bluuebunny/crossref_metadata_2025_split huggingface dataset:
Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening
Authors: Naito E. , Ito M. , Matsuura S. , Yokota I. , Saijo T. , Ogawa Y. , Kitamura S. , Kobayashi K. , Saheki T. , Nishimura Y. , Sakura N. , Kuroda Y. 
Published: December 2002

AbstractType II citrullinaemia (CTLN2) is an adult‐ or late childhood‐onset liver disease characterized by a liver‐specific defect in argininosuccinate synthetase protein. The enzyme abnormality is caused by deficiency of the protein citrin, which is encoded by the SLC25A13 gene. Until now, however, few cases with SLC25A13 mutations have been reported in children with liver disease. We describe an infant who presented with neonatal hepatitis in association with hypergalactosaemia detected by neonatal mass screening. DNA analysis of SLC25A13 revealed that the patient was homozygous for a IVS11+1G>A mutation. This case suggests that SLC25A13 mutant should be suspected in neonatal patients with hypergalactosaemia of unknown cause.
Promotion of Social Change: A Conceptual Framework
Authors: Tseng Vivian , Chesir-Teran Daniel , Becker-Klein Rachel , Chan May L. , Duran Valkiria , Roberts Ann , Bardoliwalla Nenshad 
Published: December 2002

AbstractThis paper argues for the need to advance promotion efforts and proposes a conceptual framework forpromotion of social change. A brief review is presented of traditional frameworks for the prevention of mental and social disorders and the promotion of wellness and social competencies, with attention to the ways in which promotion of social change extends and departs from these frameworks. In a framework for promoting social change, we advocate for promoting dynamic processes within systems, rather than outcomes within individuals. Systems are viewed as flexible and capable of facilitating multiple adaptive pathways for individuals and groups. Promoting social change also involves careful attention to critical analysis, values, language, and contextual processes. Examples are discussed throughout to illustrate how these principles have been used in the past and can be implemented in future efforts to promote social change.
Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia
Authors: Schimmenti Lisa A. , de la Cruz June , Lewis Richard Alan , Karkera J.D. , Manligas Glenda S. , Roessler Erich , Muenke Maximilian 
Published: December 2002

AbstractOcular (uveoretinal) colobomas occur in one in 10,000 individuals and present a substantive cause of congenital poor vision. The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur with renal anomalies as part of the renal‐coloboma syndrome (MIM#120330; #167409). From experimental data that upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that SHH could be a candidate for non‐syndromic ocular colobomas (NSOC). We identified a three‐generation family in which both a proband and his mother presented with iris and uveoretinal colobomas without optic nerve involvement. A novel 24 bp deletion in the gene SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma. © 2002 Wiley‐Liss, Inc.
Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism
Authors: Loeffler Judith , Soelder Elisabeth , Erdel Martin , Utermann Barbara , Janecke Andreas , Duba Hans‐Christoph , Utermann Gerd 
Published: December 2002

AbstractWe report on a woman with Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs. Conventional cytogenetic analysis revealed mosaicism for a small supernumerary, undefinable ring chromosome. Chromosome microdissection and reverse painting demonstrated that this marker contained pericentric material from chromosome 8 (8p12q12). Thus, we identified a Muellerian aplasia phenotype with partial trisomy 8 mosaicism. © 2002 Wiley‐Liss, Inc.
Statistical morphological analysis of hippocampal principal neurons indicates cell‐specific repulsion of dendrites from their own cell
Authors: Samsonovich Alexei V. , Ascoli Giorgio A. 
Published: December 2002

AbstractTraditionally, the sources of guidance cues for dendritic outgrowth are mainly associated with external bodies (A) rather than with the same neuron from which dendrites originate (B). To quantify the relationship between factors A and B as determinants of the adult dendritic shape, the morphology of 83 intracellularly characterized, stained, completely reconstructed, and digitized principal neurons of the rat hippocampus was statistically analyzed using Bayesian optimization. It was found that the dominant directional preference (tropism) manifested in dendritic turns is to grow away from the soma rather than toward the incoming fibers or in any other fixed direction; therefore, B is predominant. Results are robust and consistent for all examined morphological classes (dentate gyrus granule cells, basal and apical trees of CA3 and CA1 pyramidal cells). In addition, computer remodeling of neurons based on the measured parameters produced virtual structures consistent with real morphologies, as confirmed by measurement of several global emergent parameters. Thus, the simple description of dendritic shape based on dendrites' tendency to grow straight, away from their own soma, and with additional random deflections, proves remarkably accurate and complete. Although based on adult neurons, these results suggest that dendritic guidance during development may be associated primarily with the host cell. This possibility challenges the traditional concept of dendritic guidance: in that hippocampal cells are densely packed and have highly overlapping dendritic fields, the somatodendritic repulsion must be cell specific. Plausible mechanisms involving extracellular effects of spikes are discussed, together with feasible experimental tests and predicted results. © 2002 Wiley‐Liss, Inc.
Outcome of tyrosinaemia type III
Authors: Ellaway C. J. , Holme E. , Standing S. , Preece M. A. , Green A. , Ploechl E. , Ugarte M. , Trefz F. K. , Leonard J. V. 
Published: December 2002

AbstractTyrosinaemia type III is a rare disorder caused by a deficiency of 4‐hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities. A further four patients with tyrosinaemia type III are described. It is not clear whether a strict low tyrosine diet alters the natural history of tyrosinaemia type III, although there remains a suspicion that treatment may be important, at least in infancy.
Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)
Authors: Böhles H. , Sewell A. C. , Gebhardt B. , Reinecke‐Lüthge A. , Klöppel G. , Marquardt T. 
Published: December 2002

AbstractA male infant is described who presented with persistent hyperinsulinaemic hypoglycaemia, responding to diazoxide treatment. However, this therapy was discontinued because of seizures as a consequence of disturbed water and electrolyte balance. Glucose homeostasis could only be maintained by subtotal pancreatectomy, which was performed at 3 years of age. He developed a severe thrombosis, whereon a congenital disorder of glycosylation (CDG) was suspected. An abnormal transferrin isoelectric focusing pattern was found and the diagnosis of CDG Ia was confirmed by enzyme and molecular genetic analysis. This is the first patient with phosphomannomutase deficiency (McKusick 601785) described presenting with severe hyperinsulinaemic hypoglycaemia.
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study
Authors: Tonetti C. , Amiel J. , Munnich A. , Zittoun J. 
Published: December 2002

AbstractMethylenetetrahydrofolate reductase (MTHFR) deficiency was identified in two out of four children born from nonconsanguineous parents. One of the affected children exhibited some clinical findings suggesting cystathionine β‐synthase deficiency; MTHFR activity was extremely reduced. In addition, hyperhomocysteinaemia, hypomethioninaemia, low total folate, especially methylfolate in red blood cells, and a reduced methylfolate/total folate ratio were found. Two mutations not yet reported, one on exon 1 of the gene changing an arginine to stop codon and one other on exon 9 changing an arginine to tryptophan were identified in both children in the compound heterozygous state associated with a common polymorphism, 1298A'C, also in the heterozygous state. The mother, homozygous for the mutation on exon 9 and for the polymorphism 1298A'C on exon 7, was clinically and biochemically normal, with normal folate status, mainly methylfolate levels in red blood cells, although MTHFR activity was moderately decreased. The father, heterozygous for the transition arginine to stop codon and for the common polymorphism 677C'T on exon 4, exhibited major biochemical abnormalities, hyperhomocysteinaemia and low methylfolate levels in red blood cells, but was clinically normal. The unaffected children had a biochemical pattern close to that of their mother and were heterozygous for the mutation on exon 9 and also for the two common polymorphisms, 677C'T and 1298A'C.In the affected children, some biochemical abnormalities, including folate status, especially methylfolate levels, were improved with treatment combining methyltetrahydrofolic acid, hydroxocobalamin, pyridoxine and betaine; however, homocysteine concentrations remained high and methionine concentrations were lowered. The father was treated with folic acid, which partially improved biochemical abnormalities. The impact of these mutations is discussed.
Continuous glucose monitoring in children with glycogen storage disease type I
Authors: Hershkovitz E. , Rachmel A. , Ben‐Zaken H. , Phillip M. 
Published: December 2002

AbstractGlycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the magnitude and significance of hypoglycaemia in GSD I and to evaluate the efficacy of its dietary treatment. Four children with GSD I were studied over a 72‐h period. Results indicated that the values recorded with continuous subcutaneous glucose monitoring were highly correlated with paired blood glucose values measured by glucometer. Significant periods of asymptomatic hypoglycaemia were noted, especially during night‐time. The study suggests that repeated continuous subcutaneous glucose monitoring may serve as a useful tool for the assessment of the long‐term management of GSD I patients.
The Test of Time: Predictors and Effects of Duration in Youth Mentoring Relationships
Authors: Grossman Jean B. , Rhodes Jean E. 
Published: December 2002

AbstractThe effects and predictors of duration in youth mentor relationships were examined. The study included 1,138 young, urban adolescents (Mean age = 12.25”, all of whom applied to Big Brothers Big Sisters programs. The adolescents were randomly assigned to either the treatment or control group, and administered questions at baseline and 18 months later. Adolescents in relationships that lasted a year or longer reported the largest number of improvements, with progressively fewer effects emerging among youth who were in relationships that terminated earlier. Adolescents who were in relationships that terminated within a very short period of time reported decrements in several indicators of functioning. Older adolescents, as well as those who had been referred for services or had sustained emotional, sexual or physical abuse, were most likely to be in early terminating relationships, as were married volunteers aged 26–30 and those with lower incomes. Several dyadic factors were also found to be related to earlier terminations, including race, gender, and relationship quality.
Anger and combat‐related posttraumatic stress disorder
Authors: Novaco Raymond W. , Chemtob Claude M. 
Published: December 2002

AbstractWe examined whether combat‐related PTSD was differentially associated with particular dimensions of anger on two multi‐index, psychometric instruments and whether the proportion of variation in PTSD scores explained by anger was significantly greater than that by demographic and exposure variables. We also examined the reliability and validity of a subset of Mississippi Scale items as an anger measure. Participants were 143 Vietnam combat veterans. Anger accounted for over 40% of the variance in Mississippi PTSD scores (minus the anger items) above that associated with age, education, and combat exposure. Veterans with structured‐interview–diagnosed PTSD were significantly differentiated from those without PTSD on all anger indices. The results point to anger treatment as a high priority for combat‐related PTSD.
Glu274Lys/Gly309Arg Mutation of the Tissue‐Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions
Authors: Litmanovitz I. , Reish O. , Dolfin T. , Arnon S. , Regev R. , Grinshpan G. , Yamazaki M. , Ozono K. 
Published: December 2002

AbstractWe describe a patient diagnosed with lethal perinatal hypophosphatasia with a unique clinical presentation of convulsions that responded to vitamin B6. Genomic DNA sequence analysis of the tissue‐nonspecific alkaline phosphatase (TNSALP) gene revealed two missense mutations: a G‐to‐A transition resulting in a Glu to Lys at codon 274 (E274K), and a G‐to‐C transversion resulting in a Gly to Arg at codon 309 (G309R). The first mutation was maternally transmitted and was previously characterized as a moderate one, whereas the latter was paternally transmitted and has not been previously reported. Phenotype/genotype correlation indicates that G309R is a deleterious mutation that can lead to seizures and a lethal outcome, as was demonstrated in our patient.
A prospective analysis of trauma exposure: The mediating role of PTSD symptomatology
Authors: Orcutt Holly K. , Erickson Darin J. , Wolfe Jessica 
Published: December 2002

AbstractTrauma exposure has been associated with increased risk of exposure to additional traumatic events. Reactions to trauma exposure, specifically PTSD symptomatology, may mediate the link between trauma exposure and later traumatic events. Data from a longitudinal sample of Gulf War veterans (N= 2.949) were analyzed using a series of regression models. Higher levels of combat exposure were related to increased reports of PTSD symptomatology immediately upon return as well as increased reports of traumatic events in the 2 years following the Gulf War. PTSD symptomatology partially mediated the link between combat exposure and later trauma. Symptom clusters were also analyzed separately as potential mediators. Implications for the treatment of PTSD and prevention of exposure to multiple traumas are discussed.
Parental caring as a possible buffer against sexual revictimization in young adult survivors of child sexual abuse
Authors: Jankowski M. Kay , Leitenberg Harold , Henning Kris , Coffey Patricia 
Published: December 2002

AbstractThis study examined whether parental caring provided a buffer against the revictimization effect. Nine hundred and seventy‐four undergraduate women provided information about child sexual abuse, physical abuse, and whether they witnessed violence between their parents during childhood. They also reported whether they had ever been the victim of sexual assault in adulthood, and offered their perceptions of the degree of care they received as a child from each parent. Results indicated that women who had been sexually abused in childhood were twice as likely to be sexually assaulted in adulthood and that women with 2 or more types of childhood trauma were 3 times as likely to be sexually revictimized. Parental caring was not found to buffer against the revictimization effect.
Coping, functioning, and adjustment of rescue workers after the Oklahoma City bombing
Authors: North Carol S. , Tivis Laura , McMillen J. Curtis , Pfefferbaum Betty , Cox Jann , Spitznagel Edward L. , Bunch Kenneth , Schorr John , Smith Elizabeth M. 
Published: December 2002

AbstractStudies have not previously considered postdisaster adjustment in the context of psychiatric disorders. After the Oklahoma City bombing, a volunteer sample of 181 firefighters who served as rescue and recovery workers was assessed with a structured diagnostic interview. The firefighters had relatively low rates of posttraumatic stress disorder (PTSD) and described little functional impairment, positive social adjustment, and high job satisfaction. PTSD was associated with reduced job satisfaction and functional impairment, providing diagnostic validity. Turning to social supports, seeking mental health treatment, and taking medication were not widely prevalent coping responses. Postdisaster alcohol use disorders and drinking to cope were significantly associated with indicators of poorer functioning. Surveillance for problem drinking after disaster exposure may identify useful directions for intervention.
Weekly High-Dose Calcitriol and Docetaxel in Metastatic Androgen-Independent Prostate Cancer
Authors: Beer Tomasz M. , Eilers Kristine M. , Garzotto Mark , Egorin Merrill J. , Lowe Bruce A. , Henner W. David 
Published: December 2002

Purpose: To determine the safety and efficacy of weekly high-dose oral calcitriol (Rocaltrol, Roche Pharmaceuticals, Basel, Switzerland) and docetaxel (Taxotere, Aventis Pharmaceuticals, Bridgewater, NJ) in patients with metastatic androgen-independent prostate cancer (AIPC). Patients and Methods: Thirty-seven patients were treated with oral calcitriol (0.5 μg/kg) on day 1 followed by docetaxel (36 mg/m2) on day 2, repeated weekly for 6 weeks of an 8-week cycle. Patients maintained a reduced calcium diet and increased oral hydration. Prostate-specific antigen (PSA) response was the primary end point, which was defined as a 50% reduction in PSA level confirmed 4 weeks later. Results: Thirty of 37 patients (81%; 95% confidence interval [CI], 68% to 94%) achieved a PSA response. Twenty-two patients (59%; 95% CI, 43% to 75%) had a confirmed > 75% reduction in PSA. Eight of the 15 patients with measurable disease (53%; 95% CI, 27% to 79%) had a confirmed partial response. Median time to progression was 11.4 months (95% CI, 8.7 to 14 months), and median survival was 19.5 months (95% CI, 15.3 months to incalculable). Overall survival at 1 year was 89% (95% CI, 74% to 95%). Treatment-related toxicity was generally similar to that expected with single-agent docetaxel. Pharmacokinetics of either calcitriol or docetaxel were not affected by the presence of its companion drug in an exploratory substudy. Conclusion: The combination of weekly oral high-dose calcitriol and weekly docetaxel is a well-tolerated regimen for AIPC. PSA and measurable disease response rates as well as time to progression and survival are promising when compared with contemporary phase II studies of single-agent docetaxel in AIPC. Further study of this regimen is warranted.
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations
Authors: Marcão Ana , Simonis Heidi , Schestag Frank , Sá Miranda M. Clara , Gieselmann Volkmar 
Published: December 2002

AbstractMetachromatic leukodystrophy (OMIM 250100) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA, EC 3.1.6.8). This disease affects mainly the nervous system, because patients cannot degrade 3‐O‐sulfo‐galactosylceramide (sulfatide), a major myelin lipid. Here we describe the characterization of the biochemical effects of two arylsulfatase A missense mutations, P425T and C300F. Transfection experiments demonstrate the expression of residual ARSA enzyme activity for P425T, but not for C300F substituted ARSA. Relative specific activity determination showed that the P425T substituted enzyme has retained about 12% of specific enzyme activity, whereas the C300F substituted enzyme is reduced to less than 1%. Pulse‐chase experiments reveal that both mutant proteins are unstable, with a half life of less than 6 hr. Increased secretion upon addition of NH4Cl indicates that the mutant proteins can pass the Golgi apparatus and thus are not degraded in the endoplasmic reticulum (ER), but in the lysosomes. This is supported by experiments, which demonstrate the presence of mannose‐6‐phosphate residues on the oligosaccharide side chains of the mutant proteins. Addition of the cysteine protease inhibitor leupeptin increases the amount of ARSA activity in cells expressing the P425T substituted enzyme, whereas no increase in activity was seen with C300F substituted ARSA. © 2002 Wiley‐Liss, Inc.
After the Omagh bomb: Posttraumatic stress disorder in health service staff
Authors: Luce Anna , Firth‐Cozens Jenny , Midgley Simon , Burges Clive 
Published: December 2002

AbstractIn this postal survey of 1064 health service staff working closest to the Omagh bombing in Northern Ireland, approximately half reported having professional or civilian involvement. Types of involvement and posttraumatic stress disorder (PTSD) levels varied between staff groups. Staff involved both professionally and as a civilian, particularly those who witnessed the trauma, or those who had experienced previous emotional problems and trauma, had the highest levels of symptomatology. Although staff with higher PTSD symptoms were more likely to seek professional help, only a minority contacted professionals for support.
Peritraumatic dissociative experiences, trauma narratives, and trauma pathology
Authors: Zoellner Lori A. , Alvarez‐Conrad Jennifer , Foa Edna B. 
Published: December 2002

AbstractPeritraumatic dissociation, i.e., dissociation during or immediately after a traumatic event, has been associated with persistence of trauma‐related pathology. Peritraumatic dissociation may interfere with encoding of traumatic memories and this style may impede recovery. This study examines this hypothesis by analyzing trauma narratives from 28 female sexual and nonsexual assault victims who reported either high or low peritraumatic dissociation. Participants were asked to recount their assault. Narratives were videotaped, transcribed, and coded. Narratives of individuals with high peritraumatic dissociation had higher grade levels and a trend toward lower reading ease than those with low peritraumatic dissociation. Both higher grade levels and lower reading ease of prethreat sections of trauma narratives were related to posttreatment reexperiencing and anxiety symptoms.
Partners' ratings of combat veterans' anger
Authors: Calhoun Patrick S. , Beckham Jean C. , Feldman Michelle E. , Barefoot John C. , Haney Thom , Bosworth Hayden B. 
Published: December 2002

AbstractSpouse reports may serve as an important source of collateral information in the assessment of posttraumatic stress disorder (PTSD) and associated behavioral problems. This study examined the concordance of anger reports among 94 combat veterans and their partners. Veterans' scores on subscales of the Multidimensional Anger Inventory were compared with scores on a parallel version completed by partners to assess veterans' anger symptomatology. The study examined whether the concordance between veteran and partner‐reported anger is moderated by whether the veteran suffers from PTSD. There was moderate agreement between veterans and their partners on reports of anger and little evidence to suggest that PTSD diagnosis affected the convergence between partner and veteran scores.