Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.
Adult ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Molecular Biology ; Mutation, Missense ; Optic Atrophy ; Phenotype ; Tungsten ; Wolfram Syndrome

OBJECTIVE: Endometriosis is the presence of normal endometrial mucosa (glands and stroma) abnormally implanted on the outside of uterus. The pathophysiology of endometriosis is not clear yet, but Sampson's theory of the transplantation of endometrial tissue onto the pelvic peritoneum via retrograde menstruation is most widely accepted. Vascular endothelial cell growth factor (VEGF) is involved in the pathophysiology of endometriosis via its angiogenetic property. This study was designed to investigate whether single nucleotide polymorphism and its haplotype and diplotype of VEGF genes are associated with the risk of advanced endometriosis or not. METHODS: This study investigated 260 patients of endometriosis; they underwent operation, and were diagnosed with endometriosis stage III, IV histopathologically. And control group of 199 women underwent surgery with benign ovarian cyst. The single nucleotide polymorphisms of VEGF gene were -2578C>A, 405G>C, 936C>T. They were analyzed by polymerase chain reaction and restriction fragment length polymorphism, and haplotype and diplotype analysis were done. RESULTS: The result of this study showed no association among -2578C/A, 405G>C, 936C>T single nucleotide polymorphisms and severe endometriosis. Haplotype and diplotype of -2578C>A, 405G>C, 936C>T in the VEGF gene were shown to have no association with endometriosis. We found no association between VEGF genetic polymorphism and risk of endometriosis. And haplotype and diplotype analysis also revealed no statistically significant value between VEGF polymorphism and endometriosis. CONCLUSIONS: So, the results of this study suggest polymorphism of VEGF gene may not be associated with risk of endometriosis in Korean women.
Endometriosis ; Endothelial Cells ; Female ; Haplotypes ; Humans ; Menstruation Disturbances ; Mucous Membrane ; Ovarian Cysts ; Peritoneum ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Transplants ; Uterus ; Vascular Endothelial Growth Factor A

The purpose of this study was to establish a prediction rule for severe illness in adult patients hospitalized with pandemic influenza A (H1N1) 2009. At the time of initial presentation, the baseline characteristics of those with severe illness (i.e., admission to intensive care unit, mechanical ventilation, or death) were compared to those of patients with non-severe illnesses. A total of 709 adults hospitalized with pandemic influenza A (H1N1) 2009 were included: 75 severe and 634 non-severe cases. The multivariate analysis demonstrated that altered mental status, hypoxia (PaO2/FiO2 < or = 250), bilateral lung infiltration, and old age (> or = 65 yr) were independent risk factors for severe cases (all P < 0.001). The area under the ROC curve (0.834 [95% CI, 0.778-0.890]) of the number of risk factors were not significantly different with that of APACHE II score (0.840 [95% CI, 0.790-0.891]) (P = 0.496). The presence of > or = 2 risk factors had a higher sensitivity, specificity, positive predictive value and negative predictive value than an APACHE II score of > or = 13. As a prediction rule, the presence of > or = 2 these risk factors is a powerful and easy-to-use predictor of the severity in adult patients hospitalized with pandemic influenza A (H1N1) 2009.
APACHE ; Adult ; Aged ; Antiviral Agents/therapeutic use ; Female ; Hospitalization ; Humans ; Influenza A Virus, H1N1 Subtype/*isolation & purification ; Influenza, Human/drug therapy/*epidemiology/mortality ; Intensive Care Units ; Male ; Middle Aged ; Pandemics ; Predictive Value of Tests ; ROC Curve ; Respiration, Artificial ; Risk Factors ; Severity of Illness Index

PURPOSE: The goal of oncoplastic breast surgery is to restore the appearance of the breast and improve patient satisfaction. Thus, the assessment of cosmetic results and patient-reported outcomes (PROs) using appropriately constructed and validated instruments is essential. The aim of the present study was to assess the long-term objective cosmetic results and corresponding PROs after oncoplastic breast surgery. METHODS: Cosmetic results were assessed by the patients, a medical panel, and a computer program (BCCT.core). PROs were assessed using BREAST-Q, a questionnaire that measures the perception of patients having breast surgery. The cosmetic results and PROs were analyzed in patients who underwent quadrantectomy and partial breast reconstruction utilizing the latissimus dorsi flap. RESULTS: The mean duration of the follow-up period was 91.6 months (range, 33.3-171.0 months), and mean age of the patients was 51 years old (range, 33-72 years). The mean tumor size was 2.1 cm (range, 0.9-5.5 cm). There was fair agreement between the medical panel and BCCT.core score (K = 0.32, P < 0.001), and a statistically significant correlation between the BCCT.core score and medical panel cosmetic results was identified (r = 0.606, P < 0.001). A better BCCT.core result was related to a higher PRO of each BREAST-Q domain-satisfaction with breasts (R2 = 0.070, P = 0.039), satisfaction with outcome (R2 = 0.087, P = 0.021), psychosocial well-being (R2 = 0.085, P = 0.023), sexual well-being (R2 = 0.082, P = 0.029), and satisfaction with information (R2 = 0.064, P = 0.049). CONCLUSION: Our long-term results of oncoplastic surgery achieved a high level of patient satisfaction with good cosmetic results. The medical panel and BCCT.core results correlated well with the PROs of the patients using valid, reliable, and procedure-specific measures.
Breast* ; Female ; Follow-Up Studies ; Humans ; Mammaplasty ; Patient Satisfaction ; Pilot Projects* ; Quality of Life ; Superficial Back Muscles* ; Surgical Flaps