bluuebunny/crossref_metadata_2025_split huggingface dataset:
X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations
Authors: McCauley Joanna , Masand Navta , McGowan Ruth , Rajagopalan Sulekha , Hunter Alasdair , Michaud Jacques L. , Gibson Kate , Robertson Jeremy , Vaz Fiona , Abbs Stephen , Holden Simon T. 
Published: September 2011

AbstractX‐linked VACTERL‐hydrocephalus syndrome (X‐linked VACTERL‐H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross‐linking agents. Only five FANCB mutations found in six affected males, including an affected uncle and nephew, have been reported. We have identified FANCB mutations in a further four affected families. The VACTERL‐H phenotype segregates as an X‐linked recessive trait in three of these. Each mutation is predicted to truncate the FANCB open reading frame and results in highly skewed X‐inactivation in unaffected carrier females. Phenotypic data were available on six affected males. Comparison of the clinical findings in our patients with published clinical data (total 12 patients) shows that ventriculomegaly, bilateral absent thumbs and radii, vertebral defects, renal agenesis, and growth retardation are the major phenotypic signs in affected males. Less frequent are brain, pituitary, ear and eye malformations, gastrointestinal atresias (esophageal, duodenal and anal), tracheoesophageal fistula, lung segmentation defects, and small genitalia. Three of six of our patients survived the perinatal period. One boy lived up to 2 years 10 months but developed aplastic anemia and died of renal failure. These data show that loss‐of‐function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. © 2011 Wiley‐Liss, Inc.
Pregnancy outcome in carriers of Robertsonian translocations
Authors: Keymolen Kathelijn , Van Berkel Kim , Vorsselmans Anniek , Staessen Catherine , Liebaers Inge 
Published: September 2011

AbstractRobertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging.We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies.We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When considering all pregnancies involving carriers, 52.7% of those to female carriers and 61.8% of those to male carriers led to the birth of a healthy child. Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk.We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult. The reason for ascertainment of the translocation should be taken into account when counseling these couples. The possibility of preimplantation genetic diagnosis should also be discussed with the couples. © 2011 Wiley‐Liss, Inc.
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases
Authors: Hatzaki Angeliki , Sifakis Stavros , Apostolopoulou Despina , Bouzarelou Dimitra , Konstantinidou Anastasia , Kappou Dimitra , Sideris Apostolos , Tzortzis Emmanouil , Athanassiadis Apostolos , Florentin Lina , Theodoropoulos Perikles , Makatsoris Constantinos , Karadimas Charalambos , Velissariou Voula 
Published: September 2011

AbstractFibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non‐lethal cases and aid an earlier prenatal diagnosis. Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia. U/S scan performed even at the 18th week of gestation can indicate a decreased rate of development of the femora (femur length (FL) <5th centile), while the mean gestational age at diagnosis is still around the 26th week. The utility of other biometric parameters and ratios is discussed (foot length, BPD, HC, FL/foot, and FL/AC). Prenatal cytogenetic and molecular genetic analyses were performed. A final diagnosis was reached by molecular analysis. In two cases of discontinued pregnancy, fetal autopsy led to a phenotypic diagnosis and confirmed the prenatal prediction of lethality. We conclude that the combination of U/S and molecular genetic approach is helpful for establishing an accurate diagnosis of FGFR3‐related skeletal dysplasias in utero and subsequently for appropriate genetic counselling and perinatal management. © 2011 Wiley‐Liss, Inc.
Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene
Authors: Gripp Karen W. , Hopkins Elizabeth , Johnston Jennifer J. , Krause Caitlin , Dobyns William B. , Biesecker Leslie G. 
Published: September 2011

AbstractTARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X‐linked condition with pre‐ or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X‐chromosome exons in two families, the disease‐causing gene was identified as RBM10. We identified a maternally inherited frameshift mutation in an unrelated patient, confirming RBM10 as the disease gene. This is the first reported individual with TARP syndrome who survived past early infancy, thus expanding the phenotypic spectrum of this disorder. In addition to the characteristic cleft palate, ASD, and persistent superior vena cava, he had low‐set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and cerebellar hypoplasia with megacisterna magna. Preterm delivery, suspected pulmonary hypoplasia, and pulmonary hypertension resulted in chronic lung disease. At the age of $3{\raise0.5ex\hbox{$\scriptstyle 7$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$ years, he remained ventilator‐dependent at night, and he was fed exclusively through a gastro‐jejunal tube. Sensorineural hearing loss required a hearing aid. Optic atrophy and cortical visual impairment were noted. He was unable to sit independently, was non‐communicative and he had severe intellectual disability. Atrial flutter required recurrent ablation of intra‐atrial re‐entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. © 2011 Wiley‐Liss, Inc.
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Authors: Wakabayashi Yasushi , Yamazaki Kyohei , Narumi Yoko , Fuseya Satoshi , Horigome Miki , Wakui Keiko , Fukushima Yoshimitsu , Matsubara Yoichi , Aoki Yoko , Kosho Tomoki 
Published: September 2011

AbstractLEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal‐dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities. Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM). We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM. © 2011 Wiley‐Liss, Inc.
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex
Authors: Niemi Anna‐Kaisa , Northrup Hope , Hudgins Louanne , Bernstein Jonathan A. 
Published: September 2011

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previously reported in two patients with TSC. We report on two unrelated females with typical manifestations of TSC, horseshoe kidney, and an identical variant c.5138G>A in exon 39 (p.Arg1713His) of TSC2 gene. These cases provide evidence that horseshoe kidney is associated with TSC and add to the evidence for the pathogenicity of this variant. Furthermore, one of the patients also had a diaphragmatic hernia which has been reported twice in the medical literature in individuals with TSC. It is possible that a diaphragmatic hernia is another rare manifestation of TSC and that TSC should be included in the differential diagnosis of infants with a diaphragmatic hernia. Given that both a horseshoe kidney and a diaphragmatic hernia are findings that can be detected prenatally on an ultrasound examination, our findings may have implications for prenatal genetic counseling. © 2011 Wiley‐Liss, Inc.
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
Authors: Alesi Viola , Barrano Giuseppe , Morara Sara , Darelli Daria , Petrilli Katia , Capalbo Anna , Pacella Mario , Haass Cristina , Finocchi Maurizio , Novelli Antonio , Bertoli Marta 
Published: September 2011

AbstractInterstitial deletion of the short arm of chromosome 4, excluding cytoband p16, has been described as a distinct phenotype from the Wolf–Hirschhorn syndrome, characterized by a deletion encompassing cytoband p16. We report on the case of a 14‐month‐old boy with an apparently isolated craniosynostosis and harboring a de novo microdeletion in band 4p15. The imbalance, about 4 Mb in size is, to date, the smallest deletion ever described in this region, encompassing 12 genes. A comparison with other previously described cases of 4p15 deletion is made, and the possible roles of some genes involved in the deletion are discussed. © 2011 Wiley‐Liss, Inc.
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Authors: Nampoothiri Sheela , Kuthiroly Shwetha , Fauth Christine , Krabichler Birgit , Attie‐Bitach Tania , Hennekam Raoul C. 
Published: September 2011

AbstractWe report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on radiographs. The phenotype in the sibs resembles acrocallosal syndrome but differs in absence of macrocephaly, underdeveloped callosal body, and post‐axial polydactyly. The patients also resemble Greig cephalopolysyndactyly syndrome but the absence of macrocephaly, broad thumbs, polydactyly, affected sibs and parents make this diagnosis unlikely. Classical cytogenetic and array CGH failed to show an abnormality. The sibs may have a hitherto undescribed entity, possibly with an autosomal recessive pattern of inheritance. © 2011 Wiley‐Liss, Inc.
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
Authors: Fairchild Helen R. , Fairchild Graeme , Tierney Kevin M. , McCartney Deborah L. , Cross Justin J. , de Vries Petrus J. 
Published: September 2011

AbstractIn 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years 6 months, the patient displayed significant intellectual disability with proportionate impairments in attentional‐executive, memory, and visuo‐spatial abilities despite appearing socially “able.” This discrepancy may be explained by good social‐emotional skills masking his intellectual disability, by decline in cognitive abilities over time, or by unusual neuroradiological abnormalities not previously examined in Roifman syndrome. Here, we present results from a structural MRI scan, neurocognitive evaluations repeated 2 and 5 years post‐baseline and assessments of face and emotional processing. The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala. No evidence was found for decline in the patient's neurocognitive profile. Emotional processing data indicated an age‐appropriate pattern of reactivity to emotional stimuli and preserved facial identity recognition abilities, but impairments in recognition of negative facial expressions. The results confirmed a stable pattern of intellectual disability, and indicated that Roifman syndrome may be associated with major structural neuro‐anatomical abnormalities. We suggest that the relative strengths in emotion and face processing are consistent with the patient's apparently able social behavior, and with intact amygdalar function. © 2011 Wiley‐Liss, Inc.
Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity
Authors: Alfieri Paolo , Cesarini Laura , De Rose Paola , Ricci Daniela , Selicorni Angelo , Menghini Deny , Guzzetta Andrea , Baranello Giovanni , Tinelli Francesca , Mallardi Maria , Zampino Giuseppe , Vicari Stefano , Atkinson Janette , Mercuri Eugenio 
Published: September 2011

AbstractGlobal spatial and motion processing abilities were assessed in 18 patients with Noonan syndrome (NS) and in 43 matched controls using form and motion coherence testing, respectively. We observed a discrepancy between the two groups since the study group had significantly lower performances than the control group for form coherence while there was no impairment on motion coherence. All the patients were also assessed on the Movement Assessment Battery for Children (M‐ABC) to evaluate visuomotor skills. Thirteen of the 18 (72%) also had global poor performances on the M‐ABC. The results show that children with NS have a specific impairment in the global processing of visuospatial information and are likely to have a specific ventral stream deficit as also suggested by the frequent visuomotor perceptual difficulties. Testing form and motion coherence thresholds may be a useful diagnostic tool for this group of patients, despite their normal cognitive abilities, since aspects of global form processing and visuomotor perceptual difficulties can be identified and potentially targeted for a specific rehabilitation program. © 2011 Wiley‐Liss, Inc.
New case of Primrose syndrome with mild intellectual disability
Authors: Posmyk Renata , Leśniewicz Ryszard , Chorąży Monika , Wołczyński Sławomir 
Published: September 2011

AbstractWe report on a 27‐year‐old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage. All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability. Additionally we found hypergonadotropic hypogonadism and a low bone density due to progressive osteoporosis. We discuss our observations in relation to previously published cases, and we stress the need for the detail and phenotypic descriptions of further cases as PS remains rare, and the genetic basis is still undiscovered. © 2011 Wiley Periodicals, Inc.
Obstructive uropathy caused by an inguinal hernia in a kidney transplant recipient: Report of hernia cure by the shouldice technique
Authors: Tran Duy , Gaboriault Josée , Collette Suzon , Senécal Lynne , Morin Michel , Boucher Anne , Dandavino Raymond 
Published: September 2011

AbstractWe report the case of kidney graft dysfunction secondary to ureteral obstruction caused by an inguinal hernia. A 52‐year‐old renal transplant recipient was admitted to our transplantation unit for abdominal pain and acute rise in serum creatinine level. Radiological work‐up showed that the distal transplant ureter was trapped in a left inguinal hernia. After placement of a temporary percutaneous nephrostomy tube and hernia repair by the Shouldice technique, the graft function improved and has remained stable at 1 year of follow‐up. Although infrequent, inguinal hernia can be a cause of obstructive uropathy and graft failure in a transplanted kidney, and the Shouldice technique is appropriate for cure of hernia in this setting. Dial. Transplant. © 2011 Wiley Periodicals, Inc.
Profiling and quantification ofDrosophila melanogasterlipids using liquid chromatography/mass spectrometry
Authors: Hammad Loubna A. , Cooper Brandon S. , Fisher Nicholas P. , Montooth Kristi L. , Karty Jonathan A. 
Published: September 2011

We present here the findings of global profiling of Drosophila lipids using liquid chromatography/tandem mass spectrometry (LC/MS/MS) on an LTQ‐Orbitrap instrument. In addition, we present a multiple reaction monitoring (LC‐MRM) method for the absolute quantification of the major phosphatidylethanolamine (PE) and phosphatidylcholine (PC) lipids of Drosophila.Using both normal‐ and reversed‐phase LC followed by accurate mass analysis and MS/MS on an LTQ‐Orbitrap instrument, we evaluated the lipid composition of the fruit flyDrosophila melanogaster. A total of 74 lipid species were identified consisting of glycerphospholipids belonging to the PE, PC, phosphatidylglycerol (PG), phosphatidylinositol (PI) and phosphatidylserine (PS) classes including several plasmanyl PE species, as well as triacylglycerides, cardiolipins, ceramides, and PE ceramides.Individual PE and PC phospholipids were then quantified using an LC‐MRM approach. Reversed‐phase chromatography followed by monitoring on a QTrap 4000 instrument of 21 MRM transitions combined with calibration curves constructed using internal standards enabled the absolute quantification of 28 PE and PC lipid species with limits of quantification of 3 and 5 pg/μL, respectively. Internal standards accounted for the differences in ionization efficiencies of PE and PC phospholipids, facilitating more accurate lipid abundance measurements.The method presented here builds on previous Drosophila work by making the quantification of absolute lipid abundance possible and will be of interest to scientists who study variation and changes in the degree of unsaturation, fatty acid carbon length, and head‐group concentration among individuals of different genotypes in response to environmental, genetic, or physiological perturbation in small insects. It will also be particularly useful to biologists interested in adaptation and acclimation of cellular membranes in response to thermal heterogeneity. Copyright © 2011 John Wiley & Sons, Ltd.
Adolescent romantic couples influence on substance use in young adulthood
Authors: Gudonis‐Miller Lauren C. , Lewis Lisa , Tong Yan , Tu Wanzhu , Aalsma Matthew C. 
Published: September 2011

ABSTRACTResearch has demonstrated that adolescent peer group affiliations are consistent predictors of substance use initiation and maintenance; it is less clear how adolescent romantic relationships influence substance use behavior. Data were drawn from the National Longitudinal Study of Adolescent Health. Participants in the final dataset for the current study included adolescents (321 males and 321 females) who were identified in reciprocated romantic relationships at Wave 1 (1994–1995; mean age 16.7 years) that were followed into young adulthood and reassessed at two different time points (Wave 2 in 1996, mean age 17.7, and Wave 3 in 2001–2002, mean age 23.1). Data were gathered from both partners, and included demographic variables, longitudinal measures of substance use (alcohol, tobacco, and marijuana), and relationship seriousness. Hierarchical linear modeling using SAS PROC MIXED were utilized to test for individual versus partner influences. Results revealed individual and partner effects for the prediction of alcohol and tobacco, although individual effects were generally greater than partner influences. For marijuana use, as self‐reported relationship seriousness increased, future marijuana use decreased. These findings suggest the developmental significance of adolescent romantic relationships on the prediction of future substance use behavior during young adulthood.
Specialty Care Programme for Autism Spectrum Disorders in an Urban Population: A Case-Management Model for Health Care Delivery in an asd Population
Authors: Parellada M. , Boada L. , Moreno C. , Llorente C. , Romo J. , Muela C. , Arango C. 
Published: September 2011

AbstractSubjects with autism spectrum disorders (ASD) have more medical needs and more difficulties accessing health care services than the general population. Their verbal and non-verbal communication difficulties and particular behaviors, along with lack of expertise on the part of physicians and failure of the services to make adjustments, make it difficult for them to obtain an appropriate health care.PurposeTo describe a model for health care delivery in an ASD population.MethodReview of relevant literature and a discussion process with stakeholders leading to the design of a service to meet the specialty health needs of subjects of all ages with ASD for a region with a population of 6,000,000.ResultsA service was designed centred around the concepts of case management, individualization, facilitation, accompaniment, continuous training and updating, and quality management. Five hundred and thirteen patients with ASD have been seen over a period of 18 months. The programme generated 1566 psychiatric visits and 1052 visits to other specialties (mainly Nutrition, Stomatology, Neurology, and Gastroenterology) in the same period.ConclusionPersons with ASD may benefit from adjustments of health care services in order to improve their access to adequate health care at the quality level of the rest of the population.