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Skeletal Deformities (skeletal + deformity)
Selected AbstractsPersistent Cloaca, Fused Kidneys, Female Pseudohermaphroditism and Skeletal Anomalies in a Simmental CalfANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 3 2009M. Y. Gulbahar Summary A 5-day-old Simmental calf was referred to our department for atresia ani and postural abnormalities caused by skeletal deformities. The calf had a short and deviated tail and a bowed hind limb. The calf appeared like a male because of the prepuce and penis located just near the teats and the absence of female external genitalia. During the necropsy, a horseshoe kidney, single ureter that originated from the kidney, and bilateral uterine horns with one ovary each were detected. The ureter, blind-ended large intestine, and bilateral uterine horns were connected to a dilated cloaca having two sacs, which were filled with a yellowish brown viscous fluid admixed with meconium and urine. Skeletal deformities found included scoliosis, partial synostosis of vertebrae, deviation of rudimentary sacrum and coccygeal vertebrae, and narrowed pelvic cavity. This is the first report of an anomalous combination including urogenital, large intestinal, and skeletal deformities in cattle. [source] Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2005Anna-Karin Kroksmark PT Msc This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended. [source] Developmental effects of bioaccumulated selenium in eggs and larvae of two salmonid speciesENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 9 2005Jodi Holm Abstract Elevated concentrations of Se have been detected in cold, flowing water habitats near uranium and coal mines in Canada. Fish from these systems have concentrations of Se in their tissues that exceed toxic effect thresholds that have been established for warm-water fishes. However, the applicability of toxic effect thresholds and guidelines to cold water, lotic habitats is a matter of contention in the literature since most cases of Se toxicosis have been documented in standing, warm-water systems. To examine the possibility of impaired reproduction in wild rainbow trout (Oncorhynchus mykiss) and brook trout (Salvelinus fontinalis) near coal mining activity in the northeastern slopes region of Alberta, Canada, spawn from both species were collected from exposure and reference sites. Gametes were fertilized in the laboratory, reared to the swim-up stage, and examined for deformities. A significant relationship was observed for rainbow trout between the amount of Se in eggs and the incidence of developmental abnormalities, specifically craniofacial defects, skeletal deformities, and edema. These associations approximate exponential functions with probabilities that 15% of the population would be affected occurring between 8.8 and 10.5 ,g Se per gram of wet egg weight, based on probit analysis. These relationships are similar to those described for centrarchids inhabiting a seleniferous warm-water lake. No such relationships were established for brook trout. [source] Studies on the appearance of skeletal anomalies in red porgy: effect of culture intensiveness, feeding habits and nutritional quality of live preysJOURNAL OF APPLIED ICHTHYOLOGY, Issue 2 2010M. S. Izquierdo Summary Despite the great interest of red porgy as a new species for Mediterranean aquaculture, its commercial production is constrained by the high incidence of skeletal deformities occurring in this species under culture conditions. Several studies have been conducted to better understand the origin of these anomalies in this species, using different system intensiveness, rotifers enrichment products or rotifers docosahexaenoic acid content. The first study showed that culture intensification increased the number of fish with an extra vertebrae, what was probably related to the different nutritional quality of live preys employed in each treatment, since water temperature, salinity and genetic background were identical for the different batches of fish studied. Total incidence of skeletal abnormalities was higher in the intensive system, particularly cranial abnormalities and kyphosis in the cephalic vertebrae. In both rearing systems the most common skeletal anomalies were vertebral column disorders, lordosis and fused vertebrae, their localization along the column being affected by the culture intensiveness. Rotifer enrichment, predominantly its docosahexaenoic acid content significantly affected deformities occurrence. A marked positive effect of rotifer docosahexaenoic acid content was found on larval survival. X-ray studies denoted elevated levels of bone abnormalities associated, in both trials, to low docosahexaenoic acid content in live preys. Among different anomalies, the presence of fused vertebrae was the most frequent deformity for both rearing trials. A 50% reduction in the number of deformed fish for each type of deformity was obtained when the larvae were fed higher docosahexaenoic acid levels, denoting the important role of this fatty acid in bone development. Further studies are needed to elucidate the importance of essential fatty acids on the development of bone deformities in fish, since the functions of these fatty acids differ among them and can lead to very different effects in fish metabolism, including bone formation. [source] Effect of rearing techniques on skeletal deformities and osteological development in red porgy Pagrus pagrus (Linnaeus, 1758) larvaeJOURNAL OF APPLIED ICHTHYOLOGY, Issue 2 2010J. Roo Summary Red porgy is a candidate species for marine aquaculture diversification. The objective of the present study was to describe the osteological development in this species and the occurrence of skeletal deformities in relation to the intensification of the rearing system. Fish samples were periodically collected along the development from hatching to juveniles (95 days after hatching). Osteological development and the presence of skeleton abnormalities were evaluated. Larvae reared under S-IS showed a better growth in terms of total length in comparison with IS reared ones. Regarding to osteological development for red porgy, this was similar between fish from both culture systems, but differing in timing of apparition and ossification of skeletal elements. X-ray studies revealed a high number of fish with skeletal deformities (Semi-intensive: 38.8%; Intensive: 46.5%), but no significant effect of the rearing technique on the incidence of deformities such as lordosis or fused vertebrae was found. However, cranial abnormalities and kyphosis incidences were significantly higher in intensive system cultured red porgy. These results, suggest a relationship among rearing technique, osteological development and the apparition of certain deformities. [source] Skeletal and Pigmentation Defects following Retinoic Acid Exposure in Larval Summer Flounder, Paralichthys dentatusJOURNAL OF THE WORLD AQUACULTURE SOCIETY, Issue 3 2007Gabriela M. Martinez Supplementation of larval diets with vitamin A (VA) is routinely and successfully used to stimulate pigmentation development in hatchery-reared flatfishes. However, excess dietary VA can lead to high levels of its metabolite retinoic acid (RA) and has been associated with the occurrence of skeletal deformities, presumably via RA toxicity. We reared summer flounder larvae, Paralichthys dentatus, in water containing 0- to 20-nM RA to assess its effects on postmetamorphic pigmentation and on skeletal development. RA exposure disrupted pigmentation development: treated tanks had a smaller percentage of normally pigmented fish than did controls, with increased numbers of both hypo- and hyperpigmented individuals. Exposure also affected the development of several skeletal features: RA treatment correlated with a significant increase in the severity of defects in jaws, fins, hypurals, and vertebrae compared with control groups. [source] Caesarean section in a complicated case of central core diseaseANAESTHESIA, Issue 5 2008R. N. Foster Summary We describe the anaesthetic management of a 21-year-old lady with central core disease for elective Caesarean section. Central core disease is characterised by muscle weakness, skeletal deformities and susceptibility to malignant hyperthermia. Total intravenous anaesthesia was used because of the combination of potential malignant hyperthermia, severe kyphoscoliosis and extensive spinal scarring. The authors believe there is no previous report of propofol and remifentanil being used in these circumstances. A short review of central core disease and its anaesthetic implications is provided. [source] Persistent Cloaca, Fused Kidneys, Female Pseudohermaphroditism and Skeletal Anomalies in a Simmental CalfANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 3 2009M. Y. Gulbahar Summary A 5-day-old Simmental calf was referred to our department for atresia ani and postural abnormalities caused by skeletal deformities. The calf had a short and deviated tail and a bowed hind limb. The calf appeared like a male because of the prepuce and penis located just near the teats and the absence of female external genitalia. During the necropsy, a horseshoe kidney, single ureter that originated from the kidney, and bilateral uterine horns with one ovary each were detected. The ureter, blind-ended large intestine, and bilateral uterine horns were connected to a dilated cloaca having two sacs, which were filled with a yellowish brown viscous fluid admixed with meconium and urine. Skeletal deformities found included scoliosis, partial synostosis of vertebrae, deviation of rudimentary sacrum and coccygeal vertebrae, and narrowed pelvic cavity. This is the first report of an anomalous combination including urogenital, large intestinal, and skeletal deformities in cattle. [source] A balanced amino acid diet improves Diplodus sargus larval quality and reduces nitrogen excretionAQUACULTURE NUTRITION, Issue 5 2009M. SAAVEDRA Abstract Fish larvae present high amino acid requirements due to their high growth rate. Maximizing this growth rate depends on providing a balanced amino acid diet which can fulfil larval amino acid nutritional needs. In this study, two experimental microencapsulated casein diets were tested: one presenting a balanced amino acid profile and another presenting an unbalanced amino acid profile. A control diet, live feed based, was also tested. Trials were performed with larvae from 1 to 25 days after hatching (DAH). Microencapsulated diets were introduced at 8 DAH in co-feeding with live feed and at 15 DAH larvae were fed the microencapsulated diets alone. Results showed a higher survival for the control group (8.6 ± 1.3% versus 4.2 ± 0.6% and 3.2 ± 1.8%) although dry weight and growth were similar in all treatments. The proportion of deformed larvae as well as the ammonia excretion was lower in the group fed a balanced diet than in the unbalanced or control groups (38.3% deformed larvae in control, 30% in larvae fed unbalanced diet and 20% on balanced diet group). Furthermore, larvae fed the microencapsulated diets presented higher docosahexaenoic acid and arachidonic acid levels. This study demonstrates that dietary amino acid profile may play an important role in larval quality. It also shows that balanced microencapsulated diets may improve some of the performance criteria, such as skeletal deformities, compared to live feeds. [source] Tyrosine and phenylalanine supplementation on Diplodus sargus larvae: effect on growth and qualityAQUACULTURE RESEARCH, Issue 10 2010Margarida Saavedra Abstract Phenylalanine is the precursor of tyrosine, which is involved in the synthesis of several molecules with key roles in the regulation of metabolism and growth, stress response and pigmentation. In this study, three experimental diets were tested: an amino acid (AA) balanced diet supplemented with phenylalanine, another supplemented with phenylalanine and tyrosine and a non-supplemented AA balanced diet. Rotifers were enriched with liposomes encapsulating free AA in order to obtain a balanced AA profile. The experimental diets resulted in similar larval survival, growth, enzyme activities of AA catabolism and nitrogen excretion in all treatments. High levels of skeletal deformities were registered and significant differences were found between the control and the phenylalanine treatment for the percentage of vertebral compressions in the trunk region of the vertebral column (30% in the control and 5% in the phenylalanine group). A significantly higher survival to a temperature stress test was found for larvae fed the diet supplemented with phenylalanine and tyrosine. The results suggest that supplementation of phenylalanine/tyrosine in fish diets may be useful in order to reduce skeletal deformities and mortalities caused by stress. The present study confirms that AA requirements may be sufficient for covering growth and survival but insufficient to cover other metabolic processes. [source] Development of deformities at the vertebral column in Diplodus sargus (L., 1758) early larval stagesAQUACULTURE RESEARCH, Issue 7 2010Margarida Saavedra Abstract One of the bottleneck problems of Diplodus sargus farming is a high incidence of skeletal deformities at the vertebral column. In this study, the pattern of vertebral deformities were determined in three different larval batches from 2 to 30 days after hatching (DAH). During this period, 60 larvae per spawn were observed at 2, 8, 13, 15, 18, 21, 23, 25, 27 and 30 DAH and the different types and frequency of vertebral column malformations were registered. Deformities started from 8 to 13 DAH, when the percentage of deformed larvae rose from approximately 5% to 40%. At 15 DAH, skeletal malformations had frequencies up to 80% of the observed larvae. Serious malformations such as kyphosis, scoliosis and lordosis were observed at 18 DAH but seldom in percentages higher than 15%. Vertebral fusions and compressions especially affected the preurostyle region. Abnormal shape vertebrae were more frequent between vertebrae 15 and 21. Other malformations observed were hypertrophic vertebrae, more common in the trunk and caudal regions, reaching percentages higher than 50% in the former. This study has useful information concerning skeletal malformations at the vertebral column of D. sargus larvae, as it identifies the main deformities observed and the ages of highest incidence. [source] Comparing skeletal development of wild and hatchery-reared Senegalese sole (Solea senegalensis, Kaup 1858): evaluation in larval and postlarval stagesAQUACULTURE RESEARCH, Issue 14 2009Paulo Jorge Gavaia Abstract The Senegalese sole is a marine pleuronectiform that naturally occurs in Southern Europe and Mediterranean region where it is being produced in aquaculture, in particular in Portugal and Spain. The aim of this study was to assess the quality of hatchery-reared larvae in comparison with those reared in the wild, and determine to which extension wild growing larvae are also affected by skeletal deformities. The main structures affected included those forming the axial skeleton, the caudal fin complex and both anal and dorsal fins, with the most prevalent anomalies affecting caudal vertebrae and arches. Hatchery-reared fish presented a higher incidence of deformities (79%) compared with the 19% observed in wild specimens. In wild postlarvae collected in Autumn no deformities were observed. This work clearly shows that wild Senegalese sole present less skeletal deformities than those hatchery-reared during larval stages, indicating a selective mortality of wild deformed fish and/or an effect of aquaculture-related rearing conditions in the development of skeletal deformities in sole. [source] Supplementation of tryptophan and lysine in Diplodus sargus larval diet: effects on growth and skeletal deformitiesAQUACULTURE RESEARCH, Issue 10 2009Margarida Saavedra Abstract Amino acids are the building blocks for growth and the major energy source during fish larval stages. Deficient amino acids can be supplemented in the diets, overcoming problems such as low growth rates and skeletal deformities. In this study, three experimental diets were tested: a balance diet supplemented with lysine, a balance diet supplemented with tryptophan and a control with no supplementation. Trials were conducted with Diplodus sargus larvae from 1 to 25 days after hatching (DAH). A microencapsulated diet was introduced at 15 DAH in co-feeding with live feed and from 20 DAH larvae were fed only this diet. The effect of the supplemented diets was assessed in terms of survival, growth rate, skeletal deformities, ammonia excretion and activity of amino acid catabolism enzymes. The results showed a similar survival in all treatments. However, larvae given tryptophan supplementation had a lower weight on 25 DAH. No significant differences were found in ammonia excretion, frequency or type of deformities or enzymatic activity. Tryptophan and lysine supplementation failed to improve larval growth, survival or larval quality. [source] Influence of dietary phospholipids on early ontogenesis of fishAQUACULTURE RESEARCH, Issue 9 2009Chantal L Cahu Abstract The aim of this paper is to provide explanations of how dietary phospholipid (PL) globally improves fish larval development, including growth and survival, digestive functions and skeletal development, and to propose optimal PL levels and sources in fish larval diets. Dietary incorporation of 8,12% PL related to dry matter (d.m.) promotes growth and enhanced survival in various species. Marine source PL, incorporating highly unsaturated fatty acids, was most efficient than soybean lecithin. This beneficial effect was explained by an enhancement in digestive functions, assessed by digestive enzyme activities and histomorphology. Nevertheless, 1.5,2.5% highly unsaturated fatty acids related to diet d.m. supplied by PL improved growth, survival and skeletal development, while 5% induced different skeletal deformities. The high incidence of deformities was associated with the down-regulation of genes involved in development, such as RXR,, RAR,, RAR, and BMP-4, observed in the early stages in larvae fed a high highly unsaturated fatty acids level. [source] Skeletal development and deformities in cultured larval and juvenile seven-band grouper, Epinephelus septemfasciatus (Thunberg)AQUACULTURE RESEARCH, Issue 2 2007Naoki Nagano Abstract The seven-band grouper, Epinephelus septemfasciatus (Thunberg), is currently recognized as a potential new species for aquaculture in Japan. This study describes normal and abnormal skeletal development of the jaw and vertebrae in cultured larvae and early juveniles of E. septemfasciatus. The ontogenetic stages at which skeletal deformities of jaw and vertebra developed were also described for this species. Osteological observations were made using a clearing and staining method for larvae and soft X-ray photographs for juveniles. A high incidence of skeletal deformities was observed in the jaws and vertebral column during the larval and juvenile stages. Most of the jaw deformities were explained by an abnormal maxilla curvature. Jaw deformities were visually evident from flexion stage after ossification of the deformed elements. Deformities in the vertebral column (mostly lordosis) were observed from the post-larval stage and became more evident as growth proceeded. The lordosis generally occurred on the positions of the 8,11th vertebra. These types of deformities are compared with those of other species, and possible causative factors of the skeletal deformities are discussed. [source] Treatment of Idiopathic Hyperphosphatasia With Intensive Bisphosphonate TherapyJOURNAL OF BONE AND MINERAL RESEARCH, Issue 5 2004Tim Cundy MD Abstract In a family with IH, a rare high turnover bone disease, two older siblings were wheelchair-bound with severe skeletal deformity by age 15. Their youngest affected sibling was treated intensively with intravenous bisphosphonates for 3 years. The treatment was well tolerated and prevented the development of deformity and disability. Introduction: Idiopathic hyperphosphatasia (IH, also known as juvenile Paget's disease) is a rare genetic bone disease characterized by very high bone turnover and progressive bony deformity. Inhibitors of bone resorption have been used to suppress bone turnover in the short term, but there is no published data on long-term efficacy. Materials and Methods: An 11-year-old girl with IH, who had two severely affected older siblings, presented with progressive deformity and deafness and long bone fractures. Conventional pediatric doses of pamidronate had failed to prevent clinical deterioration or suppress bone turnover completely. Intensive bisphosphonate therapy (frequent 5-mg ibandronate infusions) was given to try and arrest progression of the skeletal disease. Growth and development, pure tone audiometry, biochemistry, radiology, densitometry (DXA), and bone histology were monitored. Results: A total of 45 mg ibandronate was given over 3 years until skeletal maturity was reached (20, 15, and 10 mg for years 1,3, respectively). Ibandronate treatment was well tolerated, and biochemical markers of bone turnover suppressed to within the age-appropriate normal range There was some progression of her thoracic kyphosis, but she had no further fractures and remained mobile and active at an age when her siblings had become wheelchair-bound. A significant recovery of hearing (p < 0.01) was documented, particularly at low frequencies. Radiographs showed improvement in spinal osteoporosis and cortical bone dimensions and arrest of progressive acetabular protrusion. Areal bone density increased substantially (lumbar spine z-score from ,2.2 to + 1.8). Tetracycline-labeled bone biopsy specimens were taken before and after 18 months of intensive treatment. The second biopsy showed suppression of bone turnover and a doubling of trabecular thickness, with no mineralization defect, and no osteopetrosis. Conclusions: Intensive bisphosphonate treatment prevented the development of deformity and disability and improved hearing in this child with IH. The dose of bisphosphonate, which is substantially greater than is usually used in pediatric bone disease, had no adverse effects, in particular on bone mineralization. [source] Influence of Dietary Levels of Magnesium on Growth, Tissue Mineral Content, and Resistance of Channel Catfish Ictalurus punctatus Challenged with Edwardsiella ictaluriJOURNAL OF THE WORLD AQUACULTURE SOCIETY, Issue 1 2003Chhorn Lim Juvenile channel catfish were fed purified diets supplemented with magnesium (Mg) from Mg sulfate at levels of 0, 200, 400, 600, 800, and 1,000 mg/kg and 0, 200, 400, 600, and 800 mg/kg in two separate feeding studies. In study I, the effect of dietary levels of Mg on growth response, vertebral mineral content, and macrophage chemotaxis were evaluated. Study II had similar objectives except that whole body mineral content was measured, and resistance of channel catfish to Edwardsiella ictaluri challenge was also determined. Fish with an average weight of 10.89 g were stocked at a rate of 50 fish/110-L aquarium (study I). In study II, fish with an average weight of 4.14 g were stocked at rates of 40 fish/110-L aquarium. Prior to stocking, each batch of fish was acclimated to laboratory conditions and fed the basal diet for 2 wk. The concentration of Mg in rearing water was 1.8 mg/L. Each diet was fed to fish in quadruplicate and triplicate aquaria to apparent satiation for 10 wk for studies I and II, respectively. Fish fed the basal diet started to die as early as 3 d after the study began (17 d of feeding the diet without Mg supplementation). In both studies, weight gain, survival, and feed efficiency were lowest for fish fed the basal diet but increased with increasing dietary levels of Mg. However, the differences between the values of each of these parameters for fish fed diets containing supplemental Mg were not always significant. Magnesium-deficiency signs observed were anorexia, sluggishness, convulsions, deformed snout, vertebral curvature, muscle flaccidity, and high mortality. Vertebral and whole body ash concentrations were high, but Mg content was low for fish fed the basal and the 200-mg Mg diets. Bone Ca content did not differ among fish fed different diets (study I), but whole body Ca tended to increase for fish fed the basal diet, suggesting the possibility of calcification of soft tissues. Macrophage chemotaxis in the presence of exoantigen was highest for fish fed diets supplemented with Mg at 400 and 200 mgkg for studies I and II, respectively. When expressed in terms of chemotaxis index, however, maximum or near maximum value was observed at a dietary Mg level of 400 mg/kg. Thus, a dietary level of Mg of 400 mg/kg from Mg sulfate was required for optimum growth and survival, maintaining high tissue levels of Mg, prevention of muscle flaccidity and skeletal deformity, and stimulating macrophage chemotaxis. Dietary levels of Mg had no effect on the resistance of juvenile channel catfish to Edwarsiella. ictaluri challenge. [source] | ||||||||||||||||