cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.7710986.v1
title: Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population

description: ABSTRACT Aims: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. Methods: Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients. Results: Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the “ear of the lynx sign”. Conclusions: In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.
DOI: 10.6084/m9.figshare.7710968
title: Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

description: Abstract Introduction: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. Objective: This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation. Methods: Observational study that analyzed 100 ethnically characterized Brazilian patients with nonsyndromic severe to profound sensorineural hearing loss, who were negative or heterozygote for the 35delG mutation. GJB2 mutations were detected by DNA-based sequencing in this population. Participants' ethnicities were identified as Latin European, Non-Latin European, Jewish, Native, Turkish, Afro-American, Asian and Others. Results: Sixteen participants were heterozygote for the 35delG mutation; 14 participants, including three 35delG heterozygote's, had nine different alterations in the GJB2 gene. One variant, p.Ser199Glnfs*9, detected in two participants, was previously unreported. Three variants were pathogenic (p.Trp172*, p.Val167Met, and p.Arg75Trp), two were non-pathogenic (p.Val27Ile and p.Ile196Thr), and three variants were indeterminate (p.Met34Thr, p.Arg127Leu, and p.Lys168Arg). Three cases of compound heterozygosity were detected: p.[(Gly12Valfs*2)];[(Trp172*)], p.[(Gly12Valfs*2)](;)[(Met34Thr)], and p.[(Gly12Valfs*2)(;)[(Ser199Glnfs*9)]). Conclusion: This study detected previously unclassified variants and one case of previously unreported compound heterozygosity.
DOI: 10.6084/m9.figshare.7710962
title: ANALYSIS OF THE CLINICAL CHARACTERISTICS OF PERIANAL FISTULISING CROHN’S DISEASE IN A SINGLE CENTER

description: ABSTRACT Background: Clinical characteristics are keys to improve identification and treatment of Crohn´s disease (CD) so that large sample analysis is of great value. Aim: To explore the clinical characteristics of perianal fistulising CD. Methods: Analysis of 139 cases focused on their clinical data. Results: The proportion of males and females is 3.3:1; the mean age is 28.2 years; 47.5% of patients had anal fistula before CD diagnosis. Patients with prior perianal surgery and medication accounted for 64.7% and 74.1% respectively. The L3 type of lesion was present in 49.6% and the B1 and B2 types for 51.8% and 48.2% respectively; complex anal fistula was diagnosed in 90.6%. Symptoms of diarrhea were found in 46% and perianal lesions alone in 29.5% of patients. Abnormal BMI values was present in 44.6%; active CD activity index in 64.7%; and 94.2% had active perianal disease activity index. A proportion of patients manifest abnormal C-reactive protein, erythrocyte sedimentation rate, platelet, hemoglobin and albumin. Conclusion: We suggest that patients with anal fistula associated to these clinical features should alert the medical team to the possibility of CD, which should be further investigated through endoscopy and imaging examination of alimentary tract to avoid the damage of anal function by routine anal fistula surgery.
DOI: 10.7284/114541
title: Radiometer data collected during research cruise AT26-05 using a Eppley PIR instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710962.v1
title: ANALYSIS OF THE CLINICAL CHARACTERISTICS OF PERIANAL FISTULISING CROHN’S DISEASE IN A SINGLE CENTER

description: ABSTRACT Background: Clinical characteristics are keys to improve identification and treatment of Crohn´s disease (CD) so that large sample analysis is of great value. Aim: To explore the clinical characteristics of perianal fistulising CD. Methods: Analysis of 139 cases focused on their clinical data. Results: The proportion of males and females is 3.3:1; the mean age is 28.2 years; 47.5% of patients had anal fistula before CD diagnosis. Patients with prior perianal surgery and medication accounted for 64.7% and 74.1% respectively. The L3 type of lesion was present in 49.6% and the B1 and B2 types for 51.8% and 48.2% respectively; complex anal fistula was diagnosed in 90.6%. Symptoms of diarrhea were found in 46% and perianal lesions alone in 29.5% of patients. Abnormal BMI values was present in 44.6%; active CD activity index in 64.7%; and 94.2% had active perianal disease activity index. A proportion of patients manifest abnormal C-reactive protein, erythrocyte sedimentation rate, platelet, hemoglobin and albumin. Conclusion: We suggest that patients with anal fistula associated to these clinical features should alert the medical team to the possibility of CD, which should be further investigated through endoscopy and imaging examination of alimentary tract to avoid the damage of anal function by routine anal fistula surgery.
DOI: 10.6084/m9.figshare.7710968.v1
title: Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

description: Abstract Introduction: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. Objective: This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation. Methods: Observational study that analyzed 100 ethnically characterized Brazilian patients with nonsyndromic severe to profound sensorineural hearing loss, who were negative or heterozygote for the 35delG mutation. GJB2 mutations were detected by DNA-based sequencing in this population. Participants' ethnicities were identified as Latin European, Non-Latin European, Jewish, Native, Turkish, Afro-American, Asian and Others. Results: Sixteen participants were heterozygote for the 35delG mutation; 14 participants, including three 35delG heterozygote's, had nine different alterations in the GJB2 gene. One variant, p.Ser199Glnfs*9, detected in two participants, was previously unreported. Three variants were pathogenic (p.Trp172*, p.Val167Met, and p.Arg75Trp), two were non-pathogenic (p.Val27Ile and p.Ile196Thr), and three variants were indeterminate (p.Met34Thr, p.Arg127Leu, and p.Lys168Arg). Three cases of compound heterozygosity were detected: p.[(Gly12Valfs*2)];[(Trp172*)], p.[(Gly12Valfs*2)](;)[(Met34Thr)], and p.[(Gly12Valfs*2)(;)[(Ser199Glnfs*9)]). Conclusion: This study detected previously unclassified variants and one case of previously unreported compound heterozygosity.
DOI: 10.6084/m9.figshare.7710953
title: ALVEOLAR BONE PATTERN AND SALIVARY LEPTIN LEVELS AMONG PREMENOPAUSAL OBESE WOMEN

description: ABSTRACT Background: Systemic bone loss may lead to more severe periodontal destruction, decreasing local bone mineral density. Aim: A cross-sectional designed was performed to study associations among alveolar bone pattern, salivary leptin concentrations, and clinical periodontal status in premenopausal obese and eutrophic women. Methods: Thirty morbid obese (G1) and 30 normal-weight (G2) women were included. Anthropometric and periodontal measurements (probing depth - PD, clinical attachment levels - CAL, presence of calculus, bleeding on probing -BOP, and plaque accumulation) were assessed. OHIP-14 was used for assessment of oral health impact on quality of life. Panoramic radiography was used to obtain the panoramic mandibular index (PMI), mandibular cortical index (MCI), and mental index (MI). Intraoral periapical (PA) radiography was taken to measure the total trabecular bone volume. Leptin was measured in saliva of fasted overnight women. Results: Groups 1 and 2 differed in all anthropometric aspects, but height. Pocket depth, calculus, BOP, and plaque index were worse in G1. No differences between groups were found considering OHIP. Normal-weight subjects showed higher proportion of dense bone trabeculae than obese subjects for pre-molars, but not for molars. Mental and panoramic mandibular indexes did not differ and were in normal level. Leptin concentration was dependent only on BMI. Conclusion: Obesity affected the periodontal conditions, the alveolar bone pattern, and the salivary leptin concentration.
DOI: 10.7284/114559
title: Radiometer data collected during research cruise AT26-05 using a Eppley PSP instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710953.v1
title: ALVEOLAR BONE PATTERN AND SALIVARY LEPTIN LEVELS AMONG PREMENOPAUSAL OBESE WOMEN

description: ABSTRACT Background: Systemic bone loss may lead to more severe periodontal destruction, decreasing local bone mineral density. Aim: A cross-sectional designed was performed to study associations among alveolar bone pattern, salivary leptin concentrations, and clinical periodontal status in premenopausal obese and eutrophic women. Methods: Thirty morbid obese (G1) and 30 normal-weight (G2) women were included. Anthropometric and periodontal measurements (probing depth - PD, clinical attachment levels - CAL, presence of calculus, bleeding on probing -BOP, and plaque accumulation) were assessed. OHIP-14 was used for assessment of oral health impact on quality of life. Panoramic radiography was used to obtain the panoramic mandibular index (PMI), mandibular cortical index (MCI), and mental index (MI). Intraoral periapical (PA) radiography was taken to measure the total trabecular bone volume. Leptin was measured in saliva of fasted overnight women. Results: Groups 1 and 2 differed in all anthropometric aspects, but height. Pocket depth, calculus, BOP, and plaque index were worse in G1. No differences between groups were found considering OHIP. Normal-weight subjects showed higher proportion of dense bone trabeculae than obese subjects for pre-molars, but not for molars. Mental and panoramic mandibular indexes did not differ and were in normal level. Leptin concentration was dependent only on BMI. Conclusion: Obesity affected the periodontal conditions, the alveolar bone pattern, and the salivary leptin concentration.
DOI: 10.6084/m9.figshare.7710941
title: Production and Characterization of a Silica-Alumina Membrane Using Novel Tubular Freeze-Cast Substrates

description: Development of new ceramic membranes has recently grown due to its superior thermal and mechanical stability. An interesting approach to manufacture asymmetric membranes is the production of aligned pore structure by the freeze-casting method. The lack of studies involving membrane production with tubular freeze-cast substrates warrants more research. In this study, a novel tubular freeze-cast alumina substrate was used for deposition of a silica top layer. The substrate showed radially aligned pores, indicating precise structure control. The obtained pore structure shows high potential for membrane manufacture. The silica layer was produced by the sol-gel method and dip-coated on the substrates with two different withdrawal speeds. The microporous silica showed pores smaller than 2 nm. The highest withdrawal speed resulted in broader substrate coverage. However, a uniform silica layer was only obtained after a second deposition. These results confirm the viability to use tubular freeze-cast substrates for production of nanofiltration membranes.
DOI: 10.6084/m9.figshare.7710941.v1
title: Production and Characterization of a Silica-Alumina Membrane Using Novel Tubular Freeze-Cast Substrates

description: Development of new ceramic membranes has recently grown due to its superior thermal and mechanical stability. An interesting approach to manufacture asymmetric membranes is the production of aligned pore structure by the freeze-casting method. The lack of studies involving membrane production with tubular freeze-cast substrates warrants more research. In this study, a novel tubular freeze-cast alumina substrate was used for deposition of a silica top layer. The substrate showed radially aligned pores, indicating precise structure control. The obtained pore structure shows high potential for membrane manufacture. The silica layer was produced by the sol-gel method and dip-coated on the substrates with two different withdrawal speeds. The microporous silica showed pores smaller than 2 nm. The highest withdrawal speed resulted in broader substrate coverage. However, a uniform silica layer was only obtained after a second deposition. These results confirm the viability to use tubular freeze-cast substrates for production of nanofiltration membranes.
DOI: 10.7284/114577
title: Water Temperature data collected during research cruise AT26-05 using a Sea-Bird SBE-48 instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710932
title: Performance and egg quality of laying hens fed with mineral sources and rosemary oil

description: Abstract In order to evaluate the effect of rosemary oil and micro mineral sources on the performance and egg quality of laying hens, 288 hens were used and distributed in a completely randomized design using a 2x3 factorial (mineral sources x rosemary oil) with six different diets and six replications. Diets were formulated containing inorganic or organic minerals, with or without added rosemary oil (100 and 200 mg kg-1). The treatments showed interaction for average egg weight, yolk color, albumen and yolk percentage, with significant results from the use of organic minerals compared to inorganic minerals. The addition of 200 mg kg-1 rosemary oil in diets improved laying rate, egg mass, specific gravity, number of pores on the shell when compared to other treatments. In conclusion, the use of 200 mg kg-1 of rosemary oil improves the performance of red laying hen eggs. The association between organic minerals and 100 mg kg-1 rosemary oil in laying hen diets increases yolk color and percentage of albumen. The use of organic minerals is superior to inorganic minerals as to improve the quality of eggs, increasing average egg weight, yolk color and percentage of albumen.
DOI: 10.7284/114523
title: TSG (Thermosalinograph) data collected during research cruise AT26-05 using a Sea-Bird SBE-45 instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710920
title: PARIETAL PERITONEUM GRAFT FOR DUODENUM INJURIES IN AN ANIMAL MODEL

description: ABSTRACT Background: Duodenal injuries and their surgical procedure cause a high morbidity and mortality. Aim: To assess the overall effectiveness of the auto-graft of peritoneum in the treatment of the perforation of the duodenum, aiming to reduce surgery time, costs, complexity and mortality. Methods: Twelve New Zealand rabbits, ages 4-6 months, both sexes, underwent designed surgical grade III duodenal injuries that were repaired 18 h after. Rabbits were surgically treated with the proposed auto-graft of peritoneum. Results: No postoperative deaths were observed; the animals presented corporal weight increase and were euthanized six months later. There was no significant difference between both groups relating to the postoperative evolution or in the histological changes. Conclusion: Auto-graft of the peritoneum and posterior fascia is a useful option for duodenal repair and that is worth of evaluation for humans.
DOI: 10.7284/112056
title: Multiplexed data collected during research cruise AT26-06 using a WHOI Calliope instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710920.v1
title: PARIETAL PERITONEUM GRAFT FOR DUODENUM INJURIES IN AN ANIMAL MODEL

description: ABSTRACT Background: Duodenal injuries and their surgical procedure cause a high morbidity and mortality. Aim: To assess the overall effectiveness of the auto-graft of peritoneum in the treatment of the perforation of the duodenum, aiming to reduce surgery time, costs, complexity and mortality. Methods: Twelve New Zealand rabbits, ages 4-6 months, both sexes, underwent designed surgical grade III duodenal injuries that were repaired 18 h after. Rabbits were surgically treated with the proposed auto-graft of peritoneum. Results: No postoperative deaths were observed; the animals presented corporal weight increase and were euthanized six months later. There was no significant difference between both groups relating to the postoperative evolution or in the histological changes. Conclusion: Auto-graft of the peritoneum and posterior fascia is a useful option for duodenal repair and that is worth of evaluation for humans.
DOI: 10.6084/m9.figshare.7710908
title: The effect of vitamin D on cognitive functions in young female patients: a prospective controlled study using the Montreal Cognitive Assessment

description: ABSTRACT Aim: Our aim was to determine whether there is a relationship between vitamin D [25(OH)D] and cognitive functioning in women with low 25(OH)D levels. Methods: Ninety female patients, 25-45 years of age, who attended our outpatient clinic and had 25(OH)D levels &lt; 30 ng/mL, were included. The Montreal Cognitive Assessment (MoCA) scale was used to determine cognitive functioning; the scale is divided into seven subgroups. Patients were divided into three subgroups according to their 25(OH)D levels. After a three-month period of 25(OH) D replacement, the patients underwent a re-evaluation using the MoCA scale. Results: The total MoCA score before treatment was significantly different from the score after treatment (p &lt; 0.05). Language and delayed recall functions were significantly different before and after treatment (p &lt; 0.05). Conclusion: Vitamin D levels were related to cognitive functioning in our study group.
DOI: 10.6084/m9.figshare.7710911
title: COMPLICATIONS AFTER TRANSABDOMINAL SOAVE’S PROCEDURE IN CHILDREN WITH HIRSCHSPRUNG’S DISEASE

description: ABSTRACT Background: Hirschsprung’s disease is a congenital disorder that causes functional obstruction of large bowel. Aim: To evaluate complication and bowel function score of children with Hirschsprung’s disease who underwent transabdominal Soave’s procedure. Methods: In this study all the children with Hirschsprung’s disease who underwent transabdominal Soave procedure were evaluated regarding bowel function and complication of trans-abdominal Soave’s procedure. Results: Were enrolled 160 children. Enterocolitis and constipation were seen in 15% of the cases. Fecal incontinency was the least frequent study which was seen in 1% of the children. Conclusion: Constipation and enterocolitis was the most frequent complication following transabdominal Soave technique.
DOI: 10.6084/m9.figshare.7710914
title: Critical illness polyneuromyopathy in septic patients: Is it possible to diagnose it in a bedside clinical examination?

description: ABSTRACT Objective: To determine the sensitivity and specificity of peripheral and respiratory muscle strength tests in diagnosing critical illness polyneuromyopathy (CIPNM), compared with an electrophysiological examination. Methods: Fifty septic patients who required mechanical ventilation for at least five days, and without a previous history of muscle weakness, were included. Peripheral muscle strength was assessed using the Medical Research Council (MRC) score, handgrip strength by dynamometry, and respiratory muscle strength with maximum respiratory pressures. Diagnosis of CIPNM was either confirmed or rejected by an electrophysiological examination. Receiver operating characteristic curve analysis was performed to determine the cut-off values with the best sensitivity (SN) and specificity (SP) of the studied variables in the presence or absence of CIPNM. Results: Patients with CIPNM were older, more critical (APACHE IV/SAPS 3), had a longer hospitalization, required mechanical ventilation for longer, and had a higher rate of intensive care unit readmission. Cutoff values identified CIPNM patients using MRC scores, dynamometry according to sex, maximal expiratory and inspiratory pressures, as well as being confirmed by the electrophysiological examination, with good sensitivity and specificity: &lt; 40 (SN: 0.893; SP: 0.955); &lt; 7 kg (SN: 1; SP: 0.909) for men, &lt; 4 kg (SN: 0.882; SP: 1) for women; &lt; 34 cmH2O (SN: 0.808; SP: 0.909) and &gt; −40 cmH2O (SN: 0.846; SP: 0.909), respectively. Conclusion: The MRC score, dynamometry or maximum respiratory pressures can be used to identify patients with CIPNM at the intensive care bedside assessment. The healthcare professional can choose any of the methods studied to evaluate the patient, based on his experience and the resource available.
DOI: 10.7284/112058
title: ADCP (Acoustic Doppler Current Profiler) data collected during research cruise AT26-06 using a Hawaii UHDAS instrument system onboard the platform RV Atlantis

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7710908.v1
title: The effect of vitamin D on cognitive functions in young female patients: a prospective controlled study using the Montreal Cognitive Assessment

description: ABSTRACT Aim: Our aim was to determine whether there is a relationship between vitamin D [25(OH)D] and cognitive functioning in women with low 25(OH)D levels. Methods: Ninety female patients, 25-45 years of age, who attended our outpatient clinic and had 25(OH)D levels &lt; 30 ng/mL, were included. The Montreal Cognitive Assessment (MoCA) scale was used to determine cognitive functioning; the scale is divided into seven subgroups. Patients were divided into three subgroups according to their 25(OH)D levels. After a three-month period of 25(OH) D replacement, the patients underwent a re-evaluation using the MoCA scale. Results: The total MoCA score before treatment was significantly different from the score after treatment (p &lt; 0.05). Language and delayed recall functions were significantly different before and after treatment (p &lt; 0.05). Conclusion: Vitamin D levels were related to cognitive functioning in our study group.