Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report the clinical and radiological description of a young girl with a third heterozygous FGF9 variant, NM_002010.2:c.427A>T;p.(Asn143Tyr), which interestingly, is located at the same amino acid as the well characterized spontaneous Eks mouse variant. We also compare the genotype: phenotypes observed between humans and mice with SYNS.

[Comparative results of total knee arthroplasty according to age]. / Comparación de resultados en función de la edad en pacientes ancianos con artroplastia total de rodilla.

OBJECTIVE: Surgical treatment of osteoarthritis with total knee arthroplasty (TKA) has become a routine technique in patients of "almost" any age. The aim of the present study was to compare the results of TKA according to patient age. MATERIAL AND METHODS: A prospective study was performed in 112 patients with osteoarthritis who underwent TKA from March 1st, 2007 through May 31st, 2007. There were two groups; the first comprised 61 patients aged 65- to 75-years-old and the second included 51 patients aged 76- to 85-years-old. Sociodemographic data and health system use were evaluated. The results were evaluated by using the Hospital Special Surgery (HSS) scale, the SF-36 health survey questionnaire, the visual analogue scale (VAS) for pain, and joint measurement with manual goniometrics. The patients were evaluated before surgery and at 6 months after surgery. RESULTS: No significant differences were observed between the two groups. Complications and length of hospital stay were similar in both groups. A greater proportion of older patients were referred to a rehabilitation hospital but this difference was not statistically significant. CONCLUSIONS: The results of the present study were similar to those of other studies that found that greater age does not lead to worse functional results.

Comparación de resultados en función de la edad en pacientes ancianos con artroplastia total de rodilla / Comparative results of total knee arthroplasty according to age

Objetivo: El tratamiento quirúrgico de la gonartrosis mediante artroplastia total de rodilla (ATR) se ha convertido en una técnica habitual en pacientes de «casi» cualquier edad. El objetivo de este trabajo es comparar los resultados de un grupo de pacientes intervenidos mediante ATR en función de la edad. Material y métodos: Se realizó un estudio pospectivo en 112 pacientes intervenidos de gonartrosis mediante ATR entre el 1 de marzo de 2007 y el 31 de mayo de 2007. Se hicieron 2 grupos, el primero con 61 pacientes de 65 a 75 años de edad y el segundo de 51 pacientes con edades comprendidas entre los 76 y los 85 años. Evaluamos los datos sociodemográficos y de utilización del sistema de salud. Se valoraron los resultados mediante la escala Hospital Special Surgery (HSS), el cuestionario de salud SF-36, la escala visual analógica (EVA) para el dolor y el balance articular con goniómetro manual. Se hicieron 2 valoraciones, una antes de la cirugía y otra al sexto mes. Resultados: No encontramos diferencias estadísticamente significativas entre ambos grupos. Las complicaciones fueron similares, al igual que la estancia media hospitalaria. Sólo se trasladó a los pacientes mayores a un hospital de rehabilitación en una mayor proporción, que no fue significativa. Conclusiones: Los resultados que hemos encontrado son similares a los de otros trabajos en los que la edad no es un factor que determine peores resultados funcionales (AU)

Objective: Surgical treatment of osteoarthritis with total knee arthroplasty (TKA) has become a routine technique in patients of «almost» any age. The aim of the present study was to compare the results of TKA according to patient age. Material and methods: A prospective study was performed in 112 patients with osteoarthritis who underwent TKA from March 1st, 2007 through May 31st, 2007. There were two groups; the first comprised 61 patients aged 65 to 75 years old and the second included 51 patients aged 76 to 85 years old. Sociodemographic data and health system use were evaluated. The results were evaluated by using the Hospital Special Surgery (HSS) scale, the SF-36 health survey questionnaire, the visual analogue scale (VAS) for pain, and joint measurement with manual goniometrics. The patients were evaluated before surgery and at 6 months after surgery. Results: No significant differences were observed between the two groups. Complications and length of hospital stay were similar in both groups. A greater proportion of older patients were referred to a rehabilitation hospital but this difference was not statistically significant. Conclusions: The results of the present study were similar to those of other studies that found that greater age does not lead to worse functional results (AU)

[Functional outcomes after resection of hip arthroplasty (Girdlestone technique)]. / Situación funcional de los pacientes tras resección de artroplastia de cadera (Girdlestone).

INTRODUCTION: the complications of hip arthroplasty in elderly patients can lead to resection of the prosthesis and cement, also known as the Girdlestone technique. This kind of surgery causes serious dysmetria and alters gait dynamics, thus affecting the patient's functional ability. The aim of this study was to describe the functional outcome, 1 year after surgery, in a group of patients that underwent surgery with this technique. MATERIAL AND METHODS: we performed a descriptive study of 48 patients aged more than 65 years old who underwent surgery with the Girdlestone technique from 1999 to 2005. Twenty-one patients completed the study. Functional outcome and pain were measured with the Harris scale, and gait with the Functional Ambulatory Classification (FAC) scale 1 year after surgery. RESULTS: the mean age was 79.71 years. The most frequent causes of exeresis were periprosthetic infection in 42% and recurrent hip dislocation in 36%. Of the 21 patients assessed 1 year after the intervention, 42.8% were unable to walk and needed a wheelchair and only 28.5% were able to walk with the aid of one or two crutches. Pain was moderate in 23.8% of the patients and was mild in the remainder. The mean score on the Harris scale was 51 out of 100 points. CONCLUSIONS: failure of hip arthroplasty requiring Girdlestone resection is very damaging to functional outcome in elderly patients.

Situación funcional de los pacientes tras resección de artroplastia de cadera (Girdlestone) / Functional outcomes after resection of hip arthroplasty (Girdlestone technique)

Introducción: las complicaciones de las artroplastias de cadera en pacientes ancianos pueden obligar a la resección de la prótesis y del cemento, o técnica de Girdlestone. Esa intervención produce una grave dismetría y una alteración de la dinámica de la marcha que repercute en la capacidad funcional de los pacientes. En este trabajo queremos describir la situación funcional, a partir del año de la intervención, de un grupo de pacientes intervenidos mediante esta técnica. Material y métodos: estudio descriptivo de 48 pacientes mayores de 65 años, intervenidos de artroplastia de resección de Girdlestone, durante los años 1999-2005. Se completó el estudio en 21 pacientes. La situación funcional y el dolor se midieron mediante la escala de valoración de Harris y la capacidad de marcha mediante el Functional Ambulatory Classification (FAC), a partir del año de la intervención. Resultados: la edad media fue de 79,71 años. Las causas más frecuentes de la exéresis fueron: el 42% infección periprotésica y el 36% la luxación recidivante. De los 21 pacientes valorados un año después de la intervención, el 42,8% no podía caminar y precisaba una silla de ruedas, y tan sólo el 28,5% eran independientes para la marcha, con ayuda de uno o dos bastones. El 23,8% de los pacientes tenía dolor moderado; en el resto el dolor era leve. El valor medio de la escala de Harris fue de 51/100 puntos. Conclusiones: el fracaso de las artroplastias de cadera que precisan de una resección de Girdlestone supone un grave deterioro de la capacidad funcional de los pacientes ancianos

Introduction: the complications of hip arthroplasty in elderly patients can lead to resection of the prothesis and cement, also known as the Girdlestone technique. This kind of surgery causes serious dysmetria and alters gait dynamics, thus affecting the patient’s functional ability. The aim of this study was to describe the functional outcome, 1 year after surgery, in a group of patients that underwent surgery with this technique. Material and methods: we performed a descriptive study of 48 patients aged more than 65 years old who underwent surgery with the Girdlestone technique from 1999 to 2005. Twenty-one patients completed the study. Functional outcome and pain were measured with the Harris scale, and gait with the Functional Ambulatory Classification (FAC) scale 1 year after surgery. Results: the mean age was 79.71 years. The most frequent causes of exeresis were periprosthetic infection in 42% and recurrent hip dislocation in 36%. Of the 21 patients assessed 1 year after the intervention, 42.8% were unable to walk and needed a wheelchair and only 28.5% were able to walk with the aid of one or two crutches. Pain was moderate in 23.8% of the patients and was mild in the remainder. The mean score on the Harris scale was 51 out of 100 points. Conclusions: failure of hip arthroplasty requiring Girdlestone resection is very damaging to functional outcome in elderly patients (AU)