Dimitrios Patoulias

Parameatal Urethral Cyst in a Newborn–A Case Report and Review of the Literature

Parameatal urethral cysts are rare congenital lesions of the penis that are usually <1cm in diameter in the paediatric population and do not create any urinary difficulties. Their natural course is either to resolve or to be surgically excised without any postoperative complications. We report a case of a newborn with a parameatal urethral cyst that produced voiding difficulties and was treated by surgical excision.

Pseudohyperaldosteronism due to mumijo consumption during pregnancy: a licorice-like syndrome

Abstract Herbal supplements are widely used during pregnancy, although there are insufficient data regarding their efficacy and safety. Some of them have been associated with hypertension, including licorice, which induces the so called mineralocorticoid-excess syndrome, a clinical picture resembling to pseudohyperaldosteronism. This action is mediated via inhibition of 11-hydroxysteroid dehydrogenase type 2 (11-HSD2), leading to impaired inactivation of cortisol to cortisone, accumulation of cortisol, and finally to excessive mineralocorticoid activity, especially in the distal and cumulative tubule of kidneys. This syndrome is characterized by hypertension and hypokalemia. Herein, we report a case of a 37-year-old pregnant woman, who was referred from obstetrics department to our department due to persistent hypertension and hypokalemia. She consumed a herbal supplement called “mumijo” during the last 6 months. After a thorough diagnostic work-up, the diagnosis of a “licorice-like syndrome” due to mumijo consumption was made. Potassium supplementation at the acute phase and discontinuation of mumijo were the treatment of choice. This is the first report of pseudohyperaldosteronism due to mumijo consumption in literature. Clinicians should be aware of this side effect and this agent should be included in those causing pseudohyperaldosteronism. Besides all, our case highlights the undeniable value of a detailed medical history. 摘要 尽管关于其功效和安全性的数据不足, 草药制剂在怀孕期间仍被广泛使用。其中一些与高血压相关, 包括甘草, 其可诱导所谓的盐皮质激素过量综合征, 其临床表现类似于假性醛固酮增多症。该作用通过抑制11-羟基类固醇脱氢酶2型（11-HSD2）介导, 导致皮质醇失活（脱氢）转变为可的松的能力受损, 尤其是在肾脏的远端小管和集合管中皮质醇蓄积, 最终导致过度的盐皮质激素活性。该综合征的特征是高血压和低钾血症。本文我们报告了一例37岁的孕妇, 由于持续性高血压和低钾血症, 从产科转诊到我科。在过去的6个月里, 她食用了一种名为“mumijo”的草药补品。经过全面的检查, 我们给出了因mumijo摄入而发生的“甘草样综合征”的诊断。急性期的钾补充和mumijo的停用是首选治疗方法。 这是第一次在文献中报道因摄入mumijo引起的假性醛固酮增多症。临床医生应该意识到这种副作用, 这种药物应该包含在能导致假性醛固酮过多症的药物目录中。除此之外, 我们的案例突出了详细病史的无可否认的价值。

Does a gluten-free diet determine the efficacy of sotagliflozin in patients with concomitant type 1 diabetes mellitus and celiac disease?

Sodium glucose-cotransporter type 2 (SGLT-2) inhibitors constitute a novel class of antidiabetics, approved for the treatment of type 2 diabetes mellitus. There are sufficient data regarding their contribution to significant improvement in the major cardiometabolic parameters (HbA 1c, fasting plasma glucose, blood pressure, lipid profile, body weight), with promising results in cardiovascular and diabetic kidney disease [1–4]. Their insulin-independent mechanism of action makes them an attractive and promising treatment option in patients with type 1 diabetes mellitus, as an adjunct therapy to insulin. Sodium glucose-cotransporter type 2 inhibitors provide significant improvement in two main adverse effects of insulin, namely hypoglycaemic events and weight gain; thus, the discussion on their use in those patients is ongoing. Sotagliflozin, a dual SGLT1/SGLT2 inhibitor, acts as a glucagon-like peptide 1 secretagogue, as well. The latter makes sotagliflozin an interesting therapeutic option in diabetic patients [5]. Garg et al. reported significant clinical benefits of sotagliflozin when added to insulin in patients with type 1 diabetes, namely improved glycaemic control, along with weight reduction and blood pressure lowering effects, results similar to those provided by Sands et al., despite the substantial differences in the number of involved patients and the short-term evaluation of the efficacy of sotagliflozin [6, 7]. We would like to draw attention to a specific point. It is well established that type 1 diabetes and celiac disease share common alleles, leading to frequent concomitance of the two diseases, both in youths and adults [8, 9]. Based on the fact that SGLT1 expression has been shown to be absent in patients with untreated celiac disease, normalising after initiation of a gluten-free diet for at least 12 months, it seems reasonable that sotagliflozin, a dual SGLT1/SGLT2 inhibitor, may provide significant therapeutic results in patients with concomitant type 1 diabetes and celiac disease, along with appropriate dietary modification [10]. In other words, sotagliflozin is expected to act only through SGLT2 inhibition in those patients with untreated celiac disease, leading to insufficient glycaemic control. Thus, it is deduced that in patients following a gluten free diet, sotagliflozin will inhibit both SGLT1 and SGLT2 inhibitors, maximizing its glucose lowering properties. Another question that arises is whether sotagliflozin is equally efficient in type 1 diabetic patients with treated celiac disease and in type 1 diabetic patients without celiac disease. After conjugation of pathophysiologic mechanisms and clinical data, it seems that sotagliflozin is a very promising treatment option. Of course, this is a hypothesis based upon very limited relevant literature, which must be further elucidated. Thus, further clinical trials concerning the use of sotagliflozin in patients with concomitant type 1 diabetes and celiac disease, both treated and untreated, and the achieved glycaemic control are required, in order to reinforce, confirm, or reject this hypothesis.

Drugs that mimic the effect of gene mutations for the prevention or the treatment of atherosclerotic disease: from PCSK9 inhibition to ANGPTL3 inactivation.

BACKGROUND Drugs mimicking natural beneficial mutations, including that for familial hypercholesterolemia (FH), might represent the future of hypolipidemic drug treatment. OBJECTIVE The aim of this review is to review the properties and the effects of these drugs, which are either already commercially available or are in the process to be approved for the treatment of dyslipidemia. RESULTS More than a decade ago, it was accidentally discovered that proprotein convertase subtilisin/kexin type 9 (PCSK9) loss-of-function mutations resulted in marked lifelong reduction of LDL-C and the incidence of cardiovascular disease (CVD). This provided the idea for a human anti-PCSK9 antibody. Along with dozens of phase II and III studies demonstrating unprecedented reductions in LDL-C levels, two large clinical trials established the substantial benefits of evolocumab and alirocumab on cardiovascular morbidity and mortality, on top of standard treatment. Evolocumab and alirocumab are now approved and used in clinical practice for the treatment of FH, statin intolerance, and high risk patients not achieving LDL-C targets. Anti RNA, small molecules, peptides and also protein fragments against PCSK9 are in phase 1 trials. Angiopoietin-like protein 3 (ANGPTL3) regulates lipid metabolism increasing triglycerides (TGs), remnants, and LDL-C. In a huge study, ANGPTL3 deficiency due to gene(s) loss-of-function was associated with substantial reductions in circulating TGs, LDL-C, and CVD. Evinacumab, an ANGPTL3 antibody, caused a dose-dependent reduction in fasting TG levels of up to 76% and LDL-C of up to 23% and CVD risk by 41%. There is also antisense oligonucleotide and micro-RNA- 27b (miR-27b) against ANGPTL3. Two naturally occurring mutations in apo3 gene, A23T and K58E, reduce TGs and CVD risk. A monoclonal antibody targeting apoC-III has the same effect. CONCLUSION Mimicking the beneficial naturally happening mutations in lipid metabolism pathways with biological drugs is probably the future of hypolipidemic drug treatment.

SGLT-2 inhibitors in type 1 diabetes mellitus: a comprehensive review of the literature

BACKGROUND Sodium-Glucose Cotransporter 2 (SGTL-2) inhibitors are a new class of antidiabetics, which have been approved for the treatment of patients with Type 2 Diabetes Mellitus (T2DM). Besides their beneficial metabolic effects, they exert favourable results in cardiovascular events and risk factors along with renoprotection. However, SGLT-2 inhibitors have not been yet approved as an adjunct therapy to insulin in patients with Type 1 Diabetes Mellitus (T1DM). This review aims at presenting both clinical and experimental data that reinforce the role of SGLT-2 inhibitors as adjunctive treatment in patients with T1DM along with the main restrictions of their use, namely Diabetic Ketoacidosis (DKA). METHODS We conducted a comprehensive research of the relevant literature regarding the off-label use of SGLT-2 inhibitors in clinical practice, presenting the major benefits and the potential risks. RESULTS SGLT-2 inhibitors are associated with improved glycemic control, reduction in body weight, and decrease in insulin dosage, along with their beneficial cardiovascular and renal effects. However, we cannot overlook the association with increased incidence of DKA events, in the presence of well known predisposing factors. Further investigation is required, in order to establish them as adjunctive treatment in those patients. CONCLUSION This novel class of antidiabetics seems to be a very attractive treatment option in patients with T1DM, due to their multiple beneficial effects, but the increased risk of DKA should be taken into account.

A Bilateral, Non-syndromic, Type III Second Branchial Arch Sinus in a Neonate: a Case Report

The incidence of a second branchial arch sinus accounts for 26-60% of all existing congenital malformations deriving from the branchial apparatus. They are most usually detected between 14 months and 7 years of age, while their incidence during neonatal period and infancy accounts for 0.06% of all cases. The aim of this case study is to emphasize three rare characteristic features: the manifestation during neonatal period, the bilateral localization and the ultrasonographic diagnostic documentation. A 25 days old girl was admitted by her parents due to the presence of mucoid excretion from two small openings found on the neck. These openings were found bilaterally, between the mid and lower third of the anterior border of sternocleidomastoid muscle. Diagnosis was confirmed via ultrasonography. The patient underwent elective surgery during early infancy and both branchial fistulas were excised. Patients postoperative course was uneventful. IN CONCLUSION - in cases of a bilateral second branchial arch sinus, the branchio-oto-renal (BOR) or branchio-otic (BO) syndromes must be excluded; - ultrasound scan can be used for the thorough evaluation of the sinus anatomic course and the relationship with the adjacent anatomic structures; - rompt diagnosis and early therapeutic intervention, even during neonatal period, ensures an uneventful post-operation course.

Fountain’s Sign as a Diagnostic Key in Acute Idiopathic Scrotal Edema: Case Report and Review of the Literature

The acute idiopathic scrotal edema (AISE) is a self-limited disease of unknown etiology, characterized by edema and erythema of the scrotum and the dartos, without expansion to the underlying layers of scrotums wall or to the endoscrotal structures. Boys younger than 10 years old are usually involved in 60-90% of all cases. Diagnosis is made after exclusion of other causes of acute scrotum. We present a case of a 7-year old boy, who was admitted to the Emergency Department due to development of scrotal edema and erythema over the last 48 hours, which extended to the base of the penis. The patient mentioned that he first noticed the erythema on the anterior surface of the right hemiscrotum, which gradually extended. Physical examination did not reveal presence of pathology involving the endoscrotal structures, indicative of need for urgent surgical intervention. Transillumination was negative for blue dot sign. Ultrasonographic examination of the scrotum documented the homogeneity of the testicular parenchyma, while color Doppler revealed the presence of fountains sign (equal arterial blood supply to both testicles). Conservative strategy was followed and the patient gradually improved within the next three days. In conclusion, meticulous physical examination along with ultrasonographic examination of the suffering scrotum, especially with the highlighting of fountains sign with color Doppler, document the diagnosis of AISE. Thus, need for urgent surgical investigation of the suffering scrotum due to diagnostic doubt is limited.

Cystic Lymphangioma of the Chest Wall in a 5-Year-Old Male Patient: A Rare and Atypical Localization—A Case Report and Comprehensive Review of the Literature

Lymphangioma is a benign congenital malformation. The extremely rare and atypical localization of a lymphangioma in the chest wall was the real motive for the present case study. A 5-year-old boy was admitted to the Emergency Department of the 1st Department of Pediatric Surgery, Aristotle University of Thessaloniki, due to the presence of a mildly painful swelling in the left lateral chest wall, which was first noticed three months ago, after a blunt injury during sport. Physical examination revealed the presence of a palpable, spherical, painful, nut-sized subcutaneous lesion in the left lateral chest wall, respectively, with the anterior axillary line, at the height of the 6th to 7th intercostal space. Presence of ecchymosis on the overlying skin was also noticed. During palpation, we did not notice fluctuation, while transillumination was not feasible. Performance of ultrasonography, including Doppler color flow imaging, followed, depicting a subcutaneous cystic lesion, 2.1⁎3.2 cm in dimensions, without extension to the thoracic cavity. Scheduled surgical excision of the lesion was decided. Histopathological examination documented the diagnosis of cystic lymphangioma. Patient is still followed up on a 6-month basis. He remains asymptomatic, after 2 years, without indication of relapse.

HSV-1 Encephalitis: High Index of Clinical Suspicion, Prompt Diagnosis, and Early Therapeutic Intervention Are the Triptych of Success—Report of Two Cases and Comprehensive Review of the Literature

Herpes Simplex Virus (HSV) encephalitis is an acute infectious disease of the Central Nervous System (CNS), usually affecting the limbic structures, the median temporal cortex, and the orbitofrontal regions. Its annual incidence has significantly increased over the last 20 years and the mortality rate is 7%, if early diagnosed and treated, and 70%, if left untreated, while it is associated with high rates of morbidity. It should be noted that even when Cerebrospinal fluid (CSF) analysis seems normal, imaging studies are not specific and HSV Polymerase Chain Reaction (PCR) test is negative; the clinician should be more aggressive, if clinical presentation is indicative for HSV encephalitis, by administrating acyclovir early after patients admission. The latter may be a vital intervention for the patient, modifying the patients clinical course. Through the presentation of two cases of HSV-1 encephalitis that we managed in our department over the last 1 year and after systematic and comprehensive research of the relevant literature, we aim at showing the crucial role of medical history and physical examination, along with the high index of clinical suspicion, in order to make promptly the diagnosis and administer timely intravenous acyclovir, limiting the possibility of complications during the diseases course.

Paraesophageal Hernia as a Cause of Chronic Asymptomatic Anemia in a 6 Years Old Boy; Case Report and Review of the Literature

Esophageal hiatal hernia is defined as the prolapse of one or more intra-abdominal organs through the esophageal hiatus. Four types are identified: type Ι or sliding hiatal hernia, type II or paraesophageal hernia (PEH), type III or mixed hernia and type IV. Congenital type II esophageal hiatal hernia is caused by a remaining gap after the formation of pleuroperitoneal membrane. We present a case of a six years old boy admitted to our department, appearing with asymptomatic anemia, who was incidentally diagnosed with Type II esophageal hiatal hernia. After diagnostic investigation, the prolapsing stomach pouch was reduced, the hernia sac was excised, the crura of diaphragm were converged and a total fundoplication was performed, via open method. The patient had an uncomplicated postoperative period. We conclude that: 1) esophageal hiatal hernia should be included within diagnostic approach of a child with chronic non-hereditary anemia, 2) after a Type II esophageal hiatal hernia is diagnosed, a hernia repair surgery is indicated in short time, due to the severity of possible complications and 3) through the performance of total fundoplication, it is secured that the subdiaphragmatic abdominal part of esophagus will be retained, preventing the development of post-operative gastroesophageal reflux disease.