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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., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

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., (© 2023 The Authors. International Wound Journal published by Medicalhelplines.com Inc and John Wiley & Sons Ltd.)

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 (HBO 2 ) 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 HBO 2 therapy, pooled data from different protocols may be misleading. Further studies focused on side effects with specific indications are necessary., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2023 Arman Vahabi et al.)

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.

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 2–2, 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., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

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.

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.

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.

Unlabelled: Both leukocytoclastic vasculitis and metastatic pulmonary calcification are conditions that rarely occur during the course of multiple myeloma. We present a multiple myeloma patient that had severe dyspnea due to metastatic pulmonary calcinosis, and ulceronecrotic skin lesions caused by leukocytoclastic vasculitis. After 3 courses of standarddose chemotherapy all skin and pulmonary lesions disappeared. Autologous peripheral stem cell transplantation was performed and during 1 year of follow-up the patient was in complete remission; after 1 year, laboratory test results indicated disease relapse. Although the patient was treated with bortezomib and dexamethasone, the disease progressed. Non-myeloablative allogeneic stem cell transplantation was performed, but despite of all treatment the patient died due to disease progression., Conflict of Interest: None declared.