Lee, Ji Hyen;Kim, Hae Soon;Kim, Gu-Hwan;Yoo, Han-Wook
Journal of Genetic Medicine
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v.14
no.1
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pp.18-22
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2017
Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.
Kim, Sung Won;Jeong, Yeong Wook;Koh, Yoon Woo;Lee, Kang Dae
International journal of thyroidology
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v.11
no.2
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pp.92-98
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2018
Intraoperative identification and localization of parathyroid glands are crucial step in preventing postoperative hypocalcemia during thyroid and parathyroid surgery. If there is a method to predict the parathyroid's location rather than detecting and verifying with naked eye, it would make the operator easier to find and identify the parathyroid. Recently, near-infrared light imaging technologies have been introduced in the fields of thyroid and parathyroid surgery to predict the localization of the parathyroid. These are being conducted in two ways: autofluorescence imaging with a unique intrinsic fluorophore in the parathyroid tissues and fluorescence imaging with external fluorescence materials specially absorbed into parathyroid tissues. We are suggest that parathyroid glands can be detected by surgeon with NIR autofluorescence imaging even if they are covered by fibrofatty tissues before they are detected by surgeon's naked eye. These novel techniques are very useful to identify and preserve parathyroid glands during thyroidectomy. In this article, we reviewed the latest papers that describe autofluorescence imaging and exogenous ICG fluorescence imaging of parathyroid glands during thyroid and parathyroid surgery.
Milk fever is a metabolic disease with manifestation of clinical signs due to hypocalcemia, which usually occurs within 48-72 h after delivery. However, even after a successful treatment of milk fever, recurrence of milk fever may occur, and studies on recurrent milk fever are still lacking. Accordingly, the present study was conducted for the purpose of identifying the characteristics of recurrent milk fever according to farm, season, parity, and dystocia that can cause physiological changes in the mother during peri- and postpartum periods. The analysis results showed that the incidence rate of initial and recurrent milk fever according to breeding farm was 5.7%-14.1% and 3.1%-7.2%, respectively, demonstrating a positive correlation between the initial and recurrent milk fever (r = 0.613, p < 0.01). With respect to season, the incidence rate of initial and recurrent milk fever during summer was 12.3% and 7.5%, respectively, which were significantly higher than that of other seasons (p < 0.05). In addition, the recurrence rate, the ratio of recurrence relative to initial milk fever, was highest during summer with 62.7%. Regarding parity, the incidence rate of initial and recurrent milk fever in 3rd parity was 11.1% and 5.8%, respectively, which was significantly higher than in 1st and 2nd parity (p < 0.05). Furthermore, the recurrence rate in 4th parity was 64.1%, showing a pattern of increase in incidence rate with increase in parity. Finally, there were no differences in the incidence rate of initial and recurrent milk fever according to eutocia and dystocia. The findings indicated that the incidence rate of initial milk fever should be reduced to effectively prevent the recurrent milk fever, while animals with 3rd parity or higher should be expected to occur high rate of recurrent milk fever, especially during summer, and the necessary preparations should be made for intensive treatment of such individuals.
Objective: This study aimed to evaluate the efficacy and safety of ultrasound (US)-guided minimally invasive treatment in patients with parathyroid lesions. Materials and Methods: This study included 27 patients who had undergone US-guided radiofrequency ablation (RFA) or ethanol ablation (EA) for parathyroid lesions between January 2010 and 2018. RFA was performed in 19 patients with primary hyperparathyroidism (PHPT, n = 11) or secondary hyperparathyroidism (SHPT, n = 8), and EA was performed in eight patients with symptomatic nonfunctioning parathyroid cysts (SNPCs). Nodule size, volume, serum parathyroid hormone (PTH) and calcium levels were recorded before and after treatment. Complications were evaluated during and after treatment. Results: In patients with PHPT, significant reductions in size and volume were noted after RFA at 6- and 12-month follow-up (all, p < 0.05). Seven nodules nearly completely disappeared (residual volume < 0.1 mL); serum PTH and calcium levels were reduced to normal ranges (7/11, 63.6%). Four patients experienced partial reductions of serum PTH and calcium levels (4/11, 36.4%). In patients with SHPT, three experienced therapeutic response of serum PTH (3/8, 37.5%), while five showed persistent hyperparathyroidism (5/8, 62.5%) within 6 months after RFA. In patients with SNPCs, EA resulted in significant reductions in cyst size and volume (all, p < 0.05) at the last follow-up. A total of four complications (two transient hypocalcemia [RFA], one permanent [RFA], and one transient [EA] hoarseness) were observed. Conclusion: Minimally invasive treatments, such as RFA and EA, may serve as therapeutic alternatives for patients with PHPT or SNPCs; they may have limited usefulness in patients with SHPT.
Background : Hepatocellular carcinomoma is the 3rd most common malignancy and the 2nd most common cause of death in Korea. The prediction of life-expectancy in terminal cancer patients is a major problem for patients, families, and physicians. We would like to investigate the prognostic factors of hepatocellular carcinoma, and therefore contribute to the prediction of the survival time of patients with hepatocellular carcinoma. Methods : A total of 91 patients(male 73, female 18) with hepatocellular carcinoma who were admitted to the hospital between January and lune 1995 were entered into the study, and data were collected prospectively on 28 clinical parameters through medical obligation record. We surveyed an obligation and local district office records, and confirmed the surivival of patients till July, 1996. Using Cox-proportional hazard model, give the significant variables related to survival. These determined prognostic factors. Life regressional analysis was used, there were calculated predicted survival day based on combinations of the significant prognostic factors. Results : 1) Out of 91 patients, 73 were male, and 18 were female. The mean age was $56.7{\pm}10.6$ ears. During the study, except for 16 patients who could not follow up, out of 75 patients, the number of deaths was 57(76%) and the number of survivals was 18(24%). 2) Out of the 28 clinical parameters, the prognostic factors related to reduced survival rate were prothrombin time<40%(relative risk:10.8), weight loss(RR:4.4), past history of hypertension (RR:3.2), ascites(RR:2.8), hypocalcemia(RR:2.5)(P<0.001). 3) Out of five factors, the survival day is 1.7 in all of five, $4.2{\sim}10.0$ in four, $10.4{\sim}41.9$ in three, $29.5{\sim}118.1$ in two, $124.0{\sim}296.6$ in one, 724.0 in none. Conclusion : In hepatocellular carcinoma we found that the prognostic factors related to reduce survival rate were prolonged prothrombin time(<40%), weight loss, past history of hypertension, ascites, and hypocalcemia(<8.7mg/dl). The five prognostic factors enabled the prediction of life-expectancy in patients with hepatocellular carcinoma and may assist in managing patients with hepatocellular carcinomal.
Ingestion of grapes or raisins has been reported to the occurrence of acute renal failure (ARF) in dogs, although the mechanism remains undetermined. The prognosis often depends on the severity or clinical course of the disease at the time of presentation and is poor if the dog becomes anuric phase. To explore the characteristics and outcome of ARF caused by grape or raisin poisoning, sequentially collected data, from 2005 to 2008, of the Veterinary Medical Teaching Hospital at the Kangwon National University for clinical evaluation were retrospectively analyzed. Of the 11 clinically affected dogs, 4 cases made a full recovery, 3 died and 4 were euthanized. All but one case (raisin ingestion) had a history of grape exposure, but the exact quantity of fruit ingested was not known. The female dogs accounted for 72.7% (8 cases). Overall, the mean age was 5.3 years (range 0.2-11.3 years), and the mean body weight was 4.1 kg (range 1.4-13 kg). The average duration of hospital stay was 7.1 days (range 2-22 days). Vomiting and anorexia was reported in all dogs. Diarrhea (4 cases), oliguria (5 cases), and anuria (4 cases) with or without isosthenuria were also reported. Five dogs of 11 had mild to moderate anemia, with a decrease in packed cell volume and hemoglobin. All dogs had elevations in serum phosphorous, creatinine, and blood urea nitrogen values, but calcium values were variable; 2 dogs with hypocalcemia, 2 dogs with hypercalcemia, and the remaining 7 cases within reference interval. Dogs (n = 8) with measured on blood gas parameters had metabolic acidosis. In addition, higher serum enzyme activities were observed; amylase in 8 (72.7%) dogs, alkaline phosphatase in 7 (63.6%) dogs, and alanine aminotransferase in 5 (45.5%) dogs. Non-survived dogs revealed lower counts of platelet and lymphocyte subpopulation, as compared to the survived dogs.
Background and Objectives : Parathyroid adenoma is a rare disease in Korea, but the incidence of parathyroid adenoma has gradually increased due to generalized measurement of serum calcium and imaging study according to wide spread public health screening program. In previous researches, the analysis of clinical aspects were insufficient due to a few cases. The purpose of this study was to assess the clinical analysis of surgically treated parathyroid adenoma with hyperparathyroidism. Methods : We reviewed the medical records of nineteen cases of parathyroid adenoma with hyperparathyroidism. Initial symptom to visit hospital, hypercalcemia associated medical symptom, surgical outcome and complication were investigated. Serum total calcium, parathyroid hormone, phosphate, alkaline phosphatase were checked before and after surgery. Imaging study was performed with combination of radionuclide parathyroid scan, ultrasonography and neck CT scan. Results : The initial symptoms were no symptom(6/19), pelvic pain(5/19), muscular weakness (3/19), bone pain(3/19) and palpable neck mass(2/19) in order of frequency. Serum total calcium, parathyroid hormone decreased and phosphate increased after surgery than before surgery statistically significantly. Sensitivities of parathyroid scan, neck ultrasonography and neck CT as preoperative localization test were 88.2%, 72.7%, 73.3% each. The most common postoperative complication was transient hypocalcemia(9/19). Conclusion : Similar to previous study, parathyroid adenomas have numerous clinical features and surgical treatment via unilateral approach with preoperatively localized single parathyroid adenoma was successful. In our study, parathyroid adenoma was predominantly detected by elevated serum calcium level with no clinical symptom so we need to evaluate parathyroid adenoma, if serum calcium elevated.
Thyroid cancer, the most common cancer of endocrine neoplasms, has tremendous variation in tumor biologic behavior. There is no consensus about treatment mode to prevent recurrences despite of recent advance in understanding characteristics of thyroid cancer. So, we have made a clinical analysis and follow-up study of recurred 27 cases among 189 cases treated under the diagnosis of thyroid carcinoma in the department of surgery, Chonnam University Hospital from February, 1982 to February, 1992 to clarify our experience about the characteristics of recurred thyroid cancer. The results were as follow: According to the pathological classification of recurred thyroid cancer, recurrence rate was 11.6% in papillary carcinoma, 15.6% in follicular carcinoma, 37.5% in medullary carcinoma, 66.7% in undifferentiated carcinoma, respectively, and the mean recurrence rate of thyroid cancer was 14.3%. The recurrence rate according to age was 28.6% in 8th decade and 17.9% in 4th decade. The recurrence rate according to sex was not singificant(15.6% in male: 14% in female). The mean period to relapse was 4 years 6 months in papillary carcinoma, 2 years 5 months in follicular carcinoma, 2 years 1 months in medullary carcinoma, 2 years 6 months in undifferentiated carcinoma. The recurrence rate according to previous operating methods, such as performing lymph node dissection or not, mode of thyridectomy, type of lymph node dissection was statisfically non-specific. Common recurrent sites of papillary and follicular carcinoma was cervical lymph node and remained thyroid tissue. Medullary and undifferentiated carcinoma was noted in multiregional or systemic involvement Reoperation was performed with complete resection of recurred or metastatic mass, such as radical neck dissection or mass extirpation from involved organs as possible. The postoperative complications were 2 cases of horseness, and 1 case with hematoma, transient hypocalcemia, wound infection, and pulmonary insufficency, respectively. 5-year survival rate was 85.5% in papillary carcinoma, 66.7% in follicular carcinoma. 50% in medullary carcinoma, and 50% in undifferentiated carcinoma. We concluded that recurrence in thyroid cancer give a reconsideration to previous conservative therapy and more extensive surgical procedures for thyroid cancer including lymphatic dissection are recommanded to prevent recurrences in selected cases if possible.
Kim, Min Jin;Song, Ji-Soo;Shin, Teo Jeon;Kim, Young-Jae;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Hyun, Hong-Keun
The Journal of Korea Assosiation for Disability and Oral Health
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v.14
no.1
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pp.36-40
/
2018
CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.
A 7-year-old, 3.16 kg intact male Yorkshire terrier had the history of abdominal distension, diarrhea, and weight loss. On the basis of history takings, physical examination, laboratory tests, radiography, ultrasonography, exploratory laparotomy, and histopathological examination, the dog was diagnosed definitely as intestinal lymphangiectasia. In this case, signs and results are consistent with those of other reports, but some clinicopathological findings such as hypocalcemia and hypocholesterolemia are not. This means that the findings were not completely in accord with the typical ones of intestinal lymphangiectasia in this dog. Prednisolone was prescribed to treat. However, it was not effective sufficiently. Thus, azathioprine was added to the regimen used in the first trial, and it was quite efficient in inducing remission in intestinal lymphangiectasia. The clinical signs were improved to the combined therapy. This case report demonstrates that the combined therapy for intestinal lymphangiectasia can be used as an alternative to only glucocorticoid therapy.
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