No abstract available.
Recurrence*

No abstract available.
Recurrence*

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected by glycogen storage disease (GSD) type Ia with gout as the first manifestation. METHODS: Clinical and biochemical data of the pedigree were collected. Available members of the pedigree were subjected to gene sequencing, and the result was analyzed by bioinformatics software. The pedigree was followed up for five years. RESULTS: The proband was a young female manifesting recurrent gout flare, hypoglycemia, and hypertriglyceridemia. One of her younger brothers also presented with dysplasia and hepatic adenoma. Gene sequencing revealed that the proband and her younger brother both harbored c.1022T>A (p.I1e341Asn) and c.230+5G>A compound heterozygous variants of the G6PC gene , which were inherited from their father and mother, respectively. Among these, the c.230+5G>A is an intron region variant which was unreported previously, and bioinformatics analysis showed that it may impact mRNA splicing of the gene. The proband was treated with raw corn starch, allopurinol, and fenofibrate. Gout was well controlled, and she had given birth to a baby girl without GSD. CONCLUSION GSD Ia should be considered among young gout patients with hypoglycemia and hepatomegaly, for which gene sequencing is warranted. GSD Ia has a good prognosis after comprehensive treatment with diet and medicine.
China ; Female ; Glycogen Storage Disease Type I ; Gout/genetics* ; Humans ; Hypoglycemia ; Male ; Pedigree ; Symptom Flare Up

OBJECTIVE: To evaluate frequency and patterns, risk factors of MSU (monosodium urate) crystal deposition at lower extremity tendon by ultrasonography in gout patients, and to explore diagnostic value by ultrasonography. METHODS: Patients diagnosed with gout and age matched healthy controls had ultrasound scanning of both feet and knees including joints and tendons (achilles, quadriceps, and patellar tendon). Readers who scored the ultrasound scans for MSU crystal deposition were blinded to the patients' clinical diagnoses. Clinical characteristics were compared between positive and negative crystal deposition groups by US, and risk factors of MSU deposition in tendons were analyzed. Diagnostic values of MSU deposition were evaluated by ultrasonography according with positive MSU crystal in synovial fluid or tophi by polarized microscopy. RESULTS: Eighty patients and eighty healthy controls were included. Thity-three patients (47.5%) had tophi by physical examination. The achilles tendon was the most commonly involved tendon site 41(51.2%), followed by the quadriceps tendons 22(27.5%), and patella tendon 10(12.5%). There were no MSU deposition in healthy control group at tendon by ultrasonography. Compared with negative MSU deposition at tendon site by ultrasonography, tendon MSU positive patients had longer mean gout duration [(87.3±40.9) months vs. (7.7±2.6) months, P=0.001];higher frequency of gout flare [2(1, 2) /year vs. 1(1, 1) /year, P=0.001]; higher BMI [(26.3±2.5) kg/m²vs. (23.3±2.1) kg/m², P=0.05]. Also, the mean serum uric acid and creatinine levels were higher in tendon MSU positive group [(584.6±87.6) μmol/L vs. (460.4±96.7) μmol/L, P=0.001] and [(90.9±33.3) μmol/L vs. (70.6±40.2) μmol/L, P=0.02] separately. Logistic regression analysis showed gout duration and flare frequency were independent risk factors for MSU deposition at tendon by ultrasonography (P < 0.01). Joint or tophi aspirations were performed in all the eighty gout patients, and positive MSU crystals in synovial fluid analysis by polarized microscopy were defined as the golden standard of gout diagnosis. When compared with the golden standard, the sensitivity and specificity were 94.0% and 78.0% separately for MSU deposition at tendon by ultrasonography. CONCLUSION Tendon involvement at the lower extremity tendons in gout is very common. Long gout disease duration and high frequency of gout flare are both independent risk factors of tendon MSU deposition by ultrasonography. Ultrasonography had good sensitivity and specificity for detecting tendinous tophi and aggregates.
Gout/diagnostic imaging* ; Humans ; Risk Factors ; Symptom Flare Up ; Ultrasonography ; Uric Acid

No abstract available.
Keloid* ; Recurrence*

Trichoblastoma is a benign cutaneous neoplasm that consists of follicular germinative cells. There have only been a few case reports describing the malignant counterpart of trichoblastoma. We report trichoblastic neoplasms that show histological features of malignancy. The histological sections revealed locally aggressive neoplasms showing prominent differentiation towards hair germ and follicular sheath with formation of papillary mesenchymal bodies and follicular bulb-like structures. The tumor was widely excised with a clear margin. No sign of recurrence has been noted 1 year later.
Hair ; Recurrence

Localized fibrous tumor is an uncommon submesothelial origin tumor found in pleura most commonly. Sixty five-year-old man with right lower quadrant pain was admitted. He was treated with resection of tumor and was diagnosed as localized fibrous tumor of pelvic cavity. He is now being followed up without any evidence of recurrence for 34 months. This case is presented with reviewing references.
Pleura ; Recurrence

We performed inferior oblique myectomy or Z-myotomy on 159 eyes of 121 patients who showed inferior oblique overaction. And the results were as follows; 1. Success rates were 95.5% in myectomy and 71.4% in Z-myotomy. 2. Recurrence rates were 2.7% in myectomy and 14.3% in Z-myotomy. 3. There were no complications including adherence syndrome.
Humans ; Recurrence

Sixteen prostatodynia cases entered the study on a trial of phenoxybenzamine (PBZ). We administered the PBZ with daily 10 mg dosage for 5 days (l st 5-day-course) to 16 cases, and then re-administered the PBZ (2nd 5-day-course) to the clinically recurred 5 cases. We obtained the following results. 1. After 1 st 5-day-course of PBZ, 7 cases of the 16 cases produced improvements on prostatic symptoms and urine flow rate, but recurrence was appeared in 5 cases of these 7 cases after 1-3 months of 1st 5-day-courSe of PBZ. 2. After 2nd 5-day-course of PBZ, 2 cases of these recurred 5 cases produced improvements on prostatic symptoms and urine flow rate. 3. 2 cases after 1st 5-day-course and 2 cases after 2nd 5-day-course produced improvements for about 1 year after 1 year after PBZ administration. Conclusively, 4 cases of the 16 cases (25%) produced improvements. >From the above data, we thought that PBZ trial to prostatodynia has a relatively considerable value.
Phenoxybenzamine* ; Recurrence

No abstract available.
Humans ; Recurrence*