Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.     

Rectum Sarcoma: Challenging Diagnostic and Therapeutic Modalities

Introduction

Sarcomas are malignant tumors that arise from mesenchymal tissue at any of the body sites. They incorporate the wide category of GISTs and are classified in various histological types. Histological grading is another indicator of the degree of malignancy, the probability of distant metastases, and survival but remains a poor definition of local recurrence.

Discussion

The size and depth of invasion are the most important prognostic factors. Since they grow within the intestinal wall, the symptoms are usually few or late, leading to delays in diagnosis. Most common signs are rectal bleeding, abdominal or anal pain, diarrhea, tenesmus and weight loss. The diagnostic and staging protocol of stromal tumors of the rectum includes mainly endoscopic surveillance, computed tomography, and magnetic resonance imaging. Therefore, rectum sarcoma (RS) consists one of the most biologically virulent cancers and is difficult to cure by conventional procedures. The treatment is primarily surgical, where possible, and should guarantee complete clearance of the tumor, which often requires an aggressive approach. Unfortunately, the minority of patients is eligible to undergo surgical intervention. In addition, surgical removal of RS does not necessarily indicate a patient's long-term recovery. Alternative therapies, such as radio- and chemotherapy, proved insufficient. Elucidation of its molecular basis may prove useful in developing and identifying prognostic biomarkers.     

Controversies and Challenging Therapeutic Modalities in Gastric Cancer

Gastric cancer is still the fourth common neoplasm worldwide. Gastric ulcers, adenomatous polyps, and intestinal metaplasia have been associated with an increased relative risk. Tissue diagnosis and anatomic localization of the primary tumor are best obtained by upper gastrointestinal endoscopy. Despite new screening techniques peritoneal tumor spread and occult liver and lymph node metastases are only detected intra-operatively. Therapy is becoming more and more complex comprising surgical resection, investigational neoadjuvant, adjuvant or palliative chemotherapy, or supportive care. Complete surgical eradication of a tumor with resection of adjacent lymph nodes represents the best chance for long-term survival. The choice of operation depends upon the location of the tumor, the clinical stage, and the histologic type. Chemotherapy can provide symptom palliation, improve quality of life, and prolong survival in patients with advanced gastric cancer. Preoperative radiation therapy may allow for tumor downstaging and reduced probability of residual microscopic disease at surgery.     

The role of the non-smoker in enforcing smoke-free laws

Compliance with laws making certain environments smoke free has focused mainly on smokers' behavior, while the role of non-smokers has scarcely been investigated. Our cross-sectional study interviewed 4043 adults (2037 smokers and 2006 non-smokers) in the general population of Greece during April 2009. Non-smokers reported that they would actively work for compliance with the law. The non-smokers were older, more educated (odds ratio, OR 1.4), and were more likely to be annoyed by the smell of environmental tobacco smoke (OR 2.4) or report that it irritates their eyes (OR 1.8). Policymakers should evaluate how non-smokers could actively support smoke-free laws through reporting of violations using media campaigns that inform them of their rights, and other measures.     

Transient decrease in serum albumin concentrations in epileptic children treated with sodium valproate monotherapy

OBJECTIVE: Hypoalbuminemia has been reported in patients with severe disability and epilepsy and in patients with epilepsy treated with short-term sodium valproate (VPA) therapy; however, serum albumin concentrations have not previously been determined in otherwise healthy patients with epilepsy and receiving long-term VPA monotherapy. METHODS: Serum albumin concentrations were determined in 26 ambulatory children with epilepsy before and at 6, 12, and 24 months of VPA monotherapy. Serum total protein concentrations and serum concentrations of other biochemical markers of liver and renal function such as alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltransferase, and creatinine concentration were also measured in the study participants before and at 6, 12, and 24 months of treatment. RESULTS: Serum albumin concentrations were reduced at 6 months of treatment (P = 0.007). Serum alanine aminotransferase concentrations were significantly increased at 6 (P = 0.034) and 12 months of treatment (P = 0.046), whereas serum aspartate aminotransferase concentrations were significantly increased at 6 (P = 0.002) and 12 months of treatment (P = 0.002). There were no significant correlations between serum albumin and the other parameters at 6 months of treatment. CONCLUSIONS: Ambulatory children who receive VPA monotherapy may have early but transient decrease in serum albumin concentrations. Further studies are needed to address this issue and to determine the possible clinical implications and the mechanisms involved in VPA-mediated decrease in serum albumin concentrations.     

A case of severe sinus bradycardia complicating anicteric leptospirosis

A potential complication of leptospirosis is cardiovascular involvement. Electrocardiographic abnormalities are frequent. Leptospirosis has been reported to be one of the infectious causes of relative bradycardia, but severe absolute sinus bradycardia has been rarely described as a potential electrocardiographic alteration. We present a case of marked sinus bradycardia (35 bpm) lasting for 4 days in a patient with anicteric leptospirosis and relative bradycardia on admission. Heart rate resolved spontaneously after control of infection by appropriate antibiotic therapy. This case points toward the need for close monitoring of vital signs and electrocardiogram in leptospirosis, especially when relative bradycardia is present on admission.     

RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea

The trace element selenium is found in proteins as selenocysteine (Sec), the 21st amino acid to participate in ribosome-mediated translation. The substrate for ribosomal protein synthesis is selenocysteinyl-tRNA(Sec). Its biosynthesis from seryl-tRNA(Sec) has been established for bacteria, but the mechanism of conversion from Ser-tRNA(Sec) remained unresolved for archaea and eukarya. Here, we provide evidence for a different route present in these domains of life that requires the tRNA(Sec)-dependent conversion of O-phosphoserine (Sep) to Sec. In this two-step pathway, O-phosphoseryl-tRNA(Sec) kinase (PSTK) converts Ser-tRNA(Sec) to Sep-tRNA(Sec). This misacylated tRNA is the obligatory precursor for a Sep-tRNA:Sec-tRNA synthase (SepSecS); this protein was previously annotated as SLA/LP. The human and archaeal SepSecS genes complement in vivo an Escherichia coli Sec synthase (SelA) deletion strain. Furthermore, purified recombinant SepSecS converts Sep-tRNA(Sec) into Sec-tRNA(Sec) in vitro in the presence of sodium selenite and purified recombinant E. coli selenophosphate synthetase (SelD). Phylogenetic arguments suggest that Sec decoding was present in the last universal common ancestor. SepSecS and PSTK coevolved with the archaeal and eukaryotic lineages, but the history of PSTK is marked by several horizontal gene transfer events, including transfer to non-Sec-decoding Cyanobacteria and fungi.     

Cysteinyl-tRNA synthetase is not essential for viability of the archaeon Methanococcus maripaludis

The methanogenic archaea Methanocaldococcus jannaschii and Methanothermobacter thermautotrophicus contain a dual-specificity prolyl-tRNA synthetase (ProCysRS) that accurately forms both prolyl-tRNA (Pro-tRNA) and cysteinyl-tRNA (Cys-tRNA) suitable for in vivo translation. This intriguing enzyme may even perform its dual role in organisms that possess a canonical single-specificity cysteinyl-tRNA synthetase (CysRS), raising the question as to whether this latter aminoacyl-tRNA synthetase is indeed required for cell viability. To test the postulate that all synthetase genes are essential, we disrupted the cysS gene (encoding CysRS) of Methanococcus maripaludis. The knockout strain was viable under normal growth conditions. Biochemical analysis showed that the pure M. maripaludis ProCysRS was capable of forming Cys-tRNA, implying that the dual-specificity enzyme compensates in vivo for the loss of CysRS. The canonical CysRS has a higher affinity for cysteine than ProCysRS, a reason why M. maripaludis may have acquired cysS by a late lateral gene transfer. These data challenge the notion that all twenty aminoacyl-tRNA synthetases are essential for the viability of a cell.     

Inflammatory infiltration of metaplastic epithelium and correlation to previous diagnosis of esophagitis and Barrett's length

Abstract Objective. The contact of the gastric refluxate with the lower esophagus results in an inflammatory-mediated tissue damage. The role of inflammation both in the development and in the advance of Barrett's esophagus (BE) has not been elucidated. The aim of this study was to assess the inflammatory infiltration in metaplastic Barrett's epithelium and to explore the association of microscopic inflammation to healed esophagitis and Barrett's length. Material and methods. Inflammatory infiltration was qualitatively evaluated in well-characterized Barrett's specimens. Esophagitis was healed prior to histological sampling. Univariate comparative analysis was performed based on BE length. Results. Ninety-eight patients (78 male, mean age 58.3 ± 13.3 yrs) were retrospectively studied. Thirty-three cases with long segment BE (LSBE) (33.7%) were spotted. Inflammatory infiltration was mild, moderate, and severe in 35 (35.7%), 54 (55.1%), and 9 (9.1%) specimens, respectively. The samples with moderate/severe inflammatory infiltration were obtained from patients who had more frequently been diagnosed with esophagitis (p = 0.025). Hiatal hernia (p = 0.001), esophagitis (p = 0.019), and previous use of anti-secretory drugs (p = 0.005) were more common in LSBE. Conclusions. Inflammatory infiltration of Barrett's epithelium was largely moderate despite preceding healing of erosions with PPIs. Previous diagnosis of esophagitis correlated to the degree of inflammation. No association of inflammation to Barrett's length was established.