bluuebunny/crossref_metadata_2025_split huggingface dataset:
Elevated maternal serum alpha‐fetoprotein, umbilical vein varix, and mesenchymal dysplasia: are they related?
Authors: Mulch Amanda D. , Stallings Shawn P. , Salafia Carolyn M. 
Published: June 2006

AbstractObjectives and MethodsVariceal dilatation of the umbilical vein is a rare vascular anomaly of the umbilical cord. We present a patient case where dilatation of the umbilical vein was associated with an elevated maternal serum alpha‐fetoprotein on prenatal testing and mesenchymal dysplasia on pathological evaluation of the placenta.ResultsAlterations in the villous structure of the placenta as in mesenchymal dysplasia may lead to increased placental permeability causing an elevated maternal serum alpha‐fetoprotein on antenatal testing.ConclusionAbnormal testing should be an indication for close evaluation of the placenta and placental structures, as well as the fetus. Copyright © 2006 John Wiley & Sons, Ltd.
Fetal abdomino‐perineal lymphangioma: differential diagnosis and management
Authors: York Douglas G. , Wolfe Honor , von Allmen Daniel 
Published: June 2006

AbstractFetal lymphangiomas are rare congenital anomalies of the lymphatic system most commonly presenting in the head and neck. Cystic abdominal lymphangiomas are more rare with only a few cases reported prenatally. We report a case of a prenatally detected abdomino‐perineal lymphangioma that mimicked the more fatal prenatally detected sacrococcygeal teratoma (SCT), which resulted in one caregiver suggesting termination of the pregnancy. This case demonstrates the importance of carefully considering the differential diagnosis of fetal abdomino‐perineal masses when counseling parents. Copyright © 2006 John Wiley & Sons, Ltd.
Improved electrical, optical, and structural properties of undoped ZnO thin films grown by water‐mist‐assisted spray pyrolysis
Authors: Pérez L. Martínez , Aguilar‐Frutis M. , Zelaya‐Angel O. , Muñoz Aguirre N. 
Published: June 2006

AbstractUndoped ZnO thin films were prepared using the ultrasonic spray pyrolysis deposition technique with zinc acetylacetonate dissolved in N,N‐dimethylformamide as the source materials solution. The addition of water mist in a parallel flux to the spray solution stream was also used during deposition of the films. The addition of water mist improved the electrical characteristics of the ZnO films. Fresh ZnO samples were then thermally annealed in a H2 reducing atmosphere. X‐ray diffraction patterns show mainly the wurzite crystalline ZnO phase in the films. An electrical resistivity (ρ ) of around 2.7 × 10−2 Ω cm was measured at room temperature for the best undoped ZnO film. ρ is approximately one order of magnitude lower than the resistivities found in undoped ZnO films obtained by means of similar non‐vacuum deposition techniques. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Mimicking the atmospheric OH‐radical‐mediated photooxidation of isoprene: formation of cloud‐condensation nuclei polyols monitored by electrospray ionization mass spectrometry
Authors: Silva Santos Leonardo , Dalmázio Ilza , Eberlin Marcos N. , Claeys Magda , Augusti Rodinei 
Published: June 2006

AbstractRecently, it has been proposed (M. Claeys et al., Science 2004; 303: 1173) that the atmospheric OH‐radical‐mediated photooxidation of isoprene is a source of two major secondary organic aerosol (SOA) components, that is, 2‐methylthreitol and 2‐methylerythritol. These diastereoisomeric tetrols, which were characterized for the first time in the fine size fraction (<2.5 µm aerodynamic diameter) of aerosols collected in the Amazon rain forest during the wet season, were proposed to enhance the capability of the aerosols to act as cloud‐condensation nuclei. In the present study, we performed the oxidation of isoprene in aqueous solution under conditions that attempted to mimic atmospheric OH‐radical‐induced photooxidization, and monitored and characterized on‐line the reaction products via electrospray ionization mass (and tandem mass) spectrometry in the negative ion mode. The results show that the reaction of isoprene with photo‐ or chemically generated hydroxyl radicals indeed yields 2‐methyltetrols. Other polyols were also detected, and they may therefore be considered as plausible SOA components eventually formed in normal or more extreme OH‐radical‐mediated photooxidation of biogenic isoprene. Copyright © 2006 John Wiley & Sons, Ltd.
Mini‐Symposium: Newborn screening for inborn errors of metabolism—Clinical effectiveness
Authors: Wilcken Bridget 
Published: June 2006

SummaryWith the application of tandem mass spectrometry, newborn screening has become an important topic in inborn metabolic disease. The aim of newborn screening is to produce an improved clinical outcome by early detection of disease, but it has been difficult to measure clinical effectiveness. Good evidence of clinical effectiveness has been hard to obtain because of the rarity of individual disorders, often precluding randomized controlled trials, the increase in diagnosis of individual disorders by screening, compared with clinical diagnosis, variable definitions of what constitutes a case, uncertainty about completeness of ascertainment, and differences in treatment in different geographical areas or at different times. Multiplex testing has introduced some new problems. There have been recent attempts to standardize screening in several countries, which have taken different approaches. Public pressure has driven the introduction of screening for inborn errors in some areas. Since it seems inevitable that screening may often be implemented ahead of hard evidence of benefit, ongoing evaluation of clinical effectiveness is a necessary part of any screening programme.
Breast feeding in organic acidaemias
Authors: Gokcay G. , Baykal T. , Gokdemir Y. , Demirkol M. 
Published: June 2006

SummaryBreast feeding has been recommended for the dietary treatment of infants with organic acidaemias, but studies documenting clinical experience are still very few. Nine infants, diagnosed with methylmalonic acidaemia (n = 4), propionic acidaemia (n = 1), isovaleric acidaemia (n = 2) and glutaric acidaemia type I (n = 2) were breast fed after diagnosis. The age of the patients was 28.9± 13.4 months (mean ± SD) (range 10–57 months). Eight patients were diagnosed with clinical symptoms and one because of an affected sibling. After the control of acute metabolic problems, an initial period with a measured volume of expressed breast milk was continued with on‐demand breast feeding with the addition of a special essential amino acid mixture and energy supplements. Breast feeding was well tolerated in seven infants with good growth, metabolic control and neurological outcome. The duration of breast feeding was 12.3± 7.4 months (mean ± SD) (range 4–24 months) in these patients. Breast feeding was terminated in the patient with propionic acidaemia because of two acute metabolic episodes requiring hospitalization, and could not be continued in one of the patients with isovaleric acidaemia owing to shortage of breast milk. A decrease in the frequency of infections, acute metabolic episodes and hospital admissions was observed in breast‐fed infants. Breast feeding of infants with organic acidaemias is feasible with close monitoring of clinical parameters such as growth, development and biochemistry, including amino acids, organic acids and ammonia.
Limitations of enzyme replacement therapy: Current and future
Authors: Wraith J. E. 
Published: June 2006

SummaryOrphan drug legislation passed in the USA in 1983 and in Europe in 1999 has encouraged biotechnology companies to develop treatments for diseases that the industry previously ignored because they affect only small numbers of people and promised only limited profitability. Incentives, exclusivity and the freedom to charge sufficient to cover development costs has led to a niche market, and patients with lysosomal storage disorders have been one of the main beneficiaries of these developments. The recombinant production of highly purified enzymes that are modified to improve tissue targeting has been a direct result of this legislation. The spectacular clinical and financial success of Cerezyme (and previously Ceredase, Genzyme) for the treatment of Gaucher disease has led to the development of enzyme replacement treatment(s) for Fabry disease and mucopolysaccharidoses types I and VI. A number of other enzyme replacement therapies are at an earlier stage in development and the next 12 months could see the launch of therapies for mucopolysaccharidosis type II and Pompe disease. Like all medical treatments, this approach has some limitations. Not all patients are suitable for treatment, some organs and tissues are corrected more readily than others, and there are problems with gauging efficacy in these highly variable disorders. Finally, the therapies are expensive, limiting access to patients from those countries that are able to afford expensive health care.
Hepatocyte transplantation for liver‐based metabolic disorders
Authors: Dhawan Anil , Mitry Ragai R. , Hughes Robin D. 
Published: June 2006

SummaryHepatocyte transplantation is being investigated as an alternative to orthotopic liver transplantation in patients with liver‐based metabolic disorders. The progress made in this field to date is reviewed. Protocols have been developed using collagenase perfusion to isolate human hepatocytes from unused donor liver tissue. Hepatocytes with a high viability can often be obtained and can be cryopreserved for later use, though with loss of function on thawing. For clinical use, hepatocytes must be prepared in clean GMP conditions with cells meeting criteria of function and lack of microbial contamination before patient use. Hepatocytes are infused intraportally into the patient's liver, where a proportion of cells will engraft and replace the deficient metabolic function without the need for major surgery. Twenty patients have now received hepatocyte transplantation, including eight children at King's College Hospital. There was a range of aetiologies of liver disease: familial hypercholesterolaemia, Crigler–Najjar syndrome type 1, urea cycle defects, infantile Refsum disease, glycogen storage disease type Ia, inherited factor VII deficiency and progressive familial intrahepatic cholestasis type 2. Clinical improvement and partial correction of the metabolic abnormality was observed in most cases. Considerable progress has been made in developing the technique, but hepatocyte transplantation is limited by the available supply of liver tissue. Hepatocytes derived from stem cells could provide alternative sources of cells in the future.
Inborn error of amino acid synthesis: Human glutamine synthetase deficiency
Authors: Häberle Johannes , Görg Boris , Toutain Annick , Rutsch Frank , Benoist Jean‐François , Gelot Antoinette , Suc Annie‐Laure , Koch Hans Georg , Schliess Freimut , Häussinger Dieter 
Published: June 2006

SummaryGlutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. Glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a homozygous mutation in the glutamine synthetase gene and enzymatic investigations confirmed that these mutations lead to a severely reduced glutamine synthetase activity. From the observation in the first patients with congenital glutamine synthetase deficiency, brain malformation can be expected as one of the leading signs. In addition, other organ systems are probably involved as observed in one of the index patients who suffered from severe enteropathy and necrolytic erythema of the skin. Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid.
Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?
Authors: Djouadi F. , Aubey F. , Schlemmer D. , Gobin S. , Laforet P. , Wanders R. J. A. , Strauss A. W. , Bonnefont J. P. , Bastin J. 
Published: June 2006

SummaryExposure to fibrates leads to normalization of fatty acid oxidation (FAO) in fibroblasts from patients with myopathic forms of CPT2 deficiency or VLCAD deficiency. Correction of FAO is related to a drug‐induced increase of residual enzyme activity, and this could provide a new treatment strategy for these disorders.
Treatment with amino acids in serine deficiency disorders
Authors: de Koning T. J. 
Published: June 2006

SummarySerine deficiency disorders are rare defects in the biosynthesis of the amino acid L‐serine. At present two disorders have been reported: 3‐phosphoglycerate dehydrogenase deficiency and 3‐phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3‐phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L‐serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L‐serine and glycine in serine deficiency is reviewed.
Gene therapy of metabolic diseases
Authors: Fischer Alain , Hacein‐Bey‐Abina Salima , Cavazzana‐Calvo Marina 
Published: June 2006

SummaryThis review surveys the potential application of gene therapy to metabolic diseases. Proof of principle has been achieved in the treatment of two inherited immunodeficiency conditions. A significant safety issue has also been observed. Several strategies are being experimentally tested for a number of metabolic diseases (more than 20) and may provide a rationale for the future development of clinical trials.
Overexpression of wild‐type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8‐deficient fibroblasts
Authors: Rosenberg Efraim H. , Muñoz Cristina Martínez , Degrauw Ton J. , Jakobs Cornelis , Salomons Gajja S. 
Published: June 2006

SummaryIn the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild‐type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8‐deficient fibroblasts.
‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry
Authors: Dionisi‐Vici Carlo , Deodato Federica , Röschinger Wulf , Rhead William , Wilcken Bridget 
Published: June 2006

Summary‘Classical organic acidurias’ comprise isovaleric aciduria, propionic aciduria and methylmalonic aciduria. Available data from the literature suggest that the use of ‘new’ therapeutic strategies has improved survival but has not modified neurodevelopment. Progressive neurocognitive deterioration is almost invariably present in propionic and methylmalonic acidurias, while large‐scale studies on the long‐term outcome of patients with isovaleric aciduria are still lacking. In order to answer to some of the questions suggested by Wilson and Jungner in 1968 about the criteria of disease screening, we compared the natural history of patients with ‘classical’ organic acidurias diagnosed on clinical bases to those diagnosed through neonatal mass screening using tandem mass spectrometry. Decreased early mortality, less severe symptoms at diagnosis, and more favourable short‐term neurodevelopmental outcome were recorded in patients identified through expanded newborn screening. The short duration of follow‐up so far does not allow us to draw final conclusions about the effects of newborn screening on long‐term outcome. The evaluation of the effect of neonatal screening on the detection rate of these three diseases showed that the incidence of isovaleric aciduria was significantly higher in the screening population than in clinically detected cases, with no changes for propionic and methylmalonic acidurias. Further multicentre longitudinal studies are needed to assess the usefulness of expanded newborn screening for ‘classical’ organic acidurias and to better understand the clinical spectrum of these diseases. This paper describes the long‐term outcome and the impact of expanded newborn screening on the so‐called ‘classical’ organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria).
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
Authors: Touati G. , Valayannopoulos V. , Mention K. , de Lonlay P. , Jouvet P. , Depondt E. , Assoun M. , Souberbielle J. C. , Rabier D. , Ogier de Baulny H. , Saudubray J.‐M. 
Published: June 2006

SummaryIn a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment, 18% died later, and the remainder (68%) are still alive. All patients were treated with the same protocol of enteral feeds with a low‐protein diet adjusted to individual tolerance, carnitine, antibiotics, and only occasional use of an amino acid (AA) mixture. There was intensive follow‐up and monitoring using measurements of urinary urea. Thirty‐nine patients with severe forms, followed for more than 3 years, are analysed in particular detail. Of the 17 PA patients, 6 had moderate disability (all neonatal‐onset forms), whereas 11 were normal or slightly delayed in their mental development. Four presented with cardiomyopathy, of whom 2 died. Of the 22 MMA patients, 13 presented in the neonatal period, of whom 3 died later, 2 are in renal failure and only 5 are still alive and have a normal or slightly delayed mental development. In the 9 patients with late‐onset forms, there were no deaths and all patients but one have normal mental development. Among the 39 patients, only 40% were given an AA supplement at 3 years, and 50% between 6 and 11 years. The actual intake of natural protein was 0.92, 0.78 and 0.77 g/kg per day at 3, 6 and 11 years, respectively, in patients without AA supplementation, whereas it was 0.75, 0.74 and 0.54 g/kg per day in the group who received small quantities of AA (0.4–0.6 g/kg per day). In both groups, feeding disorders were frequent: 55% at 3 years, 35% at 6 years and 12% at 11 years. Many patients were given a food supplement by tube overnight or were even exclusively tube fed: 60% at 3 years, 48% at 6 years and still 27% at 11 years. Growth velocity was near the normal values. Plasma valine and isoleucine were low to very low, as were leucine and phenylalanine but to a lesser extent. Albumin, vitamins, trace elements and markers of bone metabolism were within the normal values. IGF1, 24‐hour urine calcium and body mass density were low. Body composition showed a normal to low lean mass and a normal to high fat mass.
Effectiveness of hyperbaric oxygen therapy in idiopathic sudden hearing loss
Authors: Satar B , Hidir Y , Yetiser S 
Published: June 2006

The aim of this study was to investigate the efficacy of hyperbaric oxygen (HBO) therapy in idiopathic sudden sensorineural hearing loss (ISSHL) by comparing hearing gain and improvement rate in patients who have been placed on both HBO and medical treatment (MT) (37 patients), and patients who have received MT only (17 patients). Both groups were compared with reference to pure tone average (PTA) and the number of patients who experienced hearing gain. Of 37 patients (40 ears) who received HBO + MT, 24 (60 per cent) experienced ≥ 10 decibels (dB) improvement in PTA compared to 13 (76.4 per cent) of 17 patients who were placed on MT only. Inter- or intra-group comparison of age stratification (<50 and ≥50 ages) did not produce significant differences in PTA and in the number of patients who experienced hearing gain.Although there are numerous studies showing efficacy of HBO therapy; this study did not reveal a trend in favour of HBO therapy.
Parasequence development in the Ediacaran Shuram Formation (Nafun Group, Oman): high‐resolution stratigraphic test for primary origin of negative carbon isotopic ratios
Authors: Le Guerroué Erwan , Allen Philip A. , Cozzi Andrea 
Published: June 2006

ABSTRACTNeoproterozoic carbonates are known to show exceptional variations in their carbon isotopic ratios, and in the absence of biostratigraphy and a firm geochronological framework, these variations are used as a correlation tool. However, it is controversial whether the carbon isotope record reveals a primary oceanographic signal or secondary effects such as diagenesis. The Shuram Formation of the Nafun Group of Oman allows a stratigraphic test of this problem. The Nafun Group (Huqf Supergroup, Oman) in the Huqf area of east‐central Oman consists of inner carbonate ramp facies of the Khufai Formation overlain by marine, storm‐generated, red and brown siltstones of the Shuram Formation. Towards its top, the Shuram Formation is composed of distinctive shallowing‐upward, 4–17‐m‐thick parasequences cropping out continuously over 35 km, which show recessive swaley cross‐stratified siltstones capped by ledges comprising wave‐rippled, intraclast‐rich ooidal carbonate. These storm‐dominated facies show a regional deepening in palaeobathymetry towards the south. The carbonates of the Shuram Formation are marked by an extreme depletion in 13C in bulk rock. δ13C values quickly reach a nadir of −12‰ just above the Khufai‐Shuram boundary and steadily return to positive values in the overlying mainly dolomitic Buah Formation. The Shuram excursion is thought to be ca. 50 Myr in duration and extends over 600 m of stratigraphy. Carbon isotopic values show a systematic variation in the parasequence stack, with values varying both vertically through the stratigraphy (∼2‰ per 45 m) and laterally in the progradation distance (∼1‰ over 35 km). This supports a primary, oceanographic origin for these extremely negative carbon isotopic values and independently argues strongly against diagenetic resetting.
‘Five‐parameter’ analysis of grain boundary networks by electron backscatter diffraction
Authors: RANDLE VALERIE 
Published: June 2006

SummaryThis paper describes state‐of‐the‐art analysis of grain boundary populations by EBSD, with particular emphasis on advanced, nonstandard analysis. Data processing based both on misorientation alone and customised additions which include the boundary planes are reviewed. Although commercial EBSD packages offer comprehensive data processing options for interfaces, it is clear that there is a wealth of more in‐depth data that can be gleaned from further analysis. In particular, determination of all five degrees of freedom of the boundary population provides an exciting opportunity to study grain boundaries by EBSD in a depth that was hitherto impossible. In this presentation we show ‘five‐parameter’ data from 50 000 boundary segments in grain boundary engineered brass. This is the first time that the distribution of boundary planes has been revealed in a grain boundary engineered material.