bluuebunny/crossref_metadata_2025 huggingface dataset:
Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review
Authors: Bove Kevin E. , Heubi James E. , Balistreri William F. , Setchell Kenneth D.R.
Published: October 2002

Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. The associated liver diseases may be life threatening, and are treatable, usually by replacement of deficient primary bile acids. Specific diagnosis is made by analysis of body fluids (bile, blood, and urine) using fast atom bombardment-mass spectroscopy (FAB-MS) and gas chromatography-mass spectroscopy (GC-MS). Inborn errors have been demonstrated for four single enzymes involved in modification of the sterol nucleus and in five steps in modification of the side-chain to form cholic and chenodeoxycholic acids, the primary bile acids. With few exceptions, BASD cause liver diseases that vary from severe to mild depending on the defect. In three of four known defects of sterol nucleus modification, liver disease is progressive. Progression of liver disease is most rapid when the defect results in accumulation of toxic monohydroxy and unsaturated oxo-bile acids. Liver disease may be transient, delayed in onset and mild. Reduced bile flow caused by atypical bile acids contributes to cholestasis and may be the dominant factor in defects of side-chain synthesis, peroxisomal abiogenesis and S-L-O syndrome. Pathological findings may include intralobular cholestasis with giant cell transformation, prevalence of necrotic hepatocytes including giant cell forms, and hepatitic injury confined to the portal limiting plate where the smallest bile ductules may be injured and where fibrosis typically develops. Interlobular bile ducts are usually spared. Ultrastructure of liver reveals nonspecific changes with the possible exception of unusual canalicular morphology in some defects. The course of BASD may be modified by replacement of deficient primary bile acids, which produces beneficial feedback inhibition of abnormal bile acid production and enhances choluresis. Giant cell transformation is present in all symptomatic infants with BASD and seems to have a more consistent association with BASD than with the many other liver diseases in infants where it occurs. We hypothesize that immature hepatocytes of infants may fuse to form multinucleate hepatocytes whenever atypical or toxic bile acids are present and the pool of normal bile acids is critically reduced.
Misleading postevent information and working memory capacity: an individual differences approach to eyewitness memory
Authors: Jaschinski Uta , Wentura Dirk
Published: October 2002

The present study examines how individual differences in working memory capacity relate to the effect of misleading postevent information on memory for the original event. Participants were shown a film of a crime event and were then asked to unscramble a narrative that included misinformation regarding some of the film's details. Additionally, the working memory capacity of the participants was measured using the operation‐word span task. Finally, in a free recall test, participants recalled fewer correct details in the misinformation condition compared to the control condition. This effect was negatively correlated with working memory capacity. Copyright © 2002 John Wiley & Sons, Ltd.
Pre‐arrangement of solvability, complexity, stability and quality of GPC systems
Authors: Suchomski Piotr , Kowalczuk Zdzisław
Published: October 2002

A design problem of generalized predictive control (GPC) of plants characterized by discrete‐time models with a non‐zero transportation‐delay is considered. Conditions for the existence of the solution of the problem in terms of relevant design parameters (tuning knobs) are proposed and the system characteristics are discussed. Several design hints suitable for such plant models are proposed. Consequently, it is shown that by a suitable choice of the GPC tuning knobs a definite pre‐arrangement of the solvability, complexity, stability and quality (including robustness) of the resultant GPC control systems can be achieved. Some numerical examples are also given to illustrate the design problem and proposed methodology. Copyright © 2002 John Wiley & Sons, Ltd.
Virtual reference feedback tuning for two degree of freedom controllers
Authors: Lecchini A. , Campi M.C. , Savaresi S.M.
Published: October 2002

The virtual reference feedback tuning (VRFT) is a data‐based method for the design of feedback controllers. In the original formulation, the VRFT method gives a solution to the degree of freedom model‐reference control problem in which the objective is to shape the input–output transfer function of the control system. In this paper, the extension of the method to the design of 2 d.o.f. controllers is presented and discussed. Copyright © 2002 John Wiley & Sons, Ltd.
Iterative feedback tuning—an overview
Authors: Hjalmarsson Håkan
Published: October 2002

Adaptive and iterative control algorithms based on explicit criterion minimization are briefly reviewed and an overview of one such algorithm, iterative feedback tuning (IFT), is presented. The basic IFT algorithm is reviewed for both single‐input/single‐output and multi‐input/multi‐output systems. Subsequently the application to non‐linear systems is discussed. Stability and robustness aspects are covered. A survey of existing extensions, applications and related methods is also provided. Copyright © 2002 John Wiley & Sons, Ltd.
Follow‐up examinations including sequential bone marrow biopsies in essential thrombocythemia (ET): A retrospective clinicopathological study of 120 patients
Authors: Thiele Juergen , Kvasnicka Hans Michael , Schmitt‐Graeff Annette , Zankovich Rudolph , Diehl Volker
Published: October 2002

Diagnosis of essential thrombocythemia (ET) has been usually established by regarding the criteria of the Polycythemia Vera Study Group. Accordingly, a retrospective clinicopathological study was performed on 120 patients with a follow‐up ranging between 5 and 13 years and repeated bone marrow trephine examinations. Following the new WHO classification, at presentation patients revealed three distinctive patterns of bone marrow (BM) features: (true) ET in 43 patients, prefibrotic idiopathic myelofibrosis (IMF) in 50 patients, and early IMF in 27 patients. Heterogeneity of morphological features was associated with correspondingly expressed laboratory data. Contrasting initial and early IMF, patients with true ET displayed an about 80% probability to lack splenomegaly, anemia, and increase in the LDH and LAP values and also failed to show any myeloblasts or erythroblasts on the peripheral blood films. Follow‐up examinations including sequential BM biopsies (mean interval 39 ± 31 months) disclosed that of the 43 patients with true ET only one developed an increase in reticulin. On the other hand, 65 of 77 patients with prefibrotic and early IMF evolved into overt myelofibrosis–osteosclerosis. Moreover, survival analysis demonstrated significant differences in our patients. A neglectable proportion of life loss according to a sex‐ and age‐matched general population was found in true ET (less than 11%) opposed to IMF without or mild fibrosis (range 21% to 32%). Am. J. Hematol. 70:283–291, 2002. © 2002 Wiley‐Liss, Inc.
Silent brain infarcts are rare in Kuwaiti children with sickle cell disease and high Hb F
Authors: Adekile A.D. , Yacoub F. , Gupta R. , Sinan T. , Haider M.Z. , Habeeb Y. , Al‐Bloushi M. , Moosa A.
Published: October 2002

Overt stroke is rare among sickle cell disease (SCD) patients in Kuwait. However, there are no previous studies of silent cerebral infarcts, which have been described in up to 20% of American children with Hb SS. We have carried out a prospective brain MRI study among otherwise normal SCD patients, who were consecutive patients seen in a 1‐year period to document the prevalence of silent cerebral infarcts in children with sickle cell disease in Kuwait. Any patient with a previous seizure or other neurological abnormality was excluded. MRI was done with a 1.5 Tesla unit with super‐conducting magnet. T1‐ and T2‐weighted sagittal and axial sections and proton density axial images were obtained in 5‐mm thick sections. The study group consisted of 30 (23 SS and 7 Sβ0Thal) patients—19 males and 11 females—whose ages ranged from 6 to 17 (mean of 9.8 ± 3.5) years. Hb F ranged from 11% to 35% with a mean of 22.8% ± 5.7%. Only one patient, a 10‐and‐a‐half‐year‐old boy with Hb SS, showed hyperintense signals in the parietal white matter, consistent with small infarcts, thus giving a prevalence of 3.3%. Silent brain infarcts are uncommon in our patients, and the protective factors remain to be fully elucidated. Am. J. Hematol. 70:228–231, 2002. © 2002 Wiley‐Liss, Inc.
Body mass index, overweight and obesity in married and never married men and women in Poland
Authors: Lipowicz Anna , Gronkiewicz Stanislaw , Malina Robert M.
Published: October 2002

The study examined the relationship between marital status and the body mass index (BMI) and the prevalence of overweight and obesity in the Polish population. The sample included 2,266 men and 4,122 women, 25–60 years of age, who were occupationally active inhabitants of Wroclaw, in southwestern Poland. Marital status was defined by two categories: never married and presently married, and two groups in each category were established on the basis of educational level: well‐educated (12 or more years in school) and poorly educated (less than 12 years in school). The subjects were also divided into four age groups: 25–30, 31–40, 41–50, and 51–60 years. Height and weight were measured and the BMI was calculated. Three categories of the BMI were established: normal, BMI < 25.0 kg/m2, overweight, BMI ≥ 25 < 30 kg/m2, and obese, BMI ≥ 30 kg/m2. In each age and educational group, married individuals had a higher BMI than those who were never married. With the exception of well‐educated males 51–60 years, differences in the BMI between married and never married individuals increased with age. In general, married men and women were more likely to be overweight and obese than never married individuals. The results indicated a significant association (P < 0.001) between marital status and the BMI in both sexes. After age, marital status was the most important predictor of overweight/obesity among men (P < 0.001), whereas educational level did not have a significant role. Among women, age, marital status, and education were significantly (P < 0.001) related to the BMI. Am. J. Hum. Biol. 14:468–475, 2002.© 2002 Wiley‐Liss, Inc.
Seasonal variation in the dietary adequacy of highland Pwo and Sgaw Karen (Thailand)
Authors: Omori Kinuko , Greksa Lawrence P.
Published: October 2002

The present report describes seasonal variability (postharvest, preharvest, harvest) in the dietary adequacy of highland Karen farmers (38 Pwo and 51 Sgaw mother‐weaned child pairs) in Thailand. Both the Pwo and Sgaw exhibit little functionally significant seasonal variation in either energy or protein intakes, although there is significant seasonal variation in other nutrients. Sgaw Karen mothers and their weaned children had significantly higher intakes of energy, protein, and seven nutrients than their Pwo counterparts during all three study seasons. The cause of this difference appears to be related to the better socioeconomic status of the Sgaw, as well as to differences in belief systems that result in a greater utilization of wild resources by the Sgaw. There were no significant differences in energy intakes between mothers and their children in either ethnic group, while children tended to have significantly greater intakes of protein but significantly lower intakes of other nutrients. These differences in dietary patterns appear to be due to differences in dietary density and dietary preferences, rather than to foods being differentially directed towards adults. Am. J. Hum. Biol. 14:519–531, 2002. © 2002 Wiley‐Liss, Inc.
Occupational determinants of bone and blood lead levels in middle aged and elderly men from the general community: The Normative Aging Study
Authors: Elmarsafawy Sahar F. , Tsaih Shirng‐Wern , Korrick Susan , Dickey Jefferson H. , Sparrow David , Aro Antonio , Hu Howard
Published: October 2002

Background

Few studies of the general population have investigated risk factors for elevated levels of lead in bone in relation to occupation.

Methods

Six hundred and fifty six community‐exposed men had their bone and blood lead levels measured (by K‐X‐ray fluorescence). Based on their occupational histories, participants were categorized into those who worked in white‐collar (WC) occupations (59%) or blue‐collar (BC) occupations (41%). No subjects had worked in a primary lead industry (e.g., smelting).

Results

In multivariate regression models that adjusted for age, race, education, smoking, alcohol ingestion and retirement status, BC subjects had tibia and patella lead concentrations that were 5.5 (95% CI: 3.2–7.8) and 6.5 (95% CI: 3.1–9.8) μg/g higher than WC subjects, respectively. Interaction terms pairing race with occupational status indicated that in non‐white BC subjects, tibia and patella lead levels were higher still by 11.3 (95% CI: −2 to 24.5) and 20.5 (95% CI: 1.2–39.8) μg/g, respectively. Blood lead levels were low for these mostly retired men (mean [SD]: 6.1 [3.9] μg/g) and in multivariate regression models, occupational status was not a significant predictor of blood lead levels; however, an interaction between race and occupational status was also suggested, with non‐white BC subjects having blood lead levels that were predicted to be higher by 4.5 (95% CI: 0.3–8.7) μg/dl.

Conclusions

Bone lead levels are higher in the men who worked in BC occupations even if they have not worked in primary lead‐exposed occupations. This effect is markedly stronger in non‐white BC workers and suggests an interaction between occupational exposures and race/ethnicity with respect to cumulative exposure to lead. A similar interaction was suggested by models of blood lead levels. Am. J. Ind. Med. 42:38–49, 2002. © 2002 Wiley‐Liss, Inc.
Respiratory protection: Associated factors and effectiveness of respirator use among underground coal miners
Authors: Li Hongfei , Wang Mei‐Lin , Seixas Noah , Ducatman Alan , Petsonk Edward Lee
Published: October 2002

Background

We investigated factors associated with the use of respiratory protection and explored the effectiveness of respirators among coal miners.

Methods

Between 1987 and 1992, respiratory symptoms, smoking, lung function, and dust exposures were assessed longitudinally among 185 underground bituminous coal miners. Self‐reported use of respiratory protection was expressed as mean percent time wearing a respirator.

Results

Miners' respirator use increased with mean dust concentration, but decreased with tobacco consumption. Increasing age was associated with greater respirator use. Miners who had respiratory symptoms at the initial survey subsequently reported greater use of respirators. A significant protective association was found between the miners' respirator use and FEV1 levels at both the initial and follow‐up surveys.

Conclusions

These results provide additional evidence that respirator use is protective of lung health. When respiratory protection programs are developed, factors that may affect respirator use behavior, such as age, smoking, and respiratory symptoms, should be considered. Future studies of respiratory health will need to consider workers' use of respiratory protection. Am. J. Ind. Med. 42:55–62, 2002. Published 2002 Wiley‐Liss, Inc.
Induction of ferritin and lipid peroxidation by coal samples with different prevalence of coal workers' pneumoconiosis: Role of iron in the coals
Authors: Zhang Qi , Huang Xi
Published: October 2002

Background

Differences in levels of bioavailable iron (BAI) in coal may be responsible for the observed regional differences in the prevalence and severity of coal workers' pneumoconiosis (CWP).

Methods

Twenty‐nine coal samples from three coal mine regions were tested in human lung epithelial Type II A549 cells. They were from Utah (UT), West Virginia (WV), and Pennsylvania (PA) with a prevalence of CWP of 4, 10, and 26%, respectively.

Results

Low molecular weight (LMW) chelators bound iron, a fraction of BAI in the cells released from coals, ferritin, and lipid peroxidation were significantly higher in cells treated with various coals than in control cells, with an increasing order of UT < WV < PA, in parallel to the prevalence of CWP in these coal mine regions. Deferoxamine (DFO), a specific iron chelator, was used to distinguish effects of BAI from those of other transition metals. Our results indicate that BAI in the coals of WV and UT is the main metal species in inducing ferritin and lipid peroxidation. In contrast, biological effects of PA coals are not only from BAI, but from other transition metals as well.

Conclusions

Based on a large number of coal samples from various seams, the findings of this study provide further evidence that metals, particularly iron, play important roles in coal dust‐induced cellular damage, ultimately leading to the development of CWP and contributing to the regional differences in the prevalence of the disease. Am. J. Ind. Med. 42:171–179, 2002. © 2002 Wiley‐Liss, Inc.
Researching the biology of PXE: Partnering in the process
Authors: Terry Sharon F. , Boyd Charles D.
Published: October 2002

PXE International, a disease advocacy group, plays a central role as a catalyst in several research initiatives focused on the biology, epidemiology, and genetics of pseudoxanthoma elasticum (PXE). These initiatives accelerate research on PXE and provide a basis for several productive collaborative partnerships, including a particularly successful professional relationship between PXE International and the Laboratory of Matrix Pathobiology at the University of Hawaii. This partnership was critical in discovering the PXE gene and in beginning the elucidation of the pathobiology of this genetic disorder. Examination of some of the elements of this partnership may be useful for other lay advocacy/professional collaborations. © 2001 Wiley‐Liss, Inc.
A dimensional impulsive‐aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: A pilot study in well‐characterized impulsive inpatients
Authors: Staner Luc , Uyanik Gökhan , Correa Humberto , Tremeau Fabien , Monreal José , Crocq Marc‐Antoine , Stefos Grigori , Morris‐Rosendahl Deborah J. , Macher Jean Paul
Published: October 2002

Tryptophan hydroxylase (TPH) is the rate‐limiting enzyme in the biosynthesis of serotonin, and association and linkage studies of its variants in suicidal and impulsive‐aggressive behavior have brought conflicting results. This pilot study was designed to investigate whether TPH A218C genotypes could be associated with impulsive behavioral tendencies (IBTs) in consecutively admitted nonpsychotic nonorganic inpatients. Patients (20 females and 34 males; age, 38.8 ± 11.8) did not differ from healthy nonimpulsive controls (16 females and 11 males; age, 35.2 ± 10.2) regarding TPH genotypes, but in the patients, the number of IBT was related to the presence of the 218C allele. It was concluded that impulsive‐aggressive behavior may be associated with the TPH genotype in well‐characterized impulsive patients and that the present results stress the importance of considering impulsiveness‐aggressiveness in studies investigating the relationship between suicidal behavior and TPH genotypes. © 2002 Wiley‐Liss, Inc.
Possible association of a cholecystokinin promoter variant to schizophrenia
Authors: Wang Zhewu , Wassink Thomas , Andreasen Nancy C. , Crowe Raymond R.
Published: October 2002

Several lines of research indicate a cholecystokinin (CCK) deficit in schizophrenia patients. A C to T substitution was found in the promoter region of the CCK gene. We investigated this promoter variant in patients with schizophrenia and geographically‐matchedcontrols. The T allele was detected in 24% of the 85 schizophrenics and 16% of the 247 controls. No significant difference in the T allele frequency was found between patients and controls (χ2 = 2.77, P > 0.1). The schizophrenia sample was analyzed further along the dimensions of positive and negative symptoms. The patients with prominent negative symptoms presented a statistically significant association to the T allele (χ2 = 4.13, P < 0.04). However, the significance disappeared after the Bonferroni correction (P > 0.15). Since the case‐control analysis may present incorrect ethnic match between cases and controls, we applied the family‐based tests to verify the above findings. Both transmission disequilibrium test (TDT; χ2 = 5.33, P < 0.025 in 12 trios) and haplotype relative risk (HRR; χ2 = 3.844, P < 0.05 in 60 trios) indicated a significantly high transmission of T allele to schizophrenia offspring probands from their parents. While our family‐based tests seem to support the CCK involvement in schizophrenia, no definite conclusion can be drawn based on such a small sample size. This preliminary finding is subjected to future investigations. © 2002 Wiley‐Liss, Inc.
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive “SAMS” syndrome
Authors: ter Heide Henriette , Bulstra Sjoerd K. , Reekers Ad , Schrander Jaap J.P. , Schrander‐Stumpel Constance T.R.M.
Published: October 2002

A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome. © 2002 Wiley‐Liss, Inc.
Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature
Authors: Schubert Regine , Eggermann Thomas , Hofstaetter Cornelia , von Netzer Barbara , Knöpfle Gisela , Schwanitz Gesa
Published: October 2002

We report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17‐week‐old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20–99% and the percentage of cells with 47,XX,+18 ranged from 1–80%. The pregnancy was terminated at 22 + 0 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging. © 2002 Wiley‐Liss, Inc.
Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype
Authors: D'Amato Sizonenko Loredana , Ng Daniel , Oei Paul , Winship Ingrid
Published: October 2002

A critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity. © 2002 Wiley‐Liss, Inc.
Facial appearance in persistent hyperinsulinemic hypoglycemia
Authors: de Lonlay Pascale , Cormier‐Daire Valérie , Amiel Jeanne , Touati Guy , Goldenberg Alice , Fournet Jean‐Christophe , Brunelle Francis , Nihoul‐Fékété Claire , Rahier Jacques , Junien Claudine , Robert Jean‐Jacques , Saudubray Jean‐Marie
Published: October 2002

Persistent hyperinsulinism is the most common cause of recurrent hypoglycemia in infancy because of inappropriate oversecretion of insulin by the pancreas. Pancreatic lesions can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated patients presenting with neonatal (n = 8) or infancy‐onset (n = 9) hyperinsulinism. Hyperinsulinism was related to focal adenomatous hyperplasia (n = 7), diffuse hyperinsulinism (n = 5), non‐operated hyperinsulinism (n = 2), and hyperinsulinism with hyperammonemia (n = 3). SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal adenomatous hyperplasia. GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann‐Beckwith syndrome could always be ruled out. All patients presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger patients. These specific facial features, observed in patients with hyperinsulinism of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients. © 2002 Wiley‐Liss, Inc.
Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype‐phenotype correlation
Authors: Kobayashi Takehiro , Uchiyama Makoto , Fukuro Shuhei , Tanaka Kiyoji
Published: October 2002

Xeroderma pigmentosum (XP) is a sun‐sensitive and cancer‐prone genetic disorder consisting of seven genetically distinct complementation groups (groups A–G). XP group D (XP‐D) is a heterogeneous group. Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair (NER) and basal transcription. Therefore, different mutations in XPD may affect NER and transcription activities to various degrees and result in such diverse phenotypes. In this study, we identified six causative mutations, two of which have not been described, in five XP‐D cell strains tested. The cell strains were all compound heterozygotes with different mutations. In all cell strains, one allele was thought to be functionally null and the other was a less severe allele with R683W, R683Q, and R666W substitutions. The second allele in each strain was specific to the XP phenotype. The findings are consistent with the hypothesis that the site of mutation of the XPD gene determines the clinical phenotype, XP or TTD. © 2002 Wiley‐Liss, Inc.
Wolcott‐Rallison syndrome in two siblings with isolated central hypothyroidism
Authors: Bin‐Abbas Bassam , Al‐Mulhim Abdulmohsen , Al‐Ashwal Abdullah
Published: October 2002

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott‐Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott‐Rallison syndrome. © 2002 Wiley‐Liss, Inc.
A 45,X sterile male with Yp disguised as 21p
Authors: Dávalos Ingrid P. , Rivera Horacio , Vásquez Ana I. , Gutiérrez‐Angulo Melva , Hernández‐Vázquez Martha C. , Cortina‐Luna Fidel A. , Wong‐Ley Luis E. , Domínguez‐Quezada María G.
Published: October 2002

An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y‐ and 21‐sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype‐phenotype correlations. © 2002 Wiley‐Liss, Inc.
Genes and translocations involved in POF
Authors: Schlessinger David , Herrera Luisa , Crisponi Laura , Mumm Steven , Percesepe Antonio , Pellegrini Massimo , Pilia Giuseppe , Forabosco Antonino
Published: October 2002

Changes at a single autosomal locus and many X‐linked loci have been implicated in women with gonadal dysgenesis [premature ovarian failure (POF) with deficits in ovarian follicles]. For the chromosome 3 locus, a forkhead transcription factor gene (FOXL2) has been identified, in which lesions result in decreased follicles by haploinsufficiency. In contrast, sporadic X; autosomal translocations are distributed at many points on the X, but concentrate in a critical region on Xq. The association of the breakpoints with genes involved in ovarian function is thus far weak (in four analyzed cases) and has not been related to pathology in other POF patients. While many more translocations can be analyzed in detail as the human genome sequence is refined, it remains possible that translocations like X monosomy (Turner syndrome) lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X‐inactivation during folliculogenesis. It is noted that the critical region has unusual features, neighboring the X‐inactivation center and including an 18 Mb region of very low recombination. These suggest that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations might provoke apoptosis at meiotic checkpoints. Choices among models for the etiology of POF should be feasible based on studies of ovarian follicle development and attrition in mouse models. Studies would prominently include gene expression profiling of developmental‐specific pathways in nascent ovaries with controlled levels of Foxl2 and interacting proteins, or with defined changes in the X chromosome. Published 2002 Wiley‐Liss, Inc.
Fine mapping of the IBD1 locus did not identify Crohn disease‐associated NOD2 variants: Implications for complex disease genetics
Authors: van Heel David A. , McGovern Dermot P.B. , Cardon Lon R. , Dechairo Bryan M. , Lench Nicholas J. , Carey Alisoun H. , Jewell Derek P.
Published: October 2002

Crohn disease (CD) is a chronic relapsing inflammatory condition of the gastrointestinal tract. Recently, polymorphisms in NOD2 (CARD15), a gene mapping to the chromosome 16 IBD1 susceptibility locus, have been associated with susceptibility to CD. One group identified the gene by using classic positional cloning methods. Here, we report linkage and fine mapping analyses using 27 microsatellite markers encompassing the IBD1 susceptibility locus in 131 CD affected sibling pairs, and a simplex family cohort. No evidence for linkage was observed, and microsatellite markers close to NOD2 did not show association. However, significant association was confirmed in 294 CD trios for the NOD2 variants Arg702Trp and Leu1007fsinsC. Our fine mapping study of the IBD1 locus did not enable us to identify NOD2 as a CD gene, despite the presence of association with disease‐causing alleles. This study illustrates the difficulties facing microsatellite linkage and linkage disequilibrium mapping methods for identifying disease genes in complex traits. © 2002 Wiley‐Liss, Inc.
Lack of association of a single‐nucleotide polymorphism of the μ‐opioid receptor gene with anxiety‐related traits: Results from a cross‐sectional study of adults and a longitudinal study of children
Authors: Jorm Anthony F. , Prior Margot , Sanson Ann , Smart Diana , Zhang Yafei , Tan Susan , Easteal Simon
Published: October 2002

There is evidence from animal experiments that the μ‐ and δ‐opioid receptors may play a role in anxiety and depression. It might therefore be expected that functional polymorphisms of these genes in humans are associated with anxiety and depression. We investigated a single‐nucleotide polymorphism (Asn40Asp) of the μ‐opioid receptor gene (OPRM1). This association was investigated in two samples: 1) a cross‐sectional survey of 867 community‐living adults aged 18–79 years who were assessed for anxiety and depression symptoms and related personality traits; and 2) a longitudinal study of childhood temperament in which 660 children were followed from infancy to the mid‐teens and assessed for anxiety‐related temperament and behavior problems. The data did not support a role for the Asn40Asp polymorphism in anxiety and depression, despite adequate statistical power to detect small effects. © 2002 Wiley‐Liss, Inc.
Allele sharing for schizophrenia and schizo‐affective disorder within a region of Homo sapiens specific XY homology
Authors: Nicholson Timothy R.J. , Yang Jian , DeLisi Lynn E. , Crow Timothy J.
Published: October 2002

A case (based upon an association with cerebral asymmetry) has been presented for a gene for psychosis within the Xq21.3/Yp region of homology that is specific to Homo sapiens. We tested this hypothesis using the pentanucleotide marker DXYS 156 that is located within this region. In 84 families affected by schizophrenia or schizo‐affective disorder no tendency toward increased allele sharing amongst siblings was observed (χ2 = 0.002). We conclude either that this region does not include a gene predisposing to psychosis or that if it does, the relevant variation is epigenetic rather than sequence‐based. With respect to the latter possibility we draw attention to the recent evolutionary history of the Xq21.3/Yp region. Genes within the region are in transition to protection from X inactivation and therefore may be epigenetically labile. © 2002 Wiley‐Liss, Inc.
No association between the neuronal nitric oxide synthase gene polymorphism and Alzheimer Disease
Authors: Liou Ying‐Jay , Hong Chen‐Jee , Liu Hsiu‐Chih , Liu Chia‐Yih , Liu Tsung‐Yun , Chen I‐Chun , Tsai Shih‐Jen
Published: October 2002

Nitric oxide synthase (NOS) has been implicated in the pathogenesis of Alzheimer disease (AD). To examine the role of the neuronal NOS (nNOS) gene in AD, patients (n = 139) and control subjects (n = 101) were genotyped for the nNOS dinucleotide polymorphism. No association was demonstrated for AD and this particular nNOS polymorphism. © 2002 Wiley‐Liss, Inc.
Chromosome imbalances associated with epilepsy
Authors: Schinzel Albert , Niedrist Dunja
Published: October 2002

Epilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in theUBE3Agene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.
Influence of lean body mass on performance differences of male and female distance runners in warm, humid environments
Authors: Wright Alison , Marino Frank E. , Kay Derek , Micalos Peter , Fanning Carlie , Cannon Jack , Noakes Timothy D.
Published: October 2002

The purpose of this investigation was to evaluate the influence of lean body mass (LBM) and body weight (BW) on the thermoregulatory responses and endurance performance of male and female athletes in warm, humid environments. Ten (5 males, 5 females) healthy, moderately trained athletes with varying physiques performed a self‐paced 30‐min run on a motorized treadmill in warm (30°C), humid (60% relative humidity) conditions, with the aim of running the greatest distance possible. Males completed one trial, while females completed two trials, one in each of the follicular (Fol) and luteal (Lut) phases of the menstrual cycle in a randomized fashion. There were no significant differences among groups for distance run (males, 5.2 ± 0.4 km; Fol, 4.9 ± 0.1 km; Lut, 4.7 ± 0.1 km). However, following analysis of covariance accounting for LBM and BW, the distances run were significantly different. The adjusted means for distance run after accounting for LBM were 3.4 km for males (P < 0.05), 5.9 km for Fol, and 5.6 km for Lut. Adjusted means accounting for BW resulted in run distances of 6.5 km for males (P < 0.05), 4.2 km for Fol, and 4.0 km for Lut. Thermoregulatory responses such as rectal and skin temperatures were similar among groups. Avenues of heat loss and gain were altered relative to the menstrual cycle phase. The results suggest that one reason for the disparity in performance between male and female athletes over similar race distances might in part be related to unequal body characteristics and in particular to differences in LBM. Am J Phys Anthropol 118:285–291, 2002. © 2002 Wiley‐Liss, Inc.
Are all grandmothers equal? A review and a preliminary test of the “grandmother hypothesis” in Tokugawa Japan
Authors: Jamison Cheryl Sorenson , Cornell Laurel L. , Jamison Paul L. , Nakazato Hideki
Published: October 2002

An unresolved question arising from human evolutionary research relates to the function of the postreproductive period in human females. If menopause is not merely an artifact resulting from the benefits of civilization, there must be an adaptive mechanism favoring the offspring of women who continue to thrive well past the time of their last ovulation. The “grandmother hypothesis” was developed on the basis of the original suggestion by Williams (1957 Evolution 11:32–39) that “stopping early” would benefit already‐born children. This idea, combined with the concepts of kin selection (Hamilton 1964 J Theor Biol 7:1–52) and parental investment (Trivers 1972 Sexual Selection and the Descent of Man, Chicago: Aldine, p. 136–179), was expanded to suggest that postreproductive women (in contrast to males) contribute to their inclusive fitness by extending support to their grandchildren.

We used discrete time event history analysis (Allison [1984] Event History Analysis, Newbury Park: Sage; Allison [1995] Survival Analysis, Cary, NC: SAS Institute) and logistic regression on data provided in population registers (Shūmon Aratame Chō, or SAC) from a village in central Japan, covering the period from 1671–1871, in a preliminary investigation of the effects of household grandparental presence on the probability of a child's death. We found that after accounting for the presence of other household members, the only grandparent whose presence exerted a consistent negative effect on the likelihood of a child's death was the mother's mother. Due to the small sample size of households that contained maternal grandmothers, these results failed to achieve statistical significance. Their importance, however, is in what they suggest about future research, i.e., census data from preindustrial societies can provide a basis for testing evolutionary proposals, including the “grandmother hypothesis.” Am J Phys Anthropol 119:67–76, 2002. © 2002 Wiley‐Liss, Inc.
Differential skeletal preservation at Windover Pond: Causes and consequences
Authors: Stojanowski Christopher M. , Seidemann Ryan M. , Doran Glen H.
Published: October 2002

In this paper, we evaluate the causes of differential skeletal preservation in the Windover Pond skeletal series (8BR246). We collected data on sex and age for approximately 110 individuals, and calculated a preservation score for each individual based on the presence of 80 skeletal landmarks. Our research questions evaluated the relationship between bone preservation and individual age and sex, and between the presence of preserved brain material and skeletal preservation, and the effects of burial location on bone preservation. The results indicate variability in average preservation for the sample (μ = 0.53, SD = 0.22) with an apparent lack of sex‐specific (P= 0.79) or age‐specific (P= 0.37) differences in preservation. The relationship between brain and skeletal preservation (P= 0.15) was not significant. The horizontal distribution of burials was not significantly correlated with skeletal preservation (north: r = −0.10,P= 0.93; east: r = 0.09,P= 0.45); however, vertical depth was a significant predictor of preservation (r = −0.31,P= 0.005), indicating that skeletal preservation decreased as burials were located closer to the ground surface. The observed variability in preservation scores may be related to the partial drying and resubmergence of the uppermost burials for the last few millennia. Comparison of Windover element‐specific survival rates with previous analyses based on terrestrial samples (Galloway et al. [1997] Forensic taphonomy, Boca Raton: CRC Press; Waldron [1987] Death, decay and reconstruction, Manchester: Manchester University Press; Willey et al. [1997] Am J Phys Anthropol104:513–528) affirms the relationship between element weight or density and bone survival. The unique taphonomic context of our study sample effected little change in bone deterioration processes. Am J Phys Anthropol 119:15–26, 2002. © 2002 Wiley‐Liss, Inc.
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome
Authors: Jordens Eric Z. , Palmieri Luigi , Huizing Marjan , Van Den Heuvel Lambert P. , Sengers Rob C. A. , Dörner Andrea , Ruitenbeek Wim , Trijbels Frans J. , Valsson Jullius , Sigfusson Gunnlaugur , Palmieri Ferdinando , Smeitink Jan A. M.
Published: October 2002

Sengers syndrome is characterized by congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis, but no abnormalities have been found with routine mitochondrial biochemical diagnostics (the determination of pyruvate oxidation rates and enzyme measurements). In immunoblot analysis, the protein content of the mitochondrial adenine nucleotide translocator 1 (ANT1) was found to be strongly reduced in the muscle tissues of two unrelated patients with Sengers syndrome. In addition, low residual adenine nucleotide translocator activity was detected upon the reconstitution of detergent‐solubilized mitochondrial extracts from the patients' skeletal or heart muscle into liposomes. Sequence analysis and linkage analysis showed that ANT1 was not the primary genetic cause of Sengers syndrome. We propose that transcriptional, translational, or posttranslational events are responsible for the ANT1 deficiency associated with the syndrome.
Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion
Authors: Hershkovitz Eli , Narkis Ginat , Shorer Zamir , Moser Ann B. , Watkins Paul A. , Moser Hugo W. , Manor Esther
Published: October 2002

An 8.5‐year‐old girl with a pathogenic mutation (515insC) of the ATP‐binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the paternally derived X chromosome. A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X‐linked adrenoleukodystrophy heterozygotes.
Preparation and adsorption properties of poly(N‐vinylformamide/acrylonitrile) chelating fiber for heavy metal ions
Authors: Lin Hai , Kimura Mutsumi , Hanabusa Kenji , Shirai Hirofusa , Ueno Nobuhiko , Mori Yasuharu
Published: October 2002

In this article we report a new chelating fiber that was prepared from a hydrolyzate of poly(N‐vinylformamide/acrylonitrile) by a wet‐spinning method. This fiber contains chelating groups, such as amidine groups, amino groups, cyano groups, and amide groups, with high densities. We examined the chelating abilities for several metal ions with this fiber, and present the morphological merit of the fibrous product compared with the globular resin. Based on the research results, it is shown that the fiber has higher binding capacities and better adsorption properties for heavy metal ions than the resin. The pH value of the metal ion solution shows strong influences on the adsorption of the metal ions. The maximum adsorption capacities of the fiber for Cu2+, Cr3+, Co2+, Ni2+, and Mn2+ are 112.23, 88.11, 141.04, 108.06, and 73.51 mg/g, respectively. In mixed metal ions solution, the fiber adsorbs Cr3+, Cu2+ and Co2+ efficiently. The adsorbed metal ions can be quantitatively eluted by hydrochloric acid. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 1378–1386, 2002
Optimization of polymer synthesis through distributed control of polymerization conditions
Authors: Faliks Aviel , Yetter Richard A. , Floudas Christodoulos A. , Wei Yen , Rabitz Herschel
Published: October 2002

An optimal control methodology is applied to the goal of lowering polydispersity while increasing conversion in polymerization reactions. An illustration using initiator, heat, and monomer flux control profiles for free‐radical polymerization of styrene in a plug flow reactor is provided and compared with available experimental data. The design calculations use a kinetic model that includes the gel effect. The reactor designs show that distributed initiator, heat, and monomer fluxes along the length of the reactor lower the polydispersity of the styrene polymers and increase conversion for a given reaction time. The monomer flux maintains a nearly constant monomer concentration in the reactor. The initiator and heat fluxes are highly correlated. The temperature rises as a result the heat flux; but the initiator flux results in a lower initiator concentration relative to the initiator cofeed case. At a reaction time of 120 min, a conversion of 44% and a polydispersity of 1.73 have been achieved. The theoretical designs, although not proven to be globally optimal, are of high quality. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 85: 2922–2928, 2002