Search

In its deprotonated form, the ligand N,N′-bis[2-(2-pyridyl)methyl]pyridine-2,6-dicarboxamide (MePy3PH2, where the Hs represent the dissociable amide nitrogens) coordinates to Cu(II) as one strand of a short double helix. The crystal structure of the title complex, bis-(MePy3P)dicopper(II) [Cu2(MePy3P)2], has been determined. The binuclear structure of [Cu2(MePy3P)2] is in contrast to the monomeric Cu(II) complex [Cu(Py3P)] in which the ligand N,N′-bis[2-(2-pyridyl)ethyl]pyridine-2,6-dicarboxamide (Py3PH2) differs from MePy3PH2 by only a single methylene linker. The helical structure of [Cu2(MePy3P)2] has now been added to the rapidly growing number of spontaneously forming helical assemblies, for which crystal structures have been determined.

The small organic molecule pyridine-2,6-dicarboxamide, although known in the literature for some time, exhibits interesting and previously unexplored intermolecular and intramolecular hydrogen bonding both in solid state and in solution. With the aid of X-ray crystallography and variable-temperature NMR spectroscopy, we here demonstrate the presence of a very strong hydrogen bonding network for this molecule both in condensed state and solution. Furthermore, a novel extended hydrogen bonding graph-set has been derived for this molecule in crystalline state. Comparison of pyridine-2,6-dicarboxamide with 1,3-benzenedicarboxamide, where the intramolecular hydrogen bonding to the pyridine ring in the former has been removed, yields a different intermolecular hydrogen bonded structure in the solid state. A new graph-set has been determined for the extended structure of 1,3-benzenedicarboxamide in the solid state. In solution, 1,3-benzenedicarboxamide is shown to maintain a hydrogen bonding pattern that is weaker than that observed with pyridine-2,6-dicarboxamide. Replacement of one hydrogen on each carboxamide nitrogen of pyridine-2,6-dicarboxamide by a methyl group also alters the extended structure to a significant extent. In N , N ′-dimethyl-2,6-pyridinedicarboxamide, the three-dimensional hydrogen bonding pattern observed with pyridine-2,6-dicarboxamide all but collapses to one-dimensional chains.

As part of our continuing effort to develop the chemistry of iron(III) complexes of ligands that employ carboxamido nitrogens to bind the metal center, we have synthesized the designed ligand N,N′-bis(2-hydroxyphenyl)pyridine-2,6-dicarboxamide (POPYH4, Hs are dissociable phenolic and carboxamido hydrogens). Reactions of the completely deprotonated POPY4− with certain iron(III) starting materials in DMF afford pentagonal bipyramidal complexes of the type [Fe(POPY)X2]n− (X=1-MeIm, SCN−), in which the pentadentate POPY4− ligand occupies the equatorial plane. When smaller amounts of base are used, the partially deprotonated POPYH2 2− ligand gives rise to the tetrahedral bis complex [Fe(POPYH2)2]− in which only the phenolic oxygens of the ligand are bound to iron(III). With [Fe2OCl6]2−, one obtains [Fe(POPYH2)(Cl)]2O, a new species that contains a (μ-oxo)diiron(III) core. Here also, POPYH2 2− employs the phenolic oxygens to bind iron and acts as a bidentate ligand. The structures of these complexes have been determined by X-ray crystallography. The conditions for interconversions among the four complexes have also been elucidated. Both [Fe(POPY)X2]n− complexes with coordinated carboxamido nitrogens are stable in air and in aqueous solution. The redox properties of these species indicate that ligated carboxamido nitrogens provide enhanced stability to iron(III) centers.

Although coordination of carboxamido nitrogen to Fe(III) center has been assumed to be improbable, research work during the past few years has demonstrated that Fe(III) complexes with ligated carboxamido nitrogens can be readily synthesized. The Fe(III)–Namido bond distances lie in the range of 1.8–2.2 A in the various low spin and high spin Fe(III) complexes. These complexes are stable in aqueous media and their redox parameters indicate that the carboxamido nitrogens provide significant stability to the Fe(III) center.

Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity.

Mutations of the COCH gene inherited in an autosomal dominant mode are responsible for late-onset cochleovestibular impairment on both sides. Our objective is to report the youngest patient (3 years) associating a molecular variant of the COCH gene and a cochleovestibular impairment on both sides. The clinical sequence has started with a vestibular dysfunction in a two-year-old child: recurrent rotatory dizziness during 12 months. At the age of 3, a sensorineural hearing loss on both sides has occured associated with spontaneous variation during 6 months. The lack of mutation of the connexin 26, connexin 30 and pendrin genes has reorientated the genetic investigation. A molecular variant of the COCH gene was found in the vWFA2 domain. It was an in-frame deletion predicting the synthesis of an abnormal protein in which 21 aminoacid were missing. Others family members with mutation were asymptomatics. In this isolated case report, the study was in favor of a non pathogenic molecular variant of the COCH gene. For all that, mutations of the COCH gene could be searched in progressive cochleovestibular dysfunctions on both sides in children, even without family affect.

Cribriform neuroepithelial tumor (CRINET) is a recently recognized central nervous system neoplasm that arises in the ventricles of young children and is characterized by primitive, non-rhabdoid SMARCB1-deficient cells with prominent cribriform architecture. We report a 14-month-old male who presented with signs of increased intracranial pressure. Neuroimaging revealed a large solid and cystic mass in the lateral ventricle. Tumor cells were small, primitive appearing, and arranged in cribriform and trabecular patterns with interspersed solid cellular areas. Rhabdoid cells were absent. Immunohistochemical staining showed no SMARCB1 (INI11, BAF47, hSNF5) expression and strong epithelial membrane antigen (EMA) immunoreactivity along luminal surfaces. Electron microscopy showed epithelial characteristics, including abundant basal lamina. Genetic analysis of the tumor revealed deletion of 1 SMARCB1 allele, while the other contained an intronic point mutation predicted to disrupt splicing. This case further illustrates the distinct histopathologic and molecular genetic features of CRINET and identifies distinctive ultrastructural features.

Resume La surdite de l’enfant est le deficit sensoriel le plus frequent. Un enfant sur 700 nait sourd profond ou severe ou developpera une surdite importante avant l’âge adulte. Les avancees de la science permettent actuellement de penser que la plupart des deficits auditifs sont d’origine genetique. De nombreux tests genetiques sont actuellement disponibles, et une enquete etiologique peu d’ores et deja etre proposee aux familles. Nous essayerons dans cet article de repondre a differentes questions inherentes a ces progres scientifiques : recherche de la cause de la surdite : pourquoi, quand et pour qui ?

Optimal medical therapy for symptomatic intracranial stenosis includes antiplatelet therapy and aggressive management of atherosclerotic medical conditions such as diabetes, hypertension, hyperlipidemia, and cigarette smoking. Systemic anticoagulation is not indicated. Two ongoing clinical trials are currently comparing angioplasty and stenting to medical management; the first report of one of these trials, SAMMPRIS, indicated that medical treatment may be superior to angioplasty and stenting. Angioplasty and stenting should be used with caution and be reserved for patients who remain actively symptomatic despite medical therapy.

Hearing loss is the most common sensory disability with an incidence of one over 1000 newborns. Hearing loss may be caused by environmental and genetic factors; inherited causes are assumed in two thirds of cases. There is a great clinical and genetic heterogenicity. All inheritance modes have been described. Mutations in the GJB2 gene, which encodes connexin 26, are mainly responsible for sensorineural deafness resulting in prelingual non syndromic autosomal recessive phenotypes DFNB1. The 35 delG mutation of this gene is very frequent (70% of the cases). Thus, 35 delG is, with the delta F508 mutation of the CFTR gene, the most frequent human pathogenic mutation known. Hearing loss might also be associated with other clinical features. Some of these syndromes, including hearing loss, have to be looked for systematically because of their frequency, of their possible clinical presentation as an isolated hearing loss and of the possibility of a medical treatment.

To evaluate the management of prenatally diagnosed cleft lip with or without cleft palate and the immediate postnatal outcome.Retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between January 2005 and January 2011. The anatomical type of cleft, associated malformations, and the postnatal outcome were reviewed.Forty-three cases of fetal cleft lip with or without cleft palate were reviewed. The mean gestational age at diagnosis was 24 weeks ± 4. The postnatal distribution of clefts was: 30 cleft lip and palate (70%) and 13 cleft lip (30%). The prenatal diagnosis of the cleft type was exact in 27 cases (62.8%). Nine cases had associated anomalies (21%), detected prenatally in three cases (37.5%). There was no karyotypical abnormality. Six pregnancies were terminated (14%). The immediate postnatal outcome was comparable with unselected newborns.The prenatal diagnosis of cleft lip with or without cleft palate is correct, with two thirds of exact diagnoses. Large clefts palate are the best detected. Associated malformations cannot always be diagnosed by prenatal ultrasound, but have to be searched for because they modify the fetal outcome.

1. Responses of complex cells in cat striate cortex were studied with flashed light slit stimuli. The responses to slits flashed in different positions in the receptive field were assessed quantitatively before and after periods of prolonged stimulation of one small region of the receptive field. This type of prolonged stimulation resulted in reduced responsivity over a limited zone within the complex cell receptive field. 2. The adaptation-induced responsivity decrement was generally observed in both the ON and OFF response profiles but could also be restricted to one or the other. In general, the magnitude of the response decrements was greatest in the ON response profiles. The adaptation-induced response decrement did not necessarily spread throughout the receptive field but was restricted to a small region surrounding the adapted receptive field position (RFP). Adaptation spread equally widely across the ON and OFF response profiles despite the smaller adaptation effects in the OFF profile. 3. The adaptation effects from repeated stimulation at a single RFP did not spread symmetrically across the receptive field, and a given cell's preferred direction of motion indicated the direction of the asymmetric spread of the adaptation. RFPs that would be stimulated by a light slit originating at the point of adaptation and moving in the preferred direction (preferred side) showed greater adaptation-induced response decrements than did RFPs that would be stimulated by a light slit moving in the opposite direction from the point of adaptation (nonpreferred side). There was significant enhancement of responses at some RFPs on the non-preferred side of the point of adaptation. This asymmetric spread of adaptation could be caused by adaptation of inhibitory connections that contribute to complex cell direction selectivity. 4. The asymmetry of adaptation was significantly different for the ON and OFF response profiles. The asymmetric spread of adaptation for the ON response profile was similar to that observed previously in simple cells with greater decrements in the preferred direction side of the point of adaptation. However, the OFF response profiles showed less directional asymmetry in the spread of adaptation and showed greater decrements at RFPs in the nonpreferred direction side of the point of adaptation. 5. The similarity between the spread of adaptation in simple and complex cells suggests that the adaptation in these cells is occurring through a common mechanism. The directional asymmetry of the spread of adaptation is likely due to a local postsynaptic mechanism of adaptation rather than presynaptic transmitter depletion.

Shunt infections are most common within the first 6 months following implantation. A shunt infection 19 years after implantation secondary to uterine ablation has not been reported to our knowledge. Office hysteroscopic procedures have become commonplace in gynecologic practice. Infectious complication rates are low, but peritonitis has been described. We present a patient with a ventriculoperitoneal shunt infection following a uterine ablation for dysfunctional uterine bleeding. Three days following the ablation she developed abdominal pain. CT scan of the abdomen 5 months after the procedure revealed a pseudocyst. She then underwent removal of her shunt with intra-operative cultures revealing Streptococcus agalactiae. Definitive treatment consisted of shunt explantation and antibiotic treatment with complete resolution of her pain and pseudocyst. Consideration for prophylactic antibiotics should be made when a patient with a ventriculoperitoneal shunt undergoes any transvaginal procedure.

Carcinoma metastatic to the prostate occurs rarely and is most commonly associated with malignant bladder neoplasms. We present the case of a 73-year-old male with a history of gastroesophageal adenocarcinoma and clinically symptomatic benign prostatic hyperplasia who underwent photoselective vaporization of the prostate and presented several months later with gross hematuria, intermittent urinary retention and bilateral ureteral obstruction causing acute renal failure. After relieving the ureteral obstruction, subsequent transurethral resection of the prostate revealed locally invasive metastatic esophageal adenocarcinoma. To our knowledge, this is the first reported case of metastatic gastroesophageal carcinoma to the prostate.

This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used.

Materials and methods Retrospective chart review was conducted on normal pressure hydrocephalus patients who received prospective evaluation at an adult hydrocephalus center and underwent ventriculoperitoneal or ventriculoatrial shunting with either Delta 1 (n = 140) or Orbis Sigma (n = 55) valves between September 1999 and June 2007. All patients received treatment and follow-up from a single surgeon. Time until first revision, time until first subdural hematoma requiring intervention, death – confirmed by the social security death index – and clinical outcome were assessed.

Two nonmacrocyclic ligands with pyridine and carboxamide nitrogens as donors readily form bis complexes of the type [FeIIIL2]+ in which the Fe(III) centers exhibit preference for coordination to carboxamido nitrogens over pyridine nitrogens. These Fe(III) complexes with deprotonated carboxamido nitrogens are very stable in water.

International audience; Two alloys of composition Al59Cu25.5Fe12.4B3 and Al71Cu9.7Fe8.7Cr10.6 were characterized by X-ray diffraction, transmission electron microscopy and scanning electron microscopy. The latter forms a mixture of imperfect icosahedral phase and cubic phase upon rapid solidification from the liquid state. After heat treatment, this alloy transforms into a decagonal quasicrystalline phase. Both alloys can be used as catalysts precursors and transformed into active metallic phases after alkali leaching with a NaOH solution. These catalysts were used for hydrogen production by steam reforming of methanol between 473 and 773 K. The catalytic activities of these treated alloys were compared to that of a reference Cu/ZnO/Al2O3 catalyst. Quasicrystal derived catalysts showed a high catalytic activity for the production of hydrogen.

Background: Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. Objective: To describe an efficient protocol which has identified the mutated gene in more than 90% of a cohort of patients currently living in France. Results: The five genes currently known to cause USH1 ( MYO7A , USH1C , CDH23 , PCDH15 , and USH1G ) were tested for. Disease causing mutations were identified in 31 of the 34 families referred: 17 in MYO7A , 6 in CDH23 , 6 in PCDH15 , and 2 in USH1C . As mutations in genes other than myosin VIIA form nearly 50% of the total, this shows that a comprehensive approach to sequencing is required. Twenty nine of the 46 identified mutations were novel. In view of the complexity of the genes involved, and to minimise sequencing, a protocol for efficient testing of samples was developed. This includes a preliminary linkage and haplotype analysis to indicate which genes to target. It proved very useful and demonstrated consanguinity in several unsuspected cases. In contrast to CDH23 and PCDH15 , where most of the changes are truncating mutations, myosin VIIA has both nonsense and missense mutations. Methods for deciding whether a missense mutation is pathogenic are discussed. Conclusions: Diagnostic testing for USH1 is feasible with a high rate of detection and can be made more efficient by selecting a candidate gene by preliminary linkage and haplotype analysis.

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred's syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.

Three iron complexes of a pentadentate ligand N,N-bis(2-pyridylmethyl)amine-N-ethyl-2-pyridine-2-carboxamide (PaPy(3)H, H is the dissociable amide proton) have been synthesized. All three species, namely, two nitrosyls [(PaPy(3))Fe(NO)](ClO(4))(2) (2) and [(PaPy(3))Fe(NO)](ClO(4)) (3) and one nitro complex [(PaPy(3))Fe(NO(2))](ClO(4)) (4), have been structurally characterized. These complexes provide the opportunity to compare the structural and spectral properties of a set of isostructural [Fe-NO](6,7) complexes (2 and 3, respectively) and an analogous genuine Fe(III) complex with an "innocent" sixth ligand ([(PaPy(3))Fe(NO(2))](ClO(4)), 4). The most striking difference in the structural features of 2 and 3 is the Fe-N-O angle (Fe-N-O = 173.1(2) degrees in the case of 2 and 141.29(15) degrees in the case of 3). The clean (1)H NMR spectrum of 2 in CD(3)CN reveals its S = 0 ground state and confirms its [Fe-NO](6) configuration. The binding of NO at the non-heme iron center in 2 is completely reversible and the bound NO is photolabile. Mossbauer data, electron paramagnetic resonance signal at g approximately 2.00, and variable temperature magnetic susceptibility measurements indicate the S = (1)/(2) spin state of the [Fe-NO](7) complex 3. Analysis of the spectroscopic data suggests Fe(II)-NO(+) and Fe(II)-NO(*) formulations for 2 and 3, respectively. The bound NO in 3 does not show any photolability. However, in MeCN solution, it reacts rapidly with dioxygen to afford the nitro complex 4, which has also been synthesized independently from [(PaPy(3))Fe(MeCN)](2+) and NO(2)(-). Nucleophilic attack of hydroxide ion to the N atom of the NO ligand in 2 in MeCN in the dark gives rise to 4 in high yield.

In recent years, iron complexes of designed ligands have been synthesized as mimics of the active sites of the various non-heme iron enzymes. The reactions of these model complexes have been studied to establish the mechanisms of the enzymatic reactions as well as the identities of the intermediates involved in the biocatalytic processes. The ultimate goal in these endeavors is to isolate functional mimics that could be employed in biomimetic catalysis under mild conditions. This review provides key references to the burgeoning literature on the results of research performed by various groups in the area of oxygen activation, oxygenation of organic substrates, amide hydrolysis, and other useful chemical transformations. Examples of good structural and functional models have been included along with brief descriptions of the enzymes. The role of the coordination spheres of the iron centers and the nature of the key iron-peroxo and/or hypervalent iron-oxo intermediates have been discussed. Results of the attempted catalysis by the functional model complexes have also been discussed to highlight the challenge involved in bio-inspired catalysis as well as the success of the modeling work completed so far. Keywords: non-heme iron enzymes; model complexes; functional mimics; oxygen activation; oxygenation; epoxidation; catalysis

Eight Cu(II) complexes with the [Cu(dmppy)] moiety (dmppyH(2) = tridentate ligand N,N'-dimethylpyridine-2,6-dicarboxamide; H's are dissociable amide protons) and ligands like pyridine, water, N-methylimidazole, substituted and unsubstituted o-phenanthroline, and bipyridine have been isolated and structurally characterized. The basal angles of these structurally related five-coordinate Cu(II) complexes (and two previously reported ones) correlate well with the EPR hyperfine splitting parameter A( parallel). However, the values of the parameter tau which provides a measure of the degree of square pyramid versus trigonal bipyramid geometry adopted by these complexes do not correlate linearly with the A( parallel) values. It is evident that out-of-plane distortions and ligand strain make calculation of tau inconsistent in certain sets of five-coordinate Cu(II) complexes. Structure-spectroscopy correlation involving tau is not feasible in such cases.

Deafness is the most common sensory defect. The investigation of the cause of deafness is critical for genetic counselling, and sometimes for appropriate management of associated pathologies. About two thirds of cases of congenital deafness are genetic forms, and the proportion is probably similar concerning the forms of deafness that appears during childhood. Some of the genetic forms are syndromic and the associated signs are sometimes inapparent or may appear during childhood. Consequently, a systematic search for the most frequent syndromes is necessary in each deaf individual. In the majority of genetic cases, deafness is the sole defect (non-syndromic deafness) and the major mode of transmission is autosomal recessive. The DFNB1 form of deafness, due to connexin 26 gene mutations, underlies half of the cases of non syndromic congenital deafness cases. The hearing loss has a prelingual onset, and it is most frequently severe or profound. There is no associated pathologies or radiological anomalies of the inner ear, and the vestibular tests are normal. The possibility of offering molecular diagnosis of connexin 26 gene defects is profoundly modifying daily medical practice in the investigation of the cause of deafness.

From February 1996 to January 1997, 74 patients from 53 sibships underwent genetic counselling for sensorineural deafness at the Pasteur Hospital, Paris, France. Genetic counselling was based on the etiological diagnosis of the hearing impairment, by an audiological and non-audiological examination program. At the first examination, 31 families presented with a familial deafness and 22 families with apparently one affected individual. However, familial audiological examinations revealed familial deafness in 5 of these 22 families. Consequently, a total of 36 families had hereditary hearing impairment and the etiological groups showed the following distribution: non-syndromic deafness (14 families), syndromic deafness (12 families), probable syndromic deafness (5 families), and incomplete assessment (5 families). Out of the remaining 17 families in which affected individuals were sporadic cases, the etiological groups were as follows: acquired deafness (2 families), probable syndromic deafness (5 families), unknown cause (5 families), and incomplete assessment (5 families). Etiological assessment is discussed, with reference to the cost-effectiveness of this examination program. In light of this preliminary report, we present a model of assessment for the etiological diagnosis of sensorineural deafness in children and young adults.

Das Titelbild zeigt die Struktur eines paramagnetischen Dimangankomplexes, der an ein entferntes organisches Radikal gebunden ist. Die weit reichenden magnetischen Wechselwirkungen zwischen den beiden Zentren mit S=1/2 in diesem Komplex konnen als Modell einer ahnlichen Situation, die im S2Yz.-Zustand des Photosystems II (PSII) vorliegt, betrachtet werden. In ihrer Zuschrift auf Seite 4969 ff. erhellen D. S. Marlin, E. Bill und K. Wieghardt et al. die Natur dieser Wechselwirkung durch Verwendung von SQUID-Messungen und Zweikanal-X-Band-EPR-Spektroskopie. Eine der bemerkenswertesten Beobachtungen in solchen Zweikanal-EPR-Messungen ist die Identifizierung von gut aufgelosten „verbotenen“ Halbfeld-Multilinien-Signalen bei g=4, die von dipolaren Kopplungen herruhren. Letzteres konnte im Zusammenhang mit einem wenig verstandenen Signal bei g=4.1, das in verschiedenen EPR-Spektren des PSII auftritt, von Bedeutung sein.

We report a new case of Say-Meyer syndrome, a rare X-linked disorder characterized by metopic suture synostosis, a high-arched palate, short stature and delayed development. Proband was a nine-month-old boy admitted to our hospital for evaluation of failure to thrive and global developmental delay. Genetics evaluation revealed: marked growth failure; microcephaly; a closed anterior fontanelle; hypotelorism; esotropia; long eyelashes; a high, narrow palate; distal hypospadias. Neurologic examination demonstrated diffuse hypotonia, diminished deep tendon reflexes, and excessive head lag. A search of the London Dysmorphology and POSSUM databases suggested Say-Meyer syndrome as the unifying diagnosis. This infant's medical history was complicated by prematurity at 32 weeks gestation, postnatal supplemental oxygen requirement and abnormal heart sounds. Cardiac evaluation identified Ebstein anomaly of the tricuspid valve as the etiology of his cardiac problems requiring ongoing medical surveillance. Magnetic resonance imaging (MRI) of the brain revealed a decreased volume of white matter with associated atrophy. The brain stem was small. The corpus callosum was thin and the genu and rostrum were not visualized. Increased signal intensity in the periventricular regions suggested periventricular leukomalacia. The ventricles were enlarged. Skull radiographs showed a decreased interorbital distance and a sclerotic metopic suture. X-linked recessive inheritance has been described. The infant's mother attended special education classes. She had marked hypotelorism, a long face, a high-arched palate, and a thin body habitus. This case of Say-Meyer syndrome includes the first report of brain MRI findings and a previously unreported cardiac defect. Clinical features noted in the mother of this infant that suggest that Say-Meyer syndrome may be an X-linked dominant disorder with variable penetrance rather than an X-linked recessive disorder.

To investigate the relation between common acid-base parameters and blood lactate concentrations and their prognostic importance in sick, ventilated neonates.Two hundred and seventy eight serial simultaneous measurements of arterial acid-base status and blood lactate concentrations were carried out in 75 mechanically ventilated neonates with indwelling arterial catheters (gestational age and birthweight, median (range) -29 (23-40) weeks, and 1340 (550-4080) g, respectively).There were no correlations between arterial blood lactate and pH and base excess within subjects (r = 0.07 and r = -0.06, respectively) and only weakly positive but clinically irrelevant positive correlations between subjects (r = 0.28 and r = 0.27) in this group. Even in those infants who had not received any bicarbonate before their initial measurements (n = 48), there were no correlations between initial blood lactate concentrations and pH (r = 0.27), base excess (r = 0.17), or serum bicarbonate concentrations (r = -0.18). There was no relation between peak lactate concentration (PLC) and base excess (r = 0.16), and only a weak correlation between peak lactate concentration (PLC) and pH (r = 0.28). Negative base excess was an insensitive indicator of raised lactate concentrations. Only two out of 33 (6%) instances of hyperlactataemia (lactate2.5 mmol/l) would have been identified with a base excess-10 mmol/l as a cutoff. Lower cutoff values of base excess or pH performed no better. Raised lactate concentrations were associated with increased mortality at all levels. While six of 53 (11%) infants with a PLC2.5 mmol/l died, this proportion increased to four of 15 (27%) with a PLC between 2.5-5.0 mmol/l, and four of seven (57%) with a PLC5.0 mmol/l. Infants showing little rise or a substantial fall in blood lactate fared better than those with persistently raised values. A clinically important increase in blood lactate preceded the development of clinical markers of deterioration and complications in six infants.Contrary to popular belief, pH or base excess cannot be used as proxy measures for blood lactate concentration, and independent measurement of the latter are needed. Blood lactate concentrations may provide an early warning signal and important prognostic information in ill, ventilated neonates. In this regard, serial measurements of blood lactate are more useful than a single value.

This work deals with power quality improvement by using FACTS devices. When the reactive power of the load is changing continuously, a suitable fast response compensator is needed. Unified Power Flow Controller and Thyristor Controller Series Capacitor are two such compensators belonging to FACTS devices which are used in this work. Models for the UPFC and TCSC are developed using MATLAB Simulink. The simulation results for thirty bus system with UPFC and TCSC are presented.