Hyperbaric Oxygen Therapy: An Effective Auxiliary Treatment Method for Large Jaw Cysts.

Background: To evaluate hyperbaric oxygen therapy (HBOT) on infection rates and repair rates during the treatment of large jaw cysts. Methods: A prospective randomized, non-blinded, controlled clinical trial included 90 patients with jaw cysts, randomly divided into three groups. Patients were treated with enucleations and bone substitute was used in the experimental and control groups. The experimental group received HBOT. The primary predictor variable was HBOT. The infection rate, repair rate, preoperative volume of the jaw cysts, age, and sex were statistically analyzed. The Fisher exact test was used to compare the infection rate and postoperative complications. The repair rate of the bone defects was analyzed using the repeated-measures analysis of variance and the least significant difference tests. The Kendall's coefficient of concordance and Kappa statistics were calculated to evaluate the consistency between the two investigators. Results: The infection rate was 3.4% in the experimental group, 14.3% in the blank group, and 32.1% in the control group (P<0.05). The repair rate in the experimental group was significantly higher than in the control and blank groups at 1, 3 and 6 months after surgery (P<0.05). Conclusion: The results showed that HBOT reduced the postoperative infection rate following the enucleation of large jaw cysts with bone substitute filling, and it also improved the bone repair rate.

Associations of vascular and bone status in arthritis patients.

Cardiovascular (CV) disease and osteoporosis (OP) have been associated with rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Bone and vascular biomarkers and parameters along with the effect of 1-year anti-TNF therapy on these markers were assessed in order to determine correlations between vascular pathophysiology and bone metabolism in RA and AS. Thirty-six patients treated with etanercept or certolizumab pegol and 17 AS patients treated with ETN were included in a 12-month follow-up study. Bone and vascular markers were previously assessed by ELISA. Bone density was measured by DXA and quantitative CT (QCT). Flow-mediated vasodilation (FMD), common carotid intima-media thickness (IMT) and pulse-wave velocity (PWV) were assessed by ultrasound. Multiple correlation analyses indicated associations between bone and vascular markers. Osteoprotegerin, sclerostin and cathepsin K were significantly associated with FMD, IMT and PWV, respectively (p < 0.05). Moreover, total and trabecular BMD determined by QCT inversely correlated with IMT (p < 0.05). On the other hand, among vascular parameters, platelet-derived growth factor BB and IMT correlated with DXA femoral and QCT total BMD, respectively (p < 0.05). In the RM-ANOVA analysis, anti-TNF treatment together with baseline osteocalcin, procollagen 1 N-terminal propeptide (P1NP) or vitamin D3 levels determined one-year changes in IMT (p < 0.05). In the MANOVA analysis, baseline disease activity indices (DAS28, BASDAI), the one-year changes in these indices, as well as CRP exerted effects on multiple correlations between bone and vascular markers (p < 0.05). As the pattern of interactions between bone and vascular biomarkers differed between baseline and after 12 months, anti-TNF therapy influenced these associations. We found a great number of correlations in our RA and AS patients undergoing anti-TNF therapy. Some of the bone markers have been associated with vascular pathophysiology, while some vascular markers correlated with bone status. In arthritis, systemic inflammation and disease activity may drive both vascular and bone disease.

Nutritional vitamin D in CKD: Should we measure? Should we treat?

Vitamin Ddeficiency is frequently present in patients affected by chronic kidney disease (CKD). Experimental studies demonstrated that Vitamin D may play a role in the pathophysiology of diseases beyond mineral bone disorders in CKD (CKD-MBD). Unfortunately, the lack of large and interventional studies focused on the so called "non-classic" effects of 25(OH) Vitamin D supplementation in CKD patients, doesn't permit to conclude definitely about the beneficial effects of this supplementation in clinical practice. In conclusion, treatment of nutritional vitamin D deficiency in CKD may play a central role in both bone homeostasis and cardiovascular outcomes, but there is not clear evidence to support one formulation of nutritional vitamin D over another in CKD.

A rat model of SHPT with bone abnormalities in CKD induced by adenine and a high phosphorus diet.

The study of parathyroid hyperplasia with bone disease as a critical manifestation of chronic kidney disease-mineral and bone disorders (CKD-MBDs) is challenging due to the lack of a suitable research model. Here, we established a rat model with secondary hyperparathyroidism (SHPT) and bone disease induced by adenine and a high phosphorous diet and analyzed the skeletal characteristics. We performed blood analysis, emission computed tomography (ECT), dual energy X-ray absorptiometry (DEXA), micro-computed tomography (micro-CT), bone histomorphometry, and bone mechanical tests. The CKD rats with SHPT induced by adenine and a high phosphorus diet showed severe abnormalities in calcium and phosphorus metabolism and exhibited parathyroid hyperplasia. The bone mineral density (BMD) of femurs and lumbar vertebrae was significantly lower in the CKD rats than in the control (CTL) rats. The cortical and trabecular bone parameters of femurs showed significant bone loss. In addition, we found decreases in ultimate force, work to failure, stiffness, and elastic modulus in the CKD rats. In conclusion, our findings demonstrated that the CKD rats with SHPT induced by adenine and a high phosphorus diet may serve as a useful model for skeletal analysis in CKD with SHPT.

Bone Health and Endocrine Comorbidities in Pediatric Epilepsy.

Antiseizure medications and dietary therapies have associated effects on the endocrine system. We provided an overview of the relationship between epilepsy treatment and bone health in children with epilepsy. Additionally, we discussed the effects of epilepsy treatment on other endocrine systems including thyroid function, growth, reproduction, and weight. The effect of epilepsy on bone health is multifactorial; there are direct and indirect effects of medication and dietary treatments as well as a decrease in physical activity, decreased sunlight exposure, decreased vitamin D levels, and additional comorbidities. Some medications have a greater effect on vitamin D and bone health than others, however all antiseizure medical treatments are associated with lower vitamin D levels in pediatric patients. We have provided practical suggestions for vitamin D surveillance in children with epilepsy as well as replacement strategies. Children with epilepsy have an increased likelihood of additional endocrine disorders including subclinical hypothyroidism, decreased growth, weight abnormalities, reproductive and sexual dysfunction. To a great extent, this is medication specific. Though more studies are needed to elucidate optimal treatment and monitoring of bone health and other endocrinopathies in children with epilepsy, it is critical that caregivers pay close attention to these issues to provide optimal comprehensive care to their patients.

Recommended vitamin D levels in the general population. / Recomendaciones de vitamina D para la población general.

OBJECTIVE: To provide recommendations based on evidence on the management of vitaminD deficiency in the general population. PARTICIPANTS: Members of the Bone Metabolism Working Group of the Spanish Society of Endocrinology. METHODS: Recommendations were formulated using the GRADE system (Grading of Recommendations, Assessment, Development, and Evaluation) to describe both the strength of recommendations and the quality of evidence. A systematic search was made in MEDLINE (Pubmed) using the term VitaminD and the name of each issue. Papers in English and Spanish with publication date before 17 March 2016 were included. Recommendations were jointly discussed by the Working Group. CONCLUSIONS: This document summarizes the data about vitaminD deficiency in terms of prevalence, etiology, screening indications, adequate levels and effects of supplementation on bone and non-skeletal health outcomes.

Bone remodeling and regulating biomarkers in women at the time of breast cancer diagnosis.

PURPOSE: The majority of breast cancer patients receive endocrine therapy, including aromatase inhibitors known to cause increased bone resorption. Bone-related biomarkers at the time of breast cancer diagnosis may predict future risk of osteoporosis and fracture after endocrine therapy. METHODS: In a large population of 2,401 female breast cancer patients who later underwent endocrine therapy, we measured two bone remodeling biomarkers, TRAP5b and BAP, and two bone regulating biomarkers, RANKL and OPG, in serum samples collected at the time of breast cancer diagnosis. We analyzed these biomarkers and their ratios with patients' demographic, lifestyle, clinical tumor characteristics, as well as bone health history. RESULTS: The presence of bone metastases, prior bisphosphonate (BP) treatment, and blood collection after chemotherapy had a significant impact on biomarker levels. After excluding these cases and controlling for blood collection time, several factors, including age, race/ethnicity, body mass index, physical activity, alcohol consumption, smoking, and hormonal replacement therapy, were significantly associated with bone biomarkers, while vitamin D or calcium supplements and tumor characteristics were not. When prior BP users were included in, recent history of osteoporosis and fracture was also associated. CONCLUSIONS: Our findings support further investigation of these biomarkers with bone health outcomes after endocrine therapy initiation in women with breast cancer.

Eficacia de las intervenciones para el tratamiento de la dislexia: una revisión / Effectiveness of interventions for the treatment of dyslexia: a review

En este informe se revisa la investigación que respalda distintas intervenciones para el tratamiento de la dislexia, concretamente los trabajos de síntesis, en especial síntesis de las mejores evidencias, revisiones sistemáticas o metaanálisis publicados sobre cada tipo de intervención. En los casos en que no se ha publicado ningún trabajo de síntesis o estos trabajos son antiguos, se hace una revisión de la investigación primaria. Los trabajos localizados indican que los métodos fonológicos de intervención en la dislexia, es decir, aquellos en los que se combina el entrenamiento en habilidades fonológicas con el conocimiento de las letras y la práctica de la lectura, están ampliamente respaldados por la investigación. En cambio, la investigación sobre otros sistemas es sumamente escasa, ofrece resultados contradictorios o indica que se trata de sistemas ineficaces. Las intervenciones que están en estas situaciones son: la integración auditiva, el entrenamiento auditivo con soporte informático, la terapia visual, las lentes tintadas, el entrenamiento perceptivo-motor, las técnicas quiroprácticas, la integración sensorial, el método Davis, el neurofeedback, la musicoterapia y la educación musical o las dietas y suplementos alimenticios. A partir de esta revisión se realizan las siguientes recomendaciones: promocionar las intervenciones de tipo fonológico para el tratamiento de la dislexia, no utilizar o recomendar intervenciones que no estén respaldadas por la investigación científica, que los métodos de intervención que no hayan probado su eficacia no reciban el nombre de «terapia» o «tratamiento», y la creación y difusión de una guía sobre intervención en dislexia basada en evidencias científicas (AU)

In this report the research that supports various interventions for the treatment of dyslexia is revised, specifically the works of synthesis, especially synthesis of best evidence, systematic reviews or meta-analyses published about each type of intervention. A review of primary research is made in cases in which no synthesis work has been published or where these works are old. Localised works indicate that the phonological methods of intervention in dyslexia, i.e. those in which training in phonological skills is combined with knowledge of letters and the practice of reading, are widely supported by research. However, research on other methods is either extremely scarce or it offers conflicting results or it leads to the conclusion that they are inefficient methods. Interventions in this situation are: the auditory integration, the auditory training with computer support, visual therapy, the tinted lenses, motor-perceptual training, chiropractic techniques, sensory integration, the Davis method, neurofeedback, music therapy and music education or diets and dietary supplements. Promotion of phonological interventions is recommended; it is necessary to avoid recommendations of intervention methods for dyslexia which are not supported by scientific research; methods of intervention that have not proven their effectiveness may not be presented as therapies or treatments; and the creation and distribution of a guide on intervention in dyslexia based on scientific evidence is recommended (AU)

[Treatment of bone disease caused by gastrectomy].

Gastrectomy is undergone mainly in patients with gastric cancer. Bone diseases(osteoporosis and osteomalacia)caused by gastractomy are associated with weight loss, calcium and vitamin D inadequancy, and malnutrition. Most patients after gastrectomy have multile risk factors of bone diseases and subsequently are at a higher risk for fractures. In particular, sex hormone deficiency and aging enhance the risk for fractures. The management of bone diseases caused by gastraectomy include adequet intake of calcium, vitamin D and protein, sunlight exposure, and regular weight-bearing exercise, as well as non-smoking and avoiding excess alcohol drinking. The patients at a high risk for fractures shoud be treated with bisphosphonates.

[Protection and Mechanism of Qingyuan Shenghua Decoction on Multiple Organs of Sepsis Patients after Bone Trauma].

OBJECTIVE: To observe the protection of Qingyuan Shenghua Decoction (QSD) on multiple organs of sepsis patients after bone trauma, and to preliminarily explore its mechanism. METHODS: Totally 60 sepsis patients after bone trauma were randomly assigned to the treatment group and the control group according to random digit table, 30 in each group. All patients received routine Western medical treatment. Patients in the treatment group additionally took QSD or were nasally fed with QSD, one dose per day for 1 week. Changes of WBC, oxygenation index (PaO2/FiO2), serum creatinine (SCr), total bilirubin (TBIL), aspartate aminotransferase (AST), fibrinogen (FIB), D-dimer (DD), activated partial thromboplastin time (APTT), pro-calcitonin (PCT), C-reactive protein (CRP), heart rate (HR), mean arterial pressure (MAP), intra-abdominal pressure, scores for Acute Physiology and Chronic Health Evaluation II (APACHE II), sequential organ failure assessment (SOFA) scores were observed before treatment and on day 1, 3 and 7 after treatment. RESULTS: Compared with the control group at the same time point, MAP increased at post-treatment day 1 and 3; CRP, APTT, HR, SCr, TBIL, AST, intra-abdominal pressure at post-treatment day 3 obviously decreased in the treatment group (P < 0.05, P < 0.01). WBC, SOFA scores, PCT, CRP, APACHE II, APTT, D-D, HR, SCr, TBIL, AST and intra-abdominal pressure significantly decreased; FIB, MAP and PaO2/FiO2 obviously increased at post-treatment day 7 (P < 0.05, P < 0.01). CONCLUSION: QSD had good protective effect on multiple organ function in sepsis patients after bone trauma, and its mechanism might be related with effectively clearing endotoxin, alleviating inflammatory reactions, and fighting against coagulation dysfunction.

Osteopathology and selenium deficiency co-occurring in a population of endangered Patagonian huemul (Hippocamelus bisulcus).

BACKGROUND: About 1,000 endangered Patagonian huemul deer (Hippocamelus bisulcus) remain in Chile and 350-500 in Argentina. Most groups (>100) are not recovering, and prevalence of osteopathology in Argentina was at least 57%. Here I describe relevant cases of osteopathology from a Chilean population which, however, recently also provided data on trace mineral status, supporting the initial hypothesis that nutrition may be a primary etiologic factor. Additionally, recent data on bone chemical composition of Argentine cases and soil analyses are discussed. RESULTS: Fluoride levels in Argentine cases with osteopathology were low and fluorosis was discarded as an etiological factor. Selenium deficiency occurred in 73% of huemul from the Chilean population which exhibited several cases with osteopathology. The pathophysiognomy included extensive erosion; tooth loss; porosification; perforations of palate, maxillar and mandibular bone with frequent exposure of tooth roots; and fractured mandibula. Areas currently used by remaining huemul have mainly acidic volcanic soils, which reduces selenium bioavailability: mean soil selenium levels from areas typically used by extant huemul were very deficient (0.19 ppm), corroborating documented overt selenium deficiency in local livestock and plants. The area of extant huemul is known to result in primary iodine deficiency in livestock which is aggravated by selenium deficiency. CONCLUSIONS: Currently the most parsimonious explanation for frequent osteopathology and lack of numerical recovery are the combined effects of selenium and iodine deficiencies based on: osteopathology in a population of selenium deficient huemul; selenium deficient livestock, plants and soils; acidic soils; and regional primary iodine deficiency. The nexus between mineral nutrition and population dynamics of huemul may be due to constraints on their movements to fertile lowlands, including the elimination of historic migratory traditions, and concomitant elimination of source populations.

Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience.

CONTEXT: Zoledronic acid (ZA) is increasingly used in young patients with bone disorders. However, data related to the safety of ZA administration in this population are limited. OBJECTIVE: The study aimed to characterize the short-term safety profile of ZA and identify risk factors for ZA-related adverse events (AEs) in young patients. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective chart review of inpatients and outpatients less than 21 years old who received at least one ZA infusion between July 2010 and January 2014 at The Children's Hospital of Philadelphia. RESULTS: Eighty-one patients (56% male; median age, 12 y; age at first infusion, 0.5 to 20 y) with diverse skeletal disorders received a total of 204 infusions. The most common indications were osteoporosis (33% of cohort) and osteogenesis imperfecta (27.2%). The median ZA dose was 0.025 mg/kg (interquartile range, 0.025-0.05); the median dosing interval was 6 months (range, 1 to 25.6 mo). AEs were mild and more common after the first ZA infusion in patients with no previous bisphosphonate exposure: hypophosphatemia (25.2% of infusions), acute phase reactions (19.1%), and hypocalcemia (16.4%). Symptomatic hypocalcemia requiring iv calcium occurred after two infusions. ZA dose was significantly associated with hypophosphatemia, but not other AEs. Hypocalcemia was more common in patients with high bone turnover as assessed by preinfusion alkaline phosphatase levels. AEs were not associated with diagnosis, baseline serum calcium, or calcium/calcitriol supplementation. CONCLUSION: Acute AEs related to ZA infusion in youths are common, occur principally after the first ZA infusion in bisphosphonate-naive patients, and are typically mild and easily managed. Future prospective studies are needed to determine the potential long-term risks, as well as benefits, of ZA therapy in the pediatric population.

Movilidad lumbopélvica en pacientes estreñidos tras la maniobra hemodinámica abdominal modificada / No disponible

Introducción: El estreñimiento funcional es la patología más frecuente en Gastroenterología. Recientes estudios aseveran una presencia del 78% de dolores referidos al aparato locomotor de origen visceral. Objetivos: Evaluar la Maniobra Hemodinámica abdominal modificada (MHAM) en pacientes estreñidos a través del Umbral de dolor a la presión (UDP) en los niveles dorsales T10,T11 y T12, inclinometría para la flexión lumbar, el test de extensibilidad Sit and Reach y la valoración postural del paciente con el programa SAPO. Material y Métodos: Ensayo clínico aleatorizado controlado, a doble ciego en 20 pacientes (n=20); Grupo Control (GC: n=10) y Grupo Experimental (GE: n=10). Resultados: Algometría T11: en el GE la diferencia media fue de 1,05 kg (IC95%=0,501 a 1,603; p=0,001; d Cohen= 0,84). Algometría T12: en el GE la diferencia fue 1,23 kg (IC95%=0,499 a 1,969; p=0,002 significativa; d Cohen=0,89). Inclinometría T12: en el GE se produjo un incremento medio de 10,4º (IC 95%=7,59 a 13,21º; p<0,001; d Cohen=0,94).Test Sit and Reach: en el GE el aumento medio fue de 3,47cm (IC95%= 2,35 a 4,58 cm; p<0,001; d Cohen=0,77). Conclusiones: La aplicación de la Maniobra Hemodinámica Abdominal Modificada en pacientes con estreñimiento funcional genera cambios inmediatos aumentando la tolerancia al dolor en las vértebras T11 y T12, aumentando la flexión lumbar y mejorando la extensibilidad de los miembros inferiores (AU)

No dispoible

Vitamin D Deficiency in HIV Infection: Not Only a Bone Disorder.

Hypovitaminosis D is a worldwide disorder, with a high prevalence in the general population of both Western and developing countries. In HIV patients, several studies have linked vitamin D status with bone disease, neurocognitive impairment, depression, cardiovascular disease, high blood pressure, metabolic syndrome, type 2 diabetes mellitus, infections, autoimmune diseases like type 1 diabetes mellitus, and cancer. In this review, we focus on the most recent epidemiological and experimental data dealing with the relationship between vitamin D deficiency and HIV infection. We analysed the extent of the problem, pathogenic mechanisms, clinical implications, and potential benefits of vitamin D supplementation in HIV-infected subjects.

Beta-thalassaemia intermedia: evaluation of endocrine and bone complications.

OBJECTIVE: Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in ß-TI adult patients. METHODS: We studied retrospectively 70 ß-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from T2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry. RESULTS: Thirty-seven (53%) males and 33 (47%) females were studied, with mean age 41 ± 12 years, mean haemoglobin 9.2 ± 1.5 g/dL, median ferritin 537 (range 14-4893), and mean LIC 7.6 ± 6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%). DISCUSSION AND CONCLUSIONS: Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.

Bone disease in patients awaiting liver transplantation. Has the situation improved in the last two decades?

In recent years, there has been speculation about the possibility of a reduction in the incidence of fractures after liver transplantation (LT) because of changes in the characteristics of candidates and the use of different immunosuppressive therapies. We analyzed the characteristics of LT candidates (CTC) and compared them with historical data from a group of LT candidate patients (HTC). Data from 60 CTC patients consecutively included in a screening program of metabolic bone disease were compared with data from 60 HTC patients prospectively evaluated between 1992 and 1993. In all patients, we analyzed the clinical and laboratory characteristics, bone mineral density (BMD) dual-energy X-ray absorptiometry, and skeletal fractures. Patients in the CTC group were older than patients in the HTC group. The CTC group had lower femoral neck T scores. No differences were observed between groups in the proportion of patients with osteoporosis (22 vs. 30 %, p = ns) or fractures (36 vs. 33 %, p = ns). The percentage of patients with normal BMD decreased from 38 to 20 %. 25(OH)D values were low in both groups. Only 7.5 % of the CTC patients received calcium and/or vitamin D supplementation. The prevalence of fractures among CTC patients was similar to that seen two decades ago. At present, candidates for LT are older and have lower femoral bone mass. Vitamin D deficiency remains frequent; however, calcium and/or vitamin D supplementation is uncommon.

Calcium fructoborate helps control inflammation associated with diminished bone health.

Inflammation has been identified as a possible contributory factor to disruption of the normal bone remodeling process, a process essential to healthy bone mineral density. Several large population-based clinical studies have specifically shown that levels of C-reactive protein, an immune recognition protein that is a sensitive marker of inflammation, are inversely and independently associated with total bone mineral density. The evidence suggests that control of C-reactive protein levels may contribute to bone health by protecting against inflammation's disruption of the equilibrium between bone resorption and bone deposition. Calcium fructoborate, a patented complex of calcium, fructose, and boron found naturally in fresh and dried fruits, vegetables and herbs, and wine, is a sugar-borate ester. A growing body of peer-reviewed, published clinical research indicates that the calcium fructoborate significantly reduces serum levels of the C-reactive protein in humans, suggesting that this unique plant-mineral complex may contribute to bone health by controlling the inflammation associated with loss of bone mineral density.

Phosphate binders in moderate chronic kidney disease: where do we stand?

Phosphate levels are strikingly associated with poor outcomes in chronic kidney disease (CKD) and end-stage renal disease (ESRD) patients. Numerous epidemiological studies have repeatedly documented a worrisome link between serum phosphorus and adverse outcome in CKD stages 3 and 4. Notably, some but not all series suggest that the risk is significantly increased even for serum levels within the reference range of normality for serum phosphorus. The use of phosphate binders as a tool for controlling hyperphosphatemia has also been associated in observational studies with a better survival both in CKD and ESRD. However, no randomized clinical trial (RCT) has ever tested the impact of phosphate-lowering interventions (i.e., phosphate binder or nutritional intervention) on hard outcomes. Furthermore, a recent RCT seems to caution against the indiscriminate use of phosphate binders in CKD patients not receiving maintenance dialysis. Considering the clinical sequelae associated with phosphate overload in CKD, phosphate-lowering therapy is perceived as crucial and safe to prevent chronic kidney disease-mineral bone disorder (CKD-MBD). However, when to start in the course of CKD, how to monitor and whether to choose a calcium-based or a calcium-free phosphate binder are still subject to debate. Further research is deemed necessary to elucidate whether early treatment with phosphate binders is safe and may attenuate the CKD-MBD progression through phosphate load reduction.

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.

OBJECTIVE: We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status. METHODS: We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT. RESULTS: Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with MECP2 mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort. CONCLUSIONS: Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.