bluuebunny/crossref_metadata_2025_split huggingface dataset:
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure
Authors: Marles Sandra L. , Reed Martin , Evans Jane A. 
Published: December 2002

AbstractHumeral “bifurcation” due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur–fibula–ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date. © 2002 Wiley‐Liss, Inc.
Mesomelic and rhizomelic short stature: The phenotype of combined Leri‐Weill dyschondrosteosis and achondroplasia or hypochondroplasia
Authors: Ross Judith L. , Bellus Gary , Scott Charles I. , Abboudi Jack , Grigelioniene Giedre , Zinn Andrew R. 
Published: December 2002

AbstractWe studied two children with combined genetic skeletal disorders. Both had Leri‐Weill dyschondrosteosis (LWD); one also had achondroplasia and the other had hypochondroplasia. Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders. Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene. The patient with hypochondroplasia had a heterozygous SHOX deletion; no SHOX mutation was identified in the child with achondroplasia. The phenotypes of combined LWD and achondroplasia or hypochondroplasia appeared to be less than additive, suggesting that SHOX and FGFR3 act on overlapping pathways of bone growth and development. © 2002 Wiley‐Liss, Inc.
Is immunosuppression therapy in renal allograft recipients teratogenic? A single‐center experience
Authors: Bar Jacob , Stahl Bracha , Hod Moshe , Wittenberg Clara , Pardo Joseph , Merlob Paul 
Published: December 2002

AbstractThe aim of the study was to determine whether immunosuppressive agents used in renal allograft recipients are teratogenic or otherwise associated with pregnancy outcome. The study population consisted of 38 renal allograft recipients treated with combinations of prednisone, azathioprine, cyclosporin A, and tacrolimus attending our Hypertension in Pregnancy Clinic. The 48 live offspring of 73 pregnancies in this group were evaluated for major congenital malformations and mild errors of morphogenesis. Findings were compared with those in 48 offspring of 41 women with primary renal disease not treated with immunosuppressive drugs. Pregnancy outcome parameters were also compared between the study and control groups in the perinatal period and on a long‐term basis (2–7 years after birth). Two major anomalies (4.2%), subcoronal hypospadias and rudimentary thumb, and 10 mild errors of morphogenesis (20.8%) were detected in the study group. These rates did not differ significantly from those in the control group (4.2% and 16.6%, respectively). Pregnancy outcome was worse in the renal transplant patients than in the women with primary renal disease in terms of prematurity (60% vs. 21%, P = 0.001), growth restriction (52% vs. 17%, P = 0.001), and hospitalization in a neonatal intensive care unit (35% vs. 6%, P = 0.01). In conclusion, the similar prevalence of major anomalies and mild errors of morphogenesis in offspring of the renal transplant patients and the women with primary renal disease suggests that immunosuppressive therapy is not a teratogenic factor. It may, however, be associated with worse pregnancy outcome. © 2002 Wiley‐Liss, Inc.
46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred
Authors: Le Caignec Cédric , Baron Sabine , McElreavey Ken , Joubert Madeleine , Rival Jean‐Marie , Mechinaud Françoise , David Albert 
Published: December 2002

Abstract46,XY gonadal dysgenesis is characterized by abnormal testicular determination. We describe a large kindred in which various disorders of sexual development were observed, ranging from completely female phenotype without ambiguities of the external genitalia (five cases) to men with isolated penile or perineal hypospadias (four cases), including two cases with moderate virilization and one case with ambiguity of the external genitalia. Histologic examination of gonadal tissue was performed on seven subjects. These findings were suggestive of complete gonadal dysgenesis in one patient, partial gonadal dysgenesis in three patients, and mixed gonadal dysgenesis in three patients. Four patients developed gonadal tumors (two gonadoblastoma, two dysgerminoma, and one immature teratoma, i.e., one patient had a dysgerminoma with some areas of gonadoblastoma). All affected subjects had no other congenital anomalies or dysmorphic features. Analysis of families with several affected individuals with 46,XY gonadal dysgenesis implied an X‐linked mode of inheritance because of the apparent absence of male‐to‐male transmission. However, a sex‐limited autosomal dominant mode of inheritance affecting only XY individuals could not be ruled out. Analysis of the pedigree we report indicated an autosomal dominant mode of inheritance because of male‐to‐male transmission. This kindred supports the involvement of at least one autosomal gene in non‐syndromic 46,XY gonadal dysgenesis. © 2002 Wiley‐Liss, Inc.
First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16
Authors: Starke Heike , Mitulla Beate , Nietzel Angela , Heller Anita , Beensen Volkmar , Grosswendt Gisela , Claussen Uwe , von Eggeling Ferdinand , Liehr Thomas 
Published: December 2002

AbstractWe report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after GTG banding, with the marker present in 80% of cells. The supernumerary marker chromosome (SMC) was as small as approximately one‐third of 18p, and with the recently developed centromere‐specific multi‐color fluorescence in situ hybridization (cenM‐FISH) technique, it was shown that the SMC was a derivative chromosome 4. The SMC was not specifically stained by arm‐specific probes for chromosome 4; thus, it has been described as der(4)(:p11 → q11:). Microsatellite analysis resulted in a partial maternal uniparental isodisomy (UPD) for chromosome 4p15–16 and a maternal origin for two chromosomes 21. Until now only two similar cases have been described in the literature, but without clarifying the origin of the SMC and without looking for an additional UPD. This is the only reported case of a UPD 4p in a liveborn child. © 2002 Wiley‐Liss, Inc.
Velocardiofacial syndrome in an unexplained XX male
Authors: Phelan Mary C. , Rogers R. Curtis , Crawford Eric C. , Brown Laura G. , Page David C. 
Published: December 2002

AbstractWe report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G‐banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was further investigated by PCR testing to screen for the presence of 24 distinct loci spanning the Y chromosome. PCR screening failed to detect any apparent Y chromosome material. © 2002 Wiley‐Liss, Inc.
Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients
Authors: Claes Erna , Evers‐Kiebooms Gerry , Boogaerts Andrea , Decruyenaere Marleen , Denayer Lieve , Legius Eric 
Published: December 2002

AbstractThe psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA‐testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty‐six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA‐analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi‐structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first‐degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as “objective” predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling. © 2002 Wiley‐Liss, Inc.
Further delineation of Wittwer syndrome and refinement of the mapping region
Authors: Wieland Ilse , Muschke Petra , Wieacker Peter 
Published: December 2002

AbstractIn 1996, Wittwer et al. described a XLMR‐syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the disease locus between DXS8095 and DXS7108 comprising 3.9–6.1 Mb. This interval overlaps with known contiguous gene‐deletion syndromes. However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients. © 2002 Wiley‐Liss, Inc.
Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome
Authors: Genevieve D. , Cormier‐Daire V. , Sanlaville D. , Faivre L. , Gosset P. , Allart L. , Picq M. , Munnich A. , Romana S. , de Blois Mc. , Vekemans M. 
Published: December 2002

AbstractPallister–Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual case of i(12p) in a 15‐year‐old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal weight, length, and OFC parameters as well as hyperpigmented streaks. The boy attended normal school until the age of 14 years. Because of hyperpigmented stripes, chromosome analysis was performed on skin fibroblasts. This study showed that 37% of the cells had an additional isochromosome for the short arm of chromosome 12. This observation illustrates the phenotypic variability of i(12p) and emphasizes the importance of skin fibroblasts chromosome analysis in patients with pigmentary skin changes. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies
Authors: Gläser Birgitta , Rossier Eva , Barbi Gotthold , Chiaie Loredana Delle , Blank Christian , Vogel Walther , Kehrer‐Sawatzki Hildegard 
Published: December 2002

AbstractWe describe the case of a 6‐month‐old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G‐banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12, del(12)(p12.1p12.3). Molecular cytogenetic analysis with bacterial artificial chromosomes (BAC) clones was used to refine the extent of the deletion. The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p. © 2002 Wiley‐Liss, Inc.
G protein subunit Gγ13 is coexpressed with Gαo, Gβ3, and Gβ4 in retinal ON bipolar cells
Authors: Huang Liquan , Max Marianna , Margolskee Robert F. , Su Hui , Masland Richard H. , Euler Thomas 
Published: December 2002

AbstractWe investigated the expression of Gγ13, a recently discovered G protein subunit, and a selection of Gβ subunits in retinal bipolar cells, by using a transgenic mouse strain in which green fluorescent protein is strongly expressed in a single type of cone bipolar cell. The cells have ON morphology, and patch‐clamp recordings in slices confirmed that they are of the physiological ON type. Immunohistochemistry showed that Gγ13 is expressed in rod bipolar cells and ON cone bipolar cells, where it is colocalized in the dendrites with Gαo. ON and OFF cone bipolar cells and rod bipolar cells were identified among dissociated cells by their green fluorescence and/or distinct morphology. Hybridization of single‐cell polymerase chain reaction products with cDNA probes for G protein subunits Gβ1 to 5 showed that Gβ3, Gβ4, and Gγ13 are coexpressed in ON bipolar cells but not present in OFF bipolar cells. Gβ1, 2, and 5 are expressed in partially overlapping subpopulations of cone bipolar cells. Gγ13 and Gβ3 and/or Gβ4, thus, seem selectively to participate in signal transduction by ON bipolar cells. J. Comp. Neurol. 455:1–10, 2003. © 2002 Wiley‐Liss, Inc.
Morphological classification of the rat lateral cerebellar nuclear neurons by principal component analysis
Authors: Sultan Fahad , Czubayko Uwe , Thier Peter 
Published: December 2002

AbstractThe deep cerebellar nuclei (DCN) constitute the major structures by which the cerebellum forwards its output to the rest of the brain. Although the connectivity of the DCN has been well studied, little is known about the interface—the neurons' soma and dendrites—between the DCN's inputs and outputs. We therefore decided to analyze the neurons' somatic and dendritic morphology by applying a multivariate approach (principal component analysis; PCA), in order to define morphological groups possibly related to distinct positions in the nuclear microcircuitry. The PCA was based on intracellularly stained neurons from the rat's lateral DCN and on 19 parameters that described the neurons' morphology. The PCA yielded two principal components that accounted for 46% of the variance. The first component, correlated with soma size, separated the majority of neurons (type I) from a population of small neurons (type II). The second component showed negative correlation with larger cells with more numerous primary dendrites and a more multipolar appearance (type Ia) and positive correlation with smaller neurons with asymmetric dendritic fields and tufted dendrites (type Ib). The preponderance of small somata in our type Ib neurons suggests that these neurons probably correspond to the inferior olive projection neurons. In summary, our results are in agreement with previous classifications, which distinguished projection neurons (type I) from local neurons (type II); furthermore, our results point to a hitherto undescribed dendritic morphological difference in the projection neurons. The latter may be important for understanding the phylogenetic changes seen in the mammalian lateral cerebellar nucleus. J. Comp. Neurol. 455:139–155, 2003. © 2002 Wiley‐Liss, Inc.
Projection neurons originating from thermo‐ and hygrosensory glomeruli in the antennal lobe of the cockroach
Authors: Nishino Hiroshi , Yamashita Shingo , Yamazaki Yoshiyuki , Nishikawa Michiko , Yokohari Fumio , Mizunami Makoto 
Published: December 2002

AbstractMost insects are equipped with specialized thermo‐ and hygroreceptors to locate a permissible range of ambient temperature and distant water sources, respectively. In the cockroach, Periplaneta americana, cold, moist, and dry receptor cells in the antennae send axons to particular sets of two or three glomeruli in the dorsocentral part of the antennal lobe (primary olfactory center), designated DC1–3 glomeruli. However, it is not known how thermo‐ and hygrosensory signals from these glomeruli are represented in higher‐order centers, the protocerebrum, in any insect species. With the use of intracellular recording and staining techniques, we identified a new class of interneurons with dendrites almost exclusively in the DC1, DC2, or DC3 glomeruli and axons projecting to the protocerebrum in the cockroach. Remarkably, terminals of all these projection neurons (PNs) covered almost identical areas in the lateral protocerebrum (LP), although their termination areas outside the LP differed from neuron to neuron. The termination areas within the LP were distinct from, but close to, those of uniglomerular and macroglomerular PNs that transmitted signals concerning general odors and female sex pheromones, respectively. PNs originating from DC1, DC2, and DC3 glomeruli exhibited excitatory responses to cold, moist, and dry stimuli, respectively, probably due to excitatory synaptic input from cold, moist, and dry receptor cells, respectively, whereas their responses were often modulated by olfactory stimuli. These findings suggested that dorsocentral PNs participate in neural pathways that lead to behavioral responses to temperature or humidity changes. J. Comp. Neurol. 455:40–55, 2003. © 2002 Wiley‐Liss, Inc.
Anatomic mapping of neuronal odor responses in the developing rat olfactory bulb
Authors: Guthrie Kathleen M. , Gall Christine 
Published: December 2002

AbstractBehavioral evidence indicates that altricial mammals possess olfactory function at early developmental ages, before the olfactory bulb has matured anatomically. We monitored the early anatomic and functional development of the olfactory bulb in rat pups stimulated with odors using in situ localization of c‐fos mRNA to identify responsive postsynaptic neurons. Odor‐specific spatial patterns of neuronal activation in the glomerular layer were evident from birth, were sharply defined rather than diffuse, and remained relatively unchanged in terms of their bulbar distribution during the first 3 postnatal weeks. In neonates, focal postsynaptic responses in the glomerular layer occurred in the form of clusters of activated tufted neurons. Broad zones of activated mitral cells were located beneath these cell clusters, with scattered neurons in the underlying granule cell layer also expressing c‐fos. The cellular composition of these functional neuronal groups shifted from predominantly output neurons at the earliest ages, to increasing incorporation of interneurons as they developed postnatally. The characteristic distribution of activated neurons in the mature glomerular layer, in which the boundaries of individual glomeruli are precisely defined by cells expressing c‐fos, emerged near the end of the first week. Broad zones of cRNA hybridization in the mitral cell layer became increasingly restricted as the size of the activated granule cell population increased postnatally, correlating with the functional maturation of inhibitory circuitry. These results provide evidence that the types and distributions of neurons collectively activated by sensory input to glomeruli change as the rat olfactory bulb matures and that distinct, functional odor maps in the glomerular layer are established from birth. J. Comp. Neurol. 455:56–71, 2003. © 2002 Wiley‐Liss, Inc.
Developmental expression of nicotinic receptors in the chick and human spinal cord
Authors: Keiger C. Jane H. , Prevette David , Conroy William G. , Oppenheim Ronald W. 
Published: December 2002

AbstractNaturally occurring programmed cell death of lumbar motor neurons in the chick spinal cord occurs between embryonic day (E) 6 and E12; whereas, a peak of motor neuron degeneration in the human spinal cord occurs between 12 and 16 weeks gestation. One of the major neurotransmitters, acetylcholine, is released from the embryonic motor neuron early in development and is thought to be responsible for early muscle activity that serves as a signal for regulating motor neuron survival. The effects of acetylcholine are mediated by two functionally distinct classes of receptors; namely, muscarinic and nicotinic with nicotinic receptors being used at the neuromuscular synapse. In this study, we determined the developmental expression profile of nicotinic acetylcholine receptor subunits in the chick and human lumbar motor neurons and skeletal muscle using reverse transcription polymerase chain reaction, immunoblots, and immunocytochemistry. Our results show that, in the chick, nicotinic receptor subunits α1, α4, α7, α8, and β2 appear to be regulated during the process of naturally occurring motor neuron cell death in the spinal cord. A new finding was the expression of α8 mRNA and protein from E4.5 through E7 in chick motor neurons. Interestingly, we also found that, at E14, α8 protein was localized only in sensory dorsal horn neurons. In the developing human spinal cord, we determined that nicotinic receptor subunits α1, α2, α3, α4, α7, β2, and β3 were expressed before the programmed cell death period, and α2, α4, α7, β2, β3, and β4 were expressed during the programmed cell death period. Our data demonstrate that neuronal and muscle nicotinic receptor mRNAs and proteins are expressed during important embryonic periods. This finding raises the possibility that nicotinic receptors play an important role in the spinal cord and skeletal muscle during early development. J. Comp. Neurol. 455:86–99, 2003. © 2002 Wiley‐Liss, Inc.