No abstract available.
Carcinoma, Renal Cell* ; Genes, Tumor Suppressor*

PURPOSE: Complete release of the transverse carpal ligament(TCL) is accepted as the standard treatment for carpal tunnel syndrome(CTS). However, loss of grip and pinch power are reported in some patients after complete release of the TCL. This study was designed to evaluate the effectiveness of complete versus partial carpal tunnel release by using the inching technique. METHODS: Nineteen patients(a total of 27 hands) who each had a confirmed diagnosis of CTS were selected from September 2002 to February 2003. The cases were divided into three groups(mild, moderate and severe) based on preoperative electrodiagnostic studies. The patients with partial carpal tunnel syndrome were classified into the mild or moderate groups, while patients with complete carpal tunnel syndrome were classified into the moderate or severe groups. Patient oriented data (functional and symptomatic) were collected and electrophysiologic studies were undertaken preoperatively and postoperatively(on the 2nd week, 1st month, 3rd month and 6th month after surgery). RESULTS: In this study, the mild and moderate groups showed both good functional and symptomatic results and improvements in electrophysiologic studies. CONCLUSION: Carpal tunnel syndrome patients classified into mild or moderate groups based on nerve conduction studies, and whose precise compression sites were pinpointed using the inching technique, can be treated by partial carpal tunnel release.
Carpal Tunnel Syndrome* ; Diagnosis ; Follow-Up Studies* ; Hand Strength ; Humans ; Ligaments* ; Neural Conduction

BACKGROUND: Left ventricular hypertrophy(LVH) is a powerful indepedent risk factor of ventricular tachycardia and sudden death. Even though it is not clear the mechanism of sudden death in patients with LVH, inhomogenous ventricular repolarization is highly suggested. QT dispersion which reflecting regional inhomogeneity of repolarization is defined as interlead variation in QT intervals of 12 leads ECG. The purpose of this study was to assess whether QT dispersion is associated with LVH in hypertensive patients. METHODS: We assessed 23 untreated hypertensives with echocardiographic LVH and normal left ventricular systolic function. The criteria of 5th Joint National Committee stage I-III was used to define hypertension. Thirty four normotensives was assessed as controls. On a standard 12 lead ECG, the intervals between onset of QRS to end of T wave were measured(QT intervals) and corrected by heart rate(QTc). QT dispersion was calculated by the difference of maximal and minimal QTc. Left ventricular mass(LVM) was calculated from Devereux's formula using the parameters measured by the recommendation of American Society of Echocardiography. LVH was defined by LVM indices over 130 g/m2. RESULTS: LVM indices of hypertensive group were significantly greater than those of controls (162.2+/-39.3 g/m2 vs 84.2+/-16.1 g/m2, p<0.001). Maximal QT and QTc of hypertensive group were significantly prolonged than those of controls(maximal QT=401+/-31 ms vs 380+/-35 ms, p<0.05 ; maximal QTc=432+/-19 ms vs 414+/-17 ms, p<0.001). QT dispersions were significantly greater in hypertensive group than in controls(60.2+/-15.7 ms vs 33.2+/-11.7 ms, p<0.001). In hypertensive group, there was significant association between LVM index and QT dispersion(r=0.492, p=0.017). CONCLUSIONS: Hypertensives with LVH have a prolonged QT and QTc and increased QT dispersion in comparision with controls. QT dispersion in these patients correlates with degree of LVH.
Death, Sudden ; Echocardiography ; Electrocardiography ; Heart ; Humans ; Hypertension ; Hypertrophy, Left Ventricular* ; Joints ; Risk Factors ; Tachycardia, Ventricular

Rhino-orbital-cerebral (ROC) mucormycosis is an uncommon, acute and aggressive fungal infection. It remains a challenging problem to clinicians despite aggressive debridement surgery and antifungal therapy. The authors describe a case of ROC mucormycosis with pericranial abscess occurring in a female patient with uncontrolled diabetes mellitus. The infection initially developed in the right-sided nasal sinus and later progressed through the paranasal sinuses with the invasion of the peri-orbital and frontotemporal region, due to the delayed diagnosis and treatment. Numerous non-septate hyphae of the zygomycetes were identified by a punch biopsy from the nasal cavity and by an open biopsy of the involved dura. The patient was treated successfully with extensive debridement of her necrotic skull and surrounding tissues, drainage of her pericranial abscess and antifungal therapy, including intravenous amphotericin B for 61 days and oral posaconazole for the following 26 days. She returned to a normal life and has had no recurrence since the end of her treatment 15 months ago.
Abscess ; Amphotericin B ; Biopsy ; Debridement ; Delayed Diagnosis ; Diabetes Mellitus ; Drainage ; Female ; Humans ; Hyphae ; Mucormycosis ; Nasal Cavity ; Neurosurgery ; Paranasal Sinuses ; Recurrence ; Skull ; Triazoles

PURPOSE: The goals of a blow-out fracture reconstruction are to restore the osseous continuity, provide support for the orbital contents and prevent functional and anatomic defects. Over the past several years, a range of autogenous and synthetic implants have been used extensively in orbital reconstructions. None of these implants have any absolute indications or contraindications in certain clinical settings. However, in extensive blow-out fractures, it is difficult to restore support of the orbital contents, which can cause more complications, such as enophthalmos. This study examined the clinical outcomes of extensive or comminuted blow-out fractures that were reconstructed by the simultaneous use of a titanium mesh plate and Medpor(R). METHODS: Eighty six patients with extensive orbital fractures, who were admitted between March 1999 and February 2007, were reviewed retrospectively. The patients' chart and CT were inspected for review. Twenty three patients were operated on with both a titanium mesh plate (Matrix MIDFACE pre-formed orbital plate, Synthes, USA) and Medpor(R) (Porex, GA, USA). The patients underwent pre-operative CT scans to evaluate the fracture site and measure the area of the fracture. A transconjunctival approach was used, and titanium mesh plates were inserted subperiosteally with screw fixation. Medpor(R) was inserted above the titanium mesh plate. The patients were evaluated post-operatively for enophthalmos, diplopia, sensory disturbances and eyeball movement for a period of at least 6 months. RESULTS: No implant-related complications were encountered during the follow-up period. Enophthalmos occurred in 1 patient, 1 patient had permanent sensory disturbance, and 3 patients complained of ocular pain and fatigue, which recovered without treatment. Although there were no significance differences between groups, the use of 2 implants had fewer complications. Therefore, it can be an alternative method for treating blow out fractures. CONCLUSION: The use of both a titanium mesh plate and Medpor(R) simultaneously may be a safe and acceptable technique in the reconstruction of extensive blow-out fractures.
Diplopia ; Enophthalmos ; Fatigue ; Follow-Up Studies ; Humans ; Orbit ; Orbital Fractures ; Polyethylene ; Retrospective Studies ; Titanium

No abstract available.
Korea ; Prekallikrein

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk. Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of CYP21A2 and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively. Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9α-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the salt-wasting type of 21-OHD. Conclusion This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9α-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis.

OBJECTIVES: The purpose of this study was to evaluate the characteristics of psychopathology, adverse drug effects, and subjective response to drugs that have a significant impact on the subjective quality of life in schizophrenic patients receiving atypical antipsychotics. METHODS: One hundred and one schizophrenic patients, who were receiving maintenance treatment with atypical antipsychotics, were evaluated. Subjective quality of life was assessed using the standardized Korean modification of a self-rating scale to measure subjective well-being under neuroleptics (KmSWN). Patients' psychopathology was evaluated using the Positive and Negative Syndrome Scale. Adverse effects and subjective response to drug were evaluated using the Liverpool University Neuroleptic Side Effect Rating Scale and the Drug Attitude Inventory-10, respectively. Correlation analysis and stepwise multiple regression analysis were conducted. RESULTS: In psychopathology, the severity of depression and anxiety showed the most significant correlation with the score of KmSWN. In adverse drug effects, the severity of psychic side effect and extrapyramidal side effect showed the most significant correlation with the score of KmSWN. Regarding subjective response to drug, significant correlation was observed between the severity of subjective negative response and the score of KmSWN. Stepwise multiple regression analysis revealed that psychic side effect, extrapyramidal side effect, and depression contributed significantly to the total score of KmSWN. These variables accounted for 59.7% of the total variance. CONCLUSION: The results of the present study suggest that psychic side effect, extrapyramidal side effect and depressive symptom are the clinical characteristics that are significantly associated with the subjective quality of life. An effective management strategy for these variables should be established in developing a treatment program to enhance the quality of life of patients with schizophrenia.
Antipsychotic Agents* ; Anxiety ; Depression ; Humans ; Psychopathology* ; Quality of Life* ; Schizophrenia

Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.
Child* ; Diagnosis ; Enzyme Assays ; Genetic Heterogeneity ; Genetic Testing ; Glycogen Storage Disease ; Glycogen* ; Growth and Development ; Hepatomegaly* ; Humans ; Hypoglycemia ; Infant ; Male ; Phosphorylase Kinase

PURPOSE: Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was performed to investigate the frequency, clinical features, and outcomes of endocrine dysfunctions in children with WBS. METHODS: One hundred two patients were included. The diagnosis was confirmed by chromosome analysis and fluorescent in situ hybridization. Medical charts were reviewed retrospectively to analyze endocrine dysfunctions such as short stature, precocious puberty, thyroid dysfunctions, and hypocalcemia. RESULTS: The age at diagnosis was 3.7±4.4 years (one month to 19 years). Height- and weight-standard deviation score (SDS) were -1.1±1.1 and -1.4±1.4 at presentation, respectively. Short stature was found in 26 patients (28.3%) among those older than 2 years. Body mass index-SDS increased as the patients grew older (P<0.001). Two males and one female (2.9%) were diagnosed with central precocious puberty. Nine patients (8.8%) were diagnosed with primary hypothyroidism at age 4.0±4.3 years (one month to 12.1 years); their serum thyroid stimulating hormone and free T4 levels were 15.2±5.4 µU/mL and 1.2±0.2 ng/dL, respectively. Hypercalcemia was observed in 12 out of 55 patients under age 3 (22%) at the age of 14.3±6.6 months (7 to 28 months) with a mean serum calcium level of 13.1±2.1 mg/dL. CONCLUSION: Endocrine dysfunctions are not uncommon causes of morbidity in patients with WBS. The severity and outcomes of their endocrine manifestations were heterogeneous. Long-term follow-up is needed to predict the prognosis of endocrine features.
Aortic Stenosis, Supravalvular ; Calcium ; Child* ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Hypercalcemia ; Hypocalcemia ; Hypothyroidism ; In Situ Hybridization, Fluorescence ; Male ; Prognosis ; Puberty, Precocious ; Retrospective Studies ; Thyroid Gland ; Thyrotropin ; Williams Syndrome*