scholarly journals A new investigative strategy to diagnose β-thalassemia syndrome in past human populations

2021 ◽  
Vol 13 (2) ◽  
Author(s):  
Filippo Scianò ◽  
Barbara Bramanti ◽  
Emanuela Gualdi-Russo

AbstractThe study of thalassaemia syndromes in archeological human remains is of growing interest in the field of paleopathology. However, a definitive diagnosis of the disease in skeletonized individuals remains difficult. Several non-specific bone lesions have been suggested as the most likely evidence of β-thalassaemia syndrome. In particular, skull lesions have been considered by several scholars as the most indicative of this hematopoietic disorder, while other authors have identified postcranial lesions as the best evidence of β-thalassemia. In this study, we reviewed the main features that have been identified in β-thalassaemia patients thanks to an extensive bibliographic research of clinical cases, radiological and microscopic analyses. Our aim was to discern between those skeletal lesions that can be considered “indicative/diagnostic” and those that are “indicative/non-diagnostic” of β-thalassaemia syndrome. With this knowledge, we developed a new evaluation form (Eva-BeTa) and tested it on previously published archeological cases. Based on our results, we believe that Eva-BeTa can be a valid diagnostic tool for the identification of ancient individuals potentially affected by β-thalassemia for further genetic confirmation.

2006 ◽  
Vol 73 (5) ◽  
pp. 1395-1403 ◽  
Author(s):  
Ethell Vereen ◽  
R. Richard Lowrance ◽  
Dana J. Cole ◽  
Erin K. Lipp

ABSTRACT Campylobacter is the leading cause of bacterium-associated diarrhea in the United States and most developed countries. While this disease is considered a food-borne disease, many clinical cases cannot be linked to a food source. In rural and agrarian areas environmental transmission may be an important factor contributing to case loads. Here we investigated the waterborne prevalence of campylobacters in a mixed-use rural watershed in the coastal plain of southern Georgia (United States). Six sites representing various degrees of agricultural and human influence were surveyed biweekly to monthly for 1 year for the presence of culturable thermophilic campylobacters and other measures of water quality. Campylobacters were frequently present in agriculture- and sewage-impacted stretches of streams. The mean campylobacter counts and overall prevalence were highest downstream from a wastewater treatment plant that handled both human and poultry slaughterhouse waste (≤595 CFU ml−1; 100% positive); the concentrations were significantly higher than those for the four upstream sites (P < 0.05). The counts were significantly correlated with the number of fecal coliform bacteria, conductivity, pH, and concentrations of nutrients (NO3 −, PO4 3−, and NH3). Campylobacters were isolated more frequently and larger numbers were present during the summer months, similar to the occurrence of clinical cases of campylobacteriosis in this region. A multivariate model showed that the levels were significantly influenced by increasing precipitation, which also peaked in the summer. The results indicate that loading from both human and domestic animal waste may be high in the watershed studied during the summer months. Mixed-use watersheds supporting agriculture production, human populations, and wildlife may be at risk for contamination by campylobacters and may be an important route for human exposure.


1967 ◽  
Vol 32 (4) ◽  
pp. 498-506 ◽  
Author(s):  
Charles F. Merbs

AbstractThe traditional approaches of comparative human osteology have proven largely unsatisfactory in attempts to determine biological relationships among human populations which cremated their dead. However, one category of information, that of discrete traits or skeletal anomalies, has been largely ignored. Cremations from Point of Pines, Arizona, were analyzed to determine if this kind of information, along with that usually sought from skeletal material, could be obtained in sufficient quantity to make comparative biological studies feasible. The results were encouraging, but they indicate that extraordinary care will be required in the future excavation and storage of cremated material.


2018 ◽  
Vol 66 (3) ◽  
pp. 263-266
Author(s):  
Paulo de Camargo MORAES ◽  
Daniela Prata TACCHELLI ◽  
Rubens Gonçalves TEIXEIRA ◽  
Luciana Butini OLIVEIRA ◽  
José Luiz Cintra JUNQUEIRA

ABSTRACT Anatomical variations of mandibular canal have rarely been reported in the literature. The aim of this paper is to present three clinical cases of bifid mandibular canal diagnosed with cone-beam computed tomography (CBCT) as well as discuss its clinical implications. The first case is very interesting due to its anatomic variation verified in a panoramic radiograph during orthodontic planning, mimicking an odontogenic tumor. The second and the third cases were identified during tomographic evaluation for third molar exodontia. The diagnosis of bifid canals is extremely relevant in order to avoid complications during surgical procedures and implant placement as well as anesthesia failures which cause pain, paresthesia and bleeding. Furthermore, the shape of these anatomical variations can be confused with bone lesions.


Endocrinology ◽  
2019 ◽  
Vol 160 (8) ◽  
pp. 1786-1796
Author(s):  
Henry H Moon ◽  
Katrina L Clines ◽  
Mark A Cooks ◽  
Charlotte A Cialek ◽  
Marian A Esvelt ◽  
...  

Abstract Bone metastasis is a painful complication of advanced prostate cancer. Endothelin-1 is a tumor-secreted factor that plays a central role in osteoblast activation and the osteosclerotic response of prostate cancer metastatic to bone. Antagonists that block the activation of the endothelin A receptor (ETAR), located on osteoblasts, reduce osteoblastic bone lesions in animal models of bone metastasis. However, ETAR antagonists demonstrated limited efficacy in clinical trials of men with advanced prostate cancer who also received standard androgen deprivation therapy (ADT). Previous data from our group suggested that, in a mouse model, ETAR antagonists might only be efficacious when androgen signaling in the osteoblast is lowered beyond the ability of standard ADT. This notion was tested in a mouse model of prostate cancer bone metastasis. Castrated and sham-operated male athymic nude mice underwent intracardiac inoculation of the ARCaPM castration-resistant prostate cancer cell line. The mice were then treated with either the ETAR antagonist zibotentan or a vehicle control to generate four experimental groups: vehicle+sham (Veh+Sham), vehicle+castrate (Veh+Castr), zibotentan+sham (Zibo+Sham), and zibotentan+castrate (Zibo+Castr). The mice were monitored radiographically for the development of skeletal lesions. The Zibo+Castr group had significantly longer survival and a single incidental lesion. Mice in the Zibo+Sham group had the shortest survival and the largest number of skeletal lesions. Survival and skeletal lesions of the Veh+Sham and Veh+Castr groups were intermediate compared with the zibotentan-treated groups. We report a complex interaction between ETAR and androgen signaling, whereby ETAR blockade was most efficacious when combined with complete androgen deprivation.


interpreted in different ways by individual scholars. Why, for example, is the preponderance of male depictions seen at Grot ta di Porto Badisco interpeted as meaning male domination of Neolithic society in Italy (Whitehouse, 1992b) whereas Hodder (1990: 68) declines to interpret the common occurrence of female figurines in the Neolithic of S.E. Europe as an indication of an equivalent female domination of society, but instead suggests "To put it over-simply, women may or may not have had any real power in the Neolithic of S.E. Europe, but certain aspects of being a woman were conceptually central."? One can cite a similar example from Skeates (1994: 207-8), where he accepts Whitehouse's identification of the human figures as males or females, but disagrees with her interpretation of male dominance and hostility between the sexes in Italian Neolithic society. Each of these two scholars also has their own interpretation of the important group 16 painted scene from the Grotta do Porto Badisco — needless to say, I also have mine. By turning to burial evidence, can one avoid the above dilemmas? Physical anthropological methods can be used to identify male and female human remains, and, knowing the sex of burials could then lead to a better understanding of the gender affiliations of accompanying grave goods. These artefacts can then be investigated in other contexts such as settlement sites. However, there is a surprising amount of uncertainty involved in sexing human remains. In this paper I wish to discuss the uncertainties in the physical anthropological methods of sexing human remains and their implications for gender studies by focussing on a recent analysis of an Iron Age necropolis at Pontecagnario, Campania, carried out by Vida Navarro (1992). PHYSICAL ANTHROPOLOGICAL METHODS OF SEXING HUMAN REMAINS Since gender is culturally constructed, it is possible for individuals or groups to have a gender that is different from their biological sex, or is intermediate or anomalous in some way. For example, in Ancient Rome, a Vestal Virgin had an ambiguous status in Roman society as shown by the fact that she could give evidence in a law court like a man. Usually Roman women had to be represented by a male relation or their spouse and could not speak in court on their own behalf or give evidence (Beard 1980: 17). Nevertheless, a Vestal Virgin was still a woman, and was allowed to marry, if she so wished, after her term of office finished (Beard 1980:, 14, note 21). Although ambiguous groups of this kind have been recognised in many societies, it is nonetheless the case that one would expect a high level of correlation between biological sex and social gender. The accurate identification of the biological sex of human remains would therefore be a great step forward in understanding gender construction and gender roles in prehistory. Unfortunately, physical anthropological methods are reliable only to a certain extent, and it is important for all archaeologists to be aware of the limitations of these methods. Like other primates, humans show sexual dimorphism i.e., the males have a larger body and show other skeletal differences from females, especially in the shape of the pelvis. When an intact pelvis is present in a burial, the identification of those remains as male or female can be made with 95% confidence (Krogman & Iscan 1986: 259). This, of course, applies to recent skeletal material, as the morphological and morphometric methods for sex identification used by anthropologists are based on reference collections from modern human populations. As Gotherstrom et ¿z/. (1997) point out, the application of these standards to prehistoric remains may be inappropriate. Prehistoric females may have been more skeletally robust, so that in the absence of a diagnostic pelvis, they could appear to be males, according to standards derived from modern populations. The pelvis anchors muscles, and "Considering the plasticity of the skeleton in response to external forces and stimuli, there are reasons to proceed with caution in interpreting all morphological differences in the pelvic region as a result of differential reproductive function." (Gotherstrom et al. 1997).

2016 ◽  
pp. 44-58

1999 ◽  
Vol 354 (1379) ◽  
pp. 111-119 ◽  
Author(s):  
Franco Rollo ◽  
Isolina Marota

The analysis of the DNA of ancient micro–organisms in archaeological and palaeontological human remains can contribute to the understanding of issues as different as the spreading of a new disease, a mummification process or the effect of diets on historical human populations. The quest for this type of DNA, however, can represent a particularly demanding task. This is mainly due to the abundance and diffusion of bacteria, fungi, yeasts, algae and protozoans in the most diverse environments of the present–day biosphere and the resulting difficulty in distinguishing between ancient and modern DNA. Nevertheless, at least under some special circumstances, by using rigorous protocols, which include an archaeometric survey of the specimens and evaluation of the palaeoecological consistency of the results of DNA sequence analysis, glimpses of the composition of the original microbial flora (e.g. colonic flora) can be caught in ancient human remains. Potentials and pitfalls of this research field are illustrated by the results of research works performed on prehistoric, pre–Columbian and Renaissance human mummies.


SICOT-J ◽  
2020 ◽  
Vol 6 ◽  
pp. 28 ◽  
Author(s):  
Ahmed H. K. Abdelaal ◽  
Mohamed Sedky ◽  
Seham Gohar ◽  
Iman Zaki ◽  
Asmaa Salama ◽  
...  

Introduction: Skeletal involvement in children with Langerhans cell histiocytosis (LCH) is a common feature of the disease. Several options for the treatment of these skeletal lesions have been reported. We describe our experience in the treatment of skeletal involvement of LCH in this retrospective case series study, entailing anatomic distribution, pattern of healing, skeletal deformities, and functional outcome of skeletal LCH. Methods: A retrospective analysis was conducted for patients diagnosed with LCH and having skeletal lesions in the period between 2007 and 2015. Out of a total of 229 cases, 191 (83.4%) had skeletal involvement. Bone healing was divided into partial and complete based on the size of lesion and cortical changes in plain radiograph. Skeletal deformities were serially measured. Time to pain control, resumption of weight bearing, and the final functional status of the patient were reviewed. Results: The mean age at presentation was 4.4 years (3 m–14.8 y) and the mean follow-up period was 53.3 months (0.2–120.7). After screening of skeletal and extra-skeletal lesions, 59 patients (31%) had M-S (Multisystem) LCH and 132 (69%) had S-S (Single system) LCH. Unifocal bone lesions were found in 81 (42.5%) patients, and multifocal bone lesions in 110 patients (57.5%). Single or multiple bone lesions were found in the craniofacial bones in 152 patients (79.5%), femur in 19 patients, (10%), ribs in 18 patients (9.4%), spine in 15 patients (8.1%), pelvis in 14 patients (7.3%), scapula in 8 patients (4.1%), humerus in 6 (3.1%), clavicle in 6 patients (3.1%), tibia in 3 patients (1.5%), radius in 3 patients (1.5%), and the ulna in 2 patients (1%) patients. No lesions were found in the fibula, hand, or foot. Out of all skeletal lesions, 179 (93.7%) patients were treated either medically or conservatively and 12 patients (6.2%) were treated surgically. The mean time to complete healing was 5.2 months (2–12). Skeletal complications included: pathologic fractures (9 vertebra plana, 5 long bone, 1 iliac bone), deformities (9 thoracolumbar kyphosis, 2 cervical spine subluxations, 2 coxa vara deformity of the proximal femur and one flattening of iliac bone). Conclusion: Non-operative treatment can lead to adequate bone healing in few months period. Partial or complete remodeling of bone deformities can be observed without surgical correction. However, surgical intervention might be indicated when cervical spine affection may lead to instability and subsequent neurological affection. Functional impairment is rarely caused by skeletal lesions in LCH.


mBio ◽  
2014 ◽  
Vol 5 (4) ◽  
Author(s):  
Gemma L. Kay ◽  
Martin J. Sergeant ◽  
Valentina Giuffra ◽  
Pasquale Bandiera ◽  
Marco Milanese ◽  
...  

ABSTRACT Shotgun metagenomics provides a powerful assumption-free approach to the recovery of pathogen genomes from contemporary and historical material. We sequenced the metagenome of a calcified nodule from the skeleton of a 14th-century middle-aged male excavated from the medieval Sardinian settlement of Geridu. We obtained 6.5-fold coverage of a Brucella melitensis genome. Sequence reads from this genome showed signatures typical of ancient or aged DNA. Despite the relatively low coverage, we were able to use information from single-nucleotide polymorphisms to place the medieval pathogen genome within a clade of B. melitensis strains that included the well-studied Ether strain and two other recent Italian isolates. We confirmed this placement using information from deletions and IS711 insertions. We conclude that metagenomics stands ready to document past and present infections, shedding light on the emergence, evolution, and spread of microbial pathogens. IMPORTANCE Infectious diseases have shaped human populations and societies throughout history. The recovery of pathogen DNA sequences from human remains provides an opportunity to identify and characterize the causes of individual and epidemic infections. By sequencing DNA extracted from medieval human remains through shotgun metagenomics, without target-specific capture or amplification, we have obtained a draft genome sequence of an ~700-year-old Brucella melitensis strain. Using a variety of bioinformatic approaches, we have shown that this historical strain is most closely related to recent strains isolated from Italy, confirming the continuity of this zoonotic infection, and even a specific lineage, in the Mediterranean region over the centuries.


2021 ◽  
Author(s):  
Vladislav Olegovich Ripp ◽  
Tatyana Pavlovna Berezovskaya ◽  
Sergey Anatolyevich Ivanov

Objectives. The possibility of a personalized approach to the treatment of metastatic prostate cancer and breast cancer requires objective methods for evaluation of response of foci treatment in the skeleton. The proven high efficiency of MRI in detecting bone metastases, in combination with the absence of ionizing radiation, has laid the groundwork for using this method in monitoring the treatment course based on objective criteria for evaluation of the therapeutic outcome. Aim. To analyze quantitative and semi-quantitative parameters of MRI-evaluation of treatment efficacy (radiation, chemotherapy, hormone therapy, and targeted therapy) of bone metastases that were used in prostate and breast cancer clinical trials. Materials and methods. The databases Embase, PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), eLibrary were searched until April 1, 2021, using the following keywords: magnetic resonance imaging, MRI, DWI, treatment response, prostate cancer or breast cancer, and bone metastasis. Only studies related to the MRI-evaluation of treatment efficacy of any type of therapeutic intervention (with the exception of surgery) for metastatic skeletal lesions have been included in this review. Results. Of the 312 sources found as a result of the search, 11 studies were selected and analyzed. It allowed us to identify four groups of objective MRI-criteria for evaluating the therapeutic effect in metastatic bone lesions in patients with prostate and breast cancer that include the dynamics of: a) sizes; b) signal intensity on DWI; c) ADC; d) tumor total diffusion volume (tDV). Changes in these quantitative and semi-quantitative indicators, with only one exception, had the same direction, although they differed in numerical values. Conclusion. MRI is an informative technique for the objective evaluation of the response of bone metastases to therapy in patients with prostate cancer and breast cancer based on quantitative and semi-quantitative parameters. It has significant potential as a diagnostic test instrument for monitoring the effectiveness of treatment of metastatic skeletal lesions.


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