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At least 613 records · Page 34Linked to original sources

Mesencephalic cryptococcal abscesses presenting with parkinsonism as an initial manifestation of AIDS.

Parkinsonism has been associated with HIV/AIDS and cerebral cryptococcal disease, but to date there has been no report of histological cryptococcal lesions in the substantia nigra (SN) in a patient with parkinsonism. We report on a case of a 63-year-old man who presented with tremor, gait disturbance, and mask-like facies, and showed cryptococcal meningoencephalitis with cryptococcal abscesses in the SN at autopsy, without Lewy bodies or significant degeneration of the SN neurons. Parkinsonism also represented the first manifestation of AIDS in this previously undiagnosed patient. This case highlights the importance of considering infectious etiologies in patients presenting with parkinsonism, and underscores the need for autopsy in evaluation of patients with new or unexplained movement disorders. Movement disorders in association with AIDS and mesencephalic mass lesions are discussed.

Acquired Immunodeficiency Syndrome↗

Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.

Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral (multifocal) cases are often familial. Sporadic bilateral Rb associated with a long-arm deletion of a D-group chromosome has been reported in 8 children. We have studied a 6-year-old female with bilateral sporadic retinoblastoma, treated during infancy by enucleation and radiotherapy. Chromosome banding studies on peripheral lymphocytes revealed an interstitial deletion from the long arm of a chromosome 13: del(13) (q12q14). Three additional patients reported in the literature had interstitial 13q- deletions, involving slightly different though overlapping regions. The only chromosomal region consistently missing in all of these 4 cases appears to be part of the lightly staining band 13q14. We, therefore, propose this site as the precise location of a gene (or genes) involved in retinal development. Our patient lacked features of the classic 13q- or 13-ring syndrome, which involves deletion of a more distal portion of the 13 long arm. When compared to reported patients with Rb and 13q-, it became apparent that there may be a separate recognizable syndrome consisting of moderate growth and developmental delay, characteristic facies and external ears, and bilateral sporadic Rb, which is associated with an interstitial 13q- deletion.

Adult↗

Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence.

Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned breakpoints. They include proximal interstitial, intermediate interstitial, and terminal deletions. We present a male infant with an interstitial deletion of 1q with breakpoints determined by GTG banding as q25 and q32. Comparison with similar case reports suggests common physical features which include microcephaly, growth retardation, developmental delay, clinodactyly, and genital anomalies in affected males. However, no characteristic phenotypic appearance is definable. The infant also presented with prune belly sequence (PBS) with Potter facies. Fetal ascites, as noted in this case on prenatal ultrasound, appears to be an early factor in the pathogenesis of PBS. Therefore, detection of fetal ascites should suggest the presence of the PBS association and the need for more extensive prenatal evaluation.

Cesarean Section↗

Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.

Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive.

Facial Bones↗

Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.

Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre- and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum alpha-fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but a low head to abdominal circumference ratio and normal femur length. Fetal overgrowth with elevated MSAFP may prove to be useful markers for the prenatal diagnosis of SGB syndrome.

Abnormalities, Multiple↗

Second trimester diagnosis of Neu Laxova syndrome.

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed.

Abnormalities, Multiple↗

Adenotonsillectomy for upper airway obstruction carries increased risk in children with a history of prematurity.

To define better the clinical presentation and perioperative outcome in children undergoing adenotonsillectomy (T&A) for relief of upper airway obstruction (UAO), we reviewed the hospital records of 60 consecutive, otherwise normal children aged 12 years or younger. Seven patients with trisomy 21, neurologic impairments, or preoperative cor-pulmonale were excluded. Intraoperative and postoperative complications were experienced by 15 (34%) and 13 (25%), respectively, of the 53 children with preoperative UAO. The most severe complications comprised pulmonary edema and prolonged postoperative oxyhemoglobin desaturation. Multivariate logistic regression analysis found a history of prematurity and/or low birth weight to be the most significant risk factors related to the occurrence of complications. Twenty-eight % of the study population had a history of prematurity and they had approximately 85% of the perioperative complications seen in children with UAO undergoing T&A. Other significant risk factors included adenoidal facies and evidence of respiratory distress at the time of surgery. It appears that T&A poses significant risk for children with UAO who were born prematurely and have evidence of abnormal facial development or respiratory distress preoperatively.

Adenoidectomy↗

Atelencephalic microcephaly in a 21-week human fetus.

Atelencephalic microcephaly, a rare and extreme disorder, is known morphologically by only six cases. Derivatives of the telencephalon are absent or dysplastic, while more caudal structures are normal or mildly deformed. A more extensive form, aprosencephaly, involves structures of the diencephalon and may be associated with holoprosencephalic facies. Extracranial anomalies may be present in both atelencephaly and aprosencephaly. We describe the seventh and youngest specimen, a 21-week female with atelencephaly. Maternal and gestational histories were unremarkable; the fetus was obtained by therapeutic abortion following diagnosis of a severe cranial malformation by ultrasound. A small and depressed, but intact, calvarium covered the brain. The forebrain was rounded and showed fused hemispheres, absent gyri, olfactory bulbs, and tracts. Caudal structures were mildly deformed. An oval mass of bone filled much of the middle cranial fossa. By light microscopy, several dysplastic changes were apparent in the forebrain. Ventricles were not present; small round cells resembling those of the germinal matrix were prominent in the forebrain. Pyramidal tracts were absent at all levels. The process responsible for these changes cannot be established with certainty; the changes are, however, in keeping with previous damage, such as that accepted for other encephaloclastic disorders. The insult in atelencephaly presumably occurs after closure of the rostral neuropore; earlier damage, with more widespread consequences, is possible for aprosencephaly. As with other destructive processes, etiology in atelencephaly and aprosencephaly is most likely heterogeneous.

Brain↗

Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae.

Larsen syndrome consists of skeletal dysplasia with multiple joint dislocations and a characteristic facies. The basis of this abnormality is a generalized mesenchymal disorder involving connective tissues. We describe our findings in a woman who was referred at 28 weeks' gestation due to multiple fetal anomalies suspected initially at an 18-week ultrasound examination. On three-dimensional (3D) ultrasound we found the fetus had bilateral genu recurvatum. Further 3D examination at 36 weeks confirmed the lower limb anomaly and revealed facial anomalies that led to the diagnosis of Larsen syndrome. An elective Cesarean section was performed at 38 weeks' gestation to minimize neurological sequelae. Magnetic resonance imaging was performed postnatally and showed pachygyria, colpocephaly and agenesis of the corpus callosum. In this case, 3D ultrasound facilitated the prenatal diagnosis of Larsen syndrome. A careful prenatal investigation for other associated anomalies such as those of the cardiovascular or neurological systems is warranted with this diagnosis. These associated lesions are likely to have a greater impact on prognosis than the classic symptoms of Larsen syndrome and a collaborative approach is necessary to optimize delivery and postnatal management of an affected fetus.

Adult↗

Late onset microcephaly: failure of prenatal diagnosis.

We present a case of recurrent primary developmental microcephaly of late onset, the prenatal diagnosis of which could not be achieved despite performing targeted serial ultrasound scans that revealed no obvious fetal abnormality. Serial scans for head measurements and detailed examination of the brain anatomy by both transabdominal and transvaginal sonography including color and power Doppler assessment revealed no obvious brain abnormality. Frontal lobe distance and thalamic frontal lobe distance at 36 weeks were on the 30th and 50th centiles, respectively. Growth velocity remained on the 50th centile up to 36 weeks; between 36 and 38 weeks measurements were between the 35th and 40th centiles. The infant was delivered by Cesarean section at 38 weeks on parental request. On examination after birth the head circumference was on the 9th centile, but the facies was that of a microcephalic child with a sloping forehead and neurologically he was severely abnormal. The adequacy of the normal reference ranges used is reviewed: the use of sex-specific growth charts at 38 weeks would have demonstrated the biparietal diameter and the head circumference to be on the 20th and 15th centiles, respectively, rather than just below the 40th centile. However, even sex-specific charts may not allow the recognition of a substantial number of affected fetuses.

Brain↗

Clinical and biochemical studies in an American child with sialuria.

Sialuria is a rare inborn error of sialic acid (NeuAc) metabolism resulting from failure of CMP-NeuAc to adequately feedback inhibit the rate-limiting enzyme in sialic acid synthesis, UDP N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We describe the fourth reported sialuria patient, T.W., whose clinical features include developmental delay, coarse facies, and massive urinary excretion of sialic acid. Biochemical studies of T.W. fibroblasts revealed a 200-fold increase in free NeuAc content compared with normal. Bound NeuAc was only slightly elevated. The free NeuAc was predominantly in the cytosol fraction of fibroblasts after differential centrifugation, with only 4% of the free NeuAc content in other (nuclear, granular, and microsomal) cellular compartments. CMP-NeuAc inhibited UDP-GlcNAc 2-epimerase by 80% in normal fibroblasts but inhibited the epimerase of T.W. (sialuria) cells by only 13%. Cytidine feeding of sialuria fibroblasts decreased the intracellular free NeuAc content by 47%; this was accompanied by a fourfold increase in CMP-NeuAc, which may be sufficient to feedback inhibit the mutant epimerase and reduce free NeuAc production. Cytoplasmic pH was determined by the pH sensitive fluorescent indicator 2',7'-bis(carboxyethyl)-5(6)-carboxyfluorescein, pentaacetoxymethylester (BCECF/AM) using the H+ equilibration method. The intracellular pH of sialuria fibroblasts, 7.18 +/- 0.04, was not found to be significantly different from that of normal cells (7.19 +/- 0.08).

Cells, Cultured↗

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified. In addition, the size of the genomic interval commonly deleted in WS patients has not been established. In this study we report the characterization of a 500-kb region that was determined to be deleted in our collection of WS patients. A detailed physical map consisting of cosmid, P1 artificial chromosomes, and yeast artificial chromosomes was constructed and used for gene isolation experiments. Using the techniques of direct cDNA selection and genomic DNA sequencing, three known genes (ELN, LIMK1, and RFC2), a novel gene (WSCR1) with homology to RNA-binding proteins, a gene with homology to restin, and four other putative transcription units were identified. LIMK1 is a protein kinase with two repeats of the LIM/double zinc finger motif, and it is highly expressed in brain. RFC2 is the 40-kDa ATP-binding subunit of replication factor C, which is known to play a role in the elongation of DNA catalyzed by DNA polymerase delta and epsilon. LIMK1 and WSCR1 may be particularly relevant when explaining cognitive defects observed in WS patients.

Amino Acid Sequence↗

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Williams syndrome (WS) is a contiguous gene syndrome caused by hemizygosity for a chromosomal deletion at 7q11.23. The range of phenotypes includes mental retardation, dysmorphic facies, heart abnormalities, short stature, a specific cognitive profile, hyperacusis, and infantile hypercalcaemia. To identify all the deleted genes, we have constructed a detailed physical map and complete BAC/PAC contig of the critical region, extending a distance of approximately 2 Mb and delimited by the nondeleted markers D7S1816 and D7S489A. Somatic cell hybrids of WS patients were made and used to define the centromeric and telomeric deletion breakpoints, enabling the size of the WS deletion to be defined as approximately 1.4 Mb. Genes previously mapped to the region have been located on the contig, and we have isolated eight transcripts, two of which have been characterized as the genes CPETR1 and CPETR2. This contig and expressed sequence map will form the basis for the construction of a complete transcription map of the deleted region and will enable genotype-phenotype correlations to be attempted to identify the individual components of WS.

Chromosome Mapping↗

Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.

The helix-loop-helix transcription factor HAND2 plays a vital role in the development of the heart, limb, facies, and other neural crest-derived structures. We used differential display analysis to identify 33 putative HAND2-regulated ESTs that are differentially expressed in Hand2(-/-) vs wild-type mice. We determined the positions on mouse and human genetic maps of 29 of these by using the T31 mouse Radiation Hybrid panel, comparison to human genomic sequence, and comparative mapping. We examined the conserved chromosomal locations for phenotypes that involve development of heart, face, and limb structures that are affected by HAND2. One EST mapped to a region of conserved synteny between mouse chromosome 2 and human chromosome 10p. RACE analysis extended the sequence and identified this cDNA as the mouse ortholog of human nebulette, an actin-binding protein expressed in fetal heart. Nebulette was shown to be deleted in DiGeorge Syndrome 2 patients with the proximal deletion of human 10p13-p14 that is associated with cardiac and craniofacial abnormalities.

Animals↗

Non-newtonian behavior of an insoluble monolayer: effects of inertia.

Interfacial velocity measurements were performed in an optical annular channel, consisting of stationary inner and outer cylinders, a floor rotating at a constant rate, and a flat free surface on which an insoluble monolayer was initially spread. Measurements for essentially inviscid monolayers and some viscous monolayers on water show good agreement with numerical predictions for a Newtonian interface (Boussinesq-Scriven surface model) coupled to a bulk flow described by the Navier-Stokes equations. Here, we consider in detail a viscous monolayer, namely hemicyanine, and find that above a certain concentration, the monolayer does not behave Newtonian at a Reynolds number of about 250. We show that the discrepancies between the measurements and predicted Newtonian behavior are not due to compositional effects (i.e., nonuniform monolayer distribution), Reynolds number (i.e., inertia and/or secondary flows), or surface dilatational viscosity (which does not play any role in the parameter regime investigated). We show prima facie evidence that the observed shear thinning nature of the velocity profile is associated with a phase transition at C approximately 0.9 mg/m(2) at low Reynolds numbers. At large Reynolds numbers (Re=8500), hemicyanine is found to flow like a viscous Newtonian monolayer on the air/water interface, with viscosity dependent only on the local concentration.

Journal Article↗

Wasatchian-Bridgerian (Eocene) paleoecology of the western interior of North America: changing paleoenvironments and taxonomic composition of omomyid (Tarsiiformes) primates.

Many changes in mammalian faunas occurred across the early (Wasatchian) to middle (Bridgerian) Eocene boundary as documented in the fossil record from the Western Interior of North America. One of the more striking changes took place within the tarsiiform primate family Omomyidae. In the early Eocene, omomyids were dominated, both in abundance and diversity, by the subfamily Anaptomorphinae. In the middle Eocene, the subfamily Omomyinae dominated in abundance, while both subfamilies were nearly equally diverse. Examination of a series of paleoecological indicators including leaf-margin analysis, cenogram analysis, ecological diversity analysis of trophic structure, the distribution and development of ancient soil horizons (paleosols), and the distribution of lacustrine and fluvial facies in the Bighorn and southern Green River basins of Wyoming reveals factors that may have influenced the composition of omomyid primates. Subtle but important changes occurred in paleoclimates with mean annual temperatures reaching Cenozoic maximums at the end of the Wasatchian into the early Bridgerian. Both land mammal ages were typified by subtropical, closed forested conditions, but the Bridgerian was probably more humid and wetter than the Wasatchian. Paleohabitats most commonly sampled in the Wasatchian of the Bighorn Basin are proximal and distal floodplains, while those of the Bridgerian in the southern Green River Basin are lake margins and proximal floodplains. Changes in paleoclimate may have triggered a wave of omomyine immigration near the end of the Wasatchian with omomyines entering into habitats previously occupied by anaptomorphines. Lake margin and proximal floodplain habitats are those most commonly occupied by omomyines in the Bridgerian with anaptomorphines being more common in basin margin and distal floodplain areas not commonly sampled. Omomyine immigration and sampling of differing paleohabitats are two possible explanations for the changes documented in omomyid diversity and abundance.

Animals↗

Middle Palaeolithic burial is not a dead issue: the view from Qafzeh, Saint-Césaire, Kebara, Amud, and Dederiyeh.

Inferences of purposeful Middle Palaeolithic (MP) burial are almost universally accepted, despite published arguments that the pre-1960s discoveries are equally well explained by natural processes. In the modern human origins debate (perhaps the most hotly disputed question in palaeoanthropology) inferences of MP burial are crucial in arguments for an early Upper Pleistocene emergence of modern humans. The present paper contributed to that debate by re-examining a number of post-1960s excavations of MP hominid remains. Because these were excavated with meticulous attention to depositional circumstances and stratigraphic context, most palaeoanthropologists consider these inferences of purposeful burial to be based on irrefutable evidence. This paper focuses on the reasoning behind such claims, especially the assumption that articulated sketetal material is prima facie evidence for deliberate burial. First it reviews a range of processes operating in caves and rockshelters that condition the probability of articulated skeletal material preserving without hominid intervention. Processes such as deposition, decomposition, and disturbance are inherently more variable in caves and rockshelters than is usually acknowledged. The first section concludes that purposeful protection is not necessary to account for the preservation of articulated skeletal remains. The second part of the paper examines the published record from Qafzeh, Saint-Césaire, Kebara, Amud and Dederiyeh, where the majority of the remains claimed to have been buried are fragmented, incomplete, and disarticulated. This re-examination suggests that in all of the post-1960s cases of putative burial, the hominid remains occur in special depositional circumstances, which by themselves are sufficient to account for the preservation in evidence at these sites. This conclusion severely weakens arguments for purposeful burial at the five sites. Moreover, the equivocal nature of the evidence in the more recent cases renders even less secure the similar claims made for discoveries of hominid skeletal remains at La Chapelle-aux-Saints, Le Mousterier, La Ferrassie, Teshik-Tash, La Grotte du Régourdou, Shanidar, and several others. Finally, by highlighting the equivocal nature of the evidence, this paper underscores the ongoing need for palaeoanthropologists to specify as wide a range of taphonomic processes as possible when interpreting the archaeological record. This will aid in producing robust inferences, and will bring about increasingly accurate knowledge of when hominids became human.

Animals↗

Relationship between number of muscles, behavioral repertoire size, and encephalization in mammals.

Behavior for mammals is built out of multiple muscles acting in a coordinated fashion. Prima facie, there are three principal ways to increase an animal's behavioral repertoire size. The first is to, for each new behavior type, create a set of new muscle types (e.g. triceps, sartorius, etc.) with new functions specifically devoted to the implementation of that behavior type. If this were the case, then although each behavior is built out of many muscles, behavior is not built in a combinatorial fashion out of muscles. The second is similar to the first in that new behavior types are implemented via new muscle types, but, instead, muscles are used in a combinatorial fashion, so that it is the combination of the new muscle type with existing muscle types that makes the new behavior type possible. This is analogous to the addition of new words in a language. The third way behavioral complexity may be scaled up is to increase the complexity of behavioral expressions themselves (rather than increasing the number of muscles types), namely by having more muscles involved in an average behavior. This is analogous to uttering longer sentences in a language. My main task in this paper is to examine which of these ways underlies the increase of behavioral complexity among mammals. Behavioral repertoire sizes from the ethology literature were accumulated for mammals from two dozen species across eight orders, and the number of muscle types was estimated from atlases of anatomy across eight mammalian orders. The manner in which behavioral complexity actually increases among mammals appears to favor the second possibility mentioned above: greater behavioral complexity is achieved primarily by increasing the number of muscle types, and by using muscles in a combinatorial fashion. The theoretical framework I describe allows us to interpret the manner in which the number of muscle types scales with behavioral repertoire size, and I conclude that the number of degrees of freedom in the construction of behavioral expressions is on the order of three, which is probably due to neurobiological limitations in forming behaviors. The ontogeny of behavior in rat is also discussed within this framework. Finally, I show that there is a strong positive relationship between behavioral repertoire size and encephalization among mammals.

Animals↗