bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tetraploidy in a 15‐month‐old girl
Authors: Shiono Hiroshi , Azumi Jun‐ichi , Fujiwara Masataka , Yamazaki Hirobumi , Kikuchi Koukichi , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present a 15‐month‐old‐girl with tetraploidy and compare the manifestations with those of 3 previously reported liveborn infants with the same type of polyploidy. Common anomalies noted included micro‐turricephaly, a prominent but narrow forehead, microphalmia or anophthalmia, limb anomaly, sacral meningomyelocele, and mental retardation.
Extracellular matrix and cell surface as determinants of connective tissue differentiation
Authors: Solursh Michael 
Published: June 2005

AbstractThis paper reviews in vitro studies, largely from the author's laboratory, concerning the conditions that are permissive for the differentiation, of limb bud mesenchymal cells into chondrocytes. In high‐density cell culture, even in a defined medium, the same normal sequence of events that is found in vivo in developing cartilage is also observed. This system can be used to study heritable disorders in model systems such as in mutant mouse embryos. In addition, single mesenchymal cells can differentiate into hypertrophic chondrocytes in hydrated collagen gel or agarose cultures. A rounded cell shape promotes chondrogenesis, while a flattened cell shape promotes fibroblast differentiation. The actin cytoskeleton is shown to play a central role in regulating connective tissue cell differentiation. By use of such cell culture manipulations, it is now possible to grow large numbers of fibroblastic cells from human biopsy material for storage and to carry out experimental studies after reexpression of chondrogenesis in gel cultures. It is suggested that cytoskeletal‐extracellular matrix interactions play a fundamental role in connective tissue differentiation. Matrix receptors might be developmentally regulated and modify epithelial effects on mesenchymal cells. In this way mesenchymal cells differentiate in a highly organized manner in spatial and temporal terms.
Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue
Authors: Prockop Darwin J. , Constantinou Constantinos D. , Dombrowski Kenneth E. , Hojima Yoshio , Kadler Karl E. , Kuivaniemi Helena , Tromp Gerard , Vogel Bruce E. 
Published: June 2005

AbstractRecent data from several laboratories have established that most variants of osteogenesis imperfecta (OI) are caused by mutations in the 2 structural genes for type I procollagen. There are 2 general reasons for the large number of mutations in type I procollagen in OI. One reason is that most of the structure of the procollagen monomer is essential for normal biological function of the protein. The second reason is that most of the mutations cause synthesis of structurally altered proα chains of type I procollagen. The deleterious effects of the structurally altered proα chains are then amplified by at least 3 mechanisms. One mechanism is a phenomenon referred to as “procollagen suicide” whereby altered proα chains cause degradation of normal proα chains synthesized by the same cell. Another mechanism involves the fact that many of the structurally altered proα chains prevent normal processing of the N‐propeptides of procollagen and persistence of the N‐propeptide interferes with normal fibril assembly. A third mechanism is a recently discovered phenomenon in which a substitution of a bulkier amino acid for glycine can cause a kink in the triple helix of the molecule. The kinked collagen, in turn, causes formation of abnormally branched fibrils. Because the deleterious effects of abnormal proα chains are amplified by these 3 mechanisms, most of the mutations are dominant and many are dominant lethal.The conclusion that most variants of OI are caused by mutations in the structural genes for type I procollagen has broad implications for other diseases that affect connective tissue, diseases such as chondrodystrophies, osteoarthritis, and osteoporosis.
Radiologic nosology of bone dysplasias
Authors: Spranger J. 
Published: June 2005

AbstractThe usefulness of radiodiagnostics in the delineation of bone dysplasias is exemplified by an attempt to classify the lethal osteochondrodysplasias. Based on morphologic criteria these disorders are subdivided into 11 major categories. Within these categories pathogenetically related bone dysplasia families can be discerned. Radiology meets its limits when different mutations lead to identical or overlapping phenotypes. In the future radiology will keep its prominent place in the diagnosis and nosology of inborn errors of skeletal development because of its ready availability, speed, non‐invasiveness, and discriminating power. As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition.
New X‐linked syndrome of mental retardation, short stature, and hypertelorism
Authors: Stoll Claude , Géraudel André , Chauvin Annick 
Published: June 2005

AbstractWe present a three‐generation family with five retarded, abnormally appearing males and two abnormally appearing females (presumably manifesting carriers). The phenotype of the patients is different from that of all other previously described types of X‐linked mental retardation (XLMR). The patients had prominent forehead, frontal bossing, hypertelorism, broad nasal tip, and anteverted nares. Chromosomes were normal including fragile X analysis. Skeletal roentgenograms were normal.
Inbreeding effect on morbidity: IV. Further data in Brazilian populations
Authors: Kaku Margaret , Freire‐Maia Newton 
Published: June 2005

AbstractThe analysis of the data on 5677 children of 1063 couples from a fourth sample of consanguineous and nonconsanguineous marriages among whites and nonwhites living in the State of Minas Gerais, Brazil led to the following estimates: B (number of abnormal equivalents per gamete) around 0.5; A (morbidity in the non‐inbred subsamples) 2–3 percent; B/A 13, 15, and 27 (this suggests that the morbidity disclosed by inbreeding may predominantly represent a mutational load): RR ( relative risk) about 2 (this means that among the children of consanguineous marriages there is about double the frequency of abnormalities than in those with nonconsanguineous marriages); AR (attributable risk) for the whole sample about 7% (5% for nonwhites and and 15% for whites). These last valuse show the amount that the frequency of abnormalities would decrease in the population in the risk factor (consanguineous marriages) would be eliminated. AR is higher in whites because the frequency of the risk factor is higher among whites.
Hemifacial microsomia: Developmental consequence of perturbation of the auriculofacial cartilage model?
Authors: Cousley R. R. J. , Wilson D. J. 
Published: June 2005

AbstractThe cause of hemifacial microsomia (HFM) is currently the subject of much investigation. Despite a large body of clinical and experimental data, little is certain other than the heterogeneity of this malformation complex. Here we suggest that some of the cases previously designated as being multifactorial in origin may be interpreted instead as resulting from a single‐gene mutation, by applying a stochastic single‐gene model. A variety of models of the pathogenesis of HFM have been described, including the proposal that local embryonic haemorrhage is a causal mechanism. More recently, it has been suggested that an interference in chondrogenesis is primarily responsible for the HFM phenotype. In this paper direct experimental evidence, based on surgical interference of mandibular development in the chick embryo, is applied in favour of the latter concept. In particular, asymmetrical perturbation of Meckel's cartilage has been shown to result in asymmetry of the mandible, and it is proposed that, irrespective of cause, the skeletal pathogenesis of HFM primarily involves the auriculofacial cartilage model.
Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents
Authors: van den Ende Jenny J. , van Bever Yolande , Rodini E. S. O. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed “new” autosomal recessive syndrome.
Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations
Authors: Wisniewski K. E. , Kida E. , Patxot O. F. , Connell F. 
Published: June 2005

AbstractWe reviewed the clinical and pathological data on 319 neuronal ceroid lipofuscinosis (NCL) cases to determine the degree of variability within the different forms and among and within families. Thirty‐six cases (11.3%) were the infantile form; 116 cases (36.3%), late infantile, 163 cases (51.1%), juvenile; and four cases (1.3%), the adult form (Kufs disease). Clinical variability was found in all forms studied, but was most striking in the juvenile and late infantile forms of NCL. The expected initial findings of seizures, dementia, blindness, or motor impairment were evident in 255 cases (80%), and rarer, less typical initial neurological symptoms were seen mainly in the 64 cases (20%) of the juvenile form: behavior abnormalities (18/64), psychoses (12/64), neuropathy (2/64), involuntary movements (15/64), ataxia (9/64), Six juvenile and two adult cases had no detectable impairment of vision. All 319 NCL cases had skin or conjunctiva biopsies or buffy that showed the characteristic ultrastructural abnormalities of NCL.Variability was evident in 16.7% in that a combination of fingerprint, curvilinear, and membranous profile inclusion bodies was observed in storage lysosomes, although one type of inclusion was distinctly predominant for each form. Postmortem examination of brains of 19 NCL cases (three with the infantile form, six with the late infantile form, nine with the juvenile form, and one with the adult form) revealed characteristic changes, Sixteen of the 19 NCL brains (84%) showed pathological variability in that they contained more than one kind of characteristic inclusion body in the neuronal lysosomal storage compartment. In all 19 NCL brains, small amounts of aging lipofuscin were also found. In three late infantile cases, neuronal cytoplasmic inclusion bodies were found mainly in the basal ganglia, midbrain, and cerebellar (BG), At the ultrastructural level, theses inclusions were found to be large lysosomes filled with very densely packed curvilinear profiles. Histological and immunocytochemical staining properties of these basal ganglial, midbrain, and cerebellar neurons were found to be different from those storage neurons of other brain regions in this subform and other NCL forms. Therefore, we conclude that these cases represent a distinct NCL subtype. More confounding was the discovery of several neuritic plaques in the fronto‐temporal lobes of a 53‐year‐old female with the adult form. Our present results reveal theat not all epitopes of amyloid β‐precursor protein (APP) can be detected in the NCL brain, and moreover, their distribution and intensity of immunostaining vary, not only among different NCL forms but in some instances with the same forms. The significance of high levels of epitope expression of certain APP domains in NCL brains is still unknown and needs further biochemical studies.
Neurology of the neuronal ceroid‐lipofuscinoses: Late infantile and juvenile types
Authors: Boustany Rose‐Mary 
Published: June 2005

AbstractMy experience with more than 80 cases of the late infantile and juvenile forms of the neuronal ceroid‐lipofuscinoses over the last 5 years has led to the following realizations. The 2 variants are neurologically distinct entities and probably are the result of different genetic defects. Treatment includes supportive measures and anticonvulsant medication. Therapy for behavioral and psychiatric disturbances in the juvenile type proves to be particularly challenging as neuroleptic medications tend to worsen parkinsonian like symptoms. Neuropathologic and neuro radiologic explanation of clinical symptomatology correlates best with neuronal loss and not neuronal storage. There is a paucity of neuropathologic documentation of these 2 types; additional reports are encouraged.
Protease inhibitors as a model for NCL disease, with special emphasis on the infantile and adult forms
Authors: Ivy Gwen O. 
Published: June 2005

AbstractAn animal model of NCL disease has been developed with the use of protease inhibitors. Young rats received a continuous infusion of various specific protease inhibitors or of physiological saline into the lateral ventricle of the brain using osmotic mini‐pumps. Treatment lasted for 2 weeks, at which time animals were sacrificed and the brains were removed and processed for light or electron microscopic analysis. The thiol protease inhibitors leupeptin and E64C, but not saline or the serine protease inhibitor aprotinin, caused a massive accumulation of ceroid‐lipofuscin (CL) in brain cells that bore a strong morphological resemblance to the CL in the infantile and adult forms of NCL disease, and bore similarity to the CL of the late infantile and juvenile forms. Leupeptin also caused the death of cerebellar Purkinje cells, as is seen in the infantile and adult forms of NCL. Further evidence is presented in support of the hypothesis (Ivy et al.: Science 226:985–987, 1984) that decreased or defective lysosomal thiol proteases or their substrates may underly the pathogenesis of at least the infantile and adult forms of NCL disease. Administration of protease inhibitors to the brains of young rats provides an important model for studying the cellular mechanisms of ceroid‐lipofuscinogenesis.
Ceroid lipofuscinosis in the Border Collie dog: Retinal lesions in an animal model of juvenile Batten disease
Authors: Taylor Rosanne M. , Farrow Brian R. H. 
Published: June 2005

AbstractCeroid lipofuscinosis, an inherited disorder of lipopigment accumulation, was identified in a group of Border Collie dogs. The dogs developed mental, motor, and visual signs between age 15 and 22 months and progressed rapidly to severe neurological disease. The principal signs were blindness and gait and behavioural abnormalities with progressive dementia. Lipopigment accumulation was severe in neurones and glial cells of the central nervous system and was present in some visceral cells. Inclusions with variable ultra‐structure were common in all cells of the retina, but the pigment accumulation did not damage the retinal architecture. The cytoplasmic inclusions were granular, sud‐anophilic, eosinophilic, and autofluorescent. Ultrastructural morphology varied, but fingerprint and curvilinear patterns predominated. The retinal lesions in the Border Collies were similar to those in English Setters with ceroid lipofuscinosis, but were much less severe than in juvenile human ceroid li‐pofuscinosis. This disorder bears a close resemblance to ceroid lipofuscinosis in English Setters and is another useful model for Batten's disease.
Report of another family with Simpson‐Golabi‐Behmel syndrome and a review of the literature
Authors: Garganta Cheryl L. , Bodurtha Joann N. 
Published: June 2005

AbstractSimpson‐Golabi‐Behmel Syndrome (SGBS), an X‐linked encephalo‐tropho‐schisis syndrome described in fewer than a dozen families, is characterized by pre‐ and postnatal overgrowth, “coarse” face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded. © 1992 Wiley‐Liss, Inc.
Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant
Authors: Gillar Patty J. , Kaye Celia I. , Ryan Stephen G. , Moore Charleen M. 
Published: June 2005

AbstractWe describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype‐phenotype correlations are still not possible for this region of chromosome 7. © 1992 Wiley‐Liss, Inc.
Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype
Authors: Karnitis Sue A. , Burns Kathy , Sudduth Kathy W. , Golden Wendy L. , Wilson William G. 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well‐defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14) (pter→q24.3::q32.1→qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients. © 1992 Wiley‐Liss, Inc.
Experimental fetal alcohol syndrome: Proposed pathogenic basis for a variety of associated facial and brain anomalies
Authors: Kotch Lori E. , Sulik Kathleen K. 
Published: June 2005

AbstractAcute teratogenic exposure of C57Bl/6J mouse embryos to ethanol in vivo results, within 12 hours of initial insult, in excessive cell death in selected cell populations. The patterns of excessive cell death observed following exposure of gestational day 8 embryos (late presomite—approximately 5 somite pair stages) vary somewhat temporospatially, but primarily involve the cell populations at the rim of the anterior neural plate. The cell death patterns appear to be pathogenically correlated with subsequently observed malformations including exencephaly (anencephaly), arhinencephaly, pituitary dysplasia, bilateral or unilateral cleft lip, maxillary hypoplasia, and median facial deficiencies and clefts. The association of these brain and facial malformations in this model, and perhaps in humans, may be accounted for by early insult to the selected cell populations identified in the current investigation. © 1992 Wiley‐Liss, Inc.
Esophageal atresia and tracheoesophageal fistula in two infants born to hyperthyroid women receiving methimazole (tapazol®) during pregnancy
Authors: Ramírez Aurora , de los Monteros Antonio Espinosa , Parra Adalberto , de León Beatriz 
Published: June 2005

AbstractWe report on 2 newborn infants with esophageal atresia and tracheoesophageal fistula (EA + TEF) born to hyperthyroid mothers receiving methimazole (Tapazol ®) before and during their entire pregnancies. Both mothers were euthyroid during gestation and developed hydramnios diagnosed during weeks 34 and 33 of gestation. Premature delivery (36.2 weeks of gestation) occurred in one case, and both newborn infants were small for date with palpable goiter; one of them had other associated malformations. Hypo‐thyroidism was diagnosed by laboratory tests in both cases. Corrective surgery was undertaken, but both newborn infants developed septicemia and renal insufficiency and died in the first week of life. The EA + TEF and a normally placed enlarged thyroid gland were confirmed at necropsy. These cases represent a previously unreported example of the association of maternal ingestion of methimazole during pregnancy and EA + TEF. © 1992 Wiley‐Liss, Inc.
Tentative assignment of a locus for Rubinstein‐Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
Authors: Tommerup Niels , Van Der Hagen Carl B. , Heiberg Arvid 
Published: June 2005

AbstractDuring a systematic chromosomal survey of 7 unrelated patients with Rubinstein‐Taybisyndrome, an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo reciprocal translocation associated with Rubinstein‐Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3. © 1992 Wiley‐Liss, Inc.
Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency
Authors: Martínez‐Frías María‐Luisa , Frías Jaime L. , Galán Enrique , Domingo Rosario , Paisán Luis , Blanco Manuel 
Published: June 2005

AbstractWe studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheo‐esophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome. © Wiley‐Liss, Inc.
Clinical phenotype and molecular analysis of a three‐generation family with an interstitial deletion of the short arm of chromosome 5
Authors: Keppen L. D. , Gollin S. M. , Edwards D. , Sawyer J. , Wilson W. , Overhauser J. 
Published: June 2005

AbstractWe report on a 3‐generation family with an interstitial deletion of the short arm of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del(5) (pter‐>p14.3::p13.3‐>qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13. © Wiley‐Liss, Inc.
Golgi‐Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness
Authors: Kornguth Steven , Gilbert‐Barness Enid , Langer Elaine , Hegstrand Linda 
Published: June 2005

AbstractThis report describes the morphological changes observed in the brain of an untreated 27‐year‐old man with phenylketonuria, cortical blindness, and seizures. Golgi–Kopsch silver, cresyl violet, and hematoxylin and eosin stains were used to study cell structure and organization of the cerebellum, the lateral geniculate nuclei, the visual cortex, frontal cortex, and hippocampus. Extensive neuronal losses occurred in the right lateral geniculate nucleus (LGN), the visual cortex, and hippocampus. The left LGN, cerebellum, and frontal cortex retained neuronal components; there was a reduction in the number of dendritic processes on the Purkinje cells of the PKU subject. The loss of neurons in the LGN and occipital cortex is related to the blindness and the neuronal loss in the hippocampus is related to seizure activity. © Wiley‐Liss, Inc.