Adult ; Aged ; Antifungal Agents ; administration & dosage ; adverse effects ; classification ; Candida ; drug effects ; isolation & purification ; Carcinoma ; pathology ; therapy ; Cross Infection ; microbiology ; therapy ; Drug Resistance, Multiple, Fungal ; Female ; Fractures, Bone ; surgery ; Humans ; Male ; Middle Aged ; Mycoses ; microbiology ; therapy ; Patient Care Management ; methods ; Pulmonary Disease, Chronic Obstructive ; complications ; therapy ; Surgical Wound Infection ; microbiology ; therapy ; Symptom Flare Up ; Treatment Outcome

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

Kaposi's sarcoma (KS) is a vascular neoplasm originating from vascular and lymphatic endothelial cells. Iatrogenic KS mainly develops in organ transplant patients or after receiving immunosuppressive therapy. An 81-year-old man presented with multiple dark-purplish nodules, plaques, and patches on the right leg for 3 weeks. Previously, the patient was treated with prednisolone 10∼30 mg/day for chronic obstructive pulmonary disease for 3 months, and percutaneous transluminal angioplasty was performed 1 month previously for the treatment of peripheral arterial occlusive disease. A biopsy specimen of the nodule showed closely packed spindle cells forming slit-like vascular structures, which were consistent with KS. Despite the dosage reduction of prednisolone for treatment, the skin lesions progressed aggressively throughout the entire body, and the patient died after 5 months. We report a case of iatrogenic prednisolone-associated KS rapidly progressing to the entire body shortly thereafter.
Aged, 80 and over ; Angioplasty ; Arterial Occlusive Diseases ; Biopsy ; Endothelial Cells ; Glucocorticoids ; Humans ; Iatrogenic Disease ; Leg ; Prednisolone ; Pulmonary Disease, Chronic Obstructive ; Sarcoma, Kaposi* ; Skin ; Transplants ; Vascular Neoplasms

OBJECTIVES: The aim of this study was to assess the quality of life (QoL) of patients with multiple sclerosis (MS), and to investigate the effects of characteristics of MS such as disease course, severity, and relapses on patients' QoL. METHODS: This was a cross-sectional study, in which 171 patients were enrolled. Health-related QoL was assessed using the Persian version of the Multiple Sclerosis Quality of Life-54 questionnaire. To measure patients' disability status, we used the Expanded Disability Status Scale. Other variables included in the study were disease course and relapses of the disease. RESULTS: The average scores for patients' physical and mental QoL were 60.9±22.3 and 59.5±21.4, respectively. In a bivariate analysis, disease course, severity of the disease, and relapses were significantly associated with the physical and mental health composite scores. In a hierarchal regression analysis, disease course, severity of the disease, and relapses were responsible for 38 and 16% of the variance in physical and mental QoL, respectively. It was also observed that relapses were a strong predictor of both physical and mental QoL. CONCLUSIONS: Our results showed that disease characteristics significantly affected both dimensions of QoL. It is therefore suggested that health care providers should be aware of these characteristics of MS to more successfully improve MS patients' QoL.
Cross-Sectional Studies ; Disease Attributes ; Health Personnel ; Humans ; Iran ; Mental Health ; Multiple Sclerosis* ; Quality of Life* ; Recurrence

OBJECTIVES: The aim of this study was to assess the quality of life (QoL) of patients with multiple sclerosis (MS), and to investigate the effects of characteristics of MS such as disease course, severity, and relapses on patients' QoL.METHODS: This was a cross-sectional study, in which 171 patients were enrolled. Health-related QoL was assessed using the Persian version of the Multiple Sclerosis Quality of Life-54 questionnaire. To measure patients' disability status, we used the Expanded Disability Status Scale. Other variables included in the study were disease course and relapses of the disease.RESULTS: The average scores for patients' physical and mental QoL were 60.9±22.3 and 59.5±21.4, respectively. In a bivariate analysis, disease course, severity of the disease, and relapses were significantly associated with the physical and mental health composite scores. In a hierarchal regression analysis, disease course, severity of the disease, and relapses were responsible for 38 and 16% of the variance in physical and mental QoL, respectively. It was also observed that relapses were a strong predictor of both physical and mental QoL.CONCLUSIONS: Our results showed that disease characteristics significantly affected both dimensions of QoL. It is therefore suggested that health care providers should be aware of these characteristics of MS to more successfully improve MS patients' QoL.
Cross-Sectional Studies ; Disease Attributes ; Health Personnel ; Humans ; Iran ; Mental Health ; Multiple Sclerosis ; Quality of Life ; Recurrence

Periprosthetic gout flare is a rare arthritic condition after total knee arthroplasty, but the symptoms of gout may have often been mistaken as acute periprosthetic infection given their similarity. Misdiagnosis as periprosthetic infection can lead to unnecessary surgery, long-term dependence on anti-biotics, and even malfunction of the involved knee joint. Here, we report a case study of a patient with immunodeficiency condition of long-term oral glucocorticoid and diabetes mellitus, who had undergone a knee replacement 8 weeks before. The initial symptoms of fever and joint pain together with the dysfunction of her right knee with elevated inflammatory markers, such as increased serum leukocytes, erythrocyte sedimentation rate, C-reactive protein, and synovial cell counts led to a diagnosis of acute periprosthetic infection. Arthrocentesis and bacterial culture were performed preoperatively. According to the current Musculoskeletal Infection Society (MSIS) criteria for diagnosis of periprosthetic infection, the case was classified as periprosthetic infection and a prosthesis retained debridement surgery was performed. However we got negative culture results in all the pre-operative and intro-operative samples. The symptoms as well as the laboratory inflammatory markers improved shortly after the debridement surgery until the 11th day when all the similar systemic and local symptoms recurred. With a remedial crystal analysis of synovial fluid from the patient, gouty flare was found to be the cause of acute arthritis finally. Accor-dingly, after anti-gout medications were administrated, the symptoms associated with acute arthritis gra- dually subsided, and there was no recurrence during a 24-month follow-up. This article described the cli-nical manifestation, diagnosis and differential diagnosis, treatment of a case of periprosthetic gout. Although relatively rare, gout should be considered as a differential diagnosis in suspected periprosthetic infection. Current criteria for periprosthetic infection can not exclude the diagnosis of periprosthetic gout flare, it is therefore imperative that the analysis of joint aspirate for crystals be conducted to determine the correct course of treatment, or unnecessary surgical procedure may be performed in periprosthetic gout case.
Humans ; Female ; Arthroplasty, Replacement, Knee/methods* ; Gout/complications* ; Prosthesis-Related Infections/surgery* ; Symptom Flare Up ; C-Reactive Protein/analysis* ; Biomarkers/analysis*

Summary Phaeohyphomycosis refers to a heterogenous group of mycotic infections caused by dematiaceous fungi where unintentional traumatic inoculation accounts for majority of the cases. Herein, we are reporting a rare case of iatrogenic subcutaneous phaeohyphomycosis which is secondary to intravenous cannula placement.
Phaeohyphomycosis ; Iatrogenic Disease

Background: Premature menopause is a frequently overlooked condition with significant morbidity without timely intervention. Objective: This descriptive study explored the perceptions, concerns, and health-seeking behavior of two women diagnosed with premature menopause, regarding their illness. Methods: Authors interviewed two nulligravid patients less than 30 years old diagnosed with premature menopause. Verbal consent was sought prior to the interview. An interview guide adapted from the Explanatory Model (Kleinman) to probe each patient's perceptions, concerns and health-seeking behaviour regarding PM was used. Data validation was immediately sought after the interview with each patient before analysis. Thematic analysis was used to explore the patients' perceptions (physical, psychological, and social effects of PM) and health-seeking behavior that resulted from these effects. Results: Results showed that vasomotor symptoms, infertility, and treatment costs are important issues for these patients to help them undertsand their illness. The neglected role of physicians in fully disclosing the effects of the disease is highlighted in one patient that hindered her from making informed choices for treatment. The behavioural responses of these patients were influenced by the following factors: ability to make informed decisions over disease management, degree of disruption of activities of daily living, infertility, amount of social and financial support. Conclusion Looking at the underlying motivations of women diagnosed with premature menopause about their illness may help physicians better understand patients' circumstances, how it affects them and their families, and their expected recovery process.
Health Behavior ; Iatrogenic Disease

Kaposi sarcoma (KS) is a lymphoangioproliferative condition linked to human herpesvirus-8. KS presents in four clinical variants: classic, iatrogenic, endemic, and AIDSrelated. The classic type has a chronic course and primarily affects people of Eastern European Jewish or Mediterranean heritage, with a higher incidence in males." Approximately 70% of patients respond partially or satisfactorily to treatment, 20% experience recurrence, and 10% show progression despite treatment.? Furthermore, there have been documented cases of self-regression in the classic type of KS.2
Sarcoma, Kaposi ; Iatrogenic Disease