bluuebunny/crossref_metadata_2025_split huggingface dataset:
Acute pancreatitis during sickle cell vaso‐occlusive painful crisis
Authors: Ahmed Shahid , Siddiqui Anita K. , Siddiqui Rina K. , Kimpo Miriam , Russo Linda , Mattana Joseph 
Published: June 2003

AbstractSickle cell disease is characterized by chronic hemolytic anemia and vaso‐occlusive painful crisis. The vascular occlusion in sickle cell disease is a complex process and accounts for the majority of the clinical manifestations of the disease. Abdominal pain is an important component of vaso‐occlusive painful crisis and may mimic diseases such as acute appendicitis and cholecystitis. Acute pancreatitis is rarely included as a cause of abdominal pain in patients with sickle cell disease. When it occurs it may result form biliary obstruction, but in other instances it might be a consequence of microvessel occlusion causing ischemia. In this series we describe four cases of acute pancreatitis in patients with sickle cell disease apparently due to microvascular occlusion and ischemic injury to the pancreas. All patients responded to conservative management. Acute pancreatitis should be considered in the differential diagnosis of abdominal pain in patients with sickle cell disease. Am. J. Hematol. 73:190–193, 2003. © 2003 Wiley‐Liss, Inc.
Iron chelators for the treatment of iron overload disease: Relationship between structure, redox activity, and toxicity
Authors: Chaston Timothy B. , Richardson Des R. 
Published: June 2003

AbstractThe success of the iron (Fe) chelator desferrioxamine (DFO) in the treatment of β‐thalassemia is limited by its lack of bioavailability. The design and characterization of synthetic alternatives to DFO has attracted much scientific interest and has led to the discovery of orally active chelators that can remove pathological Fe deposits. However, chelators that access intracellular Fe pools can be toxic by either inhibiting Fe‐containing enzymes or promoting Fe‐mediated free radical damage. Interestingly, toxicity does not necessarily correlate with Fe‐binding affinity or with chelation efficacy, suggesting that other factors may promote the cytopathic effects of chelators. In this review, we discuss the interactions of chelators and their Fe complexes with biomolecules that can lead to toxicity and tissue damage. Am. J. Hematol. 73:200–210, 2003. © 2003 Wiley‐Liss, Inc.
Developing human erythroid cells grown in transferrin‐free medium utilize iron originating from extracellular ferritin
Authors: Leimberg J.M. , Konijn A.M. , Fibach E. 
Published: June 2003

AbstractIn addition to transferrin, ferritin can also function as a source of iron for heme synthesis (Gelvin D, et al. Blood 1996;88:3200–3207; Meyron‐Holtz EG, et al. Blood 1999;94:3205–3211). In the present study we investigate the effect of external ferritin on the proliferation and hemoglobinization of human erythroid precursors grown in transferrin‐free cultures. Am. J. Hematol. 73:211–212, 2003. © 2003 Wiley‐Liss, Inc.
Spectrum of β thalassemia mutations and HbF levels in the heterozygous Moroccan population
Authors: Lemsaddek Wafaa , Picanço Isabel , Seuanes Filomena , Mahmal Lahoucine , Benchekroun Saâd , Khattab Mohammed , Nogueira Paulo , Osório‐Almeida Leonor 
Published: June 2003

AbstractA comprehensive hematological and molecular analysis of 57 β thalassemic heterozygotes, 28 homozygotes, 18 double heterozygotes, 3 compound heterozygotes β thal/β S and one compound heterozygote β thal/Hb Newcastle, in 46 Moroccan families with at least one β thalassemia patient is reported. Six major mutations: β039 (C→T), β0FsCD8(−AA), β+IVS1,nt6 (T→C) and β0IVS1,nt1 (G→A), β0FsCD6 (−A) and β+‐29 (A→G) cap site account for 75% of the 86 independent β thal chromosomes studied. For the first time, an extensive mutation/haplotype study has been performed on the Moroccan population, and data are consistent with the geographical location of the country and historical links with both the Mediterranean and the Sub‐Saharan Africa communities. Despite the heterogeneous spectrum of mutations, good genetic counseling can be offered to the carrier population. This study focuses on the analysis of fetal hemoglobin levels in β thalassemic heterozygotes and its correlation with β globin cluster polymorphic markers in this population. Fetal hemoglobin levels in heterozygotes vary from trace quantities to 17.9% (2.38 g/dl) of total hemoglobin in the adult. No statistically significant correlation was found, either between genders and HbF levels, or between the mutation and the HbF level, with the exception of mutation β0FSCD6(−A). We have examined the α globin genotype and the β globin genotype of heterozygotes, namely, the extended haplotype, which includes the XmnI site at −158 bp of the Gγ gene and the microsatellite (AT)xTy at −540 bp of the β globin gene. In this sample, we confirm the existence of linkage disequilibrium between the C→T variation at −158bp of Gγ globin gene (XmnI+) and Orkin's haplotypes III, IV, or IX (the 5′ subhaplotype class A). At 5′ β globin gene, we observe exclusively the allele (AT)7T7. In the β thalassemic heterozygotes studied, no correlation of those genetic markers with HbF levels is observed. Am. J. Hematol. 73:161–168, 2003. © 2003 Wiley‐Liss, Inc.
Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation
Authors: Piram Adriana , Ortolan Daniela , Cesar Peres Luis , Monteiro Pina‐Neto João , Riegel Mariluce , Schinzel Albert 
Published: June 2003

AbstractWe report a patient with duplication of 9pter‐q22 combined with duplication of 16q22‐qter. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation (46,XX,t[9;16;21]). This newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto‐occipital region, and rocker‐bottom feet. We compare the clinical features with another previously described case of duplication of an identical 9p segment combined with distal 16q duplication of a similar, but not identical segment, as well as with cases with duplication of either one of the two segments. © 2003 Wiley‐Liss, Inc.
X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
Authors: De Falco Francesca , Cainarca Silvia , Andolfi Grazia , Ferrentino Rosa , Berti Caterina , Rodríguez Criado German , Rittinger Olaf , Dennis Nick , Odent Sylvie , Rastogi Amit , Liebelt Jan , Chitayat David , Winter Robin , Jawanda Harindar , Ballabio Andrea , Franco Brunella , Meroni Germana 
Published: June 2003

AbstractOpitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X‐linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING‐Bbox‐Coiled‐coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X‐linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3′ region. By reviewing all the MID1‐mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo‐tracheo‐esophageal (LTE) defects are also common anomalies, being manifested by all MID1‐mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1‐mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype. © 2003 Wiley‐Liss, Inc.
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
Authors: Hyland Valentine J. , Robertson Stephen P. , Flanagan Simon , Savarirayan Ravi , Roscioli Tony , Masel John , Hayes Mark , Glass Ian A. 
Published: June 2003

AbstractIn this communication, we report the identification of a mosaic R248C missense mutation in the IgII–III linker region of the gene encoding the fibroblast growth factor receptor‐3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. By means of Denaturing High Performance Liquid Chromatography (DHPLC), we determined that 25% of her lymphocytes are heterozygous for this particular missense mutation in FGFR3, and that 12.5% of her lymphocyte‐derived genomic DNA encodes a cysteine residue at this position. The proposita has disproportionate short stature, radial head dislocation, coxa vara, and bowing of some of the long bones, associated with an S‐shaped deformity of the humerus, accompanied by widespread acanthosis nigricans in the integument. These features do not match any previously described skeletal dysplasia. Further, the proposita's only pregnancy ended in the delivery of a fetus manifesting a lethal short‐limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI). © 2003 Wiley‐Liss, Inc.
Screening of families with autosomal recessive non‐syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
Authors: Maheshwari Manjula , Vijaya R. , Ghosh Manju , Shastri Shivaram , Kabra Madhulika , Menon P.S.N. 
Published: June 2003

AbstractSeveral studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non‐syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. In the present study, we analyzed 45 Indian families belonging to three different states, namely, Karnataka, Tamil Nadu, and Delhi with non‐syndromic hearing impairment and an apparently autosomal recessive mode of inheritance. All the families were initially screened for three mutations (W24X, W77X, and Q124X) by using allele‐specific PCR primers; mutations were confirmed by DNA sequencing. Families that were heterozygous or negative for tested mutations of the GJB2 gene were sequenced directly to identify the complementary mutation and other mutations in GJB2. Four families were homozygous for W24X, constituting around 8.8%. In two families, the affected individuals were compound heterozygotes for W24X; one family (DKB16) carried 35delG with W24X while the other family (DKB7) carried R143W with W24X. We suggest that W24X is a common allele among the mutations screened, causing autosomal recessive non‐syndromic hearing impairment (ARNSHI) in the Indian population. © 2003 Wiley‐Liss, Inc.
Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother
Authors: Petković Iskra , Barišić Ingeborg , Bastić Mislav , Hećimović Silva , Bago Ružica 
Published: June 2003

AbstractWe present a case of trisomy for the whole short arm of chromosome 6 in a 3‐year‐old girl with moderate mental retardation, mild facial dysmorphism, short stature, failure to thrive, and no abnormalities of the visceral organs. Cytogenetic and fluorescence in situ hybridization (FISH) analysis revealed a 46, X, der(X)t(X;6)(q22; p11.1) karyotype. The derived X was late replicating with variable spreading of X chromosome inactivation onto the translocated 6p. A normal karyotype was observed in the father, while the mother presented 46,XX/46,XX, der(10)t(6;10)(p11;p11). The mother is a mosaic with unbalanced t(6;10) in 4.7% of cells. To the best of our knowledge, this unusual mosaicism has not yet been reported. In this family the short arm of chromosome 6 was involved in an unbalanced rearrangement with chromosome X in the proband and with chromosome 10 in the mother. In order to study the mechanism of the formation of t(X;6) in the girl we performed DNA polymorphism analysis. These investigations revealed that chromosomes X and 6 involved in the rearrangement are of paternal origin. Our patient exhibits only discrete facial features characteristic of partial trisomy 6p. We suggest that mild phenotypic expression be probably due to X chromosome inactivation spreading onto the translocated 6p. This report show that combined cytogenetic, FISH, and molecular analysis of chromosomal aberrations are necessary for the understanding of the mechanism of formation, parental origin, and genetic counseling. © 2003 Wiley‐Liss, Inc.
De novo 1q32q44 duplication and distal 1q trisomy syndrome
Authors: Nowaczyk Małgorzata J.M. , Bayani Jane , Freeman Viola , Watts John , Squire Jeremy , Xu Jie 
Published: June 2003

AbstractWe report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward‐slanting palpebral fissures, a high‐arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the “distal 1q trisomy” phenotype. © 2003 Wiley‐Liss, Inc.
Parental attitudes regarding newborn screening of PKU and DMD
Authors: Campbell Elizabeth , Ross Lainie Friedman 
Published: June 2003

AbstractThe ability to perform predictive genetic testing of children raises ethical concerns. Current guidelines support the screening of newborns for conditions in which early treatment reduces morbidity and mortality, and oppose most other predictive genetic screening and testing in childhood. Little is known, however, about parental attitudes. We conducted focus groups to gain information on the attitudes, beliefs, and concerns of parents about newborn screening and testing for both treatable and untreatable conditions that present in childhood. Respondents across racial groups support mandatory newborn screening for treatable conditions like phenylketonuria (PKU), citing lack of parental knowledge, and concerns about immature parental decision‐makers. Parents do, however, want more information. Citing a variety of psychosocial concerns, respondents believe that parents should have access to predictive genetic testing for childhood onset conditions, even when there are no proven treatments. Respondents want this information to make reproductive and non‐reproductive plans and decisions. Although respondents varied in their personal interest in testing, overwhelmingly they believed that the decisions belong to the parents. Professional guidelines that proscribe predictive testing for untreatable childhood onset conditions should be re‐examined in light of consumer attitudes. © 2003 Wiley‐Liss, Inc.
Reticular erythrokeratoderma: A new disorder of cornification
Authors: Itin Peter H. , Moschopulos Michael , Richard Gabriela 
Published: June 2003

AbstractHeritable disorders of cornification form a large, clinically and genetically heterogeneous group. Recent advances in molecular genetics provide for the first time the opportunity to reliably classify some of these disorders based on their underlying etiology. Many rare phenotypes, however, still remain unclassified and do not fit into established classification schemes. We report here a 12‐year‐old girl who developed an ichthyosis vulgaris‐like skin disorder 6 months after birth. Several years later, the clinical features had changed considerably. The patient had developed streaks of hyperkeratotic, slightly scaling skin with underlying erythema distributed in a reticulate, occasionally annular pattern on the trunk and extremities. The lesions were stable and had not changed significantly in size or distribution over the ensuing years. Histopathologic and ultrastructural findings were nonspecific and there was no evidence for metabolic disorders. The partial clinical overlap with erythrokeratodermia variabilis prompted us to screen several connexin genes but no pathogenic mutations were identified. We believe that this disorder belongs to the group of erythrokeratodermas and represents a novel, previously unrecognized entity. © 2003 Wiley‐Liss, Inc.
Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature
Authors: Reutter Heiko , Shapiro Ellen , Gruen Jeffrey R. 
Published: June 2003

AbstractClustering of the bladder exstrophy and epispadias complex (BEEC) has been described in 29 families. To explore the genetic contribution we located new families through the German and Austrian Bladder Exstrophy Support Group and the Association for the Bladder Exstrophy Community (predominantly US and Canada). We report six new families with two occurrences of BEEC, one family where the proband is the product of a consanguineous union, and four discordant twin pairs. In conjunction with the published clinical and epidemiological reports this collection suggests that there is a significant genetic predisposition for susceptibility to the BEEC. It also highlights the importance of self‐referral groups for recruiting families for multicenter collaborative research efforts to identify susceptibility loci. © 2003 Wiley‐Liss, Inc.
A new dominant branchiogenic‐deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
Authors: Mégarbané André , Rassi Simon , Chouery Eliane , Delague Valérie , Leal Gustavo Perez de Nanclares , Tabet Murielle , Castaño Luis , Loiselet Jacques 
Published: June 2003

AbstractTwo sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature, and learning disability and patchy skin depigmentation in one. Temporal bone abnormalities identified on computed tomography included atresia of the external auditory canal with reduction in size of the middle ear, malformed ossicles, and unilateral internal auditory canal hypoplasia. Hand radiographs showed pointed phalanges of the 5th fingers with osseous erosions. Their father, his sister, and his half‐brother had unilateral auricular pits and/or branchial cysts. Results of all laboratory investigations including sequencing of the EYA1 gene were normal. Differential diagnosis is discussed and the possibility of the report of a new autosomal dominant type of branchiogenic‐deafness syndrome with variable expressivity is raised. © 2003 Wiley‐Liss, Inc.
Athabascan brainstem dysgenesis syndrome
Authors: Holve Steve , Friedman Barbara , Hoyme H. Eugene , Tarby Theodore J. , Johnstone Sharon J. , Erickson Robert P. , Clericuzio Carol L. , Cunniff Christopher 
Published: June 2003

AbstractWe report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of Apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley‐Liss, Inc.
Relation between apolipoprotein E genotype, hepatitis b virus status, and thyroid status in a sample of older persons with down syndrome
Authors: Percy Maire E. , Potyomkina Zoya , Dalton Arthur J. , Fedor Bettye , Mehta Pankaj , Andrews David F. , Mazzulli Tony , Murk Lillian , Warren Andrew C. , Wallace Robyn A. , Chau Hien , Jeng Winnie , Moalem Sharon , O'Brien Lisa , Schellenberger Sonia , Tran Helen , Wu Linda 
Published: June 2003

AbstractDementia of the Alzheimer type (DAT) is common in older persons with Down syndrome (DS). There are three common alleles of the apolipoprotein E (ApoE) gene (Σ2, Σ3, and Σ4) resulting in three different isoforms (E2, E3, and E4) and six different genotypes (2,2; 2,3; 2,4; 3,3; 3,4; and 4,4). Σ4 is a risk factor for DAT whereas Σ2 appears prophylactic. As hepatitis B virus (HBV) infection and hypothyroidism also are common in DS, we evaluated associations between ApoE type, HBV status, and thyroid status in a sample of older persons with DS (n = 55; mean age, 44.3 ± 10.8 years) using chi‐squared analysis. Participants were classified as E2 (2,2 or 2,3), E3 (3,3), or E4 (3,4 or 4,4); positive for markers of HBV infection in the present or past (i.e., total HBcAb+ and/or HBsAg+ with or without infectivity, defined as HBV+) or negative for markers of HBV infection (defined as HBV−) and, currently receiving thyroid hormone supplement (defined as “hypothyroidism”) or having normal thyroid function. The majority of the HBV+ were currently HBcAb+ and HBsAb+, but not HBsAg+. In females, there was an ApoE allele effect on thyroid status (P ≤ 0.01), E2 being negatively (P ≤ 0.01) and E4 being positively (P ≤ 0.05) associated with “hypothyroidism”. There was no evidence for an ApoE allele effect on thyroid status in males. There was no evidence for an ApoE allele effect on HBV status, or for an HBV status effect on thyroid status. As thyroid status can affect cognitive function, ApoE allele effects in DAT may, in part, be thyroid effects. © 2003 Wiley‐Liss, Inc.
Multiple macrodontic multituberculism
Authors: Benjamin Martinez R. , Rodrigo Fariña S. , Gorlin Robert J. 
Published: June 2003

AbstractEkman‐Westborg and Julin [1974: Oral Surg 38:217–222], described multiple macrodontia and multituberculism affecting the teeth without other anomalies (E‐WJ). We describe a Chilean case in a 12‐year‐old with the typical dental alterations and with histopathologic findings that include absence of predentin layer and prominent reduced enamel epithelium. E‐WJ is not a syndrome and we propose “multiple macrodontic multituberculism” as a better name for this anomaly of uncertain etiology affecting only the crowns of the teeth. © 2003 Wiley‐Liss, Inc.