth & bone-borne type distractor를 사용하여 latency, distraction, consolidation period를 거쳐 하악 정중부 횡적 확장을 시행하여 전치부 총생을 빠르게 치료할 수 있었으며, 두가지 방법에 의한 치유과정을 비교한 결과 치주적인 요소와 골 형성과정은 유사하였으며, 악관절 부위의 퇴행적 증상변화는 관찰되지 않았다.

• 대한의생명과학회지
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• 제8권3호
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• pp.195-202
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• 2002

Osteoarthritis (OA), the most common form of arthritis, involves the destabilization of the normal balance between the degradation and the synthesis of articular cartilage and subchondral bone within a joint. As articular cartilage degrades over time, its smooth surface roughens and bone-against-bone contact ensues, producing the inflammation response symptomatic of this 'wear and tear' disease. Although a variety of genetic, developmental, metabolic, and traumatic factors may initiate the development of osteoarthritis, its symptoms (joint pain, stiffness, and curtailed function) typically evolve slowly, and patients experience periods of relative calm alternation with episodes of inflammation and pain. Rheumatoid arthritis (RA), an autoimmune disease of unknown etiology characterized by chronic synovitis and cartilage destruction, affect 1% of the total population. Cartilage is a specialized connective tissue in which the chondrocytes occupy only 5% of the volume. Cartilage is particularly rich in extracellular matrix, with matrix making up 90% of the dry weight of the tissue chondrocytes have cell processes that extend a short distance into the matrix, but do not touch other cells thus in cartilage, cell-matrix interactions are essential for the maintenance of the extracellular matrix. In this study, subtractive hybridization method was utilized to detect genes differentially expressed in chondrocytes treated with methylprednisolone. We have isolated 57 genes that expressed differentially in the chondreocytes by methylprednisolone. 13 clones of them were analyzed with sequencing and their homologies were searched. 8 cDNAS included KIAA 0368, upregulated during skeletal muscle growth 5 (usmg 5), ribosomal protein S 18 (RPS 18), skeletal muscle ryanodine receptor, radial spoke protein 3 (RSP 3), ribosomal protein QM, ribosomal protein L37a (RPL37A), cytochrome coxidase subunit VIII (COX8).

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• 대한한방부인과학회지
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• 제23권3호
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• pp.192-204
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• 2010

Purpose: Sanhupung's pathological conditions is different from non-postpartum's disease. So it is important to analyze Sanhupung's construction, onset factors and Oriental theraphy. Methods: We studied 104 Sanhupung women visiting $\bigcirc\bigcirc$ hospital form January 2008 to December 2009. We analyzed the general characteristics, kinds of symptoms and Oriental theraphy's present condition. Also We compared patients' age, the number of live births and delivery month to the National Statistical Office's results. Results: 1. Patients over the age of 30, who have one child and who gave birth in September(14.42%) and in Summer(43.26%) occupied the highest percentage. But delivery method was not correlated with Sanhupung. 2. Musculo-skeletal symptoms(42.13%) were the most common symptoms. Wrist, waist, knees(59.59%) were the most common pain areas and the other pain symptoms (40.21%) appeared a significant portion of cases respectively. 3. In the 21~30days after delivery, the most patients visited. The number of patients admitted within 30 days after delivery or within 90 days was small comparing with Sanhupung onset. Patients treated within 10 days(47.12%) and treated only herb medicine(54.90%) were the most common. And the patients responded satisfacion or over were 88.46%. Conclusion: Patients' age, the number of born babies, delivery time were correlated with Sanhupung symptoms, but the method of delivery was not associated. And musculo-skeletal symptoms were the most common symptoms. Sanhupung patient's treatment period and methods were limited.

• Bulletin of the Korean Chemical Society
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• 제35권3호
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• pp.875-880
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• 2014

Adsorption of 4,4'-bis(mercaptomethyl)biphenyl (44BMBP) on silver nanoparticles has been investigated by surface-enhanced Raman scattering (SERS) spectroscopy. In addition, the Raman spectra of 44BMBP in solid state and in basic condition have been obtained for comparative study to elicit the characteristics of adsorption. The observed Raman and SERS spectra were analyzed comparing with the normal modes and vibrational frequencies from density functional theory (DFT) calculations performed for the feasible structures of 44BMBP molecule. On the basis of excellent agreement between the calculated and the experimental results, the molecule is found to have both the cis- and trans-forms for the mercaptomethyl groups in the solid state as well as in the basic condition. In contrast, the molecule is found to be chemisorbed on the silver surface by forming two Ag-S linkages only in the cis-form but not in the trans-form due to the steric interruption, which indicates the parallel orientation of molecules on the surface. Particularly, the spectral features in the SERS spectra such as the absence of the C-H stretching band and enhancement for the out-of-plane skeletal modes are confirmatory for the parallel geometry through ${\pi}$ interaction between the phenyl rings and the metal surface, based on the electromagnetic surface selection rule.