International Journal of Endocrinology and Metabolism International Journal of Endocrinology and Metabolism Int J Endocrinol Metab http://www.endometabol.com 1726-913X 1726-9148 10.5812/ijem en jalali 2017 6 24 gregorian 2017 6 24 14 4
en 10.5812/ijem.41110 Obituary: Peter Laurberg Obituary: Peter Laurberg obituary obituary http://www.endometabol.com/index.php?page=article&article_id=41110 Helmut Schatz Helmut Schatz Member of the Executive Board of the German Endocrine Society, Bochum, Germany; Member of the Executive Board of the German Endocrine Society, Bochum, Germany. Tel: +49 234302 6324 Member of the Executive Board of the German Endocrine Society, Bochum, Germany; Member of the Executive Board of the German Endocrine Society, Bochum, Germany. Tel: +49 234302 6324
en 28144252 10.5812/ijem.42228 Endocrinology Is Fascinating Endocrinology Is Fascinating editorial editorial http://www.endometabol.com/index.php?page=article&article_id=42228 Fereidoun Azizi Fereidoun Azizi Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran. Tel: +98-2122409309, Fax: +98-2122402463 Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran. Tel: +98-2122409309, Fax: +98-2122402463
en 28123436 10.5812/ijem.36727 Review of the Mechanisms and Effects of Noninvasive Body Contouring Devices on Cellulite and Subcutaneous Fat Review of the Mechanisms and Effects of Noninvasive Body Contouring Devices on Cellulite and Subcutaneous Fat review-article review-article Conclusions

Some of the noninvasive body contouring devices in animal and human studies such as cryolipolysis, RF, LLLT and HIFU showed statistical significant effects on body contouring, removing unwanted fat and cellulite in some body areas. However, the clinical effects are mild to moderate, for example 2 - 4 cm circumference reduction as a sign of subcutaneous fat reduction during total treatment sessions. Overall, there is no definitive noninvasive treatment method for cellulite. Additionally, due to the methodological differences in the existing evidence, comparing the techniques is difficult.

Results

We included seven reviews and 66 original articles in the present narrative review. Most of them were applied on normal weight or overweight participants (body mass index < 30 kg/m2) in both genders with broad range of ages (18 to 50 years on average). In the original articles, the numbers of included methods were: 10 HIFU, 13 RF, 22 cryolipolysis, 11 LLLT, 5 ESWT and 4 WBV therapies. Six of the articles evaluated combination therapies and seven compared the effects of different devices.

Evidence Acquisition

We searched pubmed, google scholar and the cochrane databases for systemic reviews, review articles, meta-analysis and randomized clinical trials up to February 2015. The keywords were subcutaneous fat, cellulite, obesity, noninvasive body contouring, cryolipolysis, RF, LLLT, HIFU, ESWT and WBV with full names and abbreviations.

Context

Today, different kinds of non-invasive body contouring modalities, including cryolipolysis, radiofrequency (RF), low-level laser therapy (LLLT), and high-intensity focused ultrasound (HIFU) are available for reducing the volume of subcutaneous adipose tissue or cellulite. Each procedure has distinct mechanisms for stimulating apoptosis or necrosis adipose tissue. In addition to the mentioned techniques, some investigations are underway for analyzing the efficacy of other techniques such as whole body vibration (WBV) and extracorporeal shockwave therapy (ESWT). In the present review the mechanisms, effects and side effects of the mentioned methods have been discussed. The effect of these devices on cellulite or subcutaneous fat reduction has been assessed.

Conclusions

Some of the noninvasive body contouring devices in animal and human studies such as cryolipolysis, RF, LLLT and HIFU showed statistical significant effects on body contouring, removing unwanted fat and cellulite in some body areas. However, the clinical effects are mild to moderate, for example 2 - 4 cm circumference reduction as a sign of subcutaneous fat reduction during total treatment sessions. Overall, there is no definitive noninvasive treatment method for cellulite. Additionally, due to the methodological differences in the existing evidence, comparing the techniques is difficult.

Results

We included seven reviews and 66 original articles in the present narrative review. Most of them were applied on normal weight or overweight participants (body mass index < 30 kg/m2) in both genders with broad range of ages (18 to 50 years on average). In the original articles, the numbers of included methods were: 10 HIFU, 13 RF, 22 cryolipolysis, 11 LLLT, 5 ESWT and 4 WBV therapies. Six of the articles evaluated combination therapies and seven compared the effects of different devices.

Evidence Acquisition

We searched pubmed, google scholar and the cochrane databases for systemic reviews, review articles, meta-analysis and randomized clinical trials up to February 2015. The keywords were subcutaneous fat, cellulite, obesity, noninvasive body contouring, cryolipolysis, RF, LLLT, HIFU, ESWT and WBV with full names and abbreviations.

Context

Today, different kinds of non-invasive body contouring modalities, including cryolipolysis, radiofrequency (RF), low-level laser therapy (LLLT), and high-intensity focused ultrasound (HIFU) are available for reducing the volume of subcutaneous adipose tissue or cellulite. Each procedure has distinct mechanisms for stimulating apoptosis or necrosis adipose tissue. In addition to the mentioned techniques, some investigations are underway for analyzing the efficacy of other techniques such as whole body vibration (WBV) and extracorporeal shockwave therapy (ESWT). In the present review the mechanisms, effects and side effects of the mentioned methods have been discussed. The effect of these devices on cellulite or subcutaneous fat reduction has been assessed.

Body Contouring;Subcutaneous Fat;Cellulite Body Contouring;Subcutaneous Fat;Cellulite http://www.endometabol.com/index.php?page=article&article_id=36727 Zahra Alizadeh Zahra Alizadeh Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Farzin Halabchi Farzin Halabchi Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Reza Mazaheri Reza Mazaheri Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; Department of Sports and Exercise Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Maryam Abolhasani Maryam Abolhasani Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; No. 7, Ale-ahmad HWY, P. O. Box: 14395578, Tehran, IR Iran. Tel: +98-21886302278, Fax: +98-2188003539 Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran; No. 7, Ale-ahmad HWY, P. O. Box: 14395578, Tehran, IR Iran. Tel: +98-21886302278, Fax: +98-2188003539 Mastaneh Tabesh Mastaneh Tabesh Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IR Iran
en 28123434 10.5812/ijem.30324 Asymmetric Dimethylarginin (ADMA) as a Marker of Endothelial Dysfunction in Primary Aldosteronism Asymmetric Dimethylarginin (ADMA) as a Marker of Endothelial Dysfunction in Primary Aldosteronism research-article research-article Conclusions

The lack of difference between ADMA levels in patients with PA and EH suggests that endothelial dysfunction is more likely related to hypertension per se than to the specific etiology of elevated blood pressure.

Results

Patients with PA had significantly higher concentrations of ADMA than healthy controls (0.488 ± 0.085 vs. 0.433 ± 0.053 μmol/L, P = 0.027). No difference was found in ADMA levels between cases with PA and EH (0.488 ± 0.085 vs. 0.476 ± 0.075 μmol/L, р = 0.636). The difference between patients with EH and normotensive controls did not reach statistical significance (P = 0.06).

Background

Recent studies have revealed a higher rate of cardiovascular complications in primary aldosteronism (PA) compared to patients with essential hypertension (EH). Asymmetric dimethylarginine (ADMA) is a marker of endothelial dysfunction that could contribute to increased cardiovascular risk in patients with PA.

Objectives

The aim of this study was to compare the levels of ADMA among patients with PA, controls with EH and healthy participants. Methods: Serum ADMA levels were determined, using commercially available competitive enzyme-linked immunosorbent assay.

Methods

Serum ADMA levels were determined, using commercially available competitive enzyme-linked immunosorbent assay.

Conclusions

The lack of difference between ADMA levels in patients with PA and EH suggests that endothelial dysfunction is more likely related to hypertension per se than to the specific etiology of elevated blood pressure.

Results

Patients with PA had significantly higher concentrations of ADMA than healthy controls (0.488 ± 0.085 vs. 0.433 ± 0.053 μmol/L, P = 0.027). No difference was found in ADMA levels between cases with PA and EH (0.488 ± 0.085 vs. 0.476 ± 0.075 μmol/L, р = 0.636). The difference between patients with EH and normotensive controls did not reach statistical significance (P = 0.06).

Background

Recent studies have revealed a higher rate of cardiovascular complications in primary aldosteronism (PA) compared to patients with essential hypertension (EH). Asymmetric dimethylarginine (ADMA) is a marker of endothelial dysfunction that could contribute to increased cardiovascular risk in patients with PA.

Objectives

The aim of this study was to compare the levels of ADMA among patients with PA, controls with EH and healthy participants. Methods: Serum ADMA levels were determined, using commercially available competitive enzyme-linked immunosorbent assay.

Methods

Serum ADMA levels were determined, using commercially available competitive enzyme-linked immunosorbent assay.

Primary Aldosteronism;Asymmetric Dimethylarginine;Hypertension;Endothelial Dysfunction Primary Aldosteronism;Asymmetric Dimethylarginine;Hypertension;Endothelial Dysfunction http://www.endometabol.com/index.php?page=article&article_id=30324 Joanna Matrozova Joanna Matrozova Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Vladimir Vasilev Vladimir Vasilev Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Silvia Vandeva Silvia Vandeva Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Atanaska Elenkova Atanaska Elenkova Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Georgi Kirilov Georgi Kirilov Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria Sabina Zaharieva Sabina Zaharieva Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria; Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria. Tel: +35-9888930953 Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria; Clinical Centre of Endocrinology, Medical University-Sofia, Zdrave 2 St, Sofia, Bulgaria. Tel: +35-9888930953
en 28123435 10.5812/ijem.36511 Transforming Growth Factor β1 (TGF-β1) in the Sera of Postmenopausal Osteoporotic Females Transforming Growth Factor β1 (TGF-β1) in the Sera of Postmenopausal Osteoporotic Females research-article research-article Conclusions

Our study demonstrated that TGF-β1 serum levels is higher in osteoporotic postmenopausal females than non-osteoporotic ones, and probably aberrant increase in TGF-β1 in postmenopausal females can result in uncoupled bone resorption and formation, which leads to osteoporosis.

Background

Postmenopausal osteoporosis is a major cause of morbidity in postmenopausal females. Transforming growth factor β1 (TGF-β1) and interleukin 18 (IL-18) play complex roles in normal bone metabolism, and in pathophysiology of postmenopausal osteoporosis.

Objectives

The aim of this study was to design an analytic cross sectional study in order to further clarify the role of TGF-β1 and IL-18 in osteoporosis of postmenopausal females.

Methods

A cross sectional study including 65 postmenopausal osteoporotic females as cases and 69 postmenopausal females of similar age without osteoporosis as controls was conducted. Dual energy X-ray absorptiometry (DXA) was used to determine bone mass density (BMD) of participants and T-scoring was applied to establish whether the patient has osteoporosis or not. Serum TGF-β1 and IL-18 levels were measured by quantitative sandwich Enzyme linked immunosorbent assay (ELISA).

Results

Serum TGF-β1 levels were significantly higher in osteoporotic postmenopausal females than non-osteoporotic individuals (23.8 vs. 15.8 ng/mL; P = 0.009). There was no difference between IL-18 levels in the sera of osteoporotic and non-osteoporotic postmenopausal females in this study. There was a positive correlation between body mass index (BMI) and serum level of TGF-β1 (P = 0.04).

Conclusions

Our study demonstrated that TGF-β1 serum levels is higher in osteoporotic postmenopausal females than non-osteoporotic ones, and probably aberrant increase in TGF-β1 in postmenopausal females can result in uncoupled bone resorption and formation, which leads to osteoporosis.

Background

Postmenopausal osteoporosis is a major cause of morbidity in postmenopausal females. Transforming growth factor β1 (TGF-β1) and interleukin 18 (IL-18) play complex roles in normal bone metabolism, and in pathophysiology of postmenopausal osteoporosis.

Objectives

The aim of this study was to design an analytic cross sectional study in order to further clarify the role of TGF-β1 and IL-18 in osteoporosis of postmenopausal females.

Methods

A cross sectional study including 65 postmenopausal osteoporotic females as cases and 69 postmenopausal females of similar age without osteoporosis as controls was conducted. Dual energy X-ray absorptiometry (DXA) was used to determine bone mass density (BMD) of participants and T-scoring was applied to establish whether the patient has osteoporosis or not. Serum TGF-β1 and IL-18 levels were measured by quantitative sandwich Enzyme linked immunosorbent assay (ELISA).

Results

Serum TGF-β1 levels were significantly higher in osteoporotic postmenopausal females than non-osteoporotic individuals (23.8 vs. 15.8 ng/mL; P = 0.009). There was no difference between IL-18 levels in the sera of osteoporotic and non-osteoporotic postmenopausal females in this study. There was a positive correlation between body mass index (BMI) and serum level of TGF-β1 (P = 0.04).

TGF-β1;IL-18;Osteoporosis, Postmenopausal TGF-β1;IL-18;Osteoporosis, Postmenopausal http://www.endometabol.com/index.php?page=article&article_id=36511 Aazam Faraji Aazam Faraji Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran Shabnam Abtahi Shabnam Abtahi Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran Abbas Ghaderi Abbas Ghaderi Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran Alamtaj Samsami Dehaghani Alamtaj Samsami Dehaghani Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran; Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran; Department of Obstetrics and Gynecology, School of Medicine, Shiraz, Iran
en 28144251 10.5812/ijem.38256 Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran research-article research-article Background

Primary congenital hypothyroidism (CH) is the most common treatable cause of mental retardation and can be classified into permanent and transient types. The purpose of this study was to determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Hamadan, West province of Iran.

Methods

The study population included all cases with primary congenital hypothyroidism, which were confirmed by thyroid function tests (TSH levels ≥ 10 mIU/L). All these patients had been followed up at the outpatient pediatric endocrine clinic of Besat hospital (Hamadan, Iran) for a period of time between May 2006 and March 2013. Biochemical findings at diagnosis and detailed medical records were collected. Patients were considered as permanent hypothyroidism if their TSH level was 10 (mIU/l) during 6 - 12 months of treatment. Also three years old patients with TSH level > 10 mU/L during one or three months after discontinuation of levothyroxine treatment were considered as permanent hypothyroidism.

Results

A total of 164 children (49.9% male and 50.6% female) diagnosed with CH completed the study. Female/male ratio was 1.02/1. The incidence of CH was about 1/1250 in Hamadan, West province of Iran. Of the 164 patients, 105 cases (64 %) were diagnosed as permanent CH and other 59 cases (36%) were proven to have transient hypothyroidism. Female to male ratio was 1.14 in patients suffering from permanent CH and 0.8 in patients with transient CH. The initial TSH level was found to be significantly higher in cases with permanent CH compared to the patients with transient CH (P = 0.001). Mean TSH level during the first year of treatment was higher in permanent CH cases compared to transient cases (P = 0.001). Children with transient CH had a lower TSH serum level during the three years of treatment (P = 0.000). A significant statistical difference was not found between the genders and permanent or transient CH (P = 0.352). Co-occurring congenital anomalies and birth order were significantly different between two groups (P = 0.028 and P = 0.024, respectively).

Conclusions

Our regional follow-up data showed that about 40% of newborns with primary CH had transient thyroid dysfunction. Our results further clarify our previous research by providing evidences on the incidence rate of CH. The incidence rates of CH as well as transient type of CH in our region were higher than those reported by other studies which have been conducted in other regions of the world. The initial TSH level was the strongest predictor of treatment cessation. Given the high incidence of transient CH in our region, further studies are needed to confirm the etiology and to provide considerable insight into preventive and/or the treatment strategies.

Background

Primary congenital hypothyroidism (CH) is the most common treatable cause of mental retardation and can be classified into permanent and transient types. The purpose of this study was to determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Hamadan, West province of Iran.

Methods

The study population included all cases with primary congenital hypothyroidism, which were confirmed by thyroid function tests (TSH levels ≥ 10 mIU/L). All these patients had been followed up at the outpatient pediatric endocrine clinic of Besat hospital (Hamadan, Iran) for a period of time between May 2006 and March 2013. Biochemical findings at diagnosis and detailed medical records were collected. Patients were considered as permanent hypothyroidism if their TSH level was 10 (mIU/l) during 6 - 12 months of treatment. Also three years old patients with TSH level > 10 mU/L during one or three months after discontinuation of levothyroxine treatment were considered as permanent hypothyroidism.

Results

A total of 164 children (49.9% male and 50.6% female) diagnosed with CH completed the study. Female/male ratio was 1.02/1. The incidence of CH was about 1/1250 in Hamadan, West province of Iran. Of the 164 patients, 105 cases (64 %) were diagnosed as permanent CH and other 59 cases (36%) were proven to have transient hypothyroidism. Female to male ratio was 1.14 in patients suffering from permanent CH and 0.8 in patients with transient CH. The initial TSH level was found to be significantly higher in cases with permanent CH compared to the patients with transient CH (P = 0.001). Mean TSH level during the first year of treatment was higher in permanent CH cases compared to transient cases (P = 0.001). Children with transient CH had a lower TSH serum level during the three years of treatment (P = 0.000). A significant statistical difference was not found between the genders and permanent or transient CH (P = 0.352). Co-occurring congenital anomalies and birth order were significantly different between two groups (P = 0.028 and P = 0.024, respectively).

Conclusions

Our regional follow-up data showed that about 40% of newborns with primary CH had transient thyroid dysfunction. Our results further clarify our previous research by providing evidences on the incidence rate of CH. The incidence rates of CH as well as transient type of CH in our region were higher than those reported by other studies which have been conducted in other regions of the world. The initial TSH level was the strongest predictor of treatment cessation. Given the high incidence of transient CH in our region, further studies are needed to confirm the etiology and to provide considerable insight into preventive and/or the treatment strategies.

Congenital Hypothyroidism;Permanent Hypothyroidism;Transient Hypothyroidism Congenital Hypothyroidism;Permanent Hypothyroidism;Transient Hypothyroidism http://www.endometabol.com/index.php?page=article&article_id=38256 Zahra Razavi Zahra Razavi Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran; Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. Tel: +98-9183122066, Fax: +98-8132640064 Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran; Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. Tel: +98-9183122066, Fax: +98-8132640064 Lida Mohammadi Lida Mohammadi Medical student, Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran Medical student, Pediatrics Department, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
en 28123437 10.5812/ijem.37311 A Case Series: Congenital Hyperinsulinism A Case Series: Congenital Hyperinsulinism case-report case-report Conclusions

Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes. Despite early diagnosis, psychomotor retardation was seen in two patients.

Introduction

Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown.

Case Presentation

During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease.

Conclusions

Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes. Despite early diagnosis, psychomotor retardation was seen in two patients.

Introduction

Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown.

Case Presentation

During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease.

Congenital Hyperinsulinism;ABCC8;KCNJ11;HADH Congenital Hyperinsulinism;ABCC8;KCNJ11;HADH http://www.endometabol.com/index.php?page=article&article_id=37311 Mohammad Reza Alaei Mohammad Reza Alaei Department of Pediatric Endocrinology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran Department of Pediatric Endocrinology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran Susan Akbaroghli Susan Akbaroghli Genetic Counseling Division, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran; Mofid Children’s Hospital, Tehran, IR Iran. Tel: +98-2122227033, Fax: +98-2122227033 Genetic Counseling Division, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran; Mofid Children’s Hospital, Tehran, IR Iran. Tel: +98-2122227033, Fax: +98-2122227033 Mohammad Keramatipour Mohammad Keramatipour Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran Ali Alaei Ali Alaei School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
en 28123438 10.5812/ijem.39174 A Rare and Severe Complication Following Thyroid Fine Needle Aspiration: Retropharyngeal Cellulitis A Rare and Severe Complication Following Thyroid Fine Needle Aspiration: Retropharyngeal Cellulitis case-report case-report Conclusions

For the first time to our knowledge, we have reported a severe retropharyngeal and upper mediastinum cellulitis, probably due to the FNA procedure in an immunocompetent young woman.

Case Presentation

A thirty-five-year-old female was admitted to hospital with hoarseness, laryngeal stridor and dyspnea without fever that emerged about 3 days after a first diagnostic FNA. After the procedure, the patient felt her voice became hoarse and 1 day before presentation began to have dyspnea, without fever. It had become difficult for her to swallow solids, and she felt as if food was sticking in her throat. In the emergency room, hematochemical tests and CT scan of the neck/mediastinum had been performed. This showed leukocytosis with neutrophilia and a severe cellulitis framework with involvement of the laterocervical neck area and in particular, the invasion of the retropharynx and the upper part of the mediastinum. The patient was admitted in hospital for an anti-inflammatory therapy with cortisone and antibiotic therapy.

Introduction

Fine needle aspiration (FNA) is the most accurate and cost-effective method for evaluating thyroid nodules. We have reported a rare complication related to the procedure: severe retropharyngeal cellulitis.

Conclusions

For the first time to our knowledge, we have reported a severe retropharyngeal and upper mediastinum cellulitis, probably due to the FNA procedure in an immunocompetent young woman.

Case Presentation

A thirty-five-year-old female was admitted to hospital with hoarseness, laryngeal stridor and dyspnea without fever that emerged about 3 days after a first diagnostic FNA. After the procedure, the patient felt her voice became hoarse and 1 day before presentation began to have dyspnea, without fever. It had become difficult for her to swallow solids, and she felt as if food was sticking in her throat. In the emergency room, hematochemical tests and CT scan of the neck/mediastinum had been performed. This showed leukocytosis with neutrophilia and a severe cellulitis framework with involvement of the laterocervical neck area and in particular, the invasion of the retropharynx and the upper part of the mediastinum. The patient was admitted in hospital for an anti-inflammatory therapy with cortisone and antibiotic therapy.

Introduction

Fine needle aspiration (FNA) is the most accurate and cost-effective method for evaluating thyroid nodules. We have reported a rare complication related to the procedure: severe retropharyngeal cellulitis.

Retropharyngeal Cellulitis;Fine Needle Aspiration;Thyroid;Thyroid Nodule Retropharyngeal Cellulitis;Fine Needle Aspiration;Thyroid;Thyroid Nodule http://www.endometabol.com/index.php?page=article&article_id=39174 Roberto Cesareo Roberto Cesareo Department of Internal Medicine, S. M. Goretti Hospital, Latina, Italy Department of Internal Medicine, S. M. Goretti Hospital, Latina, Italy Anda Naciu Anda Naciu Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Antonio Barberi Antonio Barberi Department of Radiology, S. M. Goretti Hospital, Latina, Italy Department of Radiology, S. M. Goretti Hospital, Latina, Italy Valerio Pasqualini Valerio Pasqualini Department of Radiology, S. M. Goretti Hospital, Latina, Italy Department of Radiology, S. M. Goretti Hospital, Latina, Italy Giuseppe Pelle Giuseppe Pelle Department of Radiology, S. M. Goretti Hospital, Latina, Italy Department of Radiology, S. M. Goretti Hospital, Latina, Italy Silvia Manfrini Silvia Manfrini Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Gaia Tabacco Gaia Tabacco Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Angelo Lauria Pantano Angelo Lauria Pantano Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Department of Endocrinology, University Campus Bio-Medico, Rome, Italy Giuseppe Campagna Giuseppe Campagna Department of Internal Medicine, S. M. Goretti Hospital, Latina, Italy Department of Internal Medicine, S. M. Goretti Hospital, Latina, Italy Roberto Cianni Roberto Cianni Department of Radiology, S. M. Goretti Hospital, Latina, Italy Department of Radiology, S. M. Goretti Hospital, Latina, Italy Andrea Palermo Andrea Palermo Department of Endocrinology, University Campus Bio-Medico, Rome, Italy; Department of Endocrinology, University Campus Bio-Medico, Rome, Italy. Tel: +39-6225419184, Fax: +39-622541698 Department of Endocrinology, University Campus Bio-Medico, Rome, Italy; Department of Endocrinology, University Campus Bio-Medico, Rome, Italy. Tel: +39-6225419184, Fax: +39-622541698