Clinical Diabetes and Endocrinology最新文献

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Acromegaly: a clinical perspective. 肢端肥大症:临床视角。
Clinical Diabetes and Endocrinology Pub Date : 2020-08-20 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00104-5
Lima Lawrence, Kenda Alkwatli, James Bena, Richard Prayson, Varun Kshettry, Pablo Recinos, Betul Hatipoglu, Kevin M Pantalone, Robert Weil, Amir H Hamrahian, Laurence Kennedy, Divya Yogi-Morren
{"title":"Acromegaly: a clinical perspective.","authors":"Lima Lawrence,&nbsp;Kenda Alkwatli,&nbsp;James Bena,&nbsp;Richard Prayson,&nbsp;Varun Kshettry,&nbsp;Pablo Recinos,&nbsp;Betul Hatipoglu,&nbsp;Kevin M Pantalone,&nbsp;Robert Weil,&nbsp;Amir H Hamrahian,&nbsp;Laurence Kennedy,&nbsp;Divya Yogi-Morren","doi":"10.1186/s40842-020-00104-5","DOIUrl":"https://doi.org/10.1186/s40842-020-00104-5","url":null,"abstract":"<p><strong>Background: </strong>To examine the clinical and hormonal profiles, comorbidities, treatment patterns, surgical pathology and clinical outcomes of patients diagnosed with acromegaly at the Cleveland Clinic over a 15-year period.</p><p><strong>Methods: </strong>A retrospective chart review of patients with acromegaly who underwent surgical resection between 2003 and 2018.</p><p><strong>Results: </strong>A total of 136 patients (62 men; mean age 48.1 years) with biochemical evidence of acromegaly were analyzed. Median insulin-like growth factor 1 (IGF-1) level at diagnosis was 769.0 ng/mL and most patients had a macroadenoma (82.2%). Immunoreactivity to growth hormone (GH) was noted in 124 adenomas, with co-staining in 89 adenomas. Complete visible tumor resection during initial surgery was achieved in 87 patients (64.0%). In this cohort, complete response to surgery alone was observed in 61 patients (70.1%), while 31 out of 65 patients (47.7%) who received additional post-surgical medications and/or radiation therapy achieved complete response. At most recent follow-up, 92 patients achieved eventual complete response by documented normalization of IGF-1 levels. Higher IGF-1 level at diagnosis (<i>P</i> = 0.024) and cavernous sinus invasion (<i>P</i> = 0.028) were predictors for failure to respond to surgery.</p><p><strong>Conclusion: </strong>In this study, the majority of tumors were macroadenoma, plurihormonal, and treated effectively with surgery alone or surgery with adjuvant medical or radiation therapy. More studies are needed to identify additional molecular biomarkers, tumor characteristics and imaging findings to individualize treatment and better predict treatment outcomes.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2020-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00104-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38307551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Psychosocial distress, clinical variables and self-management activities associated with type 2 diabetes: a study in Ghana. 与2型糖尿病相关的社会心理困扰、临床变量和自我管理活动:加纳的一项研究
Clinical Diabetes and Endocrinology Pub Date : 2020-07-14 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00102-7
Margaret Amankwah-Poku, Albert G B Amoah, Araba Sefa-Dedeh, Josephine Akpalu
{"title":"Psychosocial distress, clinical variables and self-management activities associated with type 2 diabetes: a study in Ghana.","authors":"Margaret Amankwah-Poku,&nbsp;Albert G B Amoah,&nbsp;Araba Sefa-Dedeh,&nbsp;Josephine Akpalu","doi":"10.1186/s40842-020-00102-7","DOIUrl":"https://doi.org/10.1186/s40842-020-00102-7","url":null,"abstract":"<p><strong>Aim: </strong>Psychosocial distress can act as a barrier to diabetes self-care management and thus compromise diabetes control. Yet in Ghana, healthcare centres mainly focus on the medical aspect of diabetes to the neglect of psychosocial care. This study determined the relationship amongst psychosocial distress, clinical variables, and self-management activities associated with type 2 diabetes management.</p><p><strong>Method: </strong>Questionnaires were administered to 162 patients from four hospitals in Accra, Ghana, to assess psychosocial distress (e.g. diabetes distress), clinical variables (e.g. glycaemic control), and self- management activities (e.g. medication intake) related to diabetes. In assessing diabetes distress, the use of the PAID allowed evaluation of broader range of emotional concerns (diabetes-related emotional distress), while the DDS allowed evaluation of factors more closely related to diabetes self-management (diabetes distress).</p><p><strong>Results: </strong>Diabetes-related emotional distress, diabetes distress and depressive symptoms were reciprocally positively correlated, while non-supportive family behaviour correlated negatively with these psychological variables. Diabetes-related emotional distress correlated positively with systolic and diastolic blood pressure, and correlated negatively with exercise regimen. On the other hand, diabetes distress correlated negatively with dietary and exercise regimen and correlated positively with glycaemic levels, while depressive symptoms correlated positively with glycaemic levels, diabetes complication and systolic blood pressure. Contrary to the literature, non-supportive family behaviour correlated positively with diet, exercise and medication regimen.</p><p><strong>Conclusion: </strong>The positive association of psychological variables with glycaemic levels and blood pressure levels, and the positive association of non-supportive family behaviour with self-management activities suggests the need for psychosocial care to be incorporate in the management of type 2 diabetes in Ghana. Patients can be screened for diabetes-related distress and symptoms of depression and provided psychosocial care where necessary.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2020-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00102-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38170242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy. 纯合子LMNA p.R582H致病变异揭示了对脂肪营养不良患者脂肪减少严重程度的影响。
Clinical Diabetes and Endocrinology Pub Date : 2020-07-14 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00100-9
Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral
{"title":"Homozygous <i>LMNA</i> p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.","authors":"Utku Erdem Soyaltin,&nbsp;Ilgin Yildirim Simsir,&nbsp;Baris Akinci,&nbsp;Canan Altay,&nbsp;Suleyman Cem Adiyaman,&nbsp;Kristen Lee,&nbsp;Huseyin Onay,&nbsp;Elif Arioglu Oral","doi":"10.1186/s40842-020-00100-9","DOIUrl":"https://doi.org/10.1186/s40842-020-00100-9","url":null,"abstract":"<p><strong>Background: </strong>Classical heterozygous pathogenic variants of the lamin A/C (<i>LMNA</i>) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of <i>LMNA</i> pathogenic variants, and a few patients have been associated with generalized fat loss.</p><p><strong>Case presentation: </strong>Here, we report a patient with a lamin A specific pathogenic variant in exon 11, denoted <i>LMNA</i> (c.1745G > A; p.R582H), present in the homozygous state. Fat distribution was compared radiographically to an unrelated heterozygote <i>LMNA</i> p.R582H patient from another pedigree, a healthy female control, a series of adult female subjects with congenital generalized lipodystrophy type 1 (CGL1, <i>n</i> = 9), and typical FPLD2 (<i>n</i> = 8). The whole-body MRI of the index case confirmed near-total loss of subcutaneous adipose tissue with well-preserved fat in the retroorbital area, palms and soles, mons pubis, and external genital region. This pattern resembled the fat loss pattern observed in CGL1 with only one difference: strikingly more fat was observed around mons pubis and the genital region. Also, the p.R582H <i>LMNA</i> variant in homozygous fashion was associated with lower leptin level and earlier onset of metabolic abnormalities compared to heterozygous p.R582H variant and typical FPLD2 cases. On the other hand, the heterozygous <i>LMNA</i> p.R582H variant was associated with partial fat loss which was similar to typical FPLD2 but less severe than the patients with the hot-spot variants at position 482.</p><p><strong>Conclusions: </strong>Our observations and radiological comparisons demonstrate an additive effect of <i>LMNA</i> pathogenic variants on the severity of fat loss and add to the body of evidence that there may be complex genotype-phenotype relationships in this interesting disease known as FPLD2. Although the pathological basis for fat loss is not well understood in patients harboring pathogenic variants in the <i>LMNA</i> gene, our observation suggests that genetic factors modulate the extent of fat loss in <i>LMNA</i> associated lipodystrophy.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2020-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00100-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38170241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia. 非创伤性骨折的罕见病因:四名肿瘤诱发骨软化症患者的病例系列。
Clinical Diabetes and Endocrinology Pub Date : 2020-07-06 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00101-8
Debbie W Chen, Gregory A Clines, Michael T Collins, Liselle Douyon, Palak U Choksi
{"title":"A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia.","authors":"Debbie W Chen, Gregory A Clines, Michael T Collins, Liselle Douyon, Palak U Choksi","doi":"10.1186/s40842-020-00101-8","DOIUrl":"10.1186/s40842-020-00101-8","url":null,"abstract":"<p><strong>Background: </strong>Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that presents with hypophosphatemia, bone pain, muscle weakness and fractures. We report a case series of four patients with TIO that resulted in significant muscle weakness and multiple atraumatic fractures.</p><p><strong>Case presentation: </strong>Four patients were referred to an endocrinology clinic for the evaluation of multiple atraumatic fractures, muscle weakness, generalized muscle and joint pain. Laboratory evaluation was notable for persistent hypophosphatemia due to urinary phosphate wasting, low to low-normal 1,25-dihydroxyvitamin D, elevated alkaline phosphatase and elevated fibroblast growth factor 23 (FGF23). Tumor localization was successful, and all four patients underwent resection of phosphaturic mesenchymal tumors. Post-operatively, patients exhibited normalization of serum phosphorus, in addition to significant improvement in their ambulatory function.</p><p><strong>Conclusion: </strong>Hypophosphatemia with elevated FGF23 and low 1,25-dihydroxyvitamin D level in the setting of multiple atraumatic fractures necessitates careful evaluation for biochemical evidence of tumor-induced osteomalacia.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"12"},"PeriodicalIF":0.0,"publicationDate":"2020-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38144533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonalcoholic fatty liver disease and type 2 diabetes: where do Diabetologists stand? 非酒精性脂肪肝与 2 型糖尿病:糖尿病专家的立场是什么?
Clinical Diabetes and Endocrinology Pub Date : 2020-06-05 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00097-1
Shaheen Tomah, Naim Alkhouri, Osama Hamdy
{"title":"Nonalcoholic fatty liver disease and type 2 diabetes: where do Diabetologists stand?","authors":"Shaheen Tomah, Naim Alkhouri, Osama Hamdy","doi":"10.1186/s40842-020-00097-1","DOIUrl":"10.1186/s40842-020-00097-1","url":null,"abstract":"<p><strong>Background: </strong>Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide. The increasing prevalence of NAFLD mirrors that of obesity and type 2 diabetes over the last two decades.</p><p><strong>Main: </strong>In a two-way pathophysiologic relationship, NAFLD increases the risk of developing type 2 diabetes, while the latter promotes the progression of simple fatty liver to a more advanced form called nonalcoholic steatohepatitis (NASH). NASH increases the risk of cirrhosis and hepatocellular carcinoma (HCC), which may require liver transplantation. With the absence of FDA-approved medications for NAFLD treatment, lifestyle intervention remains the only therapy. Lately, extensive research efforts have been aimed at modifying NASH fibrosis and developing noninvasive screening methods.</p><p><strong>Conclusion: </strong>We highlight the pathophysiologic relationships between NAFLD and type 2 diabetes, discuss disease recognition, models of care, and current and emerging therapies for NASH treatment.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"9"},"PeriodicalIF":0.0,"publicationDate":"2020-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38027564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A study of glycemic variability in patients with type 2 diabetes mellitus with obstructive sleep apnea syndrome using a continuous glucose monitoring system. 使用连续血糖监测系统研究2型糖尿病合并阻塞性睡眠呼吸暂停综合征患者的血糖变异性。
Clinical Diabetes and Endocrinology Pub Date : 2020-06-05 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00098-0
Suhas S Khaire, Jugal V Gada, Ketaki V Utpat, Nikita Shah, Premlata K Varthakavi, Nikhil M Bhagwat
{"title":"A study of glycemic variability in patients with type 2 diabetes mellitus with obstructive sleep apnea syndrome using a continuous glucose monitoring system.","authors":"Suhas S Khaire,&nbsp;Jugal V Gada,&nbsp;Ketaki V Utpat,&nbsp;Nikita Shah,&nbsp;Premlata K Varthakavi,&nbsp;Nikhil M Bhagwat","doi":"10.1186/s40842-020-00098-0","DOIUrl":"https://doi.org/10.1186/s40842-020-00098-0","url":null,"abstract":"<p><strong>Background: </strong>Obstructive sleep apnea syndrome (OSAS) in association with Type 2 Diabetes Mellitus (DM) may result in increased glycemic variability affecting the glycemic control and hence increasing the risk of complications associated with diabetes. We decided to assess the Glycemic Variability (GV) in patients with type 2 diabetes with OSAS and in controls. We also correlated the respiratory disturbance indices with glycemic variability indices.</p><p><strong>Methods: </strong>After fulfilling the inclusion and exclusion criteria patients from the Endocrinology and Pulmonology clinics underwent modified Sleep Apnea Clinical Score (SACS) followed by polysomnography (PSG). Patients were then divided into 4 groups: Group A (DM with OSAS, <i>n</i> = 20), Group B (DM without OSAS, <i>n</i> = 20), Group C (Non DM with OSAS, <i>n</i> = 10) and Group D (Non DM without OSAS, <i>n</i> = 10). Patients in these groups were subjected to continuous glucose monitoring using the Medtronic iPro2 and repeat PSG. Parameters of GV: i.e. mean glucose, SD (standard Deviation), CV (Coefficient of Variation), Night SD, Night CV, MAGE and NMAGE were calculated using the Easy GV software. GV parameters and the respiratory indices were correlated statistically. Quantitative data was expressed as mean, standard deviation and median. The comparison of GV indices between different groups was performed by one-way analysis of variance (ANOVA) or Kruskal Wallis (for data that failed normality). Correlation analysis of AHI with GV parameters was done by Pearson correlation.</p><p><strong>Results: </strong>All the four groups were adequately matched for age, sex, Body Mass Index (BMI), waist circumference (WC) and blood pressure (BP). We found that the GV parameters Night CV, MAGE and NMAGE were significantly higher in Group A as compared to Group B (p values < 0.05). Similarly Night CV, MAGE and NMAGE were also significantly higher in Group C as compared to Group D (<i>p</i> value < 0.05). Apnea-hypopnea index (AHI) correlated positively with Glucose SD, MAGE and NMAGE in both diabetes (Group A plus Group B) and non- diabetes groups (Group C plus Group D).</p><p><strong>Conclusions: </strong>OSAS has a significant impact on the glycemic variability irrespective of glycemic status. AHI has moderate positive correlation with the glycemic variability.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2020-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00098-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38027464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Improving the transitioning of pediatric patients with type 1 diabetes into adult care by initiating a dedicated single session transfer clinic. 通过启动一个专门的单期转移诊所,改善儿科1型糖尿病患者向成人护理的过渡。
Clinical Diabetes and Endocrinology Pub Date : 2020-06-05 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00099-z
Sarah Williams, Leigh Anne Allwood Newhook, Heather Power, Rayzel Shulman, Sharon Smith, Roger Chafe
{"title":"Improving the transitioning of pediatric patients with type 1 diabetes into adult care by initiating a dedicated single session transfer clinic.","authors":"Sarah Williams,&nbsp;Leigh Anne Allwood Newhook,&nbsp;Heather Power,&nbsp;Rayzel Shulman,&nbsp;Sharon Smith,&nbsp;Roger Chafe","doi":"10.1186/s40842-020-00099-z","DOIUrl":"https://doi.org/10.1186/s40842-020-00099-z","url":null,"abstract":"<p><strong>Background: </strong>Young adults with type 1 diabetes face potential health problems and disruptions in accessing care related to their move from pediatrics into adult care. At a medium-sized pediatric hospital with no formal transition support program, we developed and evaluated the use of a single-session transfer clinic as an initial quality improvement intervention to improve patient satisfaction, clinic attendance, and knowledge of transition related issues.</p><p><strong>Methods: </strong>Following a jurisdictional scan of other diabetes programs, the pediatric diabetes program developed a half-day transfer clinic. After the first transfer clinic was held, evaluation surveys were completed by patients, parents, and healthcare providers. Based on the feedback received, we altered the structure and evaluated the revised clinic by surveying patients and parents.</p><p><strong>Results: </strong>All patients and parents who attended reported high levels of satisfaction with the clinic. Providers were also mostly positive regarding their participation. Feedback from the first clinic was used to modify the structure of the second clinic to better meet the needs of participants and to allow the clinic to run more efficiently. The use of group sessions and adapting resources developed by other diabetes programs were viewed favourably by participants and lessened the burden on staff who delivered the clinic.</p><p><strong>Conclusions: </strong>A half-day transfer clinic is a viable step towards improving patient and parent satisfaction during the transition into adult care without requiring additional staff or significant expenditures of new resources. This type of clinic can also be incorporated into a larger program of transition supports or be adopted by programs serving young adults with other chronic diseases.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2020-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00099-z","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38027465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Making the equivocal unequivocal: standardization of clean margins in diabetic foot osteomyelitis. 使模棱两可明确:糖尿病足骨髓炎干净边缘的标准化。
Clinical Diabetes and Endocrinology Pub Date : 2020-05-20 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00096-2
Brian M Schmidt, Christine Jarocki
{"title":"Making the equivocal unequivocal: standardization of clean margins in diabetic foot osteomyelitis.","authors":"Brian M Schmidt,&nbsp;Christine Jarocki","doi":"10.1186/s40842-020-00096-2","DOIUrl":"https://doi.org/10.1186/s40842-020-00096-2","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of diabetes mellitus continues to rise. Diabetic foot ulcers with osteomyelitis are a diabetes-related complication presenting a significant burden to this cohort. A cure to diabetic foot osteomyelitis remains elusive and standard of care has failed to improve outcomes. To advance research and better patient outcomes, the authors offer specific guidance with terminology to enhance operative dictations which may improve surgical practice and guide treatment.</p><p><strong>Methods: </strong>A consecutive review of podiatric surgical dictations for inpatient diabetic foot osteomyelitis within a tertiary care facility was performed. Surgical descriptors of bone were standardized: density, anatomic structure, vascular thrombosis, color, and draining sinus. Correlations between the five categories and histopathological results were performed after kappa analysis for interrater reliability was performed.</p><p><strong>Results: </strong>Kappa coefficient demonstrated high inter-reliability of surgical findings. This suggests potential agreement amongst surgeons performing similar procedures. It was also found that specific bone descriptors had moderate to strong correlation with clean histopathologic bone margins when biopsied. This further suggests that the use of standardized terms may help guide definitive therapy.</p><p><strong>Conclusions: </strong>The authors suggest a standardized approach which includes consistent descriptors of intraoperative bone. With use of standardized terms, vague and blanket descriptors are eliminated. This has potential to improve understanding of changes within bone as a result of infection and diabetes. Early and improved communication of intraoperative findings will enhance the multidisciplinary approach. This could potentially lead to changes in diabetic foot management and may limit hospital waste waiting for final cultures and pathology reports.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2020-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00096-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37992440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant. 1例新型E211X CAVIN1基因变异患者的先天性广泛性脂肪营养不良4型异常临床特征
Clinical Diabetes and Endocrinology Pub Date : 2020-05-14 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00095-3
Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov
{"title":"Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X <i>CAVIN1</i> gene variant.","authors":"Ekaterina Sorkina,&nbsp;Polina Makarova,&nbsp;Liubov Bolotskaya,&nbsp;Irina Ulyanova,&nbsp;Tatyana Chernova,&nbsp;Anatoly Tiulpakov","doi":"10.1186/s40842-020-00095-3","DOIUrl":"https://doi.org/10.1186/s40842-020-00095-3","url":null,"abstract":"<p><strong>Background: </strong>Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause CGL with 4 main types recognized to date, which differ by the degree of fat loss, association with mental retardation and metabolic disorders, with CGL type 1 and 2 being the most common. Twenty seven cases of СGL type 4 from Japan, Oman, UK, Turkey, Mexico, Saudi Arabia, USA were reported previously. This report details our clinical experience with the first patient from Russia with CGL type 4.</p><p><strong>Case presentation: </strong>A 36-year-old patient, who has been suffering from generalized lipoatrophy since the first months of life and myopathy and gastrointestinal dysmotility since early childhood, developed dysmenorrhea and diabetes mellitus at the age of 19, bilateral cataracts when she was only 22 y.o., osteoporosis with vitamin D deficiency and hypocalcemia at the age of 28, diabetic foot syndrome and hyperuricemia when she was 35 y.o. Sequencing of lipodystrophy candidate genes detected a novel pathogenic homozygous variant p.631G < T: p.E211X in the <i>CAVIN1</i> gene, confirming the diagnosis of CGL type 4.</p><p><strong>Conclusions: </strong>In comparison with previously reported patients with CGL type 4, our patient has diabetes mellitus, vitamin D deficiency, hypocalcemia, bilateral cataracts and hyperuricemia. All these manifestations are known to be associated with other lipodystrophy syndromes, but to our knowledge it is the first time they have been reported to be associated with CGL type 4.</p>","PeriodicalId":56339,"journal":{"name":"Clinical Diabetes and Endocrinology","volume":"6 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2020-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40842-020-00095-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37984378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
A challenging case of Mesenchymal Chondrosarcoma involving the thyroid and special considerations for diagnosis. 一个具有挑战性的病例间充质软骨肉瘤涉及甲状腺和特殊的诊断考虑。
Clinical Diabetes and Endocrinology Pub Date : 2020-03-11 eCollection Date: 2020-01-01 DOI: 10.1186/s40842-020-00094-4
Noura Nachawi, Madelyn Lew, Kristine Konopka, Zahrae Sandouk
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引用次数: 4
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