Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

INTRODUCTION: Newborn screening (NBS) in Portugal is a significant public health measure to provide early detection for specific disorders so that early treatment is possible. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. Its incidence is estimated in 1.6000-11.800 live births. A pilot study on 100.000 newborns is being carried out at the neonatal screening laboratory with the aim of determining the specificity, sensitivity, and feasibility of the SMA screening at the NBS laboratory in Portugal. METHODS: The study presented here was based on data obtained from neonatal screening, involving the analysis of 25.000 newborns. SMA screening is performed by a qualitative detection of exon 7 of the SMN1 gene. The assay was performed using a commercially available real-time PCR, the Eonis SMN1, TREC, and KREC kit. RESULTS/CASE REPORT: The dried blood spots of a total of 25.000 newborns were tested; among these newborns, two were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion. These two SMA-positive samples were sent to a specialized clinical centre and a peripheral blood sample was sent to the reference laboratory for confirmation of the exon 7 deletion and determination of the SMN2 copy number. CONCLUSION: Early diagnosis and intervention are important for SMA treatment to be effective; the treatment should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is strongly recommended. Currently, targeted therapies for SMA are available, and attempts are being made worldwide to include SMA screening in newborns.

Molecular detection of human T cell lymphotropic virus type 1 in pregnant women from Maranhão state, Brazil.

The human T cell lymphotropic virus (HTLV) has a worldwide distribution. HTLV is endemic in some states in the northeastern region of Brazil. This study investigated the prevalence of HTLV-1/2 in 713 pregnant women attended at the Central Laboratory of Public Health of Maranhão (LACEN-MA) between February 2015 and May 2017. Serological screening was performed by chemiluminescent microparticle immunoassay (CMIA), and reactive sera were subsequently confirmed by Western blot (WB) analysis. Five samples were determined to be HTLV-1/2-reactive by CMIA analysis, while in the WB analysis, three sera were positive for HTLV-1, and two were indeterminate. The polymerase chain reaction (PCR) analysis used to detect HTLV-1 proviral DNA showed a specific 336 base pair fragment for HTLV-1 in all CMIA-reactive serum samples. PCR products were purified and sequenced. We observed a 0.7% molecular prevalence of HTLV-1 infection. The average age of the HTLV-1-positive pregnant women was 25.6 ± 8.2 years, and the average age of the HTLV-1-negative pregnant women was 24.3 ± 6.2 (p = 0.60). We observed that there was no association of HTLV-1 infection with age, ethnicity, marital status, educational level, family income, age of first sexual intercourse, previous pregnancy, breastfeeding, intravenous drug use by partner, history of blood transfusions, or use of condoms. The prevalence of HTLV-1 observed in pregnant women demonstrated the need to implement public health policies for the screening of HTLV-1/2 in prenatal care and counseling to avoid breastfeeding by infected women; this approach could control vertical transmission and reduce the spread of this virus in the population.

Chemoradiotherapy completion and neutropenia risk in HIV patients with cervical cancer.

Cervical cancer (CC) is one of the acquired immunodeficiency syndrome (AIDS) defining diseases and the human immunodeficiency virus (HIV) infection is thought to relate with increased acute toxicity of chemoradiotherapy (CRT).We investigated the effect of HIV status in the incidence of neutropenia associated with cisplatin-based CRT for CC and its impact in treatment completion.This is a single-center retrospective cohort study. Data collection was performed for all the consecutive stage Ib-IV CC women treated with cisplatin-based CRT from 2012 to 2016, and with known HIV status.Sixty-one patients were included, 6 were HIV+. HIV+ patients had a higher risk of neutropenia at any cycle during cisplatin CRT [adjusted odds ratio (OR) 7.3, 95% confidence interval (95% CI) 1.02-52.3; P = .05]. Despite the absolute differences, mean neutrophil count was nonsignificantly lower in HIV+ women, both at baseline [4455/µL (interquartile range, IQR: 1830-6689) vs 6340 (IQR: 1720-18,970) for HIV-, P = .98] and at the end of treatment [1752/µL (IQR: 1100-2930) vs 3147/µL (IQR: 920-18,390) in HIV-; P = .06]. Moreover, when considering the effect of time, CRT seems to induce a consistent drop of neutrophils in both groups (P = .229). No febrile neutropenia events occurred.In HIV+ women, there were more CT cycle delays (P = .013), patients were more prone to use granulocyte colony-stimulating factor (G-CSF; HIV+ 40.0% vs HIV- 4.0%; P = .04) and less likely to complete at least 5 cycles of cisplatin (P = .02). All patients received adequate dose of pelvic RT, regardless of HIV status.HIV+ patients have a significantly increased risk of neutropenia during CRT treatment for CC and are less likely to complete chemotherapy with cisplatin.

The acceptability of ending a patient's life: a France-Portugal-Spain comparison.

The views of French, Portuguese, and Spanish people on end-of-life decisions were compared. Two hundred seventy-seven adults from Barcelona, Oporto, and Toulouse judged the acceptability of life-ending procedures in 42 scenarios composed of all combinations of 3 factors: the patient's age (30 or 80 years), the patient's life expectancy (days, weeks, or months), and the type of procedure (suicide, suicide assisted by the physician, euthanasia by the physician at the request of a suffering patient, euthanasia of a comatose patient at the family's request, euthanasia of a comatose patient as stipulated in the patient's advance directives, euthanasia of a comatose patient without advance directions and without a request from the family, or euthanasia of a suffering patient without a request from the patient). In all 3 countries, the type of procedure had the major effect. The 4 procedures implemented by the patient or at the patient's request were, on average, considered acceptable. The 2 procedures not implemented at the patient's request were considered unacceptable. Euthanasia of a comatose patient at the request of the family was judged mildly acceptable. The attitudes of the people in Toulouse, Oporto, and Barcelona concerning the acceptability of ending a patient's life have now largely converged, although Spanish participants were statistically significantly more accepting than French and Portuguese participants.

[Dysmenorrhea in adolescents and young adults: prevalence, related factors and limitations in daily living]. / Dismenorreia em adolescentes e jovens adultas: prevalência, factores associados e limitações na vida diária.

OBJECTIVE: To determine the prevalence of dysmenorrhea, limitations in daily living and health care use due to menstrual pain. MATERIAL AND METHODS: Observational transversal study of 274 adolescents and young adults (age ≤ 26) who had menstruated in the six months prior to the study, assisted at a Primary Health Care Center. Data were obtained by a 24-item anonymous questionnaire, which included questions about socio-demographic variables, menstrual cycle, presence, duration, severity, treatment and limitations of dysmenorrhea. RESULTS: One hundred and seventy-two (62.8%) subjects experienced menstrual pain. Of these, 65.7% reported having limitations in their daily activities due to dysmenorrhea. The prevalence of limitations in daily living was influenced by the presence of additional symptoms (r=0.331; p <0.001), pain intensity (r=0.281; p <0.001) and pain duration (r=0.172; p=0.027). The most commonly mentioned limitation was anxiety/depression (42.5%). Fourteen of the subjects reported missing school or work due to dysmenorrhea. A total of 48 respondents sought medical help and 135 reported using therapeutic measures to ease their pain. The most common treatments reported for pain treatment included NSAID's (38.5%) and oral pills (37.0%). The existence of additional symptoms (r=0.247; p=0.001) and the intensity of pain (r=0.160; p=0.039) led to the search for health care. CONCLUSIONS: Dysmenorrhea is highly prevalent among this sample of adolescents and young adults and is related to absenteeism. Thus, health care providers should regularly screen for dysmenorrhea and offer appropriate treatment.

Psychometric properties of the Forgiveness Likelihood Scale among Portuguese adolescents.

To facilitate use of the Forgiveness Likelihood Scale in cross-cultural studies, the psychometric characteristics of the translated scale were examined among 192 adolescents in Portugal (86 men and 106 women). The Forgiveness Likelihood Scale is a 10-item Likert-type scale designed to measure tendency to forgive across situations. Cronbach alpha was .89. Confirmatory factor analysis showed that the questionnaire was unidimensional among Portuguese high school students.