Linear enamel hypoplasia in the great apes: analysis by genus and locality

Most studies report a high prevalence of linear enamel hypoplasia (LEH) in the great apes relative to other nonhuman primates and some human populations. It is unclear if this difference is a direct result of poor health status for the great apes, or if it represents differential incidence due to a lower threshold (sensu Goodman and Rose, 1990 Am. J. Phys. Anthropol. [suppl.] 33:59-110) for the occurrence of enamel hypoplasia among great apes. This study uses the Smithsonian National Museum of Natural History's great ape collection to examine the prevalence of LEH, the most common type of hypoplasia observed. Frequencies of LEH are reported, as well as analyses by taxa and provenience. The study sample consists of 136 specimens and includes 41 gorillas, 25 chimpanzees, and 70 orangutans. Analyses of frequencies are presented for both individuals and teeth by taxonomic category and locality. Among the individuals in this study, 63.97% are affected by LEH. Overall, gorillas (29.27%) exhibit lower frequencies of LEH than chimpanzees (68.00%) and orangutans (82.86%). There is a marked difference in LEH frequencies between mountain and lowland gorillas. There is no difference in LEH frequencies between Sumatran and Bornean orangutans. A range of variation for the great apes in enamel hypoplasia frequencies is found when taxon and locality are considered. It is likely that both biological and environmental factors influence the high frequencies of enamel hypoplasia exhibited in the great apes.     

Probable case of Binder syndrome in a skeleton from Quarai,New Mexico

Binder syndrome (maxillonasal dysplasia) is a not uncommon disorder reported in the clinical literature and is characterized by hypoplastic development of the midface. An extensive review of the paleopathology literature did not reveal any examples of Binder syndrome. In this paper, a probable case of Binder syndrome in a female skeleton, 16-17 years at age of death, from Quarai, New Mexico (ca. AD 1375-1450) is presented. This case was identified during standard documentation prior to repatriation at the National Museum of Natural History, Smithsonian Institution.The skull of this individual (381243) exhibits unusual facial features, including an underdeveloped midface, flattened glabella, absent nasal spine, and apparent alveolar prognathism, in addition to a vertebral anomaly. All of these characteristics are consistent with skeletal dysmorphologies associated with Binder syndrome. Measurements of the Quarai skull are compared with published data on Binder patients and normal control groups in order to quantify the nature of the observed morphology. Univariate analysis of craniometric/cephalometric data provides further support for a diagnosis of Binder syndrome, as critical measurements on the Quarai skull are consistent with those reported in Binder patients and significantly different from those reported for normal control groups. In addition to presenting a probable prehistoric case of Binder syndrome, this paper demonstrates the applicability of using direct comparisons of clinical data to help identify unusual conditions in skeletal remains.     

Patterns of enamel hypoplasia in two medieval populations from Nubia's Batn el Hajar

Analysis of enamel hypoplasia frequencies for two medieval populations representing the earliest and latest Christian periods of ancient Nubia reveals important diachronic shifts in childhood stress. The mean frequency for hypoplastic bands among the early Christians is 4.2, while the late Christian sample has a mean frequency of 3.7. In addition, the earlier Christians show a prolongation of hypoplastic occurrences through childhood corresponding to a prolonged period of intensified childhood mortality. The modal time interval between hypoplastic occurrences is also shorter for the early Christian children. A comparison of hypoplasia frequencies by sex also reveals a pattern of considerable interest. Females show both lower frequencies of hypoplasias as well as a delay in onset. The diachronic differences are consistent with other indications from paleopathology and paleodemography that childhood stress decreased in later Christian times. The sex differences suggest that during the infancy and early childhood females were more resilient than their male counterparts.     

Health and differential survival in prehistoric populations: prenatal dental defects.

Linear hypoplasia of the deciduous teeth is rare in most human populations, but common where nutritional status is poor. Deciduous enamel hypoplasia, hypocalcification, and hypoplasia-related caries are described in Middle and Late Woodland skeletal series from the Lower Illinois Valley. Gross enamel defects that can be referred to pre-natal development are found in 83 of 170 children under six years of age at death. Circular caries secondary to hypoplasia is significantly more common in the Late Woodland series, reflecting the apparent higher cariogenicity of Late Woodland diets. There is a significant association between prenatal dental defects and bony evidence for anemia and infectious disease. Children with enamel defects show relatively higher weaning age mortality than those without. These relationships suggest that at least moderate levels of malnutrition existed in Illinois Woodland populations.     

RNase MRP RNA and human genetic diseases

RNase MRP RNA is the RNA subunit of the RNase mitochondrial RNA processing （MRP） enzyme complex that is involved in multiple cellular RNA processing events. Mutations on RNase MRP RNA gene （RMRP） cause a recessively inherited developmental disorder, cartilage-hair hypoplasia （CHH）. The relationship of the genotype （RMRP mutation）, RNA processing deficiency of the RNase MRP complex, and the phenotype of CHH and other skeletal dysplasias is yet to be explored.     

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

Achromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in CNGA3 or CNGB3 who had been followed up with OCT for up to 9 years. Based on observed structural changes in association with age, the following four-stage classification of retinal morphological changes was proposed: (I) preserved inner segment ellipsoid band (Ise), (II) disrupted ISe, (III) ISe loss and (IV) ISe and RPE loss. Data from six previously published studies reporting OCT morphology in CNGA3 and CNGB3 patients were additionally collected, forming the largest CNGA3/CNGB3 cohort to date, comprising 126 patients aged 1–71 years. Multiple regression analysis showed a significant correlation of OCT stage with age (p < 0.001) and no correlation with gene (p > 0.05). The median ages of patients with stages I–IV were 12 years, 23 years, 27 years and 48 years, respectively, and no patient older than 50 years had continuous ISe. Our findings suggest that achromatopsia presents with slowly but steadily progressive structural changes of the macular outer retinal layers. However, whether morphological changes in time follow the proposed four-stage linear pattern needs to be confirmed in a long-term study.     

Cerebellar Hypoplasia in Gunn Rats: Effects of Bilirubin on the Maturation of Glutamate Decarboxylase, Na,K-ATPase, 2'',3''-Cyclic Nucleotide 3''-Phosphohydrolase, Acetylcholine and Aryl Esterase, Succinate and Lactate Dehydrogenase, and Arylsulfatase Activities

Abstract: We have investigated the postnatal development of cerebellar glutamate decarboxylase (GAD), acetylcholine esterase (AChE), 2′,3′-cyclic nucleotide 3′-phosphohydrolase (CNPase), arylsulfatase, succinate dehydrogenase (SDH), Na,K-ATPase, arylesterase, and lactate dehydrogenase (LDH) activities in homozygous (jj) Gunn rats, comparing them with those in heterozygotes. Also examined were GAD activities in the anterior and posterior parts of the vermis cerebelli on day 13. The specific activities of GAD on the basis of wet weight (g) were lower in jj rats after day 10, and remained unchanged from days 10 to 15 in jj rats with severe hypoplasia. On day 13, GAD on wet weight and protein (mg) bases in the anterior part OfJJ rats was lower than that in the posterior parts of both rats. On the contrary, AChE activities based on wet weight after day 10 and on protein after day 5 in jj rats were significantly elevated. While correlations of GAD on a wet weight basis with the cerebellar wet weight were positive after day 8, those of AChE on wet weight and protein bases were inverse after days 10 and 5, respectively. CNPase and SDH activities based on protein in jj rats were higher after day 15 and showed inverse correlations with the cerebellar wet weight after days 15 and 10, respectively. Arylsulfatase activities on wet weight and protein bases in jj rats, which had a peak on day 20, were significantly high after days 10 and 8, respectively. Arylsulfatase activities by wet weight on days 10 to 20 and by protein after day 8 were inversely correlated with cerebellar wet weight in jj rats. These results suggest that the cerebellar inhibitory neurons, the axons of which make synaptic connections to the target cells from days 10 to 15, are selectively affected by bilirubin inji rats with severe hypoplasia. The enhanced arylsulfatase activity in jj rats on days 10 to 20 may be due to the increased number of lysosomes, suggesting that cell damage by bilirubin followed by cell destruction occurs. A high level of AChE activity in jj rats appears to show a relative increase in density of the mossy fibers in the hypoplastic cerebellum.