Renal complications of lipodystrophy: A closer look at the natural history of kidney disease.

OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multicentre study, prospective follow-up data were collected from 103 subjects with non-HIV-associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR). Kidney volume was measured. Percutaneous renal biopsies were performed in 9 patients. RESULTS: Seventeen of 37 patients with generalized and 29 of 66 patients with partial lipodystrophy had CKD characterized by proteinuria, of those 12 progressed to renal failure subsequently. The onset of renal complications was significantly earlier in patients with generalized lipodystrophy. Patients with CKD were older and more insulin resistant and had worse metabolic control. Increased kidney volume was associated with poor metabolic control and suppressed leptin levels. Renal biopsies revealed thickening of glomerular basal membranes, mesangial matrix abnormalities, podocyte injury, focal segmental sclerosis, ischaemic changes and tubular abnormalities at various levels. Lipid vacuoles were visualized in electron microscopy images. CONCLUSIONS: CKD is conspicuously frequent in patients with lipodystrophy which has an early onset. Renal involvement appears multifactorial. While poorly controlled diabetes caused by severe insulin resistance may drive the disease in some cases, inherent underlying genetic defects may also lead to cell autonomous mechanisms contributory to the pathogenesis of kidney disease.

Effect of thyroid dysfunction and autoimmunity on pregnancy outcomes in low risk population.

PURPOSE: The objective of this study was to assess the effect of thyroid dysfunction and autoimmunity in early pregnancy on adverse pregnancy and neonatal outcome. METHODS: 497 pregnant women between 10 and 12 gestational age were invited who were attending for their first antenatal visit and asked to perform blood tests for thyroid function and antithyroid peroxidase antibodies. A total of 395 women were recruited in the present study. Cases were classified into four groups according to thyroid function and anti-TPO results. The pregnancy outcomes included gestational diabetes mellitus, preeclampsia, preterm delivery, cesarean rate, small for gestational age, low birth weight. RESULTS: 2.5-(OR 2.5, 95% CI 1.06-5.89) and 4.8-(OR 4.85, 95% CI 1.89-12.42) fold increase in preterm delivery was detected in groups with isolated anti-TPO positivity and subclinic hypothyroidism with anti-TPO positivity compared to reference group, respectively. No association was found between thyroid dysfunction and anti-TPO positivity with gestational diabetes, preeclampsia, cesarean rates, low birth weight and small for gestational age neonates. CONCLUSION: Pregnant women with anti-TPO antibody positivity alone or with subclinic hypothyroidism were more likely to experience a spontaneous preterm delivery.

Efficient integral equation-based analysis of finite periodic structures in the optical frequency range.

The optical response of dense finite arrays of nanoparticles can be efficiently analyzed with the help of macro basis functions obtained by employing the array scanning method. This is demonstrated by analyzing optical collimation in arrays of silver nanorods. The accuracy of the solution obtained with the proposed method has been validated by comparison with solutions obtained employing the Krylov subspace iterative method. The relative error in the electric field distribution on an observation plane above the finite array is of the order of -25 dB, while the number of unknowns is reduced by a factor of 32.

An evaluation of both serum Klotho/FGF-23 and apelin-13 for detection of diabetic nephropathy.

PURPOSE: The aim of our study is to evaluate whether serum Klotho/FGF-23 and apelin-13 can be used as new biomarkers for detection of development of nephropathy. METHODS: In this cross-sectional study, 88 type 2 diabetes mellitus (T2DM) patients and 38 healthy controls were included. The mean duration of T2DM was 11.4 ± 9.7 years. T2DM individuals were categorized into two groups as group 1 with e-GFR < 60 mL/min/1.73 m2 and group 2 with e-GFR > 60 mL/min/1.73 m2. They were also divided into two groups according to their 24 h urine albumin levels, classifying them as follows: normoalbuminuria if less than 30 mg/day and albuminuria if more than 30 mg/day. RESULTS: Mean serum Klotho levels in the T2DM group were observed to be significantly higher than in the control group. Serum apelin-13 levels were observed to be significantly lower in the T2DM group compared to the control group (p < 0.001). In the diabetic group, apelin-13 levels were positively correlated with age, waist circumference, and albuminuria while they were negatively correlated with e-GFR. Apelin-13 levels were seen to be significantly higher in group 1 (p < 0.001). CONCLUSION: Apelin-13 levels were found to be significantly higher in individuals with diabetic nephropathy than in those without diabetic nephropathy. In the diabetic group, a significant relationship was detected between apelin-13 levels and albumin excretion. Based on these findings, we consider that serum Klotho and apelin-13 levels may have a protective effect on diabetic nephropathy and can additionally be used as a biomarker to predict diabetic nephropathy.

Two challenging cases of pituicytoma.

INTRODUCTION: Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. CASE 2: A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 × 23 × 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 × 22 × 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy. DISCUSSION: Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely.

Clinical and demographic aspects of Paget disease of bone: A multicentric study from Turkey.

OBJECTIVE: Paget disease of bone (PDB) is a metabolic bone disease that has been rarely reported in the Eastern countries. This study aimed to evaluate the clinical and demographic characteristics of patients with PDB followed up at endocrinology clinics in Turkey. METHODS: An invitation was sent to tertiary endocrinology clinics to complete a survey on the demographic, clinical, radiological, and laboratory parameters, as well as treatment modalities of patients with PDB. This study enrolled clinically and radiologically proven 185 patients with PDB from 18 endocrinology centers based in 10 cities of Turkey. RESULTS: This cohort of PDB had female preponderance (women/men: 105/80) with a mean age, during diagnosis, of 57±10 years. Most of the patients (59.6%) were symptomatic at diagnosis. Bone pain and headache were the predominant clinical symptoms. Polyostotic disease was observed in 67.5% (n=125) of patients. Frequently affected bones were skull (41.6%), pelvis (53.5%), spine (41%), and femur (25.4%). Moreover, 17 patients with skull involvement had hearing loss. Mean serum alkaline phosphatase (ALP) level (552±652 IU/L; range: 280-5762 IU/L) was over the normal reference cutoff with normal serum calcium levels. Intravenous bisphosphonates (zoledronic acid, 5 mg; pamidronate, 60-90 mg) were the most used drugs (75%) for the treatment of PDB. Most of the patients (87.1%) treated with intravenous bisphosphonates responded well, with a decrease in serum ALP level (117±114 IU/L) in the 12th month of therapy. Furthermore, 16 patients relapsed after the second year of therapy; 3 patients did not respond to the initial intravenous bisphosphonate treatment. CONCLUSION: The patients with PDB followed up by endocrinology clinics of Turkey exhibited polyostotic disease with classical clinical, radiological, and biochemical features and women's predominance with good response to intravenous bisphosphonate therapy.

Biochemical characteristics and calcium and PTH levels of patients with high normal and elevated serum 25(OH)D levels in Turkey: DeVIT-TOX survey.

Vitamin D intake over the recommended dose is usually associated with high serum 25(OH)D levels and generally not associated with symptoms of hypercalcemia. High doses of cholecalciferol need to be avoided to protect against vitamin D toxicity and related complications. Strict adherence to the clinical guidelines for treating vitamin D deficiency can ensure safe and effective treatment. PURPOSE: We observed a tendency to use high doses of cholecalciferol for vitamin D deficiency treatment or vitamin D supplementation. We aimed to determine the biochemical characteristics of patients with high normal and elevated serum 25(OH)D levels. METHODS: An online invitation was sent to all tertiary endocrinology clinics in Turkey to complete an online retrospective survey (DeVIT-TOX Survey) for patients diagnosed with high serum 25(OH)D levels (> 88 ng/mL) between January 2019 and December 2019. The patients were evaluated according to the presence of signs and symptoms of hypercalcemia and doses of vitamin D intake, evaluated into the following three groups according to their 25(OH)D levels: group 1, > 150 ng/mL; group 2, 149-100 ng/mL; and group 3, 99-88 ng/mL. RESULTS: A total of 253 patients were included in the final analysis (female/male: 215/38; mean age, 51.5 ± 15.6 years). The average serum 25(OH)D level was 119.9 ± 33 (range, 88-455) ng/mL, and the average serum calcium level was 9.8 ± 0.7 (range, 8.1-13.1) mg/dL. Most (n = 201; 75.4%) patients were asymptomatic despite having high serum 25(OH)D and calcium levels. The serum 25(OH)D level was significantly higher in the symptomatic groups than in the asymptomatic groups (138.6 ± 64 ng/mL vs. 117.7 ± 31 ng/mL, p < 0.05). The most common cause (73.5%) associated with high serum 25(OH)D levels was the inappropriate prescription of a high dose of oral vitamin D (600.000-1.500.000 IU) for treating vitamin D deficiency/insufficiency in a short time (1-3 months). The cut-off value of 25 (OH) D level in patients with hypercalcemia was found to be 89 ng/mL [median 116.5 (89-216)]. CONCLUSIONS: High dose of vitamin D intake is associated with a high serum 25 OH D level, without symptoms of hypercalcemia. Inappropriate prescription of vitamin D is the primary cause for elevated 25(OH) D levels and related hypercalcemia. Hypercalcemia may not be observed in every patient at very high 25(OH) D levels. Adherence to the recommendation of guidelines is essential to ensure safe and effective treatment of vitamin D deficiency.

Contrast Enhanced [99mTc] MIBI SPECT/CT in Primary Hyperparathyroidism.

OBJECTIVE: The aim of the present study was to compare the surgical results with contrast-enhanced [99mTc]methoxyisobutylisonitrile ([99mTc]MIBI) single-photon emission computed tomography (SPECT)/computed tomography (CT) results by adding the simultaneous single phase contrast to the [99mTc]MIBI SPECT/CT examination. METHOD: Between November 2016 and January 2018, 24 (21 female, 3 male) patients who underwent an operation after preoperative contrast-enhanced [99mTc]MIBI SPECT/CT, and 49 asymptomatic patients (42 female, 7 male), who did not undergo surgery, were included in the study. RESULTS: Sensitivity and specificity rates of contrast enhanced [99mTc]MIBI SPECT/CT were 100% and 100% when evaluated together with surgical results. The rate of detection in asymptomatic patients was found to be 93.8%. CONCLUSIONS: With the contrast-enhanced [99mTc]MIBI SPECT/CT imaging, both high sensitivity and specificity values were achieved in the preoperative localization of parathyroid adenomas (PTAs) and high detection rates were obtained in the asymptomatic group. The use of contrast IV during the [99mTc]MIBI SPECT/CT in patients without contraindications increased both preoperative localization rates of adenomas and detection rates of asymptomatic hyperparathyroidism cases. KEY WORDS: Parathyroid adenoma, Primary Hyperparathyroidism, [99mTc]MIBI, SPECT/CT.

Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.

OBJECTIVE: Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. METHODS: This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. RESULTS: Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Q variant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. CONCLUSION: We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity.

Term babies with delayed cord clamping: an approach in preventing anemia (.).

OBJECTIVE: We investigated the effects of delayed and early clamping of the cord on the hematologic status of the baby at birth and at the end of second month. METHODS: Umbilical cord of 74 babies were clamped in the first 30 s (Group 1) and 76 were clamped at 90-120 s (Group 2). Levels of hemoglobin, hematocrit, iron and ferritin were analyzed from the umbilical cord blood at birth and from the venous samples at the end of second month. RESULTS: Hemoglobin, hematocrit, iron and ferritin levels of cord blood were similar in both groups. However, their levels other than ferritin were higher in Group 2 at the end of second month. Two babies had respiratory distress and twelve neonates received phototherapy in Group 2 whereas only five neonates received phototherapy in Group 1. CONCLUSION: Term babies to whom delayed cord clamping was performed had improved hematological parameters at the end of second month. Therefore, delaying cord clamping in these babies may be a favorible approach in preventing anemia.

Patient specific seizure prediction system using Hilbert spectrum and Bayesian networks classifiers.

The aim of this paper is to develop an automated system for epileptic seizure prediction from intracranial EEG signals based on Hilbert-Huang transform (HHT) and Bayesian classifiers. Proposed system includes decomposition of the signals into intrinsic mode functions for obtaining features and use of Bayesian networks with correlation based feature selection for binary classification of preictal and interictal recordings. The system was trained and tested on Freiburg EEG database. 58 hours of preictal data, 40-minute data blocks prior to each of 87 seizures collected from 21 patients, and 503.1 hours of interictal data were examined resulting in 96.55% sensitivity with 0.21 false alarms per hour, 13.896% average proportion of time spent in warning, and 33.21 minutes of average detection latency using 30-second EEG segments with 50% overlap and a simple postprocessing technique resulting in a decision (a seizure is expected/not expected) every 5 minutes. High sensitivity and low false positive rate with reasonable detection latency show that HHT based features are acceptable for patient specific seizure prediction from intracranial EEG data. Time spent for testing an EEG segment was 4.1451 seconds on average, which makes the system viable for use in real-time seizure control systems.