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Calcific uremic arteriolopathy (CUA), also known as calciphylaxis, is a rare condition most frequently seen in patients with advanced chronic kidney disease. The clinical picture is characterized by painful skin lesions and ulcerations. The underlying pathology is medial calcification and intimal proliferation with microthrombi of small arteries. CUA is commonly associated with secondary hyperparathyroidism and high serum calcium and phosphate products. This article reports an atypical case where CUA developed after parathyroidectomy and in the course of treatment of hungry bone syndrome. The patient was on hemodialysis for 14 years. He had developed secondary hyperparathyroidism and severe osteodystrophy. Calcium, Vitamin-D supplements, and calcimimetics failed to control his condition. He underwent parathyroidectomy but developed hungry bone syndrome postoperatively. He was managed with large doses of calcium and active Vitamin-D analogs to maintain his serum calcium. Two weeks later, he developed a painful single lesion on the tip of the penis which was diagnosed as CUA on clinical and radiographic evidence. The patient refused surgical intervention and opted for traditional treatment with honey and herbs with an excellent outcome. The case highlights the risk of CUA complicating the aggressive management of post-parathyroidectomy hungry bone syndrome.

Secondary nutritional hyperparathyroidism is a condition caused by increased serum phosphorus levels compared to calcium, which leads to an growth in the production of the PTH, parathyroid hormone of the parathyroid glands, increasing the osteoclastic activity withdrawing calcium from the bones, forming fibrous tissue, known as osteodystrophy, usually in the facial bones. The goal of this paper was to report an atypical case of hyperparathyroidism and fibrous osteodystrophy in a 8-year-old lactating mare, whose face enlargement was focal and nodular, involving of the right nostril and incisor bones, causing breathing and feeding difficulties. In the radiological examination the image was suggestive of osteosarcoma, with Doppler showing superficial circulation to the nodular mass. Treatment with cisplatin and calcium supplementation was performed. The the patient died three days after a temporary tracheostomy and a biopsy procedure. At necropsy parathyroid’s lymphadenomegaly was confirmed by histopathology, and osteodystrophy in the maxillary region was observed. In this case, hyperparathyroidism did not presented itself as a typical form, and there is a need for further studies on possible atypical forms of the disease on tropical countries. El hiperparatiroidismo secundario a la nutrición es una afección causada por los altos niveles de fósforo en suero en comparación con el calcio que conduce a un aumento en la producción de parathormonio, hormona paratiroidea en las glándulas paratiroides, de modo que aumenta la actividad osteoclástica, secuestrando el calcio de los huesos y formando tejido fibroso. caracterizado como osteodistrofia que ocurre comúnmente en los huesos faciales. Este artículo tiene como objetivo describir un caso atípico de hiperparatiroidismo y osteodistrofia fibrosa en una yegua lactante de 8 años cuya cara tenía un agrandamiento focal y nodular que involucraba la fosa nasal derecha y los huesos incisivos que causaban dificultades para respirar y alimentarse. Los exámenes radiológicos sugirieron osteosarcoma con Doppler que indica circulación superficial a la masa nodular. El tratamiento se realizó con suplementos de cisplatino y calcio. El paciente falleció tres días después de realizar la traqueotomía temporal y los procedimientos de biopsia. Los hallazgos de la necropsia indicaron linfadenomegalia paratiroidea, confirmada por histopatología además de osteoartritis en la región maxilar. En este caso, el hiperparatiroidismo no apareció de manera típica, con la necesidad de más estudios sobre la posible atipia de la enfermedad en los países tropicales. O hiperparatireoidismo secundário à nutrição é uma condição causada por altos níveis séricos de fósforo em comparação ao cálcio levando a um aumento na produção de PTH, hormônio paratireoidiano das glândulas paratireoides de maneira que a atividade osteoclástica aumente, sequestrando cálcio dos ossos e formando um tecido fibroso caracterizado como osteodistrofia que ocorre comumente nos ossos faciais. Este artigo tem como objetivo descrever um caso atípico de hiperparatireoidismo e osteodistrofia fibrosa em uma égua em lactação de 8 anos cuja face possuía um aumento focal e nodular envolvendo a narina direita e os ossos incisivos causando dificuldades respiratórias e alimentares. Os exames radiológicos foram sugestivos de osteossarcoma com o Doppler indicando circulação superficial a massa nodular. O tratamento foi efetuado com cisplatina e suplementação de cálcio. O paciente foi a óbito três dias após a realização dos procedimentos de traqueostomia temporária e biópsia. Os achados de necropsia indicaram linfadenomegalia da paratireóide, confirmada pela histopatologia além de osteodistrofia na região maxilar. Neste caso o hiperparatireoidismo não se apresentou de maneira típica, havendo uma necessidade de estudos posteriores sobre possíveis atipias da doença em países tropicais.

Vitamin D is a fat-soluble vitamin that involved mainly for intestinal absorption of calcium with the regulation of calcium/phosphorus hemostasis, bone formation and remodeling, and anti-inflammatory with immune-modulating advantages. Insufficient solar UVB irradiation and/or lack of vitamin D in diet could induce a deficiency of vitamin D in animals and humans that manifested by poor appetite and growth and consequently leads to osteomalacia and osteodystrophy. A wide range of non-skeletal disorders, neoplastic, cardiovascular, and auto-immune diseases are attributed to vitamin D deficiency. This current review is presenting an overview of the origin/source, metabolism and activation, biology, physiology and functions, and the pathology of vitamin D in human and domestic animals. Special topics of vitamin D deficiency, toxicity, and rickets are also detailed in this review. In conclusion, maintenance of a normal serum level of active form of vitamin D prevents the occurrence of broad ranges of disorders and diseases. Beside enhance the weight gain and the growth of the growing animals, normal levels of vitamin D may also play a crucial role as immune-modulating factors for making animals and people resistant against contagious diseases such as hemorrhagic septicemia and coronavirus (COVID-19).

According to the data of Samara Veterinary Laboratory, in serum of cattle in 40.7 % of studied samples the calcium indicators have low values while increasing the level of inorganic phosphorus by 18.2 %, which indicates a significant prevalence and severe form of nutritional osteodystrophy in animals of the examined farms. The therapeutic use of a protein-mineral additive based on yeast autolysate, fodder bentonite, mono calcium phosphate and chalk in the general complex of therapeutic measures for alimentary osteodystrophy of lactating cows stimulates mineral metabolism, normalizing the calcium-phosphorus ratio, and has a positive effect on the milk productivity, increasing milk yield by 41.9 %. The preparation helps to stimulate hemoand erythropoiesis and has an anti-toxic effect on liver. The use of the additive allows increasing the economic efficiency of milk productivity during alimentary osteodystrophy of cows by 11.2 %.

Bone is a dense, semi rigid, porous, calcified connective tissue forming the major portion of the skeleton of most vertebrates. It consists of a dense organic matrix and an inorganic mineral component. Bone remodelling is a complex process by which old bone is continuously replaced by new tissue, which requires interaction between different cell phenotypes and is regulated by a variety of biochemical and mechanical factors. In a homeostatic equilibrium, the process of resorption and formation are balanced so that old bone is continuously replaced by new tissue and it adapts to mechanical load and strain. Several local and systematic factors which cause disturbances in bone resorption and deposition leads to abnormal or defective development of bone commonly termed as osteodystrophy - A defective ossification of bone usually is associated with disturbed calcium and phosphorus metabolism. The better understanding of molecular cellular biology and pathogenic mechanism aids to define the abnormalities in osteoblastic and osteoclastic lineages and to develop new therapeutic approaches.

Background: Distal radial fractures account for up to 20% of all fractures treated in emergency departments, many are not “completely exempt from pain” after treatment. Several treatment modalities have been described with their own merits and demerits. Stabilization of ulno-carpal articulation is an effective method to prevent radial collapse and other complications associated with external fixator during healing, and hence this study has been designed to get a solution with good outcome and minimal complication. Materials and Methods: A prospective study on eighty patients of comminuted intra-articular fracture of the lower end of the radius, between 30 and 65 years of age, irrespective of sex, treated by closed reduction and ulno-carpal stabilization maintaining ligamentotaxis and distal radius percutaneous K-wires fixation and a well-molded above-elbow Plaster of Paris cast for 4 weeks followed by removal of K-wire and below-elbow cast for 2 weeks, has been presented. Patients were evaluated at 6-month follow-up and functionally by Sarmiento's modification of Lindstrom criteria and Gartland and Werley's criteria. Results: Excellent results were seen in 85%, good in 11.25%, and fair in 4.75% of the cases. Complications observed were malunion (n = 2), subluxation of the inferior radio-ulnar joint (n = 2), Sudeck's osteodystrophy (n = 1), and posttraumatic arthritis of the wrist (n = 2). Conclusion: The closed reduction and percutaneous K-wire fixation is a least invasive, safer, and effective method to maintain the reduction, prevent radial collapse during healing, and maintain the stability of the distal radio-ulnar joint even when the fracture is grossly comminuted, intra-articular, or unstable.

Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. The new term "inactivating PTH/PTHrP signaling disorder," iPPSD: (1) defines the common mechanism responsible for all diseases, (2) does not require a confirmed genetic defect, (3) avoids ambiguous terms like "pseudo," and (4) eliminates the clinical or molecular overlap between diseases.

Pseudohypoparathyroidism (PHP) is a rare heterogenous group of disorders characterized by end-organ resistance to PTH, specifically at the proximal renal tubule. The term PHP encompasses PHP 1A, PHP 1B, PHP 1C, PHP 2 and pseudopseudohypoparathyroidism (PPHP). The two most common subtypes are PHP 1A and PHP 1B, PHP 1A, PHP 1C and PPHP have the Albrights hereditary osteodystrophy (AHO) phenotype, in addition to end-organ resistance to PTH in the two former subtypes.

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.

Introduction: Otospongiosis is temporal bone osteodystrophy, characterized by disordered bone resorption and neoformation in genetically predisposed individuals. Clinically, otospongiosis is characterized by progressive conductive and/or mixed hearing loss and by tinnitus. Objective: A review of the last two decades of publications that report the degree of tinnitus improvement with stapes surgery. Methods: 125 articles published in the last 20 years mentioning the relationship between otosclerosis and tinnitus. Literature has always shown that the hearing improvement after stapes surgery was the main result sought and found. However, recent articles has reinforced the need for surgery for the tinnitus improvement. The ideal time to assess tinnitus through different scales is in the sixth month post-operative. The estimated average hearing improvement is 93% and tinnitus is 85.52%. Results: Summaries of 12 articles were reviewed which fulfilled the search criteria of the survey, and 8 studies were included in the study according the selection criteria. This studies investigating the degree of tinnitus improvement with stapes surgery, using different scales as: tinnitus functional index, visual analog scale, tinnitus functional index and visual analog scale, visual analog scale and “questionnaire asking about tinnitus”, Newman's method and Tinnitus Score Advocated by the Japan Audiological Society. The total of the samples of the evaluated articles was of 254 participants. Conclusion: We conclude that stapes surgery is effective for the treatment of tinnitus (average improvement is 85.52%), and hearing loss (average improvement is 93%). When deciding about the surgical indication in patients with otosclerosis, the presence and level tinnitus should be considered as well as the level of hearing. Resumo: Introdução: A otosclerose é uma osteodistrofia do osso temporal, caracterizada pela reabsorção e neoformação óssea desordenadas em indivíduos geneticamente predispostos. Clinicamente, a otosclerose é caracterizada por perda auditiva progressiva condutiva e/ou mista e por zumbido. Objetivo: Uma revisão das últimas duas décadas de publicações que relatam o grau de melhora do zumbido com a estapedectomia Método: Foram analisados 125 artigos publicados nos últimos 20 anos que mencionavam a relação entre otosclerose e zumbido. A literatura sempre mostrou a melhoria auditiva como principal objetivo e resultado da estapedectomia. No entanto, artigos recentes reforçaram a necessidade de cirurgia para a melhoria do zumbido. O momento ideal para avaliar o zumbido através de diferentes escalas é no sexto mês pós-operatório. A melhoria auditiva média estimada é de 93% e a do zumbido, de 85,52%. Resultados: Foram revisados resumos de 12 artigos que preencheram os critérios de pesquisa, sendo incluídos no estudo 8 artigos de acordo com os critérios de seleção. Este estudo investiga o grau de melhora do zumbido com a estapedectomia, utilizando diferentes escalas: tinnitus functional index, escala visual analógica, tinnitus functional index e escala visual analógica, escala visual analógica e “questionário sobre o zumbido”, método de Newman e o Tinnitus Score Advocated, da Sociedade Audiológica do Japão (Japan Audiological Society). O total das amostras dos artigos avaliados foi de 254 participantes. Conclusão: Concluímos que a estapedectomia é bastante eficaz no tratamento do zumbido (melhora média de 85,52%) e perda auditiva (melhora média de 93%). Ao decidir sobre a indicação cirúrgica em pacientes com otosclerose, a presença e o nível de zumbido devem ser considerados, assim como o nível de audição. Keywords: Otosclerosis, Tinnitus, Stapes surgery, Palavras-chave: Otosclerose, Zumbido, Estapedectomia

Alagille syndrome (ALGS) is a rare multisystem congenital disorder, with a minimum incidence of approximately 1:30,000 live births. It is an autosomal dominant disease that arises from mutations in the Jagged1 (JAG1) gene (approximately 60% of cases are caused by de novo mutations), which encodes a ligand for Notch receptors. The most common symptoms associated with this syndrome are cholestasis with the obstruction or slowing of biliary flow, congenital heart disease (pulmonary artery stenosis), and butterfly-shaped vertebrae, anterior chamber eye defects, and dysmorphic faces. Several of the characteristics of Alagille syndrome may result in patients having an especially high risk of fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. Case presentation; A 6-months-old girl admitted to pediatric surgery unit with jaundice since one month of age, progressive abdominal distention. She had been diagnosed with biliary atresia at the age of 1 month on the base of clinical diagnosis, she was malnourished with stunted growth. She had most of the features of Alagille syndrome. Chest radiographs showed generalized decreased in bone density with multiple ribs fractures on the left side, with pulmonary consolidation in the left middle and lower zone. Osteodystrophy (haptic cause) was enrolled based on the fact that there was no evidence or history of trauma (child abuse by the family was not considered). Our study is one of a few reports to document ribs fracture in children with AGLS.

Progressive chronic kidney diseases (CKDs) are on the rise worldwide. However, the sequence of events resulting in CKD progression remain poorly understood. Animal models of CKD exploring these issues are confounded by systemic toxicities or surgical interventions to acutely induce kidney injury. Here we report the generation of a CKD mouse model through the inducible podocyte-specific ablation of an essential endogenous molecule, the chromatin structure regulator CCCTC-binding factor (CTCF), which leads to rapid podocyte loss (iCTCFpod–/–). As a consequence, iCTCFpod–/– mice develop severe progressive albuminuria, hyperlipidemia, hypoalbuminemia, and impairment of renal function, and die within 8–10 weeks. CKD progression in iCTCFpod–/– mice leads to high serum phosphate and elevations in fibroblast growth factor 23 (FGF23) and parathyroid hormone that rapidly cause bone mineralization defects, increased bone resorption, and bone loss. Dissection of the timeline leading to glomerular pathology in this CKD model led to the surprising observation that podocyte ablation and the resulting glomerular filter destruction is sufficient to drive progressive CKD and osteodystrophy in the absence of interstitial fibrosis. This work introduces an animal model with significant advantages for the study of CKD progression, and it highlights the need for podocyte-protective strategies for future kidney therapeutics.

25-hydroxyvitamin D [25(OH)D] may not optimally indicate vitamin D receptor activity. Higher concentrations of its catabolic product 24,25-dihydroxyvitmin D [24,25(OH)2D] and a higher ratio of 24,25(OH)2D to 25(OH)D (the vitamin D metabolite ratio [VMR]) may provide additional information on receptor activity. We compared the strength of associations of these markers with serum PTH concentrations, hip bone mineral density (BMD), and risk of incident hip fracture in community-living older participants in the Cardiovascular Health Study. Among 890 participants, the mean age was 78 years, 60% were women, and the mean 25(OH)D was 28 ± 11 ng/ml. In cross-sectional analysis, the strength of association of each vitamin D measure with PTH was similar; a 1% higher 25(OH)D, 24,25(OH)2D, and VMR were associated with 0.32%, 0.25%, and 0.26% lower PTH, respectively (p< 0.05 for all). Among 358 participants with available BMD data, we found no associations of 25(OH)D or VMR with BMD, whereas higher 24,25(OH)2D was modestly associated with greater hip BMD (1% higher 24,25(OH)2D associated with 0.04% [95% CI 0.01−0.08%] higher BMD). Risk of incident hip fracture risk was evaluated using a case-cohort design. There were 289 hip fractures during a mean follow up time of 8.4 years. Both higher 24,25(OH)2D and VMR were associated with lower risk of hip fracture (HR per SD higher, 0.73 [0.61, 0.87] and 0.74 [0.61, 0.88], respectively) whereas 25(OH)D was not associated with hip fracture (HR 0.93 [0.79, 1.10]). We conclude that evaluating vitamin D status by incorporating assessment of 24,25(OH)D and the VMR provides information on bone health above and beyond 25(OH)D alone.

Objective: To determine the frequency of different patterns of renal osteodystrophy in end stage renal failure patients on maintenance haemodialysis visiting at tertiary care Hospital, Karachi. Methodology: A Cross sectional study was conducted at Nephrology Department, Jinnah Postgraduate Medical Center, Karachi from April to October 2009. Fifty-six (56) patients on maintenance hemodialysis were included through non-probability purposive sampling. Various biochemical parameters of renal osteodystrophy were included in the current study. Serum corrected calcium, phosphate, and alkaline phosphatase and iPTH levels. Chi square test was used to determined frequency of renal osteodystrophy in ESRD patients. Results: Mean age was 45.85 ± 13.5 years. 34 (61%) were male and 22 (39%) were female. Renal osteodystrophy was found in 89%. The most common type was secondary hyperparathyroidism (Osteitis Fibrosa Cystica) in 32%. Hypophosphatemia was observed in 62% while hypercalcaemia in only 7%. Osteomalacia was common in adolescent age group (66%), Osteitis Fibrosa Cystica (OFC) in adult group (36%) while mixed variety in elder group (50%). Similarly OFC was the most common pattern in both genders. Conclusion: In the present study it was concluded that the prevalence of renal osteodystrophy was significantly increased. Secondary hyperparathyroidism (Osteitis Fibrosa Cystica) is the most common pattern of ROD followed by mixed osteodystrophy and adynamic bone disease.

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.

Objective Assess the effect of intensive nutrition education by trained dedicated dietitians on osteodystrophy management among hemodialysis patients. Methods Randomized controlled trial in 12 hospital-based hemodialysis units equally distributed over clusters 1 and 2. Cluster 1 patients were either assigned to usual care ( n = 96) or to individualized intensive staged-based nutrition education by a dedicated renal dietitian ( n = 88). Cluster 2 patients ( n = 210) received nutrition education from general hospital dietitians, educating their patients at their spare time from hospital duties. Main outcomes were: (1) dietary knowledge(%), (2) behavioral change, (3) serum phosphorus (mmol/L), each measured at T0 (baseline), T1 (post 6 month intervention) and T2 (post 6 month follow up). Results Significant improvement was found only among patients receiving intensive education from a dedicated dietitian at T1; the change regressed at T2 without statistical significance: knowledge (T0: 40.3; T1: 64; T2: 63) and serum phosphorus (T0: 1.79; T1: 1.65; T2: 1.70); behavioral stages changed significantly throughout the study (T0: Preparation, T1: Action, T2: Preparation). Conclusion The intensive protocol showed to be the most effective. Practice implications Integrating dedicated dietitians and stage-based education in hemodialysis units may improve the nutritional management of patients in Lebanon and countries with similar health care systems.

Osteocytes respond to kidney damage by increasing production of secreted factors important to bone and mineral metabolism. These circulating proteins include the antianabolic factor, sclerostin, and the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Elevated sclerostin levels correlate with increased FGF23, localized reduction in Wnt/β-catenin signaling in the skeleton and reduced osteoblast differentiation/activity. Decreased Wnt/β-catenin signaling occurs regardless of the overall changes in bone formation rates, suggesting that a reduction in the anabolic response may be a common feature of renal bone disorders but additional mechanisms may contribute to the diversity of osteodystrophy phenotypes. Recent preclinical studies support this hypothesis, as treatment with antisclerostin antibodies improved bone quality in the context of low but not high turnover renal osteodystrophy. Sclerostin also appears in the circulation suggesting additional roles outside the skeleton in normal and disease states. In patients with chronic kidney disease (CKD), serum levels are elevated several fold relative to healthy individuals. Emerging data suggest that these changes are associated with increased fracture rates but the relationship between sclerostin and cardiovascular disease is unclear. Additional epidemiologic studies that examine stage specific and patient sub-populations are needed to assess whether sclerostin elevations influence comorbidities associated with CKD.

A long-term dialysis patient with end-stage renal disease (ESRD) also referred to as chronic kidney disease (CKD) due to IgA nephropathy complicated by severe secondary hyperparathyroidism and renal osteodystrophy was successfully treated with dental implant-supported fixed prostheses. Phosphate binders, vitamin D, calcium cinacalcet calcimimetic therapy, and dialysis 3 times weekly had been instituted with standard divalent ion serum assessments. Successful control of the patient's secondary hyperparathyroidism was achieved. Long and wide diameter implants were used with an anterior guidance occlusion scheme to reduce the per-square-millimeter off-axial implant force delivered to the bone. Patients with ESRD and renal osteodystrophy may be successfully surgically and prosthetically treated with long wide dental implants supporting fixed full arch splinted dental prostheses with an appropriate occlusal scheme.

Interstitial deletions of the long arm of chromosome 20 are rarely reported in the literature. We report a 2-year-old child with a 2.6 Mb deletion of 20q13.32-q13.33, detected by microarray-based comparative genomic hybridization, who presented with poor growth, feeding difficulties, abnormal subcutaneous fat distribution with the lack of adipose tissue on clinical examination, facial dysmorphism and low bone mass. This report adds to rare publications describing constitutional aberrations of chromosome 20q, and adds further evidence to the fact that deletion of the GNAS complex may not always be associated with an Albright's hereditary osteodystrophy phenotype as described previously.

Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain), seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large facial nevus at the birth time, recurrent severe seizures and drolling in 9 months of life without any treatment, was admitted because of severity of seizure, headache and weakness. Conducted follow up on here, indicated that she had Sturge –Weber syndrome with oro- maxilla -facial osteodystrophy. Conclusion: One of the rare radiological symptoms in Sturge Weber syndrome is oro-maxillo-facial osteodystrophy, by this time only few cases had been reported. All of the symptoms of this syndrome were found in our described patient

Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. In this case, 41-year-old male presented with the classic features of pseudohypoparathyroidism and with 59 lbs weight gain over six months. It was determined that the cause of the patient's weight gain was due to concomitant hypothyroidism, which is a common association. There are several non-classic features and associated pathologies associated with pseudohypoparathyroidism. These conditions should be regularly screened for and assessed when a patient presents with pseudohypoparathyroidism.

BackgroundThe Nutrition Education for Management of Osteodystrophy trial showed that stage-based nutrition education by dedicated dietitians surpasses existing practices in Lebanon with respect to lowering serum phosphorus among general haemodialysis patients. The present study explores the effect of nutrition education specifically on hyperphosphataemic patients from this trial.MethodsHyperphosphataemic haemodialysis patients were allocated to a dedicated dietitian (DD), a trained hospital dietitian (THD) and existing practice (EP) protocols. From time-point (t)-0 until t-1 (6 months), the DD group (n = 47) received 15 min of biweekly nutrition education by dedicated dietitians trained on renal nutrition; the THD group (n = 89) received the usual care from trained hospital dietitians; and the EP group (n = 42) received the usual care from untrained hospital dietitians. Patients were followed-up from t-1 until t-2 (6 months). Analyses used two-way repeated measures analysis of variance and Cohen's effect sizes (d).ResultsAt t-1, phosphataemia significantly decreased in all groups (DD:-0.27 mmol L-1; EP:-0.15 mmol L-1; THD:-0.12 mmol L-1; P ConclusionsThe results of the present study suggest that the DD protocol decreases serum phosphorus compared to EP and THD, at the same time as maintaining the nutritional status of hyperphosphataemic haemodialysis patients. Assessing the cost-effectiveness of the DD protocol is recommended.

BACKGROUND AND OBJECTIVES: In dialysis patients, there is an increasing evidence that altered bone metabolism is associated with cardiovascular calcifications. The main objective of this study was to analyse, in hemodialysis patients, the relationships between bone turnover, mineralization and volume, evaluated in bone biopsies, with a plain X-ray vascular calcification score. DESIGN, SETTING, PARTICIPANTS AND MEASUREMENTS: In a cross-sectional study, bone biopsies and evaluation of vascular calcifications were performed in fifty hemodialysis patients. Cancellous bone volume, mineralized bone volume, osteoid volume, activation frequency, bone formation rate/bone surface, osteoid thickness and mineralization lag time were determined by histomorphometry. Vascular calcifications were assessed by the simple vascular calcification score (SVCS) in plain X-Ray of pelvis and hands and, for comparison, by the Agatston score in Multi-Slice Computed Tomography (MSCT). RESULTS: SVCS≥3 was present in 20 patients (40%). Low and high bone turnover were present in 54% and 38% of patients, respectively. Low bone volume was present in 20% of patients. In multivariable analysis, higher age (p = 0.015) and longer hemodialysis duration (p = 0.017) were associated with SVCS≥3. Contrary to cancellous bone volume, the addition to this model of mineralized bone volume (OR = 0.863; 95%CI: 0.766, 0.971; p = 0.015), improved the performance of the model. For each increase of 1% in mineralized bone volume there was a 13.7% decrease in the odds of having SVCS≥3 (p = 0.015). An Agatston score>400 was observed in 80% of the patients with a SVCS≥3 versus 4% of patients with a SVCS

Indoxyl sulfate is a uremic toxin, and cannot be removed efficiently by hemodialysis due to its protein-binding. Indoxyl sulfate induces cellular dysfunction by producing reactive oxygen species (ROS) such as superoxide by activating nicotinamide adenine dinucleotide phosphate oxidase, and by activating aryl hydrocarbon receptor through its uptake via organic anion transporters (OAT1 and OAT3). Indoxyl sulfate shows toxic effects on a variety of cells such as renal proximal tubular cells, glomerular mesangial cells, vascular smooth muscle cells, vascular endothelial cells, cardiomyocytes, cardiac fibroblasts, monocytes, osteoblasts, osteoclasts, and myocytes. Indoxyl sulfate stimulates the progression of chronic kidney disease (CKD), cardiovascular disease (CVD), osteodystrophy, and sarcopenia. The carbon adsorbent AST-120 might be useful to delay the progression of not only CKD but also CVD, osteodystrophy, and sarcopenia by adsorbing its precursor, indole, in the intestines, and consequently reducing the serum levels of indoxyl sulfate. In this review, the author provides an overview on the current status of knowledge on the effects of AST-120 on uremic toxins, CKD animals, CKD patients, and CKD patients with CVD, and safety of AST-120. A large clinical study (EPPIC-1 and EPPIC-2) has failed to demonstrate the efficacy of AST-120 on the progression of CKD. However, the post-hoc subgroup analysis suggested that AST-120 might delay the progression of CKD patients. Further clinical studies are required to demonstrate the clinical efficacy of AST-120 on the progression of CKD by administering AST-120 only to those patients with progressive CKD and good compliance.

Patient complains of increasing anorexia and nausea coupled with weight gain, severe itchiness and muscle cramps. Processes that facilitate progression to end-stage kidney disease in the obese and diabetic patient are examined including deleterious effects of hyperglycemia, dysregulation of the renin–angiotensin–aldosterone system, oxidative damage, medullary hypoxia, progressive metabolic acidosis, and interglomerular hemodynamic and structural alterations. Published guidelines for managing the patient with chronic kidney disease are presented, with emphasis on current guidelines for protein and vitamin D intake. Evidence for targeted dietary strategies to optimize gut microbiota and modulate hyperglycemia and dyslipidemia are discussed, as well as strategies to optimize electrolyte levels and acid load, maintain bone integrity, and reduce risk for arterial calcification in the CKD patient. Special emphasis is placed on strategies to reduce the deleterious effects of high sodium and phosphorus intake on kidney injury, osteodystrophy, and calciphylaxis.

Paleoecological analysis of over 1500 mammoth remains from the famous non-archaeological Berelyokh site (∼13–12 ka BP) has demonstrated that ∼ 42% show destructive changes (osteoporosis, osteolysis, osteofibrosis, osteomalacia, articular diseases and others). For the first time, non-closure of cervical vertebral foramina transversaria and loose intra-articular bodies have been recorded in mammoths. The overall pathological picture resembles that of Kashin-Beck (or Urovskaya) disease, the etiology of which is associated with mineral starvation. The alimentary (dietary/nutritional) character of the observed osteodystrophy can be explained by the strong acidification of geochemical landscapes, which is manifested in the territory of Northern Eurasia after 30 ka BP and especially clearly during the Late Glacial (∼15–10 ka BP). Thus, the Berelyokh site reflects the terminal stage of the last mass extinction of large mammals.

CASE: The authors describe the case of an 8-year-old boy with pansynostosis in the context of Albright's hereditary osteodystrophy (AHO). This condition had lead to raised intracranial pressure (ICP). The elevated ICP was a consequence of the rigid skull impeding brain growth. Therefore, a decompressive cranioplasty was performed successfully, leaving further space for the growing brain. Affection of the central nervous system has been documented in AHO. However, affection of the skull bones has rarely been described in literature.CONCLUSION: We suggest that craniosynostosis may develop in patients with AHO and other types of pseudohypoparathyroidism (PHP). Furthermore, we suggest regular head circumference-for-age and ophthalmic examination for children with AHO or other types of PHP.

Objectives/Hypothesis Fibrous dysplasia is a condition of nonmalignant osseous change and may occur in a monostotic or polyostotic pattern, the latter potentially being associated with McCune-Albright syndrome. Symptoms are highly variable and dependent upon lesion location and size. Study Design Retrospective review. Methods Consecutive subjects with fibrous dysplasia of the temporal bone were evaluated between 2000 and 2013 at two tertiary academic referral centers. Main outcome measures included disease presentation, diagnostic evaluation, management strategy, and outcome. Results Sixty-six patients with fibrous dysplasia of the skull were found to have involvement of the temporal bone. The mean age at diagnosis was 25 years, 39 (59%) were female, and the mean duration of follow-up was 48 months. Six (11%) patients had monostotic disease, with the remaining 60 (89%) patients having the polyostotic form; 16 (24%) patients had McCune-Albright syndrome. The most common presenting complaint was headache (59%), followed by hearing loss (29%). The most common exam finding was cosmetic deformity (50%). Cholesteatoma (3%) and spontaneous cerebrospinal fluid fistula (1.5%) were found in a small percentage. No patients had evidence of motor cranial neuropathy by history or physical examination. Conclusions The clinical presentation of fibrous dysplasia involving the temporal bone is variable. A growing number of patients are diagnosed incidentally through imaging, and since most patients experience a benign course, the majority can be followed clinically without need for intervention. Level of Evidence 4. Laryngoscope, 125:1438–1443, 2015

A retrospective overview of systemic disorders which might be associated with dental pathology is made. They are grouped as follows: (a) congenital dental developmental disorders, (b) chromosomal anomalies, (c) radiations, (d) immune disorders, (e) intoxications, (f) neurological alterations, (g) gastrointestinal diseases, (h) osteodystrophy and associated conditions, (i) skin diseases, (j) metabolic and endocrine disorders, (k) craniofacial malformation syndromes and other congenital general malformations. The associated dental pathology is described in each case.

Summary. Irregular and inadequate feeding of cows is the cause of disadvantaged calving, weak calves at birth, poor development and low productivity of animals. Currently an increasing interest in veterinary specialists raise funds to improve productivity and resistance of productive animals. Special attention should be paid to the therapeutic and prophylactic use most close to natural and environmentally friendly veterinary drugs. They will allow physiological correction of the pathology of farm animals and at the same time will ensure that no animal products are harmful to human health drug metabolites. The results of experimental studies and field tests suggest that immune modulators for wide implementation in practice of industrial livestock and poultry. This is a costeffective and will significantly improve the qualitative and quantitative characteristics of the resulting animal products. Immunomodulators are safe in Toxicological terms and possess a wide spectrum of pharmacological effects. Addition of immunomodulators on the immune system of farm animals favorable effect of humic drugs. They enhance the quality of young animals, reduce the incidence of birth and postpartum pathology breeding stock, increase average daily gain of animals beef cattle productivity, increase resistance and preservation of animals of different species and different technological groups. Humic drugs enhance immunity, increase the activity of the cellular and humoral immunity, reduce the amount of products of lipid peroxidation and increase the activity of enzymes-antioxidants, have a regulating effect on system of a hemopoiesis, normalize synthetic and detoxification of the liver.

Background: Hepatic osteodystrophy is any bone disease in patients with chronic liver disease. To measure bone mineral density (BMD) T-score by bone densitometry (BD) is used, classifying the disease in osteopenia, osteoporosis and severe osteoporosis. There are not criteria for monitoring and detection of osteodystrophy in cases of non-cholestasic cirrhosis. To determine the risk of fracture at 10 years, Fracture Risk Assessment Tool (FRAX), could be useful. Objectives: Determine the frequency of hepatic osteodystrophy in cirrhotic patients according to BD and FRAX and identify associated risk factors. Patients and methods: An observational, analytic, cross-sectional study. We included cirrhotic patients with report of DO and FRAX. Results: 52 patients were included, 38 were female (73.1%). The mean age was 12.29 ± 55.46 year-old, MELD 4.14 ± 11.71. In cholestatic etiology Mayo Score was 2.9 ± 3.31. The BMD was 0.756 ± 0.1896 mg/ cm 2 and T-score -2.34 ± 1.0. Of all patients, 26 (50%) had ranges of osteopenia and 21 (40.4%) of osteoporosis. Fracture risk with FRAX 10-year was 7.77 ± 6,713, and when we added the value of T-score fracture risk was 13.72 ± 12. Higher prevalence of cholestatic diseases in women and viral etiology in men (P = 0.006) was observed. There was significant relationship between cholestatic etiology T-score, alkaline phosphatase, and elderly and FRAXS with T-score (P =

In chronic kidney disease, vascular calcification, renal osteodystrophy, and phosphate contribute substantially to cardiovascular risk and are components of CKD–mineral and bone disorder (CKD-MBD). The cause of this syndrome is unknown. Additionally, no therapy addresses cardiovascular risk in CKD. In its inception, CKD-MBD is characterized by osteodystrophy, vascular calcification, and stimulation of osteocyte secretion. We tested the hypothesis that increased production of circulating factors by diseased kidneys causes the CKD-MBD in diabetic mice subjected to renal injury to induce stage 2 CKD (CKD-2 mice). Compared with non-CKD diabetic controls, CKD-2 mice showed increased renal production of Wnt inhibitor family members and higher levels of circulating Dickkopf-1 (Dkk1), sclerostin, and secreted klotho. Neutralization of Dkk1 in CKD-2 mice by administration of a monoclonal antibody after renal injury stimulated bone formation rates, corrected the osteodystrophy, and prevented CKD-stimulated vascular calcification. Mechanistically, neutralization of Dkk1 suppressed aortic expression of the osteoblastic transcription factor Runx2, increased expression of vascular smooth muscle protein 22-α, and restored aortic expression of klotho. Neutralization of Dkk1 did not affect the elevated plasma levels of osteocytic fibroblast growth factor 23 but decreased the elevated levels of sclerostin. Phosphate binder therapy restored plasma fibroblast growth factor 23 levels but had no effect on vascular calcification or osteodystrophy. The combination of the Dkk1 antibody and phosphate binder therapy completely treated the CKD-MBD. These results show that circulating Wnt inhibitors are involved in the pathogenesis of CKD-MBD and that the combination of Dkk1 neutralization and phosphate binding may have therapeutic potential for this disorder.

Secondary hyperparathyroidism is a frequent complication of patients with chronic kidney disease and is characterized by excessive serum parathyroid hormone levels and an imbalance in calcium and phosphorus metabolism. Secondary hyperparathyroidism is the leading cause of renal osteodystrophy and bone disease. Osteitis fibrosa cystica, the classic and former most common osteodystrophy, is mainly caused by high bone turnover secondary to high levels of circulating PTH. Its pathophysiology is mainly due to hyperphosphatemia and vitamin D deficiency and resistance. This condition has a high impact on the mortality and morbidity of dialysis patients Hyperparathyroidism develops early in the course of CKD and becomes more prominent as kidney function declines. However recently, with the technical development of imaging and laboratory screening methods, hypercalcemia due to primary or secondary hyperparathyroidism can often be detected early; as a result the frequency of osteitis fibrosa cystica has declined. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-1, 60-66 DOI: http://dx.doi.org/10.3126/jcmsn.v9i1.9676

To assess the relevance and availability of subtotal nephrectomized common marmoset monkeys as a chronic renal failure (CRF) model, we observed for 26 weeks the pathophysiological condition of female marmosets subjected to five-sixth surgical nephrectomy (5/6Nx) by a two-step surgical method. The 5/6Nx marmosets showed a significant increase in serum levels of urea nitrogen, creatinine and cystatin-C immediately after 5/6Nx surgery. These renal disorder parameters subsequently tended to decrease with the passage of time but remained higher than the control levels by the end of the study. Hyperplastic parathyroid glands, a high turnover state of osteodystrophy in the femoral bone with higher serum ALP activity and anemia with hypocellularity of bone marrow were evident. The 5/6Nx marmosets showed a stable CRF condition for a long time and some characteristic disorders similar to those observed in CRF patients. These diagnostic aspects might be a species-specific anatomical and physiological signature, reflecting the nutritional condition. The CRF model using 5/6Nx marmosets might become a useful method of evaluating the unique mechanism of CRF development.

Bone mineral density (BMD) decreases postrenal transplantation. Evidence demonstrating the effects of bisphosphonates on BMD and fracture risk beyond 1-year posttransplant is sparse in existing literature, but remains essential to enhance clinical outcomes in this population.Our study aimed to systematically review and meta-analyze the current literature on the use of any bisphosphonate in the adult renal transplant population beyond the first year of renal transplant to determine its effect on BMD and fracture incidence.We conducted a systematic review and meta-analysis of primary research literature that included full-text, English-language, original randomized clinical trials (RCTs) and observational studies.Patient data were primarily captured in an outpatient setting across various studies.Our population of interest was patients older than 18 years who received deceased/living donor kidney transplantation and any bisphosphonate with a follow-up greater than 12 months posttransplantation.The primary outcome was change in BMD from baseline. Secondary outcomes were the incidence of fractures and effects of other confounders on bone health.We included RCTs and observational studies that satisfied our inclusion criteria. Each study was analyzed for risk of bias and data were extrapolated to analyze for overall statistical significance accounting for heterogeneity of studies.Sixteen studies (N = 1762) were analyzed. The follow-up ranged from 12 to 98 months. There was a nonsignificant improvement in BMD with bisphosphonate treatment persisting into the second and third years posttransplant at the lumbar spine. The calculated standardized mean BMD difference was -0.29 (-0.75 to 0.17),Limitations of this review include the use of BMD as a surrogate outcome, the bias of the included studies, and the incomplete reporting data in numerous analyzed studies.We demonstrate no statistically significant benefit of bisphosphonate treatment on BMD beyond the first year postrenal transplantation. Despite heterogeneity of treatment, a differential nonsignificant improvement in lumbar spine BMD was consistent and may be clinically relevant.PROSPERO CRD42019125593.La densité minérale osseuse (DMO) décroit à la suite d’une greffe rénale. Les données probantes faisant état des effets des bisphosphonates sur la DMO et le risque de fracture au-delà d’un an post-greffe sont rares dans la littérature, mais demeurent essentielles pour améliorer les résultats cliniques pour cette population.L’étude actuelle visait à réaliser une revue systématique et une méta-analyse de la littérature faisant état de l’usage des bisphosphonates dans une population de greffés rénaux adultes, au-delà de la première année post-greffe, afin de connaître les effets de cette médication sur la DMO et sur l’incidence de fractures.Une revue systématique et une méta-analyse de la littérature ont été réalisées à partir d’articles rédigés en anglais, présentant les résultats d’essais cliniques et d’études observationnelles.Dans les différentes études, les données provenaient principalement de patients suivis sur une base externe.Notre population d’intérêt était constituée de patients adultes ayant subi une greffe rénale provenant d’un donneur décédé ou vivant, ayant reçu un traitement par un bisphosphonate et ayant été suivis pendant plus de douze mois post-transplantation.L’issue principale était une variation de la DMO par rapport à la valeur initiale. L’incidence de fractures et les effets des autres facteurs de confusion sur la santé osseuse constituaient les issues secondaires.Ont été inclus les essais cliniques et les études observationnelles qui répondaient à nos critères d’inclusion. Chaque étude a fait l’objet d’une analyse des risques de biais et les données ont été extrapolées pour analyser la signification statistique de l’ensemble en tenant compte de l’hétérogénéité des études.Seize études (n=1762) ont été analysées. La période de suivi variait de 12 à 98 mois. Une amélioration non significative de la DMO du rachis lombaire ayant persisté dans la deuxième et la troisième année post-greffe a été observée à la suite d’un traitement par un bisphosphonate. La moyenne normalisée calculée des variations de la DMO s’établissait à -0,29 (-0,75 à 0,17; p=0,22). Seules cinq études ont rapporté de nouvelles fractures, pour un total de 43 fractures. La prise de prednisone (p0,01), un faible poids (p0, 001), un faible IMC (p0,01) et le fait d’être un homme (p0,05) ont corrélé avec une DMO lombaire ou fémorale réduite.Le recours à la DMO comme issue intermédiaire, les biais contenus dans les études incluses et le fait que plusieurs des études analysées comportaient des données incomplètes constituent les limites de l’étude.Nous n’avons pu démontrer un avantage statistiquement significatif sur la DMO à poursuivre un traitement par les bisphosphonates au-delà de la première année suivant une greffe rénale. Malgré l’hétérogénéité du traitement, une amélioration non significative de la DMO lombaire a été observée et pourrait s’avérer pertinente sur le plan clinique.