Three cases of Type E brachydactyly from two intermixed burials in the Late Intermediate Period - Marcajirca Late Horizon Site, Ancash, Peru (2023)

This study provides evidence of a probable case of holoprosencephaly with cyclopia rarely reported in the paleopathological literature.

The skeletal remains of a male fetus between the 36th and 40th week of pregnancy from the skeletal collection of the Milan Cemetery Collezione Antropologica LABANOF (CAL) were examined.

Bones were examined macroscopically and pathological abnormalities were recorded and evaluated along with paleopathological and clinical literature.

Developmental abnormalities have been observed. Specifically, a single orbit and optic canal were present, and the frontal, sphenoid, and palatine bones were prematurely fused. These changes altered the normal morphology of the midline structures of the skull and face.

The observed developmental abnormalities are consistent with a case of holoprosencephaly associated with cycloopia.

Holoprosencephaly is a fatal congenital condition caused by the failure of the forebrain to separate in half. This condition is well known clinically, with an estimated modern incidence of 1/16,000 births; However, the paleopathological literature lacks reports that help anthropologists and paleopathologists in the interpretation of these anomalous signs in dry bone. This report documents a rare paleopathologic case of the disease in a full-term fetus from a collection of modern skeletons.

Taphonomic and anthropic factors may have interfered in the observation of any pathological characteristic.

Comparative studies with cases from documented collections can improve knowledge about the occurrence of this dry bone disease.

The skeletal remains of a young individual (Guinigi US 1278) are described and a differential diagnosis is made to determine the probable etiology of the bony changes.

Archaeological excavations carried out in the private funerary chapel of the upper-class Guinigi family (14th-17th centuries AD) of Lucca (Tuscany, central Italy) have brought the fragmented human skeletal remains of a young individual (Guinigi US 1278) in light of pathological bone changes.

The differential diagnosis followed the morphological and radiological analysis.

Guinigi US 1278 was a non-adult, 16 to 20 years old, showing active skeletal changes in the form of vertebral fusion and extensive subchondral bone changes of the small and large joints of the appendicular skeleton. The severity of the resorption process in the peripheral joints, as well as the fusion of the vertebrae, indicate a long-term inflammatory process.

The characteristics and distribution of the skeletal lesions of Guinigi US 1278 correspond very well to a form of juvenile idiopathic arthritis (JIA) that leads to irreversible phenomena such as subchondral erosive lesions and axial ankylosis with impaired gait and neck movements.

Although the clinical literature on JIA is abundant, paleopathological studies are scarce. The possible JIA case from Lucca offers a direct opportunity to study the chronic course of rheumatic diseases in young people in the absence of adequate medical therapies in antiquity.

Future molecular analyzes may be able to identify specific HLA region alleles responsible for JIA subtypes.

Real industrialization came late in South Africa and was associated with the development of mining in the northern regions. This article examines the emergence and spread of infectious diseases (particularly tuberculosis) in the context of metabolic diseases.

Published skeletal data from various mining sites and historical information are compiled, including information on early additions to the Raymond A. Dart Collection.

Although finds from various sites (eg Gladstone near the Kimberley, Koffiefontein, Witwatersrand Deep Mine and Lancaster Mine) have been described individually, they have not been assessed collectively. This article provides a broad overview by gathering information from these locations compared to a pre-industrial rural population.

Malnutrition, including scurvy, was common in most mining companies. Tuberculosis was rare in former mining areas, and the first possible skeletal cases did not appear until the establishment of gated housing complexes. From there, it quickly spread across the subcontinent.

Malnutrition/metabolic diseases and high mortality rates from trauma and infectious diseases were common. Tuberculosis in South Africa is closely linked to the development of the mining industry.

This research sheds light on the development of tuberculosis in South Africa and its association with the mining industry. The role of migrant workers and associated housing practices are explained.

Sample sizes are limited, but the results of this study are supported by documentary evidence.

The sample size should be increased and the association between living in a closed condominium and the development of the disease should be better investigated.

A malformed thoracic joint of the Middle Devonian antiarchipes Asterolepis ornata is described and congenital malformations in the fossil record are reviewed.

The specimen of A. ornata (MB.f.73) from Ehrman, Latvia, preserved at the Museum für Naturkunde Berlin, Germany.

A. ornata was examined macroscopically and radiologically and the overview of congenital malformations was based on an extensive literature review.

In the deformed joint of A. ornata, the joint surfaces and muscle insertion sites are greatly reduced, indicating limited mobility. Congenital malformations have been found since the Middle Silurian and affect all vertebrate groups, but they are rare. The teeth and spine are the most commonly affected anatomical regions, and the mechanisms that cause these malformations have likely remained the same throughout Earth time.

Microtomography of the deformed joint shows no disruption of the normal trabecular pattern and no evidence of trauma or disease, suggesting congenital hypoplasia, although an acquired deformity cannot be completely ruled out.

Congenital malformations, even rare ones, have been part of the common history of vertebrates for over 400 million years.

Epidemiological measures such as incidence and prevalence generally cannot be applied to define rare diseases in the fossil record.

A large-scale analysis of fossil vertebrate species with numerous specimens recovered (eg many teleosts, amphibians, certain dinosaurs) could statistically confirm the occurrence of malformations and possible correlations with the paleoenvironment.

Correlating atherosclerosis (Ath) and osteoarthritis (OA) in mummies from ancient Egypt.

Whole-body CT scans of 23 mummies from the Egyptian Museum and Papyrus Collection, Berlin, Germany and 22 mummies from the Museo Egizio, Turin, Italy.

Ath was evaluated in five anatomical regions based on preserved arterial calcifications. OA was assessed using the Kellgren and Lawrence (1957) classification.

Statistical analysis revealed no correlation between Ath and total OA. A significant association was found for Ath and the upper limb group for OA grade > 1 and for Ath and the lower limb group, consisting mainly of the hip and knee, for OA grade > 2 OA.

The association of Ath and advanced osteoarthritis of the hip and knee is comparable in prevalence to those reported in recent clinical studies, despite the low life expectancy and the different environment and lifestyle of the ancient Egyptians.

This is the first study to statistically correlate Ath and OA findings in ancient Egypt. Ath and OA diseases are widespread diseases with huge and growing implications for public health.

The large number of cardiovascular diseases was indicated only by the hardening of the arteries resisting the post mortem changes of the mummification process. Furthermore, the evaluated OA was based on the radiological OA.

Genomic studies of ancient Egyptian mummies may reveal genetic risk factors for Ath and OA that may be shared across ancient and modern populations.

Documented cases of anencephaly have been used to increase the differential criteria for this rare disease.

Two skulls from a 20th century^ºCentury documented medical collection at Moscow State University with a diagnosis of anencephaly.

The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and radiographic analysis.

Metric values ​​and morphological features differ between the two cases of anencephaly listed in the collection and published data based on normal fetal and neonatal remains.

The analysis of medical collections helps to increase the number of diagnostic criteria to detect and diagnose anencephaly in archaeological skeletons.

Improving the detection of skeletal changes associated with anencephaly is critical to improving our understanding of the rare diseases of the past.

The fragility of the skeletal elements of fetal and newborn individuals can make a detailed analysis difficult.

Continue to identify cases of anencephaly in medical collections and in archaeological contexts.