• Journal of Interdisciplinary Genomics
• /
• v.5 no.2
• /
• pp.29-31
• /
• 2023

Pseudohypoparathyroidism (PHP) is very rare and shows heterogeneity with impaired genetic components. PHP is characterized by parathyroid hormone resistance to target organ, related with a GNAS (guanine nucleotide-binding protein α-subunit) mutation and epimutation. PHP receptor is coupled with the stimulatory G protein which activates cyclic adenosine monophosphate formation. PHP type 1A is caused by inactivating mutations on the maternal allele of the GNAS whereas paternal allele mutations cause pseudopseudohypoparathyroidism. PHP type 1B is caused by abnormal patterns of methylation in differentially methylated region which can be divided into partial or complete. This disease has some difficulties to diagnose according to these different molecular alterations caused by complex genetic and epigenetic defects. According to this different molecular alterations, genetic confirmation must be done to discriminate their etiology.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.9 no.1
• /
• pp.25-42
• /
• 1996

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.9 no.1
• /
• pp.43-65
• /
• 1996

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.9 no.1
• /
• pp.99-113
• /
• 1996

• Genomics & Informatics
• /
• v.2 no.1
• /
• pp.1-6
• /
• 2004

• Journal of the korean academy of Pediatric Dentistry
• /
• v.44 no.1
• /
• pp.47-55
• /
• 2017

This study evaluated critical factors influencing the success of regenerative endodontic treatment for necrotic immature permanent teeth. The study enrolled patients who had regenerative endodontic treatment in a necrotic immature permanent tooth through 1-year follow-up. Possible explanatory variables related to the success rates for 46 teeth were age, gender, dental stage at the initial appointment, etiology, treatment information, and clinical and radiographic outcomes. The dental stage at the time of regenerative endodontic treatment did not influence the success rate. The success rate was significantly related to the etiology of the necrotic immature tooth. The success rate according to etiology decreased in the following order: dens evaginatus, caries, and trauma. There was also a significant difference according to the type of antimicrobial. The success rate was influenced by appropriate disinfection of the root canal system, provision of a scaffold, and coronal sealing. Above all, careful case selection is necessary for treating a necrotic immature permanent tooth, especially in cases of trauma.

• Tuberculosis and Respiratory Diseases
• /
• v.65 no.1
• /
• pp.34-36
• /
• 2008

Pregnancy induces many physiologic changes, and it can cause hemoptysis in relation to the underlying or potential pulmonary diseases. Although hemoptysis is not a frequent event during pregnancy, a thorough search for its etiology and then immediate management should be initiated for a case of massive hemoptysis to avoid serious adverse effects on both the fetus and the mother. Most hemoptysis events during pregnancy are related to well known etiologies, but there are a few reported cases of hemoptysis in pregnant women who are without any underlying lung lesion. We report here on a case of a pregnant woman with total lung collapse due to hemoptysis, and a thorough search for the etiology after delivery could not reveal any etiology.

• Clinical and Experimental Pediatrics
• /
• v.60 no.3
• /
• pp.77-85
• /
• 2017

Purpose: Fever is one of the most common symptoms in children. In previous studies, infectious disease was the most common cause of pediatric fever of unknown origin (FUO). The aim of this study is to investigate the etiology, clinical characteristics and prognosis of pediatric FUO in 21 century with more diagnostics available and to analyze the factors for certain disease categories. Methods: Among the children under 18 years old who were hospitalized at Samsung Medical Center from January 2000 to December 2014, the patients who met the criteria including fever of ${\geq}38.0^{\circ}C$ for longer than ${\geq}14days$ and failure to reach a diagnosis after one week of investigations were included. Results: Total 100 patients were identified. Confirmed diagnosis was achieved in 57 patients (57%). Among them, infectious diseases (n=19, 19%) were most common, followed by connective tissue diseases (n=15, 15%), necrotizing lymphadenitis (n=8, 8%), and malignancies (n=7, 7%). Children with fever duration over 28 days had a trend for higher frequency of connective tissue diseases (28.3%) except undiagnosed etiology. The symptoms such as arthritis, lymph node enlargement and only fever without other symptoms were significantly related with connective tissue diseases, necrotizing lymphadenitis and undiagnosed respectively (P<0.001). Ninety-two patients have become afebrile at discharge and 1 patient died (1%). Conclusion: Almost half of our patients were left without diagnosis. Although it has been known that infectious disease was most common cause of pediatric FUO in the past, undiagnosed portion of FUO have now increased due to development of diagnostic techniques for infectious diseases.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.21 no.4
• /
• pp.297-305
• /
• 2018

Purpose: There is a lack of scholarly reports on pediatric emergency department (PED) exposure to hyperbilirubinemia. We aimed to describe the epidemiology of hyperbilirubinemia in patients presenting to a PED over a three-year period. Methods: This was a retrospective cohort study, completed at an urban quaternary academic PED. Patients were included if they presented to the PED from 2010 to 2012, were 0 to 18 years in age, and had an elevated serum bilirubin for age. A chart review was completed to determine the incidence of hyperbilirubinemia, etiology, diagnostic work up and prognosis. The data set was stratified into four age ranges. Results: We identified 1,534 visits where a patient was found to have hyperbilirubinemia (0.8% of all visits). In 47.7% of patients hyperbilirubinemia was determined to have arisen from an identifiable pathologic etiology (0.38% of all visits). First-time diagnosis of pathologic hyperbilirubinemia occurred in 14% of hyperbilirubinemia visits (0.11% of all visits). There were varying etiologies of hyperbilirubinemia across age groups but a male predominance in all (55.0%). 15 patients went on to have a liver transplant and 20 patients died. First-time pathologic hyperbilirubinemia patients had a mortality rate of 0.95% for their initial hospitalization. Conclusion: Hyperbilirubinemia was not a common presentation to the PED and a minority of cases were pathologic in etiology. The etiologies of hyperbilirubinemia varied across each of our study age groups. A new discovery of pathologic hyperbilirubinemia and progression to liver transplant or death during the initial presentation was extremely rare.

• Clinical and Experimental Reproductive Medicine
• /
• v.18 no.1
• /
• pp.113-120
• /
• 1991

Etiologic classification was performed in 155 patients with recurrent spontaneous abortion history. The incidence was 9.3% among 1658 pregnant women at Hanyang university hospital during the same period. In etiologic classification, 37 cases of on-going patients for diagnostic evaluation were excluded. Of the remained 118 patients, the patients with unknown etiology were 32 cases (27.1%), and 86 cases were classified into each etiologies using appropriate diagnostic modalities. Anatomic causes were the largest etiology, which revealed 46.6% (55 among 118 patients). The next etiology was immunologic cause, which revealed 24.6% (29 patients). Of the 86 patients who have at least one cause, 40.7% (35 among 86) have two or more etiologies. Furthermore, six cases (7%) have 3 combined etiologies. The uterine synechia and/or incompetent internal os of the cervix, namaly anatomic causes, revealed highest combination ratio than other etilogies. The popular abortion technique in Korea, D&C, seems to be main factors for these anatmic causes. The combined causes rather than single cause of recurrent spontaneous abortion were unique situation in Korea especially with anatomic etiologies. From this point of view, we think anatomic etiologies should be rule out first in the evaluation of the patients. For this purpose, we believe hysteroscopy would be helpful as a diagnostic work-up and treatment modality in the management of recurrent spontaneous abortion patients in Korea.