A New Hemoglobin Variant, Hb Natal (HBA1: c.423C>A), Found in a Greek Family.

The rare hemoglobin (Hb) variant Hb Natal [α140(HC2)Tyr-Arg→0 (HBA2: c.423C>A)], detected on the α2-globin gene, is characterized by a shortened polypeptide chain because of a premature stop codon formation in codon 140. Here, we report identification of the same genetic variation but in the corresponding position of the α1-globin gene, in a heterozygous state, in five members of a Greek family. All carriers of Hb Natal (ααNatal/αα) present with mild hematological and no clinical findings. This innocuous Hb variant was initially detected, in the context of the national prevention program for hemoglobinopathies, by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Identification of the variant was performed by molecular analysis of the α-globin genes. This is the first description of a heterozygous Hb Natal in a Greek family, and the first description of this genetic variant on the HBA1 gene, worldwide.

BRCA1-BRCT Mutations Alter the Subcellular Localization of BRCA1 In Vitro.

BACKGROUND/AIM: Numerous missense mutations have been determined in the BRCT domain of the BRCA1 gene, affecting localization and interaction of BRCA1 with other proteins. MATERIALS AND METHODS: We examined whether the M1775K and V1809F mutations in the BRCT domain affect BRCA1 cellular localization. Cells were transfected with pEGFP-C3-BRCA1 and detected by fluorescence microscopy. RESULTS: Following induction of DNA damage, cytoplasmic mislocalization was observed for both M1775K and V1809F mutants compared to EGFP-BRCA1wt and the less common variant M1652I. These results indicate that M1775K and V1809F mutations may change the function of the protein by affecting BRCA1 localization. CONCLUSION: There is a correlation between subcellular localization of BRCA1 and diminished DNA repair observed in breast cancer cells, which may be explained by structural variations and altered binding properties of phosphopeptides.

Influenza a H1N1 associated acute glomerulonephritis in an adolescent.

Influenza virus primarily affects the respiratory system. It rarely causes extrapulmonary complications, with otitis media and febrile seizures being the most common in children. Acute glomerulonephritis as a complication of H1N1 influenza virus infection has been described only sporadically. Herein we present a case of acute glomerulonephritis in a previously healthy adolescent, in the context of infection with influenza A H1N1 virus. A 15-year old adolescent was admitted to our pediatric department due to fever, pharyngitis, cough, vomit, dizziness and fatigue. Based on his symptoms and the seasonal epidemiology, empiric treatment with oseltamivir was initiated while waiting for RT-PCR for influenza virus in pharyngeal swab, which was positive for A H1N1 influenza virus. In the first 24 h of admission, the patient presented macroscopic haematuria, which completely subsided in the following days, along with fever recession. The urine microscopic analysis showed findings compatible with acute glomerulonephritis. The patient remained normotasic while his biochemical profile including renal function, as well as further investigation of hematuria (immunoglobulins, C3, C4, ANA, anti-DNA, U/S) were all normal. ASTO levels, which were initially above normal (562 IU/ml), did not increase significantly in the following days, and given the fact that C3 levels were constantly within normal limits and pharyngeal culture was negative for pyogenic streptococcus, they were not considered sufficient for poststreptococcal glomerulonephritis diagnosis. Physicians should be suspicious and include influenza in the differential diagnosis when children present with uncommon symptoms such as hematuria along with even mild respiratory symptoms, during seasonal influenza period.

Human Herpesvirus 7-Related Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently described entity so far exclusively in East Asian children. AESD diagnosis is based on clinicoradiologic criteria, often without pleocytic CSF and characterized by hyperglycemia and transaminasemia. Here, we present the first case of human herpesvirus 7-related AESD in an immunocompetent child >2 years old and of Caucasian origin.

Metastatic Carcinomas of the Adrenal Glands: From Diagnosis to Treatment.

BACKGROUND/AIM: Adrenal glands are one of the most common sites of cancer metastasis. The treatment options include either surgery or chemotherapy and/or radiotherapy while certain diagnosis is made via percutaneous biopsy or fine needle aspiration (FNA), guided by CT scan. This review aimed to present the current practice regarding the diagnosis and treatment of adrenal cancer metastasis. MATERIALS AND METHODS: A PRISMA-compliant systematic search of the PubMed, Cochrane, EMBASE, AMED, CINAHL, WoS, BIOSIS, LILACS, ASSIA, SCEH, SCIRUS databases, and JIT medical feed sources was performed through November 5th, 2018. RESULTS: A total of 87 original studies including 660 patients with adrenal metastasis were analyzed. Most preferred treatment was excision of the gland in 76.58% of the cases, while most of adrenal metastases were found at autopsy (43.88%) followed by computed tomography guided biopsy (33.09%). CONCLUSION: Adrenalectomy following metastatic disease to the adrenals should be performed when the lesion is isolated in the gland and the site of primary cancer has or can be resected.

Dyspnea caused by a giant retroperitoneal liposarcoma: A case report.

Liposarcomas are the most common soft tissue tumors with various histological subtypes. They usually appear in the retroperitoneal region of the abdomen, but their symptomatology remains unclear and their diagnosis, as well as treatment challenging. A case of a 55-year-old female patient with dyspnea and light diffuse abdominal pain caused by a giant retroperitoneal liposarcoma is presented. The patient had an unremarkable medical history, while the computed tomography scan revealed a large mass at the right portion of the abdomen, with its upper limits to the lower edge and the gate portion of the liver. The mass was in contact with the right kidney, the inferior vena cava and the right renal vein, causing mild dilation of the right kidney pelvis. Without any evidence of intra-abdominal metastases, the tumor was surgically resected. The histological analysis of the tumor revealed a well-differentiated liposarcoma. The patient had an uneventful recovery and was discharged on the 10th postoperative day. Until today (4 years later) she remains asymptomatic, without any signs of recurrence. The retroperitoneal liposarcoma is a clinical entity with unclear clinical symptoms and the physician should consider including it in the differential diagnosis of a majority of symptoms, such as dyspnea.

A prospective randomised trial of isolated pathogens of surgical site infections (SSI).

BACKGROUND: Every surgical wound is colonized by bacteria, but only a small percentage displays symptoms of infection. The distribution of pathogens isolated in surgical site infections has not significantly changed over the last decades. Staph. Aureus, Coag(-) Staphylococci, Enterococcus spp and E. Coli are the main strains appearing. In addition, a continuously rising proportion of surgical site infections caused by resistant bacterial species (MRSA, C. Albicans) has been reported. METHODS: This prospective and randomized clinical study was performed in the 1st Surgical Clinic of Sismanoglion General Hospital of Athens, from February 2009 to February 2015. Patients undergoing elective surgery in the upper or lower digestive system were randomized to receive antimicrobial treatment as chemoprophylaxis. Each patient filled a special monitoring form, recording epidemiological data, surgery related information, surgical site infections (deep and superficial), as well as postoperative morbidity (urinary and respiratory infections included). The monitoring of patients was carried by multiple visits on a daily basis during their hospitalization and continued after they were discharged via phone to postoperative day 30. RESULTS: Our overall SSI incidence was 4,3% (31patients out of a whole of 715 patients). Specifically, the incidence of SSIs for scheduled surgery of the upper GI tract was 2,2% (11 out of 500 patients) and for the lower GI tract was 9,3% (20 out of 215 patients). Seven main pathogens were isolated from patients with SSIs: Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae, Pseudomonas aeruginosa, Bacteroides fragilis, Staphylococcus aureus and Enterococcus faecalis. Their growth rates were respectively: S. Aureus (17,3%), E. faecalis (19,5%), P. aeruginosa (10,5%), B. Fragilis (13,4%) E. coli (20,4%), Enterobacter cloacae (9,1%) and K. Pneumoniae (9,8%). In addition, all the SSIs were found to be multimicrobial. Several studies have already revealed that patient characteristics and coexisting morbidities such as obesity, smoking, heart or renal failure, pre-existing localized infections and patients' age (especially if age exceeds 65) seem to be independent prognostic factors for surgical field infections. Additionally, classification of the surgical wound, surgical operation complexity, preoperative hospitalization, prolongation of surgical time and need for transfusions have been proved to differentiate the incidence of SSIs. CONCLUSIONS: In conclusion, surgical site infections are important complications affecting the healthcare services, the cost of hospitalization and the patient himself. Future thorough studies are expected to reveal much more data, regarding predisposing and precautionary patient and hospital characteristics.

Tissue necrosis following extravasation of acyclovir in an adolescent: A case report.

OBJECTIVE: Extravasation of intravenously infused vesicant solutions is a common problem in medical practice, which can lead to severe and progressive tissue dysfunction, ranging from persistent tissue oedema and fibrosis to delayed tissue necrosis. Acyclovir is a known vesicant medication administrated in paediatric patients, which appears to irritate venous and soft tissue if extravasated. CASE REPORT: We present the first case involving the extravasation of intravenously infused acyclovir in a female adolescent patient, which caused tissue necrosis and left behind a residual scar lesion. Nursing and medical staff should be aware of the potential dermatological side effects of intravenously infused acyclovir and other medications, even a long time after infusion, and the possible lack of initial local symptoms and signs. CONCLUSION: Early recognition of extravasation and prompt management are critical in preventing further morbidity, and optimizing outcomes.

A rare cause for Hartmann's procedure due to biliary stent migration: A case report.

INTRODUCTION: Biliary stent migration (proximal or distal) occurs in 6% of all cases. The majority of these migrating stents are passing through the intestine, without causing any complications. Usually when a stent migration occurs, endoscopic retrieval is the proper treatment option, except in case of complications when surgical removal is the only treatment option. This report presents a case of a biliary stent which migrated and caused a sigmoid colon perforation. PRESENTATION OF CASE: A 75 years old female patient presented to the emergency department with diffuse abdominal pain, nausea and vomiting. Clinical examination showed distended abdomen and signs of peritoneal irritation. CT scan of the abdomen revealed free gas and fluid in the left iliac fossa, as well as a foreign body penetrating the sigmoid colon. Emergency laparotomy was performed. A plastic stent was found perforating the sigmoid colon through a diverticulum. The rest of the sigmoid colon was intact presenting only uncomplicated diverticula. Hartmann's operation was performed, involving the diseased segment, together with part of the descending colon due to profound diverticulosis. Patient's post-surgical course was uneventful and was discharged on postoperative day 10. DISCUSSION: Migration of a biliary stent can cause life-threatening complications such as perforation of the intestine and peritonitis. The migration of the stent from the biliary tree may be mostly asymptomatic except in cases of intestinal perforation that immediate surgery is the proper treatment option. On the other hand, even in cases of benign lesions of the bile duct, the stent should be removed immediately after dislocation in order to reduce the risk of secondary complications such as obstruction, infection or perforation. CONCLUSION: In cases of non-complicated stent migration endoscopic retrieval is the indicated treatment. In patients who suffer serious complications due to stent dislocation, emergency surgery may be the proper treatment option.

Torsion of the greater omentum: two case reports.

INTRODUCTION: Torsion of the omentum is a benign self-limiting disorder, which is difficult to diagnose because the main symptoms are similar to those of other abdominal diseases. Most of the published cases had been diagnosed during operation via direct eye view. According to several studies, it is important that the correct preoperative diagnosis is made as omental torsion can be treated conservatively in most cases without any complications avoiding surgical intervention. However, patients should be under clinical and laboratory observation in order to detect symptoms that would lead to surgical intervention in which case a laparoscopy is the appropriate surgical treatment. CASE PRESENTATION: Torsion of the great omentum is a rare cause of acute abdominal pain which is usually misdiagnosed. In this study we report two cases, a 52-year-old Greek woman and a 68-year-old Greek man, who presented at our emergency room with symptoms such as right lower quadrant pain and tenderness similar to acute appendicitis. In both cases a surgical exploratory laparotomy of the abdomen revealed a twisted heavily congested segment of the right part of the greater omentum accompanied by intra-abdominal serosanguinous fluid. CONCLUSIONS: Greater omental torsion is difficult to diagnose preoperatively. It presents as acute abdominal pain located more often in the right iliac fossa. It is very important to make a correct preoperative diagnosis because omental torsion is a benign self-limiting disorder that can be treated conservatively, avoiding laparotomy. When a patient's clinical, laboratory and radiological findings worsen or diagnosis is doubtful then laparoscopy is the appropriate method for diagnosis and treatment.

Incarcerated Amyand hernia with simultaneous rupture of an adenocarcinoma in an inguinal hernia sac: a case report.

INTRODUCTION: An Amyand's hernia is a rare occurrence of an inguinal hernia, with an estimated prevalence of 1%. The major complications of an Amyand's hernia include necrotizing fasciitis of the anterior abdominal wall and secondary intestinal perforation. Though the incidence of this type of hernia is low, the appendix may easily become initially incarcerated, possibly leading to strangulation and perforation. CASE PRESENTATION: A 92-year-old female patient presented to our emergency department with clinical signs of an incarcerated right inguinal hernia, accompanied by fever. A clinical examination revealed localized abdominal pain, reflecting to the right side of her groin. Laboratory tests showed leukocytosis (13,200/µL), while an abdominal X-ray showed colon distension with evidence of intestinal obstruction. Ultrasonography was performed and confirmed the presence of an inflamed tubular structure inside her right inguinal canal. Our patient underwent emergency surgery. We started with a right inguinal incision, which revealed an incarcerated right inguinal hernia, containing her ruptured appendix and showing macroscopic evidence of malignancy. A specimen biopsy was immediately performed and the results showed a ruptured cecal adenocarcinoma. The incision was slightly extended upwards, and a right hemicolectomy performed. CONCLUSIONS: Diagnosis of an Amyand's hernia occurs primarily as an incidental finding during surgery and the optimal therapeutic approach must be considered individually for each case. Owing to the rarity of Amyand's hernia and the wide variance of its clinical characteristics, every case provides useful information toward the treatment of this type of hernia.

Adenoma of the ampulla of Vater: a case report.

INTRODUCTION: Lesions of the ampulla of Vater are rare histological entities with an incidence of between 0.1 and 0.2% of gastrointestinal tumors. Until recently the main response to this kind of lesion was duodenopancreatectomy, regardless of the cellular atypia and local edema. In this study, we propose the application of transduodenal local excision of the ampulla of Vater especially in recognized cases of nonmalignant adenomas. CASE PRESENTATION: In this case report we analyze the case of a 78-year-old Greek man who revealed symptoms such as icterus, abdominal pain without constipation and bloody stools. A physical examination showed painless swelling of the gallbladder (Courvoisier sign). No previous abdominal operations or hernias were identified. Blood tests, computed tomography scan analysis, gastroscopy and endoscopic retrograde cholangiopancreatography along with biopsies and cytological tests diagnosed nonmalignant adenoma of the ampulla of Vater with high-grade dysplasia. The treatment we followed was transduodenal local excision of his ampulla of Vater. CONCLUSIONS: Transduodenal local excision of the ampulla of Vater has limited side effects and postoperative complications, suggesting this particular technique to be the proper treatment for nonmalignant cases of adenomas.

Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets.

The breast cancer tumor suppressor protein BRCA1 is involved in DNA repair and cell cycle control. Mutations at the two C-terminal tandem (BRCT) repeats of BRCA1 detected in breast tumor patients were identified either to lower the stability of the BRCT domain and/or to disrupt the interaction of BRCT with phoshpopeptides. The aim of this study was to analyze five BRCT pathogenic mutations for their effect on structural integrity and protein stability. For this purpose, the five cancer-associated BRCT mutants: V1696L, M1775K, M1783T, V1809F, and P1812A were cloned in suitable prokaryotic protein production vectors, and the recombinant proteins were purified in soluble and stable form for further biophysical studies. The biophysical analysis of the secondary structure and the thermodynamic stability of the wild-type, wt, and the five mutants of the BRCT domain were performed by Circular Dichroism Spectroscopy (CD) and Differential Scanning Microcalorimetry (DSC), respectively. The binding capacity of the wt and mutant BRCT with (pBACH1/BRIP1) and pCtIP were measured by Isothermal Titration Calorimetry (ITC). The experimental results demonstrated that the five mutations of the BRCT domain: (i) affected the thermal unfolding temperature as well as the unfolding enthalpy of the domain, to a varying degree depending upon the induced destabilization and (ii) altered and/or abolished their affinity to synthetic pBACH1/BRIP1 and pCtIP phosphopeptides by affecting the structural integrity of the BRCT active sites. The presented experimental results are one step towards the elucidation of the effect of various missense mutations on the structure and function of BRCA1-BRCT.