BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. METHODS: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. RESULTS: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. CONCLUSION: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
Aged ; Exome ; Female* ; Humans ; Korea ; Leukocytes ; Mutation, Missense ; Osteoclasts ; Osteopetrosis* ; Osteosclerosis ; Pelvis ; Skeleton ; Skull ; Spine

BACKGROUND: Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined. METHODS: A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records. RESULTS: Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome. CONCLUSION: Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome.
Blood Cell Count ; Blood Glucose* ; Cardiovascular Diseases ; Chungcheongnam-do ; Cushing Syndrome* ; Eosinophils* ; Glucose ; Glucose Intolerance ; Hemoglobin A, Glycosylated ; Humans ; Hydrocortisone ; Leukocytes ; Medical Records ; Pituitary ACTH Hypersecretion ; Retrospective Studies

BACKGROUND: Although both thyroid histology and serum concentrations of hormones are known to change with age, only a few reports exist on the relationship between the age-related structural and functional changes of the thyroid follicles in both mice and humans. Our objectives were to investigate age-related histological changes of the thyroid follicles and to determine whether these morphological changes were associated with the functional activity of the follicles. METHODS: The thyroid glands of mice at 18 weeks and at 6, 15, and 30 months of age were histologically examined, and the serum levels of thyroid hormones were measured in 11-week-old and 20-month-old mice. Samples of human thyroid tissue from 10 women over 70 years old and 10 women between 30 and 50 years of age were analyzed in conjunction with serum thyroid hormone level. RESULTS: The histological and functional changes observed in the thyroid follicles of aged mice and women were as follows: variable sizing and enlargement of the follicles; increased irregularity of follicles; Sanderson’s polsters in the wall of large follicles; a large thyroglobulin (Tg) globule or numerous small fragmented Tg globules in follicular lumens; oncocytic change in follicular cells; and markedly dilated follicles empty of colloid. Serum T3 levels in 20-month-old mice and humans were unremarkable. CONCLUSIONS: Thyroid follicles of aged mice and women show characteristic morphological changes, such as cystic atrophy, empty colloid, and Tg globules.
Aged ; Animals ; Atrophy ; Colloids ; Female ; Humans* ; Infant ; Mice ; Thyroglobulin ; Thyroid Gland* ; Thyroid Hormones

We investigated an association between serum Growth Differentiation Factor 15 (GDF15) level and cardiovascular risk in patients with newly diagnosed type 2 diabetes mellitus (T2D). A total of 107 participants were screened for T2D and divided into a T2D group and a control group (without diabetes). We used the Framingham risk score (FRS) and the New Pooled Cohort Equation score to estimate the 10-year risk of atherosclerotic cardiovascular disease. Serum GDF15 levels were measured using an enzyme-linked immunosorbent assay. Correlation analyses were performed to evaluate the associations between GDF15 level and cardiovascular risk scores. The mean serum GDF15 level was elevated in the T2D group compared to the control group (P < 0.001). A positive correlation was evident between serum GDF15 level and age (r = 0.418, P = 0.001), the FRS (r = 0.457, P < 0.001), and the Pooled Cohort Equation score (r = 0.539, P < 0.001). After adjusting for age, LDL-C level, and body mass index (BMI), the serum GDF15 level was positively correlated with the FRS and the New Pooled Cohort Equation score. The serum GDF15 level is independently associated with cardiovascular risk scores of newly diagnosed T2D patients. This suggests that the level of GDF15 may be a useful predictive biomarker of cardiovascular risk in newly diagnosed T2D patients.
Body Mass Index ; Cardiovascular Diseases ; Cohort Studies ; Diabetes Mellitus, Type 2* ; Enzyme-Linked Immunosorbent Assay ; Growth Differentiation Factor 15* ; Humans

Malnutrition associated vitamin D deficiency contributes to the calcium loss from bone and results in osteoporosis and osteomalacia at final stage. Osteomalacia is characterized with softening of bone secondary to defective bone mineralization. Here, we report a case of possible osteomalacia caused by prolonged lactation and severe malnutrition in 35-year-old female. She was a housewife and her body mass index was 11.8 kg/m2. She was diagnosed with severe osteoporosis in regular health check-up 2 years ago, but did not take any medication. Nine months ago, she had been treated with anti-tuberculosis medications for 6 month due to active pulmonary tuberculosis. After complete remission of pulmonary tuberculosis, she had lost her appetite severely. Furthermore, she felt gait difficulty and suffered from generalized bone pain. On serologic examination, hypocalcemia, hypophosphatemia, high alkaline phosphatase, low vitamin D3 and high parathyroid hormone level were seen. In the bone mineral density, Z-score from her lumbar spine was -6.5. She was treated with oral calcium and vitamin D3 intramuscularly. After 1 year treatment, she felt significant improvement in bone pain and could walk alone. Also her serum calcium, phosphate and vitamin D3 level are all normalized.
Adult ; Alkaline Phosphatase ; Appetite ; Body Mass Index ; Bone Density* ; Calcification, Physiologic ; Calcium ; Cholecalciferol ; Female ; Gait ; Humans ; Hypocalcemia ; Hypophosphatemia ; Lactation* ; Malnutrition* ; Osteomalacia ; Osteoporosis ; Parathyroid Hormone ; Spine ; Tuberculosis, Pulmonary ; Vitamin D ; Vitamin D Deficiency*

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D3 concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.
Bony Callus ; Calcitriol ; Endopeptidases ; Exons ; Female ; Femur ; Gait ; Humans ; Middle Aged ; Muscle Weakness ; Rickets ; Rickets, Hypophosphatemic* ; Thigh

BACKGROUND/AIMS: When a patient is diagnosed with diabetes mellitus, it is important to help both the patient and their family members gain knowledge and confidence with regard to self-management. A diabetes camp is an excellent way to recognize the benefits of education. This study was conducted to evaluate the effects of diabetes camp on patients with type 2 diabetes. METHODS: This study comprised 30 patients with diabetes who had participated in a diabetes camp from August 2005 through August 2011. The effectiveness of the diabetes camp was examined retrospectively via clinical parameters, compliance behavior, and a self-esteem questionnaire. RESULTS: Glycated hemoglobin (HbA1c; p = 0.004) was significantly decreased, while measures of self-esteem (p = 0.000) and compliance (p = 0.001) were significantly increased after attending the camp. No significant differences were observed in other clinical parameters, such as weight, body mass index (BMI), and lipid profiles, before and after camp attendance. CONCLUSIONS: Diabetes camp may be an effective way to control diabetes mellitus.
Body Weight ; Camping ; Compliance ; Diabetes Mellitus ; Hemoglobins ; Humans ; Retrospective Studies ; Self Care

Non-islet cell tumor induced hypoglycemia (NICTH) is attributable to overproduction of insulin-like growth factor-II (IGF-II) by solid tumors, and these tumors usually originate from mesenchymal or epithelial cells. Gastrointestinal stromal tumor (GIST) is a rare mesenchymal tumor and most commonly find in the gastrointestinal tract. It is usually expresses the CD117 (stem cell factor receptor, c-kit) detected by immunohistochemistry. Hypoglycemia associated with GIST is very rare and this has not yet been reported in Korea. A 72-year-old man was hospitalized due to frequent episodes of confusion. It was observed that non-hyperinsulinemic hypoglycemia, an elevated serum IGF-II level and a huge liver mass. The histology of liver mass showed c-kit (CD117) positivity, which was consistent with GIST, but it was surgically unresectable. He was treated with imatinib mesylate. Although he recieved palliative treatment, he still experienced intermittent fasting hypoglycemia. After 2 months, the serum IGF-II level was even higher than before. We changed imatinib mesylate to sunitinib malate and performed radiotherapy on the liver mass. Although the change of the liver mass was not significant, he did not suffer from hypoglycemia for three months afterwards.
Aged ; Benzamides ; Epithelial Cells ; Gastrointestinal Stromal Tumors ; Gastrointestinal Tract ; Humans ; Hypoglycemia ; Immunohistochemistry ; Indoles ; Insulin-Like Growth Factor II ; Korea ; Liver ; Mesylates ; Palliative Care ; Piperazines ; Pyrimidines ; Pyrroles ; Imatinib Mesylate

No abstract available.
HIV* ; Humans ; Lymphocytes*

No abstract available.
Posterior Cruciate Ligament*