Miracle-dz/UniFAR-FTUs huggingface dataset:
Prevalência estimada da doença renal crônica terminal em crianças no estado de São Paulo

OBJECTIVE: To estimate the prevalence of pediatric end-stage renal disease and evaluate demographics and renal disease characteristics in state of Sao Paulo over the year 2008. METHODS: Observational, descriptive, and cross-sectional study based on a population sample with subjects < 18 years. The data collecting assumed three forms: 1. A questionnaire for dialysis units; 2. Search in the Transplant Center to determine the number and characteristics of patients who had been in a transplant waiting list over the study period; 3. Search in the database of patients registered at the Latin American Collaborative Registry of Pediatric Kidney Transplantation. RESULTS: Data from 301 patients aged 9.0 ± 5.8, including 140 girls (46.5%), resulting in an estimate prevalence of 23.4 cases per million age-related population (pmarp). The age group most frequently found was 10 to 15 years (32.2%), and urinary tract malformation was the most usual known etiology (24.9%). Most children underwent kidney transplantation (62.1%) and among subjects on dialysis, hemodialysis was predominant (71.2%). The Sistema Unico de Saude - Unified National Health System - (SUS) provided the financial support for treatments. CONCLUSION: The prevalence of 23.4 cases pmarp found by the authors is lower than that reported in Western world. We believe data were underestimated in the present study, as few dialysis units returned the completed questionnaire. This potential bias does not invalidate the exploratory character of results. Further mechanisms for retrospective and earlier data collecting on pediatric chronic renal disease (CRD) are needed so that the burden of this serious health condition can be appropriately sized up.
Chondroperichondrial clip myringoplasty: a new technique for closure of tympanic membrane perforations

Abstract Objective: This study aimed to evaluate the feasibility and efficacy of the recently described chondroperichondrial clip myringoplasty technique, and make comparisons with conventional myringoplasty techniques. Methods: The study comprised a select group of patients with chronic otitis media (mucosal disease only), with central tympanic membrane perforations affecting less than 50 per cent of the pars tensa, and an air–bone gap below 35 dB. A modified custom-made cartilage perichondrial graft was placed using the recently described ‘clip’ technique. Results: The graft success rate was 91.3 per cent. Post-operatively, the air–bone gap was within 10 dB in 52 per cent of cases and within 10–20 dB in 48 per cent of cases. There were few minor complications. Conclusion: Chondroperichondrial clip myringoplasty can be considered as an alternative minimally invasive technique for the repair of select cases of tympanic membrane perforations. This technique, which showed impressive results, was associated with minimum morbidity and reduced operative time.
miR‐9 regulates ferroptosis by targeting glutamic‐oxaloacetic transaminase GOT1 in melanoma

Ferroptosis is a recently recognized form of regulated cell death driven by lipid‐based reactive oxygen species (ROS) accumulation. However, the molecular mechanisms of ferroptosis regulation are still largely unknown. Here we identified a novel miRNA, miR‐9, as an important regulator of ferroptosis by directly targeting GOT1 in melanoma cells. Overexpression of miR‐9 suppressed GOT1 by directly binding to its 3′‐UTR, which subsequently reduced erastin‐ and RSL3‐induced ferroptosis. Conversely, suppression of miR‐9 increased the sensitivity of melanoma cells to erastin and RSL3. Importantly, anti‐miR‐9 mediated lipid ROS accumulation and ferroptotic cell death could be abrogated by inhibiting glutaminolysis process. Taken together, our findings demonstrate that miR‐9 regulates ferroptosis by targeting GOT1 in melanoma cells, illustrating the important role of miRNA in ferroptosis.
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

BACKGROUND & AIMS Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. METHODS We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD. RESULTS In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features. CONCLUSION The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients.
Voices of the Costa Rican scientific diaspora: Policy lessons from a decade of experiences from our scientists abroad

Scientific diasporas have been identified as valuable resources to strengthen science, technology, and innovation in their countries of origin. In this context, our paper seeks to contribute by addressing the following research questions: What are the main features of the Costa Rican scientific diaspora, and what policy lessons can be extracted from their experiences abroad? Toward this goal, we analyzed ten years of diaspora perspectives as collected by TicoTal, an online database and network of Costa Rican scientists studying and working abroad created by the National Academy of Sciences (ANC) in 2010. Our study reveals the main features of the Costa Rican scientific diaspora using 121 interviews published over a ten-year period: we identified the academic areas in which the diaspora has specialized, the countries where they were trained, their current location, the most frequent funding mechanisms and sources that enabled professional opportunities abroad, the level of engagement and collaboration they maintain with the Costa Rican STI ecosystem, along with the incentives they consider important to support and harness the potential of this community to advance STI goals in the country. Results from this analysis can inform national policies and investment strategies in R&D infrastructure and resources, by providing a roadmap to engage with scientific diasporas and benefit from their training and talent, as well as guide future scholarship and exchange programs.
Are parkin patients particularly suited for deep‐brain stimulation?

Patients with parkin mutations are known to have slower PD progression and a better response to levodopa at lower doses than patients with idiopathic Parkinson's disease. To determine the effects of deep brain stimulation (DBS) on such patients, we have compared the follow‐up after surgery of 7 patients with one parkin mutation, 7 patients with two parkin mutations, and 39 patients without parkin mutations. Twelve to 24 months after neurosurgery, the daily doses of levodopa equivalent were significantly lower in patients with two parkin mutations, indicating that these patients benefit from DBS, and they might have more durable results. © 2008 Movement Disorder Society
Efficacy and Safety of Ombitasvir, Paritaprevir, and Ritonavir in an Open-Label Study of Patients With Genotype 1b Chronic Hepatitis C Virus Infection With and Without Cirrhosis.

BACKGROUND & AIMS Interferon-free treatment options are rapidly evolving for patients with chronic hepatitis C virus (HCV) genotype 1b (GT1b) infection with cirrhosis and for nonresponders to prior pegylated interferon and ribavirin therapy. We performed a phase 2b, open-label trial of the combination of ombitasvir (a NS5A replication complex inhibitor), paritaprevir, and ritonavir (an NS3/4A protease inhibitor)-an interferon- and ribavirin-free regimen-in difficult-to-treat patients, including prior null responders and patients with cirrhosis. METHODS In an international study, 82 patients without cirrhosis (42 treatment-naive and 40 prior null responders) and 99 with cirrhosis (47 treatment-naive and 52 treatment-experienced with prior relapse or a null or partial response) with chronic HCV GT1b infection received ombitasvir (25 mg), paritaprevir (150 mg), and ritonavir (100 mg) once daily for 12 weeks (without cirrhosis) or 24 weeks (with cirrhosis). The primary efficacy endpoint was sustained virologic response 12 weeks after the end of treatment (SVR12). RESULTS In treatment-naive and null responder patients without cirrhosis, rates of SVR12 were 95.2% and 90.0%, respectively. In treatment-naive and treatment-experienced patients with cirrhosis, rates of SVR12 were 97.9% and 96.2%, respectively. No clinically meaningful differences in rates of SVR12 were observed between patients with or without cirrhosis. Virologic relapse occurred in 3 null responders without cirrhosis and 1 with cirrhosis; virologic breakthrough occurred in 1 null responder without cirrhosis. Common adverse events included headache, asthenia, pruritus, and diarrhea. One patient discontinued taking the drugs because of treatment-related adverse events. CONCLUSIONS An interferon- and ribavirin-free regimen of ombitasvir, paritaprevir, and ritonavir, achieved high rates of SVR12 in patients with HCV GT1b infection with and without cirrhosis. This regimen was well tolerated and was associated with low rates of treatment discontinuation. ClinicalTrials.gov no: NCT01685203.
Apathy following subthalamic stimulation in Parkinson disease: A dopamine responsive symptom

To evaluate the effects of the dopamine D2‐D3 agonist ropinirole in patients who developed apathy after complete withdrawal from dopaminergic medication following successful subthalamic nucleus (STN) stimulation for advanced Parkinson disease (PD). We assessed apathy (Apathy Scale, Apathy Inventory), mood (Montgomery‐Åsberg Depression Rating Scale), cognitive functions (Mattis Dementia rating scale, frontal score, executive tests) and motor state (UPDRS‐III) in 8 PD patients treated with STN stimulation without dopaminergic treatment and who became apathetic. Assessments were made at baseline and after 6 weeks of ropinirole treatment (7.2 ± 5.9 mg/d; range 1–18 mg/d). Apathy improved with ropinirole in all but 1 patient (54 ± 24%; range 0–78%). Mood also improved (75 ± 31%; range 0–100%), but not in correlation with the change in apathy. Cognitive performance was not modified. Stimulation contacts were located within the STN in all patients except the one who remained apathetic in spite of ropinirole treatment (zona incerta). We suggest that apathy, which was compensated for by an enhancement of D2‐D3 receptor stimulation in PD patients with STN stimulation: (1) depends on a dopaminergic deficit in associativo‐limbic areas of the brain and (2) can be avoided if a dopaminergic agonist is administered postoperatively. © 2008 Movement Disorder Society
Falls and gait disturbances in Huntington's disease

Falls are common in patients with Huntington's disease, but the incidence, falling circumstances and contributing factors have never been examined. We recorded falls in 45 early to midstage Huntington's disease patients, both retrospectively (12 months) and prospectively (3 months). Fall rates were related to relevant baseline measures, including the Unified Huntington's Disease Rating Scale (UHDRS) and quantitative measures of balance (using angular velocity sensors) and gait (using a pressure‐sensitive walkway). Balance and gait measures were compared between patients and 27 healthy age‐matched controls. Twenty‐seven patients (60%) reported two or more falls in the previous year and were classified as fallers. During prospective follow‐up 40% reported at least one fall. A high proportion of falls (72.5%) caused minor injuries. Compared to nonfallers, fallers showed significantly higher scores for chorea, bradykinesia and aggression, as well as lower cognitive scores. Compared to controls, Huntington patients had a decreased gait velocity (1.15 m/s versus 1.45 m/s, P < 0.001) and a decreased stride length (1.29 m versus 1.52 m, P < 0.001). These abnormalities were all significantly greater in fallers compared to nonfallers. In addition, fallers had an increased stride length variability and a significantly greater trunk sway in medio‐lateral direction compared to nonfallers. We conclude that falls are common in Huntington's disease. Contributing factors include a combination of “motor” deficits (mainly gait bradykinesia, stride variability and chorea, leading to excessive trunk sway), as well as cognitive decline and perhaps behavioral changes. These factors should be considered as future targets for therapies that aim to reduce falls in Huntington's disease. © 2008 Movement Disorder Society
The montreal cognitive assessment as a screening tool for cognitive impairment in Parkinson's disease

Cognitive impairment is common in Parkinson's disease (PD) and can occur early in the disease course. No effective screening test exists for detection of early or mild cognitive impairment in PD. We examined the Montreal Cognitive Assessment (MoCA) as a screening tool for cognitive dysfunction in PD. The test–retest intraclass correlation coefficient was 0.79 and the interrater intraclass correlation coefficient was 0.81. The correlation coefficient between the MoCA and a neuropsychologic battery was 0.72. The MoCA is reliable and valid in the PD population and warrants further study as a screening tool for cognitive dysfunction. © 2008 Movement Disorder Society
Histerectomia vaginal versus histerectomia abdominal em mulheres sem prolapso genital, em maternidade-escola do Recife: ensaio clínico randomizado

PURPOSE: to compare intra- and postoperative results of vaginal hysterectomy with those of abdominal hysterectomy in women without genital prolapse or adnexal pathology. METHODS: a randomized, open clinical trial was conducted, involving 35 patients without genital prolapse scheduled for total hysterectomy due to benign disease, at IMIP, Recife, Brazil. These patients were randomly assigned to vaginal hysterectomy (19 patients) or abdominal hysterectomy (16 patients). Main outcome measures included estimated blood loss, rate of blood transfusion, duration of surgery, postoperative pain (intensity and analgesic requirement), time in hospital, postoperative complications, recovery time and patient satisfaction. Statistical analysis was performed using c2, exact Fisher and Mann-Whitney tests at a 5% level of significance. RESULTS: estimated blood losses were significantly lower in vaginal hysterectomy (median of 520 mL) than in abdominal hysterectomy (median 902 mL). There was no blood transfusion among patients of the vaginal hysterectomy group, in contrast to 19% of the abdominal hysterectomy group. Duration of surgery was similar (median of 120 min in both groups). Postoperative pain, as measured by visual analog scale and analgesic requirement, was lower for vaginal hysterectomy than for abdominal hysterectomy. There was no statistically significant difference regarding frequency of postoperative complications. There was one case of infection in each group and one case of thrombosis in the vaginal hysterectomy group. Postoperative hospital stay was shorter in the vaginal group. Recovery time was significantly shorter in the vaginal group (median of 35 days) versus the abdominal group (median 40 days). Overall patient satisfaction with the operation was similar in the two groups. CONCLUSIONS: patients without genital prolapse submitted to vaginal hysterectomy for treatment of benign diseases had some advantages in relation to those submitted to abdominal hysterectomy: lower intraoperative blood loss, lower postoperative pain and faster recovery time. Vaginal hysterectomy may replace abdominal hysterectomy in most patients who require hysterectomy.
Parkinson's disease in Arabs: A systematic review

Studies of specific populations have provided invaluable knowledge about Parkinson's disease (PD), especially in the field of genetics. The present report systematically reviews the medical literature on PD in Arabs. Medline and Embase were searched, and 24 article were identified: genetic (n = 17), epidemiological (n = 3), and clinical series (n = 5). Both autosomal dominant and recessive forms of inherited PD are described, associated with four genes (Parkin, PINK1, LRRK2, and PARK9). The G2019S LRRK2 mutation is more common in both familial (37–42%) and apparently sporadic PD (41%) in North African Arabs than in Europeans and North Americans (2–3%). The incidence of PD is reported at 4.5 per 100,000 person‐years and reported prevalence at 27 to 43 per 100,000 persons. Hospital‐based clinical series suggest that parkinsonism is the commonest movement disorder. Clinical features of PD in Arabs are not significantly different from those reported elsewhere. PD was reported as the cause of dementia in around 7% of Arabs. The majority of studies relate to the role of genes in the etiology of PD in North African Arabs. Further genetic, epidemiological and clinical studies from the majority of Arabic countries may enhance our understanding of PD. © 2008 Movement Disorder Society.
Prospective three-year follow up of a cohort study of 240 patients with chronic facial pain.

BACKGROUND Patients often present with facial pain ascribed to sinusitis, despite normal nasal endoscopy and sinus computed tomography. Facial pain is increasingly recognised to be of neurological origin. METHOD A cohort of 240 patients with chronic facial pain was followed up for 36 months at an otolaryngological practice in Malta. The types of facial pain were classified according to International Headache Classification criteria. The body mass index, occupation and educational level of patients were compared with the general population. RESULTS Tension-type mid-facial pain and facial migraine without aura were the most common types of chronic facial pain. The sites of pain, symptoms, treatment and outcomes for these principal pain types are discussed. Patients with mid-facial pain were treated with low-dose amitriptyline for eight weeks. After three years, nearly half of the patients were symptom free, and in a third the pain changed from being chronic to being episodic. The treatment of patients with facial migraine was more varied but the length of time until recurrence of pain was similar. CONCLUSION The most effective long-term treatments for tension-type mid-facial pain and facial migraine were low-dose amitriptyline and low-dose amitriptyline and triptans, respectively.
Serotonin and dopamine transporter genes do not influence depression in Parkinson's disease

Altered levels of the neurotransmitters dopamine and serotonin are observed in both Parkinson's disease (PD) and depression. Therefore, the neurotransmitter transporter genes, SLC6A3 (dopamine) and SLC6A4 (serotonin) are candidates for depression in PD. We genotyped 24 tagging SNPs together with VNTRs and the SLC6A4 LPR polymorphism in 190 PD patients categorised according to lifetime history of depression. Log‐additive, dominant and recessive statistical models were constructed. No significant genotype or haplotype associations were observed suggesting that common genetic variables around the dopamine and serotonin transporter genes do not play a significant role in the etiology of depression in PD. © 2008 Movement Disorder Society
Modular organization of locomotor networks in people with severe spinal cord injury

Introduction Previous studies support modular organization of locomotor circuitry contributing to the activation of muscles in a spatially and temporally organized manner during locomotion. Human spinal circuitry may reorganize after spinal cord injury; however, it is unclear if reorganization of spinal circuitry post-injury affects the modular organization. Here we characterize the modular synergy organization of locomotor muscle activity expressed during assisted stepping in subjects with complete and incomplete spinal cord injury (SCI) of varying chronicity, before any explicit training regimen. We also investigated whether the synergy characteristics changed in two subjects who achieved independent walking after training with spinal cord epidural stimulation. Methods To capture synergy structures during stepping, individuals with SCI were stepped on a body-weight supported treadmill with manual facilitation, while electromyography (EMGs) were recorded from bilateral leg muscles. EMGs were analyzed using non-negative matrix factorization (NMF) and independent component analysis (ICA) to identify synergy patterns. Synergy patterns from the SCI subjects were compared across different clinical characteristics and to non-disabled subjects (NDs). Results Results for both NMF and ICA indicated that the subjects with SCI were similar among themselves, but expressed a greater variability in the number of synergies for criterion variance capture compared to NDs, and weaker correlation to NDs. ICA yielded a greater number of muscle synergies than NMF. Further, the clinical characteristics of SCI subjects and chronicity did not predict any significant differences in the spatial synergy structures despite any neuroplastic changes. Further, post-training synergies did not become closer to ND synergies in two individuals. Discussion These findings suggest fundamental differences between motor modules expressed in SCIs and NDs, as well as a striking level of spatial and temporal synergy stability in motor modules in the SCI population, absent the application of specific interventions.
Ten‐Year Clinical Experience with the Lumenless, Catheter‐Delivered, 4.1‐Fr Diameter Pacing Lead in Patients with and without Congenital Heart

Patients with congenital heart defects (CHD) often present more challenges to pacing therapy due to anatomy than those without CHD. The lumenless, 4.1Fr diameter M3830 pacing lead (Medtronic, Inc., Minneapolis, MN, USA), approved for use in 2005, has, to date, reported to have excellent short‐term (<6 years) lead performance. Unfortunately, very long‐term performance is unknown, especially among CHD patients and with implants at alternate pacing (AP) sites. This study reports a 10‐year clinical experience with the M3830 lead.
ARTHROSCOPIC SUTURING OF ULNAR AVULSIONS (TYPE I-B) OF THE TRIANGULAR FIBROCARTILAGE COMPLEX OF THE WRIST

We reviewed 17 patients with an arthroscopic repair of ulnar avulsions of the TFCC: 12 are considered good, 2 fair and 3 poor. No major complications occurred. The grip forced averaged 71.5% of the contralateral side. These results equal those of open procedures, without the necessity of an extensive approach.