Qafzeh 9 mandible (ca 90-100 kyrs BP, Israel) revisited: µ-CT and 3D reveal new pathological conditions.

OBJECTIVE: The aim of this paper is to provide new insights into growth patterns and health of Mousterian hunter-gatherers dated to ca. 90-100 kyrs B.P. from the Qafzeh site. MATERIALS: An almost complete skeleton, including the mandible from the Qafzeh site (Qafzeh 9). METHODS: Micro-CT and medical imaging techniques are used to explore inaccessible inner structures and to assess the etiology of identified lesion. RESULTS: Mandibular and dental conditions appear to be growth-related skeletal disorders. CONCLUSION: To our knowledge, Qafzeh 9 offers the earliest evidence of associated mandibular and dental pathological conditions (i.e. non-ossifying fibroma of the mandible, pre-eruptive intracoronal resorption and osteochondritis dissecans of the temporomandibular joint) among early anatomically modern humans, and more generally among Middle Palaeolithic hominins in Southwestern Asia. The diagnoses can be added to other growth-related disorders of skulls previously documented from the Qafzeh site (Tillier, 1999; Tillier et al., 2001), suggesting a quite high and exceptional incidence of these conditions compared to those of Palaeolithic populations. SIGNIFICANCE: Identification of pathological conditions in subadults from Eurasia dated to the Middle Palaeolithic is documented less often than in adult skeletons. Hence, new results from immature fossil remains are particularly important to our understanding of the past. SUGGESTIONS FOR FURTHER RESEARCH: This research will be extended to the rest of the skeleton, then to all Qafzeh specimens in order to broaden our understanding of this anatomically modern group.

Unusual spinal tuberculosis in an Avar Age skeleton (Csongrád-Felgyo, Ürmös-tanya, Hungary): A morphological and biomolecular study.

The paleopathological analysis of a well-preserved young adult female skeleton from the AD 7-8th century (Avar Age) in Hungary revealed multiple lytic lesions in all of the thoracic and lumbar vertebral bodies. The lesions were characterized by smooth marginal zones and space-occupying mass appearance. The considerable loss of spongy bone in the thoracolumbar vertebrae resulted in angular deformity and fusion, characteristic of the healing stage of TB. Osteolytic lesions were also observed on the vertebral processes, ribs and sternum. On the endocranial surface, abnormal blood vessel impressions were revealed, indicating some kind of meningitis. The X-ray and CT analysis of the affected bones detected abnormal structures and cystic zones of destruction. The lesions were however not always bordered by areas of increased density, which is typical in cystic TB. Vertebral remains were also subjected to biomolecular analysis in two different laboratories, which attested the presence of Mycobacterium tuberculosis complex (MTBC) DNA and supported the paleopathological diagnosis of TB. Spoligotyping analysis confirmed the presence of MTBC DNA and more specifically an infection caused by bacteria belonging to the M. tuberculosis lineage. This case study provides new data for the paleoepidemiology of TB in this geographical area and historical period, and draws attention to the great variability of TB lesions in the human skeleton.

Differential diagnosis of carpal and tarsal ankylosis on dry bones: Example from the catacomb of Saints Peter and Marcellinus (Rome, 1st-3rd century AD).

Bone ankylosis is a pathological feature that may occur in many chronic diseases involving joints. In paleopathology, it is therefore challenging to attribute such a change to a specific condition. Here, we illustrate the differential diagnosis by discussing the lesions observed on an incomplete skeleton from the Roman period, recovered from the catacomb of Saints Peter and Marcellinus (Rome, Italy). The skeleton exhibits several bone changes, including ankylosis on both feet and the left hand. The right tarsal fusion is accompanied by soft tissue ossifications involving the plantar aponeurosis and the tendinous structures connecting the great toe's proximal phalanx and sesamoid bones. The lesions recorded suggest that a spondyloarthropathy is the most likely cause of these extensive fusions.

Ramadan fasting with diabetes: an interview study of inpatients' and general practitioners' attitudes in the South of France.

AIM: The aim of this study was to evaluate attitudes in hospital inpatients and physicians towards Ramadan fasting and diabetes in Marseille. METHODOLOGY: This cross-sectional study was conducted during the three months prior to the month of Ramadan. A total of 101 patients (age: 57±17 years) and 101 general practitioners (GPs) were recruited into the study. RESULTS: The patients had low levels of education (52% illiteracy). Of the 101 patients, 52 continued to fast during Ramadan, and only 65 patients had discussed the matter with their GP. Of these, 36 were told that fasting was forbidden, but more than half (n=19) fasted despite the medical advice. Six patients thus experienced daily hypoglycaemia because they had continued to take their hypoglycaemic agent or insulin analogue at noon. Both inadequate education and religious attitudes were found to endanger patients during the fast: 15 patients skipped the meal scheduled before dawn, five of whom persisted in taking their sulphonylurea. Also, 27% of patients refused, in spite of daytime hypoglycaemia, to ingest anything orally to avoid breaking their fast. Among the GP population, medical knowledge of Ramadan fasting with diabetes was low, leading to medically unjustified negative advice for fasting and a lack of patient education on adjusting treatments. This particular situation weakened the patient-physician relationship. CONCLUSION: This study confirms the importance of Ramadan fasting for Muslim patients, and reveals a wide cross-cultural gap between GPs and their patients. Systematic advice on treatment adjustment needs to be given. For this reason, we encourage more sensitive care of these patients and more medical training for physicians.

An anthropometric study of relationships between the clival angle and craniofacial measurements in adult human skulls.

UNLABELLED: STATING BACKGROUND: The clival angle, between the ethmoidal plane and the clival plane, measures the cranial base angulation. Relations between cranial base angulation and facial patterns have been discussed and present contradictory evidence. The aim of this study is to determine whether correlations could be found between the clival angle and craniofacial measurements. METHODS: This study was carried out on a sample of 235 human skulls. Twenty landmarks were marked. The clival angle and 16 other variables were measured and compared using analysis of variance. RESULTS: Statistical analysis showed a relationship between the clival angle and six measurements (P < 0.05). There was a positive correlation between the clival angle and the cranial lengths, the nasomaxillary sagittal measurements and palatal length but the width of the foramen magnum had a negative correlation. No significant relationship was found between the clival angle and the cranial height and widths, the palatal width, the length of the foramen magnum and the mandibular measurements. CONCLUSIONS: The trends found in this study with regard to the craniofacial lengths show that the nasomaxillary complex in humans has a stable position lying beneath the anterior cranial base. Transversal, vertical and mandibular variables have a more independent relationship.

[Reliability of the Sauvegrain and Nahum method to assess bone age in a contemporary population]. / Fiabilité de la détermination de l'âge osseux par la méthode de Sauvegrain et Nahum.

PURPOSE: The Sauvegrain and Nahum method can be used to assess bone age in addition to methods based on hand and wrist radiographs in children between 9 and 15 years of age. The aim of this study was to evaluate the reliability of this method in a contemporary population. MATERIAL AND METHODS: Elbow radiographs taken for acute trauma in 106 patients (42 girls, 64 boys) aged from 9 to 15 years old were analyzed by four radiologists. Inclusion in the study required the absence of chronic disease and previous trauma as well as parental consent. RESULTS: There was no significant difference between the four observers. The differences between bone age (BA) and chronological age (CA) were 5+/-1 months for the study group, 3.5+/-9 months for the female group, and 6+/-12 months for the male group. Bone age was overestimated compared with chronological age. There was a good correlation between CA and BA (r = 0.84). CONCLUSION: The Sauvegrain and Nahum method seems to overestimate CA in a contemporary population.

Relationship between formation of the femoral bicondylar angle and trochlear shape: independence of diaphyseal and epiphyseal growth.

During hominin evolution, an increase in the femoral bicondylar angle was the initial change that led to selection for protuberance of the lateral trochlear lip and the elliptical profile of the lateral condyle. No correlation is found during ontogeny between the degree of femoral obliquity and of the prominence of the lateral trochlear lip. Might there be a relationship with the elliptical profile of the lateral condyle? On intact femoral diaphyses of juvenile humans and great apes, we compared the anteroposterior length of the lateral and medial sides of the distal metaphysis. The two diaphyseal pillars remain equal during postnatal growth in great apes, while the growth of the lateral pillar far exceeds that of the medial pillar in humans. Increase in bicondylar angle is correlated with disproportionate anteroposterior lengthening of the lateral pillar. The increased anteroposterior length of the lateral side of the metaphysis would contribute to increasing the radius of the curvature of the lateral condyle, but not to the projection of the lateral trochlear lip. The similar neonatal and adult femoro-patellar joint shape in humans prompted an assessment of the similarity during growth of the entire neonatal and adult epiphyses. We showed that the entire epiphysis undergoes drastic changes in proportions during postnatal growth. Finally, we emphasize the need to distinguish the cartilaginous phenotype and the ossified phenotype of the distal femoral epiphysis (and of any epiphysis) during postnatal growth. This crucial distinction applies to most postcranial bones, for they almost all develop following the process of endochondral ossification.

Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.

The distribution of HFE mutations was studied in patients from the French Basque Country with hereditary hemochromatosis (HH). The C282Y mutation was underrepresented but H63D seemed to demonstrate the highest prevalence when compared with other European countries. In addition, symptomatic HH was rarer in autochthonous Basques. This profile is interesting to consider in view of population genetics and should be associated with the search for non-HFE mutations.

Is there a 'Basque' profile regarding autosomal recessive deficiencies of coagulation factors?

When excluding haemophilia and von Willebrand disease, coagulation factors deficiencies constitute rare autosomal recessive disorders (<1 in 500,000) of less precisely defined epidemiology. We have reported herein the distribution of these entities in the French Basque Country, a genetic isolate of very old individualization with peculiar biological specificities. The prevalence of these disorders was markedly high, especially, as already shown, factor XI deficiency. This unusual profile needs to be discussed in the view of population genetics.

[Anatomic study of the anterior patellar groove in the fetal period]. / Etude anatomique du creusement de la trochlée fémorale chez le foetus.

PURPOSE OF THE STUDY: We performed a biometric analysis of the femoral trochlea in the fetus and compared our findings with those observed in adults in order to search for correlations with other biometric parameters of the femur. MATERIAL AND METHOD: Twenty-two fetuses (44 knees) conserved in formol and free of known orthopedic disease were studied. Fetal age ranged from 26 to 40 weeks. After anatomic dissection, digitalized images were used to obtain angle measurements with a dedicated software. Measurements made on the distal epiphyseal view were: anteroposterior dimension of the condyles, medial and lateral protrusion of the trochlear borders, difference in condyle height, length of the trochleal borders, alpha angle of the trochlear groove, trochlear slope. Measurements made on the AP femoral view were: femoral anteversion, length of the femoral neck, neck-shaft angle. Spearman's test was used to search for correlations. Results were compared with measurements obtained under the same conditions in a series of 32 adult knees published by Wanner. RESULTS: The trochlear alpha angle was 148 degrees (coefficient of variation 4%). The angle was greater than 150 degrees for 18 trochleae. The lateral border of the trochela was higher than the medial border in 37 of the 44 knees. There was no correlation with age and gender. Femoral anteversion was 27.01 degrees, with a high coefficient of variation (46%), and no correlation with the trochlear alpha angle. Comparison with measurements made on the adult knees revealed no significant difference. DISCUSSION: This is the first report of statistically significant biometric data of the fetal trochlea. The morphology of the lower femur observed during the third trimester of fetal live is the same as observed in adults. Morphological changes in the proximal femur occurring during growth do not appear to modify the morphology of the distal femur. The asymmetrical ingression of the patella into the trochlea, characteristic of modern man, is considered to result from bipedalism. Our study would suggest that the anatomic characteristics of the trochlea could have been integrated into the genoma during the course of evolution. This would be in favor of a genetic origin of trochlear dysplasia.

Comparison between direct clinical and digital photogrammetric measurements in patients with 22q11 microdeletion.

Thanks to recent advances in imaging and computing technology, photoanthropometry has become an increasingly helpful adjunct to obtain objective clinical evidence of morphologic abnormalities in patients with dysmorphic syndromes. The aim of this study was to evaluate measurements made using a new two-dimensional digital photogrammetry technique by comparison with direct clinical measurements. A total of 14 patients with 22q11 microdeletion were included in this study. There were seven females and seven males between 5 and 38 years of age. Sixteen direct clinical measurements were performed using a graduated anthropometric sliding caliper and angle meter. Photogrammetric measurements were made on digital photographs using a commercially available software package. After calibration to one in situ reference on frontal and profile views, photogrammetric measurements were compared to a total of 14 direct clinical measurements made in the same patients. Findings showed that photogrammetric measurements calibrated to an in situ reference were reliable especially on profile views. No statistical difference was found between 10 of the 14 measurements (P> 0.05) including eight of the nine measurements on profile views and two of the five measurements on frontal views. This study indicates that digital photogrammetry is a useful tool but there is still no reliable standard photographic measurement technique.

Distribution of haemophilia in the French Basque country.

Because peculiar profiles for some genetic haematological diseases have been described among Basques, we aimed to investigate the distribution of haemophilia among this specific population. Hence, we retrospectively assessed all the cases of factor (F) VIII and FIX deficiencies seen in the French Basque country during a 16-year period. Data on 41 patients with haemophilia (FVIII or FIX = 25%) were compiled. Incidence and prevalence for the whole population ranged within the classical limits (but with an unusually high A : B ratio) and tended to be slightly lower in autochthonous Basques (P = n.s.). Our data did not support significant differences in the distribution of this disease among French Basques.

[Craniofacial anthropometric patterns in genetic facial dysmorphism: methodology and applications]. / Etude des profils anthropométriques cranio-faciaux dans les dysmorphies faciales génétiques.

Craniofacial anthropometric has become an important tool in medical genetics. The method is simple, non-invasive, reliable, and inexpensive. To provide reliable measurements, the method must be conducted with a precise procedure by a trained physician. Anthropometric determination of craniofacial morphology is helpful in identifying and describing syndromes associated with classical techniques. Additional studies may involve new approaches to facial morphogenesis.

Limits of the Lamendin method in age determination.

This study shows that epithelial attachment level, used as age determination criterion in Lamendin's method, is not reliable for adults of either sex above the age of 49 years with periodontal diseases in any quadrant. The underestimation of calculated age increases from 7 to 19 years with chronological age. On the other hand, the present paper confirms the pertinence of dentin translucency as an age indicator in Lamendin's method.

Craniofacial anthropometric analysis in patients with 22q11 microdeletion.

Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between children (10 cases) and adults (5 cases) showed that craniofacial assessment was more demonstrative in children than in adults.

Postmortem assessment of fetal diaphyseal femoral length: validation of a radiographic methodology.

Depending on the general condition of fetal remains, forensic specialists might face difficulties concerning age estimation. Reference tables and regression equations are helpful devices in this task, although they are generally applied for complete fetuses or fetal remains including soft tissues. However, the problem of age estimation stays for osseous remains, both for entire bones and ossified parts, since most of the reference tables come from ultrasonographic measurements, which are not easily reproducible on fetal osseous remains. Furthermore, the ultrasonographic measurements contain slight errors in comparison to the real anatomical ones. This study describes a radiographic protocol and a measurement technique that facilitate and improve bone measurements, and therefore, facilitate age estimation, too. A qualitative criterion, namely a clear-cut bony endplate, was defined and tested. Its reliability (repeatability and reproducibility) turned out to be good, showing nonsignificative differences to the threshold of 0.05, with average errors of 0.26 and 0.44 mm respectively. Moreover, concerning the test of eventual size differences between the right and left femurs showed a P value < 0.0001. The test of the qualitative criterion was based on the comparison of the radiographic in situ femur measurements and the radiographic measurements of the same bones after dissection. The results were satisfactory, since an average error of 0.58 mm was obtained, which did not give any significant differences to the threshold of 0.05. It was concluded that this methodology provides an easy and precise new measurement tool for forensic practice, and can allow us to establish some nonultrasonographic tables, which fit our population.

[Expression of sexual dimorphism in the fetal pelvic girdle]. / Expression du dimorphisme sexuel sur le bassin du foetus.

The objective of this study was to analyse the development of the foetal pelvis in order to define normal anatomic reference values as a function of gender and gestational age. The study population included 500 stillborn foetuses between the gestational ages of 18 and 41 weeks. Those foetuses without known demographic histories were strictly excluded. For each case studied, an AP radiograph was performed with the following parameters measured by two independent observers: pelvic width, inter-iliac width, inter-sciatic nodes, inter-pubic width and bi-ischial width. The correlation between these radiographic measurements and the gestational age as well as the gender was analysed. The result indicated that the inter-ischiatic distance is significantly greater in the female foetus after the 26-27th week of gestation (P < 0.0062). Standard growth for the female and the male foetal pelvis is proposed with potential application in the study of normal and pathological development of the foetus.

Molecular evidence for different stages of tuberculosis in ancient bone samples from Hungary.

This paleomicrobiologic study was conducted on osseous tissue specimens from ancient Hungarian skeletal samples from the 7-8th and the 17th centuries AD with typical macromorphologic evidence of osseous tuberculosis (n = 3), morphologic alterations probably due to tuberculosis (n = 6), or with nontypical osseous changes of vertebral bodies suggestive of inflammatory reaction (n = 5). From these bone samples, DNA was extracted and amplified by polymerase chain reaction (PCR) by using various primer pairs recognizing DNA segments of different mycobacterial species. To confirm specificity of the analysis, the amplification products of several samples were subjected to restriction enzyme digestion and/or direct sequencing. Of the analyzed 14 cases, 8 were unambiguously positive for mycobacterial DNA of the Mycobacterium tuberculosis complex, as shown by the amplification of the IS6110 sequence. In 13 cases we found a PCR product with primers specific for the 65-kDa antigen gene, including 2 cases without genomic DNA. We conclude that the application of other mycobacterial DNA primers may reveal contamination of bones with atypical saprophytic mycobacteria. A positive result for typical mycobacteria was seen in 2 of 3 cases with typical morphologic signs of tuberculosis and amplifiable DNA, in 3 of 6 probable cases, but also in 3 of 6 cases with nontypical bone changes. This indicates that minor osseous reactions of the surface of vertebral bodies may be due-at least in several cases-to infections with bacteria of the M. tuberculosis complex. In these cases the disease may have proceeded rapidly, and the morphologic osseous changes may represent "early" stages of tuberculous infection of the vertebrae.

[Sagittal equilibrium of the pelvis: analysis of the inclination of the ischio-pubic ramus from the horizontal]. / Equilibre sagittal du bassin : analyse de l'inclinaison de la branche ischio-pubienne par rapport à l'horizontale.

PURPOSE OF THE STUDY: The sagittal equilibrium of the spine and pelvis has been examined in numerous studies looking for the origin of certain posture disorders of the spine and the cause of lower back pain. Sagittal x-rays of the pelvis provide an analysis of the degree of inclination of the pelvis from the horizontal and the bi-coxo-femoral axis and information on the form of the sacrum. There is no radiographic parameter however which analyzes the transition between the pelvis-sacrum component and the femoral component, i.e. the periacetabular region. In the sagittal plane, a line tangent to the ischio-pubic ramus would appear to best reflect the orientation of the periacetabular region and the muscular forces applied to this region. The purpose of this work was to analyze the inclination of the ischio-pubic ramus from the horizontal and its relations with other sagittal radiographic parameters in a population of growing children with spinal disorders. MATERIALS AND METHOD: The study population included 100 children with spinal disorders who underwent a teleradiographic series with lateral view in the upright position. Most of the children had scoliosis (80 cases), 7 had kyphoscoliosis, 4 isthmic spondylolysis with spondylolisthesis, 1 spondylodiscitis and 4 lower back pain. Mean age was 13 years (range 2.5-22 years). We measured 7 radiographic parameters: lumbo-sacral angle, slope of the sacrum, pelvic version, incidence, thickness, overhang, and inclination of the ischio-pubic ramus from the horizontal. Data were analyzed to search for correlations between radiographic parameters and between radiographic parameters and clinical features. RESULTS: Mean inclination of the ischio-pubic ramus from the horizontal was 33.9 degrees (SD =5.9 degrees ). The only positive statistical correlation between the inclination of the ischio-pubic ramus and the clinical data was a relationship with the position of the arms compared with the horizontal (p =0.04). There was no correlation with age, sex, ethnic background, etiology. There was no correlation between the inclination of the ischio-pubic ramus and the other radiographic parameters (coefficient r ranging from 0.06 to 0.43). DISCUSSION: The interdependence of sagittal radiographic parameters of the pelvis and the spine have been largely demonstrated. Certain pathological situations (isthmic spondylolysis with spondylolisthesis, lower back pain, etc.) can be explained by the value of these parameters, particularly incidence. The inclination of the ischio-pubic ramus from the horizontal reflects the periacetabular region. When analyzed in the sagittal plane, it was found to be a more stable parameter, independent of most clinical criteria (particularly age, and etiology) and of the other radiographic parameters studied. The only determining factor appears to be acquisition of the upright position. The consistency of this parameter constrasts with the variability of the other radiographic parameters of the pelvis and the spine, particularly incidence, although the inclination of the ischio-pubis ramus is an expression of a region different than the pelvis. This study suggests that the periacetabular region plays a key role in acquisition of the upright position in humans. The periacetabular region would be a fixed point around which the lower limbs and spine describe varying orientations.

[Syphilis in Europe in antiquity: the fetus of Costebelle and other new gifts from osteoarchaeology]. / La syphilis en Europe dans l'Antiquité: le foetus de Costebelle et les autres nouvelles données ostéoarcheologiques.

Tomb Nr 1 of the ancient cemetery of Costebelle, attributed to the 4th century AD, contained the skeleton of a pregnant female and that of her foetus in the pelvic cavity. This was aged seven months, was almost complete and showed an exceptional example of bony lesions suggestive of infection. Its etiology suggested the likelihood of early congenital syphilis. This case raises the question of the theory of the importation of venereal disease into Europe, about a 1000 years later, by the crews of Christopher Columbus. The foetus of Costebelle is not an isolated example : other osteo-archaeological findings make a case for the existence of a treponeme (venereal or non venereal) in Europe before 1493.