• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Korean Journal of Mineralogy and Petrology
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• v.34 no.2
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• pp.107-120
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• 2021

The Komdok Pb-Zn deposit, which is the largest Pb-Zn deposit in Korea, is located at the Hyesan-Riwon metallogenic zone in Jiao Liao Ji belt included Paleoproterozoic Macheolryeong group. The geology of this deposit consists of Paleoproterozoic metasedimentary rocks, Jurassic Mantapsan intrusive rocks and Cenozoic basalt. The Komdok deposit which is a SEDEX type deposit occurs as layer ore and vein ore in the Paleoproterozoic metasedimentary rocks. Based on mineral petrography and paragenesis, dolomites from this deposit are classified four types (1. dolomite (D₀) as hostrock, 2. early dolomite (D₁) associated with tremolite, actinolite, diopside, sphalerite and galena from amphibolite facies, 3. late dolomite (D₂) associated with talc, calcite, quartz, sphalerite and galena from amphibolite facies, 4. dolomite (D₃) associated with white mica, chlorite, sphalerite and galena from quartz vein). The structural formulars of dolomites are determined to be Ca_1.00-1.20Mg_0.80-0.99Fe_0.00-0.01Zn_0.00-0.02(CO₃)₂(D₀), Ca_1.00-1.02M_0.97-0.99Fe_0.00-0.01Zn_0.00-0.02(CO₃)₂(D₁), Ca_0.99-1.03Mg_0.93-0.98Fe_0.01-0.05Mn_0.00-0.01As_0.00-0.01(CO₃)₂(D₂) and Ca_0.95-1.04Mg_0.59-0.68Fe_0.30-0.36Mn_0.00-0.01 (CO₃)₂(D₃), respectively. It means that dolomites from Komdok deposit have higher content of trace elements (FeO, MnO, HfO₂, ZnO, PbO, Sb₂O₅ and As₂O₅) compared to the theoretical composition of dolomite. These trace elements (FeO, MnO, ZnO, Sb₂O₅ and As₂O₅) show increase and decrease trend according to paragenetic sequence, but HfO₂ and PbO elements no show increase and decrease trend according to paragenetic sequence. Dolomites correspond to Ferroan dolomite (D₀, D₁ and D₂), and Ferroan dolomite and ankerite (D₃), respectively. Therefore, 1) dolomite (D₀) as hostrock was formed by subsequent diagenesis after sedimentation of Paleoproterozoic (2012~1700 Ma) silica-bearing dolomite in the marine evaporative environment. 2) Early dolomite (D₁) was formed by hydrothermal metasomatism origined metamorphism (amphibolite facies) associated with intrusion (1890~1680 Ma) of Paleoproterozoic Riwon complex. 3) Late dolomte (D₂) was formed from residual fluid by a decrease of temperature and pressure. and dolomite (D₃) in quartz vein was formed by intrusion (213~181 Ma) of Jurassic Mantapsan intrusive rocks.

• Journal of the Mineralogical Society of Korea
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• v.32 no.2
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• pp.127-143
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• 2019

The geology of the Chulmasan area consists of Precambrain Sogeunri formation, granitic gneiss, foliated biotite granite, foliated mica granite, basic dyke and acidic dyke. REE mineralization in the area occurs at granitic gneiss and foliated mica granite. Minerals with minor amounts of REE and Th from granitic gneiss and foliated mica granite are zircon ($Y_2O_3$ 0.00~1.18 wt.%, $Gd_2O_3$ 0.00~0.59 wt.%, $Er_2O_3$ 0.00~0.22 wt.%, $Yb_2O_3$ 0.00~0.34 wt.%, $Lu_2O_3$ 0.00~0.48 wt.%, $ThO_2$ 0.00~0.33 wt.%), thorianite ($Nd_2O_3$ 0.00~0.24 wt.%, $Lu_2O_3$ 0.00~0.26 wt.%), berthierine ($La_2O_3$ 0.04~0.26 wt.%, $Nd_2O_3$ 0.00~0.20 wt.%, $Tb_2O_3$ 0.04~0.12 wt.%, $Dy_2O_3$ 0.17~0.26 wt.%, $Er_2O_3$ 0.33~0.44 wt.%, $Lu_2O_3$ 0.00~0.19 wt.%, $ThO_2$ 0.61~0.93 wt.%), chlorite ($La_2O_3$ 0.44~0.68 wt.%, $Ce_2O_3$ 0.12~0.13 wt.%, $Nd_2O_3$ 0.31~0.44 wt.%, $Eu_2O_3$ 0.03~0.08 wt.%, $Dy_2O_3$ 0.09~0.21 wt.%, $Ho_2O_3$ 0.04~0.14 wt.%, $Er_2O_3$ 0.18~0.32 wt.%, $Lu_2O_3$ 0.07~0.21 wt.%, $ThO_2$ 0.00~0.97 wt.%), biotite ($Nd_2O_3$ 0.02~0.08 wt.%, $Gd_2O_3$ 0.07~0.08 wt.%, $Tb_2O_3$ 0.02~0.07 wt.%, $Dy_2O_3$ 0.35~0.43 wt.%, $Ho_2O_3$ 0.15~0.26 wt.%, $Er_2O_3$ 0.24~0.28 wt.%, $Yb_2O_3$ 0.06~0.18 wt.%, $ThO_2$ 0.00~0.12 wt.%), orthoclase ($Dy_2O_3$ 0.05~0.12 wt.%, $Ho_2O_3$ 0.05~0.06 wt.%, $Er_2O_3$ 0.28 wt.%, $Yb_2O_3$ 0.06~0.12 wt.%) and plagioclase ($Ho_2O_3$ 0.01~0.03 wt.%, $Er_2O_3$ 0.10~0.27 wt.%, $ThO_2$ 0.11~0.13 wt.%). REE minerals (bastnaesite and fergusonite) were sealed fractures in mainly fledspar, mica, zircon, apatite and ilmenite. Therefore, bastnaesite and fergusonite from the Chulmasan area were formed from redissolution/reconcentration of REE-and Th-bearing minerals from granitic gneiss and foliated mica granite at late stage by several igneous activies and metamorphism.

• Korean Journal of Mineralogy and Petrology
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• v.34 no.3
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• pp.177-191
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• 2021

The Zhenzigou Pb-Zn deposit, one of the largest Pb-Zn deposit in the northeast of China, is located at the Qingchengzi mineral field in Jiao Liao Ji belt. The geology of this deposit consists of Archean granulite, Paleoproterozoinc migmatitic granite, Paleo-Mesoproterozoic sodic granite, Paleoproterozoic Liaohe group, Mesozoic diorite and monzoritic granite. The Zhenzigou deposit which is a strata bound SEDEX or SEDEX type deposit occurs as layer ore and vein ore in Langzishan formation and Dashiqiao formation of the Paleoproterozoic Liaohe group. Based on mineral petrography and paragenesis, dolomites from this deposit are classified three type (1. dolomite (D₀) as hostrock, 2. dolomite (D₁) in layer ore associated with white mica, quartz, K-feldspar, sphalerite, galena, pyrite, arsenopyrite from greenschist facies, 3. dolomite (D₂) in vein ore associated with quartz, apatite and pyrite from quartz vein). The structural formulars of dolomites are determined to be Ca_1.00-1.03Mg_0.94-0.98Fe_0.00-0.06As_0.00-0.01(CO₃)₂(D₀), Ca_0.97-1.16Mg_0.32-0.83Fe_0.10-0.50Mn_0.01-0.12Zn_0.00-0.01Pb_0.00-0.03As_0.00-0.01(CO₃)₂(D₁), Ca_1.00-1.01Mg_0.85-0.92Fe_0.06-0.11 Mn_0.01-0.03As_0.01(CO₃)₂(D₂), respectively. It means that dolomites from the Zhenzigou deposit have higher content of trace elements compared to the theoretical composition of dolomite. Feo and MnO contents of these dolomites (D₀, D₁ and D₂) contain 0.05-2.06 wt.%, 0.00-0.08 wt.% (D₀), 3.53-17.22 wt.%, 0.49-3.71 wt.% (D₁) and 2.32-3.91 wt.%, 0.43-0.95 wt.% (D₂), respectively. The dolomite (D₁) from layer ore has higher content of these trace elements (FeO, MnO, ZnO and PbO) than dolomite (D₀) from hostrock and dolomite (D₂) from quartz vein. Dolomites correspond to Ferroan dolomite (D₀ and D₂), and ankerite and Ferroan dolomite (D₁), respectively. Therefore, 1) dolomite (D₀) from hostrock is a Ferroan dolomite formed by marine evaporative lagoon environment in Paleoproterozoic Jiao Liao Ji basin. 2) Dolomite (D₁) from layer ore is a ankerite and Ferroan dolomite formed by hydrothermal metasomatism origined metamorphism (greenschist facies) associated with Paleoproterozoic intrusion. 3) Dolomte (D₂) from quartz vein is a Ferroan dolomite formed by hydrothermal fluid origined Mesozoic intrusion.