bluuebunny/crossref_metadata_2025_split huggingface dataset:
Oral‐facial‐digital syndrome with fibular aplasia: a new variant
Authors: Figuera L. E. , Rivas F. , Cantú J. M. 
Published: July 2010

Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant.Clin Genet 1993: 44: 190–192. © Munksgaard, 1993The oral‐facial‐digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10‐month‐old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral‐facial‐digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.
Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier
Authors: Cotton C. , Cummins M. , Smith A. 
Published: July 2010

Cotton C, Cummins M, Smith A. Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13: 18) (q12;q11) carrier.Clin Genet 1993: 44: 193–195. © Munksgaard, 1993We present a case in which alternate, adjacent 2 and 3:1 meiotic segregations have occurred in the pregnancies of a female carrier of a balanced reciprocal translocation ‐ 46,XX,t(13;18) (q12;q11). Products of five conceptions effectively showed trisomy 18q, trisomy 18p or monosomy 18p. This is one of the rare rearrangements which can give rise to a variety of segregation modes including adjacent 2.
Retinitis pigmentosa in Southern Africa
Authors: Greenberg J. , Bartmann L. , Ramesar R. , Beighton P. 
Published: July 2010

Greenberg J, Bartmann L, Ramesar R, Beighton P. Retinitis pigmentosa in Southern Africa.Clin Genet 1993: 44: 232–235. © Munksgaard, 1993Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders which are a common cause of genetic blindness. The relative frequencies of the different forms of RP in South Africa, as determined from the register at the DNA banking centre for RP at the Department of Human Genetics, University of Cape Town, are presented and discussed. Of the 125 families analysed, 29 (23%) showed autosomal dominant, 33 (27%) autosomal recessive and 3 (3%) X‐linked inheritance. In 10 families the pedigree data were insufficient to allow accurate genetic subtyping and a further 50 patients were sporadic without a family history of RP or other syndromic features which would allow categorization.
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases
Authors: McMullin G. P. , Super Maurice , Clarke Michael A. 
Published: July 2010

McMullin GP, Super M, Clarke MA. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases.Clin Genet 1993: 44: 249–253. © Munksgaard, 1993Two cases are described which presented with diffuse swelling of one cheek and hypertrophy of the underlying maxilla and mandible. Both children developed verrucous pigmented streaks over the area of swelling, and had epilepsy and severe mental subnormality. One of the children had a contralateral hemiplegia and his condition had a progressive course. The other child had no focal neurological signs and his disease seemed to be non‐progressive. Although the facial appearance of both children suggested the diagnosis of encephalocraniocutaneous lipomatosis syndrome, it was not possible to demonstrate the presence of any lipomata in either case. The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.
Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations
Authors: Hanssen A. M. N. , Werquin H. , Suys E. , Fryns J. P. 
Published: July 2010

Hanssen AMN, Werquin H, Suys E, Fryns JP. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.Clin Genet 1993: 44: 281–286. © Munksgaard, 1993We report Cowden syndrome in a large four‐generation family, paying special attention to the apparently greater severity and earlier onset of signs and symptoms in subsequent generations. Macrocephaly was present in all affected individuals and was markedly progressive in three of six affected children of the fourth generation, and associated with slight to moderate delay in psychomotor development.
De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)
Authors: Robin Nathaniel H. , Magnusson Mark , McDonald‐McGinn Donna , Zackai Elaine H. , Spinner Nancy B. 
Published: July 2010

Robin NH, Magnusson M, McDonald‐McGinn D, Zackai EH, Spinner NB. De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3) (q25.1q26.1). Clin Genet 1993: 44: 335–337. © Munksgaard, 1993A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed.
Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome
Authors: Lespinasse J. , Gicquel C. , Robert M. , Bouc Y. Le 
Published: July 2010

Turner syndrome (TS) is a common disorder (1/2500 and 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood (usually due to growth retardation) or later, (due to lack of pubertal development) for the remaining patients. Here we present a cytogenetic and molecular analysis of three monozygotic sisters. The diagnosis of TS was done for one of them (patient 1) who presented with a typical Turner phenotype. A first karyotype was established as normal and a second karyotype (carried out on 200 cells) revealed a 45,X/46,XX mosaicism with 6% of cells with a 45,X karyotype. Lymphocyte karyotype analysis showed the same mosaicism pattern for the two other sisters, one of them exhibiting only a mild (patient 2) and the other no clinical features of Turner syndrome (patient 3). Karyotype analysis was this time conducted on fibroblasts and showed that the 45,X/46,XX mosaicism pattern correlated with the clinical phenotype with 99, 43 and 3% of 45,X cells in patients 1, 2, and 3, respectively.These data suggest that different tissues other than lymphocytes should be subjected to a karyotype analysis when the observed genotype does not correlate with the clinical phenotype.
Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
Authors: Fryns J. P. , Willekens D. , van Schoubroeck D. , Moerman Ph. 
Published: July 2010

In this report we present evidence that Marden‐Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity.We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non‐consanguineous parents. The first child, a female, presented a typical Marden–Walker syndrome with Dandy–Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Feto‐pathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.
Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv
Authors: Wang Q. , Ghadessy FJ , Yong EL 
Published: July 2010

Wang Q, Ghadessy FJ, Yong EL. Analysis of the transactivation domain of the androgen receptor in patients with male infertility. Clin Genet 1998: 54: 185–192. 0 Munksgaard, 1998Genetic defects of the human androgen receptor (AR) can cause a wide spectrum of androgen insensitivity syndromes (AIS) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males. We screened the non‐polymorphic regions of exon 1, transactivation domain (TAD), of the AR gene in 153 subjects with varying degrees of defective spermatogenesis of unknown aetiology, and compared them to 100 healthy fertile controls. Three different single‐strand conformation polymorphisms were detected and sequencing of the mutant fragments revealed three G+A transitions in codons 210, 211 and 214. The first two mutations were polymorphisms and the transition in codon 211 was related to ethnic origin occurring in 10–15% of Indian or Middle‐Eastern subjects, but not in the majority of Chinese. The third mutation resulted in a non‐conservative glycine to arginine substitution at codon 214 (G214R) and was associated with ˜ 20% lower transactivation capacity compared to the wild‐type (WT). This study, the first screening of the AR TAD for subtle mutations, in a large group of males with defective spermatogenesis, has uncovered novel polymorphisms which may be useful in ethnic studies. Although a possible pathogenic mutation was uncovered, mutations of the non‐polymorphic portions of the TAD of the AR do not appear to have a major role in the aetiology of idiopathic male infertility.
Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome
Authors: Kubota Takeo , Sakurai Akihiro , Arakawa Kazuo , Shirnazu Mitsunobu , Wakui Keiko , Furihata Kenichi , Fukushirna Yoshimitsu 
Published: July 2010

Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet 1998: 54: 199–202. 0 Munksgaard, 1998The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X‐linked disorder with features of congenital cataracts. Fanconi syndrome of the renal tubule, and mental retardation. The OCRLI gene has been positionally cloned and shown to encode a phosphatidylinositol 4.5–biphos‐phate‐5–phosphatase. OCRL is thus thought to be an inborn error of inositol polyphosphate metabolism. We analyzed the gene in two Japanese OCRL patients and their families by DNA sequencing and mismatch polymerase chain reaction (PCR) followed by restriction digestion. A novel nonsense mutation (C1399T) replacing the glutamine of codon 391 (Gln 391 Stop) was identified in exon 12 in 1 patient and also in his mother. A novel missense mutation (C1743G) was identified in exon 15 in the second patient, his mother and maternal grandmother. The missense mutation predicts a substitution of serine for arginine (Ser 505 Arg) in a domain highly conserved among the inosi‐tol‐5–phosphatase family. Our observations expand the range of OCRLI mutations that cause Lowe syndrome. and will be useful for genetic counseling in these two Fdmilies.
Genetics of Noonan syndrome – a new gene, and the search is still on
Authors: Stein RA 
Published: July 2010

Germline gain‐of‐function mutations in SOS1 cause Noonan syndrome Roberts et al. (2007) Nature Genetics 39: 70–74Gain‐of‐function SOS1 mutations cause a distinctive form of Noonan syndrome Tartaglia et al. (2007) Nature Genetics 39: 75–79
Random regression models on Legendre polynomials to estimate genetic parameters for weights from birth to adult age in Canchim cattle*
Authors: Baldi F. , Albuquerque L.G. , Alencar M.M. 
Published: July 2010

SummaryThe objective of this work was to estimate covariance functions for direct and maternal genetic effects, animal and maternal permanent environmental effects, and subsequently, to derive relevant genetic parameters for growth traits in Canchim cattle. Data comprised 49 011 weight records on 2435 females from birth to adult age. The model of analysis included fixed effects of contemporary groups (year and month of birth and at weighing) and age of dam as quadratic covariable. Mean trends were taken into account by a cubic regression on orthogonal polynomials of animal age. Residual variances were allowed to vary and were modelled by a step function with 1, 4 or 11 classes based on animal’s age. The model fitting four classes of residual variances was the best. A total of 12 random regression models from second to seventh order were used to model direct and maternal genetic effects, animal and maternal permanent environmental effects. The model with direct and maternal genetic effects, animal and maternal permanent environmental effects fitted by quadric, cubic, quintic and linear Legendre polynomials, respectively, was the most adequate to describe the covariance structure of the data. Estimates of direct and maternal heritability obtained by multi‐trait (seven traits) and random regression models were very similar. Selection for higher weight at any age, especially after weaning, will produce an increase in mature cow weight. The possibility to modify the growth curve in Canchim cattle to obtain animals with rapid growth at early ages and moderate to low mature cow weight is limited.
Antifungal action of the oxathiolone‐fused chalcone derivative
Authors: Łącka Izabela , Konieczny Marek T. , Bułakowska Anita , Rzymowski Tomasz , Milewski Sławomir 
Published: July 2010

SummaryAMG‐148, an oxathiolone‐fused chalcone derivative, exhibited in vitro antifungal activity against several strains of human pathogenic yeast, with minimum inhibitory concentration values within the range of 1–16 μg ml−1 and a fungicidal effect was observed at higher concentrations. Presence of major drug‐effluxing membrane proteins Cdr1p, Cdr2p or Mdr1p, did not affect substantially the fungistatic activity of this compound against clinical Candida albicans strains. Studies on the mode of action revealed that AMG‐148 inhibited chitin and β(1→3)glucan biosynthesis and was in vitro an inhibitor of β(1→3)glucan synthase. Inhibition of chitin biosynthesis was responsible for fungistatic activity, while the fungicidal effect was a consequence of disturbance of β(1→3)glucan synthase function. The chalcone derivative may be a useful lead compound for the development of novel antifungal agents.
The Expression of FSH Receptor (FSHR) in the Neonatal Porcine Ovary and its Regulation by Flutamide
Authors: Durlej M , Knapczyk‐Stwora K , Duda M , Galas J , Slomczynska M 
Published: July 2010

ContentsThis study was designed to reveal the FSHR mRNA and protein expression in the neonatal porcine ovary and to determine whether maternal administration of antiandrogen flutamide may affect FSHR expression in the ovary of newborn piglets using real‐time PCR, immunohistochemistry and Western blot analysis. Pregnant sows were injected with flutamide at a dose of 50 mg/kg body weight, given five times, every second day, starting at day 20 post‐coitum (p.c.) or day 80 p.c., and ovaries were obtained from neonatal pigs. The FSHR mRNA expression was significantly decreased after flutamide administration. Furthermore, higher down‐regulation was observed following exposure to antiandrogen at day 20 than at day 80 p.c. Immunohistochemistry showed the positive immunostaining for FSHR in the oocytes, granulosa cells of primary follicles and the surface epithelium of the ovaries from both control and flutamide‐treated pigs. However, oocytes and granulosa cells of primary follicles in the ovaries exposed in utero to flutamide were weakly immunostained when compared to those in the control ones. The presence of FSHR protein in all investigated ovaries was confirmed by Western blot analysis. Based on our findings, we suggest that FSHR may be involved in the early follicle formation in pigs, which begins during prenatal life. Furthermore, the regulation of FSHR mRNA and protein expression in neonatal porcine ovaries after maternal exposure to flutamide confirms that androgens play a crucial role in porcine folliculogenesis at the early stages.
Difficult physician–patient encounters
Authors: Breen K. J. , Greenberg P. B. 
Published: July 2010

AbstractConsultant physicians encounter patients, and families and carers of patients, who leave us feeling helpless, frustrated, irritated and even angry. There are limited opportunities for trainees and physicians to discuss how to recognize, manage, learn from and prevent these difficult physician–patient encounters. This paper addresses factors, including physician factors, that may contribute to making encounters difficult, categorizes the types of difficult encounters and provides generic and specific suggestions (based in part on published literature and in part on our personal experience) about prevention and management of many of them.
Dopamine and cognitive control: the prospect of monetary gains influences the balance between flexibility and stability in a set‐shifting paradigm
Authors: Müller Johannes , Dreisbach Gesine , Goschke Thomas , Hensch Tilman , Lesch Klaus‐Peter , Brocke Burkhard 
Published: July 2010

AbstractPositive affect and the activity of the neurotransmitter dopamine seem to shift the balance between cognitive flexibility vs stability towards increased flexibility. Here we examined the impact of prospective monetary gains on this balance. Seventy healthy volunteers performed a set‐shifting task comprising a condition in which a bias towards new stimuli helped to overcome perseveration and increased flexibility, and a second condition in which directing attention towards new stimuli increased distractibility. From previous studies of executive functions, two contrasting predictions can be derived: the prospect of monetary gains might either increase cognitive flexibility due to a dopamine release in the prefrontal cortex or increase stability due to an assessment of high utility of action processed in the anterior cingulated cortex and orbitofrontal cortex. Overall, we observed increased cognitive stability in the face of prospective gains (η2 = 7%). However, this effect was modulated by the subjective evaluation of the reward cues: participants who reported increasing their effort in response to reward cues showed increased cognitive stability, whereas those who reported a positive and relaxed attitude towards the reward cues showed increased flexibility (η2 = 11%). The results thus suggest that the flexibility–stability balance is modulated by the perceived effort needed to receive the potential reward. On a neuropsychological level, an interaction of dopaminergic and noradrenergic processes might be involved in the allocation of control.
Contrasting effects of basic fibroblast growth factor and epidermal growth factor on mouse neonatal olfactory mucosa cells
Authors: Barraud Perrine , He Xiaoling , Zhao Chao , Ibanez Chrystelle , Raha‐Chowdhury Ruma , Caldwell Maeve A. , Franklin Robin J. M. 
Published: July 2010

AbstractBasic fibroblast growth factor (bFGF) and epidermal growth factor (EGF) affect proliferation and survival of many cell types, but their role in the maintenance of olfactory mucosa cells remains unclear. In the neonatal mouse olfactory mucosa, cell proliferation mainly occurs in the neuroepithelium and, to a lesser extent, in the lamina propria. To establish whether bFGF and EGF affect proliferation and/or survival of these cells, we isolated olfactory mucosa cells from the neonatal mouse and cultured them as free‐floating spheres under bFGF or EGF stimulation. Our data demonstrate that bFGF is a mitogen for the rapidly dividing cells (olfactory neuronal precursors and olfactory ensheathing cells), and also a survival factor for both slowly and rapidly dividing cells of the olfactory mucosa. In contrast, EGF appears to be primarily a survival factor for both the olfactory stem and precursor cells.
Basolateral amygdala inactivation by muscimol, but not ERK/MAPK inhibition, impairs the use of reward expectancies during working memory
Authors: Savage Lisa M. , Koch Andrew D. , Ramirez Donna R. 
Published: July 2010

AbstractRats were trained on a delayed matching to position (DMTP) task that embedded either a differential outcomes procedure (DOP) or a non‐differential outcomes procedure (NOP). The DOP, via Pavlovian conditioning (stimulus–outcome associations), results in the use of unique reward expectancies that facilitate learning and memory performance above subjects trained with a NOP that requires subjects to retain cue information for accurate choice behavior (stimulus–response associations). This enhancement in learning and/or memory produced by the DOP is called the differential outcomes effect (DOE). After being trained on the DMTP task, rats were implanted with two cannulae aimed at the basolateral amygdala (BLA) nuclei. Rats trained with the DOP, relative to those trained with the NOP, displayed enhanced short‐term memory (STM) performance under vehicle conditions (i.e. the DOE). However, injections of the γ‐aminobutyric acid (GABA)A agonist muscimol into the BLA dose‐dependently (0.0625 and 0.125 µg) impaired STM performance only in DOP‐trained rats. These results support the role of the BLA in the use of established reward expectancies during a short‐term working memory task. Despite the fact that extracellular signal‐regulated kinase/mitogen‐activated protein kinases (ERK/MAPK) have been shown to be necessary for amygdala‐dependent long‐term potentiation and some forms of long‐term and STM, inhibition of the ERK/MAPK signaling cascade by U0126 (2.0 or 4.0 µg) in the BLA was not critical for updating the STM of either spatial information or reward expectation.
Cholinergic modulation of visuospatial responding in central thalamus
Authors: Newman Lori A. , Mair Robert G. 
Published: July 2010

AbstractCentral thalamus has extensive connections with basal ganglia and frontal cortex that are thought to play a critical role in sensory‐guided goal‐directed behavior. Central thalamic activity is influenced by cholinergic projections from mesopontine nuclei. To elucidate this function we trained rats to respond to lights in a reaction time (RT) task and compared effects of muscarinic (2.4, 7.3, 22 nmol scopolamine) and nicotinic (5.4, 16, 49, 98 nmol mecamylamine) antagonists with the GABAA agonist muscimol (0.1, 0.3, 1.0 nmol) in central thalamus. We compared this with subcutaneous (systemic) effects of mecamylamine (3.2, 9.7, 29 µmol/kg) and scopolamine (0.03, 0.09, 0.26 µmol/kg). Subcutaneous scopolamine increased omissions (failure to respond within a 3‐s response window) at the highest dose tested. Subcutaneous mecamylamine increased omissions at the highest dose tested while impairing RT and per cent correct at lower doses. Intrathalamic injections of muscimol and mecamylamine decreased per cent correct at doses that did not affect omissions or RT. Intrathalamic scopolamine increased omissions and RT at doses that had little effect on per cent correct. Anatomical controls indicated that the effects of mecamylamine were localized in central thalamus and those of scopolamine were not. Drug effects did not interact with attention‐demanding manipulations of stimulus duration, proximity of stimulus and response locations, or stimulus array size. These results are consistent with the hypothesis that central thalamus mediates decisional processes linking sensory stimuli with actions, downstream from systems that detect sensory signals. They also provide evidence that this function is specifically influenced by nicotinic cholinergic receptors.