bluuebunny/crossref_metadata_2025_split huggingface dataset:
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders
Authors: Keller Kory , Williams Charles , Wharton Paul , Paulk Martha , Bent‐Williams Angela , Gray Brian , Ward Angie , Stalker Heather , Wallace Margaret , Carter Randy , Zori Roberto 
Published: February 2003

AbstractTo assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G‐banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader‐Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11‐q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects. © 2003 Wiley‐Liss, Inc.
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy
Authors: Lo Nigro Cristiana , Cusano Roberto , Gigli Gian Luigi , Forabosco Paola , Valente Mariarosaria , Ravazzolo Roberto , Diomedi Marina , Seri Marco 
Published: February 2003

AbstractWe have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3‐q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3‐q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22‐p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed. © 2003 Wiley‐Liss, Inc.
Molecular characterization of a 12q22‐q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus
Authors: Petek Erwin , Windpassinger Christian , Mach Monika , Rauter Ludwig , Scherer Stephen W. , Wagner Klaus , Kroisel Peter M. 
Published: February 2003

AbstractThe DFNA25 locus for autosomal dominant nonsyndromic hereditary hearing loss has been mapped to 12q21‐q24 by linkage analysis. A de novo deletion in a six‐year‐old boy with congenital hearing loss as well as mental and motor retardation now provides independent confirmation of this genetic localization and narrows the critical interval to 13 cM in the 12q22‐q24.1 region. Mapping of the deletion was performed using fluorescence in situ hybridization (FISH) analysis with region‐specific yeast artificial chromosome (YAC) clones. Ten YACs 929_e_4, 959_c_3, 746_h_7, 817_h_10, 886_a_6, 916_h_9, 969_c_12, 747_e_2, 812_h_12, and 959_f_8 were absent from one chromosome 12 from the patient. Molecular analyses of eight polymorphic markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 12 is of paternal origin. Several known genes including ATP2A2, UBE3B, and VR‐OAC that map in the 12q22‐q24.1 region are included in the deletion. These results provide evidence that haploinsufficiency for a gene or genes in 12q22‐q24.1 is associated with autosomal dominant deafness. © 2003 Wiley‐Liss, Inc.
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability
Authors: Marini Monica , Cusano Roberto , De Biasio Pierangela , Caroli Francesco , Lerone Margherita , Silengo Margherita , Ravazzolo Roberto , Seri Marco , Camera Gianni 
Published: February 2003

AbstractHoloprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans, with a frequency of 1/16,000 live births. Different genes are implicated in the pathogenesis of HPE; these include SHH, ZIC2, SIX3, TGIF, and human DKK1. We describe here a family with recurrence of autosomal dominant HPE in different members showing a wide clinical variability. The mother presents a single central maxillary incisor and mild hypotelorism as signs of the diseases, while three of her sons were affected by HPE. By direct sequencing and restriction analysis of exon 2 of the SHH gene, we have identified a previously undescribed nonsense mutation at codon 128 (W128X). The identification of this mutation allowed us to give a prenatal diagnosis in this family and confirms a wide intrafamilial variabilty in the phenotypic spectrum. © 2003 Wiley‐Liss, Inc.
CHARGE association and secondary hypoadrenalism
Authors: James Paul A. , Aftimos Salim , Hofman Paul 
Published: February 2003

AbstractHypogonadotrophic hypogonadism is a well‐described part of the CHARGE association. It has been suggested that more extensive defects of the pituitary function may occur, but this has not been reported in the medical literature. We report a patient with CHARGE association who, in addition to the cardinal manifestations, was found to have hypoadrenalism of pituitary/hypothalamic origin. The patient also has findings typical of the overlap of CHARGE and the 22q11 deletion syndrome, as well as an unusual cervical vertebral abnormality. © 2002 Wiley‐Liss, Inc.
Teebi hypertelorism syndrome: Additional cases
Authors: Machado‐Paula Ligiane Alves , Guion‐Almeida Maria Leine 
Published: February 2003

AbstractWe report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed. © 2002 Wiley‐Liss, Inc.
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families
Authors: Savarirayan Ravi , White Susan M. , Goodman Frances R. , Graham John M. , Delatycki Martin B. , Lachman Ralph S. , Rimoin David L. , Everman David B. , Warman Matthew L. 
Published: February 2003

AbstractCDMP‐1, a cartilage‐specific member of the TGFß superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the developing vertebrate skeleton. Homozygous CDMP‐1 mutations cause Hunter‐Thompson and Grebe types of acromesomelic chondrodysplasia and DuPan syndrome in humans, as well as brachypodism in mice, while heterozygous mutations cause brachydactyly type C (BDC). We present clinical and radiographic data from three unrelated families in which 12 members share the same heterozygous CDMP‐1 mutation, an insertion (insG206), resulting in a frameshift predicted to cause functional haploinsufficiency. Although eight mutation carriers display BDC, four have normal hands and feet, confirming nonpenetrance of BDC with CDMP‐1 mutations. In addition, several carriers have other skeletal abnormalities, including severe bilateral vertical talus (in two), developmental hip dysplasia (in one), and short stature (in two, who are otherwise unaffected). Premature vertebral end‐plate disease was observed in four mutation carriers and was associated with spondylolysis and spondylolisthesis in three of these. Axial skeletal involvement has not been previously reported in association with CDMP‐1 mutations. This finding is consistent with CDMP‐1 expression in human hypertrophic chondrocytes, which are present in the ring epiphyses of vertebral end plates. Phenotypic variation in BDC has previously been attributed either to locus heterogeneity or to the varied functional effects of different CDMP‐1 mutations. The remarkable range of phenotypes caused by this identical CDMP‐1 mutation in these families emphasizes the crucial role of genetic background, stochastic variation and/or environmental factors in modifying the observed phenotype. Our findings illustrate that nonpenetrance for the typical features of BDC can be appreciable and that atypical skeletal features that have been reported in some patients with BDC (i.e., clubfoot, short stature, spondylolysis) may also result from CDMP‐1 mutation. © 2002 Wiley‐Liss, Inc.
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients
Authors: Nishimura Gen , Honma Tomomi , Shiihara Takashi , Manabe Noriyo , Nakajima Eiji , Adachi Masanori , Mikawa Makoto , Fukushima Yoshimitsu , Ikegawa Shiro 
Published: February 2003

AbstractWe describe a 5‐year‐old boy and a 33‐year‐old woman with spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form (spondyloepimetaphyseal dysplasia with multiple dislocations) (MIM 6003546), and two 12‐year‐old girls with the disorder who were previously reported as examples of a variant of sponatrime dysplasia. Their clinical manifestations included midface hypoplasia, micromelic short stature, and generalized joint laxity that caused multiple joint problems, including thoracolumbar scoliosis, hip subluxation, progressive genu valgum with knee and patellar subluxation, elbow subluxation, and malalignment of the wrist. Laryngotracheomalacia was present in two individuals, and myopathy was noted in one. The radiological findings in the four individuals included mild platyspondyly most conspicuous in infancy, narrow interpediculate distances of the lumbar spine evident in infancy, retarded epiphyseal ossification that evolved to epiphyseal dysplasia and later to degenerative joint disease, metaphyseal irregularities and striations present in early childhood, and leptodactylic appearance (slender short tubular bones) of the hand. © 2002 Wiley‐Liss, Inc.
Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk
Authors: Armstrong Katrina , Weber Barbara , Stopfer Jill , Calzone Kathleen , Putt Mary , Coyne James , Schwartz J. Sanford 
Published: February 2003

AbstractWhen BRCA1/2 testing became commercially available in 1996, many U.S. experts voiced concern about the potential for indiscriminate use of testing among low‐risk women. Supporting this concern, several early surveys of interest in genetic testing suggested that genetic testing for cancer susceptibility might appeal most to individuals at low risk of carrying a mutation. To identify factors associated with early use of clinical BRCA1/2 testing, a case‐control study was conducted at a large academic health system in the metropolitan Philadelphia region. A total of 167 women underwent genetic counseling for clinical BRCA1/2 testing between 1996 and 1997 (cases) compared with 138 women who were seen in faculty general internal medicine practices over the same period (controls). In this study we measured the risk factors for breast cancer, the risk factors for carrying a BRCA1/2 mutation, and sociodemographic characteristics. Use of BRCA1/2 counseling between 1996 and 1997 was positively associated with family but no personal history of breast cancer (odds ratio (OR), 22.4; 95% confidence interval (CI), 9.3–54.3); family and personal history of breast cancer (OR, 150.3; 95% CI, 24.1–939.6); being Caucasian and non‐Jewish (OR, 4.1; 95% CI, 1.3–13.5); being Caucasian and Jewish (OR, 8.8; 95% CI, 2.2–35.5); and being married (OR, 3.2; 95% CI, 1.6–6.3). Use of BRCA1/2 counseling was inversely associated with increasing age (OR, 0.07; 95% CI, 0.02–0.28 for >60 compared to <50). As suggested by the association with family history, use of counseling was associated with having a higher predicted risk of breast cancer and a higher predicted risk of carrying a BRCA1 mutation (P < 0.0001). Women who sought clinical BRCA1/2 testing in the year after it became commercially available were not the “worried well,” but women at significantly increased risk of carrying a mutation. However, even after adjusting for breast cancer risk, there was a substantial racial disparity in use of BRCA1/2 testing. These findings suggest that ensuring equal access to testing for high‐risk individuals irrespective of race may be as important for the future of predictive genetic testing as restricting the use of testing among low‐risk individuals. © 2002 Wiley‐Liss, Inc.
Mitochondrial DNA evidence for admixed origins of central Siberian populations
Authors: Pakendorf Brigitte , Wiebe Victor , Tarskaia Larissa A. , Spitsyn Victor A. , Soodyall Himla , Rodewald Alexander , Stoneking Mark 
Published: February 2003

AbstractThe Yakuts of northeastern Siberia are a Turkic‐speaking population of horse‐ and cattle‐breeders surrounded by Tungusic‐speaking reindeer‐herders and hunter‐gatherers. Archaeological and ethnohistorical data suggest that Yakuts stem from a common ancestral population with the Buryats living near Lake Baikal. To address this hypothesis, we obtained sequences of the first hypervariable segment (HV1) of the mitochondrial DNA control region from Yakuts and Buryats and compared these with sequences from other Eurasian populations. The mtDNA results show that the Buryats have close affinities with both Central Asian Turkic groups and Mongols, while the Yakuts have close affinities with northeastern Siberian, Tungusic‐speaking Evenks and south Siberian, Turkic‐speaking Tuvans. This different ancestry of the Yakuts and the Tuvans (compared with other Turkic‐speaking groups) most likely reflects extensive admixture that occurred between Turkic‐speaking steppe groups and Evenks as the former migrated into Siberia. Moreover, the Yakuts are unique among Siberian populations in having a high number of haplotypes shared exclusively with Europeans, suggesting, contrary to the historical record, that occasionally Yakut men took Russian women as wives. Am J Phys Anthropol 120:211–224, 2003. © 2003 Wiley‐Liss, Inc.
Nonalimentary tooth use in prehistory: An example from early Holocene in Central Sahara (Uan Muhuggiag, Tadrart Acacus, Libya)
Authors: Minozzi Simona , Manzi Giorgio , Ricci Francesca , di Lernia Savino , Borgognini Tarli Silvana M. 
Published: February 2003

AbstractSigns of nonalimentary tooth use were observed on the dentition of an adult male from a single burial excavated in an area close to the Uan Muhuggiag rock shelter (Tadrart Acacus, Libya), dated to more than 7800 uncalibrated years BP, that represents the most ancient human remain found in the Libyan Sahara, and provides a first glimpse of human adaptation in the early Holocene of this region. The wear pattern shows large grooves running across the occlusal surfaces of maxillary and mandibular anterior teeth and premolars. The results of macroscopic and microscopic observation, together with scanning electron microscope (SEM) examination and experimental tests, suggest that the microdamage might be due to repeated friction of vegetal fibers, probably as a consequence of basket making, net production, or mat processing. Further data are needed to allow us to distinguish among plant‐oriented activities related to food acquisition (e.g., rope and net processing), food storage (e.g., basket making), or domestic handicraft (e.g., mat processing), whose implications may generate different interpretations of sexual division of labor. Am J Phys Anthropol 120:225–232, 2003. © 2003 Wiley‐Liss, Inc.
A New and Practical Method for Preparing Enantiomerically Pure [1,1′‐Binaphthalene]‐2,2′‐diol: Resolution of Racemic [1,1′‐Binaphthalene]‐2,2′‐diol with threo‐(1S,2S)‐2‐Amino‐1‐(4‐nitrophenyl)propane‐1,3‐diolCyclohexanone Condensate
Authors: Liu Dejun , Shan Zixing , Liu Fei , Xiao Chunguang , Lu Guojian , Qin Jingui 
Published: February 2003

AbstractAn economic and practical method for preparing enantiomerically pure [1,1′‐binaphthalene]‐2,2′‐diols is reported. Thus, a condensate of threo‐(1S,2S)‐2‐amino‐1‐(4‐nitrophenyl)propane‐1,3‐diol and cyclohexanone (CHANP) was used as a resolving agent. A 2 : 1 : 1 mixture of racemic [1,1′‐binaphthalene]‐2,2′‐diol, boric acid, and CHANP was refluxed for several hours in THF or MeCN to give a white precipitate of bis{(R)‐[1,1′‐binaphthalene]‐2,2′‐diol}boric acid CHANP derivative, from the precipitate, and a filtrate separated from the precipitate, (R)‐ and (S)‐[1,1′‐binaphthalene]‐2,2′‐diol of 100% ee were obtained in ca. 65% yield, respectively.
Asymmetric Synthesis of the cis‐ and trans‐3,4‐Dihydro‐2,4,8‐trihydroxynaphthalen‐1(2H)‐ones
Authors: Couché Emmanuel , Fkyerat Abdellatif , Tabacchi Raffaele 
Published: February 2003

AbstractA short and efficient protocol for the asymmetric synthesis of cis‐ and trans‐3,4‐dihydro‐2,4,8‐trihydroxynaphthalen‐1(2H)‐one (1 and 2, resp.) is described, with a phthalide annulation as the key step. Introduction of a OH substituent at position 2 was performed by Sharpless dihydroxylation of a silyl enol ether or by means of an N‐sulfonyloxaziridine. The absolute configuration of each isomer was determined via Mosher‐ester derivatives. By comparison with previously recorded CD spectra of our natural sample, we established that the natural trans‐ and cis‐isomers from Ceratocystis fimbriata sp. platani were the (−)‐(2S,4S)‐isomer (−)‐2 and the (+)‐(2S,4R)‐isomer (+)‐1, respectively.
Konfiguration und enantioselektive Synthese des Pilzmetaboliten WF14861
Authors: Detterbeck Richard , Hesse Manfred 
Published: February 2003

AbstractA short enantioselective synthesis of the cathepsine inhibitor WF14861 (1) from the funghi Colletotrichum sp. as well as of its diasteroisomer 21 is presented. Comparison of the NMR data of the final products and, in particular, of the [α]D values of the intermediates allowed the confirmation of the formerly proposed structure 1. In addition, the so far unknown absolute configuration of all three stereogenic centres of WF14861 could be established by this synthesis.
Malaria in irrigated agriculture
Authors: Boelee Eline 
Published: February 2003

AbstractThe CGIAR System‐wide Initiative on Malaria and Agriculture, SIMA, organized a special seminar on Malaria in Irrigated Agriculture at the ICID 18th International Congress on Irrigation and Drainage, 23 July 2002, Montreal. Five oral presentations, six posters and a lively discussion provided a wealth of information on the linkages between irrigation or drainage and malaria transmission in Burkina Faso, Côte d'Ivoire, India, Malaysia, Mali, the Netherlands, Pakistan, Sri Lanka, Tanzania, and Zimbabwe. The economic impact of the disease on agricultural incomes can be quite substantial. Malaria was strongly associated with waterlogging, with poor maintenance of irrigation systems and with rice cultivation. Several presenters made recommendations for environmental measures to reduce malaria and a few reported on actually implemented interventions. Most important recommendations from the seminar were increased collaboration between the water and health sectors, and contextuality: the need to consider the context of mosquito ecology, disease and environment in every case. Only then can specific and innovative intervention approaches be identified and applied to help fight malaria. Moreover, if irrigation and drainage indeed bring economic development to the rural areas, the population will benefit in terms of better health and less malaria. Copyright © 2003 John Wiley & Sons, Ltd.
Coping with water scarcity: water saving and increasing water productivity
Authors: Hamdy A. , Ragab R. , Scarascia‐Mugnozza Elisa 
Published: February 2003

AbstractThe increasing scarcity of water in dry areas is now a well‐recognized problem. According to the World Commission on Environment and Development, approximately 80 countries with 40% of the world population already suffer from serious water shortages.At present, water shortages have led most of arid and semi‐arid countries to increase food imports because the local agricultural sector is not able to produce sufficient food to fill the existing food gaps. The increasing food gaps are posing serious challenges beyond the economic and political capacity required for the necessary adjustments concerning the allocation and use of water in all sectors, particularly agriculture.The agricultural sector is by far the largest user of water in the world. On a consumptive use basis, 80–90% of all the water is consumed in agriculture. Unfortunately, water use efficiency in this sector is very poor not exceeding 45% with more than 50% water losses; thereby, enormous water saving could be achieved in the agricultural sector comparable with other sectoral water uses.The growing water scarcity and the misuse and management of the available water resources are nowadays major threats to sustainable development for the various sectors, especially domestic, industrial and agricultural.Today, in most countries suffering water shortages, at the heart is the question of whether a water crisis can be averted or whether water can be made productive. Increasing the productivity of water is central to producing food, to fighting poverty, to reducing competition for water and to ensuring that there is enough water for nature. The more we produce with less water and/or with the same amount of water, the less the need for infrastructure development, the fewer the conflicts among the sectoral water uses, the greater the local food security and the more water for agricultural, household and industrial uses, and the more that remains in nature. However, to achieve such goals, major improvements are still required in water resource use and irrigation technology and management. Meeting such challenges will require a far greater effort and significant changes in how water is managed. What needs to be changed? What are the improvements required to cope with increased water scarcity?These are the issues to be discussed in this paper: addressing the appropriate techniques and proper tools to be adopted for increasing the productivity of water through water saving, and improving the rates in water use efficiency in the irrigation sector coupled with better management systems for water conveyance, allocation and distribution. Copyright © 2003 John Wiley & Sons, Ltd.
“Dripping with success”: the challenges of an irrigation redevelopment project
Authors: Merry R. E. 
Published: February 2003

AbstractIrrigation is vital to sugarcane production at the Simunye sugar estate in Swaziland. When full commercial production commenced in 1982 the estate had two main irrigation systems, dragline sprinkler and surface furrow, but in later expansions surface drip irrigation was used. By the mid‐1990s there was increasing demand on water resources for further sugarcane expansion and with the infield sprinkler equipment showing signs of wear and tear, Simunye estate looked into irrigation redevelopment. A cost analysis of seven different irrigation options was undertaken and the one that offered the best return was conversion of the dragline sprinkler system to subsurface drip. The redevelopment project commenced in 1998 and so far 4000 ha have been converted from sprinkler to drip. The system design uses a novel cluster house concept for controlling irrigation water and fertigation to cane blocks of about 100 ha. Radio controllers are used to provide automatic operation of pumps, valves and irrigation schedules. A post‐investment audit conducted in 1999 confirmed a sucrose increase of 15% and water saving of 22% compared to the sprinkler system, better than originally expected. Further analysis undertaken in 2001 revealed even better figures. Copyright © 2003 John Wiley & Sons, Ltd.