bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment
Authors: Nagai T. , Obata K. , Tonoki H. , Temma S. , Murakami N. , Katada Y. , Yoshino A. , Sakazume S. , Takahashi E. , Sakuta R. , Niikawa N. 
Published: June 2005

AbstractPatients with Prader–Willi syndrome (PWS) are recognized to have a tendency of sudden, unexpected death (SED), but its exact cause is unknown because of paucity of such case reports. Since growth hormone (GH) treatment was applied to PWS patients worldwide, several cases of death have been reported. However, whether the therapy is directly related to their SED remains unknown, too. We collected 13 deceased PWS patients (Group A, aged 9 months to 34 years) who had never received GH therapy, and seven deceased patients (Group B, all boys aged 0.7–15 years) having received the therapy from the registration in PWS‐patient‐support associations and from the literature, respectively. We then compared the cause of SED between the two groups. Irrespective of GH therapy, SED of infants under age 1 year was associated with milk aspiration or hypothalamic dysregulation of respiration, while SED of patients in early childhood or adolescence occurred at sleeping in association with preceding viral infections. In contrast, SED of four adult (> 20 years of age) patients who never received GH therapy was associated with complications, such as leg cellulites and pulmonary embolism, secondary to massive obesity and diabetes mellitus (DM). Two Group‐B patients (aged 14 and 20 years) without any obesity‐related or diabetes‐related complications died of drowning in a bath tub, and their drowning death could be related to poor respiratory control. These findings indicated that the cause of SED is not essentially different between PWS patients with and without GH treatment. Deceased PWS patients may have had underlying respiratory dysregulation and hypothalamic dysfunction, and GH therapy might have led to certain obstructive respiratory disturbances that exacerbated the respiratory conditions. This will call clinicians' attention when using GH in PWS patients, for example, careful determination of the dose of GH and careful monitoring of patient's respiratory conditions, especially in male obese patients with respiratory problems. © 2005 Wiley‐Liss, Inc.
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Authors: Shimokawa Osamu , Miyake Noriko , Yoshimura Takazumi , Sosonkina Nadiya , Harada Naoki , Mizuguchi Takeshi , Kondoh Shinji , Kishino Tatsuya , Ohta Tohru , Remco Visser , Takashima Takeshi , Kinoshita Akira , Yoshiura Koichiro , Niikawa Norio , Matsumoto Naomichi 
Published: June 2005

AbstractA 36‐week‐old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, and was delivered by cesarean section to manage neonatal problems at 37 weeks of gestation. Emergent surgical repair of the left diaphragmatic hernia was performed, but severe hypoxia persisted, and he expired on the following day. Chromosome analysis of cultured amniotic fluid cells indicated 46,XY,del(8)(p23.1p23.1). This is the fourth case of 8p23.1 deletion associated with diaphragmatic hernia. Microarray comparative genomic hybridization analysis using DNA of cultured amniotic fluid cells showed that six clones were deleted, which were mapped to the region between two low copy repeats (LCRs) at 8p23.1 previously described. Microsatellite analysis revealed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. These data strongly suggested that the 8p23.1 interstitial deletion should have arisen through a different mechanism from that of inv dup del(8p) whose structural abnormality is always of maternal origin and accompanies heterozygous 8p23.1 polymorphic inversion in mother. © 2005 Wiley‐Liss, Inc.
Identification of an alternative 5′‐untranslated exon and new polymorphisms of angiotensin‐converting enzyme 2 gene: Lack of association with SARS in the Vietnamese population
Authors: Itoyama Satoru , Keicho Naoto , Hijikata Minako , Quy Tran , Phi Nguyen Chi , Long Hoang Thuy , Ha Le Dang , Ban Vo Van , Matsushita Ikumi , Yanai Hideki , Kirikae Fumiko , Kirikae Teruo , Kuratsuji Tadatoshi , Sasazuki Takehiko 
Published: June 2005

AbstractWe analyzed genetic variations of angiotensin‐converting enzyme 2 (ACE2), considering that it might influence patients' susceptibility to severe acute respiratory syndrome‐associated coronavirus (SARS‐CoV) or development of SARS as a functional receptor. By cloning of the full‐length cDNA of the ACE2 gene in the lung, where replication occurs on SARS‐CoV, it was shown that there are different splicing sites. All exons including the new alternative exon, exon‐intron boundaries, and the corresponding 5′‐flanking region of the gene were investigated and 19 single nucleotide polymorphisms (SNPs) were found. Out of these, 13 SNPs including one non‐synonymous substitution and three 3′‐UTR polymorphisms were newly identified. A case control study involving 44 SARS cases, 16 anti‐SARS‐CoV antibody‐positive contacts, 87 antibody‐negative contacts, and 50 non‐contacts in Vietnam, failed to obtain any evidence that the ACE2 gene polymorphisms are involved in the disease process in the population. Nevertheless, identification of new 5′‐untranslated exon and new SNPs is considered helpful in investigating regulation of ACE2 gene expression in the future. © 2005 Wiley‐Liss, Inc.
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil
Authors: Michelin Kristiane , Wajner Alessandro , de Souza Fernanda T.S. , de Mello Alexandre S. , Burin Maira G. , Pereira Maria Luiza S. , Pires Ricardo F. , Giugliani Roberto , Coelho Janice C. 
Published: June 2005

AbstractGaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosidase (β‐glucosidase) deficiency. Between January 1982 and October 2003, 1,081 blood samples from patients suspected of having GD were referred for biochemical analysis. The activities of the enzymes β‐glucosidase (β‐glu) and chitotriosidase (CT) were measured in these samples. Among the 412 diagnosed cases of GD (38.1%), the great majority were GD type 1. The Brazilian regions with the greatest concentration of these patients were the Southeast, South, and Northeast. The mean age of patients at diagnosis was 19 years. The activity of β‐glu in patients with GD was, on average, 10.7% of that of normal individuals. CT was, on average, 269 times more elevated in this group of patients. Among the 669 cases with no confirmation of GD, there were patients with Niemann–Pick disease types A, B, or C (44 cases), possible heterozygotes for GD (59 cases), patients with other lysosomal storage diseases (LSDs) (19 cases) or with other inborn errors of metabolism (3 cases). In 508 cases, no metabolic disorder was found. This study shows that the biochemical protocol employed was effective for the detection of GD, a disease that is reasonably frequent in Brazil. © 2005 Wiley‐Liss, Inc.
Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements
Authors: Naïmi Mourad , Tardieu Sandrine , Depienne Christel , Ruberg Merle , Brice Alexis , Dubourg Odile , LeGuern Eric 
Published: June 2005

AbstractLarge genomic duplications and deletions are increasingly recognized as a cause of human disease. Charcot‐Marie‐Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) result, respectively, from a duplication or deletion of a 1.5 Mb genomic region in 17p11.2‐12, containing the PMP22 gene. In routine diagnostic analysis, CMT1A status is inferred from the detection of an imbalanced dosage of two alleles or the presence of three alleles of a polymorphic marker flanking the PMP22 gene. HNPP is suspected if only one allele is seen, but hemizygosity must be confirmed by analyzing allele segregation in the family or by other techniques such as Southern blotting or fluorescence in situ hybridization (FISH). PCR‐based methodologies have also been developed that allow single‐step determination of the PMP22 gene copy number, wherein amplicons are typically labeled and/or separated by gel electrophoresis. We describe here a fast and reliable PCR‐based method for the diagnosis of CMT1A and HNPP in which the PMP22 gene is co‐amplified with a reference gene, and the amplicons are separated according to their size and quantified by DHPLC. Our results suggest that this method for quantifying gene dosage could be applied to other genomic rearrangements. © 2005 Wiley‐Liss, Inc.
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
Authors: Hidalgo‐Bravo Alberto , Pompa‐Mera Ericka N. , Kofman‐Alfaro Susana , Gonzalez‐Bonilla Cesar R. , Zenteno Juan Carlos 
Published: June 2005

AbstractOtopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X‐linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X‐linked skeletal dysplasias known as oto‐palato‐digital syndrome spectrum disorders that also include OPD2, Melnick–Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Recently, it has been demonstrated that mutations in the gene encoding the cytoskeletal protein Filamin A (FLNA) are responsible for this group of clinically overlapping human syndromes. We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin‐binding domain of the protein. X‐inactivation analyses demonstrated an extremely skewed pattern towards her maternal chromosome. Our results add to the molecular spectrum of the oto‐palato‐digital related syndromes and contribute to the delineation of phenotype‐genotype correlation in this group of X‐linked skeletal disorders. © 2005 Wiley‐Liss, Inc.
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1
Authors: Titomanlio Luigi , Pierri Nicola Brunetti , Romano Alfonso , Imperati Floriana , Borrelli Melissa , Barletta Valentina , Diano Alvaro Antonio , Castaldo Imma , Santoro Lucio , Del Giudice Ennio 
Published: June 2005

AbstractCerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non‐progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis. Because of the large preponderance of female patients, X‐linked dominant transmission was suggested by [Fenichel and Phillips (1989); Arch Neurol 46:582–583], and subsequent reports only concern female patients. Only one family with male‐to‐male transmission presenting with a generalized atrophy of the cerebellum rather than a more localized vermis aplasia has been reported so far. We report on a family in which father and son are affected by a mild form of ACV, thus confirming an autosomal mode of inheritance of the disease. Our patients showed a progressive improvement of their motor abilities, neurological examination of the father being actually normal except for a mild mental retardation. We also evaluated the potential role of two candidate genes, EN2 and ZIC1, responsible for abnormal cerebellar development in murine knock‐out models. However, molecular analysis failed to reveal any causative mutation in the coding sequence of the two genes in our patients. The understanding of the genetic basis of autosomal dominant ACV would allow a better classification of isolate cerebellar malformations and might permit to understand cell differentiation and migration in the developing central nervous system. © 2005 Wiley‐Liss, Inc.
Generalized arterial calcification of infancy: Different clinical courses in two affected siblings
Authors: Cheng Kun‐Shan , Chen Ming‐Ren , Ruf Nico , Lin Shuan‐Pei , Rutsch Frank 
Published: June 2005

AbstractGeneralized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1. Due to extensive calcification of the arterial media associated with intimal proliferation leading to vascular occlusion, most affected children die within the first 6 months of life. We report on two Taiwanese siblings with an identical genotype, but different clinical course. The male sibling developed heart failure and severe hypertension, and died at the age of 6 weeks despite of treatment with bisphosphonates, ACE inhibitors, and hydralazine. The subsequent female, who was monitored closely pre‐ and post‐natally, is having an uncomplicated clinical course up to the age of 1½ year now. There were similar characteristic sonographic and roentgenographic findings in both siblings in early infancy. In both siblings, the same compound heterozygous mutations (c.1025G > T [p.Gly342Val] and c.1112A > T [Tyr371Phe]) in ENPP1 were identified. Despite the same genotype and similar sonographic and radiographic features in early infancy, the phenotype of GACI can vary to a great extent within one family. © 2005 Wiley‐Liss, Inc.
Risks for severe mental retardation occurring in isolation and with other developmental disabilities
Authors: Jelliffe‐Pawlowski Laura L. , Shaw Gary M. , Nelson Verne , Harris John A. 
Published: June 2005

AbstractIndividual and maternal characteristics as potential risk factors for having severe mental retardation (SMR) occurring with and without cerebral palsy (CP), epilepsy, or a pervasive developmental disorder (PDD) were explored among a cohort of 119,404 children without Down syndrome born in the California Central Valley in 1992 and 1993. Unadjusted and adjusted relative risks (RRs) and their 95% confidence intervals (CIs) based on the Poisson distribution were used to estimate the risks associated with each individual and maternal factor studied for each SMR diagnostic category. The most notable increased risks for SMR occurring in isolation or with CP or epilepsy was for children born low‐birth‐weight or preterm who were at a substantially increased risk (RRs 2.6–9.9). In contrast, the risk of SMR occurring with a PDD was the greatest among males compared to females (RR = 3.4, 95% CI 1.5, 7.9), Blacks compared to Whites (RR = 5.1, 95% CI 1.7, 15.5), and Asians compared to Whites (RR = 3.9, 95% CI 1.3, 12.0). Etiologic heterogeneity when SMR occurs with a PDD was suggested. © 2005 Wiley‐Liss, Inc.
Hair whorls and handedness: Informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives
Authors: Scott Nicole M. , Weinberg Seth M. , Neiswanger Katherine , Brandon Carla A. , Marazita Mary L. 
Published: June 2005

AbstractCleft lip with or without cleft palate (CL/P) is a complex disorder with a range of phenotypic manifestations and a birth prevalence that varies by population (1/500–1/2,000). Investigators have postulated that CL/P cases may have abnormal brain development, citing structural brain differences, and cognitive impairments in affected individuals. Previously, increased levels of non‐right handedness (NRH), a marker for abnormal brain lateralization, have also been demonstrated in CL/P cases. Atypical hair whorls, more direct markers of altered brain development, may be related to NRH. To date, neither hair whorl patterns nor their relationship to NRH have been studied in a CL/P population. In the current study, we investigate the hypothesis that altered brain development is part of the phenotypic spectrum of NS CL/P by assessing NRH and atypical hair whorls in CL/P families. The study population included 49 nonsyndromic CL/P cases and 116 of their unaffected relatives; 21.8% of the study population was NRH compared to the 10% population estimate (P < 0.0001). Counter‐clockwise hair whorls (CCW) were found in 12.7% of all subjects compared to a population rate of 9.9 %. Of all subjects, 11% of the NRH individuals had CCW, which was similar to the frequency of CCW in right‐handed individuals. Approximately 80% of the whorls were placed on either the right or center of the scalp. No significant associations were found between the type of cleft and handedness, hair whorl rotation, or placement. These results suggest that certain phenotypic markers of abnormal brain development may comprise part of the extended phenotype of orofacial clefting. © 2005 Wiley‐Liss, Inc.
Mosaicism for an FMR1 gene deletion in a fragile X female
Authors: Fan Hongxin , Booker Jessica K. , McCandless Shawn E. , Shashi Vandana , Fleming Alison , Farber Rosann A. 
Published: June 2005

AbstractMost cases of fragile X syndrome result from expansion of CGG repeats in the FMR1 gene; deletions and point mutations of FMR1 are much less common. Mosaicism for an FMR1 full mutation with a deletion or with a normal allele has been reported in fragile X males. Here we report on a fragile X female who is mosaic for an FMR1 full mutation and an intragenic deletion. The patient is a 4‐year‐old girl with developmental delay, autistic‐like behaviors, and significant speech and language abnormalities. Southern blotting demonstrated the presence of a methylated full mutation, a normal allele in methylated and unmethylated forms, and an additional fragment smaller than the normal methylated allele. This result indicates that the patient is mosaic for a full mutation and a deletion, in the presence of a normal allele. By DNA sequence analysis, we mapped the 5′ breakpoint 63/65 bp upstream from the CGG repeat region and the 3′ breakpoint 86/88 bp downstream of the CGG repeats within the FMR1 gene. The deletion removed 210 bp, including the entire CGG repeat region. The full mutation was inherited from a premutation in the patient's mother. The deletion, which remained methylated at the Eag I and Nru I sites, was probably derived from the full mutation allele. Mosaicism of this type is rare in females with a fragile X mutation but should be kept in mind in the interpretation of Southern blots. © 2005 Wiley‐Liss, Inc.
Color changes in the haircoat of patas monkeys (Erythrocebus patas)
Authors: Palmer A. E. , London W. T. , Brown R. L. , Rice J. M. 
Published: June 2005

AbstractCaged patas monkeys were evaluated monthly to determine changes in the color of their hair during infancy, adolescence, pregnancy and lactation. From birth until 3 months of age the facial and anterior crown hairs were short, sparse, and completely black. The body fur was a fine, short, fawn‐colored hair mixed with longer black hairs which produced a black‐tipped effect. During the second 3 months of life the body fur and anterior crown fur became coarser, longer, and changed to a red‐brown color. The facial hairs thickened and became longer, but remained totally black. A thin line of black hairs outlined the brow and temple. The black chin hairs were gradually replaced by white from 7 to 24 months of age, and the upper lip hairs changed from black to white during the second year of life.Color changes related to pregnancy and lactation were confined to the nosepatch, cheek, and browline hair. The nosepatch and cheek hair changed from black or grey to completely white, and the browline faded to the approximate color of the body fur. These changes began approximately at the end of the second trimester of pregnancy, maximized during the third month of lactation, began to darken 1 to 2 months later, and returned completely to the black, nonpregnant colors approximately 1 year postpartum. In one nonlactating female, the darkening was delayed until 500 days postpartum and in one female ovariectomized in the light color phase, the darkening was complete 200 days later.The cause of these changes is believed to be hormonal, resulting from altered endocrine function during maturation and pregnancy, which may alter melanocyte stimulating hormone activity.
Adoption of infant howling monkeys (Alouatta palliata)
Authors: Clarke Margaret R. , Glander Kenneth E. 
Published: June 2005

AbstractDuring 3 years of continuous field observations on mantled howlers (Alouatta palliata Gray) in Costa Rica we observed five infants without mothers in the main study group. Four of these infants solicited care and two were adopted (one permanently, one temporarily) by lactating females. The other two were carried but not adopted. The fifth neither solicited nor received care. An infant must solicit care to receive care, and female howlers apparently can suckle more than one infant at a time.
Laparoscopic evaluation of the reproductive organs and abdominal cavity content of the lowland gorilla
Authors: Wildt D. E. , Chakraborty P. K. , Cambre R. C. , Howard J. G. , Bush M. 
Published: June 2005

AbstractLaparoscopy was used to examine the abdominal cavity and evaluate reproductive competence in six adult female gorillas which had not demonstrated copulatory activity within 12 months of examination. Blood samples were obtained on the day of laparoscopy and analyzed for serum estradiol‐17β and progesterone. The uterus and oviducts of each gorilla appeared morphologically normal and free of lesions. The ovaries of three animals contained anatomical evidence of activity as indicated by the presence of luteal scars and a prominent corpus hemorrhagicum, corpus luteum, or developing follicles. No visible luteal or follicular tissue was observed on the ovaries of three gorillas. In the eldest female (age, 22 years) the ovaries were flaccid in texture and demonstrated irregularities in ovarian surface integrity, similar to that observed in women during reproductive senescence. Serum concentrations of estradiol‐17β and progesterone on the day of laparoscopy corresponded with observed ovarian activity. All six females had extensive adhesions in the abdominal cavity exclusive of the reproductive organs. Numerous gut, omentum, and liver to peritoneum adhesions were observed. The results indicated that laparoscopy was a safe and effective method for evaluating anatomical competence in the gorilla. Uterine and ovarian integrity appeared morphologically normal, but only three of the six gorillas showed evidence of ongoing ovarian activity.
Brief report: Occurrence of anti‐resonance in the song of the siamang (Hylobates syndactylus)
Authors: Haimoff Elliott H. 
Published: June 2005

AbstractThe duetting behavior of siamangs (Hylobates syndactylus) has previously been observed as representing a complex, interactively organized, and standardized set of vocal features. Anti‐resonance in the bitonal screams of 15 males was observed. The sound energy of the fundamental frequency of the first note of these screams are absorbed, the result being a fundamental frequency which was virtually filtered out. The implications and consequences of such a rare phenomenon as anti‐resonance in the vocal behavior in gibbons is discussed.