Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

CONTEXT: Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired disorders characterized by generalized or partial loss of adipose tissue. LMNA-related lipodystrophy syndromes are classified based on the severity and distribution of adipose tissue loss. OBJECTIVE: We aimed to annotate all clinical and metabolic features of patients with lipodystrophy syndromes carrying pathogenic LMNA variants and assess potential genotype-phenotype relationships. METHODS: We retrospectively reviewed and analyzed all our cases (n = 115) and all published cases (n = 379) curated from 94 studies in the literature. RESULTS: The study included 494 patients. The most common variants in our study, R482Q and R482W, were associated with similar metabolic characteristics and complications though those with the R482W variant were younger (aged 33 [24] years vs 44 [25] years; P < .001), had an earlier diabetes diagnosis (aged 27 [18] vs 40 [17] years; P < .001) and had lower body mass index levels (24 [5] vs 25 [4]; P = .037). Dyslipidemia was the earliest biochemical evidence described in 83% of all patients at a median age of 26 (10) years, while diabetes was reported in 61% of cases. Among 39 patients with an episode of acute pancreatitis, the median age at acute pancreatitis diagnosis was 20 (17) years. Patients who were reported to have diabetes had 3.2 times, while those with hypertriglyceridemia had 12.0 times, the odds of having pancreatitis compared to those who did not. CONCLUSION: This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.

Safe Use of Hyperbaric Oxygen Therapy in the Treatment of Diabetic Foot Ulcers: A Multidisciplinary Approach to Minimize Adverse Effects.

Purpose: The purpose of this study is to evaluate the side effects associated with hyperbaric oxygen therapy and provide recommendations to prevent them in patients with diabetic foot ulcers. Introduction: The use of hyperbaric oxygen therapy in the treatment of diabetic foot ulcers remains a contentious issue, and minimizing side effects is critical. While the incidence of side effects related to hyperbaric oxygen (HBO2) therapy is low, it is essential to evaluate cases in a multifaceted and interdisciplinary manner to prevent adverse outcomes. Methods: A retrospective cohort study was conducted over the period of 2018-2020, involving a dataset of 100 patients. The primary objective of the study was to examine the frequency and types of side effects experienced by patients who underwent hyperbaric oxygen therapy (HBO) for diabetic foot ulcers (DFUs). In addition, we analyzed various wound characteristics, characteristics of hospitalizations, the surgical or medical interventions received by patients, and laboratory parameters including CRP levels, total blood count, culture results, HbA1c levels, duration of diabetes, treatment received for diabetes, and antibiotic therapy regimens. Results: The percentage of patients who experienced side effects was as low as 6%, and none of them were critical. The most common side effect was discomfort due to the confined space in the chamber. Conclusion: Appropriate patient selection, combined with a multidisciplinary approach to evaluate eligibility, is crucial to avoid adverse side effects. Patient education and early screening for side effects are also essential. Since various treatment protocols exist for HBO2 therapy, pooled data from different protocols may be misleading. Further studies focused on side effects with specific indications are necessary.

Efficacy of telemedicine applications in patients with diabetic foot ulcers: A focus on mortality and major amputation rates.

Amputations related to diabetic foot ulcers (DFU) are associated with high morbidity and mortality rates. Glycaemic control and close follow-up protocols are essential to prevent such ulcers. Coronavirus disease (COVID) related restrictions and regulations might have a negative impact on patients who are with DFU or candidates for DFU. We retrospectively analysed 126 cases that had DFU underwent amputation surgery. Comparative analyses were done between cases that were admitted before COVID restrictions (Group A) and cases admitted after COVID restrictions (Group B). Two groups were homogenic demographically. There was no significant difference between groups in terms of mortality (p = 0.239) and amputation rates (p = 0.461). The number of emergent cases in the pandemic period doubled the number in pre-pandemic period even though this finding was not statistically significant (p = 0.112). Fastly adapted consulting practice and follow-up protocols to compensate for the problems created by COVID-related regulations seem to be effective in terms of mortality and amputation rates.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.

OBJECTIVE: High triglyceride (TG) levels are associated with an increased risk for atherosclerotic cardiovascular disease (ASCVD) and pancreatitis. The objectives for this study were to evaluate for the coexistence of severe HTG and pancreatitis in two different geographic regions of Turkey and to identify rare variants that cause monogenic HTG in our country. METHODS: In our study from 2014 to 2019, patients with severe HTG who presented to the endocrinology outpatient clinics with TG levels >500 mg/dL (5.7 mmol/L) were evaluated. The LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE genes were sequenced using next generation sequencing to screen for potentially pathogenic variants. RESULTS: Potentially pathogenic variants were identified in 64 (47.1%) of 136 patients. Variants in LPL were seen in 42 (30.9%) cases, APOA5 variants in 10 (7.4%) cases, APOC2 variants in 5 (3.7%) cases, LMF1 variants in 5 (3.7%) cases, and APOE mutations in 2 (1.5%) cases. In the subgroup that experienced pancreatitis (n = 76, 56.3%), LPL variants were seen at higher frequency (P <0.001) than in the subgroup with no history of pancreatitis (n = 60, 43.7%). Patients who developed pancreatitis (56.3%) demonstrated a median TG of 2083 mg/dL (23.5 mmol/L), and patients without pancreatitis (43.7%) demonstrated a median TG of 1244.5 mg/dL (14.1 mmol/L) (P <0.001). CONCLUSION: Accurate approach to HTG diagnosis is important for the prevention of pancreatitis and ASCVD. Evaluation of variants in primary HTG after excluding secondary causes may help provide a patient-centric precision treatment plan.

The effect of serum lipid levels on peripheral blood hematopoietic stem cell levels.

INTRODUCTION: There are limited numbers of available retrospective studies on various hematological diseases treated with stem cell mobilization therapy. In the present study, we aimed to demonstrate the effects of serum lipid levels on peripheral blood CD34+ (PBCD34+) cell counts as well as the changes in serum lipid levels during stem cell mobilization process. METHOD: PBCD34+ cell counts were compared between hypercholesterolemic patients and healthy individuals. Additionally, total cholesterol (TChol), LDL-cholesterol (LDL-C), HDL-cholesterol (HDL-C), and triglyceride (TG) levels were measured from healthy donors who underwent stem cell mobilization, at different time points (prior to filgrastim [phase 1], prior to apheresis [phase II], and the first week following apheresis [phase III]. RESULTS: In the hypercholesterolemia group, the PBCD34+ cell count was found to be higher among patients with elevated LDL-C (2.6 ± 0.35/µL vs. 1.7 ± 0.17/µL, p = 0.003) and TChol (2.6 ± 0.34/µL vs. 1.7 ± 0.14/µL, p = 0.006) in comparison to the healthy controls. In the mobilization group, phase II HDL-C levels (35.3 ± 2.8 mg/dL) were found to be lower than both phase I (45.6 ± 2.1 mg/dL) and phase III (44.5 ± 2.6 mg/dL) (p = 0.007). Phase II TChol levels (183.5 ± 10.0 mg/dL) were lower than both phase I (216.8 ± 8.5 mg/dL) and phase III (212.2 ± 8.4 mg/dL) (p = 0.02). At phase II, there was an inverse correlation between PBCD34+ cell count and HDL-C (r = - 0.57, p = 0.003). DISCUSSION: Our results indicate that, while increased LDL-C level is the determinant of baseline PBCD34+ cell count, reduced HDL-C is the determinant of PBCD34+ cell count during mobilization process.

Identification of Resistance to Exogenous Thyroxine in Humans.

Background: Thyroxine (T4) to triiodothyronine (T3) deiodination in the hypothalamus/pituitary is mediated by deiodinase type-2 (D2) activity. Dio2(-/-) mice show central resistance to exogenous T4. Patients with resistance to exogenous thyroxine (RETH) have not been described. The aim of this study was to identify hypothyroid patients with thyrotropin (TSH) unresponsiveness to levothyroxine (LT4) and to characterize the clinical, hormonal, and genetic features of human RETH. Methods: We investigated hypothyroid patients with elevated TSH under LT4 treatment at doses leading to clinical and/or biochemical hyperthyroidism. TSH and free T4 (fT4) were determined by chemiluminescence, and total T4, T3, and reverse T3 (rT3) by radioimmunoassay. TSH/fT4 ratio at inclusion and T3/T4, rT3/T4, and T3/rT3 ratios at follow-up were compared with those from patients with resistance to thyroid hormone (RTH) due to thyroid hormone receptor-ß (THRB) mutations. DIO2, including the Ala92-D2 polymorphism, selenocysteine binding protein 2 (SECISBP2), and THRB were fully sequenced. Results: Eighteen hypothyroid patients (nine of each sex, 3-59 years) treated with LT4 showed elevated TSH (15.5 ± 4.7 mU/L; reference range [RR]: 0.4-4.5), fT4 (20.8 ± 2.4 pM; RR: 9-20.6), and TSH/fT4 ratio (0.74 ± 0.25; RR: 0.03-0.13). Despite increasing LT4 doses from 1.7 ± 1.0 to 2.4 ± 1.7 µg/kg/day, TSH remained elevated (6.9 ± 2.7 mU/L). Due to hyperthyroid symptoms, LT4 doses were reduced, and TSH increased again to 7.9 ± 3.2 mU/L. In the euthyroid/hyperthyrotropinemic state, T3/T4 and T3/rT3 ratios were decreased (9.2 ± 2.4, RR: 11.3-15.3 and 2.5 ± 1.4, RR: 7.5-8.5, respectively) whereas rT3/T4 was increased (0.6 ± 0.2; RR: 0.43-0.49), suggesting reduced T4 to T3 and increased T4 to rT3 conversion. These ratios were serum T4-independent and were not observed in RTH patients. Genetic testing was normal. The Ala92-D2 polymorphism was present in 7 of 18 patients, but the allele dose did not correlate with RETH. Conclusions: Human RETH is characterized by iatrogenic thyrotoxicosis and elevated TSH/fT4 ratio. In the euthyroid/hyperthyrotropinemic state, it is confirmed by decreased T3/T4 and T3/rT3 ratios, and elevated rT3/T4 ratio. This phenotype may guide clinicians to consider combined T4+T3 therapy in a targeted fashion. The absence of germline DIO2 mutations suggests that aberrant post-translational D2 modifications in pituitary/hypothalamus or defects in other genes regulating the T4 to T3 conversion pathway could be involved in RETH.

Review of Factors Contributing to Nodular Goiter and Thyroid Carcinoma.

There is an increased incidence of thyroid nodules and cancer. In this article, the reasons for this increase are evaluated and discussed. The factors causing increases in the incidence of nodules are the same as those causing increases in thyroid cancer. There are publications from all over the world regarding the rising incidence of thyroid cancer; it is especially associated with papillary cancer. The literature was reviewed and evaluated with regard to this significant phenomenon. Thyroid-stimulating hormone (TSH) is the main mitotic factor. Any agent that elevates TSH will stimulate nodule formation. Therefore, the incidence of thyroid nodules is high in endemic goiter regions due to iodine deficiency. This paper has described many of the factors causing this higher incidence. Of note, metabolic syndrome and insulin resistance are important factors associated with the increased incidence of nodular goiter and papillary thyroid cancer today. However, these data must be confirmed by other studies in the future.

Therapeutic plasma exchange in hypertriglyceridemic patients

Background/aim: High triglyceride (TG) levels are associated with increases in atherosclerotic cardiovascular disease (CVD), hepatic steatosis, and pancreatitis. Acute pancreatitis is a condition with high mortality. Therapeutic plasma exchange (TPE) in the treatment of hypertriglyceridemic pancreatitis (HTGP) is a rapid and effective treatment modality. In this study, the results of TPE were evaluated and the frequency of lipoprotein lipase (LPL) mutation in these patients was determined. Materials and methods: TPE was performed in 31 patients with HTGP at the Adult Therapeutic Apheresis Center. Results: A TG level under 500 mg/dL was achieved by applying apheresis at a median of 2 times (IQR 2­2, min 1, max 6) in the 31 cases. LPL mutation was detected in 8 (25.8%) of the 31 hypertriglyceridemia cases. When TG levels before and after TPE were evaluated, the mean TG level before TPE was significantly higher (3132 ± 1472 mg/dL) than the mean TG level afterwards (948 ± 465 mg/dL, P < 0.001). This result represented a decrease of 69.7% TG after TPE. Conclusion: TPE is a safe, fast, and effective treatment modality in experienced centers.

Levothyroxine absorption test results in patients with TSH elevation resistant to treatment.

INTRODUCTION: Persistent elevation of thyroid-stimulating hormone (TSH) is common in endocrinology practice in patients undergoing replacement or suppression therapy with levothyroxine sodium (LT4). After examining the causes of this condition, LT4 absorption test is recommended. In this report, we wanted to share our results of LT4 absorption test in patients with elevated TSH levels. MATERIALS-METHODS: The files of patients who presented to our clinic between 2015 and 2018, whose TSH elevation continued despite high-dose LT4 therapy, and who underwent absorption test were reviewed retrospectively. RESULTS: Levothyroxine sodium absorption test was applied to five patients. Absorption test revealed LT4 malabsorption in two patients and pseudomalabsorption in the other three patients. DISCUSSION: When all published pseudomalabsorption cases were considered, it has been stated that at least 2.5 times increase in basal fT4 level may exclude malabsorption. The formula we used has been implemented by Cleveland Clinic since 2014. CONCLUSION: In cases where TSH normalization is not achieved despite high doses of LT4 therapy, LT4 absorption test is an easy test for administration and interpretation and prevents unnecessary medical treatments and examinations.

A neglected causative agent in diabetic foot infection: a retrospective evaluation of 13 patients with fungal etiology

Background/aim: Clinicians often neglect fungal infections and do not routinely investigate deep tissue from the wound for fungal culture and sensitivity due to insufficient information in the literature. In this study, we aimed to evaluate fungal etiology of invasive fungal diabetic foot which is rarely reported in the literature. Materials and methods: The patients who were unresponsive to antibiotic therapy and those with positive fungal in bone or deep tissue culture were enrolled in the study. Detailed hospital records were retrieved for demographics and clinical features. Results: A total of 13 patients who were diagnosed with invasive fungal diabetic foot (ten females, three males, mean age 59.8 ± 9 years) were included. All of the patients had type-2 diabetes mellitus. Eleven (84.6%) patients had mixed infection. The most common cause of fungal infections of diabetic foot ulcers was the Candida species. Ten (76.9%) patients underwent amputation, two (15.4%) patients refused amputation, and one patient died before surgery. Conclusion: Invasive fungal infections may also be a causative pathogen in deep tissue infections. Therefore, fungal pathogens should be considered in patients unresponsive to long-term antibiotic therapy. Early detection of fungal infections in high-risk individuals is critical for the prevention of severe consequences such as foot amputation.

Plasma Levels of Antioxidant Vitamins in Patients with Acromegaly: A Case-Control Study.

OBJECTIVE: The aim of this study was to compare antioxidant vitamin C and vitamin E levels in the non-acromegaly control group and in patients with acromegaly with and without remission. MATERIAL AND METHODS: In this study, 100 cases, acromegaly patients of 57% (n=57, 29F, 28M, mean ages of 49.5±12.1) and control subjects of 43% (n=43, 29F, 14M, mean ages of 49.6±9.2). Acromegaly patients were classified into two groups; active acromegaly (AA; n=33) and controlled acromegaly (CA; n=24). RESULTS: Vitamin C levels were significantly lower in the acromegaly group [7.6 (4.7) mg/L, as median (IQR)] when compared to the control group [12.2 (5.5) mg/L, as median (IQR)] (p <0.001). Vitamin E levels didn't show a significant difference between the acromegaly and the control groups (14.2±3.6 vs. 14.8±3.7, as mean±SD, respectively, p = 0.439). Correlation analysis showed that vitamin C levels were not significantly associated with clinical, anthropometric and laboratory parameters in the acromegaly group. Vitamin E levels were significantly associated with the total cholesterol, triglyceride, LDL-C, HDL-C, APO A1, APO B both in the acromegaly and the control groups. CONCLUSION: This study is the first one to investigate the relationship between the levels of vitamin C & E and anthropometric & metabolic parameters in acromegaly patients and control group. In our study, vitamin C level was significantly lower in the acromegaly group compared to the level in the control group. There was no significant difference in vitamin E levels between the acromegaly and control group.

Hand infection in patients with diabetes: a series of 17 cases and a pooled analysis of the literature

Background/aim: The aim of this study was to report the clinical characteristics and the treatment outcomes of hand infections in diabetic patients and to review the literature. Materials and methods: The medical records of 17 patients with diabetic hand infections admitted to the Diabetic Foot Care Center of two different clinics from January 2012 to October 2017 were reviewed. To perform the pooled analysis, published series (32 studies) were searched in two international databases (www.scopus.com and www.pubmed.com). Results: Of the 17 patients (mean age 61.7 ± 8.5 years), 8 (47.1%) were female. All cases were type 2 diabetes mellitus. The mean duration of diabetes was 9.0 ± 5.96 years and the mean HbA1c was 7.86 ± 1.88%. There was necrosis in 8 patients (47.1%). The most common causes were injury during saw and hammer use in 5 patients (29.4%) and injury due to inappropriate nail cutting in 3 patients (17.6 %). Nine (52.9%) patients were operated on. No patients underwent any major amputations or died. In 32 publications, 704 patients with diabetic hand infections were found. The average age was 53.43 years (n = 591) and 84.29% of patients (322/382) were found to have type 2 DM. The mean duration of diabetes was 4.12 years (n = 317) and the mean HbA1c was 10.58% (n = 140). The rate of surgical operation was 74.59% (323/433). Conclusion: Diabetic hand injuries often occur when using hand tools such as hammers, saws, and knives, and when cutting nails. It is necessary to use conservative treatment rather than amputation. These patients should consult experienced health care professionals.

Glucagon like peptide-1 (GLP-1) likes Alzheimer's disease.

Glucagon-like peptide-1 (GLP-1) is a 30 amino acid long peptide hormone derived from the proglucagon gene and secreted in the distal small intestine when food enters the duodenum. GLP-1 is also produced in the central nervous system (CNS), predominantly in the brainstem, and subsequently transported to a large number of regions in the CNS. Neuronal cells in nucleus tractus solitarius (NTS) can synthesize GLP-1 and extends to hypothalamus, some thalamic and cortical areas. A G protein coupled receptor (GPCR) provides the majority of GLP-1 actions. GLP-1 receptor activation triggers some in vivo signaling pathways. GLP-1 receptor agonists (GLP-1 RA) are used in the treatment diabetes and obesity. GLP-1 stimulates insulin secretion, inhibits glucagon secretion, decreases food intake, reduces appetite, delays gastric emptying, provides weight reduction, and protects ß cells from apoptosis. Alzheimer's disease (AD) is the most prevalent form of dementia. It is characterized by cognitive insufficiencies and behavioral changes that impact memory and learning abilities, daily functioning and quality of life. Hyperinsulinemia and insulin resistance, which are known as pathophysiological features of the T2DM, have also been demonstrated to have significant impact on cognitive impairment. It is thought that GLP-1 affects neurological and cognitive functions, as well as its regulatory effect on glucose metabolism. The pathophysiological relationship between GLP-1 and AD is discussed in this review.

Evaluation of bone mineral density and related parameters in patients with haemophilia: a single center cross-sectional study.

Haemophilia has been associated with low bone mineral density (BMD) probably due to some predisposing factors. The aim of this study was to evaluate the relationship between BMD and potential clinical predictors in adult haemophilic patients. Fortynine patients with moderate and severe haemophilia were enrolled. BMD was measured by Dual Energy X-Ray Absorptiometry (DXA) and blood tests were performed for vitamin D, calcium, phosphore, alkaline phosphatase and parathormone levels. Functional Independence Score in Haemophilia (FISH) and Haemophilia Joint Health Score (HJHS) were used to assess musculoskeletal functions. Body mass index (BMI), Hepatitis C virus (HCV)/Human immunodeficiency virus (HIV) seropositivity and smoking status were also recorded. BMD was found lower than expected for reference age in 34.8% of patients of less than 50 years old. In patients older than 50 years, 66.6% of them had osteoporosis and 33.3% of them had normal BMD. FISH score was statistically significant correlated with BMD of total hip (TH) and femur neck (FN) but not with lumbar spine (LS). In eligible patients, there was also a statistically significant correlation between BMD of TH and HJHS. Vitamine D deficiency was common and found in 77.5% of patients, although there was no significant correlation with BMD. Also no correlation was found between BMD and blood tests, HCV/HIV status, BMI and smoking. This study confirmed that patients with haemophilia have an increased prevelance of low BMD even in younger group. Our results showed that there are significant correlations between FISH score and BMD of TH and FN and also between HJHS score and BMD of TH. Thus, using scoring systems may be beneficial as a simple predictors of BMD to reflect the severity of haemophilic arthropathy.

Obstructive sleep apnea characteristics in patients with well-controlled acromegaly and their compliance with positive airway pressure therapy

Background/aim: Acromegaly is often associated with obstructive sleep apnea syndrome (OSAS) with a frequency between 40% and 80%. The aim of the present study was to evaluate the clinical and polysomnographic characteristics of acromegaly patients with sleep apnea symptoms and to identify positive airway pressure (PAP) adherence in acromegaly patients with OSAS diagnosis.Materials and methods: Twenty-eight well-controlled acromegaly patients (17 males, mean age 48.7 ± 10.1 years) with sleep apnea symptoms were included in this prospective study. Demographic data, anthropometric measurements, and medical history were evaluated. Full-night in-laboratory polysomnography was performed.Results: Polysomnography results showed that 25 patients (89.3%) had OSAS with a mean apnea-hypopnea index (AHI) of 37.7 ± 28.8/h. All 17 male patients were diagnosed with OSAS, whereas 8 female patients (72.7%) had OSAS (P = 0.05). Male patients also had more severe OSAS than females (AHI 48.3 ± 29.0 vs. 21.3 ± 20.1 events/h, respectively; P = 0.012). Twenty-two patients out of 28 were considered to be eligible candidates for PAP therapy. The PAP adherence rate was found to be 50% during follow-up. Conclusion: Our results confirm OSAS as a common disorder in acromegaly patients as well as PAP therapy being required for a majority of patients. Therefore, all acromegaly patients should be assessed in terms of OSAS and be followed closely for the evaluation of PAP adherence.

Intralesional epidermal growth factor therapy fordiabetic foot ulcers: an evaluation of 15 cases

Background/aim: Intralesional recombinant epidermal growth factor (EGF) is a new treatment approach for diabetic foot ulcer, approved in 2006. EGF therapy is given as an adjunct to the standard treatment regimen of antibiotics, surgery, and hyperbaric oxygen. EGF accelerates the healing of diabetic foot ulcers and reduces healing time. This single-center study was conducted to evaluate the outcomes of intralesional EGF therapy in patients with diabetic foot ulcers.Materials and methods: We present the data of the follow-up patients treated in our clinics. Fifteen patients with diabetic foot ulcers or infections, who had been followed up and treated in our clinics, were included in this retrospective study. All patients were administered intralesional injections of 75 µg of EGF after treatment for infection on their diabetic foot ulcers, three times a week on alternate days. The patients were monitored with respect to treatment response and side effects of EGF.Results: Thirteen patients (86.7%) developed new granulation tissue, 10 patients (66.7%) had complete wound closure, and three patients (20%) showed partial wound closure. No serious side effects requiring discontinuation of EGF therapy were observed. A total of twenty-one bacterial agents were isolated in thirteen patients, and no bacterial growth was observed in the tissue cultures of two patients. Pseudomonas aeruginosa was the most common isolated infectious agent in the tissue cultures (n: 6, 28%). Conclusion: Intralesional injection of EGF on top of the standard treatment regimen appears to be a useful adjuvant therapy option in selected patients.

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.

PURPOSE: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION: Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.