bluuebunny/crossref_metadata_2025_split huggingface dataset:
DYNAMICS OF VASCULAR ENDOTHELIAL GROWTH FACTOR IN HEMORRHAGIC STROKE DEPENDING ON THE DISEASE SEVERITY
Authors: Bojkiv N. D. , Tsymbala O. P. 
Published: April 2024

Introduction. The results of experimental studies indicate the growth factors, in particular the vascular endothelial growth factor, around the hematoma already at the beginning of hemorrhagic stroke.
The aim of the study: to find out the features of vascular endothelial growth factor expression in patients with hemorrhagic stroke depending on the disease severity.
Research metods. 53 patients with hemorrhagic stroke were examined. The control group - 25 people with hypertension without dyscirculatory disorders of cerebral circulation.
The level of neurological deficit was assessed using the National Institute of Health Stroke Scale (NIHSS).
Vascular endothelial growth factor (VEGF) in the blood was determined on the 1st, 5th and 21st days of the acute stroke period by enzyme-linked immunosorbent assay (ELISA) (test kits of the company "Biosourse" (USA)). The research results were analyzed by the method of variational statistics using the program "STATISTICA 6.0" (StatSoft, USA).
Results and discussion. With a mild degree of severity, the content of VEGF in the blood is significantly lower on the 1st and 5th days of the acute period compared to the control group. This may be one of the factors contributing to the development of a hemorrhagic stroke. An increase in VEGF in the first days of the disease can be a marker of the serious condition of patients with hemorrhagic stroke. VEGF levels on the 5th and 21st days are highest in mild cases, and lowest in severe cases. The increased synthesis of VEGF in case of a mild stroke indicates a more adequate response of the endothelium to damage.
Conclusions. A marker of a mild hemorrhagic stroke can be low VEGF levels in the first days of the disease and their significant increase at the end of the previous period. High VEGF in the blood at the beginning of the disease, and relatively lower indicators (compared to a mild course) at the end of the previous period are associated with the severe condition of patients with hemorrhagic stroke.
La sedación y analgesia para procedimientos en emergencia
Authors: Rosa Rivera Karen Adaly 
Published: April 2024

OBJETIVO: describir la sedación y analgesia para procedimientos en emergencia. MÉTODO: se recopiló información de revista médica clínica Los Condes, revista mexicana de Anestesiología, MBA surgical empowerment, sociedad española de anestesiología, InnovaHONCO, Ocronos, Tintinalli, libros, revistas médicas donde se encontraron artículos, guías y protocolos sobre la sedación y analgesia para procedimientos en emergencia. RESULTADOS: El uso de la sedación y analgesia para procedimientos en el servicio de emergencia corresponde al uso de analgésicos de acción corta y medicamentos sedantes que permiten el desarrollo de procedimientos no programados de manera segura, mientras se monitorea a los pacientes para detectar posibles eventos adversos cardiorrespiratorios. CONCLUSIÓN: La sedación y la analgesia para los procedimientos de emergencia se describen como un estado en el cual se priva a los pacientes de las sensaciones no placenteras provocadas por los distintos procedimientos médicos no programados y que no requieren realizarse en el quirófano, además de proporcionar un estado de ausencia de la percepción del dolor.
Designing marine infrastructure to restore native shellfish
Authors: Damodaran D A 
Published: April 2024

ABSTRACT
Reef forming bivalves like mussels and oysters have undergone massive declines due to many factors including increasing habitat loss. Bivalves provide important ecosystem functions and services that include increasing biodiversity and providing sustenance and cultural services to humans. Therefore, it is vital to preserve the reefs that remain and restore those that have been damaged or lost. Some of this natural habitat has been lost to coastal development making full habitat restoration near impossible. However, targeting habitat building bivalves in restoration efforts and designing marine infrastructure to attract bivalves, is a way to preserve and increase biodiversity in lost or degraded ecosystems. There is an increasing number of tools to enhance the effectiveness of restoration efforts including, designing infrastructure to mitigate external environmental stressors, and better understanding the habitat requirements and stressors of the species being restored. With the rapid loss of the world's ecosystems, increasing research suggests restoration approaches are not one-size-fits-all and efforts are the most effective when tailored to local environmental conditions and species.
Quality prediction based on phase‐specific average trajectory for batch processes
Authors: Zhao Chunhui , Wang Fuli , Mao Zhizhong , Lu Ningyun , Jia Mingxing 
Published: January 2008

AbstractA new process analysis and quality prediction scheme is presented, based on phase‐specific average process trajectory, and is developed for the improvement of quality prediction in multiphase batch processes. After the process trajectory is separated into different phases, based on the different inherent process correlations relevant to quality, quality prediction is performed using average trajectory focusing on critical phases. In this way, it explores the phase‐specific cumulation effects of process variables on product quality with a simpler regression model. Then the critical‐to‐quality phases are identified, and the online quality predicting algorithm is conducted correspondingly during those critical phases. Moreover, to improve the estimation precision of unknown data in each phase, the past batches are made use of, and the missing observations are complemented by searching for the most similar process trajectory to the current one. The applications of the proposed scheme to injection molding show its effectiveness and feasibility. © 2008 American Institute of Chemical Engineers AIChE J, 2008
De novo three‐way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
Authors: Purandare Smita M. , Mendoza‐Londono Roberto , Yatsenko Svetlana A. , Napierala Dobrawa , Scott Daryl A. , Sibai Tarek , Casas Kari , Wilson Patrick , Lee Jiyun , Muneer Razia , Leonard Joe C. , Ramji Faridali G. , Lachman Ralph , Li Shibo , Stankiewicz Pawel , Lee Brendan , Mulvihill John J. 
Published: January 2008

AbstractCleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast‐specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and supernumerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three‐way translocation 46,XY,t(4;6;21)(p16;p21.1;q21). Further mapping revealed the breakpoint on 6p21 to be ∼50 kb upstream of exon 1 of the RUNX2 gene, with RUNX2 being intact on the derivative chromosome 6. We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene. Further studies might unravel a new regulatory element for RUNX2. © 2008 Wiley‐Liss, Inc.
“We Kept Our Promises”: An oral history of Harry Shwachman, M.D.
Authors: Fanos Joanna H. 
Published: January 2008

AbstractHarry Shwachman, M.D., was Chief of the Division of Clinical Nutrition at Children's Hospital, Boston, which eventually became the largest Cystic Fibrosis (CF) center in the world. For over four decades he pioneered understanding of the disease and developed a program of diagnosis and treatment that dramatically extended the lives of children affected with CF. During his own childhood, he developed bilateral pneumonia and nearly died. He received a BS from M.I.T in 1932, and an MD from Johns Hopkins in 1936. He completed his internship and residency at Johns Hopkins and Children's Hospital, Boston (1937–1941). In 1947 he returned from Army service to Boston where he resumed his medical practice and research. Dr. Shwachman discovered a less invasive screening procedure for CF than the intubation technique used previously. In the late 1940s he and his colleagues identified pulmonary involvement to be the primary manifestation of CF. He was instrumental in establishing the autosomal recessive genetic pattern of CF [Allen et al., 1956]. He introduced new treatment methods that changed the management of CF, including the use of antibiotics in 1948, a new pancreatic enzyme replacement, and chest physical therapy. In 1954 Shwachman developed the first reproducible sweat test at Children's Hospital, Boston, and in 1955 he helped establish the Cystic Fibrosis Foundation. He authored over 250 publications, trained generations of researchers, and was a dedicated clinician, legendary for his devotion to his patients and their families. In addition, he was an accomplished violinist and founding member of the Newton Symphony Orchestra. He and Irene, his wife of 42 years, had three children: Elizabeth, Joan, and Alan, and at the time of interview, three grandchildren. This autobiographical vignette is based on excerpts from an interview I conducted of Dr. Shwachman and his wife in their home in Boston in 1984, 2 years prior to his death. © 2008 Wiley‐Liss, Inc.
Expanding the phenotype of mosaic trisomy 20
Authors: Willis Mary J.H. , Bird Lynne M. , Dell'Aquilla Marie , Jones Marilyn C. 
Published: January 2008

AbstractMosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90–93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow‐up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously been suggested. Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist. We have attempted to identify a set of findings for which any child diagnosed with mosaic trisomy 20 should be assessed or followed even in the presence of an apparently normal physical exam at birth. © 2008 Wiley‐Liss, Inc.
Chromosome deletions in 13q33–34: Report of four patients and review of the literature
Authors: Walczak‐Sztulpa Joanna , Wisniewska Marzena , Latos‐Bielenska Anna , Linné Maja , Kelbova Christina , Belitz Britta , Pfeiffer Lutz , Kalscheuer Vera , Erdogan Fikret , Kuss Andreas W. , Ropers Hans‐Hilger , Ullmann Reinhard , Tzschach Andreas 
Published: January 2008

AbstractDeletions of chromosome bands 13q33–34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33–34 that have been characterized by tiling‐path array‐CGH. Patient 1 had mental retardation and microcephaly with an interstitial 4.7 Mb deletion and a translocation t(12;13)(q13.3;q32.3). His mother (Patient 2), who also had mental retardation and microcephaly, carried the identical chromosome aberration. Patient 3 was a girl with a de novo insertion ins(7;13)(p15.1;q22q31) and interstitial 4.5 Mb deletion in 13q33–34. She had mental retardation and microcephaly. Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and hypospadias) and microcephaly. He had a de novo ring chromosome 13 lacking the terminal 9.3 Mb of 13q. Karyotype–phenotype comparisons of these and eight previously published del13q33–34 patients suggest EFNB2 as a candidate gene for genital malformations in males. Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly. © 2008 Wiley‐Liss, Inc.
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho‐dento‐osseous syndrome
Authors: Wright J. Timothy , Hong Sung P. , Simmons Darrin , Daly Bill , Uebelhart Daniel , Luder Hans U. 
Published: January 2008

AbstractThe distal‐less homeobox gene DLX3 is expressed in a variety of tissues including placenta, skin, hair, teeth, and bone. Mutation of DLX3 (c.571_574delGGGG) causes the tricho‐dento‐osseous syndrome (TDO), characterized by abnormal hair, teeth, and bone. Evaluation of a kindred segregating the DLX3 c.561_562delCT mutation revealed distinct changes in the hair, teeth, and bones as has been observed with the DLX3 c.571_574delGGGG mutation. Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. The present study shows that the DLX3 c.560_561delCT mutation causes an attenuated TDO phenotype with less severe hair, tooth, and bone manifestations compared with individuals having the DLX3 c.571_574delGGGG mutation. Careful phenotyping of individuals with allelic DLX3 mutations reveals marked differences in phenotypic severity indicating that the carboxy‐terminus of the DLX3 protein is critical in determining its function during development in these different tissues. © 2008 Wiley‐Liss, Inc.
Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene
Authors: Gay Sébastien , Dupuis Delphine , Faivre Laurence , Masurel‐Paulet Alice , Labenne Marc , Colombani Marina , Soichot Pierre , Huet Frédéric , Hainque Bernard , Sternberg Damien , Fontaine Bertrand , Gouyon Jean‐Bernard , Thauvin‐Robinet Christel 
Published: January 2008

AbstractWe report on a patient with a severe, rare neonatal form of non‐dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold‐induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non‐specific and electromyography revealed intense generalized myotonia. The myotonic episodes improved after introducing oral mexiletine and maintaining room temperature at 28°C. The patient died at 20 months of age following a bronchopulmonary infection. A previously undescribed de novo heterozygous c.3891C > A change, which predicts p.N1297K in the SCN4A gene. Mutations within the voltage‐gated sodium channel alpha‐subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium‐aggravated myotonias. The cold‐sensitive episodes of stiffness followed by weakness suggested the diagnosis of channelopathy in our patient. However, her neonatal onset, the triggering of severe episodes by exposure to modest decreases in temperature, involvement of respiratory muscles with prolonged apnea, early‐onset muscle hypertrophy, psychomotor retardation, and fatal outcome are evocative of a distinct clinical subtype. Our observation expands the phenotypic spectrum of sodium channelopathies. © 2008 Wiley‐Liss, Inc.
Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
Authors: Nowaczyk Małgorzata J.M. , Carter Melissa T. , Xu Jie , Huggins Marlene , Raca Gordana , Das Soma , Martin Christa Lese , Schwartz Stuart , Rosenfield Robert , Waggoner Darrel J. 
Published: January 2008

AbstractDeletions of the long arm of chromosome 6 are relatively uncommon and to date minimal genotype–phenotype correlations have been observed. We report on three unrelated patients with de novo paternal interstitial deletions of 6q24.3. FISH mapping was used to delineate the minimal region of overlap between these three patients. Although all three patients had different size deletions and different breakpoints, two of the patients shared a 2.5 Mb region of overlap and strikingly similar facial features including a triangular face, frontal bossing with metopic prominence, short and upward‐slanting palpebral fissures, asymmetry of upper eyelids, hooded eyelids, shallow orbits, prominent inferior orbital crease, wide mouth, and long and flat philtrum. They also had redundant skin, joint laxity, a small thorax, and early developmental delay. The smallest region of overlap between all three patients was a region of deletion less than 1 Mb; all had a history of IUGR and postnatal short stature without overt radiologic skeletal anomalies. The dysmorphic features, early developmental and growth delay may be due to the hemizygous state for one of the genes in the deleted region of two of the patients or to a long range effect of the deletion on expression of other genes. In addition, since imprinted genes have been reported in this region, paternal deletion of an imprinted gene in all three patients may contribute to the growth phenotype. We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3. © 2008 Wiley‐Liss, Inc.
Empirical data about women's attitudes towards a hypothetical pediatric biobank
Authors: Neidich Alon B. , Joseph Josh W. , Ober Carole , Ross Lainie Friedman 
Published: January 2008

AbstractResearchers at the University of Chicago sought institutional review board (IRB) approval to establish both an obstetrical biobank (Chicago Lying‐in Pregnancy Program [CLIPP]) and a pediatric biobank (KidsGene). Before KidsGene was approved, the IRB requested additional ethical review. The research ethics consultation service noted that no empirical data existed about parental attitudes towards this type of project. Postpartum women 18 years or older who delivered at the University of Chicago Hospitals and had live infants on the General Care Nursery service were approached about participating in a survey about the CLIPP biobank and about a hypothetical pediatric biobank. Two hundred thirty‐nine women were consented and completed most or all of the survey. Eighty‐two percent self‐classified as Black and seven percent were Caucasians. Caucasians were the most willing to enroll their children hypothetically into a pediatric biobank with non‐Black minorities being the most uncertain about what they would do. Almost half of the women thought that the research had the main goal of advancing science although a similar number expressed the belief that the research had the main goal of helping their individual child. Women supported use of the samples for a wide array of pediatric conditions. Comprehension of research practices, trust in medical researchers, and a belief that the research findings would be used fairly correlated with enrollment. Our survey found that most women support biobank development for research purposes. Most respondents expressed optimism that the results will yield significant benefits and that the benefits will be distributed fairly. © 2008 Wiley‐Liss, Inc.
A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
Authors: Furuya Hirokazu , Ikezoe Koji , Wang Lixiang , Ohyagi Yasumasa , Motomura Kyoko , Fujii Naoki , Kira Jun‐ichi , Fukumaki Yasuyuki 
Published: January 2008

AbstractFibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great‐toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease‐associated mutations. We report here on a 62‐year‐old man with slowly progressive FOP and a novel mutation in ACVR1. He developed difficulty in moving his shoulder since age 10 years due to contraction of the shoulder joint. The symptoms progressed slowly, and he could not walk at age 36 years and was bedridden at 55 years. He also showed rigid spine, baldness, sensorineural hearing loss, and hypodactyly accompanied by abnormal ectopic ossification. Analysis of ACVR1 and its cDNA revealed that the patient is heterozygous for a mutation, 1067G > A (G356D). Typing of SNPs located in the ∼0.5‐Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient. © 2008 Wiley‐Liss, Inc.
Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome
Authors: Pénisson‐Besnier Isabelle , Lebouvier Thibaud , Moizard Marie‐Pierre , Ferré Marc , Barth Magalie , Marc Guillaume , Raynaud Martine , Bonneau Dominique 
Published: January 2008

AbstractWe report on the case of a 44‐year‐old man affected with the Simpson–Golabi–Behmel syndrome (SGBS) (OMIM 312870) presenting with ischemic stroke due to a dissection of the right internal carotid. Molecular genetic analysis revealed the p.Gly556Arg mutation in exon 8 of the gene encoding glypican 3 (GPC3). This is the second case of a GPC3 missense mutation to be reported. The only risk factor found in this patient was carotid redundancy, a deformation that is significantly associated with spontaneous carotid dissection. The natural history of SGBS in adults is poorly known, and this case raises the question of a possible vascular risk associated with the disease. © 2008 Wiley‐Liss, Inc.
Failure to replicate effect of kibra on human memory in two large cohorts of European origin
Authors: Need Anna C. , Attix Deborah K. , McEvoy Jill M. , Cirulli Elizabeth T. , Linney Kristen N. , Wagoner Ana Patricia , Gumbs Curtis E. , Giegling Ina , Möller Hans‐Jürgen , Francks Clyde , Muglia Pierandrea , Roses Allen , Gibson Greg , Weale Mike E. , Rujescu Dan , Goldstein David B. 
Published: January 2008

AbstractIt was recently suggested that the Kibra polymorphism rs17070145 has a strong effect on multiple episodic memory tasks in humans. We attempted to replicate this using two cohorts of European genetic origin (n = 319 and n = 365). We found no association with either the original SNP or a set of tagging SNPs in the Kibra gene with multiple verbal memory tasks, including one that was an exact replication (Auditory Verbal Learning Task, AVLT). These results suggest that Kibra does not have a strong and general effect on human memory. © 2008 Wiley‐Liss, Inc.