cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.14306223
title: 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

description: CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.
DOI: 10.6084/m9.figshare.14306221
title: Package leaflets of the most consumed medicines in Portugal: safety and regulatory compliance issues. A descriptive study

description: CONTEXT AND OBJECTIVES: Package leaflets are necessary for safe use of medicines. The aims of the present study were: 1) to assess the compliance between the content of the package leaflets and the specifications of the pharmaceutical regulations; and 2) to identify potential safety issues for patients.DESIGN AND SETTING: Qualitative descriptive study, involving all the package leaflets of branded medicines from the three most consumed therapeutic groups in Portugal, analyzed in the Department of Pharmacoepidemiology, School of Pharmacy, University of Lisbon.METHODS: A checklist validated through an expert consensus process was used to gather the data. The content of each package leaflet in the sample was classified as compliant or non-compliant with compulsory regulatory issues (i.e. stated dosage and descriptions of adverse reactions) and optional regulatory issues (i.e. adverse reaction frequency, symptoms and procedures in cases of overdose).RESULTS: A total of 651 package leaflets were identified. Overall, the package leaflets were found to be compliant with the compulsory regulatory issues. However, the optional regulatory issues were only addressed in around half of the sample of package leaflets, which made it possible to identify some situations of potentially compromised drug safety.CONCLUSION: Ideally, the methodologies for package leaflet approval should be reviewed and optimized as a way of ensuring the inclusion of the minimum essential information for safe use of medicines.
DOI: 10.6084/m9.figshare.14306219
title: Post-transplant anemia and associated risk factors: the impact of steroid-free therapy

description: CONTEXT AND OBJECTIVE: The prevalence of post-renal transplant anemia (PTA) reported in the literature is variable and several factors contribute towards its pathophysiology. This study aimed to investigate the prevalence of PTA, its associated risk factors and the impact of therapy without steroids. DESIGN AND SETTING: Retrospective cohort study in a renal transplantation unit at a tertiary hospital. METHODS: Anemia was defined as hemoglobin (Hb) &lt; 12 g/dl in female adult recipients and &lt; 13 g/dl in males. Donor and recipient age and gender, type of donor, creatinine, delayed graft function, acute rejection, use of angiotensin-converting enzyme inhibitors (ACEI) or angiotensin receptor blockers (ARB) and therapy without steroids were investigated as risk factors for PTA through multivariate logistical regression analysis. RESULTS: Evaluations were performed on 258 recipients (mean age: 38.8 years; 60.5% males; 35.7% did not receive steroids). Anemia was diagnosed in 38% of the patients (at the sixth month, M6), 28% (M12), 32% (M24) and 45% (at last follow up). Donor age &gt; 50 years was associated with greater risks of PTA at M6 (odds ratio (OR) = 4.68) and M24 (OR = 6.57), as well as with therapy without steroids at M6 (OR = 2.96). Delayed graft function was independently associated with PTA at M6 (OR = 3.66) and M12 (OR = 2.85). CONCLUSION: The lowest prevalence of PTA was observed between M9 and M24 after renal transplantation. Delayed graft function, donor age and therapy without steroids were the most important factors associated with PTA.
DOI: 10.6084/m9.figshare.14306216
title: Rates and reasons for blood donor deferral, Shiraz, Iran. A retrospective study

description: CONTEXT AND OBJECTIVE: Knowledge of the reasons for donor deferral can help in planning more efficient recruitment strategies and evaluating donor selection criteria. This study aimed to investigate the rates and reasons for donor deferral. DESIGN AND SETTING: Retrospective study at Shiraz Blood Transfusion Center, Shiraz, Iran. METHODS: 141,820 volunteers were interviewed confidentially by physicians before blood donation. The rate of and reasons for donor deferral were investigated according to demographic characteristics. The data were analyzed using the comparison-of-proportions test of the MedCalc statistical software. RESULTS: 43,839 people (30.9%) who had come for blood donation were deferred, 1,973 (4.5%) of them permanently. The deferral rate was significantly higher among women, single individuals and first-time donors, compared with men, married individuals and those with a history of previous donation (P &lt; 0.0001). The deferral rate was significantly higher in the 17 to 30-year-old group (P &lt; 0.05). The reasons for deferral were divided into five categories: risk factors possibly related to HIV or hepatitis (43.6%), underlying diseases (31.9%), non-eligible conditions (13.5%), medications that interfere with blood donation (7.8%) and risk factors that may relate to bacterial or viral infections except HIV and hepatitis infections (3.2%). CONCLUSION: Effective measures are required for documenting the impact of deferral on blood availability, monitoring the effectiveness of and need for deferral, and determining the reasons and rates of deferral.
DOI: 10.6084/m9.figshare.14306214
title: Follow-up of women with atypical squamous cells cannot exclude high-grade squamous intraepithelial lesions (ASC-H)

description: CONTEXT AND OBJECTIVE: The concept that the presence of atypical squamous cells cannot exclude high-grade squamous intraepithelial lesions (ASC-H) was introduced in the 2001 Bethesda System of cervical cytology classification. This nomenclature defines cervical cancer precursor lesions. The objective of this study was to investigate the colpocytological-histological results from a three-year follow-up conducted on a cohort of women with reports of ASC-H who were attended during 2005-2006 at clinics of the Southern Metropolitan Healthcare Service of Santiago, Chile. DESIGN AND SETTING: Prospective cohort study at primary healthcare clinics in Santiago, Chile. METHODS : Colpocytological-histological follow-up was conducted over a three-year period on 92 women with cytological reports of ASC-H who were attended at primary healthcare clinics during 2005-2006. RESULTS : At the end of the follow-up period, high-grade lesions were evaluated and the following outcomes were observed: seven women presented invasive cancer (7.6%), 49 presented high-grade lesions (53.3%), 26 presented low-grade lesions (28.2%) and 10 presented normal results (10.9%). The "Conditional Probabilities Tree Diagram" was used to show the results from tests and the times of lesion detection. It demonstrated that, after a first report of ASC-H, clinical management needed to be interventionist. CONCLUSION: The follow-up on our cohort of women showed that the majority of uncertain ASC-H diagnoses (82.6%) had abnormal colposcopic results and that during the follow-up using ASC-H smears, two out of every three women developed high-grade lesions.
DOI: 10.6084/m9.figshare.14306211
title: Continuing education on child development for primary healthcare professionals: a prospective before-and-after study

description: CONTEXT AND OBJECTIVE: Children's developmental disorders are often identified late by healthcare professionals working in primary care. The aim of this study was to assess the impact of a continuing education program on child development, on the knowledge and practices of these professionals.DESIGN AND SETTING: Prospective single-cohort study (before-and-after study), conducted in the city of Belém, Pará , Brazil.METHODS: Two hundred and twenty-one professionals working in primary healthcare (82.2%) participated in a continuing education program on child development and were assessed before and after implementation of the program through tests on their knowledge of child development, consisting of 19 questions for physicians and 14 for nurses, and questionnaires on their professional practices.RESULTS: One to three years after the program, the mean number of correct answers in the tests had increased from 11.5 to 14.3 among physicians in the Healthy Family Program (Programa Família Saudável, PFS); 13.0 to 14.3 among physicians in Municipal Health Units (Unidades Municipais de Saúde, UMS); 8.3 to 10.0 among PFS nurses; and 7.8 to 9.4 among UMS nurses. In interviews with mothers attended by these professionals before the program, only 21.7% reported that they were asked about their children's development, 24.7% reported that the professional asked about or observed their children's development and 11.1% received advice on how to stimulate them. After the program, these percentages increased to 34.5%, 54.2% and 30.3%, respectively.CONCLUSIONS: Professionals who participated in the program showed improved performance regarding child development knowledge and practices.
DOI: 10.6084/m9.figshare.14306210
title: Diagnosis and treatment of mast cell disorders: practical recommendations

description: CONTEXT AND OBJECTIVE The term mastocytosis covers a group of rare disorders characterized by neoplastic proliferation and accumulation of clonal mast cells in one or more organs. The aim of this study was to assess the principal elements for diagnosing and treating these disorders. DESIGN AND SETTING Narrative review of the literature conducted at Grupo Fleury, São Paulo, Brazil. METHODS This study reviewed the scientific papers published in the PubMed, Embase (Excerpta Medica Database), Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) and Cochrane Library databases that were identified using the search term “mastocytosis.” RESULTS The clinical presentation of mastocytosis is remarkably heterogeneous and ranges from skin lesions that may regress spontaneously to aggressive forms associated with organ failure and short survival. Currently, seven subtypes of mastocytosis are recognized through the World Health Organization classification system for hematopoietic tumors. These disorders are diagnosed based on clinical manifestations and on identification of neoplastic mast cells using morphological, immunophenotypic, genetic and molecular methods. Abnormal mast cells display atypical and frequently spindle-shaped morphology, and aberrant expression of the CD25 and CD2 antigens. Elevation of serum tryptase is a common finding in some subtypes, and more than 90% of the patients present the D816V KIT mutation in mast cells. CONCLUSION Here, we described the most common signs and symptoms among patients with mastocytosis and suggested a practical approach for the diagnosis, classification and initial clinical treatment of mastocytosis.
DOI: 10.6084/m9.figshare.14306209
title: Patent blue and air as an alternative for resection of nonpalpable breast lesions: a case series

description: CONTEXT AND OBJECTIVE: Use of mammography for breast cancer screening has resulted in a significantly increased number of patients with nonpalpable radiological findings that need histopathological study for better management. The present study evaluated an alternative to excision of nonpalpable breast lesions, using injection of patent blue (CAS 3536-49-0) dye and air. DESIGN AND SETTING: Cohort study of 64 consecutive patients at a private clinic in the city of Teresina (Piauí), between January 2009 and December 2010. METHODS : The patients had received mammographic diagnoses of nonpalpable breast lesions classified as BI-RADS 3, 4 and 5, with indication of histopathological study. They underwent stereotaxy and/or ultrasound-guided injection of patent blue, for marking and subsequent excision of the lesion. RESULTS : The patients' mean age was 47.7 years. Nodes accounted for 53.1% of the breast abnormalities; microcalcifications, 37.5%; and complex cysts, 9.4%. In 89.1% of cases, the lesions were BI-RADS 4; 7.8% were BI-RADS 5 and 3.1% were BI-RADS 3. The histopathological findings were benign in 70.3% of the cases; atypical hyperplasia, 9.4%; and malignant, 20.3%. Among the malignant cases, 53.8% were carcinoma in situ and 46.2%, invasive carcinoma. The percentage of malignancy was 0% in BI-RADS 3 lesions; 14.3% in BI-RADS 4 and 100% in BI-RADS 5. In the cases of malignancy, the margins were clear in 92.3%. Reoperation to widen the margins was required in one patient. CONCLUSION: Excision of nonpalpable breast lesions marked with patent blue and air was possible in all cases.
DOI: 10.6084/m9.figshare.14306208
title: Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association

description: CONTEXT Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (&lt; 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia.
DOI: 10.6084/m9.figshare.14306205
title: A case of tacrolimus-induced supraventricular arrhythmia after kidney transplantation

description: CONTEXT Tacrolimus is a potent immunosuppressive drug often administered to transplant recipient patients and exhibits a variety of adverse cardiovascular effects. CASE REPORT We report a case of a 53-year-old Asian female who developed various arrhythmic phenomena including atrial premature complexes and supraventricular tachycardia after administration of tacrolimus. CONCLUSION Tacrolimus-associated arrhythmia after kidney transplantation may be life-threatening, and so patients undergoing this procedure should be carefully monitored.
DOI: 10.6084/m9.figshare.14306202
title: Diastrophic dysplasia: prenatal diagnosis and review of the literature

description: CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions) and mesomelia (shortening of the intermediate portions). Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR) and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C &gt; T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.
DOI: 10.6084/m9.figshare.14306199
title: Cross-cultural adaptation of the Beliefs about Medicines Questionnaire into Portuguese

description: CONTEXT AND OBJECTIVES The Beliefs about Medicines Questionnaire (BMQ-Specific) has proven useful for measuring patients' beliefs and associating them with non-adherence to treatment in several illness groups. The aim was to cross-culturally adapt the BMQ-Specific into Portuguese for the general population of medicine users. DESIGN AND SETTING Cross-sectional study conducted among users of public hospitals and outpatient clinics in Guarda and Covilhã, Portugal. METHODS The BMQ-Specific was translated using international recommendations for performing cross-cultural adaptation and was administered to 300 patients. An initial principal component analysis (PCA) was conducted with the extraction criterion of eigenvalue &gt; 1.0, followed by a second PCA with restriction to two components. Reliability was assessed by calculating Cronbach's alpha coefficient. RESULTS The mean scores obtained for the Necessity and Concerns subscales of the Portuguese BMQ-Specific were 19.9 (standard deviation, SD = 2.8) (range 10 to 25) and 17.7 (SD = 3.9) (range 6 to 30), respectively. The first PCA produced an unstable three-component structure for the Portuguese BMQ-Specific. The final PCA solution yielded a two-component structure identical to the original English version (a five-item Necessity and a six-item Concerns subscale), and explained 44% of the variance. Cronbach's alpha for the complete Portuguese BMQ-Specific was 0.70, and 0.76 and 0.67 for the Necessity and Concerns subscales, respectively. CONCLUSION A cross-culturally adapted Portuguese version of the BMQ-Specific questionnaire for use among the general population of medicine users was obtained, presenting good internal consistency and component structure identical to the original English version.
DOI: 10.6084/m9.figshare.14306198
title: Is neuromuscular electrical stimulation effective for improving pain, function and activities of daily living of knee osteoarthritis patients? A randomized clinical trial

description: CONTEXT AND OBJECTIVE Neuromuscular electrical stimulation (NMES) has been used in rehabilitation protocols for patients suffering from muscle weakness resulting from knee osteoarthritis. The purpose of the present study was to assess the effectiveness of an eight-week treatment program of NMES combined with exercises, for improving pain and function among patients with knee osteoarthritis. DESIGN AND SETTING Randomized clinical trial at Interlagos Specialty Ambulatory Clinic, Sao Paulo, Brazil. METHODS One hundred were randomized into two groups: NMES group and control group. The following evaluation measurements were used: numerical pain scale from 0 to 10, timed up and go (TUG) test, Lequesne index and activities of daily living (ADL) scale. RESULTS Eighty-two patients completed the study. From intention-to-treat (ITT) analysis comparing the groups, the NMES group showed a statistically significant improvement in relation to the control group, regarding pain intensity (difference between means: 1.67 [0.31 to 3.02]; P = 0.01), Lequesne index (difference between means: 1.98 [0.15 to 3.79]; P = 0.03) and ADL scale (difference between means: -11.23 [-19.88 to -2.57]; P = 0.01). CONCLUSION NMES, within a rehabilitation protocol for patients with knee osteoarthritis, is effective for improving pain, function and activities of daily living, in comparison with a group that received an orientation program. CLINICAL TRIAL REGISTRATION ACTRN012607000357459.
DOI: 10.6084/m9.figshare.14306196
title: Prevalence of urinary incontinence and pelvic floor muscle dysfunction in primiparae two years after cesarean section: cross-sectional study

description: CONTEXT AND OBJECTIVE There is uncertainty in the literature regarding the theory that obstetric events and pelvic floor injuries give rise to lower risk of subsequent urinary incontinence among women delivering via cesarean section than among women delivering vaginally. The objective of this study was to assess the two-year postpartum prevalence of urinary incontinence and pelvic floor muscle dysfunction and the factors responsible for them. DESIGN AND SETTING Cross-sectional study, conducted in a public university. METHODS 220 women who had undergone elective cesarean section or vaginal childbirth two years earlier were selected. Their urinary incontinence symptoms were investigated, and their pelvic floor muscle dysfunction was assessed using digital palpation and a perineometer. RESULTS The two-year urinary incontinence prevalences following vaginal childbirth and cesarean section were 17% and 18.9%, respectively. The only risk factor for pelvic floor muscle dysfunction was weight gain during pregnancy. Body mass index less than 25 kg/m 2 and normal pelvic floor muscle function protected against urinary incontinence. Gestational urinary incontinence increased the risk of two-year postpartum urinary incontinence. CONCLUSION Gestational urinary incontinence was a crucial precursor of postpartum urinary incontinence. Weight gain during pregnancy increased the subsequent risk of pelvic floor muscle dysfunction, and elective cesarean section did not prevent urinary incontinence.
DOI: 10.6084/m9.figshare.14306194
title: Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia

description: CONTEXT Homozygous (SS) sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT A 25-year-old woman with homozygous (SS) sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. CONCLUSION This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications.