It has been clarified that myoepithelial cells contain S-100 protein which is known to be a marker protein of neural tissue. To evaluate the participation of myoepithelial cells in the histogenesis of the salivary gland tumors, normal salivary glands and various salivary gland tumors were stained by immuno-peroxidase method. PAP kits (DAKO Co, USA) for the S-100 protein and the Cytokeratin were used and the following resulting were obtained. Acinic cells of the normal salivery gland were negative for both cytokeratin and S-100 protein. The intercalated duct cells were weakly positive for cytokeratin and S-100 protein. The normal myoepithelial cells scattered around the acini and the intercalated ducts were positive only S-100 protein. In contrast, the striated duct were positive only for cytokeratin. In plemorphic adenoma, the S-100 protein positive cells were found in solid sheets of tumor cells, in chondromyxoid areas and in areas of spindle-cell stroma as well as in the outer layer of the tubular structures. Only the inner lining of the tubules were positive for cytokeratin. In basal cell adenoma, the stromal spindle cells were strongly positive for S-100 protein and the epithelial cells weakly positive. When tubules were present within the epithelial sheets, the inner most lining cells were positive for cytokeratin. The peripheral palisaded tumor cells were negative for both substances. By immunostaining of the adenoid cystic carcinoma, S-100 protein containing cells were found focally scattered independently on the variety of histologies. The lining cells of true cystic structure were positive for cytokeratin. Immunostaining of the mucoepidermoid carcinoma demostrated that the squamous cells and the tubular epithelial cells contained cytokeraitn, whereas only a few intermediate cells were positive for S-100 protein. In Warthin's tumor there were no S-100 protein positive cells, although basally located epithelial cells of the papillae were positive for cytokeratin. These findings suggest that salivary gland tumors other than the Warthin's tumor arise from myoepithelial cells or reserve cells having dual potentiality differentating into myoepithelial and intercalcated duct cells.

It has been proven that the newborn screening programs for congenital hypothyroidism are very important for its early detection and the early treatment of congenital It has been proven that the newborn screening programs for congenital hypothyroidism are very important for its early detection and the early treatment of congenital hypothyroidism can ameliorate and possibly reverse its consequences. Treatment with L-thyroxine is started in case of suspicious hypothyroidism at the first visit. Serum concentration of total and free thyroxine become normal within 1week after start of therapy but TSH values become normal from 2 months to 6 months after L-thyroxine therapy. The possible explanations for prolonged TSH elevation in congenital hypothyroidism are poor compliance for therapy, an inadequate dose of L-thyroxine, elevated threshold for thyrotropin suppression and two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. Authors have experienced two cases of prolonged TSH elevation with normal T3 and T4 levels till 18months and 27 months of age after optimal L-thyroxine therapy and literature were reviewed.
Child ; Compliance ; Congenital Hypothyroidism* ; Humans ; Hypothyroidism ; Infant, Newborn ; Mass Screening ; Thyrotropin ; Thyroxine

Purpose: The purpose of this study was to identify the unmet needs experienced by patients discharged after cancer surgery in order to develop a systematic discharge plan. Methods: In-depth interviews were conducted on 20 patients within one year after major cancer surgery in Korea. Data were collected from August 19 to September 26, 2019, and the interview data were analyzed by Qualitative Content Analysis using the MAXQDA 2018 software to derive categories and subcategories of the study. Results: The needs for discharge planning for cancer patients consisted of four categories (physical needs, informational needs, mental health needs, social needs) and seven subcategories. Conclusion To meet the unmet needs of cancer patients for discharge planning, proper support and services at a hospital, and at a community and national level should be in place. The categories and subcategories formulated through this study can be used as basic data for the development of a standard evaluation form and interventions when planning cancer patient discharge.

Purpose: The purpose of this study was to identify the unmet needs experienced by patients discharged after cancer surgery in order to develop a systematic discharge plan. Methods: In-depth interviews were conducted on 20 patients within one year after major cancer surgery in Korea. Data were collected from August 19 to September 26, 2019, and the interview data were analyzed by Qualitative Content Analysis using the MAXQDA 2018 software to derive categories and subcategories of the study. Results: The needs for discharge planning for cancer patients consisted of four categories (physical needs, informational needs, mental health needs, social needs) and seven subcategories. Conclusion To meet the unmet needs of cancer patients for discharge planning, proper support and services at a hospital, and at a community and national level should be in place. The categories and subcategories formulated through this study can be used as basic data for the development of a standard evaluation form and interventions when planning cancer patient discharge.

Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

No abstract available.
Gastroschisis*

Objective: Precocious puberty is the adrenarche that occurs before the age of 8 in girls. Gonadotropin-releasing hormone stimulation test (GnRH stimulation test), which is widely used in diagnosing precocious puberty, is commonly used to evaluate the activity of the hypothalamus-pituitary-gonad axis, but it has the disadvantages of low sensitivity and laborious blood sampling process. On the other hand, pelvic ultrasonography has the advantage of being inexpensive and easy to test. The purpose of this study was to investigate the usefulness of pelvic ultrasonography for the diagnosis of precocious puberty and whether there is a significant relationship between the GnRH stimulation test and ultrasonography findings. Methods: From January 2016 to September 2021, a total of 234 girls with precocious puberty who visited the Soonchunhyang University Seoul Hospital were subjected to pelvic ultrasonography. Results: The size of both ovaries in the group with a peak luteinizing hormone (LH) value of 10 IU/L or higher in the GnRH stimulation test was significantly larger than that of the group with a peak LH value of less than 7 IU/L. A group with a peak LH value of 10 IU/L or higher in the GnRH stimulation test had 0.63 cm and 0.9 cm significantly larger uterus size than that of the other two groups. Conclusion Uterus and ovary sizes have a positive correlation with peak LH values in the GnRH stimulation test. Pelvic ultrasonography is considered to be a useful test for estimating precocious puberty without causing much discomfort to the child.

Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063*, respectively) and we consider the nonsense mutation as ‘pathogenic variant’. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke’s cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.