왜소증 성인의 마이너신체성에 관한 생애사적 고찰

김정란,조홍중 한국지체.중복.건강장애교육학회 2015 지체.중복.건강장애연구 Vol.58 No.4

This study aims to examine various experiences in minor bodily characteristics existing in the lives of adults with dwarfism in detail and depth. Also, it is intended to qualitatively explore their efforts, frustrations, and experiential wisdom of hope. The methodology of the study was as follows. Two adults with dwarfism were interviewed in-depth. Subject articulation was made in the process of analyzing data obtained from participant observation. Data were classified and domainized to reconstruct participants’ lives, as suggested by Spradley. Finally, the lives of adults with dwarfism were reconstructed and interpreted to establish relationships using domain analysis and taxonomic analysis. This study discussed “the double life such as Hobbit and Quasimodoz”, “adult’s life on minor bodily characteristics living by child’s looks”, and “the life of limitation and rejection in the name of consideration” that was revealed as the meaning of adults with dwarfism’s experiences. 본 연구에서는 왜소증 성인들의 삶속에 존재하는 왜소증 성인의 마이너 신체성에 대한 다양한 경험들을 구체적이고 심층적으로 살펴보고, 이러한 과정을 통해 왜소증 성인들이 지금까지 살아오면서 겪었던 노력과 좌절 그리고 희망에 대한 체험적 지혜를 질적으로 탐색하고자 하였다. 구체적인 연구방법은 2명의 왜소증 성인을 대상으로 심층면담, 참여관찰에서 얻어진 자료를 분석하는 과정을 통해 주제를 명료화시킴으로써 연구참여자가 살아온 경험을 보다 구체적으로 재구성하기 위해서 Spradley가 제시한 것처럼 자료를 전체적으로 영역화하고 분류하여 그 각각의 관계가 설정되도록 영역분석(domain analysis)과 분류분석(taxonomic analysis)을 통해서 왜소증 성인의 생애를 재구성하고 해석하였다. 본 연구에서는 왜소증 성인의 경험의 의미로 밝혀진〈호빗과 콰지모토와 같은 이중적인 삶〉,〈아이의 외모로 사는 어른의 마이너 신체성에 대한 삶〉,〈배려라는 이름의 제한, 거부된 삶〉에 대해서 논의하였다.

A Case of Pituitary Dwarfism in a Dog: Improvement of Alopecia with Oral Melatonin

오승국,백대승,김윤혜,김남수,김종훈,김남정,정태호,김주민,박진호,박철 한국임상수의학회 2014 한국임상수의학회지 Vol.31 No.4

A 13-month old, intact female, miniature Schnauzer dog was presented with history of dermatitis, pruritusand pain of ear pinnae with delayed puberty. The basal serum growth hormone level was 0.01 ng/ml, which was muchlower than the reference range (1.80-2.00 ng/ml). On the xylazine stimulation test, the dog was no responsive toadministration of xylazine. The dog was diagnosed as isolated type pituitary dwarfism. Treatment was aimed to improvealopecia with oral melatonin. After initiation of treatment, alopecia of the ear pinnae has been improved.

A diagnosis of hypochondroplasia by next generation sequencing

Ahn, Seok Min,Kim, Young Han,Baek, Jun Woo,Bae, Eun Ju,Lee, Hong Jin Korean Society of Medical Genetics and Genomics 2016 대한의학유전학회지 Vol.13 No.1

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

A diagnosis of hypochondroplasia by next generation sequencing

Seok Min Ahn,Young Han Kim,Jun Woo Baek,Eun Ju Bae,Hong Jin Lee 대한의학유전학회 2016 대한의학유전학회지 Vol.13 No.1

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

Thanatophoric Dwarfism 1례

서규표,김병용,박손원,윤성도 啓明大學校 醫科大學 1993 계명의대학술지 Vol.12 No.1

Thanatophoric dwarfism is the term applied to a distinctive, lethal form of bone dysplasia described by Maroteax et al. in 1967. Authors experienced a case of fetal dwarfism on antenatal ultrasound and flat abdominal X-ray examinations. The baby was delivered by induction of labor. Diagnosis was confirmed to thanatophoric dwarfism by clinical features, radiological and autopsy findings.

소두증 골형성이상 원발성 왜소증 제 II 형의 치과적 특성

박해민,송지수,신터전,현홍근,김영재,이상훈,김정욱,Park, Haemin,Song, Ji-Soo,Shin, Teo Jeon,Hyun, Hong-Keun,Kim, Young-Jae,Lee, Sang-Hoon,Kim, Jung-Wook 대한소아치과학회 2021 大韓小兒齒科學會誌 Vol.48 No.1

소두증 골형성이상 원발성 왜소증 제 II 형(MOPD II)은 원발성 왜소증의 일종으로 pericentrin 유전자의 돌연변이에 의해 유발되며 상염색체 열성으로 유전된다. 이번 연구는 MOPD II의 임상적 및 방사선학적 소견과 더불어 치아의 물리화학적 특성 및 미세구조에 대한 분석을 목적으로 하였다. MOPD II 환자의 발치된 하악 제2대구치를 대상으로 하였으며 미세 전산화 단층 촬영, 주사형 전자 현미경과 에너지 분산형 분광분석법 및 비커스 미세경도 분석을 이용하여 분석하였다. MOPD II 치아는 정상 치아와 비교 시 치근 및 치수의 이형성을 보였으며 크기가 작았다. 치아의 무기질 밀도는 법랑질에서는 비슷한 값을 보였으며 상아질에서는 치근 1/2 및 치근단 부위에서 MOPD II 치아가 정상 치아보다 작게 나타났다. 미세경도의 비교 시 교두 법랑질과 치근 1/2 및 치근단 부위의 상아질에서 MOPD II 치아의 미세경도가 정상 치아보다 작게 나타났다. 이 연구에서는 MOPD II의 치과적인 특징 및 치아의 물리화학적 특성에 대하여 분석함으로써, 질환의 구강 내 소견에 대한 이해도를 높이고 치과 치료 시 주의점을 확인하여 적절한 치료를 하는데 도움이 되고자 하였다. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive inherited disorder form of primordial dwarfism, caused by mutations in the pericentrin gene. The purpose of the study was to examine the clinical and radiological features, physicochemical properties and microstructures of the tooth affected with MOPD II. The mandibular 2nd molar was collected from the MOPD II patient. Micro-computerized tomography, scanning electron microscopy, energy dispersive spectrometry and Vickers microhardness analysis were performed on the MOPD II and the normal control. The morphology of the MOPD II tooth appeared to have malformed pulp and root and showed a small size. The mineral density measurement showed that the MOPD II tooth had similar scores in the enamel, but lower scores in the root 1/2 and apical dentin compared to the normal control. The microhardness values were smaller in the cusp enamel, root 1/2 dentin and apical dentin of the MOPD II compared to the normal control. In this study, the dental characteristics and the physicochemical properties of a tooth affected with MOPD II were analyzed to improve understanding of the oral manifestations of the disease and to assist in proper dental treatment by identifying precautions.

Characterization and mapping of d13, a dwarfing mutant gene, in rice

Md. Babul Akter,Rihua Piao,Reflinur,Md. Lutfor Rahman,이윤주,서정환,김백기,고희종 한국유전학회 2015 Genes & Genomics Vol.37 No.11

Plant height is one of the most important agronomic traits in crop breeding because dwarf and semidwarf cultivars are resistant to lodging and have led to remarkable yield increases in cereal crops. Although several genes related to gibberellins signaling or biosynthesis resulting in dwarfism have been isolated, however, lots of causal genes controlling dwarfism remain to be uncovered. We characterized a dwarf mutant (ID13) in rice. The mutant displayed several altered phenotypes compared to the wild type, such as reduced plant height, increased tiller number, short and rounded leaf tips, presence of a yellowish stripe on the leaf blade, late and asynchronous heading, strong root systems, short erect panicle, smaller seed size, etc. The dwarfism of the mutant was responsive to gibberellic acid (GA), based on the analyses of two GAmediated processes. Anatomical observations revealed that the mutant plants had fewer vascular bundles and reduced cell size compared with wild type plants. Genetic analysis indicated that the dwarf mutant was controlled by a single recessive gene, d13, which was flanked by two STS markers, DMR-3 and S5789, within the physical distance of 265 kb around the centromeric region on chromosome 9. Cloning and functional analysis is in progress.

Activation of C2H2-type Zinc Finger Genes Induces Dwarfism in Arabidopsis thaliana

Sendon, Pamella Marie,Oo, Moe Moe,Park, Jong-Beum,Lee, Byung Ha,Kim, Jeong Hoe,Seo, Hak Soo,Park, Soon-Ki,Song, Jong Tae The Korean Society for Applied Biological Chemistr 2014 Applied Biological Chemistry (Appl Biol Chem) Vol.57 No.1

Zinc finger proteins compose one of the largest transcription factor families in plants, but only a handful have been functionally specified in plant growth. In this study, a semi-dominant mutant, Arabidopsis thaliana dwarf1 (Atdwa1), was discovered from activation tagging screening using the SKI015 T-DNA vector. The Atdwa1 mutant displayed severe dwarfism and loss of apical dominance, as well as other pleiotropic defects, such as earlier flowering, fewer leaves, and shorter sliliques than those of the wild-type plant. Thermal asymmetric interlaced-polymerase chain reaction analysis revealed that activated T-DNA was inserted into the At5g54330 gene, disrupting its coding sequence. We also demonstrated that At5g54330 expression was nullified by the insertion, whereas expression of its downstream genes, At5g54340, At5g54350, and At5g54360, were activated. A database search revealed that all three downstream genes encode proteins related to C2H2-type zinc finger proteins. Overexpression of each gene resulted in dwarfism similar to that of Atdwa1. These findings indicate that Atdwa1 mutant was caused by synergistic manifestation of concomitant activation of At5g54340 to At5g54360, and that the zinc finger proteins may play a role in regulation of plant growth and development.

Activation of C2H2-type Zinc Finger Genes Induces Dwarfism in Arabidopsis thaliana

Pamella Marie Sendon,Moe Moe Oo,박종범,이병하,김정회,서학수,박순기,송종태 한국응용생명화학회 2014 Applied Biological Chemistry (Appl Biol Chem) Vol.57 No.1

Zinc finger proteins compose one of the largesttranscription factor families in plants, but only a handful havebeen functionally specified in plant growth. In this study, a semidominantmutant, Arabidopsis thaliana dwarf1 (Atdwa1), wasdiscovered from activation tagging screening using the SKI015 TDNAvector. The Atdwa1 mutant displayed severe dwarfism andloss of apical dominance, as well as other pleiotropic defects, suchas earlier flowering, fewer leaves, and shorter sliliques than thoseof the wild-type plant. Thermal asymmetric interlaced- polymerasechain reaction analysis revealed that activated T-DNA wasinserted into the At5g54330 gene, disrupting its coding sequence. We also demonstrated that At5g54330 expression was nullified bythe insertion, whereas expression of its downstream genes,At5g54340, At5g54350, and At5g54360, were activated. Adatabase search revealed that all three downstream genes encodeproteins related to C2H2-type zinc finger proteins. Overexpressionof each gene resulted in dwarfism similar to that of Atdwa1. Thesefindings indicate that Atdwa1 mutant was caused by synergisticmanifestation of concomitant activation of At5g54340 toAt5g54360, and that the zinc finger proteins may play a role inregulation of plant growth and development.

Cerebrovascular Arteriopathy in Microcephalic Osteodysplastic Primordial Dwarfism Type II

Lee Seul Bi,Lee Seunghyun,Choi Young Hun,Cho Yeon Jin,Cheon Jung-Eun 대한자기공명의과학회 2023 Investigative Magnetic Resonance Imaging Vol.27 No.2

Microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) is a rare disease with characteristic skeletal abnormalities and severe comorbidities related to cerebrovascular diseases. It is frequently associated with early onset cerebrovascular diseases due to its predisposition to intracranial arteriopathies such as aneurysms and moyamoya syndrome. Herein, we report cases of two siblings presenting with multiple cerebral aneurysms and moyamoya syndrome. Two brothers with short stature were genetically diagnosed with MOPD-II at the age of 18 years and 9 years. Magnetic resonance angiography of the brother at the age of 20 years demonstrated a ruptured left A2 aneurysm with multiple variable-sized aneurysms in intracerebral arteries. The younger brother underwent brain imaging for screening at the age of 12 years which revealed a sizable basilar top aneurysm, multiple tiny aneurysms, and steno-occlusive changes in the left A1 and M1. In conclusion, cerebrovascular arteriopathy was diagnosed using brain magnetic resonance imaging in a pediatric patient with MOPD-II. Cerebrovascular comorbidities can occur at any point in life. It can lead to disability or death. Therefore, routine screening for cerebrovascular comorbidities in patients with MOPD-II who have reached adolescence is recommended.