Associations of the interleukin-1 gene locus polymorphisms with risk to hip and knee osteoarthritis: gender and subpopulation differences.

Genetic predisposition to the complex hereditary disease like osteoarthritis (OA) of the large joints (hip and knee) includes the interleukin-1 gene (IL-1) cluster on chromosome 2. Using a case-control study with 500 OA patients (240 knee and 260 hip OA patients, all with joint replacement), we analysed frequencies of IL-1 gene cluster polymorphisms in Croatian Caucasian population. The control samples came from 531 healthy individuals including blood donors. We genotyped two single nucleotide polymorphisms in the IL-1 gene locus at IL-1A (-889, C>T, rs1800587) and IL-1B (+3594, C>T, rs1143634) and compared their frequencies between patients and controls. We predicted haplotypes by combining current data with our previous results on gene polymorphisms (IL-1B, rs16944 and the IL-1 receptor antagonist gene [IL-1RN] variable number tandem repeat [VNTR]) for the same population. Haplotype analyses revealed gender disparities and showed that women carriers of the 1-2-1-1 haplotype [IL-1A(rs1800587) - IL-1B(rs1143634) - IL-1B(rs16944) - IL-1RN(VNTR)] had sixfold lower risk to develop knee OA. However, carriers of the 1-1-1-2 haplotype of both sexes had over twofold higher predisposition to hip OA. Our results differ from some earlier studies in Caucasian subpopulations, which may be due to the fact that this is the first study to separate genders in assessing the IL-1-locus genetic risk of OA. The results suggest that inflammatory mediators like IL-1 might be implicated in the pathogenesis of primary OA in large joints and that as yet unidentified gender-specific factors exist in a Croatian Caucasian population.

Unusual consecutive sacral stress fractures in a female distant runner: a case report.

Sacral stress fractures are rare overuse injuries predominantly perceived in female long-distance runners. Our case report describes left-sided sacral wing stress fracture followed by contralateral sacral wing fracture after return to running. A 21-year-old female amateur long-distance runner presented with nonspecific low back and left buttock pain. Plain radiograph at presentation was unremarkable. Magnetic resonance imaging (MRI) revealed extensive bone marrow oedema in the cranial part of the left sacral wing and oblique fracture line. After six weeks of moderate training and two months of tailored running program she felt sharp pain in her right buttock during landing on her right leg. MRI confirmed contralateral sacral wing stress fracture. Additional two-month program to correct lumbar hyperlordotic posture with relaxation techniques and stretching of quadratus lumborum, psoas, multifidus and rectus femoris muscles was carried out. Strengthening of the abovementioned muscles was also done together with abdominal wall muscles and gluteals to stabilize the lumbar spine. She regained full level of training six months after the second fracture. Two years after the second stress fracture of the sacral wing she is free of pain, running about 60 to 70 km per week. Despite rapid rehabilitation program after first sacral stress fracture, contralateral stress fracture occurred. After a few months of additional conditional training and strengthening of lumbar, abdominal and pelvic muscles she regains her long-distance running including four marathons without obstacles. From this case we can assume that following proper rehabilitation program with correction of hyperlordotic posture sacral stress fractures can be avoided.

A case of pathological rib fractures: focal osteolysis or osteoporosis? / Un caso de fracturas patológicas de costillas: osteólisis focal u osteoporosis focal?

This paper reports on a unique, previously unreported, successful outcome in the case of a patient with focal osteolytic lesions of the ribs as a first sign of osteoporosis. The lesions were detected by chance after acute cough-induced rib fractures were seen on plain chest radiographs. The diagnosis had to be approached as a diagnosis of exclusion since known causes of the osteolytic process had to be eliminated. The authors describe multiple focal osteolytic lesions with rib fractures appearing in a pattern that could be confused with metastases. Laboratory results were normal. Final diagnosis was based on plain radiography, bone scan and bone densitometry. Pharmacomedical treatments for osteoporosis were applied. The patient was observed between the year 2000 and 2005. Five years later, radiological and bone scintigraphy revealed resolution of the lesion. We conclude that osteoporosis should be included in the differential diagnosis of asymptomatic focal osteolysis of the ribs with rib fractures as a complication of acute cough. The case suggests that focal osteolytic lesions of the ribs may regress over time and become scintigraphically inactive.

Este trabajo presenta la evolución clínica exitosa, única, y no reportada con anterioridad, del caso de un paciente con lesiones osteolíticas focales en las costillas, como primera señal de osteoporosis. Las lesiones fueron detectadas por casualidad, luego que en unas radiografías simples de tórax, se observaran fracturas de las costillas inducidas por tos aguda. El diagnóstico tuvo que ser abordado como diagnóstico de exclusión, ya que las causas conocidas del proceso osteolítico tenían que ser descartadas. Los autores describen las lesiones osteolíticas focales múltiples con fracturas de costilla presentes en un patrón que podría confundirse con metástasis. Los resultados de laboratorio fueron normales. El diagnóstico final se basó en la radiografía simple, escaneo óseo y densitometría ósea. Se aplicaron tratamientos fármaco-médicos para la osteoporosis. El paciente estuvo sujeto a observación entre el año 2000 y el 2005. Cinco años más tarde, la centellografía ósea y radiológica reveló la resolución de la lesión. Concluimos que la osteoporosis debía incluirse en el diagnóstico diferencial de la osteólisis focal asintomática de las costillas con fracturas de costillas, como complicación de la tos aguda. El caso sugiere que las lesiones osteolíticas focales de las costillas pueden experimentar una regresión con el tiempo y hacerse centellográficamente inactivas.

Evaluation of a tibial torsiometer applicable to clinical practice.

This study evaluated a new tibial torsiometer that is universally applicable to all limb sizes and requires no special training, jigs, or radiographic equipment. To compare the reliability of measurements obtained with the torsiometer, 160 tibias were evaluated with both the torsiometer and computed tomography. Results for both methods were identical in 51 tibias, within 1 degrees in 66 tibias, and within 2 degrees in 43 tibias. The difference between the two methods was not significantly different. No significant difference was found among testers. This device should prove to be useful for the quantitation of tibial torsion.

Giant anterior sacral meningocele presenting as bacterial meningitis in a previously healthy adult.

Meningocele may be asymptomatic and incidentally discovered. Presenting as a retrorectal mass, sacral meningocele may produce urinary, rectal, and menstrual pain. Anterior sacral meningocele may be the cause of tethered cord syndrome. This article presents a case of a previously healthy 39-year-old man with large meningeal herniation that occupied the entire pelvis who developed symptoms of bacterial meningitis. A 39-year-old man was admitted with fever, chills, headache and photophobia. Escherichia coli was isolated from cerebrospinal fluid culture. Moderate improvement regarding meningeal symptoms was noted due to intravenous antibiotic therapy, but intense pain in the lower back associated with constipation, fecal and urinary incontinence, and saddle anesthesia developed. Abdominal ultrasound was negative. Plain radiographs and computed tomography demonstrated sacral bone defect and retrorectal expansive mass. MRI confirmed anterior sacral meningocele with cord tethering. After posterior laminectomy and dural opening, communication between meningocele and intrathecal compartment was obliterated. Computed tomography-guided percutaneous drainage through the ischiorectal fossa was performed to treat residual presacral cyst. Delayed diagnosis in our patient was related to misleading signs of bacterial meningitis without symptoms of intrapelvic expansion until the second week of illness. In our patient, surgical treatment was unavoidable due to resistive meningitis, acute back pain, and symptoms of space-occupying pelvic lesion. Neurosurgical approach was successful in treatment of meningitis and neurological disorders. Computed tomography-guided evacuation of the residual retrorectal cyst was less invasive than laparotomy, resulting in normalization of defecation and miction despite incomplete evacuation. Further follow-up studies may provide insight into the most effective treatment of such conditions.

A case of pathological rib fractures: focal osteolysis or osteoporosis?

This paper reports on a unique, previously unreported, successful outcome in the case of a patient with focal osteolytic lesions of the ribs as a first sign of osteoporosis. The lesions were detected by chance after acute cough-induced rib fractures were seen on plain chest radiographs. The diagnosis had to be approached as a diagnosis of exclusion since known causes of the osteolytic process had to be eliminated. The authors describe multiple focal osteolytic lesions with rib fractures appearing in a pattern that could be confused with metastases. Laboratory results were normal. Final diagnosis was based on plain radiography, bone scan and bone densitometry. Pharmacomedical treatments for osteoporosis were applied. The patient was observed between the year 2000 and 2005. Five years later radiological and bone scintigraphy revealed resolution of the lesion. We conclude that osteoporosis should be included in the differential diagnosis of asymptomatic focal osteolysis of the ribs with rib fractures as a complication of acute cough. The case suggests that focal osteolytic lesions of the ribs may regress over time and become scintigraphically inactive.

Primary leiomyosarcoma of the tibia: five years without recidivism

Primary leiomyosarcoma of the bone is a rare malignancy. Clinical follow-up suggests that primary osseous leiomyosarcoma has an aggressive biologic behaviour with poor survival time. We report a case of primary leiomyosarcoma arising from the proximal metaphysis of the right tibia of a 55-year old woman with a long follow-up period, without recidivism. Primary leiomyosarcoma has to be considered as a differential diagnostic possibility in the case of bone tumours seen on routine initial plain radiographs as lytic lesions. If the tumour has been adequately excised at the time of diagnosis, as in the present case, with adjuvant therapy protocol, the long-term prognosis of such an aggressive tumour can be exceptionally good.

El leiomiosarcoma primario del hueso es un tumor maligno raro. El seguimiento clínico sugiera que el leiomiosarcoma óseo primario tiene un comportamiento biológico agresivo con escaso tiempo desobrevivencia. Reportamos un caso de leiomiosarcoma primario proveniente de la metáfisis proximal de la tibia derecha de una mujer de 55 años de edad con un largo período de seguimiento, sin recidivas. El leiomiosarcoma tiene que ser considerado una posibilidad de diagnóstico diferencial en el caso detumores óseos observados en radiografías simples iniciales de rutina como lesiones líticas. Si el tumorha sido debidamente extirpado en el momento del diagnóstico – como en el caso presente – con un protocolo de terapia adyuvante, la prognosis a largo plazo de un tumor tan agresivo puede ser excepcionalmente buena.

Primary leiomyosarcoma of the tibia--five years without recidivism.

Primary leiomyosarcoma of the bone is a rare malignancy. Clinical follow-up suggests that primary osseous leiomyosarcoma has an aggressive biologic behaviour with poor survival time. We report a case of primary leiomyosarcoma arising from the proximal metaphysis of the right tibia of a 55-year old woman with a long follow-up period, without recidivism. Primary leiomyosarcoma has to be considered as a differential diagnostic possibility in the case of bone tumours seen on routine initial plain radiographs as lytic lesions. If the tumour has been adequately excised at the time of diagnosis, as in the present case, with adjuvant therapy protocol, the long-term prognosis of such an aggressive tumour can be exceptionally good.

Rapid idiopathic osteolysis of the humeral head and clavicle / Osteólisis idiopática rápida de la cabeza del húmero y la clavícula

Idiopathic osteolysis is a very rare bone condition of unknown origin. The length of the illness usually lasts for several years. The purpose of this paper is to point out the possibility of severely rapid progression of idiopathic osteolysis and to contribute to a better understanding of the natural history of Gorham-Stout disease. We report the case of a 58-year old man whose right humeral head and lateral clavicle had disappeared as a result of massive osteolysis observed only six months after onset of the symptoms. Such rapid progression has not been reported previously. His physical examination was otherwise normal. Serum interleukin-6 (IL-6) was elevated and the other laboratory tests were normal. Radiography, computed tomography scan, bone scan, and magnetic resonance imaging (MRI) evaluation revealed extensive destruction of the right humeral head and lateral clavicle involving the acromioclavicular joint. Although the histologic features could not be confirmed because the patient refused a biopsy, it was felt that the patient satisfies the other diagnostic features of Gorham-Stout disease. Follow-up examinations revealed no further bone or soft-tissue involvement. Gorham-Stout disease should be considered in the differential diagnosis of such severely rapid progression of lytic bony lesions.

La osteólisis ideopática es una condición muy rara del hueso, de origen desconocido. Usualmente la enfermedad tiene una duración de varios años. El propósito de este trabajo es señalar la posibilidad de una progresión severamente rápida de la osteólisis idiopática, y contribuir a una mejor comprensión de la historia natural de la enfermedad de Gorham-Stout. Reportamos un caso de un hombre de 58 años cuya cabeza humeral derecha así como la clavícula lateral habían desaparecido como resultado de una osteólisis masiva observada sólo seis meses después de la presentación de los síntomas. Una progresión tan rápida no había sido nunca reportada previamente. Por lo demás, su examen físico fue normal. La interleukina-6 de suero (IL-6) fue alta, y las otras pruebas de laboratorio fueron normales. La radiografía, la tomografía computarizada (escáner CT), tomografía de hueso, y el examen de imágenes por resonancia magnética (MIR) revelaron una destrucción extensa de la cabeza humeral derecha y la clavícula lateral con involucración de la articulación acromioclavicular. Aunque los rasgos histológicos no pudieron ser confirmados porque el paciente rehusó una biopsia, se entendió que el paciente satisfacía suficientemente las otras características del diagnóstico de la enfermedad de Gorham-Stout.

Rapid idiopathic osteolysis of the humeral head and clavicle.

Idiopathic osteolysis is a very rare bone condition of unknown origin. The length of the illness usually lasts for several years. The purpose of this paper is to point out the possibility of severely rapid progression of idiopathic osteolysis and to contribute to a better understanding of the natural history of Gorham-Stout disease. We report the case of a 58-year old man whose right humeral head and lateral clavicle had disappeared as a result of massive osteolysis observed only six months after onset of the symptoms. Such rapid progression has not been reported previously. His physical examination was otherwise normal. Serum interleukin-6 (IL-6) was elevated and the other laboratory tests were normal. Radiography, computed tomography scan, bone scan, and magnetic resonance imaging (MRI) evaluation revealed extensive destruction of the right humeral head and lateral clavicle involving the acromioclavicular joint. Although the histologic features could not be confirmed because the patient refused a biopsy, it was felt that the patient satisfies the other diagnostic features of Gorham-Stout disease. Follow-up examinations revealed no further bone or soft-tissue involvement. Gorham-Stout disease should be considered in the differential diagnosis of such severely rapid progression of lytic bony lesions.

Comparison in regression of femoral neck anteversion in children with normal, intoeing and outtoeing gait--prospective study.

We studied the 950 children for spontaneous regression of femoral neck anteversion (FNA) angle. The children were divided in three groups. The first group comprised children with normal gait, second group comprised children with intoeing gait and the third group children with outtoeing gait. All children were seen first time at age seven. Second examination was performed at age 10 and the third at age 14. The FNA was measured using ultrasound techniques. The mean FNA angle in the first group was 24 degrees, and decreased during examined period for average 1 degree per year. The FNA angle in the second group was on average 42 degrees at age 7 and decreased average 1.6 degrees per year. FNA angle in group of children with outtoeing gait was average 13 degrees and did not significantly change during all three examinations. We found that medial and lateral rotation in the extended hip correlate with FNA angle as well as differences between medical and lateral rotation. On the third examination percentage of children with intoeing gait decreased from 12.8% to 1%, while number of children with outtoeing gait did not change significantly during examined period.

Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up.

A case of a male patient with Kniest dysplasia is reported. The patient's growth and the development and evolution of the patient's abnormalities were tracked for a 30 year period, starting at the patient's birth. The clinical and radiographic features during this period, along with the differential diagnosis of Kniest dysplasia, are discussed. Femoral capital epiphyses and the presence of a cataract in one eye were noted from the early stages of the patient's life. The patient's final height was 165 cm. We believe this to be the first long-term follow up of this condition.

Femoral anteversion related to side differences in hip rotation. Passive rotation in 1,140 children aged 8-9 years.

We assessed whether the range of passive hip motion is reliable for predicting abnormal femoral anteversion. We measured the passive medial and lateral rotation in extension in both hips of 1,140 children between 8 and 9 years of age. The children were divided into 3 groups: group 1: difference between lateral and medial rotation less than 10 degrees; group 2: medial rotation more than 10 degrees greater than the lateral; group 3: lateral rotation more than 10 degrees greater than the medial. Group 1 comprised 90% of the children, whereas 8% belonged to group 2 and 2% to group 3. The angle of femoral neck anteversion was measured in 57 children from the first group, in 67 from the second and in 24 children from the third group, using biplane radiography. The mean anteversion angles in the 3 groups were 24 degrees, 36 degrees and 14 degrees, respectively. To predict an abnormally high anteversion angle (above mean +2SD), the difference between medial and lateral rotation must be 45 degrees or more, whereas an abnormally low anteversion angle (lower than mean -2SD) could be predicted when the lateral rotation was at least 50 degrees higher than the medial rotation.