bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cardiovascular abnormalities associated with the Stuve–Wiedemann syndrome
Authors: Raas‐Rothschild Annick , Ergaz‐Schaltiel Zivanit , Bar‐Ziv Jakob , Rein Azaria J.J.T. 
Published: August 2003

AbstractThe Stuve–Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones. Affected patients present with respiratory difficulties in the neonatal period or later and recurrent episodes of hyperthermia. The typical radiological findings are bowing of the long bones of the lower limbs, wide metaphyses with decreased density, and abnormal trabecular pattern. Generally, respiratory insufficiency and hyperthermia are reported to be the cause of death. We report on two sibs with SWS, who died from severe pulmonary hypertension with pulmonary artery wall abnormality. We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. We hypothesize that the severe pulmonary hypertension due to the arterial wall abnormality could explain the neonatal death of these two children. © 2003 Wiley‐Liss, Inc.
Prostate cancer is part of the hereditary non‐polyposis colorectal cancer (HNPCC) tumor spectrum
Authors: Soravia Claudio , van der Klift Heleen , Bründler Marie‐Anne , Blouin Jean‐Louis , Wijnen Juul , Hutter Pierre , Fodde Riccardo , Delozier‐Blanchet Célia 
Published: August 2003

AbstractThe recognized urologic tumor spectrum in hereditary non‐polyposis colon cancer includes ureteral and renal pelvis malignancies. Here, we report a family in which the proband, who had three metachronous adenocarcinomas of the colon and rectum (at ages 54, 57, and 60), presented with an adenocarcinoma of the prostate at age 61. Immunohistochemical (IHC) staining of colonic, rectal, and prostatic tumor tissues demonstrated lack of expression of both MSH2 and MSH6. Accordingly, microsatellite instability (MSI) was found in the rectal, colonic, and prostatic tumors. The kindred complies with the Amsterdam criteria for HNPCC, as five members over three generations had colorectal cancer. Molecular investigations were initiated when the proband's son presented with an adenocarcinoma of the colon at age 35. Southern blotting analysis of genomic DNA led to identification of a novel genomic deletion encompassing exon 5 of the MSH2 gene. Although prostate cancer has occasionally been described in HNPCC families, to the best of our knowledge, this is the first report where the MSI and IHC analysis of the prostatic adenomcarcinoma clearly link its aetiology to the germline mismatch repair mutation. Hence, prostate cancer should be included in the HNPCC tumor spectrum. © 2003 Wiley‐Liss, Inc.
Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps
Authors: Botto Lorenzo D. , Mulinare Joseph , Erickson J. David 
Published: August 2003

AbstractCongenital heart defects are among the most common congenital anomalies and are the leading cause of infant death due to congenital anomalies. Except for a few known measures, effective primary prevention is not yet feasible for most heart anomalies. Recent reports have associated the use of multivitamin supplements around the time of conception and during early pregnancy with a reduced risk for heart defects in the offspring. We review and discuss the evidence and suggest a framework for further investigation in this area. Published 2003 Wiley‐Liss, Inc.
Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes
Authors: Kovaleva Natalia V. , Shaffer Lisa G. 
Published: August 2003

AbstractAcrocentric rearrangements are the most common chromosome abnormalities in humans. Carriers of homologous acrocentric rearrangements (Robertsonian translocations (ROBs) between homologous chromosomes and isochromosomes) are at very high risk of having multiple spontaneous abortions and chromosomally abnormal offspring. Parents of fetuses and children with unbalanced homologous acrocentric rearrangements are rarely found to be carriers or mosaic for the same rearrangement. Even though recurrent miscarriages may indicate a carrier parent, carriers are rarely identified. Comparison of non‐chromosome 21 homologous rearrangements to rea(21q21q) culled from the literature revealed a 7‐fold decrease in the number of mosaic cases among the parents of non‐rea(21q21q) offspring. This under‐ascertainment in parents may be due to low level mosaicism confined to the gonads, a true biological difference between chromosome 21 rearrangements and other homologous acrocentric rearrangements, or simply to the lack of rigorous clinical investigation of the parental karyotypes to uncover mosaicism. We recommend that polymorphic marker analysis be applied to apparently de novo acrocentric rearrangements to distinguish those resulting from biparental postzygotic formation from those resulting from meiotic formation; the latter of which may indicate a potential carrier parent. Parental chromosomal constitutions could then be screened in a large number of cells and in more than one tissue type to identify mosaicism. Identification of mosaicism allows for accurate genetic counseling and discussion of reproductive options. However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found. © 2003 Wiley‐Liss, Inc.
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
Authors: Galjaard Robert‐Jan H. , van der Linde Herma C. , Eussen Bert H. J. , de Vries Bert B. A. , Wouters Cokkie H. , Oostra Ben A. , Graaff Esther de , Heutink Peter 
Published: August 2003

AbstractPostaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP‐B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP‐B phenotype. We present the first case of an individual with isolated PAP‐B and a submicroscopic chromosome abnormality. © 2003 Wiley‐Liss, Inc.
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Authors: Bergmann Carsten , Zerres Klaus , Peschgens Thomas , Senderek Jan , Hörnchen Helmut , Rudnik‐Schöneborn Sabine 
Published: August 2003

AbstractWe describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo‐auriculo‐vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the “axial mesodermal dysplasia complex” (AMDC) which is supposed to arise from disturbed mesodermal cell migration during early blastogenesis. The present case was instructive to review the continuous spectrum of AMDC related anomalies. © 2003 Wiley‐Liss, Inc.
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
Authors: De Meirleir Linda , Seneca Sara , Damis Eliane , Sepulchre Brigitte , Hoorens Anne , Gerlo Erik , García Silva M. Teres , Hernandez Elena Martín , Lissens Willy , Van Coster Rudy 
Published: August 2003

AbstractWe investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (BCS1L) gene was undertaken. Direct sequencing revealed a missense mutation R45C and a nonsense mutation R56X, both located in exon 1 of BCS1L. The missense mutation in combination with a loss of function of the second allele is responsible for the isolated complex III deficiency in this family. © 2003 Wiley‐Liss, Inc.
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra‐familial association study in an eight‐generation hyperlipidemic kindred
Authors: Takada Daisuke , Ezura Yoichi , Ono Shuji , Iino Yasuhiko , Katayama Yasuo , Xin Yuanpei , Wu Lily L. , Larringa‐Shum Stacey , Stephenson Susan H. , Hunt Steven C. , Hopkins Paul N. , Emi Mitsuru 
Published: August 2003

AbstractDefect of growth hormone receptor (GHR) is classically known to cause Laron syndrome, characterized by short stature, specific facial appearance, elevated serum growth hormone levels, and decreased insulin‐like growth factor I levels. In addition, an increased cardiovascular risk due to elevated plasma total and LDL cholesterol levels marks another feature of the disease. Growth hormone (GH) plays an important role in the regulation of lipoprotein metabolism. GH status was found to be an independent determinant of plasma total cholesterol and triglyceride levels in humans. We studied a total of 207 members of eight‐generation extended family of familial hypercholesterolemia (FH) in which affected members presented with various lipoprotein phenotypes. Intra‐familial correlation analysis of a modifier effect of a Leu526Ile substitution in GHR gene was carried out among 95 carriers for LDL receptor gene (LDLR) mutation and 112 non‐carriers. When plasma high‐density lipoprotein cholesterol (HDL‐c) levels in the LDLR‐mutation carriers were compared, a significant lowering effect of HDL‐c was observed with the Leu allele; the values were lowest among Leu/Leu homozygotes (mean ± SD = 37 ± 2 mg/dl), highest in Ile/Ile homozygotes (50 ± 4 mg/dl), and intermediate among Leu/Ile heterozygotes (41 ± 2 mg/dl) (P = 0.0021). The results indicate a significant modification of the phenotype of FH with the defective LDLR allele, by GHR Leu variation in the kindred studied. © 2003 Wiley‐Liss, Inc.
Talo‐patello‐scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?
Authors: Singh Jasvinder A. , Williams Calvin B. , McAlister William H. 
Published: August 2003

AbstractOsteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal‐tarsal osteolysis, Torg, François, Whyte‐Hemingway, Hajdu‐Cheney, Winchester, and other forms have been described. Most present in pre‐school years with extensive involvement and destruction of multiple bones. We present a sister‐pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister‐pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance. © 2003 Wiley‐Liss, Inc.
Segmental neurofibromatosis in childhood
Authors: Listernick Robert , Mancini Anthony J. , Charrow Joel 
Published: August 2003

AbstractSegmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF‐1) limited to one area of the body. It results from a post‐conceptional mutation in the NF‐1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF‐1 demonstrates that it is commonly seen in a pediatric NF‐1 referral center. The mean age at diagnosis was 7.8 years (range: 2–25 years). Twenty‐nine patients had only pigmentary manifestations of segmental NF‐1, including seven who had only café‐au‐lait macules and 22 who had café‐au‐lait macules and freckling. Two patients had isolated plexiform neurofibromas; a third patient had a plexiform neurofibroma of the eyelid in addition to ipsilateral dysplasia of the sphenoid wing and Lisch nodules. A 12‐year‐old girl had an isolated tibial pseudarthrosis. An 8‐year‐old boy had an isolated optic pathway tumor, which behaved both biologically and radiographically as an NF1‐associated tumor. While most children with segmental NF‐1 have only localized pigmentary changes, some children will have isolated plexiform neurofibromas, pseudarthroses, or optic pathway tumors. Accurate diagnosis of segmental NF‐1 is crucial for both management and genetic counseling. © 2003 Wiley‐Liss, Inc.
Molecular characterization of an inherited ring (19) demonstrating ring opening
Authors: Speevak Marsha D. , Smart Carolin , Unwin Lianne , Bell Morag , Farrell Sandra A. 
Published: August 2003

AbstractRing chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end‐to‐end fusion of the telomeres. The phenotype of ring carriers is unpredictable, and developmental abnormalities may occur even when the ring appears to be structurally balanced. This is believed to be due to mitotic instability from abnormal segregation and sister chromatid exchange in somatic cells. Although ring chromosomes usually arise as de novo events, transmittal from mosaic carriers to offspring sometimes occurs. In such cases, offspring with ring mosaicism in combination with a normal cell line remain unexplained. In this report, we used detailed molecular and cytogenetic analyses of a prenatally detected, inherited ring (19) to observe the behavior of the ring chromosome in culture, and to investigate the mechanism of inherited ring chromosome mosaicism. © 2003 Wiley‐Liss, Inc.
ABase—A tool for the rapid assessment of anthropometric measurements on handheld computers
Authors: Zankl Andreas , Molinari Luciano 
Published: August 2003

AbstractAnthropometry is widely recognized as an important method in the evaluation of dysmorphic children. Nevertheless, it has never gained widespread clinical use. We believe that this has mainly practical reasons: appropriate growth charts are not readily available at the bedside or in clinic and taking multiple measurements and plotting them into corresponding growth charts is a time‐consuming task. Here we describe a computer program that overcomes both problems: ABase compares entered anthropometric measurements to a database of age‐ and sex‐matched reference values, calculates the centile rank and displays the result either as text or as a digitized growth chart. The program runs on small handheld computers that can easily be carried around in a shirt pocket. © 2003 Wiley‐Liss, Inc.
MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia
Authors: Nguyen Karine , Sigaudy Sabine , Philip Nicole 
Published: August 2003

AbstractRecent reports have emphasized the role of cholesterol in vertebrate embryonic development. The RSH or so‐called Smith–Lemli–Opitz syndrome (SLOS) was the first multiple congenital anomalies/mental retardation syndrome related to a cholesterol synthesis disturbance. Familial hypobetalipoproteinemia is a well‐known dominantly inherited entity in which affected individuals usually are free of symptoms. We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. We discuss the possible causal relationship between the two conditions and the current understanding of the role of cholesterol in normal embryogenesis. © 2003 Wiley‐Liss, Inc.
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature
Authors: Tönnies Holger , Neumann Luitgard M. , Grüneberg Berthild , Neitzel Heidemarie 
Published: August 2003

AbstractWe report on a 4‐year‐old boy with developmental delay and microcephaly with an additional small marker chromosome derived from chromosome 1 and detected in 14% of T‐lymphocytes by conventional cytogenetics and in 9% of buccal smear cells by interphase FISH. Using molecular cytogenetic techniques, the marker chromosome was characterized as an extra ring chromosome consisting of euchromatic material from the proximal short arm of chromosome 1. We compare the cytogenetic data and the phenotype of our patient to those previously described cases with marker chromosome 1 mosaicism. We conclude that in addition to the straightforward molecular cytogenetic characterization of the euchromatic content of the ring chromosome, the investigation of a second cell system gives additional information about the tissue specific distribution of the supernumerary marker chromosome (SMC) and provides more reliable data for further karyotype/phenotype correlations and the prediction of the phenotypic outcome in prenatal cases. © 2003 Wiley‐Liss, Inc.
Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta
Authors: Sharony Reuven , Amiel Aliza , Bouaron Nitsan , Kidron Debora , Itzhaky Dganit , Fejgin Moshe 
Published: August 2003

AbstractIn this study we describe two patients with congenital absence of alpha‐fetoprotein (AFP). The pathological examination results, including an immunohistochemical stain, which define qualitatively the levels of AFP detected by the biochemical studies and the comparative genomic hybridization (CGH) are enclosed. A description of the suggested functions of AFP and the means of its production are set forth. An explanation is suggested for the lack of symptoms in a newborn with undetectable levels of AFP and the mechanism by which this condition might occur. © 2003 Wiley‐Liss, Inc.
Leaf‐pile pulling: An unusual play pattern in wild chimpanzees
Authors: Nishida Toshisada , Wallauer William 
Published: August 2003

AbstractPlay in nonhuman animals has generally been viewed as being uniform among study sites. No studies have examined whether there are local variations in play. In this work we report an apparently locality‐specific form of play that is basically solo locomotor play, but also has aspects of object play and social play. We describe this unusual “leaf‐pile pulling” (LPL) pattern based on video footage of the chimpanzees of Mahale, Tanzania. Typically, when a party of chimpanzees moves in a procession down a slope in the dry season, a youngster will turn around and walk backward while raking many dry leaves with both hands. This activity accumulates many dry leaves while producing a lot of sound. After the player walks 1–15 m, he/she either turns around and walks forward or moves in a somersaulting fashion. The performer usually faces an individual that is immediately following him/her in the procession. The age of the performers ranges from 2 to 22 years, but 3–10 years are most typical. Compared to younger (<8 years) individuals, older (≥8 years) individuals tend to cover longer distances during play, and to be more likely to play only on sloped surfaces and during travel. One of the authors (W.W.) has only seen the behavior exhibited by five different individuals on 10–15 occasions at Gombe. The behavior is exhibited less often at Gombe than at Mahale. To date, LPL has not been reported elsewhere. The absence of LPL at other sites may or may not be explained by environmental differences, such as differences in the availability of dead leaves and sloped terrain. Although the possibility that LPL is acquired by individual learning cannot be completely ruled out, the hypothesis that it is a tradition of the Mahale study group is more likely. This suggests that play may warrant more careful consideration in studies of nonhuman primate culture. Am. J. Primatol. 60:167–173, 2003. © 2003 Wiley‐Liss, Inc.
Experimental field study of the relative costs and benefits to wild tamarins (saguinus imperatorandS. fuscicollis) of exploiting contestable food patches as single‐ and mixed‐species troops
Authors: Bicca‐Marques Júlio César , Garber Paul A. 
Published: August 2003

AbstractSeveral species of tamarins form stable mixed‐species troops in which groups of each species feed, forage, rest, and travel together during much of the year. Although the precise set of factors that facilitate this ecological relationship remains unclear, predator detection and foraging benefits are presumed to play a critical role in maintaining troop stability. In this work we present data from an experimental field study designed to examine how factors such as social dominance and within‐patch foraging decisions affect the costs and benefits to tamarins of visiting feeding sites as single‐ and mixed‐species troops. Our data indicate that when they exploited contestable food patches (sets of eight feeding platforms, two of which contained a 100‐g banana), each tamarin species experienced foraging costs when they arrived as part of a mixed‐species troop. These costs were found to be less severe for emperor tamarins because they were socially dominant to saddle‐back tamarins and could displace them at feeding sites. We conclude that the foraging benefits to tamarins residing in mixed‐species troops are asymmetrical, and that at feeding sites in which the amount of food in a patch is insufficient to satiate all troop members, even minor differences in the timing of return to food patches and changes in troop cohesion have a measurable effect on the costs and benefits to participating tamarin species. Am. J. Primatol. 60:139–153, 2003. © 2003 Wiley‐Liss, Inc.
Possible audience effect in thomas langurs (primates; presbytis thomasi): An experimental study on male loud calls in response to a tiger model
Authors: Wich S.A. , Sterck E.H.M. 
Published: August 2003

AbstractRecent research indicates that animal vocalizations can refer to objects in the outside world, and that call production may be controlled by the sender depending on the type of audience involved. Our research on wild male Thomas langurs (Primates: Presbytis thomasi) shows that these males call as a response to a tiger model when they are in a group, but do not call when they are solitary. This is the first experimental study on wild primates to demonstrate that the presence or absence of an audience influences calling behavior. Our results indicate that males in mixed‐sex groups give more loud calls than solitary males when exposed to a predator model. This suggests that giving loud calls in response to predators is not purely a reflex and may be controlled in some way by the sender. Am. J. Primatol. 60:155–159, 2003. © 2003 Wiley‐Liss, Inc.