bluuebunny/crossref_metadata_2025_split huggingface dataset:
Silent brain infarcts in adult Kuwaiti sickle cell disease patients
Authors: Marouf R. , Gupta R. , Haider M.Z. , Adekile A.D. 
Published: July 2003

AbstractAlthough overt stroke is a common complication of sickle cell disease (SCD), its incidence is very low in Kuwaiti patients. On the other hand, the prevalence of silent brain infarcts, which is reported to be about 17–20% in American patients, has not been documented in adult Kuwaiti patients. This is a 1‐year study of consecutive, asymptomatic SCD patients seen in the hematology clinic of Mubarak Al‐Kabeer Hospital. Patients with a past history of seizure or any other neurological abnormality were excluded. The patients' charts were reviewed for frequency of hospitalizations, any documented complications, and steady‐state CBC. MRI was done with a 1.5‐Tesla unit with super‐conducting magnet. T1‐ and T2‐weighted sagittal and axial sections and proton‐density axial images were obtained in 5‐mm‐thick sections. Thirty‐five patients were studied, made up of 25 SS and 10 Sβ0Thal, aged between 17 and 44 years, with a mean age of 26.9 ± 9.3 years. MRI findings consistent with infarcts were found in 7 (20.0%) patients—6 SS and 1 Sβ0thal—with a mean age of 31.8 ± 8.2 years, which was significantly higher (P < 0.05) than the mean age of the unaffected group (25.1 – 9.0 years). There were also no differences in the mean Hb, Hb F, or any other hematological parameter in the two groups. Among the affected 6 SS, 2 had co‐existent α‐thal trait. It is interesting that, while silent infarcts are prevalent in young American patients, it is in the older age group that they occur in Kuwaiti patients. Further studies are needed to investigate the factors modulating this heterogeneity. Am. J. Hematol. 73:240–243, 2003. © 2003 Wiley‐Liss, Inc.
Compound heterozygosity for two novel mutations in a severe factor XI deficiency
Authors: Tsukahara Akiko , Yamada Takayuki , Takagi Akira , Murate Takashi , Matsushita Tadashi , Saito Hidehiko , Kojima Tetsuhito 
Published: July 2003

AbstractWe identified two novel mutations in an asymptomatic 25‐year‐old Japanese patient with severe factor XI deficiency. Direct sequencing analysis of PCR products from his factor XI gene revealed a G to T transversion in exon 12, resulting in the nonsense mutation (Glu447Stop) and a G insertion in five consecutive guanine nucleotides (501Trp(TGG)–502Gly(GGG)) in exon 13 that is expected to lead to the substitution of the last 105 amino acids (503Tyr–607Val) with 32 abnormal amino acid residues (503Val–534Thr) followed by stop codon. We also demonstrated that two mutations are associated with the separate alleles in this patient, indicating compound heterozygosity for these mutations. Both mutations lead to the disruption of the catalytic domain structure of the FXI molecule and thus are responsible for his deficiency of factor XI. Am. J. Hematol. 73:279–284, 2003. © 2003 Wiley‐Liss, Inc.
Prognostic significance of the F‐box protein Skp2 expression in diffuse large B‐cell lymphoma
Authors: Seki Ritsuko , Okamura Takashi , Koga Hironori , Yakushiji Kazuaki , Hashiguchi Michitoshi , Yoshimoto Kohji , Ogata Hideaki , Imamura Rie , Nakashima Yutaka , Kage Masayoshi , Ueno Takato , Sata Michio 
Published: July 2003

AbstractThe F‐box protein Skp2 positively regulates the G1‐S transition by promoting degradation of the cyclin‐dependent kinase inhibitor p27kip1 (p27). Recent evidence has suggested an oncogenic role of Skp2 in not only carcinogenesis but also lymphomagenesis. In this study, we performed immunohistochemical analysis on the cell‐cycle‐associated proteins, Skp2, p27, and Ki‐67, in 27 patients with de novo diffuse large B‐cell lymphoma (DLBCL), evaluating the correlation between the clinical characteristics and expression levels of these proteins. The patients were classified into two groups according to the positivity for Skp2 expression: a high Skp2 expression group (>60% positive for Skp2 in lymphoma cells) and a low Skp2 expression group (⪋%). A high level of Skp2 expression significantly correlated with advanced clinical stage (P = 0.029), although the increase did not correlate with age, gender, LDH levels, presence of extranodal disease, or performance status and resulted in no correlation with the International Prognostic Index‐based risk grading. However, it was noteworthy that the high Skp2 expression group demonstrated a significantly worse prognosis than the low Skp2 expression group (P = 0.0007). The expression level of Skp2 correlated with that of Ki‐67 but not necessarily with that of p27. The p27 expression level did not correlate patients' prognosis. Taken together, it was suggested that Skp2 was a valuable and independent marker predicting the outcome in DLBCL. Am. J. Hematol. 73:230–235, 2003. © 2003 Wiley‐Liss, Inc.
Feasibility and toxicity of high‐dose therapy (HDT) supported by peripheral blood stem cells in elderly patients with multiple myeloma and non‐Hodgkin's lymphoma: Survey from a single institution
Authors: Magagnoli Massimo , Castagna Luca , Balzarotti Monica , Sarina Barbara , Timofeeva Inna , Bertuzzi Alexia , Compasso Silvana , Nozza Andrea , Siracusano Licia , Santoro Armando 
Published: July 2003

AbstractThe aim of this retrospective study was to investigate the feasibility of high‐dose therapy (HDT) followed by peripheral blood stem cell transplantation (PBSCT) in elderly patients with hematological malignancies. From April 1998 to November 2001, 40 elderly patients (defined as ≥60 years) with non‐Hodgkin's lymphoma (12 patients) and multiple myeloma (28 patients) were evaluated. Seven lymphoma and one myeloma patients were in complete remission (CR), 27 in partial remission (PR), two had stable disease (SD), and three progressive disease (PD). The median age was 65 years (range 60–71). Thirty‐nine patients were mobilized with chemotherapy plus granulocyte‐colony stimulating factor (G‐CSF) and one with G‐CSF alone. Patients received HDT including melphalan alone in 32 cases or combined with other drugs in six and BEAM in two. The median number of collected CD34+ cells was 12.4 × 106/kg (range 2.0–68.9). The median number of re‐infused CD34+ cells was 9.9 × 106/kg (range 2.0–68.9). All patients engrafted after PBSC and the median time to neutrophil recovery (N > 500/μl) and platelet recovery (PLT > 20,000/μl) was 8 days (range 5–18) and 6 days (range 5–18), respectively. Nonhematological toxicity was mild and no patient died from transplant‐related toxicity (TRM). Median duration of hospitalization was 18 days (range 12–24). To date, 32 patients are alive and eight died from disease progression at a median follow‐up interval of 24 months. HDT supported by PBSC is a feasible procedure in selected elderly patients, and an age of more than 60 years should not be considered a contraindication for HDT. Am. J. Hematol. 73:267–272, 2003. © 2003 Wiley‐Liss, Inc.
Conjoined twins: Morphogenesis of the heart and a review
Authors: Gilbert‐Barness Enid , Debich‐Spicer Diane , Opitz John M. 
Published: July 2003

AbstractFive cases of conjoined twins have been studied. These included three thoracopagus twins, one monocephalus diprosopus (prosop = face), and one dicephalus dipus dibrachus. The thoracopagus twins were conjoined only from the upper thorax to the umbilicus with a normal foregut. These three cases shared a single complex multiventricular heart, one with a four chambered heart with one atrium and one ventricle belonging to each twin with complex venous and arterial connection; two had a seven chambered heart with four atria and three ventricles. The mono‐cephalus diprosopus twins had a single heart with tetralogy of Fallot. The dicephalus twins had two separate axial skeletons to the sacrum, two separate hearts were connected between the right atria with a shared inferior vena cava. Thoracopagus twinning is associated with complex cardiac malformations. The cardiac anlagen in cephalopagus or diprosopus are diverted and divided along with the entire rostral end of the embryonic disc and result in two relatively normal shared hearts. However, in thoracopagus twins the single heart is multiventricular and suggests very early union with fusion of the cardiac anlagen before significant differentiation. Cardiac morphogenesis in conjoined twins therefore appears to depend on the site of the conjoined fusion and the temporal and spatial influence that determines morphogenesis as well as abnormally oriented embryonic axes. © 2003 Wiley‐Liss, Inc.
Splenogonadal fusion‐limb defect “syndrome” and associated malformations
Authors: McPherson Fiona , Frias Jaime L. , Spicer Diane , Opitz John M. , Gilbert‐Barness Enid F. 
Published: July 2003

AbstractTwo types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral‐facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF. © 2003 Wiley‐Liss, Inc.
Familial multiple epiphyseal dysplasia due to a matrilin‐3 mutation: Further delineation of the phenotype including 40 years follow‐up
Authors: Mostert A.K. , Dijkstra P.F. , Jansen B.R.H. , van Horn J.R. , de Graaf B. , Heutink P. , Lindhout D. 
Published: July 2003

AbstractIn this study, we followed‐up the family with bilateral hereditary micro‐epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41‐B:514–523]. Clinical re‐examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin‐3 (MATN‐3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED‐like disorders. © 2003 Wiley‐Liss, Inc.
Severely delayed epiphyseal ossification dysplasia with normal stature
Authors: Baumann Clarisse , Garel Catherine , Vuillemain Lucille , Hassan Max , Verloes Alain 
Published: July 2003

AbstractWe report on a pair of dizygotic twins born to consanguineous parents, showing an extreme delay in skeletal maturation (roughly corresponding to the time of birth at the age of 4 10/12 years), mild metaphyseal irregularities, and normal to large stature (+ 1 to + 2 SD) with normal growth pattern, long fingers, generalized small joint hyperlaxity with flat feet, genua valga, and low normal intellectual development. This disorder was not associated with abnormal endocrine function or abnormal Ca/P metabolism. This epiphyseal disorder is compatible with autosomal recessive inheritance.© 2003 Wiley‐Liss, Inc.
Characterization of terminal chromosome anomalies using multisubtelomere FISH
Authors: Davies Angela F. , Kirby Toby L. , Docherty Zoe , Mackie Ogilvie Caroline 
Published: July 2003

AbstractTelomeric repeat sequences (TTAGGG) are known to cap the termini of every human chromosome. Proximal to these repeat sequences are chromosome‐specific repeat sequences, which in turn are distal to gene‐rich regions. Submicroscopic, subtle, or cryptic abnormalities in these regions can now be investigated using commercial probe sets for all of the chromosome‐specific subtelomeric regions of the human genome. Using this technology, previously unidentified genomic imbalance has been found in a proportion of patients with idiopathic developmental delay and learning difficulties. We have used these probe sets to investigate cases with apparently terminal anomalies detected on G‐banded chromosome analysis. As a result of such investigations, we have found that 3 (19%) of 16 apparently terminal deletion cases were the result of more complex rearrangements involving other chromosome subtelomeres. The remaining 13 cases contained no chromosome‐specific subtelomere repeats on the deleted arm, but in all 16 cases, the TTAGGG telomere repeat cap was present. A further case was investigated where extra material was found in the terminal region of the chromosome 12 short arm, found to represent a complex inversion/duplication/deletion rearrangement. Investigation of all cases with terminal anomalies, including apparently terminal deletions, is likely to uncover further cases involving complex rearrangements and should lead to a greater understanding of the mechanisms by which these abnormalities arise. © 2003 Wiley‐Liss, Inc.
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review
Authors: Schweiger Susann , Chaoui Rabih , Tennstedt Cornelia , Lehmann Katarina , Mundlos Stefan , Tinschert Sigrid 
Published: July 2003

AbstractWe report on a fetus of 27 weeks of gestation whose clinical, radiological, and histopathological findings are compatible with the prenatal form of Caffey disease (cortical hyperostosis). Prenatal ultrasound examination showed polyhydramnios and markedly short and angulated long bones, which had led to the incorrect diagnosis of lethal osteogenesis imperfecta. We found 43 published descriptions on the antenatal onset of cortical hyperostosis symptomatic in utero or at birth. Two groups of prenatal cortical hyperostosis (PCH) can be distinguished: (1) severe (25 reports and the fetus presented here), with onset before 35 weeks of gestation and generally associated with polyhydramnios, lung disease, prematurity, and high lethality; (2) mild (18 reports), with onset after 35 weeks of gestation and without complications. Autosomal recessive inheritance has been suggested for the prenatal form of cortical hyperostosis. However, the available evidence suggests that both dominant and recessive inheritance is possible. Moreover, dominant inheritance seems to be more common in the mild prenatal form of cortical hyperostosis. © 2003 Wiley‐Liss, Inc.
Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patients
Authors: Pipitone Salvatore , Garofalo Caterina , Corsello Giovanni , Mongiovì Maurizio , Piccione Maria , Maresi Emiliano , Sperandeo Velio 
Published: July 2003

AbstractCongenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico‐portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally‐related to the chromosomal aberration. In addition, the umbilico‐portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21‐related altered angiogenesis of the vitelloumbilical plexus. © 2003 Wiley‐Liss, Inc.
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]
Authors: Sauter S. , von Beust G. , Burfeind P. , Weise A. , Starke H. , Liehr T. , Zoll B. 
Published: July 2003

AbstractWe report on a 3‐year‐old boy with a moderate to severe mental retardation, autistic behavior patterns, and myoclonic epilepsy of early childhood. The cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 20pter → p12.2 occurring as mosaicism in 8% of the analyzed metaphases: 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]. The deletion was confirmed by the recently developed multicolor banding approach and additionally by region specific fluorescence in situ hybridization (FISH) probes. To the best of our knowledge, this is the first report on a patient with autistic behavior with terminal 20p deletion mosaicism reported up to present. © 2003 Wiley‐Liss, Inc.
Developmental anomalies of the scapula—the “omo”st forgotten bone
Authors: Williams Marc S. 
Published: July 2003

AbstractCongenital malformations of the scapula, ranging from complete absence, to abnormal shape and position (Sprengel anomaly) are encountered, not infrequently, in genetic practice. Despite this, little is known of the embryologic origin of the scapula and the relationship of the embryology to the observed birth defects. Standard embryology texts, when discussing the subject at all, generally consider the scapula as part of the upper limb. The pattern of associated birth defects suggests that this is at least an oversimplification and may be inaccurate. Sprengel anomaly is the most frequently encountered malformation of the scapula. It can be seen in isolation, but is often seen in association with other defects that include; scoliosis, hemivertebrae, segmentation abnormalities of vertebrae and ribs (including Klippel‐Feil sequence), spina bifida, clavicular abnormalities, renal abnormalities and hypoplasia of the muscles of the neck and shoulder. The ipsilateral limb is usually normal. An unappreciated association between Sprengel anomaly and diastematomyelia of the lumbar spine also raises questions about the embryologic origin of the scapula. 25–50% of Sprengel anomaly patients have an associated omovertebral band or bone that arises from the posterior process of a vertebral body and attaches to the superior angle/medial portion of the scapula. This is felt to be of scapular origin, but the report of at least one patient with an omovertebral bone, not associated with a Sprengel anomaly questions this assumption. Scapuloiliac dysostosis (Kosenow syndrome), a rare skeletal dysplasia, is associated with marked hypoplasia of the scapulae, clavicles and pelvis. Associated anomalies include eye anomalies, rib anomalies and spina bifida. The limbs are normal. Knockout of the Emx2 gene in mice yields a similar skeletal phenotype. Mutations in EMX2 in humans are associated with schizencephaly, not skeletal anomalies. Data on gene expression in the scapula will be reviewed. Based on this information, the author proposes that the scapula arises from 2 or more distinct embryologic anlage under different genetic control than the upper limb. © 2003 Wiley‐Liss, Inc.
Preempting genetic discrimination and assaults on privacy: Report of a symposium
Authors: Shinaman Aileen , Bain Lisa J. , Shoulson Ira 
Published: July 2003

AbstractAt a symposium in June, 2002, biomedical researchers, clinicians, legal experts, policymakers, and representatives of the insurance industry and the advocacy community gathered to address issues of genetic privacy and discrimination; and to identify research, legal, and policy gaps needing to be filled. They concluded that over the next decade, as more genetic information becomes available and the public becomes more aware of individual risks, concerns about privacy and discrimination will become increasingly important. Documented cases of genetic discrimination are rare and largely anecdotal, yet individuals with genetic conditions harbor significant fears about discrimination. Current laws enacted to protect individuals from workplace and insurance discrimination offer some measure of protection, but leave many unfilled gaps. Moreover, the use of genetic information in potentially discriminatory ways is not limited to employment and insurability. Existing laws do little to protect people seeking life, disability, or long‐term care insurance. And the courts have used genetic information in a wide variety of cases including paternity, criminal, and tort (personal injury) cases. Genetic information that might jeopardize an individual's right to privacy may also be obtained in the course of research studies, including through the collection of DNA and tissue samples. The insurance industry, State and Federal agencies, and the advocacy community are all making efforts to address some of these gaps through legislation and education of clinicians, the public, and policy makers. © 2003 Wiley‐Liss, Inc.
Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1
Authors: Shur Natasha , Cowan Janet , Wheeler Patricia G. 
Published: July 2003

AbstractWe report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15‐22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We review our patient's findings and compare them to previously reported individuals with similar 15q abnormalities. Our patient allows an expansion of phenotype associated with mid‐15q deletions to include severe craniosynostosis, congenital heart disease, and limb anomalies. This will assist in prenatal counseling and predicting postnatal outcome for other affected individuals. The specific breakpoints in our patient and the other patients with similar deletions may also assist in determining a critical region for suture formation. © 2003 Wiley‐Liss, Inc.
Toriello–Carey syndrome associated with respiratory failure and non‐mechanical ileus
Authors: Kataoka Tatsuki R. , Ito Akihiko , Nakabori Tasuku , Koma Yu‐ichiro , Nakai Hiroshi , Kamata Shinkichi , Kitamura Yukihiko 
Published: July 2003

AbstractToriello–Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects. We report a boy who has some additional findings, including a severe respiratory failure and intestinal dysmotility. The boy died of these two disorders at age 13 months. Histological examination revealed pulmonary immaturity and a defect of smooth muscle cells in the longitudinal muscle coat of the intestinal musculature, both of which might explain some aspects of the pathophysiology of the patient. © 2003 Wiley‐Liss, Inc.