bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tibetan terrier model of canine ceroid lipofuscinosis
Authors: Riis Ronald C. , Cummings John F. , Loew Ellis R. , de Lahunta Alexander 
Published: June 2005

AbstractOver a 10‐year period, we have studied the Tibetan terrier's visual electrophysiology, light and electron microscopic (EM) retinal characteristics of a slowly evolving inherited ceroid lipofuscinosis (CL). The retinal degeneration with CL inclusions (rdi) in the inner nuclear layer (bipolar cells) and nerve fiber layer (ganglion cells) has been called “rdi” to differentiate the visual abnormality from typical early retinal degeneration (erd) reported also in the Tibetan terrier. The unique “rdi” electroretinogram (ERG) gives a predominant P III wave at age 7 weeks but becomes more characteristically depressed in all phases over several years. Nyctalopia is the only functional abnormality for the first 5 to 6 year of life. Signs are remarkably few considering the pathology. Microscopic studies of the retina show accumulations, increasing with age, of autofluorescent dense inclusion particles which stain intensely by Luxol fast blue, PAS, and acid‐fast procedures. Ultrastructural studies of the retina show the dense particles to be lamellar membranes repeating every 2 to 4 nm, consistent with ceroid lipofuscin. The inner retinal layers were always the target layer to be affected first and most severely. The ganglion cells were most frequently involved. The photoreceptors eventually degenerated but relatively few particles were found in this layer.The cytosomes in the cerebral cortex and brainstem neurons resemble lipofuscin, containing granular, lamellar, and globular components. Different pigment bodies were present in the cerebellar Purkinje cells. Neuronal loss which was moderate in the cerebellum and mild in the cerebrum was accompanied by astrogliosis and a striking presence of macrophages. The fine struture of the accumulated lipopigment varied regionally so that cytosomes in the cerebral cortical neurons differed from those in both the Purkinje cells and Bergmann glia of the cerebellum. While it was not possible to identify conclusively successive stages in a neurodegenerative progression, many remarkable cytologic changes were observed. These changes included 1) astrocyte swelling, 2) an abundance of lipopigment‐laden and vacuolated macrophages diffusely arrayed in the cerebrum but more focally concentrated in the cerebellum, and 3) distended macrophages encroaching upon abutting and distorting cerebral cortical neurons.Personality and learning changes along with mild functional abnormalities begin to show up from 4 to 6 years. The slow progression of neuronal degeneration and the greatly delayed appearance of mild clinical signs suggest that this canine disease may be a practical model for studies on the pathogenesis of neuronal senescence and the adult human form of CL.
Amelioration of clinical disease following bone marrow transplantation in fucosidase‐deficient dogs
Authors: Taylor Rosanne M. , Farrow Brian R. H. , Stewart Graeme J. 
Published: June 2005

AbstractCanine fucosidosis was studied as an animal model for the treatment of neurovisceral lysosomal storage disease. Following successful bone marrow engraftment, dogs with fucosidosis had increased levels of alpha‐L‐fucosidase enzyme activity in leukocytes, plasma, and neural and visceral tissues. This widespread increase in enzyme activity was accompanied by a rapid improvement in the peripheral nerve and visceral lesions of fucosidosis and a more gradual improvement in the central nervous system pathology. Long‐term engraftment from an early age reduced the severity and slowed the progression of clinical neurological disease. Transplantation after the onset of clinical signs was not effective. These findings suggest that the neurological damage caused by some inherited metabolic disorders, such as fucosidosis, may be preventable but emphasise the need for early diagnosis and treatment.
Monozygotic twinning and Wiedemann‐Beckwith syndrome
Authors: Clayton‐Smith Jill , Read Andrew P , Donnai Dian 
Published: June 2005

AbstractMonozygotic (MZ) twinning occurs with relatively high frequency in Wiedemann‐Beckwith syndrome (WBS). Ten sets of MZ twins with WBS have been reported. Nine of these have been female and in each case the twins were discordant for the WBS phenotype. The tenth set was male. They were concordant for WBS and both had a duplication of chromosome 15 which they shared in common with their phenotypically normal mother. The WBS gene has been asigned to the locus 11p15 and there appear to be several different genetic mechanisms involving this locus which all give rise to WBS. An imprinting effect for the WBS gene has been proposed because of the transmission of the gene preferentially through the maternal line in some large pedigrees. We describe two further sets of female M7 twins with WBS. One pair is concordant and one discordant for the condition. The possible genetic mechanisms involved in the expression of WBS are discussed, with particular reference to twinning, genomic imprinting and X‐inactivation which is thought to be associated with the occurrence of MZ twinning in females.
Recurrent Wiedemann‐Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)
Authors: Norman Andrew M , Read Andrew P , Clayton‐Smith Jill , Andrews Tony , Donnai Dian 
Published: June 2005

AbstractA baby with Wiedemann‐Beckwith syndrome (WBS) and her phenotypically normal mother carried the same paracentric inversion, inv(11)(p11.2 15.5), in the short arm of chromosome 11. A fetus, sib of the affected baby, had the same inversion and ultrasound scan showed exomphalos. The maternal grandmother is clinically and cytogenetically normal. The pattern of affection in this family is consistent with the suggestion that WBS can be caused by lack of a maternally imprinted gene at 11p15.5, and that in this family the inversion disrupts that gene.
Caroline crachami, the sicilian fairy: A case of bird‐headed dwarfism
Authors: Bondeson Jan 
Published: June 2005

AbstractOne of the most remarkable cases of extreme dwarfism on record is Caroline Crachami, the Sicilian Fairy. She was born in 1815, and was taken to London to be exhibited for money in 1824. Due to her proportional dwarfism, severe intrauterine growth retardation, and typical “bird‐headed” profile, Caroline Crachami has by some been diagnosed as a case of the autosomal recessive Seckel syndrome. In this historical vignette, the Sicilian Fairy's life and death are presented in some detail using new material, and the problem of her correct diagnosis is discussed. © 1992 Wiley‐Liss, Inc.
6p23 Deletion mosaicism in a woman with recurrent abortions and idiopathic hypoprolactinemia
Authors: D'Alessandro Elvira , Santiemma Vittorio , Re Maria Luisa Lo , Ligas Claudio , Del Porto Giuseppe 
Published: June 2005

AbstractA woman with a history of recurrent abortions, idiopathic hypoprolactinemia, and an apparent 6p partial deletion mosaicism is described. The breakpoint in the short arm of chromosome 6 was in the p23 region. This deletion could have been caused by a fragile site in 6p23. © 1992 Wiley‐Liss, Inc.
Further evidence for dominant inheritance at the chromosome 15q11‐13 locus in familial angelman syndrome
Authors: Clayton‐Smith J , Webb T , Robb S A , Dijkstra I , Willems P , Lam S , Cheng X‐J , Pembrey M E , Malcolm S 
Published: June 2005

AbstractEleven patients with Angelman syndrome (AS) and their parents from 5 families have been studied with high resolution chromosome analysis and molecular probes from region 15q11‐13 in an attempt to elucidate the mode of inheritance in familial AS. No deletions were detected. All families were informative with a combination of different short arm cytogenetic markers. All sets of sibs inherited the same maternal chromosome 15, but in 3 families sibs inherited different paternal 15s. Analysis of 6 polymorphic DNA markers supported the conclusion that AS sibs inherit the same maternal 15, but often different paternal 15s. These data make autosomal recessive inheritance at a 15q11‐13 locus very unlikely and support the hypothesis that familial AS is due to maternal transmission of a mutation within 15q11‐13. © 1992 Wiley‐Liss, Inc.
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet‐Biedl syndrome
Authors: Gershoni‐Baruch Ruth , Nachlieli Tal , Leibo Rina , Degani Shimon , Weissman Irith 
Published: June 2005

AbstractTwo infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echodense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5‐year‐old patient has led to the diagnosis of Bardet‐Biedl syndrome. This observation offers an opportunity to revisit the Bardet‐Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet‐Biedl syndrome in patients with infantile cystic kidney dysplasia. © Wiley‐Liss, Inc.
Bannayan‐Riley‐Ruvalcaba syndrome
Authors: Gorlin Robert J. , Cohen M. Michael , Condon Lawrence M. , Burke Barbara A. 
Published: June 2005

AbstractHere we report on 12 affected members of a family with Bannayan‐Riley‐Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan‐Zonana syndrome. Riley‐Smith syndrome, and Ruvalcaba‐Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy. © Wiley‐Liss, Inc.
Asymmetry quantification utilizing hand radiographs
Authors: McLeod D. Ross , Coupland Stuart G. 
Published: June 2005

AbstractAsymmetry can be either directional or fluctuating. Detection of abnormal amounts of asymmetry has important implications for clinical diagnosis, but measurement of subtle levels is very difficult. We describe a method and normative values for asymmetry quantification using hand radiographs. © Wiley‐Liss, Inc.
Application of the health belief model in a study on parents' intentions to utilize prenatal diagnosis of cleft lip and/or palate
Authors: Sagi Michal , Shiloh Shoshana , Cohen Tirza 
Published: June 2005

AbstractParents of children with cleft lip and/or palate (42 women and 35 men) participated in a study on intentions to use prenatal diagnosis of cleft by ultrasound in subsequent pregnancies. Based on the Health Belief Model (HBM) [Rosenstock, 1974], parents' cognitions on 4 factors were measured by questionnaires: “susceptibility” and “severity perceptions,” “benefits” and “barriers” evaluations. Most parents perceived the defect as severe. Overestimation of recurrence risks was predominant even among parents who had received genetic counseling. Results showed that most parents intend to utilize prenatal diagnosis but do not intend to abort an affected fetus. Subjects' reported reasons represented 3 thematic categories: cognitive (the need to know), emotional, and behavioral. Parents' intentions to diagnose and to terminate were related to the factors predicted by the HBM model. Regression analyses indicated that 38% of the variance in intentions to diagnose and 56% of the variance in intentions to terminate could be explained by the studied variables. The best predictor of both intentions was the perceived benefits of the diagnosis. Implications of these findings for genetic counseling are discussed. © Wiley‐Liss, Inc.
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of malouf syndrome
Authors: Narahara Kouji , Kamada Masahiro , Takahashi Yukio , Tsuji Kazushiro , Yokoyama Yuji , Ninomiya Shinsuke , Seino Yoshiki 
Published: June 2005

AbstractWe describe an 18‐year‐old girl with ovarian dysgenesis, dilated cardiomyopathy, mild mental retardation, broad nasal base, blepharoptosis, and minor skeletal abnormalities. This unusual association of manifestations was first reported by Malouf et al. [1985]. Our patient, although a sporadic case, supports the existence of Malouf syndrome. © Wiley‐Liss, Inc.
Utilization and evaluation of living‐related donors for patients with adult polycystic kidney disease
Authors: Hannig Vickie L. , Erickson Susan M. , Phillips John A. 
Published: June 2005

AbstractAdult onset polycystic kidney disease (ADPKD) cause 10% of all end‐stage renal disease in the United States. Use of living‐related donors for renal transplants provides significant advantages over cadaver donors. Presymptomatic testing to determine ADPKD status of potential donors by DNA linkage analysis is potentially more accurate than renal ultrasonography for related donors < 30 years old. To determine the utilization of living donor transplants and linkage studies, a survey was mailed to 202 transplant centers in the United Network of Organ Sharing. The 111 respondents reported 5,026 renal transplants done in 1988 of which 390 (7.8%) involved an ADPKD recipient. Only 7% of these 390 transplants utilized a living‐related donor compared to the 20% rate reported for all renal transplants. DNA linkage studies were not used by any of the centers performing related donor transplants in 1988 and only 29% reported provision of risk counseling. We conclude that living‐related transplants are underutilized for ADPKD recipients due to conservative transplant policies, concern about the inaccuracy of presymptomatic diagnosis, or decreased availability of asymptomatic donors in these families. DNA linkage analysis is also underutilized due to lack of knowledge of its availability and accuracy, concerns about its cost and misconceptions about the accuracy of ultrasonography. Since the accuracy of molecular genetics techniques for presymptomatic diagnosis of ADPKD continues to improve and because transplants from living‐related donors convey significant advantages to recipients over cadaver transplants, we recommend that (1) a living‐related transplant be considered when feasible for ADPKD patients, (2) genetic counseling and DNA linkage analysis for presymptomatic testing be utilized for related donors when applicable, and (3) communication be improved between renal transplant and genetic centers.
Neonatal hemochromatosis: Genetic counseling based on retrospective pathologic diagnosis
Authors: Ferrell Linda , Schmidt Kathleen , Sheffield Val , Packman Seymour 
Published: June 2005

AbstractWe report a case of neonatal hemochromatosis in which the genetic counseling was initiated by, and based on, retrospective pathologic diagnosis. Perinatal or neonatal hemochromatosis is beginning to be recognized as a distinct clinical entity and one of the most common causes of perinatal cirrhosis. The exact mechanism of liver damage and the relationship to adult type hemochromatosis have not been fully clarified. The pattern of fibrosis in the liver plus the abundant iron deposition in the liver and other organs separate this entity pathologically from other causes of neonatal liver failure. We report on a case of neonatal hemochromatosis that was diagnosed on retrospective autopsy review of an infant with supposed hereditary tyrosinemia, when the family presented for genetic counseling. This case emphasizes to the genetic counselor and pathologist the need to consider the diagnosis prenatally, after birth, or at death, as failure to do so would result in the inability to identify families at genetic risk for neonatal hemochromatosis or in mislabeling a family with another inborn error.
Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria
Authors: Levy Harvey L. , Lobbregt Deborah , Sansaricq Claude , Snyderman Selma E. 
Published: June 2005

AbstractTwo children, one with phenylketonuria (PKU) and the other nonphenylketonuric, from untreated pregnancies in a mother with PKU provided the opportunity to compare the degree of damage from maternal PKU between these genotypically different fetuses. Both the phenylketonuric offspring and her nonphenylketonuric sib were microcephalic at birth and had congenital anomalies, esophageal atresia in the former and congenital dislocation of the hip in the latter. However, the phenylketonuric child also had intrauterine growth retardation while the non‐phenylketonuric sib had normal weight and length at birth. Both children are mentally retarded with an IQ below 50 in the phenylketonuric child despite early dietary treatment for PKU and an IQ of 54 in the non‐phenylketonuric sib. Both children also have hypoplasia of the corpus callosum and enlarged cerebral ventricles. This experience and review of the literature indicates that the residual liver phenylalanine hydroxylase activity of a nonphenylketonuric fetus offers little or no protection from damage in untreated maternal PKU. Consequently, the outcome in maternal PKU is likely to depend on control of the maternal biochemical abnormalities in the mother regardless of whether the fetus has or does not have PKU. © Wiley‐Liss, Inc.
New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems
Authors: Siegler Richard L. , Brewer Eileen D. , Carey John C. 
Published: June 2005

AbstractA previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end‐stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal. © Wiley‐Liss, Inc.
Biochemical characterization of a pedigree with mitochondrially inherited deafness
Authors: Prezant Toni Rita , Shohat Mordechai , Jaber Lutfi , Pressman Sheila , Fischel‐Ghodsian Nathan 
Published: June 2005

AbstractA large kindred with a predicted 2‐locus inheritance of sensorineural deafness, caused by the combination of a mitochondrial and an autosomal recessive mutation, was examined at the biochemical level. Because of the mitochondrial inheritance of this disease, we looked for defects in the oxidative phosphory‐lation Complexes I, III, IV, and V, the 4 enzymes that include all of the 13 mitochondrially encoded polypeptides. Biosynthetic labelling of lymphoblastoid cells from deaf patients, unaffected siblings, and an unrelated control showed no difference in size, abundance, rate of synthesis, or chlo‐ramphenicol‐sensitivity of the mitochondrially encoded subunits. Since overall mitochondrial protein synthesis appears normal, these results suggest that the mitochondrial mutation is unlikely to be in a tRNA or rRNA gene. No change in enzymatic levels was seen in lymphoblastoid mitochondria of the deaf patients, compared to unaffected sibs and controls, for Complexes I and IV. Both affected and unaffected family members showed an increase in Complex III activity compared to controls, which may reflect the mitochondrial DNA shared by maternal relatives, or be due to other genetic differences. Complex V activity was increased in deaf individuals compared to their unaffected sibs. Since the family members share the presumptive mitochondrial mutation, differences between deaf and unaffected individuals likely reflect the nuclear background and suggest that the autosomal recessive mutation may be related to the increase in Complex V activity. These biochemical studies provide a guide for sequence analysis of the patients' mitochondrial DNA and for linkage studies in this kindred. © Wiley‐Liss, Inc.
Update on a family with hand–foot–genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation
Authors: Donnenfeld Alan E. , Schrager Deborah S. , Corson Stephen L. 
Published: June 2005

AbstractWe describe a fourth generation of involvement with hand–foot–genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.
Familial syndrome of endocrine and neuroectodermal abnormalities
Authors: Oerter Karen E. , Friedman Theodore C. , Anderson Hans C. , Cassorla Fernando G. 
Published: June 2005

AbstractWe report on a previously undescribed combination of endocrine and neuroectodermal abnormalities in four sibs from Burma. These abnormalities include low growth hormone levels in response to provocative stimuli, delayed puberty associated with prepubertal levels of gonadotropins in the males and pubertal levels of gonadotropins in the females, type II diabetes mellitus with elevated insulin levels, mild mental retardation, sensori‐neural deafness, and alopecia without pili torti. They also had a characteristic facial appearance and fleshy hands and feet. This family appears to have a previously undescribed combination of endocrine and neuroectodermal abnormalities. © Wiley‐Liss, Inc.
Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells
Authors: Bembi Bruno , Comelli Marina , Scaggiante Bruna , Pineschi Alberto , Rapelli Silvana , Gornati Rosalba , Montorfano Gigliola , Berra Bruno , Agosti Eriberto , Romeo Domenico 
Published: June 2005

AbstractFive young patients with Niemann‐Pick disease type B were treated with repeated implantations of amniotic epithelial cells, as a source of exogenous sphingomyelinase. This treatment abolished the recurrent infections, mainly of the respiratory tract, and led to other improvements of the general conditions of the patients. In particular, we noticed a disappearance of vomiting, a recovery from muscular hypotrophy, and significantly reduced pulmonary distress. In four subjects, who were in a prepuberal state, there was a puberal spurt with a concomitant burst of growth. In two cases, characterized by a greater than normal content of sphingomyelin in urinary sediments, a single implantation caused a sustained normalization of sphingomyelin and total phospholipids in the urine. Finally, sphingomyelinase activity of peripheral leukocytes, when assayed 0.5 to 4 months after some of the implantations, showed a rise to heterozygous values in 30–40% of the assays. © Wiley‐Liss, Inc.
Interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3)
Authors: Mattia Frank R. , Wardinsky Terrance D. , Tuttle Deborah J. , Grix Arthur , Smith Kathleen A. , Walling Paula 
Published: June 2005

AbstractA male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.© 1992 Wiley‐Liss, Inc.
Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus
Authors: de Sierra Teresa M. , Ashmead Graham , Bilenker Robert 
Published: June 2005

AbstractWe present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity. © 1992 Wiley‐Liss, Inc.