Surgical Management Of Congenital Thoracic Disorders: A 15-Year Center Experience.

INTRODUCTION: Congenital thoracic disorders represent a spectrum of fetal lung bud development abnormalities, which may affect breathing capacity and quality of life. We aim to evaluate the impact of surgery in the treatment of 4 major congenital conditions. MATERIALS AND METHODS: We performed a retrospective cohort analysis of patients who underwent surgical treatment in our tertiary center, from 2007 to 2022. RESULTS: Over the 15-year period, we treated 33 patients, with a male predominance of 55%. 22 patients (67%) were asymptomatic. When symptomatic, the recurrence of respiratory infections was the most common clinical presentation (18%). In 13 patients (39%), diagnosis was achieved through fetal ultrasonography. This study encompassed 13 patients with pulmonary sequestration (39%), 11 patients with bronchogenic cysts (33%), 7 patients with congenital pulmonary airway malformation (21%) and 2 patients with congenital lobar emphysema (6%). Considering solely lung malformation conditions, we accounted 22 patients with a median age of 3 [1-67] years-old. Surgery comprised bilobectomy (9%), lobectomy (77%), lobectomy with wedge resection (5%), segmentectomy (5%) and wedge resection (5%). Concerning bronchogenic cysts, we treated 11 patients with a median age of 19 [14-66] years-old. We identified 1 hilar, 1 intrapulmonary and 9 mediastinal lesions, of which 4 were paraesophageal, 4 were subcarinal and 1 was miscellaneous. Overall, surgery was conducted by thoracotomy in 61% of patients, VATS in 33% and RATS in 6%. The median drainage time was 3 [1-40] days and median hospital stay was 4 [1-41] days. There were no cases of mortality. Ensuing, 94% of patients experienced clinical improvement after surgery. CONCLUSION: Early diagnosis of congenital thoracic malformations increased considerably with the improvement in imaging technology and prenatal screening. Treatment may include expectant conservative treatment. However, in selected cases, surgery may play an important role in symptomatic control and prevention of disease progression.

Lobar Lung Transplantation: A Single-Center 10-Year Experience.

BACKGROUND: The shortage of donors for lung transplants is the main limitation of the preceding. Lobar transplantation is an alternative especially useful in patients with short stature and small thoracic cavities. The aim of this study was to perform a descriptive analysis of Portuguese patients who underwent lobar lung transplantation. METHODS: A retrospective study was conducted, and patients submitted to lobar lung transplantation from January 2012 to December 2023 were evaluated. A descriptive analysis was made, including demographic data, lung diseases, waiting list dynamics, pre-transplant evaluations, and post-transplant outcomes. RESULTS: Sixteen lobar transplants were performed with a predominance of female patients and a median age of 47 years. Most patients had interstitial lung disease or bronchiectasis either due to cystic fibrosis or non-cystic fibrosis. The median predicted total lung capacity (pTLC) ratio was 0.73. The median waiting list time was 6 months with 9 urgent transplants and 1 emergent lobar retransplant. Extracorporeal membrane oxygenation (ECMO) was used in pre-, intra-, and postoperative periods. Most transplanted lobes were the median lobe (ML) + right upper lobe (RUL) and left upper lobe (LUL). The median length of stay was 58 days, with complications such as PDG grade 3, bronchial tree ischemia, and concentrical stenosis of bronchial anastomosis. Six patients died in this period, 1 in the immediate postoperative period and 5 during the post-transplant hospitalization, with a median survival of 20.7 months and a 1-year and 5-year survival rate of 60%. CONCLUSION: Our results show a population with an increased waiting list converging in many urgent cases, with an early mortality and high primary graft dysfunction rate. Nevertheless, mid- and long-term survival are promising.

Lung Transplantation in Pulmonary Arterial Hypertension: The Portuguese Experience.

BACKGROUND: In patients with pulmonary arterial hypertension (PAH), refractory to medical therapy, lung transplantation emerges as an option. This study describes the outcomes of 8 PAH patients who underwent lung transplantation. METHODS: A retrospective, single-center study was conducted among patients with PAH who underwent lung transplantation in our center. RESULTS: Patients had a median age of 46 years, with female sex predominance (75%). Causes of HAP were pulmonary veno-occlusive disease (n = 5, 62.5%), idiopathic PAH (n = 2, 25%), and heritable PAH (n = 1, 12.5%). Pre-transplant hemodynamics revealed a median mean pulmonary artery pressure of 58.5 mm Hg (48-86). All patients received bilateral lung transplants with extracorporeal membrane oxygenation support, displaying immediate post-transplant hemodynamic improvement. Primary graft dysfunction grade 3 (PGD 3) was observed in 75% of patients. Five patients (62.5%) died, with a 72.9% survival at 12 months and 29.2% at 24 months post-transplantation. CONCLUSION: Our study reveals the complexity and challenges of lung transplants in patients with PAH. Despite notable immediate hemodynamic improvements, high rates of PGD 3 and the survival rate remain a concern. Further research to define optimal peri and post-transplant management to improve survival is required.

The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature.

Adrenoleukodystrophy, a rare genetic disease associated with the X chromosome (X-ALD - X-linked adrenoleukodystrophy), predominantly affects males and stems from mutations in the ABCD1 gene, responsible for transporting very long chain fatty acids (VLCFA) into peroxisomes. It leads to adrenal insufficiency (AI) and axonal demyelination. In males, the phenotype varies from isolated adrenocortical insufficiency and progressive myelopathy to cerebral adrenoleukodystrophy (CALD). The aim of this case series is to characterize patients with different clinical presentations of X-ALD with follow-up at a tertiary Portuguese hospital. All four patients were males, and the median age at the diagnosis was 5 years. Three patients were diagnosed through family screening, with the oldest already displaying hyperpigmentation. Two distinct forms were identified: adolescent CALD (25%) and isolated primary adrenal insufficiency (75%). Analytical studies revealed elevated plasma VLCFA levels in all cases, and genetic analysis demonstrated two different mutations in the ABCD1 gene. This disorder requires early diagnosis for improved prognosis. Screening male children with primary AIfor X-ALD using a VLCFA panel should be considered, particularly after ruling out the most common causes or when learning difficulties are evident. Genetic confirmation of the diagnosis is essential, enabling genetic counseling, family planning, and preimplantation genetic diagnosis.

Absence of methicillin-resistant Staphylococcus aureus colonization among immunocompetent healthy adults: Insights from a longitudinal study.

Methicillin-resistant Staphylococcus aureus (MRSA) has long been known as a major cause of hospital-acquired (HA-MRSA) infections worldwide. For the past twenty years, an increasing number of studies have described its emergence in the community as well. In Portugal, a country with a high-prevalence of HA-MRSA, there are only limited data available on the epidemiology of MRSA in the community. We studied the prevalence of S. aureus and MRSA colonization among healthy adults in Portugal. Between February 2015 and December 2016, a longitudinal study was conducted in which 87 adults aged 25-50 years old were followed for six months. For each participant nasopharyngeal, oropharyngeal and saliva samples were obtained monthly and, in some cases, weekly. A total of 1,578 samples (n = 526 for each sampling site) were examined for the presence of S. aureus and MRSA by classical culture-based methods. Fifty-seven adults (65.5%) carried S. aureus at least once during the six months period of the study: 19.5% were persistent S. aureus carriers and 46.0% were intermittent carriers. Carriage rates per sampling site were 20.5% in nasopharynx, 18.3% in oropharynx, and 13.5% in saliva. Simultaneous screening of the three sampling sites increased detection of S. aureus, which overall occurred in 34.4% of the 526 sampling time-points. No MRSA were isolated. In conclusion, this study adds novel information about the MRSA scenario in the Portuguese community. Our results indicate that, in Portugal, MRSA does not seem to circulate among healthy adults without risk factors and therefore this age group does not constitute, at the current time, a reservoir of MRSA in the community.

Phenolic and lipophilic metabolite adjustments in Olea europaea (olive) trees during drought stress and recovery.

The frequency of combined stress events is increasing due to climate change and represents a new threat to olive (Olea europaea) culture. How olive plants modulate their profile of metabolites under multiple stressing agents remains to unveil, although several metabolites affect plants' resilience, and olive production and quality. Young olive plants were exposed to a water deficit (WD) for 30 days and then exposed to a shock of heat and high UVB-radiation (WDHS+UVB treatment) for 2 days. Then, plants were re-watered and grown under optimal conditions (recovery) for 30 days. Leaves were collected after stress and recovery, analysed by liquid and gas chromatography, and the lipophilic and phenolic profiles were characterized. Except for the oleuropein derivatives, the qualitative metabolite profile was similar during stress and recovery. Metabolite increases or decreases in response to stress were stronger when WD was followed by WDHS+UVB treatment. Phenolic compounds (luteolin-7-O-glucoside, quercetin-3-O-rutinoside, apigenin-7-O-glucoside, chrysoeriol-7-O-glucoside, kaempferol derivatives, oleuropein, and lucidumoside C) were the most involved after WD and WDHS+UVB, possibly acting as reactive oxygen species (ROS) scavengers. Lipophilic compounds were more relevant during the recovery period. The catabolism of fatty acids and carbohydrates may provide the necessary energy for plant performance reestablishment, and sterols, long-chain alkanes, and terpenes metabolic pathways may be shifted for the production of compounds with a more important stress protection role. This work highlights for the first time that tolerance mechanisms activated by WD in olive plants are related to metabolite changes, that are adjusted when other stressors are overlapped (WDHS+UVB), and also help the plants recover. This metabolites' plasticity represents an essential contribution to understanding how dry-farming olive orchards may deal with drought combined with high UV-B or heat.

MAJOR PULMONARY SURGERY IN PATIENTS WITH COMPROMISED LUNG FUNCTION.

INTRODUCTION: The risk stratification of lung resection is fundamentally based on the results of pulmonary function tests. In patients considered to be at risk, major surgery is generally denied, opting for potentially less curative therapies. OBJECTIVE: To evaluate the postoperative outcomes of major lung surgery in a group of patients deemed high risk. METHODS: We performed a retrospective review of clinical records of all patients submitted to lobectomy, bilobectomy or pneumonectomy in a 3-year period in a reference Thoracic Surgery Unit. The patients were then divided in two groups: group A composed of patients with normal preoperative pulmonary function and group B which included patients with impaired lung function, defined as FEV1 and/or DLCO ≤60%. RESULTS: A total of 234 patients were included, 181 (77.4%) in group A and 53 (22.6%) in group B. In group B, patients had more smoking habits, were more often associated with chronic obstructive pulmonary disease and were also more frequently submitted to thoracotomy. When surgery was motivated by primary lung cancer this group had a more advanced clinical stage of the disease. In the postoperative period, these patients had longer hospital stay, longer chest drainage time and greater need for oxygen therapy at home, however, no statistically significant difference was noted in morbidity or mortality. CONCLUSIONS: Major thoracic surgery can be safely performed in selected patients considered to be high risk for resection by pulmonary function tests. A potentially curative surgery should not be denied based on respiratory function tests alone.

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning PMM2 Gene Pleiotropy.

Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.

Validity and reliability of the Intelligibility in Context Scale: European Portuguese version.

The purpose of the study was to evaluate the validity, reliability, sensitivity and specificity of the European-Portuguese version of the Intelligibility in Context Scale (ICS-EP). Seventy-six children (age: M = 60.6, SD = 8.1 months), 25 having a parent or teacher concern about how they talked and 51 with no concern, were assessed with the phonetic-phonological test (TFF-ALPE) to calculate the following severity measures: percentage of phonemes correct (PPC), percentage of consonants correct (PCC), and percentage of vowels correct (PVC). Parents also filled out a questionnaire about their child's development (e.g. concern about how the child talks). The ICS was then completed by parents to estimate their children's intelligibility with different communicative partners. The results showed that item-level scores were different according to communicative partners. The mean ICS score for the whole sample was 4.5 (SD = 0.6), showing that children were "usually" to "always" intelligible. The ICS had excellent internal consistency (α = 0.96). Children with parental concern about their speech presented significantly lower mean scores (M = 3.91, SD = 0.59) than children without parental concerns (M = 4.78, SD = 0.36). There was a positive correlation between the ICS scores and PPC (r = .655), PCC (r = .654), and PVC (r = .588). A simple linear model was also obtained between the ICS mean score and the severity measures analyzed. High values were obtained for sensitivity (0.80) and specificity (0.84), using a cut-off point of 4.36. We conclude that the ICS-EP has good psychometric properties, suggesting it to be a valid tool for estimating children's intelligibility when talking with different communicative partners. Therefore, this version of the ICS can be used as a screening measure for children's speech intelligibility.

Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis.

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.

Propriedades psicométricas da versão portuguesa da Nova Escala de Satisfação Sexual - versão curta / Psychometric properties of the Portuguese version of the New Sexual Satisfaction Scale - Short

Introdução. A satisfação sexual constitui atualmente um constructo essencial no campo do estudo da sexualidade humana. Objetivo. A presente investigação teve como objetivo proceder à validação da versão portuguesa da Nova Escala de Satisfação Sexual - versão curta (NSSS‐S), instrumento em formato curto que avalia a satisfação sexual em homens e mulheres. Material e métodos. Recorreu‐se a um total de 298 participantes de ambos os sexos, os quais preencheram o questionário com a tradução para português da NSSS‐S. Resultados. Foram demonstradas as principais propriedades psicométricas da validação da NSSS‐S, das quais se destacaram a estrutura fatorial bidimensional e o alfa de Cronbach (≥0,89). Discussão. A NSSS‐S revelou ter a estrutura bidimensional da NSSS original e obtiveram‐se valores bons a nível de consistência interna, de validade convergente, de validade divergente e de validade concorrente. Conclusões. As boas propriedades psicométricas encontradas justificam e reforçam a recomendação de utilização da NSSS‐S na população portuguesa (AU)

Introduction. Sexual satisfaction is an essential construct in the study of human sexuality. Objective. The aim of the present study was to validate the Portuguese version of the New Sexual Satisfaction Scale-Short (NSSS‐S), a short form scale that assesses sexual satisfaction among men and women. Material and methods. A total of 298 participants completed the Portuguese version of the NSSS‐S. Results. The main psychometric properties of the Portuguese version of the NSSS‐S were assessed, most importantly the two‐factor structure and Cronbach's alpha (≥0.89). Discussion. The NSSS‐S revealed the bidimensional structure of the original NSSS and good values were obtained in terms of internal consistency, convergent validity, divergent validity and concurrent validity. Conclusions. The use of the Portuguese version of the NSSS‐S is justified and reinforced since it has sound psychometric properties (AU)

Validação portuguesa da Escala de Busca de Sensações Sexuais / Portuguese validation of the Sexual Sensation Seeking Scale

Introdução. O conceito de busca de sensações sexuais constitui um constructo interessante a explorar no campo do estudo da sexualidade humana. Objetivo. A presente investigação teve como objetivo proceder à validação da versão portuguesa da Escala de Busca de Sensações Sexuais (SSSS), instrumento unidimensional que avalia a busca de sensações sexuais em homens e mulheres. Material e métodos. Recorreu‐se a um total de 298 participantes de ambos os sexos, os quais preencheram o questionário com a tradução para português da SSSS. Resultados. Foram demonstradas as principais propriedades psicométricas da validação da SSSS. Discussão. A estrutura unidimensional original da SSSS foi replicada e obtiveram‐se valores bons a nível de consistência interna, de validade convergente e de validade concorrente. Conclusões. As boas propriedades psicométricas encontradas justificam e reforçam a recomendação de utilização da versão da SSSS para a população portuguesa (AU)

Introduction. The concept of sexual sensation seeking is an interesting construct in the study of human sexuality. Objective. The aim of the present study was to validate the Portuguese version of the Sexual Sensation Seeking Scale (SSSS), a unidimensional scale that assesses sexual sensation seeking among men and women. Material and methods. A total of 298 participantscompleted the Portuguese version of the SSSS. Results . The main psychometric properties of the Portuguese version of the SSSS were assessed. Discussion. The original unidimensional structure of the SSSS was replicated and good values were also obtained in terms of internal consistency, convergent validity, divergent validity and concurrent validity. Conclusions. The use of the Portuguese version of the SSSS is justified and reinforced since it has sound psychometric properties (AU)

Adaptação portuguesa da Escala de Aborrecimento Sexual / Portuguese adaptation of the Sexual Boredom Scale

Introdução. A noção de aborrecimento sexual constitui um constructo potencialmente útil e interessante a explorar no campo da sexualidade humana. Objetivo. A presente investigação teve como objetivo proceder à validação da versão portuguesa da Escala de Aborrecimento Sexual (SBS), instrumento que avalia o aborrecimento sexual em homens e mulheres. Material e métodos. Recorreu‐se a um total de 298 participantes de ambos os sexos, os quais preencheram o questionário com a tradução para português da SBS. Resultados. Foram demonstradas as principais propriedades psicométricas da validação da SBS. Discussão. A estrutura da versão portuguesa da SBS revelou ser unidimensional e foram eliminados 3 itens devido a baixas saturações. Obtiveram‐se valores bons a nível de consistência interna, de validade convergente, e de validade concorrente. Conclusões. As boas propriedades psicométricas encontradas justificam a recomendação de utilização da adaptação da SBS para a população portuguesa (AU)

Introduction. The notion of sexual boredom is a potentially useful and interesting construct in the field of human sexuality. Objective. The aim of the present study was to validate the Portuguese version of the Sexual Boredom Scale (SBS), a scale that assesses sexual boredom among men and women. Material and methods. A total of 298 participants completed the Portuguese version of the SBS. Results. The main psychometric properties of the Portuguese version of the SBS were assessed. Discussion. The Portuguese version of the SBS revealed a unidimensional factor structure and three items were eliminated due to low loadings. Good values were obtained in terms of internal consistency, convergent validity, divergent validity and concurrent validity. Conclusions. The use of the Portuguese adaptation of the SBS is justified since it has sound psychometric properties (AU)

Validação portuguesa da Nova Escala de Satisfação Sexual / Portuguese validation of the New Sexual Satisfaction Scale

Introdução: A satisfação sexual constitui atualmente um constructo essencial no campo do estudo da sexualidade humana. Objetivo: A presente investigação teve como objetivo proceder à validação da versão portuguesa da Nova Escala de Satisfação Sexual (NSSS), instrumento bidimensional que avalia a satisfação sexual em homens e mulheres. Material e métodos: Recorreu-se a um total de 298 participantes de ambos os sexos, os quais preencheram o questionário com a tradução para português da NSSS. Resultados: Foram demonstradas as principais propriedades psicométricas da validação da NSSS. Discussão: A estrutura bidimensional original da NSSS foi replicada e obtiveram-se valores bons a nível de consistência interna, de validade convergente e de validade concorrente. Conclusões: As boas propriedades psicométricas encontradas justificam e reforçam a recomendação de utilização da NSSS na população portuguesa (AU)

Introduction: Sexual satisfaction is an essential construct in the study of human sexuality. Objective: The aim of the present study was to validate the Portuguese version of the New Sexual Satisfaction Scale (NSSS), a bidimensional scale that assesses sexual satisfaction among men and women. Material and methods: A total of 298 participants completed the Portuguese version of the NSSS. Results: The main psychometric properties of the Portuguese version of the NSSS were assessed. Discussion: The original bidimensional structure of the NSSS was replicated and good values were also obtained in terms of internal consistency, convergent validity, divergent validity and concurrent validity. Conclusions: The use of the Portuguese version of the NSSS is justified and reinforced since it has sound psychometric properties (AU)

A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge.

Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.