Miracle-dz/UniFAR-FTUs huggingface dataset:
Swallowing function in patients with base of tongue cancers treated with primary surgery and reconstructed with a modified radial forearm free flap.

OBJECTIVE To report swallowing outcomes and biomechanical properties of the base of the tongue (BOT) and the posterior pharyngeal wall (PPW) in patients who undergo surgical reconstruction with the beavertail modification of radial forearm free flap after primary resection of BOT cancer. DESIGN Prospective cohort study with a 1-year minimum follow-up performed between October 1, 2001, and August 31, 2005. SETTING Tertiary care facility. PATIENTS Patients diagnosed as having primary carcinoma of the BOT were treated with primary surgical resection and reconstruction followed by radiotherapy. Inclusion criteria were collection of videofluoroscopic swallowing study (VFSS) data before and 1 year after surgery. Forty-one patients were treated during a 5-year period, and 20 were included in the final analysis. INTERVENTIONS Reconstruction of BOT defects with the beavertail modification of radial forearm free flap followed by postoperative radiation. MAIN OUTCOME MEASURES Aspiration score, pharyngeal residue score, and biomechanical analysis of BOT and PPW mobility were performed using images from VFSSs. Both the BOT and PPW positions were measured from 2 static bony landmarks. RESULTS Of the 20 patients in the final analysis, 19 (95%) were able to swallow safely at 1 year. Mobility of the BOT after surgery was reduced in all postoperative VFSS data. Anteroposterior dimension or bulk of the BOT was preserved. No significant difference was found in PPW mobility. CONCLUSIONS The beavertail modification of the radial forearm free flap is a good reconstructive option after BOT cancer extirpation. The procedure preserves the bulk of the BOT after cancer treatment and maintains adequate BOT-PPW apposition. This allows structures such as the pharyngeal, oral, and suprahyoid musculature to contract and generate the necessary force to propel the food bolus through the oropharynx, resulting in a safe swallow.
Molecular analysis for patients with IL‐12 receptor β1 deficiency

Autosomal recessive interleukin‐12 receptor β1 (IL‐12Rβ1) deficiency has been described as the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), characterized by clinical disease due to weakly virulent mycobacteria such as Bacille Calmette–Guérin (BCG) vaccines and environmental mycobacteria (EM) in children who are normally resistant to most infectious agents. Here, we report the cases of five patients with mycobacterial infection, including one with systemic lupus erythematosus (SLE). Blood samples from patients and healthy controls were activated in vitro with BCG, BCG+IL‐12, and BCG+IFN‐γ. The results showed reduced or no production of IFN‐γ after IL‐12 stimulation in all samples. IL‐12Rβ1 expression on the cell surface was negligible or absent. Genetic analysis showed five novel mutations.
Television exposure as a risk factor for aggressive behavior among 3-year-old children.

OBJECTIVE To examine associations of child television (TV) exposure and household TV use with aggressive behavior among 3-year-old children while controlling for demographic characteristics and risk and protective factors for aggression. DESIGN The Fragile Families and Child Wellbeing Study, a prospective cohort study. SETTING Data collected at home and by telephone from parents of children born from 1998 to 2000 from 20 cities. PARTICIPANTS Mothers who completed a 36-month in-home survey and met inclusion criteria (n = 3128). MAIN EXPOSURE Direct child TV exposure and household TV use were the primary explanatory variables. Additional risk factors included neighborhood disorder and maternal factors like depression. OUTCOME MEASURES Childhood aggression was assessed with the Child Behavior Checklist/2-3. Multivariate linear regression models were used to examine associations between TV measures, additional risk factors, and childhood aggression. RESULTS Children who were spanked in the past month (beta = 1.24, P < .001), lived in a disorderly neighborhood (beta = 2.07, P < .001), and had a mother reporting depression (beta = 0.92, P < .001) and parenting stress (beta = 0.16, P < .001) were significantly more likely to exhibit aggressive behavior. Direct child TV exposure (beta = 0.16, P < .001) and household TV use (beta = 0.09, P < .001) were also significantly associated with childhood aggression, even when controlling for other factors. CONCLUSIONS Three-year-old children exposed to more TV, both directly and indirectly, are at increased risk for exhibiting aggressive behavior. Further research is essential to determine whether pediatric recommendations concerning TV and children should include limits for general household TV use.
Assessment of PAX6 alleles in 66 families with aniridia

We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of sporadic aniridia (10 families) had complete (8 cases) or partial (2 cases) deletion of the PAX6 gene. Sequence changes that introduced a premature termination codon into the open reading frame of PAX6 occurred in 47 families (62 individuals). Three individuals with sporadic aniridia (three families) had sequence changes (one deletion, two run‐on mutations) expected to result in a C‐terminal extension. An intronic deletion of unknown functional significance was detected in one case of sporadic aniridia (one family), but not in unaffected relatives. Within these 61 families, single nucleotide substitutions accounted for 30/61 (49%), indels for 23/61 (38%), and complete deletion of the PAX6 locus for 8/61 (13%). In five cases of sporadic aniridia (five families), no disease‐causing mutation in the coding region was detected. In total, 23 unique variants were identified that have not been reported in the Leiden Open Variation Database (LOVD) database. Within the group assessed, 92% had sequence changes expected to reduce PAX6 function, confirming the primacy of PAX6 haploinsufficiency as causal for aniridia.
Advances in Radiation Oncology in Lung Cancer

Lung cancer is one of the most common primary invasive malignancies seen in oncology practice and the neoplastic disease with the highest mortality numbers in the world. This volume prepared by Dr. B. Jeremic is rather unique in being devoted mainly to the radiation oncology of lung cancer. Both non-small cell and small cell lung cancer are considered. All aspects of radiation therapy and the integration of radiation therapy with surgery and chemotherapy are debated in detail. Regardless of initial treatment recurrence of lung cancer is unfortunately a frequent observation and the possibility of using radiation therapy in this situation is addressed in a separate chapter. Another interesting chapter deals with the ageing population and accumulated evidence identifies radiation therapy as an important treatment modality in elderly patients with lung cancer. International experts also provide discussions of other aspects of this disease, including molecular biology and genetics of lung cancer, angiogenesis and contemporary issues in staging. There are updates in lung cancer surgery, chemotherapy and in the advances in supportive and palliative care for lung cancer patients. Treatment related toxicity, quality of life and prognostic factors are also considered. The last part of the volume covers future strategies in lung cancer including IMRT, stereotactic radiotherapy, respiratory gating, novel substances, PET scanning, heavy particles and translational research. In conclusion this book gives a detailed review of the advances in the management of patients with lung cancer and I can highly recommend, the book not only to radiation oncologists but also to all who are involved in the diagnosis and treatment of this disease.
Child hunger and long-term adverse consequences for health.

OBJECTIVE To examine the effects of hunger, an extreme manifestation of food insecurity, on subsequent health outcomes using data from the Canadian National Longitudinal Survey of Children and Youth (NLSCY). DESIGN Longitudinal survey, 1994-2004/2005. SETTING Canada. PARTICIPANTS A total of 5809 children aged 10 to 15 years and 3333 youth aged 16 to 21 years. MAIN EXPOSURES Longitudinal survey data spanning a 10-year period were analyzed using logistic regression. Measures of hunger from NLSCY cycles 1 through 5 were used to differentiate participants who were ever hungry from those who were never hungry. A 3-level variable was created to assess the effect of repeated episodes of hunger. Covariates included participants' age, sex, baseline health, and household sociodemographic characteristics. Stratified models were used to examine the relation between hunger and health among boys and girls separately. OUTCOME MEASURES The NLCSY cycle 6 outcomes included poor general health, chronic health conditions, and asthma. RESULTS Among children, both ever being hungry and multiple episodes of hunger were associated with poorer general health but not with chronic conditions or asthma. Higher odds of chronic conditions and of asthma were observed among youth who experienced multiple episodes of hunger compared with those who were never hungry. Associations between hunger and poorer health outcomes persisted among girls in stratified analyses. CONCLUSIONS Children and youth who experience hunger are more likely to have poorer health, and repeated exposure appears to be particularly toxic. Our findings point to the relevance of food insecurity in childhood as a marker of vulnerability, with implications for clinical practice and advocacy.
Thiazolidinediones are associated with a decreased risk of atrial fibrillation compared with other antidiabetic treatment: a nationwide cohort study

Aim The aim of this study was to investigate the association between thiazolidinediones (TZDs) vs. other antidiabetic drugs and risk of atrial fibrillation (AF) in diabetic patients. Method and results Diabetes mellitus (diabetes) increases the risk of AF by approximately 34%. TZD is an insulin sensitizer that also has anti-inflammatory effects, which might decrease the risk of AF compared with other antidiabetic drugs. We used data from the Danish nationwide registries to study 108 624 patients with diabetes and without prior AF who were treated with metformin or sulfonylurea as first-line drugs. The incidence of AF was significantly lower with TZD as the second-line antidiabetic treatment compared with other second-line antidiabetic drugs (P < 0.001). The 10 year cumulative incidence [95% confidence interval (95% CI)] of AF was 6.2% (3.1-9.3%) with TZD vs. 10.2% (9.8-10.6%) with other antidiabetic drugs. The decreased risk of AF remained significant after adjusting for age, sex, and comorbidities with a hazard ratio (95% CI) of 0.76 (0.57-1.00), P = 0.047 associated with TZD treatment compared with other antidiabetic drugs. Conclusion Use of a TZD to treat diabetes was associated with reduced risk of developing AF compared with other antidiabetic drugs as second-line treatment.
Modern Radiological Imaging of Osteoarthritis of The Hip Joint With Consideration of Predisposing Conditions

Abstract Osteoarthritis is the most common disease of the hip joint in adults and has a high socioeconomic impact. This review article discusses the value of three imaging modalities in the diagnosis of osteoarthritis of the hip joint: projection radiography, computed tomography, and magnetic resonance imaging (MRI). Besides established imaging diagnostics of osteoarthritis, this review also outlines new MRI techniques that enable the biochemical analysis of hip joint cartilage and discusses predisposing deformities of the hip joint including femoroacetabular impingement (FAI) with labral pathologies, hip joint dysplasia, malrotation, and, finally, femoral head necrosis, for which early detection and an exact description of the extent and localization of the necrotic area are extremely important. Conventional X-rays remain indispensable for the diagnosis of osteoarthritis, while MRI is able to depict additional early symptoms and signs of activity of the disease. With the increasing number of joint-preserving interventions such as surgical hip luxation and hip joint arthroscopy for treating FAI, high-resolution imaging is gaining further importance for both pre- and postoperative diagnostics because it can accurately recognize early stages of joint damage. With high-resolution MR sequences and MR arthrography, the detailed depiction of the thin cartilaginous coating of the hip joint has become quite possible. Key points: • Projection radiography is the method of choice for the diagnostic work-up of osteoarthritis of the hip joint. • Using computed tomography, the amount of acetabular bone stock prior to total hip arthroplasty is assessed in selected patients. • Magnetic resonance imaging can substantiate the indication of surgery in case of discrepancy between clinical symptoms and radiological findings of the hip joint. • If distinct and left untreated, predisposing conditions (such as femoroacetabular impingement) may lead to early development of osteoarthritis of the hip joint. • Functional cartilage imaging can verify changes in the biochemical composition of the cartilage before they become morphologically evident. Citation Format: • Weber MA, Merle C, Rehnitz C et al. Modern Radiological Imaging of Osteoarthritis of The Hip Joint With Consideration of Predisposing Conditions. Fortschr Röntgenstr 2016; 188: 635 – 651
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well‐described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32‐q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3‐q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32.
The economic effect of Planet Health on preventing bulimia nervosa.

OBJECTIVES To assess the economic effect of the school-based obesity prevention program Planet Health on preventing disordered weight control behaviors and to determine the cost-effectiveness of the intervention in terms of its combined effect on prevention of obesity and disordered weight control behaviors. DESIGN On the basis of the intervention's short-term effect on disordered weight control behaviors prevention, we projected the number of girls who were prevented from developing bulimia nervosa by age 17 years. We further estimated medical costs saved and quality-adjusted life years gained by the intervention over 10 years. As a final step, we compared the intervention costs with the combined intervention benefits from both obesity prevention (reported previously) and prevention of disordered weight control behaviors to determine the overall cost-effectiveness of the intervention. SETTING Middle schools. PARTICIPANTS A sample of 254 intervention girls aged 10 to 14 years. INTERVENTION The Planet Health program was implemented during the school years from 1995 to 1997 and was designed to promote healthful nutrition and physical activity among youth. MAIN OUTCOME MEASURES Intervention costs, medical costs saved, quality-adjusted life years gained, and cost-effectiveness ratio. RESULTS An estimated 1 case of bulimia nervosa would have been prevented. As a result, an estimated $33 999 in medical costs and 0.7 quality-adjusted life years would be saved. At an intervention cost of $46 803, the combined prevention of obesity and disordered weight control behaviors would yield a net savings of $14 238 and a gain of 4.8 quality-adjusted life years. CONCLUSIONS Primary prevention programs, such as Planet Health, warrant careful consideration by policy makers and program planners. The findings of this study provide additional argument for integrated prevention of obesity and eating disorders.
Use of a DASH food group score to predict excess weight gain in adolescent girls in the National Growth and Health Study.

OBJECTIVE To study the effects of selected dietary patterns, particularly a DASH (Dietary Approach to Stop Hypertension) eating pattern, on body mass index (BMI) throughout adolescence. DESIGN Prospective National Growth and Health Study. SETTING Washington, DC; Cincinnati, Ohio; and Berkeley, California. PARTICIPANTS A total of 2327 girls with 10 annual visits starting at age 9 years. MAIN EXPOSURES Individual DASH-related food groups and a modified DASH adherence score. MAIN OUTCOME MEASURE The BMI value from measured yearly height and weight over 10 years. RESULTS Longitudinal mixed modeling methods were used to assess the effects of individual DASH food groups and a DASH adherence score on BMI during 10 years of follow-up, adjusting for race, height, socioeconomic status, television viewing and video game playing hours, physical activity level, and total energy intake. Girls in the highest vs lowest quintile of the DASH score had an adjusted mean BMI of 24.4 vs 26.3 (calculated as weight in kilograms divided by height in meters squared) (P < .05). The strongest individual food group predictors of BMI were total fruit (mean BMI, 26.0 vs 23.6 for <1 vs ≥2 servings per day; P < .001) and low-fat dairy (mean BMI, 25.7 vs 23.2 for <1 vs ≥2 servings per day; P < .001). Whole grain consumption was more weakly but beneficially associated with BMI. CONCLUSIONS Adolescent girls whose diet more closely resembled the DASH eating pattern had smaller gains in BMI over 10 years. Such an eating pattern may help prevent excess weight gain during adolescence.
Modified steel basket technique for the treatment of equine cervical vertebral stenotic myelopathy - a case report

A mielopatia estenotica cervical (MEC), tambem conhecida com ataxia cervical ou sindrome de Wobbler, e causada por um estreitamento do canal vertebral devido a malformacao das vertebrais cervicais, resultando em uma compressao da medula espinhal e alteracoes neurologicas como ataxia, fraqueza e postura anormal. As opcoes de tratamento podem ser conservador ou cirurgico, sendo que ambos apresentam eficacia variavel. A tecnica cirurgica mais apropriada para a maioria dos casos e a artrodese, promovendo rapida e eficiente descompressao da medula espinhal. O objetivo deste trabalho e relatar o caso de um equino com MEC que foi tratado cirurgicamente aplicando-se uma tecnica modificada com um novo tipo de cesto metalico. O diagnostico foi realizado por meio do historico, sinais clinicos e evidencias radiograficas de compressao medular entre as vertebras C3 e C4, apos descartar possiveis agentes infecciosos. O procedimento cirurgico para descompressao e estabilizacao do ponto de estenose foi realizado utilizando-se a tecnica modificada de Cloward e um novo modelo de cesto de aco fixado com dois parafusos. Evidencias de fusao foram obtidas por exames radiograficos periodicos durante seis meses de pos-operatorio. O novo modelo de cesto de aco utilizado nessa cirurgia provou ser eficiente para descompressao e estabilizacao das vertebras, permitindo o desenvolvimento da artrodese e remissao dos sinais clinicos. A fixacao do cesto com parafusos reduziu o risco de migracao do implante.
Aplicando recomendações da Escala de Braden e prevenindo úlceras por pressão: evidências do cuidar em enfermagem

Questiona-se o risco de acometimento de ulcera de pressao (UP) no cliente, e a validade do cuidado de enfermagem aplicando a escala de Braden para verificar as evidencias desse cuidado na incidencia da UP. Utilizou-se o metodo de medidas biofisiologicas em clientes de UTI. Encontrou-se 11 clientes com UP, numa incidencia de 26,83%. A maioria (57,1%) de ulcera encontra-se no estagio I. Clientes com UP tem escores menores que os sem UP mostrando sensibilidade para predizer o risco de UP. Concluiu-se que: a evidencia dos cuidados de enfermagem foi demonstrada pela densidade de 47,12 % para os clientes sem UP; a incidencia das UP foi menor que as encontradas em outras UTIs; os cuidados de enfermagem preventivos reduzem as UP.
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café‐au‐lait macules (CALM) and other NF1 signs, but no germline NF1 mutations.
Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy

Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males and 113 females) from 36 families carrying 15 different VCP mutations. We analyzed the correlation between the different mutations and prevalence, age of onset and severity of myopathy, Paget's disease of bone (PDB), and frontotemporal dementia (FTD), and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients, respectively, beginning at an average age of 43, 41, and 56 years, respectively. Approximately 9% of patients with VCP mutations had an amyotrophic lateral sclerosis (ALS) phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large interfamilial and intrafamilial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C mutation in our cohort and R159C having a later age of onset of myopathy compared with other molecular subtypes.