No abstract available.
Social Workers

Objective To investigate the clinical features and genetic mutations of spinocerebellar ataxia type 17 (SCA17).Methods The pathological CAG triplet repeat expansions of the SCA3,SCA1,SCA2,SCA6,SCA7,SCA8,SCA12,SCA17 and dentatorubral pallidoluysian atrophy genes were analyzed in 708 probands of autosomal dominant familial SCA and 1 19 sporadic SCA cases.The CAG repeats of TATA-binding protein (TBP) gene were amplified by means of polymerase chain reaction and agarose gel electrophoresis.For the samples with two alleles,fragment analysis based on CEQ8000 sequencer was applied to analyze the CAG repeat numbers.Furthermore,the correlation between clinical features and CAG repeat in the TBP gene was studied carefully.Results The expanded CAG repeats in the TBP gene was detected in 5 cases with 37/50,36/45,38/52,38/53,36/54 separately.And the main clinical manifestations were ataxia and memory impairment.Conclusion These findings indicate that SCA17 might be a rare subtype of SCA in the Chinese population and the clinical features of SCA17 cover a wider spectrum than previously reviewed.

We described a case of a 30-year-old female patient with bipolar disorder who experienced the anticonvulsant hypersensitivity syndrome (AHS) during treatment with lamotrigine and aripiprazole. She developed fever (38.4 degrees C), leukopenia, skin rash, and elevated serum transaminase levels on the 11th day of lamotrigine treatment (20th day of aripiprazole). Hypersensitivity to lamotrigine was suspected; lamotrigine was discontinued and prednisolone (30 mg/day) was administered to the patient. The clinical manifestations and laboratory findings showed improvement. However, on the 11th day of lamotrigine discontinuation (7th day of prednisolone treatment), she developed maculopapular skin rash over the entire body except the mucosa. There were no other symptoms and the laboratory findings were within normal limits. Skin biopsy showed erythema multiforme. After prescribing 55 mg/day of predisolone for additional 8 days, the recovery was uneventful, and it took 4 weeks from the onset of the second skin rash. Lamotrigine induced AHS showed broad spectrum of presentation and some manifestations can be flared up several days after discontinuation as did in this case. If unexplained systemic symptoms or a skin rash of unknown cause develop during the use of lamotrigine, clinicians should discontinue lamotrigine promptly and monitor the patient carefully at least for several weeks.
Adult ; Biopsy ; Bipolar Disorder ; Erythema Multiforme ; Exanthema ; Female ; Fever ; Humans ; Hypersensitivity* ; Leukopenia ; Mucous Membrane ; Prednisolone ; Skin ; Aripiprazole

No abstract available.
Chondrogenesis* ; Ear*

We compared the visual outcome after phacoemulsification through the scleral pocket incision between non-diabetic patients and diabetic patients, and studied the factors influencing the visual outcome and postoperative complications in diabetic patients. retrospectively. The subjects operated by one of the authors were composed of 277 non-diabetic patients (277 eyes) and 90 diabetic patients (113 eyes). An average of the best corrected visual acuities at postoperative 8 weeks was lower in diabetic patients than that in non-diabetic patients, but there was no statistically significant difference between diabetic patients who had no or background diabetic retinopathy and non-diabetic patients. In diabetic patients the visual outcome was significantly related with severity of diabetic retinopathy, duration of the diabetes, and insulin dependency, but not related with the rupture of posterior capsule during surgery. Among the complications there were posterior capsule rupture (10.6%), hyphema (7.8%), posterior capsular opacity (4.9%), and posterior synechiae (4.9%).
Diabetic Retinopathy ; Humans ; Hyphema ; Insulin ; Phacoemulsification* ; Postoperative Complications ; Retrospective Studies ; Rupture ; Visual Acuity

Objective Mitochondrial transfer RNA for leucine 1(MTTL1)is one of the most important causative genes of oxidative phosphorylation disorders.To understand the clinical,pathological and molecular genetics features of the disordel's caused by MTTL1 mutation.18 patients with a causative mutation in MTTL1 were analyzed.Methods The clinical features,the findings of tlleir biochemistry tests.the neuroimagings,the pathology of biopsied muscles and hereditary characteristics were retrospectively summarized.Results The mutations mt3243A>G and mt3271A>T within MTTL1 gene led to variant syndrome,encephalomyopathies with lactic acidosis and stroke like episodes,diabetes mellitus,progressive external ophthalmoplegia,leish syndrome and complex mitochondrial syndrome were reported.Usually,most patients were sporadic but maternal transmission was the common inherited model.Conclusion The disorders caused by the MTTL1 mutation are hishly phenotypic vailable.There is no association between phenotype and heteroplasmy in muscle.

To observe the clinical effect of Yisui decoction plus western medicine in treating multiple system atrophy patients, totally 65 patients from China-Japan Friendship hospital during 2008-2012 with complete clinical data and received consecutive traditional Chinese medicine and western medicine treatment for more than 3 months were observed changes of traditional Chinese medicine symptom score, part 1 of unified multiple system atrophy rating scale, orthostatic hypotension before treatment and after 3 months treatment. After 3 months treatment, total effective rate of traditional Chinese medicine symptom was 70.8%. Compared with before treatment, score of part 1 of unified multiple system atrophy rating scale was obviously reduced after 3 month treatment (P < 0.001). Ex- cept swallow function without significant improvement, the remaining projects of unified multiple system atrophy rating scale were im- proved obviously (P < 0.05), of which the most obvious differences were orthostatic symptoms, falls and intestinal function (P < 0.001). Orthostatic hypotension after 1 month treatment and 3 month treatment was obviously better than before treatment (P < 0.001). There was no significant difference in orthostatic hypotension between 1 month treatment and 3 month treatment. The research results show that Yisui decoction plus western medicine has a certain effect on improving clinical symptoms of multiple system atrophy patients, especially has a significant effect on orthostatic hypotension, and can maintain a stable clinical effect in a certain period of time.
Adult ; Aged ; Humans ; Hypotension, Orthostatic ; drug therapy ; Male ; Medicine, Chinese Traditional ; adverse effects ; methods ; Middle Aged ; Multiple System Atrophy ; drug therapy ; Retrospective Studies ; Treatment Outcome

We present a rare case of synchronous ileal inflammatory fibroid polyp and Meckel’s diverticulum detected during laparoscopic surgery for adult intussusception. A 48-year-old woman presented with sudden onset of severe abdominal pain. Abdominal computed tomography revealed a segment of ileocecal intussusception. Thus, laparoscopic exploration was performed, which revealed an ileal mass with an outpouching closed luminal structure in the distal ileum. Two abnormal structures were resected via mini-laparotomy, and the patient was discharged without postoperative complications. Histopathological examination confirmed an ileal inflammatory fibroid polyp and Meckel’s diverticulum with ectopic pancreatic tissue.

Endocrine adrenal tumors are uncommon but clinically significant because they can be managed successfully by surgical therapy. During pregnancy, adrenal tumors can be a cause of death for both mother and baby, unless they diagnoses antenatally and managed properly. To investigate clinical characteristics of endocrine adrenal tumors, we analyzed 26 cases of adrenal tumor diagnosed and managed in Chung Ang Gil Hospital including cases associated with pregnancy and also a rare case of paraganglioma in liver. 1) There were 7 cases of Cushing's syndrome among which two cases were due to Cushing's disease and five cases were due to adrenal adenoma. Six cases were managed successfully by appropriate surgery. Another one case was associated with pregnancy but the patient expired due to sudden development of pulmonary edema and hypotension during preoperative preparation.2) Among 9 cases of primary aldosteronism, 8 cases were aldosterone-producing adenoma(APA) and 1 case was idiopathic hyperaldosteronism(IHA). In differential diagnosis between APA and IHA, diagnostic accuracy of postural study and adrenal CT was 86%, 78% respectively. In each one case of APA and IHA, adrenal venous aldosterone sampling was used for the differential diagnosis. Six cases of APA were managed by appropriate surgery. One patient with APA who refuses surgery and one patient with IHA were placed on spironolactone with good response.3) Among 10 cases of pheochromocytoma, seven cases were from adrenal gland and three cases were paragangliomas including one case originating from liver and two cases from abdominal ganglia. One patient with pheochromocytoma was diagnosed in 1st trimester of pregnancy and she was successfully treated by surgery.We observed 26 cases of endocrine adrenal tumors which were successfully managed except one case. We think that it is important to pay attention to adrenal tumor for early diagnosis particulary when associated with pregnancy. Paraganglioma in liver, although very rare, should be included in the differential diagnosis of space occupying lesion in liver.
Adenoma ; Adrenal Glands ; Aldosterone ; Cause of Death ; Cushing Syndrome ; Diagnosis ; Diagnosis, Differential ; Early Diagnosis ; Ganglia ; Humans ; Hyperaldosteronism ; Hypotension ; Liver ; Mothers ; Paraganglioma ; Pheochromocytoma ; Pregnancy ; Pulmonary Edema ; Spironolactone

Background and Objectives: In South Korea, neck ultrasonography (US) has been used widely at 1- or 2-year intervals to detect recurrence after thyroidectomy. The aim of this study is to assess the prevalence and pattern of recurrence and to establish a proper frequency of follow-up neck US after thyroid lobectomy for papillary thyroid microcarcinoma (PTMC). Materials and Methods: We retrospectively reviewed 262 consecutive patients who had undergone thyroid lobectomy for PTMC from January 2005 to October 2009. They were divided into two groups based on the presence of recurrence (240 patients in group 1 and 22 patients in group 2). The comparison between the two groups involved clinical and pathological characteristics. Results: Recurrences were found in 22 (8.4%) of 262 patients with 132.5 months follow-up (range, 120-180 months). There was a significant difference in the mean number of follow-up neck US after 5 years postoperatively, shortened interval, total number of follow-up neck US (p=0.002, p＜0.001, p＜0.001). All recurrences were found between 2-3 to 11-12 years. Recurrences after 5 years were found in 16 (72.7%) of 22 patients. Conclusion Recurrence after thyroid lobectomy for PTMC occurred with various times during follow up. The minimum frequency of follow-up neck US was not enough for detecting tumor recurrence, especially after 5 years postoperatively. Our results suggest that annual neck US may be appropriate between 3 to 12 years after thyroid lobectomy for PTMC.