A rare presentation of the Klinefelter's syndrome

A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and siblings. His laboratory tests showed high levels of FSH and normal levels of LH and testosterone. With regards to all these findings, we suspected that there might be an occult Klinefelter's syndrome. So, we made his karyotype that showed a 47XXY pattern. Because there are only a few number of cases that have occult Klinefelter's syndrome in the basis of chronic renal failure, we decided to report this case

Frequency of pathology in a large natural sample from Natural Trap Cave with special remarks on erosive disease in the Pleistocene

The search for the antiquity of erosive arthritis was the subject of an international conference (1). Although isolated examples have been reported from the anthropologic record (2, 3), systemic population studies have represented a newer approach (4). Recognition of erosive disease, osteoarthritis and DISH, as isolated observations, does not allow perspective with respect to population significance..

Decompression syndrome and diving behavior in Odontochelys, the first turtle

Odontochelys semitestacea, the oldest known turtle, from the Late Triassic of China, shows a pathology. Sharply defined, focal depressions were noted on the articular surfaces of both humeri, documenting avascular necrosis. Diving habits of Mesozoic marine reptiles have been characterized on the basis of this localized form of bone death attributed to decompression syndrome. Pursuit by a predator was likely the cause of dangerously rapid depth changes by swimming turtles. The prevalence of avascular necrosis decreased geometrically from the Cretaceous to the Pleistocene. This study suggests that the habit of repetitive diving in turtles was already present in the Late Triassic, but that protective physiological and behavioral adaptations had not yet evolved

“Like a virgin”: Absence of rheumatoid arthritis and treponematosis, good sanitation and only rare gout in Italy prior to the 15th century

Origin of disease has special interest for rheumatologists, for whom absence of etiologic information generally mandates empirical approaches. Hypotheses have been offered that rheumatoid arthritis and syphilis were New World diseases, only transmitted to the Old World subsequent to the passages of Christopher Columbus (1-7). The pertinent search is for polyarticular erosive disease, sparing axial joints (8-10) and for oligostotic or polyostotic periosteal reaction (3, 4). The phenomenon of interest is not the focal periosteal reaction that occurs secondary to trauma (9, 10), but rather the more diffuse reaction indicative of pres- “Like a virgin”: Absence of rheumatoid arthritis and treponematosis, good sanitation and only rare gout in Italy prior to the 15th century “Come una vergine”: in Italia, niente artrite reumatoide o sifilide, solo poca gotta, e buona sanità prima del XV secolo BM. Rothschild1, A. Coppa2, PP. Petrone3 1Arthritis Center of Northeast Ohio, Youngstown, OH; Department of Internal Medicine, Northeast Ohio Universities College of Medicine, Rootstown, OH; Department of Biomedical Engineering, University of Akron, Akron, OH; Department of Earth Sciences, Carnegie Museum of Natural History, Pittsburgh, PA; 2Dipartimento di Biologia Animale e dell'Uomo, Sede di Antropologia, Università di Roma “La Sapienza”, Roma; 3Museo di Antropologia, Centro Musei di Scienze Naturali, Università di Napoli “Federico II”, Napoli RUBRICA LA REUMATOLOGIA NELLA LETTERATURA… Reumatismo, 2004; 56(1):61-66 Reumatismo, 2004; 56(1):61-66 RIASSUNTO Obiettivi: Lo studio è stato condotto con lo scopo di compiere alcune valutazioni e di verificare, anche indirettamente, una serie di ipotesi: 1. che l’artrite reumatoide e la sifilide siano malattie originate nelle Americhe e che siano state trasmesse nel Vecchio Continente successivamente ai viaggi di Cristoforo Colombo; 2. che l’intossicazione da piombo, causa di iperuricemia e quindi di gotta, fosse frequente ai tempi dell’antica Roma; 3. valutare lo stato di salute pubblica in Italia prima del XV secolo, attraverso la stima della prevalenza delle spondiloartriti; 4. valutare la frequenza dei traumi ossei nell’Italia antica, grazie all’analisi dei fenomeni di reazione periosteale focale. Metodi: Gli scheletri provenienti da diversi siti archeologici di epoca diversa (età del bronzo/peste del 1485-86) sono stati esaminati macroscopicamente per documentare segni di reazione periosteale focale e caratteristiche peculiari di artrite reumatoide, gotta, spondiloartriti e treponematosi ossea. Risultati: L’esame di 688 campioni ha rivelato una bassa frequenza di reazione periosteale con distribuzione focale (perlomeno nel periodo compreso fra 3400-700 anni fa), con una brusca impennata nel XV secolo. Una reazione periosteale di tipo diffuso è stata messa in evidenza solo in singoli soggetti con un quadro isolato di osteoartropatia ipertrofica. Le erosioni ossee sono risultate poco frequenti e sempre con distribuzione oligo-articolare. Non si sono osservate erosioni marginali, a parte un unico caso, a livello metatarsale, con le caratteristiche tipiche della gotta. Erosioni subcondrali, fusione di articolazioni periferiche e coinvolgimento dello scheletro assiale suggestive di spondiloartrite sono state rilevate nell’1-3% dei campioni esaminati, indipendemente dalla datazione del sito archeologico. Conclusioni: L’Italia, prima di Cristoforo Colombo, si presentava “come una vergine”. Malattie come artrite reumatoide ed infezioni da treponema (in particolare sifilide) non sarebbero state presenti, fornendo così un’ulteriore prova che si tratta di forme morbose originarie delle Americhe. Segni di reazione periosteale dovuta a traumi minori erano rare prima del XV secolo, ovvero ai tempi dell’epidemia di peste del 1485-86. Ciò suggerisce il ruolo potenziale di attività domestiche, piuttosto che di quelle esterne, nello sviluppo di questo particolare tipo di lesione. L’ipotesi di un ruolo dell’intossicazione da piombo come cofattore causale nel declino dell’impero romano appare poco probabile, data la rarità dei casi di gotta osservati. La frequenza di spondiloartriti è risultata ridotta rispetto a quella che si osserva su popolazioni in precarie condizioni igienico-sanitarie, lasciandoci così intuire buoni standard di salute pubblica nell’Italia di quei tempi. Indirizzo per la corrispondenza: Prof. Dr. Bruce M. Rothschild The Arthritis Center of Northeast Ohio, 5500 Market Street, Youngstown, OH 44512 e-mail: [email protected] ence of a systemic disease (e.g., treponemal or hypertrophic osteoarthropathy) (9-11). Four thousand years of Italian cemeteries provide fertile ground to assess those hypotheses

"Like a virgin": Absence of rheumatoid arthritis and treponematosis, good sanitation and only rare gout in Italy prior to the 15th century

Objectives: This study was conducted to test several hypotheses: 1. That rheumatoid arthritis and syphilis were New World diseases, only transmitted to the Old World subsequent to the passages of Christopher Columbus; 2. To indirectly test the hypothesis that lead poisoning was prevalent in Roman Italy by looking for its byproduct, gout; 3. To test the hypothesis of compromised sanitation in ancient Italy, on the basis of spondyloarthropathy frequency; and 4. To assess variation of trauma frequencies in ancient Italy, by examining frequency of focal periosteal reaction. Methods: Skeletons from sites ranging from the Bronze Age to the Black Plague epidemic of 1485-1486 were macroscopically evaluated for focal periosteal reaction and for the cardinal signs of rheumatoid arthritis, treponemal disease, gout and spondyloarthropathy. Results: Examination of 688 individuals revealed low frequency of focally distributed periosteal reaction (bumps) in sites dated from the 3400-700 years before present, sharply increasing in the 15th century. Diffuse periosteal reaction was present only as isolated occurrences secondary to hypertrophic osteoarthropathy and sabre shin reaction was notably absent. Erosive disease was uncommon and always oligoarticular in distribution. No marginal erosions were present, with the exception of an isolated metatarsal with classic overhanging edge sign of gout. Subchondral erosions, peripheral joint fusion and axial skeletal nvolvement identified spondyloarthropathy frequencies of 1-3%, independent of the antiquity of the site. Conclusions: Italy, prior to Columbus was like a virgin. Rheumatoid arthritis and treponemal disease (specifically syphilis) were not present, further supporting the contention that they are New World-derived diseases. Periosteal signs of minor trauma were rare prior to fifteenth century plague times. This suggests a potential role of domestic (as opposed to outside environment activities) in is development. The hypothesis for a role of lead poisoning in the demise of the Roman Empire is falsified by the rarity of gout. The frequency of spondyloarthropathy was significantly below that found in sanitarily challenged populations suggesting high standards of hygiene in ancient Italy

Pathological phalanges in a camarasaurid sauropod dinosaur and implications on behaviour

Several types of pathological bony overgrowth are known from various dinosaur taxa but, except for stress fractures, are rarely reported from appendicular elements. Herein we describe pathological manual and pedal phalanges of a camarasaurid sauropod (SMA 0002), which show features rarely recognised in non-avian dinosaurs. They include lateral osteophytes and smoothing of phalangeal articular surfaces, a deep pit, proximal enthesophytes in pedal unguals, distal overgrowth associated with a fracture, and a knob-like overgrowth lateral to the distal condyles of a pedal phalanx. Their causes were assessed by means of visual examination, CT scans, and bone histology, where possible. The lateral osteophytes are interpreted as symptoms of osteoarthritis. The ossified tendon insertions in the unguals are most probably the result of prolonged, heavy use of the pedal claws, possibly for scratch-digging. The distal overgrowth is interpreted to have developed due to changed stress regimes, and to be the cause for the fracture. The deep pit represents most likely a case of osteochondrosis, whereas the knob-like overgrowth likely represents a post-traumatic phenomenon not previously reported in dinosaurs. The study confirms that a rigorous assessment of pathologies can yield information about behaviour in long-extinct animals