[Arthroscopic reduction of congenital hip dislocations in infants]. / Arthroskopische Reposition der kongenitalen Hüftgelenkluxation im Säuglingsalter.

OBJECTIVE: Open reduction of congenital hip dislocations currently remains the standard treatment for those hip joints which are irreducible by closed means. The open reduction of the dislocated hip joint represents a relatively invasive surgical method. Thus, the goal was to develop a minimally invasive and safe procedure with a lower complication rate as an alternative to open reduction. This work presents the arthroscopically guided reduction of dislocated hip joints, first described in 2009, as a standardized surgical technique. INDICATIONS: Failed closed reduction for congenital hip dislocation. SURGICAL TECHNIQUE: Arthroscopic reduction of the dislocated femoral head using an arthroscopic two-portal technique, a high anterolateral and a medial subadductor portal. The arthroscope is inserted through the subadductor portal. The high anterolateral portal serves as working portal. Step-by-step identification and removal of obstacles to reduction such as the ligament of the femoral head, fat tissue, capsular constriction and psoas tendon. Reduction of the femoral head under arthroscopic control. POSTOPERATIVE TREATMENT: The hip joint is retained in a hip spica cast with the legs in human position. RESULTS: Arthroscopic hip reduction of 20 congenital hip dislocations: 13 girls and 3 boys with an average age at the time of operation of 5.8 months (3-9 months). All children had multiple, unsuccessful attempts of closed reduction by use of overhead traction, Pavlik harness or closed reduction and hip spica application. According to the Graf classification, there were 20 type IV hips. According to the radiological classification of Tönnis, there were 9 type 4, 7 type 3, and 4 type II grades. The obstacles to reduction were capsular constriction, hypertrophic ligament of the femoral head, and an extensively large pulvinar in the acetabulum. An inverted labrum was not seen in any of the cases. In contrast, in 2/3 of the cases, there was considerable retraction of the dorsal edge of the socket due to the ligament of the femoral head expanding right over it. In all cases, postreduction transinguinal ultrasound and MRI were used to check the femoral head position in the cast postoperatively. In all cases there was a deep reduction of the femoral head in the acetabulum. There were no intra- or postoperative complications such as bleeding, infections or nerve lesions. There were no cases of redislocation or decentering of the femoral head, which was also confirmed after an average follow-up of 15 months. The mean AC angle at follow-up was 24.5°. There was one coxa magna in the series and one avascular necrosis with a fragmented femoral head according to the Salter classification.

Bayesian QTL analyses using pedigreed families of an outcrossing species, with application to fruit firmness in apple.

KEY MESSAGE: Proof of concept of Bayesian integrated QTL analyses across pedigree-related families from breeding programs of an outbreeding species. Results include QTL confidence intervals, individuals' genotype probabilities and genomic breeding values. Bayesian QTL linkage mapping approaches offer the flexibility to study multiple full sib families with known pedigrees simultaneously. Such a joint analysis increases the probability of detecting these quantitative trait loci (QTL) and provide insight of the magnitude of QTL across different genetic backgrounds. Here, we present an improved Bayesian multi-QTL pedigree-based approach on an outcrossing species using progenies with different (complex) genetic relationships. Different modeling assumptions were studied in the QTL analyses, i.e., the a priori expected number of QTL varied and polygenic effects were considered. The inferences include number of QTL, additive QTL effect sizes and supporting credible intervals, posterior probabilities of QTL genotypes for all individuals in the dataset, and QTL-based as well as genome-wide breeding values. All these features have been implemented in the FlexQTL(™) software. We analyzed fruit firmness in a large apple dataset that comprised 1,347 individuals forming 27 full sib families and their known ancestral pedigrees, with genotypes for 87 SSR markers on 17 chromosomes. We report strong or positive evidence for 14 QTL for fruit firmness on eight chromosomes, validating our approach as several of these QTL were reported previously, though dispersed over a series of studies based on single mapping populations. Interpretation of linked QTL was possible via individuals' QTL genotypes. The correlation between the genomic breeding values and phenotypes was on average 90 %, but varied with the number of detected QTL in a family. The detailed posterior knowledge on QTL of potential parents is critical for the efficiency of marker-assisted breeding.

[Pseudarthrosis following surgically treated forearm fractures in children and adolescents]. / Unterarmpseudarthrosen im Kindes- und Jugendalter.

AIM: Due to the changing attitude of treating paediatric forearm fractures increasingly towards the surgical stabilisation rather than conservatively by the method of elastic stable intramedullary nailing (ESIN), we are confronted with complications which have not been described in childhood previously. Pseudarthrosis following surgically treated forearm fractures in children is only found in single reports with none in the German-speaking area. The goal of this study is to define predisposing factors which may lead to pseudarthrosis after surgery for forearm fractures. METHOD: From 1990 to 2011 all children having sustained a pseudarthrosis following forearm fractures treated in our institution were included. All children who did not demonstrate a complete consolidation of the forearm fractures after 6 months from injury were considered for the study. Those pseudarthroses which were caused through systemic diseases were excluded. RESULTS: During the time period of 21 years, fourteen children were treated who fulfilled the criteria of having a pseudarthrosis. Nine of the fourteen children had primarily been treated in an outside hospital, five in our institution. The average age was 10.8 years (7-15 years). There were thirteen ulnar shaft and one radius shaft pseudarthroses. In 11 children the pseudarthrosis was located in the middle third and there was one child each with a pseudarthrosis in the proximal and distal third of the ulna. There were 13 ulnar shaft fractures and one monteggia lesion. Twelve of the fractures were primarily closed and there were two open cases. In nine cases an open reduction of the ulna was necessary, the radius was openly reduced in four patients. In five children technical mistakes of the osteosynthesis were identified to contribute to the formation of the pseudarthrosis. Five of the 14 children had experienced a re-fracture. Nine children had revision surgery. These children were treated by plate osteosynthesis or ESIN. In five patients the pseudarthrosis healed spontaneously without interference. There were 13 hypertrophic and one hypotrophic pseudarthroses. CONCLUSION: Pseudarthrosis of the forearm following surgical treatment of forearm fractures in children and adolescents mainly occurred in the middle third of the ulna. In primarily open fractures or in cases which needed to be openly reduced the risk of pseudarthrosis formation was higher. Inadequate osteosynthetic stabilisation is another factor to contribute to difficulties in fracture healing. Despite of the possibility of pseudarthrosis, the indication to ESIN treatment in paediatric forearm fractures is not doubted. It is important to keep the surgical trauma as small as possible if open reduction is required in order to not disturb the perfusion of the bone.

[High-altitude retinopathy]. / Retinopatía de gran altura.

CASE REPORT: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range). DISCUSSION: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain.

Retinopatía de gran altura / High-altitude retinopathy

Caso Clínico: Varón de 36 años que presenta pérdida súbita de visión central, durante una expedición al Daulaghiri (cordillera del Himalaya), de 8.167 m de altitud. Discusión: Las hemorragias retinianas de la altura son una manifestación frecuente en montañeros que superan los 5.500 m de altitud. Según su localización puede cursar deforma asintomática y suele evolucionar favorablemente. En caso de afectación macular, la visión disminuye de forma drástica y el pronóstico es incierto(AU)

Case report: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range).Discussion: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500 m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain(AU)

Autoimmune hypothyroidism: might its presence be useful to support the diagnosis of sarcoidosis in a patient with acute symmetrical oligoarthritis?

Acute sarcoid arthritis may be present in isolation or as part of Löfgren's syndrome. Its true incidence is unclear since the diagnosis may be difficult when patients present with articular symptoms alone. The diagnosis of sarcoid arthritis is based upon suggestive clinical, imaging, synovial fluid findings, and in some cases upon synovial biopsy. The finding of sterile noncaseating granulomatous inflammation on biopsy is supportive, but it is not pathognomic of sarcoidosis. On the other hand, sarcoidosis has been associated with autoimmune diseases, especially with autoimmune thyroid disease. We believe that it might be of interest to evaluate thyroid function testing in patients with clinical features consistent with sarcoid arthritis, and the diagnosis of sarcoidosis should be considered in patients who present with symmetrical arthritis and thyroid autoimmune disease. We describe herein a patient with subclinical autoimmune hypothyroidism and an acute symmetrical oligoarthritis, with a clinical presentation and laboratory data consistent with acute sarcoid arthritis (Ref. 14).