Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort

Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (cafe-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients (n = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017. Results: Half of the 16 patients with polyostotic FD presented with MAS. All patients with MAS (n = 8) had cafe-au-lait spots, and either gonadotropin-independent precocious puberty (PP) (girls; n = 5) or abnormal testicle structure (boys, n = 3). None manifested hyperthyroidism or growth hormone excess. Mild hypophosphatemia was common (11/16), but none had signs of hypophosphatemic rickets. Craniofacial bone involvement was found in 12 patients (75%); in 5 of these, skeletal lesions were limited to craniofacial area. One child with craniofacial disease had lost vision due to optic nerve damage. Eleven (69%) patients had sustained a fracture at FD lesion, over half of them requiring surgical fixation of the fracture, most commonly in the proximal femur. The first symptoms leading to FD/MAS diagnosis included skull/facial asymmetry (n = 4), PP (n = 3), abnormal gait (n = 3), pathologic fracture (n = 3), wide-spread cafe-au-lait spots (n = 1), headache (n = 1), and vision loss (n = 1). Conclusion: Polyostotic FD and MAS remain diagnostic and therapeutic challenges because of the broad clinical spectrum. Recurrent fractures, pain, and even vision loss may impair the quality of life in children with FD.Peer reviewe

Detection and mapping of mtDNA SNPs in Atlantic salmon using high throughput DNA sequencing

BACKGROUND: Approximately half of the mitochondrial genome inherent within 546 individual Atlantic salmon (Salmo salar) derived from across the species' North Atlantic range, was selectively amplified with a novel combination of standard PCR and pyro-sequencing in a single run using 454 Titanium FLX technology (Roche, 454 Life Sciences). A unique combination of barcoded primers and a partitioned sequencing plate was employed to designate each sequence read to its original sample. The sequence reads were aligned according to the S. salar mitochondrial reference sequence (NC_001960.1), with the objective of identifying single nucleotide polymorphisms (SNPs). They were validated if they met with the following three stringent criteria: (i) sequence reads were produced from both DNA strands; (ii) SNPs were confirmed in a minimum of 90% of replicate sequence reads; and (iii) SNPs occurred in more than one individual. RESULTS: Pyrosequencing generated a total of 179,826,884 bp of data, and 10,765 of the total 10,920 S. salar sequences (98.6%) were assigned back to their original samples. The approach taken resulted in a total of 216 SNPs and 2 indels, which were validated and mapped onto the S. salar mitochondrial genome, including 107 SNPs and one indel not previously reported. An average of 27.3 sequence reads with a standard deviation of 11.7 supported each SNP per individual. CONCLUSION: The study generated a mitochondrial SNP panel from a large sample group across a broad geographical area, reducing the potential for ascertainment bias, which has hampered previous studies. The SNPs identified here validate those identified in previous studies, and also contribute additional potentially informative loci for the future study of phylogeography and evolution in the Atlantic salmon. The overall success experienced with this novel application of HT sequencing of targeted regions suggests that the same approach could be successfully applied for SNP mining in other species

Radiographic closure time of appendicular growth plates in the Icelandic horse

<p>Abstract</p> <p>Background</p> <p>The Icelandic horse is a pristine breed of horse which has a pure gene pool established more than a thousand years ago, and is approximately the same size as living and extinct wild breeds of horses. This study was performed to compare the length of the skeletal growth period of the "primitive" Icelandic horse relative to that reported for large horse breeds developed over the recent centuries. This information would provide practical guidance to owners and veterinarians as to when the skeleton is mature enough to commence training, and would be potentially interesting to those scientists investigating the pathogenesis of osteochondrosis. Interestingly, osteochondrosis has not been documented in the Icelandic horse.</p> <p>Methods</p> <p>The radiographic closure time of the appendicular growth plates was studied in 64 young Icelandic horses. The results were compared with previously published closure times reported for other, larger horse breeds. The radiographs were also examined for any signs of developmental orthopaedic diseases. In order to describe further the growth pattern of the Icelandic horse, the total serum alkaline phosphatase (ALP) activity was determined and the height at the withers was measured.</p> <p>Results</p> <p>Most of the examined growth plates were fully closed at the age of approximately three years. The horses reached adult height at this age; however ALP activity was still mildly increased over baseline values. The growth plates in the digits were the first to close at 8.1 to 8.5 months of age, and those in the regions of the distal radius (27.4 to 32.0 months), tuber olecrani (31.5 to 32.2 months), and the stifle (27.0 to 40.1 months) were the last to close. No horse was found to have osteochondrosis type lesions in the neighbouring joints of the evaluated growth plates.</p> <p>Conclusion</p> <p>The Icelandic horse appears to have similar radiographic closure times for most of the growth plates of its limbs as reported for large new breeds of horses developed during the past few centuries. It thus appears that different breeding goals and the intensity of breeding have not altered the length of the growth period in horses. Instead, it can be assumed that the pristine and relatively small Icelandic horse has a slower rate of growth. The appendicular skeleton of Icelandic horses has completed its bone growth in length at approximately 3 years of age, and therefore may be able to enter training at this time.</p

The effect of reducing levels of cat allergen (Fel d 1) on clinical symptoms in patients with cat allergy

BACKGROUND: Treatment of cat allergy normally entails removal of the cat from the household, but cat owners are often unwilling to part with their pets, despite clinically relevant allergies. OBJECTIVE: To determine whether levels of Fel d 1 can be reduced without removal of the cat and whether this will affect symptoms of cat allergy. METHODS: Cat-allergic patients underwent randomization to either a group instructed in environmental control (EC) and a group with unchanged environment (UE). Dust samples were obtained and settled Fel d 1 measured by enzyme-linked immunosorbent assay. Patients recorded daily nasal inspiratory flow rates. At baseline, 3 months, and 8 months, patients underwent symptom evaluation. RESULTS: Eighteen patients were randomized to the EC group and 22 to the UE group; the final number completing the study was 31, 15 in the EC group, and 16 in the UE group. At 8 months, home Fel d 1 levels had diminished to 6.8% of baseline levels in the EC group, whereas no reduction in levels was noted in the UE group. In the EC group, significant improvements were found in nasal inspiratory flow rate and symptoms compared with the UE group. Patients did not have difficulties adhering to EC measures. CONCLUSION: A decrease in the allergen load was found in the EC group, which had a significant effect on symptoms of nasal allergy

Risk of retinal neovascularization in the second eye in patients with proliferative diabetic retinopathy.

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldPURPOSE: This study aimed to evaluate the risk of proliferative diabetic retinopathy (DR) in the fellow eye of an eye with existing proliferative DR. METHODS: Our DR screening programme database listed 1513 diabetes patients alive at the time of the study. Seventy-six had proliferative DR in one or both eyes. RESULTS: In 28 of the 76 (37%) diabetes patients, proliferative DR was diagnosed in both eyes at the same examination. Another 28 patients developed proliferative DR in the second eye within 5 years of its diagnosis in the first eye, bringing the total number of diabetes patients with proliferative DR in both eyes at 5 years to 56 (74%). Almost all the diabetes patients eventually developed proliferative DR in the second eye. The median duration of diabetes before the development of proliferative retinopathy was 19 years for type 1 and 14 years for type 2 diabetes. CONCLUSIONS: Proliferative DR is a bilateral disease. Diabetes patients with proliferative DR in one eye are at high risk of developing neovascularization in the second eye and close follow-up is recommended

Evaluation of osteochondral sample collection guided by computed tomography and magnetic resonance imaging for early detection of osteoarthritis in centrodistal joints of young Icelandic horses

Objective-To evaluate the use of CT and MRI for guidance of osteochondral sample collection for histologic detection of early osteoarthritic lesions in centrodistal (distal intertarsal) joints of horses. Sample-Right tarsal joints from the cadavers of 24 Icelandic horses aged 29 to 31 months. Procedures-CT and MRI were used to evaluate the extent of suspected osteoarthritic changes in centrodistal joints, which were graded with a semiquantitative system. The anatomic regions with the highest grade of change were identified, and osteochondral samples were obtained from these regions. Samples were also obtained from the same centrodistal joints at predetermined sites. Histologic examination of all samples was performed, with samples classified as negative or positive for osteoarthritis, and results were compared between sample collection methods. Results-Histologic examination revealed osteoarthritic lesions in 29% (7/24) of centrodistal joints with the predetermined method and in 63% (15/24) with the image-guided method. Significant associations were identified between histologic osteoarthritis detection and the summed image-guided sample collection site image grades, central osteophytes, articular cartilage thickness abnormalities, grade 2 articular mineralization front defects, and grade 2 marginal osteophytes. Conclusions and Clinical Relevance-CT and MRI aided the detection of focal changes suggestive of early-stage osteoarthritis in the centrodistal joints of equine cadavers and may be useful for detection of similar disease in live horses. The first morphological changes of centrodistal joint osteoarthritis were suspected to be in the articular cartilage and the articular mineralization front regions. (Am J Vet Res 2013;74:874-887

Association of conformation and riding ability in Icelandic horses

International audienceThe official breeding goal for the Icelandic horse promotes five-gaited horses with a functional and aesthetic conformation. The objectives of the present study were to assess the phenotypic and genetic relationship between standard conformational measurements and scores for riding ability. Further, to investigate if more detailed (3-D) morphometric measurements could discriminate between high-class and low-class horses based on scores for each gait. The data comprised records from standard conformational measurements and scores for the different gaits and the total score for riding ability of all assessed breeding horses in Iceland in 2000-2013 (10,091 horses). Further, records from a subpopulation of 98 haphazardly selected breeding horses that were subject to detailed quantification of the conformation in 3-D and genotyped with respect to DMRT3 genotype, were included in the study. Most of the standard measurements had a significant and curvilinear relationship with the studied riding ability traits. They had generally high estimated heritability but weak or moderate genetic correlation with the total score of riding ability. Proportions in the top line of the horse describing the height of the horse at front compared to hind were found to be most important for the riding ability, revealing the advantage of an uphill conformation. Their estimated heritability and genetic correlation with total score for riding ability designate them as important indicators for performance. Certain lengths, proportions and angles between bones in the fore- and hind limbs also had a significant effect on scores for some gaits. These results can improve the assessment of the conformation and consequently the riding ability of the Icelandic horse. (C) 2016 Elsevier B.V All rights reserved

Risk factors for acute cellulitis of the lower limb: a prospective case-control study

To access Publisher full text version of this article. Please click on the hyperlink in Additional Links fieldBACKGROUND: Acute bacterial cellulitis is a potentially serious infection that commonly recurs. The identification of preventable risk factors could reduce infection-related morbidity and cost and improve patient management. The aim of this study was to identify the risk factors associated with lower-limb cellulitis, including both analysis of risk factors associated with cellulitis in either limb and risk factors in a single limb associated with cellulitis in the same limb. We placed particular emphasis on dermatophytic infections of the foot and bacterial infection and colonization of the toe webs. METHODS: We conducted a prospective case-control study of 100 subjects with cellulitis and 200 control subjects, matched for age and sex, who were admitted to a university hospital during the period October 2000-February 2004. Data were obtained with a questionnaire and from examination of lower limbs and microbiological analyses of samples from the feet. RESULTS: The median age of the participants was 66.5 years (interquartile range, 48.8-77.0). The following risk factors were strongly and independently associated with cellulitis: previous history of cellulitis (OR, 31.04; 95% CI, 4.15-232.20), the presence of Staphylococcus aureus and/or beta -hemolytic streptococci in the toe webs (OR, 28.97; 95% CI, 5.47-153.48), presence of leg erosions or ulcers (OR, 11.80; 95% CI, 2.47-56.33), and prior saphenectomy (OR, 8.49; 95% CI, 1.62-44.52). Tinea pedis interdigitalis was associated with cellulitis only when toe web bacteria were excluded from the analysis (OR, 3.86; 95% CI, 1.32-11.27). CONCLUSIONS: Risk factors for acute bacterial cellulitis in hospitalized patients include predisposing factors and the presence of sites of pathogen entry on legs and toe webs. These findings indicate that improved awareness and management of toe web intertrigo, which may harbor bacterial pathogens, and other skin lesions might reduce the incidence of cellulitis

The relationship between alkaline phosphatase (ALP, in U/L) and age (in months) of 64 Icelandic horses with a fitted geometric curve

<p><b>Copyright information:</b></p><p>Taken from "Radiographic closure time of appendicular growth plates in the Icelandic horse"</p><p>http://www.actavetscand.com/content/49/1/19</p><p>Acta Veterinaria Scandinavica 2007;49(1):19-19.</p><p>Published online 17 Jul 2007</p><p>PMCID:PMC1950711.</p><p></p> The dotted line at the ALP-level of 242.5 U/L represents the mean ALP value of the control group of 11 horses, which were 7 to 16 years of age

The relationship between height at the withers and age of 63 Icelandic horses

<p><b>Copyright information:</b></p><p>Taken from "Radiographic closure time of appendicular growth plates in the Icelandic horse"</p><p>http://www.actavetscand.com/content/49/1/19</p><p>Acta Veterinaria Scandinavica 2007;49(1):19-19.</p><p>Published online 17 Jul 2007</p><p>PMCID:PMC1950711.</p><p></p> The fitted curve is a geometric model