A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

BACKGROUND: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement. CASE PRESENTATION: We report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL. CONCLUSIONS: Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.

Phylogenomic Analysis Identifies a Sodium-Translocating Decarboxylating Oxidoreductase in Thermotogae.

Bacterial sodium-dependent decarboxylases were the first enzymes exemplifying sodium-dependent bioenergetics. These enzyme complexes couple decarboxylation of organic acids with the export of sodium ions via a special membrane subunit. In 711 representative prokaryotic genomes, we have analyzed genomic neighborhoods of the genes that code the membrane subunit of sodium decarboxylases. In representatives of Thermotogae, the operons with the gene of this subunit lack the genes of subunits that perform non-oxidative decarboxylation. Instead, these operons contain the genes of alpha- and delta-subunits of decarboxylating oxidoreductases of alpha-ketoacids. The genes of beta- and gamma-subunits of the decarboxylating oxidoreductases were found within the genomes of respective Thermotogae species as separate, two-gene operons. We suggest that the described two operons code together for sodium-translocating decarboxylating oxidoreductases capable of coupling oxidative decarboxylation of alpha-ketoacids with the export of sodium ions, which is a novel type of bioenergetic coupling.

[Growing teratoma syndrome in a patient with intracranial germ cell tumor].

A six-year-old patient with non-germinomatous germ cell tumor of the chiasmatic-sellar area developed polyuria and polydipsia as the first symptoms of the disease. Then there were signs of precocious puberty and vision impairment. MRI examination revealed a shiasmatic sellar tumor and occlusive hydrocephalus. Tumor marker levels in blood serum were elevated. The alpha-fetoprotein level was increased 5-fold; human chorionic gonadotropin 20-fold. These levels increased over time. The patient received 2 cycles of PEI multiagent chemotherapy (Ifosfamide 1.5 g/m(2), Cisplatin 20 mg/m(2), Etoposide 100 mg/m(2)) during 5 days and 1 cycle of second-line multiagent chemotherapy (Cisplatin 100 mg/m(2) for 1 day and Endoxan 1500 mg/m(2) for 2 days). Despite the decrease in tumor marker levels to normal values, the patient's vision still deteriorated. MRI examination revealed that tumor size increased and its structure changed. Total tumor resection led to vision improvement and regression of intracranial hypertension. Histological analysis of tumor tissue only revealed a mature teratoma. This phenomenon, known as growing teratoma syndrome, is very rare among patients with intracranial non-germinomatous germ cell tumors.

[Experience of using neuroendoscopy in treatment of noncommunicating hydrocephalus in infants].

320 children were operated on for occlusive hydrocephalus for 10 years (2003-2012). Infant patients amounted to 93.4%, of these newborns were 29.2%. An endoscopic technique was used to restore physiological liquor circulation and compensate for hydrocephalus without shunt implantation. The positive outcome was observed in 75% of cases. Occlusion of the subarachnoid space occurred in the other cases, which required a combination of neuroendoscopic intervention and shunt implantation. There were no complications and mortality associated with an operative trauma.

Acid extraction to a hydrophobic ionic liquid: the role of added tributylphosphate investigated by experiments and simulations.

We have studied the extraction of four HA acids (HNO(3), HReO(4), HClO(4), HCl) to a hydrophobic ionic liquid (IL) 1-butyl-3-methylimidazolium-bis(trifluoromethanesulfonyl)amide (BMI(+) Tf(2)N(-)) at room temperature, in a wide range of acidic concentrations in water. The effect of tributylphosphate (TBP) as co-solvent is investigated. According to experimental observations, water dragging to the IL phase increases with added TBP and/or acids. Acid extraction is found to be weak, however, for the four acids except for concentrated HNO(3) (>3 M). Molecular dynamics simulations on model biphasic systems show that TBP is not surface active, but well dissolved in the IL. They also reveal the importance of HA acid model (either totally or half dissociated) and of the TBP content on acid extraction to the IL. Furthermore, they show that "the proton" can be extracted by TBP (H(3)O(+)(TBP)(3)"complex") without its A(-) conjugated base, via a cation transfer mechanism (BMI(+) transfer to water). Experiments and simulations show that TBP plays an important role in the mutual solubility between water and ionic liquid, by different amounts, depending on the HA acid. On the other hand, both approaches indicate that a HTf(2)N containing aqueous solution completely mixes with the [BMI][Tf(2)N] IL that contains the same Tf(2)N(-) anion.

[Mapping of the motor-sensory cortex by functional magnetic resonance tomography in frontoparietal tumors]. / Kartirovanie motorno-sensornoi kory golovnogo mozga metodom funktsional'noi magnito-rezonansnoi tomografii pri opukholiakh lobno-temennoi oblasti.

The potentialities of functional magnetic resonance imaging (FM-RI) in the preoperative mapping of the motor-sensory cortex of the brain in 24 patients with frontoparietal tumors and 5 healthy volunteers were studied. A good reproducibility of results was achieved while using a simple irritation paradigm as finger flexion-extension. The obtained activation maps were projected to the region of anterior and posterior central gyri and to the central sulcus. Imposition of the maps of motor-sensory cortical activation with routine T1-weighed images allows a surgeon to gain an insight into the mutual location of a tumor and a functionally significant portion of the cortex, by reducing the intraoperative risk of damage to this area. The intraoperative determination of the central sulcus by the evoked potential method in 4 patients confirmed the results obtained after FMRI. The relationship of the obtained activation maps to the presence of venous structures in the area concerned requires further studies on the modes of clarifying the site of functionally significant cortical areas in the brain.

[The computed and magnetic resonance tomographic anatomy of the normal hippocampal area and in neurosurgical pathology]. / Komp'iuterno- i magnitno-rezonansno-tomograficheskaia anatomiia oblasti gippokampa v norme i pri neirokhirurgicheskoi patologii.

To make a correct diagnosis, a volumetric presentation of the anatomy of perihippocampal fluid spaces (PHFS) may be useful if there are abnormalities in the medial portion of the temporal region. Pathological processes in the region result in changes in the normal anatomy of PHFS. Hippocampal atrophy accompanied by enlarged PHFS is a sign of Alzheimer's disease (1081 patients). These changes are best detected on frontal MR images, but they can be seen at routine CT study. Hydrocephalus (88 patients) is characterized by dilatation of the lower horn of the lateral ventricles without increased dimensions of the transverse fissure. Normotensive hydrocephalus and Alzheimer's disease may be differentiated in evaluating the PHFS. The understanding of the anatomy of PHFS is useful in making a better assessment of the degree of both intra- and extracerebral tumors (in 296 patients) and arterioventricular malformations (in 12 patients) in the medial portions of the temporal regions.