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Social Science & Medicine (1982) Mar 2015'One World One Health' (OWOH), 'One Medicine' and 'One Health' are all injunctions to work across the domains of veterinary, human and environmental health. In large...
'One World One Health' (OWOH), 'One Medicine' and 'One Health' are all injunctions to work across the domains of veterinary, human and environmental health. In large part they are institutional responses to growing concerns regarding shared health risks at the human, animal and environmental interfaces. Although these efforts to work across disciplinary boundaries are welcome, there are also risks in seeking unity, not least the tendency of one health visions to reduce diversity and to under-value the local, contingent and practical engagements that make health possible. This paper uses insights from Geography and Science and Technology Studies along with multi-sited and multi-species qualitative fieldwork on animal livestock and zoonotic influenzas in the UK, to highlight the importance of those practical engagements. After an introduction to one health, I argue that there is a tendency in OWOH visions to focus on contamination and transmission of pathogens rather than the socio-economic configuration of disease and health, and this tendency conforms to or performs what sociologist John Law calls a one world metaphysics. Following this, three related field cases are used to demonstrate that health is dependent upon a patchwork of practices, and is configured in practice by skilled people, animals, micro-organisms and their social relations. From surveillance for influenza viruses to tending animals, good health it turns out is dependent on an ability to construct common sense from a complex of signs, responses and actions. It takes, in other words, more than one world to make healthy outcomes. In light of this, the paper aims to, first, loosen any association between OWOH and a one world-ist metaphysics, and, second, to radicalize the inter-disciplinary foundations of OWOH by both widening the scope of disciplinarity as well as attending to how different knowledges are brought together.
Topics: Animals; Birds; Environmental Health; Global Health; Health Policy; Humans; Influenza in Birds; Risk Factors; Social Conditions; Socioeconomic Factors; Zoonoses
PubMed: 25022470
DOI: 10.1016/j.socscimed.2014.07.007 -
Journal of Veterinary Internal Medicine 2023Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had...
Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH) D concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D. Necropsy revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D-dependent rickets was diagnosed. A truncating mutation in the 1α-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D-dependent rickets type 1A can occur in young pugs, and if left untreated is a life-threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.
Topics: Animals; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase; Rickets; Vitamin D; Mutation; Diet
PubMed: 37293695
DOI: 10.1111/jvim.16791 -
South Dakota Medicine : the Journal of... Jun 2021Mild to moderate vitamin D deficiency is common in pediatric patients in the U.S. Severe hypovitaminosis D has been linked to specific risk factors, such as female...
PURPOSE/BACKGROUND
Mild to moderate vitamin D deficiency is common in pediatric patients in the U.S. Severe hypovitaminosis D has been linked to specific risk factors, such as female gender, obesity, winter season, darker skin, lack of exposure to the sun, and low vitamin D intake. It has been reported that adolescents usually experience less severe clinical symptoms than young children with vitamin D deficiency. We present a previously healthy 15-year-old Caucasian male with bilateral spontaneous femoral fracture due to severe hypovitaminosis rickets. He had unusual eating habits such as avoiding dairy, vegetables, and fruits. In addition to always preferring to eat alone due to anxiety. Patient is underweight with a BMI z score of -4.05 at time of presentation. Due to lack of interest in physical activities, the patient spent most of his time indoors.
DESIGN/METHODS
This is a case report of a patient who presented to the children's hospital for further workup for bilateral spontaneous femoral fractures.
FINDINGS/RESULTS
Laboratory work up revealed that his 25 hydoxy-vitamin D level was less than 4 ng/ml, calcium level was 5.7 mg/dl (8.4-10.5mg/dL), and phosphorus was 3.5 mg/dl (3.7-4.7 mg/dl). His intact parathyroid hormone was elevated at 555 pg/ml (14-95 pg/ml) and alkaline phosphatase was elevated at 777 U/L (91-339 U/L). A wrist x-ray showed widening of the distal radial and ulnar metaphyses with metaphyseal cupping. Further labs showed macrocytic anemia and severe vitamin B12 deficiency. Workup for malabsorption was negative. Patient underwent bilateral open hip reduction internal fixation. Hypovitaminosis D and hypocalcemia were treated with calcium carbonate and oral vitamin D3 supplements. His follow up laboratory evaluation showed normalization of his calcium, phosphorus, PTH, alkaline phosphatase, and vitamin D levels. Repeat wrist X-ray two months later revealed marked improvement in the appearance of the distal radial and ulnar growth plates and metaphyseal regions.
CONCLUSIONS
This patient's vitamin D deficiency/rickets was found to be secondary to malnutrition due to limited intake, along with limited sunlight exposure. We recommend that a detailed dietary history is obtained in every adolescent patient to evaluate for proper vitamin D intake, especially in patients who are significantly underweight. If vitamin D deficiency is expected, vitamin D level should be checked and appropriate treatment should be initiated once vitamin D insufficiency is confirmed.
Topics: Adolescent; Femoral Fractures; Humans; Male; Parathyroid Hormone; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 34449164
DOI: No ID Found -
European Journal of Human Genetics :... Oct 2023Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short...
Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia. To date, only four variants have been reported; one nonsense, one splice-site, and two frameshifts in five AMDP families. Here, we report the first missense variant and a second splice-site variant in PRKG2 in two patients with clinical and radiological features of acromesomelic dysplasia. Furthermore, functional studies of the novel missense variant, p.Val470Gly, revealed that it was unable to down-regulate FGF2-induced MAPK signaling and, thus, would be predicted to cause growth delay. Hence, this report expands the mutational spectrum in skeletal dysplasias associated with PRKG2 variants. In addition, we propose recognizable facial features with acromesomelic dysplasia, PRKG2 type.
PubMed: 37789084
DOI: 10.1038/s41431-023-01472-z -
American Journal of Medical Genetics.... Jul 2021Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a...
Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Here, we report biallelic SLC29A3 (c.303_320dupCTACTTTGAGAGCTACCT) variant in a three-year-old girl. She had large anterior fontanelle, fracture history, short stature, camptodactyly, elbow contracture, and melanocytic nevus. Initial skeletal radiographs revealed platyspondyly, dense vertebral endplates (sandwich appearance of the vertebral bodies), diffuse sclerosis of the peripheral side of the pelvic bones, sclerosis of metaphysis and diaphysis of the long bones, metaphyseal widening, and diaphyseal cortical thickening. Mild sclerosis was also present in the skull base, maxilla, rib, scapula, and phalanges. Notably, we observed that sandwich vertebrae appearance significantly resolved and sclerosis of ribs, scapula, pelvis, and long bone metaphysis regressed over a 2.5-year period. However, platyspondyly, metaphyseal widening, and diaphyseal cortical thickening persisted. In conclusion, this study demonstrates spontaneous resolution of osteosclerosis, which was not described previously in patients with dysosteosclerosis.
Topics: Child, Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Nucleoside Transport Proteins; Osteosclerosis; Ribs; Spine; Turkey
PubMed: 33837634
DOI: 10.1002/ajmg.a.62198 -
Scientific Reports Oct 2018Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial...
Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. The pathogenesis of CMD remains largely unknown, and treatment for CMD is limited to surgical intervention. We have reported that knock-in mice (Ank) carrying a F377del mutation in ANK (NM_020332, mouse ANK) replicate many features of CMD. Interestingly, ablation of the Ank gene in Ank mice also leads to several CMD-like phenotypes. Mutations causing CMD led to decreased steady-state levels of ANK/ANKH protein due to rapid degradation. While wild type (wt) ANK was mostly associated with plasma membranes, endoplasmic reticulum (ER), Golgi apparatus and lysosomes, CMD-linked mutant ANK was aberrantly localized in cytoplasm. Inhibitors of proteasomal degradation significantly restored levels of overexpressed mutant ANK, whereas endogenous CMD-mutant ANK/ANKH levels were more strongly increased by inhibitors of lysosomal degradation. However, these inhibitors do not correct the mislocalization of mutant ANK. Co-expressing wt and CMD-mutant ANK in cells showed that CMD-mutant ANK does not negatively affect wt ANK expression and localization, and vice versa. In conclusion, our finding that CMD mutant ANK/ANKH protein is short-lived and mislocalized in cells may be part of the CMD pathogenesis.
Topics: Animals; Bone Diseases, Developmental; Cells, Cultured; Craniofacial Abnormalities; Humans; Hyperostosis; Hypertelorism; Mice; Mutation; Phosphate Transport Proteins; Proteasome Endopeptidase Complex; Protein Stability; Rats; Saccharomyces cerevisiae; Ubiquitination
PubMed: 30356088
DOI: 10.1038/s41598-018-34157-5 -
Indian Journal of Orthopaedics Jul 2021Depressed lateral tibial plateau fractures with a large central or posterior fragment can be seen in isolation or association with complex proximal tibia fractures....
Depressed lateral tibial plateau fractures with a large central or posterior fragment can be seen in isolation or association with complex proximal tibia fractures. Conventionally elevation of the large depressed fragment is done by bone tamp through a medial metaphyseal window in isolated fractures, or the fractured window in associated complex fracture scenarios. Though various instruments have been devised for this purpose, reaching the posterior aspect of lateral condyle through the medial metaphyseal window is not always easy, considering the difficulty in aiming and trajectory. Excessive maneuvering can result in the widening of the medial metaphyseal window, leaves a large metaphyseal void, intraarticular penetration of elevating device, and comminution of the depressed fragment. Described herein is an alternate percutaneous technique for effective reduction of selected lateral tibial plateau depression fractures using Steinmann pin. Twenty- one patients with at least 1-year follow-up with successful outcomes have benefitted from this reduction technical tip thus far.
PubMed: 34306563
DOI: 10.1007/s43465-021-00391-9 -
Annali Di Stomatologia 2017Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth...
INTRODUCTION
Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form.
CASE REPORT
We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made.
CONCLUSION
After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.
PubMed: 29299192
DOI: 10.11138/ads/2017.8.2.045 -
Clinica Chimica Acta; International... May 2016Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long...
BACKGROUND
Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes.
CASE REPORT
A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal β-C-terminal telopeptide of type I collagen (β-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9.
CONCLUSIONS
Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert.
Topics: Alkaline Phosphatase; Bone Diseases, Developmental; Craniofacial Abnormalities; Exons; Female; Heterozygote; Humans; Hyperostosis; Hypertelorism; Hypocalcemia; Hypophosphatemia; Infant; Male; Mutation; Parathyroid Hormone; Pedigree; Phosphate Transport Proteins; Rickets
PubMed: 26820766
DOI: 10.1016/j.cca.2016.01.021 -
Annals of Pediatric Endocrinology &... Sep 2016Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in encoding the 1α-hydroxylase enzyme. We...
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.
PubMed: 27777911
DOI: 10.6065/apem.2016.21.3.169