ABSTRACT
We describe two cases of acquired parathyroid hormone (PTH) resistance consequent to the development of serum PTH type 1 receptor (PTH1R) autoantibodies, which block PTH binding and signaling. Both cases were associated with other autoimmune manifestations, and one case was associated with atypical membranous glomerulonephritis. In vitro binding and signaling assays identified the presence of PTH1R-blocking IgG autoantibodies, which were not present in serum samples from patients with other renal or autoimmune disorders. (Funded by the Intramural Research Programs of the National Institute of Diabetes and Digestive and Kidney Diseases and others.).
Subject(s)
Autoantibodies/blood , Hypocalcemia/etiology , Parathyroid Hormone/metabolism , Receptor, Parathyroid Hormone, Type 1/immunology , Adult , Aged , DNA Mutational Analysis , Female , Glycopeptides/blood , Humans , Hypocalcemia/genetics , Immunoglobulin G/blood , Immunophenotyping , Kidney Glomerulus/pathology , Microscopy, Electron , Mutation , Pseudohypoparathyroidism/geneticsABSTRACT
We report single-shot, time-resolved observation of self-steepening and temporal splitting of near-infrared, 50 fs, micro-joule pulses propagating nonlinearly in flint (SF11) glass. A coherent, smooth-profiled, 60-nm-bandwidth probe pulse that propagated obliquely to the main pulse through the Kerr medium recorded a time sequence of longitudinal projections of the main pulse's induced refractive index profile in the form of a phase-shift "streak," in which frequency-domain interferometry recovered with â¼10 fs temporal resolution. A three-dimensional simulation based on a unidirectional pulse propagation equation reproduced observed pulse profiles.
ABSTRACT
Current international consensus of the appropriate Beighton score cut-off to define if a child has generalised joint hypermobile or not is based upon expert opinion. Our aim was to determine the prevalence of Beighton scores of children worldwide to provide a recommendation for establishing the Beighton score cut-off to identify generalised joint hypermobility in children. We used AMED, OVID Medline, Embase and CINAHL to find published articles from inception to April 2024 describing Beighton scores of children up to and including 18 years from the general population. We extracted study demographics including country of publication, total number of participants, summary data about the age and sex of participant, Beighton scores and any cut-off used where authors deemed children hypermobile and how many children were rated at the corresponding Beighton scores. There were 37 articles reporting on the prevalence or incidence of hypermobility at cut-off scores from 28,868 participants. Using the cut-off of ≥ 6 resulted in a prevalence of 6% for studies reporting male data and 13% for studies reporting female data. Limited data reporting availability precluded further sub-analysis at a Beighton score of ≥ 7, age, pubertal status and ethnicity. Conclusion: The working threshold for identifying generalised joint hypermobility in children should be a Beighton score of 6 or more. Our analysis also suggests a Beighton score of 7 or greater may be appropriate in childhood, particularly for females. What is Known: ⢠The working threshold for identifying generalised joint hypermobility in children previously was set based on expert opinion. What is New: ⢠The threshold to identify hypermobility in children should be at a minimum of ≥ 6 on the Beighton score.
Subject(s)
Joint Instability , Humans , Joint Instability/diagnosis , Joint Instability/epidemiology , Child , Adolescent , Female , Male , Prevalence , Child, PreschoolABSTRACT
OBJECTIVE: This article assesses the nutritional status of Indigenous women from 14 to 49 years of age in Brazil. DESIGN: Sample size was calculated for each region considering a prevalence of 50 % for all disease outcomes, a relative error of 5 % and a CI of 95 %. In the initial data analysis, the prevalence of excess weight and obesity was calculated according to independent variables. Multivariate multilevel hierarchical analyses were conducted based on a theoretical model of two ranked blocks. SETTING: The 2010 Indigenous population in Brazil was 896 000, with approximately 300 Indigenous ethnic groups, making Brazil one of the most ethnically diverse countries in the Americas and the world. PARTICIPANTS: Of the total target sample of 6722 women evaluated by the National Survey, thirty did not participate, 939 were not eligible for analyses due to pregnancy or unknown pregnancy status, and thirty-nine were excluded due to missing anthropometric data. RESULTS: The evaluation of nutritional status was completed for 5714 non-pregnant women (99·3 % of eligible participants for this outcome). High prevalence rates were encountered for both excess weight (46·2 %) and obesity (15·8 %) among the sampled women. In the multivariate analyses, higher socioeconomic indicators, market-integrated living conditions and less reliance on local food production, as well as increased age and parity were associated with excess weight and obesity. CONCLUSION: Results point to distinct patterns of associations between socioeconomic indicators and the occurrence of excess weight and obesity among Indigenous women, which have potentially significant implications from a public policy perspective for Indigenous peoples in Brazil.
Subject(s)
Nutritional Status , Obesity , Brazil/epidemiology , Female , Humans , Indigenous Peoples , Obesity/epidemiology , Pregnancy , Prevalence , Socioeconomic FactorsABSTRACT
The objective of the present study was to characterize the food profiles in Indigenous households participating in the First National Survey of Indigenous People's Health and Nutrition in Brazil. Multiple correspondence analysis was used to estimate distances between regions and foods from three sources (local Indigenous production, purchased, and external donation), in addition to "not consumed." The combined distribution of the first two dimensions revealed three distinct profiles of food acquisition. Observed proximities between geopolitical regions and distinct modes of food acquisition speak to regional contrasts in food sovereignty among the Indigenous population that are closely linked to historical occupation and economic expansion in the country. Considering the concept of food sovereignty as involving rights to dietary autonomy, healthy diets, and resource management, our data suggest Brazil's North region is the closest of the four regions analyzed to these goals. Food sovereignty in the Northeast and South/Southeast regions is reduced due to greater monetarization and proximity to market economy resources. The advance of agribusiness in the Amazon has been a hallmark of the Brazilian government's current environmental policy, directly threatening the survival of Indigenous peoples living in that region.
Subject(s)
Diet , Food Supply , Indigenous Peoples , Nutritional Status , Adolescent , Adult , Brazil , Child, Preschool , Family Characteristics , Female , Food , Health Surveys , Humans , Infant , Male , Middle Aged , Young AdultABSTRACT
Most primary thyroid tumours are of epithelial origin. Primary thyroid mesenchymal tumours are rare but are being increasingly detected. A vast majority of thyroid mesenchymal tumours occur between the fourth and seventh decades of life, presenting as progressively enlarging thyroid nodules that often yield non-diagnostic results or spindle cells on fine needle aspiration biopsy. Surgery is the preferred mode of treatment, with adjuvant chemoradiotherapy used for malignant thyroid mesenchymal tumours. Benign thyroid mesenchymal tumours have excellent prognosis, whereas the outcome of malignant thyroid mesenchymal tumours is variable. Each thyroid mesenchymal tumour is characterised by its unique histopathology and immunohistochemistry. Because of the rarity and aggressive nature of malignant thyroid mesenchymal tumours, a multidisciplinary team-based approach should ideally be used in the management of these tumours. Comprehensive guidelines on the management of thyroid mesenchymal tumours are currently lacking. In this Review, we provide a detailed description of thyroid mesenchymal tumours, their clinical characteristics and tumour behaviour, and provide recommendations for the optimal management of these tumours.
Subject(s)
Biomarkers, Tumor , Neoplasms, Connective and Soft Tissue , Thyroid Neoplasms , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Clinical Decision-Making , Humans , Neoplasms, Connective and Soft Tissue/chemistry , Neoplasms, Connective and Soft Tissue/genetics , Neoplasms, Connective and Soft Tissue/pathology , Neoplasms, Connective and Soft Tissue/therapy , Predictive Value of Tests , Prognosis , Thyroid Neoplasms/chemistry , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology , Thyroid Neoplasms/therapyABSTRACT
OBJECTIVE: The Xavante Longitudinal Health Study was developed to permit granular tracking of contemporary health challenges faced by indigenous communities in Brazil, taking into consideration ongoing historical processes that may be associated with increases in child undernutrition, adult obesity, and cardiovascular disease risks. METHODS: This was an open-cohort study with six semiannual data collection waves from 2009 to 2012. The study was undertaken in two Xavante villages, Pimentel Barbosa and Etênhiritipá, State of Mato Grosso, Central Brazil. No sampling technique was used. Data collection placed emphasis on growth and nutrition of children under five and nutrition status, blood pressure, and blood glucose levels of adolescents and adults. RESULTS: Baseline data collection began in July/August 2009 with a population census (656 individuals). Between the first and final waves, the study population increased by 17%. At baseline, stunting and wasting was elevated for most age groups <10 years. Overweight, obesity, and increased risk of metabolic complications were expressive among individuals >17 years, disproportionately affecting females. Anemia was elevated in most age groups, especially among females. Mean systolic and diastolic blood pressure was moderate. The overall prevalence of high blood pressure was relatively low. CONCLUSIONS: Our findings reveal marked health disparities relative to the Brazilian national population and a complex dietary health epidemiology involving the double burden of malnutrition, rapidly changing nutritional indicators, and elevated metabolic disease risk. The topically broad multidisciplinary focus permitted construction of the richest longitudinal data set of socio-epidemiological information for an indigenous population in Brazil.
Subject(s)
Blood Glucose/analysis , Blood Pressure , Growth , Indians, South American/statistics & numerical data , Nutritional Status , Adolescent , Adult , Aged , Aged, 80 and over , Brazil , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Longitudinal Studies , Male , Middle Aged , Young AdultABSTRACT
The True Colours remote mood monitoring system was developed over a decade ago by researchers, psychiatrists, and software engineers at the University of Oxford to allow patients to report on a range of symptoms via text messages, Web interfaces, or mobile phone apps. The system has evolved to encompass a wide range of measures, including psychiatric symptoms, quality of life, and medication. Patients are prompted to provide data according to an agreed personal schedule: weekly, daily, or at specific times during the day. The system has been applied across a number of different populations, for the reporting of mood, anxiety, substance use, eating and personality disorders, psychosis, self-harm, and inflammatory bowel disease, and it has shown good compliance. Over the past decade, there have been over 36,000 registered True Colours patients and participants in the United Kingdom, with more than 20 deployments of the system supporting clinical service and research delivery. The system has been adopted for routine clinical care in mental health services, supporting more than 3000 adult patients in secondary care, and 27,263 adolescent patients are currently registered within Oxfordshire and Buckinghamshire. The system has also proven to be an invaluable scientific resource as a platform for research into mood instability and as an electronic outcome measure in randomized controlled trials. This paper aimed to report on the existing applications of the system, setting out lessons learned, and to discuss the implications for tailored symptom monitoring, as well as the barriers to implementation at a larger scale.
Subject(s)
Affect/physiology , Mobile Applications/standards , Quality of Life/psychology , Humans , InternetABSTRACT
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP. Selected rare variants were assessed for co-segregation in affected family members and screened for in an additional 32 kindreds with FIHP. In eight kindreds with FIHP, we identified three rare missense variants in GCM2, a gene encoding a transcription factor required for parathyroid development. Functional characterization of the GCM2 variants and deletion analyses revealed a small C-terminal conserved inhibitory domain (CCID) in GCM2. Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP. These two rare variants acted as gain-of-function mutations that increased the transcriptional activity of GCM2, suggesting that GCM2 is a parathyroid proto-oncogene. Our results demonstrate that germline-activating mutations affecting the CCID of GCM2 can cause FIHP.
Subject(s)
Adenoma/genetics , Fibroma/genetics , Germ-Line Mutation , Hyperparathyroidism, Primary/genetics , Hyperparathyroidism/genetics , Jaw Neoplasms/genetics , Multiple Endocrine Neoplasia Type 1/genetics , Nuclear Proteins/genetics , Transcription Factors/genetics , Adenoma/diagnosis , Adolescent , Adult , Aged , Amino Acid Sequence , Exome , Female , Fibroma/diagnosis , Genetic Variation , Humans , Hyperparathyroidism/diagnosis , Hyperparathyroidism, Primary/diagnosis , Jaw Neoplasms/diagnosis , Male , Middle Aged , Multiple Endocrine Neoplasia Type 1/diagnosis , Parathyroid Hormone , Pedigree , Proto-Oncogene Mas , Proto-Oncogenes/genetics , Sequence Analysis, DNA , Young AdultABSTRACT
We investigate the nonlinear propagation of intense, two-cycle, carrier-envelope phase (CEP) stable laser pulses at 1.7 µm center wavelength in air. We observe CEP-dependent spectral interference in the visible part of the forward-propagating white light generated on propagation. The effect is robust against large fluctuations of the input pulse energy. This robustness is enabled by rigid clamping of both the peak optical field and the phase of the propagating waveform, which has been revealed by numerical simulations. The CEP locking can enhance the yield of the CEP-dependent strong-field processes in gaseous media with long-wavelength drivers, while the observed spectral interference enables single-shot, stand-off CEP metrology in the atmosphere.
ABSTRACT
BACKGROUND: Persistent/recurrent primary hyperparathyroidism (pHPT) occurs frequently in multiple endocrine neoplasia type 1 (MEN1). We assessed the usefulness of intraoperative PTH (IOPTH) and preoperative localizing studies based on the outcome of patients with MEN1-associated pHPT undergoing reoperative surgery. METHODS: A retrospective analysis identified MEN1 patients with persistent/recurrent pHPT. Patient outcome was defined as postoperative serum calcium and PTH levels (cured, persistent or recurrent) at last follow-up. Positive predictive value (PPV) was calculated for imaging studies and IOPTH. RESULTS: Thirty patients with MEN1-associated recurrent/persistent pHPT underwent 69 reoperative parathyroidectomies. Median follow-up time was 33 months. Persistent pHPT occurred in four (13 %) patients. IOPTH had a 92 % PPV for postoperative eucalcemia. Ultrasound and Tc99m-sestamibi had sensitivities of 100 and 85 % for localizing an enlarged parathyroid gland. However, five (17 %) patients had additional enlarged glands, not visualized preoperatively that were removed after IOPTH did not drop appropriately. Bone mineral density scores did not improve after reoperation (p = 0.60), but the rate of postoperative nephrocalcinosis did (p = 0.046). Patients with pancreatic neuroendocrine tumors had significantly higher rates of persistent/recurrent pHPT compared with those without (40 vs. 0 %, p = 0.021). Intraoperative and delayed parathyroid autotransplantation was performed in nine (30 %) and four (14 %) patients, respectively. CONCLUSIONS: Although preoperative localizing studies are helpful for guiding reoperative strategy in MEN1 with persistent/recurrent pHPT, additional enlarged glands may be missed by conventional imaging. IOPTH should therefore be employed routinely in this setting. Routine cryopreservation should be considered in all patients. Pancreatic manifestation may be associated with earlier recurrence or persistent disease.
Subject(s)
Hyperparathyroidism, Primary/surgery , Multiple Endocrine Neoplasia Type 1/surgery , Neuroendocrine Tumors/complications , Pancreatic Neoplasms/complications , Parathyroid Hormone/blood , Reoperation , Adolescent , Adult , Aged , Bone Density , Calcium/blood , Disease-Free Survival , Female , Humans , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/etiology , Intraoperative Period , Magnetic Resonance Imaging , Male , Middle Aged , Multiple Endocrine Neoplasia Type 1/complications , Multiple Endocrine Neoplasia Type 1/diagnostic imaging , Multiple Endocrine Neoplasia Type 1/genetics , Parathyroid Glands/diagnostic imaging , Parathyroid Glands/transplantation , Parathyroidectomy , Postoperative Period , Predictive Value of Tests , Radionuclide Imaging , Recurrence , Retrospective Studies , Technetium Tc 99m Sestamibi , Tomography, X-Ray Computed , Transplantation, Autologous , Ultrasonography , Young AdultABSTRACT
BACKGROUND: Anemia is recognized as a major public health problem that disproportionately affects vulnerable populations. Indigenous women of reproductive age in Brazil are thought to be at high risk, but lack of nationwide data limits knowledge about the burden of disease and its main determinants. This study aimed to assess the prevalence of anemia and associated factors in this population using data from The First National Survey of Indigenous People's Health and Nutrition in Brazil. METHODS: Data were collected from Indigenous women between 15 and 49 years old based on a nationwide sample of villages. The outcomes of interest were hemoglobin levels (g/dL) and anemia (< 12 g/dL for nonpregnant and < 11 g/dL for pregnant women). Multilevel models were used to explore associations with contextual (village) and individual (household/woman) level variables. RESULTS: Based on data for 6692 Indigenous women, the nationwide mean hemoglobin level was 12.39 g/dL (95% CI: 12.29-12.50). Anemia prevalence was high (33.0%; 95% CI: 30.40-35.61%) and showed pronounced regional disparities. No village-level characteristics were associated with anemia or hemoglobin levels in the multilevel model. Even after controlling for upper level variables, socioeconomic status, parity, body mass index, and having been treated for malaria were associated with anemia and hemoglobin levels. CONCLUSION: The prevalence of anemia in Brazilian Indigenous women was 12% greater than the national estimates for women of reproductive age. Anemia prevalence and mean hemoglobin levels among Indigenous women appear to be partly explained by some previously recognized risk factors, such as socioeconomic status, body mass index, and malaria; however, part of the variability in these outcomes remains unexplained. Knowledge of health status and its potential determinants is essential to guide public policies aimed at controlling anemia burden in Indigenous communities.
Subject(s)
Anemia/ethnology , Health Status Indicators , Population Groups/statistics & numerical data , Prevalence , Adolescent , Adult , Body Mass Index , Brazil/ethnology , Female , Health Surveys , Hemoglobins/analysis , Humans , Malaria/complications , Middle Aged , Population Groups/ethnology , Social ClassABSTRACT
BACKGROUND: The nutritional profile of Indigenous children in Brazil is comparable to those observed in some of the least developed regions of the world. AIM: Weight and height growth curves were characterised based on longitudinal data from a local Indigenous population experiencing the double burden of child under-nutrition and adult obesity. SUBJECTS AND METHODS: Anthropometric data were collected in six waves from 2009-2011 for children <10 in two proximate Xavante villages in Central Brazil. Prevalence rates for stunting, wasting and thinness were calculated using WHO references. Weight and height data were adjusted for generalised additive mixed models to generate growth curves. RESULTS: Prevalence rates of stunting and wasting were high, but cases of thinness and excess weight were negligible. Weight and height began close to WHO medians, but fell substantially before 12 months. Boys but not girls were able to catch-up in weight before age 10. From 3-10 years, height for both sexes remained between -2 and 0 z-scores. CONCLUSION: Impaired Xavante growth before 1 year followed by inconsistent recovery before 10 years reflects health and wellbeing disparities with regard to the Brazilian national population and a complex epidemiology of growth involving rapid nutritional change.
Subject(s)
Child Development/physiology , Ethnicity/statistics & numerical data , Population Groups/statistics & numerical data , Body Height , Body Mass Index , Body Weight , Brazil/epidemiology , Child , Child, Preschool , Confidence Intervals , Female , Humans , Infant , Longitudinal Studies , MaleABSTRACT
Continual vital sign assessment on the general care, medical-surgical floor is expected to provide early indication of patient deterioration and increase the effectiveness of rapid response teams. However, there is concern that continual, multi-parameter vital sign monitoring will produce alarm fatigue. The objective of this study was the development of a methodology to help care teams optimize alarm settings. An on-body wireless monitoring system was used to continually assess heart rate, respiratory rate, SpO2 and noninvasive blood pressure in the general ward of ten hospitals between April 1, 2014 and January 19, 2015. These data, 94,575 h for 3430 patients are contained in a large database, accessible with cloud computing tools. Simulation scenarios assessed the total alarm rate as a function of threshold and annunciation delay (s). The total alarm rate of ten alarms/patient/day predicted from the cloud-hosted database was the same as the total alarm rate for a 10 day evaluation (1550 h for 36 patients) in an independent hospital. Plots of vital sign distributions in the cloud-hosted database were similar to other large databases published by different authors. The cloud-hosted database can be used to run simulations for various alarm thresholds and annunciation delays to predict the total alarm burden experienced by nursing staff. This methodology might, in the future, be used to help reduce alarm fatigue without sacrificing the ability to continually monitor all vital signs.
Subject(s)
Clinical Alarms , Databases, Factual , Monitoring, Physiologic/methods , Vital Signs , Blood Pressure , Blood Pressure Determination/methods , Cloud Computing , Computer Simulation , Equipment Failure , Heart Rate , Hospitals , Humans , Medical Informatics , Respiratory Rate , Wireless TechnologyABSTRACT
BACKGROUND: Globally, diarrhea is the second leading cause of death among children under five. In Brazil, mortality due to diarrhea underwent a significant reduction in recent decades principally due to expansion of the primary healthcare network, use of oral rehydration therapy, reduced child undernutrition, and improved access to safe drinking water. The First National Survey of Indigenous People's Health and Nutrition in Brazil, conducted in 2008-2009, was the first survey based on a nationwide representative sample to study the prevalence of diarrhea and associated factors among Indigenous children in the country. METHODS: The survey assessed the health and nutritional status of Indigenous children < 5 years of age based on a representative sample of major Brazilian geopolitical regions. A stratified probabilistic sampling was carried out for Indigenous villages. Within villages, children < 5 years of age in sampled households were included in the study. Interviews were based on a seven day recall period. Prevalence rates of acute diarrhea were calculated for independent variables and hierarchical multivariable analyses were conducted to assess associations. RESULTS: Information on diarrhea was obtained for 5,828 children (95.1% of the total sample). The overall prevalence of diarrhea was 23.5%. Regional differences were observed, with the highest rate being in the North (38.1%). Higher risk of diarrhea was observed among younger children and those who had less maternal schooling, lower household socioeconomic status, undernutrition (weight-for-age deficit), presence of another child with diarrhea in the household, and occurrence of upper respiratory infection. CONCLUSIONS: According to results of the First National Survey of Indigenous People's Health and Nutrition, almost a quarter of Indigenous children throughout the country had diarrhea during the previous week. This prevalence is substantially higher than that documented in 2006 for Brazilian children < 5 years generally (9.4%). Due to its exceedingly multicausal nature, the set of associated variables that remained associated with child diarrhea in the final multivariable model provide an excellent reflection of the diverse social and health inequities faced by Indigenous peoples in contemporary Brazil.
Subject(s)
Diarrhea/epidemiology , Health Status Disparities , Body Weight , Brazil/epidemiology , Child Nutrition Disorders/epidemiology , Child, Preschool , Female , Fluid Therapy , Health Surveys , Humans , Infant , Male , Nutrition Surveys , Population Groups , Prevalence , Respiratory Tract Infections , Social Determinants of HealthABSTRACT
OBJECTIVE: To analyze the temporal trend of completeness and consistency of data on notifications of violence against indigenous women in the health macro-region of Dourados, state of Mato Grosso do Sul, Brazil, between 2009 and 2020. METHODS: An ecological time series study was conducted using data from the Notifiable Health Conditions Information System; Prais-Winsten regression was used to analyze the trend of data completeness and consistency, as well as the proportion of completed and coherent fields. RESULTS: A total of 2,630 cases were reported; completeness was found to be very poor in the variable "occupation" (48.9%) and poor in the variables "schooling" (68.3%) and "time of occurrence" (67.9%); in the analysis of temporal trends, only the variable "occupation" showed a decreasing trend (p = 0.045). CONCLUSION: The data analyzed demonstrated the need for improvement in the completeness of the variables "schooling", "occupation" and "time of occurrence" of the violent act. MAIN RESULTS: There was a progressive increase in notifications over the years. Most of the variables showed regular or excellent completeness and consistency. In the analysis of temporal trend, only the "occupation" variable showed a decreasing trend. IMPLICATIONS FOR SERVICES: Care for victims of violence is part of the daily routine of health services, and it is essential for health professionals to provide adequate compulsory notification for a comprehensive understanding of the victims' profile, thus assisting in addressing this issue. PERSPECTIVES: Further studies are needed to understand the factors associated with violence against indigenous women, which could help the development of health promotion actions and violence prevention strategies targeting these women.
Subject(s)
Violence , Humans , Brazil , Female , Violence/statistics & numerical data , Time Factors , Indians, South American/statistics & numerical data , Gender-Based Violence/statistics & numerical data , Indigenous Peoples/statistics & numerical data , Educational Status , Adult , Information SystemsABSTRACT
A 51-year-old woman with a history of primary hyperparathyroidism (PHPT) with prior parathyroidectomy, osteoporosis, and learning disability was referred for hypercalcemia discovered after a fall. Family history was negative for PHPT, pituitary, enteropancreatic neuroendocrine, or jaw tumors. Dysmorphic facies, multiple cutaneous melanocytic nevi, café au lait macules, long fingers, and scoliosis were observed. Laboratory evaluation showed an elevated parathyroid hormone (PTH) level, hypercalcemia, and hypophosphatemia, all consistent with PHPT. Preoperative imaging revealed a right inferior candidate parathyroid lesion. The patient underwent right inferior parathyroidectomy with normalization of PTH, calcium, and phosphorus. Genetic testing showed a likely pathogenic de novo heterozygous germline missense variant p.R764W in the ZFX gene that encodes a zinc-finger transcription factor previously shown to harbor somatic missense variants in a subset of sporadic parathyroid tumors. Germline variants in ZFX have been reported in patients with an X-linked intellectual disability syndrome with an increased risk for congenital anomalies and PHPT. Further research may determine if genetic testing for ZFX could be of potential benefit for patients with PHPT and developmental anomalies, even in the absence of a family history of parathyroid disease.
ABSTRACT
INTRODUCTION: The prevalence of undernutrition, which is closely associated with socioeconomic and sanitation conditions, is often higher among indigenous than non-indigenous children in many countries. In Brazil, in spite of overall reductions in the prevalence of undernutrition in recent decades, the nutritional situation of indigenous children remains worrying. The First National Survey of Indigenous People's Health and Nutrition in Brazil, conducted in 2008-2009, was the first study to evaluate a nationwide representative sample of indigenous peoples. This paper presents findings from this study on the nutritional status of indigenous children < 5 years of age in Brazil. METHODS: A multi-stage sampling was employed to obtain a representative sample of the indigenous population residing in villages in four Brazilian regions (North, Northeast, Central-West, and Southeast/South). Initially, a stratified probabilistic sampling was carried out for indigenous villages located in these regions. Households in sampled villages were selected by census or systematic sampling depending on the village population. The survey evaluated the health and nutritional status of children < 5 years, in addition to interviewing mothers or caretakers. RESULTS: Height and weight measurements were taken of 6,050 and 6,075 children, respectively. Prevalence rates of stunting, underweight, and wasting were 25.7%, 5.9%, and 1.3%, respectively. Even after controlling for confounding, the prevalence rates of underweight and stunting were higher among children in the North region, in low socioeconomic status households, in households with poorer sanitary conditions, with anemic mothers, with low birthweight, and who were hospitalized during the prior 6 months. A protective effect of breastfeeding for underweight was observed for children under 12 months. CONCLUSIONS: The elevated rate of stunting observed in indigenous children approximates that of non-indigenous Brazilians four decades ago, before major health reforms greatly reduced its occurrence nationwide. Prevalence rates of undernutrition were associated with socioeconomic variables including income, household goods, schooling, and access to sanitation services, among other variables. Providing important baseline data for future comparison, these findings further suggest the relevance of social, economic, and environmental factors at different scales (local, regional, and national) for the nutritional status of indigenous peoples.
Subject(s)
Child Nutrition Disorders/epidemiology , Indians, South American/statistics & numerical data , Malnutrition/epidemiology , Nutritional Status , Brazil/epidemiology , Child, Preschool , Female , Growth Disorders/epidemiology , Health Status Indicators , Health Surveys , Humans , Infant , Male , Multivariate Analysis , Prevalence , Thinness/epidemiologyABSTRACT
BACKGROUND: Anemia is the most prevalent nutritional deficiency globally, affecting about a quarter of the world population. In Brazil, about one-fifth of children under five years of age are anemic. Previous case studies indicate prevalence rates much higher among indigenous peoples in the country. The First National Survey of Indigenous People's Health and Nutrition in Brazil, conducted in 2008-2009, was the first survey based on a nationwide representative sample to study the prevalence of anemia and associated factors among indigenous children in Brazil. METHODS: The survey assessed the health and nutritional status of indigenous children < 5 years of age based on a representative sample of major Brazilian geopolitical regions. A stratified probabilistic sampling was carried out for indigenous villages. Within villages, children < 5 years of age in sampled households were included in the study. Prevalence rates of anemia were calculated for independent variables and hierarchical multivariate analysis were conducted to assess associations. RESULTS: Evaluation of hemoglobin levels was conducted for 5,397 children (88.1% of the total sample). The overall prevalence of anemia was 51.2%. Higher risk of presenting anemia was documented for boys, lower maternal schooling, lower household socioeconomic status, poorer sanitary conditions, presence of maternal anemia, and anthropometric deficits. Regional differences were observed, with the highest rate being observed in the North. CONCLUSIONS: The prevalence rates of anemia in indigenous children were approximately double than those reported for non-indigenous Brazilian children in the same age group. Similarly notable differences in the occurrence of anemia in indigenous and non-indigenous children have been reported for other countries. Deeper knowledge about the etiology of anemia in indigenous children in Brazil is essential to its proper treatment and prevention.