Clinical Diabetes and Endocrinology最新文献

Background: 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.

Methods: A retrospective chart review of patients with acromegaly who underwent surgical resection between 2003 and 2018.

Results: 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 (P = 0.024) and cavernous sinus invasion (P = 0.028) were predictors for failure to respond to surgery.

Conclusion: 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.

Aim: 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.

Method: 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).

Results: 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.

Conclusion: 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.

Background: Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated with generalized fat loss.

Case presentation: Here, we report a patient with a lamin A specific pathogenic variant in exon 11, denoted LMNA (c.1745G > A; p.R582H), present in the homozygous state. Fat distribution was compared radiographically to an unrelated heterozygote LMNA p.R582H patient from another pedigree, a healthy female control, a series of adult female subjects with congenital generalized lipodystrophy type 1 (CGL1, n = 9), and typical FPLD2 (n = 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 LMNA 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 LMNA 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.

Conclusions: Our observations and radiological comparisons demonstrate an additive effect of LMNA 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 LMNA gene, our observation suggests that genetic factors modulate the extent of fat loss in LMNA associated lipodystrophy.

Background: 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.

Case presentation: 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.

Conclusion: 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.

Background: 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.

Main: 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.

Conclusion: 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.

Background: 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.

Methods: 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, n = 20), Group B (DM without OSAS, n = 20), Group C (Non DM with OSAS, n = 10) and Group D (Non DM without OSAS, n = 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.

Results: 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 (p 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).

Conclusions: OSAS has a significant impact on the glycemic variability irrespective of glycemic status. AHI has moderate positive correlation with the glycemic variability.

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Background: 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.

Case presentation: 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 CAVIN1 gene, confirming the diagnosis of CGL type 4.

Conclusions: 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.

Background: Thyroid ultrasound is usually used to risk-stratify incidental thyroid nodules. Nodules with high risk sonographic features for malignancy are evaluated by fine-needle aspiration. The role of core needle biopsy for thyroid nodules is limited to cases where the fine needle aspiration is inconclusive.

Case presentation: We describe a rare case of mesenchymal chondrosarcoma of the thyroid gland with uncertain primary origin. Thyroid ultrasound showed right sided large, solid, hypoechoic nodule with calcifications and peripheral vascularity and unremarkable isthmus and left thyroid lobe. Fine needle aspiration of the right nodule suggested lymphocytic thyroiditis. The sonographic findings contradicted the typical bilateral clinical and sonographic picture of lymphocytic thyroiditis. A core needle biopsy showed mesenchymal chondrosarcoma.

Conclusion: This case highlights the importance of correlating pathologic diagnosis with sonographic findings, the appropriate utilization of fine needle aspiration and core needle biopsy to evaluate thyroid nodules and the rare incidence of mesenchymal chondrosarcoma involving the thyroid.