bluuebunny/crossref_metadata_2025_split huggingface dataset:
L1CAM and X-Linked Hydrocephalus
Authors: Schrander-Stumpel Connie , Fryns Jean-Pierre 
Published: November 2023

Abstract
Mutations in the L1 cell adhesion molecule (L1CAM) gene encoding for the neural (L1) cell adhesion molecule L1CAM, located at Xq28, result in a varying clinical spectrum. Manifestations range from lethal congenital hydrocephalus in males (X-linked hydrocephalus or hereditary stenosis of the aquaductus of Sylvius [HSAS], OMIM 307000) to mild to moderate mental retardation combined with spastic paraplegia (with or without hydrocephalus on brain imaging): MASA syndrome (mental retardation, aphasia or slow speech development, shufMing gait or spastic paraplegia, and adducted thumbs; OMIM 303350) (Schrander-Stumpel and Vos, 2006). X-linked spastic paraplegia (SPG1, OMIM 312900) is included in the spectrum, as is “L1 syndrome” (OMIM 308840), which includes the X-linked agenesis of the corpus callosum and mental retardation with clasped thumb.
FRAS1 and FREM2 and the Fraser Syndrome
Authors: Smyth Ian , Scambler Peter 
Published: November 2023

Abstract
Fraser syndrome (FS) is a recessive multisystem disorder characterized by cryptophthalmos, cutaneous syndactyly, renal defects, and a range of other developmental abnormalities. More than 17 years ago the family of four mapped mouse “blebs” mutants were proposed as models of this disorder, given their striking phenotypic overlaps. The blebs mutants all demonstrate intrauterine blistering. Two FS and four bleb genes have been cloned revealing a family of three large extracellular matrix (ECM) proteins (Fras1, Frem1, Frem2) and an intracellular adapter protein [glutamate receptor interacting protein (Grip1)] which are required for normal epidermal adhesion early in development. FRAS1 and FREM2 are the human FS genes, Fras1, Frem1, Frem2, and Grip1 are mutated in blebs mice. Fras1 and Frem2 require Grip1 for presentation at the apical surface of keratinocytes, whereas Frem1 is a protein secreted from the dermal cell layer. The proteins interact with collagens in the epidermal basement membrane (BM) but it is uncertain whether this is a direct or indirect relationship. The Fras/Frem/Grip proteins have also been shown to play a crucial role in the development of the kidney and maintenance of its subsequent structural integrity.
EFNB1 and EFNA4 in Craniofrontonasal Syndrome and Craniosynostosis
Authors: Twigg Stephen R F , Wilkie Andrew O M 
Published: November 2023

Abstract
Craniofrontonasal syndrome (CFNS) has a distinctive pattern of presentation in which females are characteristically affected, whilst males are fewer in number and tend to have a milder phenotype. CFNS is not transmitted to the sons of male carriers but invariably is to their daughters, supporting an X-linked mode of transmission. The markedly milder phenotype in males than females presents a paradox which has only recently been resolved with the discovery that mutation of EFNB1, which maps to Xq13.1 and encodes a protein involved in cell recognition (ephrin-B1), is responsible for most cases of CFNS. Analysis of the knockout (KO) Efnb1 mouse, in which heterozygous females have a more severe phenotype than either hemizygous males or homozygous females, has led to a model of pathogenesis whereby the process of X-inactivation leads to aberrant sorting of ephrin-B1 wild type and mutant cells in the heterozygous female, with the result that ectopic tissue boundaries are formed. This process has been termed “cellular interference” and cannot occur in hemizygous males. The generally milder phenotypes observed in males suggest that ephrin-B1 function is redundant in most tissues where it is expressed.
ANKH and Craniometaphyseal Dysplasia
Authors: Nürnberg Peter , Tinschert Sigrid 
Published: November 2023

Abstract
Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Affected individuals display highly variable features ranging from barely discernible anomalies to severe nasal obstruction, compression and functional impairment of cranial nerves, and increased intracranial pressure. An autosomal- dominant form of the disorder (CMDD; OMIM 123000) was linked to chromosome 5p15.2-p14.1 within a region harboring the human ortholog of the mouse progressive ankylosis (Ank) gene. The gene codes for a protein with a putative role in the transport of inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralization, and bone resorption. Sequencing of the 12 exons of ANKH revealed six different heterozygous mutations in several unrelated CMD patients, including sporadic cases with supposed autosomal-recessive CMD (CMDR; OMIM 218400). The mutations occurred at highly conserved amino acid residues presumed to be located in the cytosolic portion of the multipass transmembrane ANK protein. The dominant effect of the ANKH mutations in CMD patients contrasts with the recessive character of the truncating mutation in the ank mouse and suggests a gain of function or a dominant-negative effect as the molecular basis of the CMD pathology. So far, no phenotype–genotype correlation is evident.
LMBR1 and Acheiropodia and Preaxial Polydactyly
Authors: Tsipouras Petros , Kilpatrick Michael W 
Published: November 2023

Abstract
Acheiropodia (OMIM 200500) is a genetically inherited limb malformation detected at birth. The condition was initially described in 1929 (Peacock, 1929) and since then, several reports have delineatedits clinical and radiographic phenotype(Toledoand Saldanha, 1969, 1972; Marcallo et al., 1979; Grimaldi et al., 1983; Fett-Conte and Richieri-Costa, 1990; Lemos Silveira and Freire-Maia, 1998). Recently, Acheiropodia was mapped on 7q36 (Escamilla et al., 2000; Ianakiev et al., 2001) in a region overlapping with that of Preaxial polydactyly (PPD, OMIM 1745000) (Heutink et al., 1994; Tsukurov et al., 1994). The two conditions albeit phenotypically distinct appear to originate from structural disruptions of the C7orf2 gene locus (Ianakiev et al., 2001), which encodes the orthologue of the murine Limb region 1 (Lmbr1) gene (Clark et al., 2000). While a null mutation of the C7orf2 gene transcript results in Acheiropodia, PPD probably results from the inability of the same locus to function as a cis-acting regulator for the Sonic hedgehog (SHH) gene (Lettice et al., 2002).
Talking about Literature
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Jefferson traveled to Versailles in May 1785 to assume his position as American minister to the Court of France. Presenting his credentials to King Louis XVI and the Comte de Vergennes, he underwent what he called the “ceremonies usual on such occasions.” His matter-of-fact description of the experience shows how little he cared for such pomp. Neither his contemporary correspondence nor his subsequent reminiscences reveal anything further about this visit to Versailles. However, there was one aspect of becoming ambassador Jefferson frequently recalled. Informing French acquaintances and officials of his new position in the forthcoming weeks, he had to endure the same question time and again. “C’est vous, Monsieur, quire place le Docteur Franklin?” they asked.
Summer of ‘86
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Jefferson’s springtime activities in London helped shape his summertime activities in Paris. After returning to France in May, he caught up his correspondence, writing several friends to tell them about his trip and inform them of his return. To one he described the painterly skill of John Trumbull, who was planning to visit Paris soon, though not as soon as Jefferson imagined. Trumbull did not reach Paris until late July. Before then, Jefferson had much that required his attention, including some unfinished literary business. The friendship he and William Stephens Smith had formed, combined with new contacts in London’s literary world, had given him an idea for marketing Dr. David Ramsay’s History of the Revolution in South Carolina, a problem that had been preying on his mind for months.
Last Days in Paris
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Returning to Paris from the Rhine Valley, Jefferson made up his mind: he would go back to Virginia—not permanently, just for a few months, time enough to bring his daughters home and straighten out his personal and financial affairs. When he had left Monticello in October 1783 to serve as delegate to the Continental Congress, he had planned to be away for only five months. It had now been five years since he had seen home. The third week of November 1788 he wrote Congress to ask for a leave of absence. He argued persuasively that he could make the trip without detriment to his responsibilities as American minister to France. His ministerial duties, he assured Congress, had reached a pause. His most pressing commitments had been fulfilled or would be in a matter of weeks. Most important, he had reached a new consular convention, which he was arranging to have printed. In addition, he had finished composing Observations on the Whale-Fishery, which would also be published soon.
The Anas
Authors: Hayes Kevin J 
Published: November 2023

Abstract
The late eighteenth century was the era of the ana, a time that saw many excellent of memorable sayings from remarkable people. It was the time of James Boswell’s Life of Johnson—”the Ana of all Anas,” Robert Southey called it. It was also the time of Thomas Jefferson’s The Anas, the finest work of its kind in American literature. The Anas contains notes on Jefferson’s conversations during his time as secretary of state. He did not set out to create a literary work while fulfilling his responsibilities in Washington’s cabinet. But as he continued serving as secretary of state, he realized that what Washington and other members of his administration were saying was worth putting down on paper. Jefferson was motivated to create The Anas for much the same reason he was motivated to take detailed notes of the proceedings of the Continental Congress a decade and a half earlier: they were useful at the moment—for recording important political business—but they were also useful in the long run, as a record of the beginnings of American democracy.
Letters from a Virginia Farmer
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Writing to Mann Page in the summer of 1795 to apologize for not joining him in Fredericksburg as they had planned, Jefferson began by listing excuses—”the heat of the weather, the business of the farm”—but he stopped short. Instead of providing any more specific reasons for his absence, he decided to supply a general excuse or, as he put it, “one round reason for all.” He said, “I have laid up my Rosinante in his stall, before his unfitness for the road shall expose him faultering to the world.” Jefferson’s “round reason” is both figurative and literary. The name Rosinante refers to Don Quixote’s superannuated steed. Once again, Jefferson was casting himself in the role of Cervantes’ hero. But no longer was he tilting at windmills: Thomas Jefferson was now Don Quixote in retirement.
Letters to an Old Friend
Authors: Hayes Kevin J 
Published: November 2023

Abstract
As a literary device, the dream vision reached its peak during the time of Pierce Plowman. By no means did it disappear from the literary discourse once the medieval period gave way to the Renaissance. John Bunyan’s Pilgrim’s Progress, the best-known dream vision of the seventeenth century, influenced such works as Benjamin Franklin’s “Silence Dogood, No. 4,” the best-known dream vision in early American literature. But Franklin was not the only early American author and, for that matter, not the only signer of the Declaration of Independence who wrote dream visions. Benjamin Rush greatly enjoyed writing them and some-times built dream visions into his personal letters.
The Retirement Library
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Once the last wagonload of books left Monticello for Washington, the suite of rooms that had contained Jefferson’s great library looked desolate. Altogether, about 25,000 pounds of books, which had covered about seven hundred square feet of wall space, were carted from Monticello to Washington. Because Jefferson had sold the bookcases with the books in them, the rooms were now a foot wider on each side. The bare walls, like the walls of Balclutha, had a melancholy look. Standing within this empty suite once the final wagon had left, Jefferson realized an important truth about himself. Well, perhaps he did not realize it at this precise moment. Perhaps he knew it all along. But at this particular moment he could have been reminded of it more poignantly than ever before. As he said in his next letter to John Adams, “I cannot live without books.” Jefferson knew what he needed to do next. He had to start a new library. Actually, he had begun making plans for a new collection even before shipping his books to Washington. Earlier that year he had spoken about rebuilding his library at Monticello with George Ticknor, who graciously offered his help. Since Ticknor was going to Europe for an extended stay, he would be in an ideal position to acquire books Jefferson could not readily obtain in America—scholarly editions of ancient Greek and Roman texts.
The Life and Soul of the University
Authors: Hayes Kevin J 
Published: November 2023

Abstract
When the University of Virginia officially opened its doors the first week of March 1825, the same week John Quincy Adams was inaugurated president, the school’s library remained far from completion—but not from want of trying. Besides giving Francis Walker Gilmer the responsibility of recruiting professors in Great Britain, Jefferson had also assigned him the task of purchasing books for the university while there. He wrote Gilmer a letter of introduction to the distinguished critic and scholar Samuel Parr, asking for his help. And he recommended that Gilmer contact Lackington’s, the London bookseller who had supplied numerous books for his personal library in the past. Parr turned out to be a great help. With his advice, Gilmer put together an excellent catalogue of classical books for the university.
Introduction
Authors: Layman C Stephen 
Published: November 2023

Abstract
Are there any good reasons to believe that God exists? That’s the question this book attempts to answer. But in my experience, it’s unwise to plunge directly into arguments for and against the existence of God. To avoid inevitable misunderstandings, we must first tackle certain preliminary issues. For example, what counts as a “good argument” in this context? Many people become disappointed with philosophy because they demand proofs. By a “proof” I mean an argument with these two features: (1) Its premises are acceptable to all rational people, and (2) its conclusion follows logically from its premises. Proofs in this sense are rare or nonexistent in philosophy. The defense of virtually any major philosophical position will involve controversial premises at some point, i.e., premises not acceptable to all rational people.
Theism and Naturalism
Authors: Layman C Stephen 
Published: November 2023

Abstract
Dear Zachary,
I know it has been a long time since you’ve heard from me much too long! But I think of you often and often wish I could talk with you. I miss our discussions and regret that we live so far apart. I’ve decided to write you some letters. If you don’t have time to reply, I’ll understand. But, to make a long story short, I’ve been doing a lot of thinking about religion lately-more specifically, about the existence of God. And I’m not too happy with the thoughts I’ve been having. They seem disorganized and muddled. To be honest, I don’t know where to start.
Anthroposophic Medicine, Integrative Oncology, and Mistletoe Therapy of Cancer
Authors: Heusser Peter , Kienle Gunver Sophia 
Published: November 2023

Abstract
Anthroposophic medicine (AM) is a holistic form of integrative medicine. AM uses a comprehensive multimodal therapy concept that simultaneously addresses specific processes and interactions of the physical body, life functions, soul, and spirit. In oncology, AM integrates conventional tumor therapy, mistletoe and other plant or mineral medications, art therapy (painting, modeling, music, poetry recitation), eurythmy (a movement therapy), and psycho-oncological and spiritual care. Quality of life (QoL) studies show significant improvements of global, physical, emotional, cognitive, spiritual, and social QoL after holistic AM treatment in advanced cancer.
Youth And Apprenticeship: The Sound And The Fury
Authors: Porter Carolyn 
Published: November 2023

Abstract
Faulkner’S Life Was all About Stories-Making Them Up, making them over, even making them true. As a child in Oxford, Mississippi, he was a famous storyteller, often spinning tales with more verisimilitude than veracity. He was also an ardent listener, as he had learned to be from listening to family stories told by his grandfather, his aunts and uncles, his neighbors, stories that were themselves often more made-up than not. Meanwhile, people began to tell stories about Faulkner as well, especially as he grew up and became a writer.
The Major Phase, Part 1: As I Lay Dying, Sanctuary, And Light In August
Authors: Porter Carolyn 
Published: November 2023

Abstract
On June 20, 1929, Faulkner married Estelle Oldham. He would soon turn thirty-two and Estelle was thirty-three years old. Recently divorced, Estelle brought two children, aged five and ten, to the marriage, along with her own anxieties and misgivings. Judging from what his biographers have reported, Faulkner was deeply ambivalent about this decision, and Estelle was sufficiently distraught while on her honeymoon that summer that she attempted suicide. The marriage was always to he a difficult one, intermittently a disaster, not least because both were alcoholics.
Predictors of Long-Term Course and Outcome for the DOSMeD Cohort
Authors: Siegel Carole , Wanderling Joseph A , Lin Shang , Baker Sherryl 
Published: November 2023

Abstract
An investigation of the predictors of long-term course and outcome for persons diagnosed with schizophrenia or a related psychosis was conducted using a subsample of subjects participating in ISoS who entered the study as Incidence cases. Earlier analyses of 2-year outcomes in both the Determinants of Outcome of Schizophrenia (DOSMeD) study and the International Pilot Study of Schizophrenia (IPSS) concurred that both cultural and illness factors play a strong role in predicting outcome. Specifically, persons in developing countries had more favorable outcomes than persons in the developed countries, and insidious onset predicted poorer outcome. While some subsequent studies agreed with the WHO studies’ finding on location (Karno and Jenkins, 1993), others questioned the prudence of the crude classification of centers according to the developing– developed dichotomy and the subsequent use of this categorization as a predictor of outcomes. Such an assignment, they argued, can mask differences both across cultures (Craig, Siegel, Hopper, Lin, and Sartorius, 1997) and within them, assuming as it does that cultures are relatively homogeneous (Hopper, 1991; Edgerton and Cohen, 1994).
Identifying Prognostic Factors That Predict Recovery in the Presence of Loss to Follow-Up
Authors: Drake Christiana , Levine Richard , Laska Eugene A 
Published: November 2023

Abstract
Typically, the identification of prognostic factors in longitudinal outcome studies is based on data from those individuals in the cohort who are not lost to follow-up (i.e., who have not been “censored”). Loss to follow-up is a common occurrence, and the longer the follow-up period the greater the chance it will occur. If the majority of subjects are uncensored, it is unlikely that estimates will be biased. But if the percentage of censored individuals is large, the likelihood of erroneous inference grows. Bias is not a problem if the mechanisms that govern loss to follow-up are statistically independent of the outcome measure. However, if this assumption does not hold, the possibility of bias must be considered.
IPSS: Agra, India
Authors: Dube K C , Kumar Narendar 
Published: November 2023

Abstract
Situated on the banks of the river Yamuna, 200 km southeast of Delhi, Agra is the third largest city (1.2 million population) in the northern province of Uttar Pradesh (UP), the largest Indian state with over 160 million population. The area lies in the fertile region of the Indo-Gangetic plains bounded on the north by the Himalayan mountains. In the 25 years since IPSS (1967), the city and other parts of the catchment area have had phenomenal growth and have developed industrially; the decennial growth rate between 1981 and 1991 was 25%. Consequently, Agra is very densely populated, and its narrow roads are choked with traffic of all sorts—automotive vehicles, rickshaws, scooters, cycles, bullock carts, horse-drawn carriages, and stray cattle, all with their various pollutants. The nearby town of Mathura has one of the biggest petroleum refineries in India, and the agricultural sector of the area is undergoing a green revolution with farmers converting to modern methods. Agra has two universities and scores of colleges and has become a tourist center.
Nottingham, U.K.
Authors: Harrison Glynn , Mason Peter 
Published: November 2023

Abstract
For centuries, England and Scotland have been ruled by a centralized monarchy. England achieved the transition to parliamentary democracy in the 17th century with only one major civil war. Surrounded by its ocean “moat,” Shakespeare’s “sceptered isle” resisted invasion by Spain and France and, in this century, by Germany. Some believe this has nurtured a sense of insularity and even unhealthy jingoism; others argue that it has generated a distinctive independence of thought and social cohesion. Seafaring trade and conquest built a global British empire, which led to the widespread diffusion of English language and culture. Following the transition to a self-governing Commonwealth of nations, the United Kingdom (England, Scotland, Wales, and Northern Ireland) resumed its status as a relatively small island off the coast of Europe and joined the European Union in 1971.
Rochester, New York
Authors: Wynne Lyman C , Holmberg Sharon 
Published: November 2023

Abstract
Metropolitan Rochester, New York, is located at about the midpoint of the southern shore of Lake Ontario, 550 km northwest of New York City. Rochester is the core city for an area about 110 km from east to west and about 80 km north to south. Monroe County, which runs some 60 km from east to west, is the jurisdiction within this metropolitan area in which most of the mental health services are provided. While surrounding counties have some of their own services, persons with severe problems, such as psychosis, come into the city medical facilities. Rochester’s strategic location has meant that there is very little duplication of resources within the area. From the epidemiological standpoint, this has two consequences: (1) At the time of primary data collection, there was no significant “leakage” from the area of persons with acute psychoses; all were screened through the Emergency Department of Strong Memorial Hospital, the site of the Rochester WHO Center. (2) Mobility is primarily from one neighborhood to another (e.g., from the inner city to the suburbs). People tend to stay within Monroe County and continue to receive public health care services within the same jurisdiction.