Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.

Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D.

Laparoscopic cholecystectomy in patients aged 60 years and over - our experience.

Aim. To analyze the efficiency of laparoscopic cholecystectomy for the population aged 60 years and over admitted with acute cholecystitis, the clinical features and associated pathology presented by these patients and the impact of these factors on the choice of surgical technique. Materials and method. A retrospective study was carried out between February 2010 and February 2015, on patients aged 60 years and over, operated in emergency for acute cholecystitis in our clinic. All data were extracted from the registered medical documents and operatory protocols. Results. A total of 497 surgeries were performed for acute cholecystitis, of which 149 were patients aged 60 years and over (30%). Open surgery is much better represented in the population aged over 60 years (61.75% vs. 29.98%). One major cause is the associated pathology that increases the anesthetic risk and hampers a laparoscopic procedure. The conversion rate in the study group presented a higher percentage, but not more exaggerated than in the general population (6.71% vs. 4.63 %).Patients who underwent laparoscopic surgery had a faster recovery and required lower doses and shorter term pain medication, in contrast to conventional surgery (1,8 days vs. 5.7 days). Bile leak has been of reduced quantity, short-term and stopped spontaneously. Only one case needed reintervention, in which aberrant bile ducts that were clipped were found in the gallbladder bed, was operated by laparoscopy. Wound infections and swelling were also encountered more frequently in patients that underwent classic surgery (3.24%). Conclusions. Performing laparoscopic cholecystectomy, when possible, has produced very good results, reducing the average length of stay of patients and even decreasing the number of postoperative complications, thus allowing a faster reintegration of patients into society. The main concern was related to the associated pathology that increased the anesthetic risk.

Gastrostomy with peritoneal collar versus percutaneous endoscopic gastrostomy.

Aim. The present study aimed to perform a medico-surgical comparative analysis of the 2 most widely used techniques: gastrostomy with peritoneal collar versus percutaneous endoscopic gastrostomy, based on the vast clinical experience in an Upper Digestive Surgery Clinic. Materials and method. A retrospective study was carried out between January 2010 and January 2015 on the patients admitted for a surgical solution for feeding. The indications, preoperative preparation, surgical techniques, and postoperative outcomes were analyzed. Results. Out of the 94 cases admitted for a surgical solution for feeding, 67 underwent gastrostomy with peritoneal collar (GPC) and in 27 cases percutaneous endoscopic gastrostomy (PEG) was performed. The indications for GPC were benign or malign causes of dysphagia, the most frequent being malign tumors of tongue, pharynx and larynx (47.76%), advanced inoperable esophageal or eso-cardiac cancers (26,86%), post-caustic esophageal stenosis (10.44%). PEG was performed in patients with functional difficulties of swallowing: sequelae of cerebral vascular accidents (44.44%), low Glasgow Coma Scale Score (29.62%) of different etiologies, Parkinson disease (18.51%) advanced dementia (7.4%), early nasopharyngeal cancer (2 cases). The intraoperatory and postoperatory complications were few and of minor importance in both techniques, but PEG allowed an immediate retake of alimentation (vs. at least 48 hours wait in GPC), with less gastric stasis, biliary reflux and aspiration related respiratory problems. Conclusions. Both techniques are easy and safe to perform, but an appropriate selection is required according to the cause of the swallowing difficulty. In cases with permeable digestive tube, PEG may be an excellent minimally invasive solution, but the costs and availability of the PEG kit and prehydrolyzed nutritive solution, as well as the co-existence of an upper digestive endoscopy service were limitations that had to be taken into account.

Peritoneal fibrinolytic activity and adhesiogenesis.

INTRODUCTION: Postoperative adhesions after abdominal or pelvic surgery remain an important clinical problem causing infertility, pain and bowel obstruction. Their prevention and treatment remains poorly understood and inadequate. The formation of adhesions is caused by the organization of a fibrin matrix, an organization that takes place during the coagulation process when there is suppression of fibrinolysis. METHODS: In this study peritoneal tissue and peritoneal fluid from two groups of patients were sampled and analysed. The first group comprised of 12 patients undergoing abdominal surgery for an acute abdomen during which known peritoneal factors of aggression (trauma, chemical, bacterial) were present which are known to increase the propensity for peritoneal adhesion formation. A second group consisting of 6 patients undergoing surgery in the absence of these peritoneal aggression factors acted as a reference control group. Each patient had peritoneal tissue sampled at the time of surgery and analysed for levels of gene expression of tissue plasminogen activator (tPA) and plasminogen activator inhibitor-1 (PAI-1). Patients also had peritoneal drain fluid collected postoperatively and analysed for quantities of fibrin degradation products (FDPs) and fibrinogen. RESULTS: The aim of this study was to evaluate the role of PAI-1 and tPA genes at peritoneal tissue level. Peritoneal tissue was obtained during surgery and the variation of expression of PAI-1 and tPA genes was quantified. The obtained results highlighted an increase of expression in PAI-1 gene and decrease of expression in tPA gene in patients with increased factors of peritoneal aggression compared to patients without, indicating a decreased fibrinolytic potential in patients with increased peritoneal adhesion propensity. Increased factors of peritoneal aggression also resulted in increased levels of FDPs and fibrinogen in peritoneal exudates.

Interleukin 6 and lipopolysaccharide binding protein - markers of inflammation in acute appendicitis.

The rate of incidence of acute appendicitis is 12% in the case of male patients and 25% in case of women, which represents about 7% of the world population. The appendectomy rate has remained constant (i.e. 10 out of 10,000 patients per year). Appendicitis most often occurs in patients aged between 11-40 years, on the threshold between the third and fourth decades, the average age being 31.3 years. Since the first appendectomy performed by Claudius Amyand (1681/6 -1740), on December, 6th, 1735 to our days, i.e., 270 years later, time has confirmed the efficiency of both the therapy method and the surgical solution. The surgical cure in case of acute appendicitis has proved to be acceptable within the most widely practised techniques in general surgery. The variety of clinical forms has reached all age ranges, which in its turn has resulted in a large number of semiotic signs. In the case of acute appendicitis, interdisciplinarity has allowed the transfer of concept and methodology transfer among many areas of expertise, aimed at a better, minute understanding of the inflammatory event itself. Acute appendicitis illustrates inflammation development at digestive level and provides for a diagnostic and paraclinical exploration which continually upgrades. The recent inclusion in the studies of the Lipopolysaccharide binding protein (LBP)- type inflammation markers has laid the foundation of the latter's documented presence in the case of acute appendicitis-related inflammation. Proof of the correlation between the histopathological, clinical and evolutive forms can be found by identifying and quantifying these inflammation markers. The importance of studying inflammation markers allows us to conduct studies going beyond the prognosis of the various stages in which these markers were identified. The present article shows the results of a 1-year monitoring of the inflammation markers' values for Interleukin-6 and Lipopolysaccharide binding protein (LBP)-types, both pre-op and 3-days post-op in the case of patients diagnosed with acute appendicitis in the Surgery Clinic IV of the Emergency University Hospital - Bucharest. The data collected have allowed us to correlate them with the selected parameters, and to draw the conclusions presented in this article.

[Clinical case--voluminous diaphragmatic hernia--surgically acute abdomen: diagnostic and therapeutical challenges]. / Caz clinic--hernie diafragmatica voluminoasa--abdomen acut chirurgical: dificultati diagnostice si terapeutice.

We present the case of a 58-year old male patient admitted in the surgery section of the University Emergency Hospital of Bucharest and diagnosed with acute abdomen. The minimal clinical-paraclinical investigation (i.e., thorax-pulmonary Xray, biological probes) raises questions as to the differentiated diagnosis and other associated diseases, also suggesting the existence of voluminous diaphragmatic hernia. The CT thorax-abdomen examination confirms the diaphragmatic hernia suspicion, with intra-thorax ascent of the colon up to the anterior C4 level, but does not explain the abdominal suffering; thus we suspected a biliary ileus or acute appendicitis. Medial laparotomy was imperative. Intrasurgically peritonitis was noticed located by gangrenous acute apendicitis, perforated, with coprolite, for which apendictomy and lavage-drainage pf the peritoneal cavity was performed. Post-surgical status: favourable to recovery.

[Clinical and morphological features in a case of recent gastric carcinoma (the signet ring cell carcinoma type)]. / Particularitati clinico-morfologice într-un caz de carcinom gastric incipient (tipul de carcinom în inel cu pecete).

The article presents the case of a male patient, hospitalized due to severe pain in the upper abdomen area, nausea, and vomiting. The patient was diagnosed with surgical acute abdomen, for which emergency surgery is performed. Upon penetration into the peritoneal cavity, stomach inspection shows at the medio-gastric level, on the greater curvature, a callous gastric ulcer, with a central perforation. A large excision is decided up to the healthy (normal) gastric tissue, and the resulting pieces are sent to the pathological anatomy laboratory. The histopathological exam reveals signet ring cell recent gastric carcinoma. The biopsy performed 1 month after surgery, prelevated from the antropyloric zone, reveals antropyloric gastritis with moderate activity and Helicobacter pylori positive. Due to the fact that such cases when this gastric cancer type is diagnosed in recent stages are extremely rare, we considered it useful to present it and look into its macroscopic and microscopic aspects, as well as into the differentiating diagnosis.

[Amyand's hernia--a clinical case]. / Hernia Amyand--caz clinic.

Amyand's hernia, a rare entity in the surgical pathology, presupposes the presence of the vermiform appendix inside a inguinal hernia sac (1). The hernia sac peritonitis by appendix swelling is even more rare, very few cases being presented in the surgical literature (1). The preoperatory diagnosis of Amyand's hernia is therefore very difficult. We herein present the case of a 71-year old male patient, operated on an emergency basis for hernia, which eventually turned out to be Amyand's hernia, a case which determined us to research the literature dedicated to this topic.

[A rare cause of pneumoperitoneum]. / Pneumoperitoneu de cauza rara.

We provide the description of a 77 year old patient, admitted into the IC unit, with whom the surgical intervention was required by the presence of a massive pneumoperitoneum observed during abdominal CT. Anamnestic and clinical information was scarce; the patient had been admitted into the gastroenterology unit with the following diagnosis: acute pancreatitis, renal failure, atrioventricular block, while the hemodynamic instability made hospitalisation into the IC unit mandatory. Anatomopathological lesions secondary to a major vascular damage at the level of the celiac trunk and at the superior mesenteric level were noticed intraoperatively: total gastric necrosis with perforation, splenic infarction, entero-mesenteric infarction, abdominal wall necrosis. The patient did not allow for a surgical solution. The anatomopathological examination of the gastric tissue fragment enabled the diagnosis of extensive gangrene of the gastric wall. The relevance of the case consists in the presence of an abdominal vascular damage detected in full development, where the pneumoperitoneum required surgical exploration. The intricacy of the anatomopathological lesions accounts for the acute painful abdominal onset, accompanied by quick hemodynamic, clinical, and biochemical deterioration. Thus, gastric perforation through rupture secondary to total gastric gangrene of vascular origin joins the many causes of pneumoperitoneum.

[Retroperitoneal tumor]. / Tumora retroperitoneala (lipofibrom).

This paper presents the case of a 69 year old patient who has a benign retroperitoneal tumor (lipofibroma) presenting differential diagnosis problems (in special preoperative one, and intraoperative technique difficulties, revealing the fact that, in this case, paraclinical investigations have an orientative value, without offering etiologic information, and do not allow a clear preoperative strategy. Tumor resection was performed under an intraoperative histologically diagnosis of lipofibroma of the retroperitoneal region. Postoperative evolution was good.

[Gastric schwannoma ]. / Schwanom gastric.

The article presents the case study of a 78-year-old , female patient with a gastric schwannoma, with the symptoms of a superior digestive hemorrhage and secondary anemia. A surgical operation was performed and the patient was healed. The preoperative diagnosis carried out by means of echographic, endoscopic and computed tomography examinations was gastric tumour. Histopatological examination performed during the operation led to the final diagnosis of gastric schwannoma.

[Recurrent dermatofibrosarcoma protuberans]. / Dermatofibrosarcom protuberans recidivans.

The present paper tends to emphases by one hand the necessity of the histological examination, as a routine exam, on every surgical procedure, even minor ones, and by the other hand, the difficulties of the differential diagnostic, including by histological means, in lesser importance lesions. In this line we will present the case of female patient who had a lesion labeled as a postoperative granuloma and it proved to be a malignant neoplasia.

[Retroperitoneal appendicular abscess]. / Abcesul retroperitoneal de cauza apendiculara.

This article presents a 28 years old male patient case with a retroperitoneal collection of apendicular origin. After few comments about clinical and paraclinical aspects, the authors emphasise the particular aspects of differential diagnosis and surgical approach which, finally, lead to a full recovery of the patient.

The diagnostic and prognostic value of HLA B 35 antigen in viral subacute thyroiditis.

HLA B 35 antigen was assessed in 19 patients with viral subacute thyroiditis. The antigen was present in 68.43% of patients (no = 13). The relative risk (vs 500 health blood donors) is very high (12.27), with X2 = 33.4 and p less than 0.001. Despite the high relative risk, the presence/absence of HLA B 35 antigen showed no correlations with the main clinical features in our patients; no correlations can be made for: erythrocyte sedimentation rate, radioiodine uptake, thyromegaly, hyperthyroidism and evolution.