Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.

Vitamin D-dependent type 1A rickets (VDDR-1A) is a rare autosomal recessive disease due to the inability to convert 25-hydroxyvitamin D [25(OH)D] to the active form 1.25-dihydroxyvitamin D [1.25(OH) 2 D] by the enzyme 25(OH)D-1α-hydroxylase leading to low or low-normal serum levels of [1.25(OH) 2 D]. We report two sisters with rickets in whom the diagnosis of VDDR-1A was a challenge. They had normal 1.25(OH)2D levels, which are unusual with this condition but may be explained by the identified genotype. Both have compound heterozygous for two, most likely, hypomorphic CYP27B1 alleles: the novel p.(Arg117Gly) variant, and p.(Ala129Thr), which are present in 0.43% of the African population. This report illustrates the variability of clinical, laboratory, and radiological presentation between two sisters with the same genotype, during phases of faster or slower growth. Genetic testing was crucial for establishing the diagnosis that optimized the management and genetic counseling.

Antimicrobial activity of geranium (Pelargonium graveolens) essential oil and its encapsulation in carioca bean starch ultrafine fibers by electrospinning.

Geranium (Pelargonium graveolens) is known for being an aromatic plant rich in bioactive compounds with antibacterial properties. In this study, geranium essential oil (GEO) was extracted and encapsulated in ultrafine bean starch fibers produced by electrospinning as an antibacterial agent. GEO revealed a composition rich in volatile compounds, including citronellol, cis-geraniol, ß-linalool, citronellyl formate, and linalool formate. In its free form, GEO exhibited high antibacterial activity against pathogenic bacteria strains (L. monocytogenes, S. aureus, and E. coli). The bean starch fibers, produced with and without the addition of GEO, were uniform and continuous, with an average diameter ranging from 249 to 373 nm. Confocal analysis indicated a uniform distribution of GEO in the fibers, with a loading capacity of 54.0 %, 42.9 %, and 36.5 % for 20 %, 30 %, and 40 % GEO concentrations, respectively. Remarkably, fibers containing 40 % GEO showed a significant reduction in tested bacteria (L. monocytogenes, S. aureus, and E. coli), suggesting promising applications in preventing losses and extending the shelf life of food through active packaging.

Trigger Thumb, Trigger Finger and Clasped Thumb.

Finger deformities are a common reason for medical observation in children. Subtle clinical differences can have a significant impact on the diagnosis and treatment of these patients. Identification of the basic diagnostic and treatment principles of trigger thumb, trigger finger, and clasped thumb is of paramount importance to all general practitioners, pediatricians, and orthopedic surgeons who are involved in the care of children. The purpose of this article is to review the most important concepts regarding these important topics, focusing on etiology, epidemiology, clinical presentation, diagnosis, treatment and prognosis.

Ray resection in pediatric population after trauma injuries.

The aim of this study is to assess the functional, emotional, and social adaptation of pediatric patients submitted to a hand ray resection to treat a traumatic hand injury. Retrospective study of pediatric patients undergoing hand ray resection, in the period 2013-2022, performed in two hospital institutions. Inclusion criteria: age less than 18 years, primary/secondary resection due to traumatic etiology and follow-up time of more than 1 year. Data concerning demographic information, lesion location, traumatic mechanism and surgical description were collected. Functional outcomes (QuickDASH Score), social and emotional integration (PEDSQL) and satisfaction were evaluated. Seven patients were included, with male predominance (n = 4) and the right side was the most affected (n = 5). Median age at the time of surgery was 10 years (2-15). Primary ray resection, without previous revascularization, was performed in three patients. Secondary ray resection was performed in four patients. Three patients with an unsuccessful revascularization procedure attempt another patient with a sequela with severe deformity. All patients presented a good adaptation to daily living activities, with good pinch and grip function. The median follow-up was 4 years (min:1; max:9). The scores were collected on six out of seven patients. Median QuickDASH score of 14 (min:11; max:22), and PEDSQL[physical] of 95.31 (min:78.13; max:100) and PEDSQL[social] of 93.47 (min:66.3; max:100). Hand ray resection is a rare procedure in pediatric age and usually difficult for patients and parents to accept. However, it is a useful and safe technique that allows for an improvement in overall hand function and psychosocial readaptation in specific and selected cases. Level of evidence: Level of evidence IV - case series.

Neonatal upper limb fractures - a narrative overview of the literature.

The aim of this paper is to review the topic of neonatal fractures of the upper limb, describing the different types of fractures focusing on the etiology, epidemiology, risk factors, clinical approach, diagnosis, treatment and prognosis of these injuries. We included all types of research studies, both experimental and observational, published in English, French, Portuguese and Spanish. The information was obtained using the keywords neonatal upper limb fracture, clavicle fracture or humerus fracture from the following resources: MEDLINE database, Embase® database and LILACS database. Other resources such as hand searches of the references of retrieved literature and authoritative texts, personal and hospital libraries searching for texts on upper limb neonatal fractures, discussions with experts in the field of upper limb neonatal fractures and personal experience, were also considered for the completion of the article.Neonatal fractures of the upper limb are consensually considered to have a good prognosis and no long-term sequelae. Conservative treatment is the option in the vast majority of the fractures and is associated with excellent results, with good healing, full range of motion, adequate remodeling without obvious deformity, neurologic impairment or functional implications.

Applications of propolis encapsulation in food products.

Propolis has beneficial health properties attributed to of phenolic compounds. However, its application is limited. Thus, encapsulation protects the bioactive compounds of propolis from degradation, allowing their release under controlled and specific conditions and increasing their solubility. In addition to protecting flavonoids, encapsulation also minimises the undesirable characteristics of propolis, such as strong odour. We brought attention to the high antioxidant and antimicrobial activities of encapsulated propolis, and its maintained biological activity enables more uses in different areas. Encapsulated propolis can be applied in food products as an ingredient. This review describes recent advances in improving the bioactivity of propolis extracts by using encapsulation techniques, and biopolymer research strategies, focusing on applications in food products. Encapsulated propolis has a promising market perspective due to the industrial and scientific-technological advancement, the increase in the amount of research, the improvement of propolis extraction techniques, and the need of consumers for innovative products.

Encapsulation of propolis extract in ovalbumin protein particles: characterization and in vitro digestion.

The encapsulation of propolis has shown promising results for the protection of bioactive compounds, local and gradual release and masking the astringent taste. Ovoalbumin is a protein of animal origin found in large amounts in egg whites, which has good properties as a wall material for particles.The objective of this study was to microencapsulate propolis by spray drying. The best condition for microencapsulation was achieved with 4% ovalbumin at 120 °C, where there was the greatest encapsulation efficiency (88.20%) and spherical shape. However, the increase of ovalbumin concentration resulted lower yields (< 52%). As for the scanning electron microscopy (SEM), the increase of ovalbumin concentration caused an increase of the size with average diameter and formation of spherical microcapsules. The phenolic compounds were already released in the gastric fluid condition (stomach).

Thumb Duplication Surgical Treatment: Outcomes and Results.

Aim: This study aims to evaluate functional and esthetic outcomes of thumb duplication correction in pediatric age. Methods: Retrospective study including all pediatric patients with thumb duplication undergoing surgical treatment between 2012 and 2017. We analyzed demographic data, surgical technique, and surgical outcomes considering Tada, Horii, and Tien scores, according to the following parameters: active mobility of the metacarpophalangeal and interphalangeal joints, stability, alignment, and family's opinion about cosmetic and function of the thumb. The Wassel-Flatt classification was used to classify the duplicated thumbs. Results: A total of 11 patients were included, predominantly male (ratio 1.8:1), with a median age at time of surgery of 19[10-26] months and a median follow-up time after surgery of 23 [3-63] months. The Wassel- Flatt type IV thumb was the most frequent (73%). The postoperative evaluation revealed that 82% of patients had good results in Tada score, 73% had good results in Horii score, and all patients showed good results in Tien score. We found a relation between lower age and fair postoperative alignment (P = .047) and between fair postoperative alignment and fair final Tada (P = .022), Horii (P = .006), and Tien (P = .009) scores. Conclusions: Excision and reconstruction procedures are good options in the treatment of thumb duplication providing good clinical results, with excellent parent satisfaction. Timing of surgery is important for favorable esthetic outcomes, while angular deformity is a determining factor that for postoperative dissatisfaction.

Rosaceae rubus rosifolius smith: nutritional, bioactive and antioxidant potential of unconventional fruit.

Rubus is an economically important fruit, highly valued for its taste and medicinal properties. Itis estimated that there are between 400 and 700 species, but many of them are still unknown to the general population. There is a little information in the literature about the physicochemical and bioactive composition, as well as the antioxidant activity of these fruit, which is why this research was carried out. The fruits showed lipids (7.42%), ash (0.27%), dietary protein (11.54%), fiber (23.72%), carbohydrates (59.18%), low acidity, and good °Brix. Regarding bioactive compounds, good concentrations of phenolic compounds (289.4 (mg. g-1 EAG), flavonoids (155 mg100g-1), anthocyanins (120.11 mg cyanidin-3-glucoside 100 g-1), and phytoene (517.3 mg100g-1) were found. The wild strawberry showed a good antioxidant capacity, which was confirmed by different analytical methods. Because of the results of this research, it is concluded that this fruit has nutritional and phytochemical potential that should be included in the human diet, and its consumption should therefore be encouraged.

Hyperthyroidism in McCune-Albright Syndrome - a case report.

OBJECTIVES: We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). CASE PRESENTATION: We report the case of a 13-year-old male child who presented with a café-au-lait macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7 Y and there was a progressive improvement in pain complaints 8 M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12 Y + 5 M. CONCLUSIONS: This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.

Flexor Tendon Injuries in the Pediatric Population.

Flexor tendon injuries are rare in children, posing specific diagnostic and therapeutic challenges. This study aims to describe epidemiologic characteristics of flexor tendon injuries in children and evaluate the outcomes of surgical treatment. We conducted a retrospective study of patients with acute traumatic flexor tendon injuries treated between 2012 and 2019. We analyzed demographics, lesion mechanism, surgical technique, clinical results, complications, and secondary surgical procedures. Functional results were assessed through the Total Active Mobilization score. Twenty patients were included (n=34 tendons), with median follow-up of 7 months (range, 3-34 months) and median age at time of surgery of 13 years (range, 1-17 years). Male sex was predominant (n=16). The most prevalent injury mechanism was a cut (n=17), mostly affecting the 4th digit (n=10) and Verdan's zone II (n=13). Modified Kessler was the suture technique most commonly used (n=31), and polypropylene was the preferred suture material (n=19). All patients were immobilized with a splint for a median time of 4 weeks (range, 1-7 weeks). According to the Total Active Mobilization score, 15 patients reached a score greater than 75%, independently of age (P>.05). Stiffness was the main complication observed. Complications were identified in 37% of patients and were most common in those older than age 10 years (P>.05) and those with zone II lesions (P>.05). Four patients (20%) needed a second surgical intervention. Flexor tendon injuries in children are relatively uncommon and prevail in the male sex, similarly to the adult population. The principal complication observed was stiffness, which was more prevalent in children older than age 10 years, although without relevant functional implications, as surgical treatment enabled good or excellent outcomes in 75% of patients. [Orthopedics. 2023;46(2):82-85.].

Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant.

BACKGROUND: Cognitive dysfunction is part of the broad spectrum of clinical manifestations in older untreated hereditary transthyretin amyloidosis patients with peripheral polyneuropathy. OBJECTIVE: The objective of this study is to systematically explore cognitive dysfunction in ATTRV30M amyloidosis patients whose disease course was modified by liver transplant (LT). METHODS: A series of 269 carriers of TTRVal30Met mutation treated with LT underwent a neuropsychological assessment. Clinical charts were reviewed to identify focal neurological episodes (FNEs), cognitive complaints and laboratory results. Chi-square and Mann-Whitney tests explored potential predictors of cognitive dysfunction. RESULTS: Cognitive dysfunction was identified in 35 patients (13%)-14 (5%) had mild and 21 (8%) had moderate dysfunction. In comparison to normal cognition, both mild and moderate cognitive dysfunction patients had older age, higher mPND score and elevated NT-proBNP and Cystatin C values. Mild cognitive dysfunction was associated with longer disease duration and history of FNEs, whereas moderate dysfunction was related to older age at disease onset and more cognitive complaints and depression symptoms. CONCLUSIONS: Consistent with the natural history of the disease, older age and higher severity of the disease are significantly associated and potentially predictors of cognitive dysfunction in ATTRV30M patients treated with LT. The level of cognitive dysfunction may depend on some clinical variables.

Operative Pediatric Hand Trauma.

This study aims to describe the epidemiology of hand injuries in pediatric patients undergoing surgical treatment. A retrospective analysis of patients with traumatic hand injuries surgically treated over a 7-year period. A total of 155 patients were included. Fracture was the most common injury type (74.8%), most of which were open (54.3%). Incidence of articular fractures increased with age. The predominant mechanism of injury before age 10 was crush. In toddlers, only central digits were affected. Good functional results were achieved (Quick-DASH 1.37 ± 4.90). The incidence of hand injuries requiring surgery increased with age. The mechanism and segment affected varied with age groups. Although good functional results are expected, complications may occur 33% and secondary surgical procedures in 7.7%.

Pilot Study and Preliminary Results of Biodegradable Intramedullary Nailing of Forearm Fractures in Children.

(1) Background: Diaphyseal forearm fractures are a common injury in children and adolescents. When operative treatment is needed, elastic stable intramedullary nailing (ESIN) is the most common surgical procedure. Although there is no clear evidence, hardware removal after fracture healing is performed in many patients. Often, the primary minimal invasive incision needs to be widened during implant removal. In order to decrease the burden of care of pediatric fractures, significant efforts were made to develop biodegradable implants, which make hardware removal unnecessary. Our study will conduct an observational trial on the clinical use of the Activa IM-Nail™ in forearm fractures in children between 3 and 13 years of age. The objective of this trial is to evaluate the risks and benefits of the Activa IM-Nail™. Among other objectives, the rate of refracture will be determined. (2) Methods: An international Europe-based, multicenter, prospective, single-arm, open-label study will be performed to ascertain the rate of refracture and to determine the subjective benefits of Activa IM-Nail™ for patients, parents and other caregivers. The study will include clinical follow-up including early post-operative complication, radiographs until bony healing and an additional follow-up after 1 year. At this stage, preliminary results and early complications on 76 patients are analyzed in this study and presented. (3) Results: As of April 2022, 76 patients were enrolled as per study protocol. There were 31 girls (40.8%) and 45 boys (59.2%). The mean age at the time of inclusion was 8.9 years (±2.4 years). The mean operation time was 58.9 ± 22.9 min (range, 15-119 min). The mean follow-up time was 8.9 ± 5.1 months (range, 0.2-18.6). Up to now, one refracture has occurred in one child falling from a height of about one meter 7 months after index surgery (1/76; 1.3%). (4) Conclusion: The research project assesses the safety and effectiveness of Activa IM-Nails™ as part of the surgical treatment of dislocated forearm fractures in children in the context of a PMCF study. The use of Activa IM-Nails™ with regard to various objectives, including postoperative complications and refracture rate, seems to be equal to the standard titan ESIN procedure compared to the literature. Preliminary results are encouraging and are made available.

Madelung Deformity - Esthetic and Functional Outcomes from the Surgical Treatment with Distal Radial Dome Osteotomy and Vickers Ligament Section.

Objective The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children. Method This is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Demographic data, surgical technique, clinical and radiographic outcomes were analyzed. Pre and postoperative radiographic evaluation consisted of ulnar tilt, lunate subsidence lunate fossa angle, and palmar carpal displacement measurements. The postoperative clinical evaluation consisted of ranges of motion of the wrist, visual analog scale (VAS) and Disabilities of the Arm, Shoulder and Hand (DASH) score. Results Four patients were included, two with idiopathic Madelung deformity and two with bone dysplasia. All patients were females and presented bilateral disease. Six wrists were operated on. The median age at surgery was 15.5 years old, and the median postoperative follow-up time was of 37.5 months. The postoperative radiographic analysis revealed an average correction of 8.8 ± 7.5° for ulnar tilt, 3.0 ± 3.9 mm for lunate subsidence 8.2 ± 6.6° for lunate fossa angle, and 4.7 ± 2.6 mm for palmar carpal displacement. Average postoperative ranges of motion of the wrist joint were 75.8 ± 3.4° for flexion, 62.5 ± 14.1° for extension, 25.7 ± 2.9° for radial deviation, 40.0 ± 2.9° for ulnar deviation, 88.3 ± 2.4° for pronation, and 82.5 ± 2.5° for supination. The median VAS was 1 for residual pain, 0 for functional deficit, 0 for esthetic impairment, and 10 for recommending the surgical procedure. The median DASH score was 0. Conclusion Madelung deformity treatment using dome osteotomy of the distal radius and Vickers ligament section results in excellent esthetic and functional outcomes.

Madelung Deformity - Esthetic and Functional Outcomes from the Surgical Treatment with Distal Radial Dome Osteotomy and Vickers Ligament Section / Deformidade de Madelung - Resultado estético e funcional do tratamento cirúrgico com osteotomia em cúpula do rádio distal e secção do ligamento de Vickers

Abstract Objective The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children. MethodThis is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Demographic data, surgical technique, clinical and radiographic outcomes were analyzed. Pre and postoperative radiographic evaluation consisted of ulnar tilt, lunate subsidence lunate fossa angle, and palmar carpal displacement measurements. The postoperative clinical evaluation consisted of ranges of motion of the wrist, visual analog scale (VAS) and Disabilities of the Arm, Shoulder and Hand (DASH) score. Results Four patients were included, two with idiopathic Madelung deformity and two with bone dysplasia. All patients were females and presented bilateral disease. Six wrists were operated on. The median age at surgery was 15.5 years old, and the median postoperative follow-up time was of 37.5 months. The postoperative radiographic analysis revealed an average correction of 8.8 ± 7.5° for ulnar tilt, 3.0 ± 3.9 mm for lunate subsidence 8.2 ± 6.6° for lunate fossa angle, and 4.7 ± 2.6 mm for palmar carpal displacement. Average postoperative ranges of motion of the wrist joint were 75.8 ± 3.4° for flexion, 62.5 ± 14.1° for extension, 25.7 ± 2.9° for radial deviation, 40.0 ± 2.9° for ulnar deviation, 88.3 ± 2.4° for pronation, and 82.5 ± 2.5° for supination. The median VAS was 1 for residual pain, 0 for functional deficit, 0 for esthetic impairment, and 10 for recommending the surgical procedure. The median DASH score was 0. Conclusion Madelung deformity treatment using dome osteotomy of the distal radius and Vickers ligament section results in excellent esthetic and functional outcomes.

Resumo Objetivo Avaliar o resultado estético e funcional do tratamento cirúrgico da deformidade de Madelung em idade pediátrica. MétodoEstudo retrospectivo dos pacientes com deformidade de Madelung em idade pediátrica tratados cirurgicamente através de osteotomia em cúpula do rádio distal e secção do ligamento de Vickers entre 2015 e 2018. Foram incluídos doentes com tempo de seguimento pós-operatório mínimo de 12 meses. Foram analisados dados demográficos, técnica cirúrgica, resultados clínicos e radiográficos. A avaliação radiográfica pré e pós-operatória consistiu na medição da inclinação ulnar, do afundamento semilunar, do ângulo da fossa semilunar e do desvio palmar do carpo. A avaliação clínica pós-operatória consistiu na medição das amplitudes articulares do punho, escala visual analógica (EVA) e score Disabilities of the Arm, Shoulder and Hand (DASH). Resultados Foram incluídos quatro pacientes, dois com Madelung idiopática e dois com displasia óssea, todos do sexo feminino e com doença bilateral. Foram operados 6 punhos, a idade mediana à data de cirurgia foi 15,5 anos, e o tempo mediano de seguimento pós-operatório foi de 37,5 meses. Na análise radiográfica pós-operatória, verificou-se uma correção média de 8,8 ± 7,5° da inclinação ulnar, de 3 ± 3,9 mm do afundamento semilunar, de 8,2 ± 6,6° do ângulo da fossa semilunar e de 4,7 ± 2,6 mm do desvio palmar do carpo. Na avaliação da amplitude articular média pós-operatória, registrou-se uma flexão de 75,8 ± 3,4°; extensão de 62,5 ± 14,1°; desvio radial de 25,7 ± 2,9°; desvio cubital de 40,0 ± 2,9; pronação de 88,3 ± 2,4°; supinação de 82,5 ± 2,5°. Registou-se EVA mediana para dor residual = 1, défice funcional = 0, prejuízo estético = 0, e recomendação de procedimento cirúrgico = 10. A mediana do score DASH foi 0. Conclusão O tratamento da deformidade de Madelung através da osteotomia em cúpula do rádio distal e secção do ligamento de Vickers permite obter um excelente resultado estético e funcional.

Tibial tubercle avulsion fractures in adolescents: impact on function and quality of life.

The objective of the study was to assess functional outcomes and quality of life of patients treated for tibial tubercle avulsion fractures (TTAFs). Retrospective study of patients under 18 years of age treated from June 2011 to May 2018. Demographic data included age, gender, mechanism of injury, side, fracture classification, associated injuries, predisposing factors, and type of treatment. Clinical results included knee range of motion, pain, return to sports, overall satisfaction, functional outcomes, and complications. At final follow-up, Tegner Lysholm Knee Scoring Scale, and Kidscreen-10 were applied. Ten patients were included, all males, with a median age of 15 years. Mechanism of injury: football (three patients), basketball (two patients), running (two patients), handball (one patient), gymnastics (one patient), and fall (one patient). Nine were treated surgically with reduction and fixation with cannulated screws or Kirschner wires, plus treatment of associated injuries (three patellar tendon avulsions, one contralateral proximal tibia epiphyseal fracture, and two prophylactic fasciotomies). One patient developed mild recurvatum and two presented minor decreased knee flexion. Eight patients returned to their previous level of sports activity. Median Tegner Lysholm Knee Score was 100/100 and Kidscreen-10 was 50/50. With appropriate treatment, nearly 100% of TTAFs have good functional outcomes and low impact on quality of life.

Competências do nutricionista para a Atenção Primária à Saúde / Competencies of nutritionists in the Primary Health Care

Resumo A Educação Baseada em Competências propõe o uso de um currículo derivado da construção de um perfil de competências, o que se torna norteador para a formação acadêmica de uma determinada profissão. As Diretrizes Curriculares Nacionais (DCN) no Brasil têm apontado para a construção de currículos com foco em competências. Buscando contribuir com esse debate, o objetivo deste estudo foi construir um perfil de competências para os nutricionistas na Atenção Primária à Saúde (APS) a partir da revisão sobre as competências gerais dos profissionais de saúde nesse âmbito de atenção. Trata-se de estudo qualitativo e exploratório, com seleção de consensos e estudos sobre a formação profissional, incluindo diretrizes e resoluções; o material selecionado foi submetido à análise temática. As categorias de análise encontradas foram assim agrupadas: competências relativas ao sistema de saúde e ao modelo de atenção; competências relativas à atenção à saúde; competências humanísticas e culturais; competências sociais e de comunicação; e competências técnicas e metodológicas. Os resultados permitiram traçar um perfil de competências de acordo com os objetivos pretendidos, podendo colaborar com a definição de diretrizes para a formação dos nutricionistas, com foco na APS.

Abstract Competency-Based Education proposes the use of a curriculum derived from the construction of a profile of competencies, which becomes a guide for the academic formation of a particular profession. The National Curriculum Guidelines (DCN) in Brazil have pointed to the construction of curricula with a focus on competencies. Seeking to contribute to this debate, this study aimed to build a profile of competencies for nutritionists in Primary Health Care (PHC) based on a review of the general competencies of health professionals in this area of care. This is a qualitative and exploratory study, with selection of consensus and studies on professional training, including guidelines and resolutions; the selected material was submitted to thematic analysis. The analysis categories found were grouped as follows: competencies related to the health system and the care model; competencies related to health care; humanistic and cultural competencies; social and communication skills; and technical and methodological skills. The results made it possible to draw a profile of competencies according to the intended objectives, being able to collaborate with the definition of guidelines for the training of nutritionists, with a focus on PHC.

Feixe de intervenções na manutenção do cateter venoso central: saberes e práticas de enfermeiros numa unidade de cuidados intensivos / Bundle of interventions in central venous catheter maintenance: knowledge and practices of nurses in an intensive care unit

O uso de cateter venoso central (CVC) e a sua manutenção associa-se a infeções, locais ou sistémicas, aumentando a probabilidade de infeção, principalmente, por agentes multirresistentes. As infeções associadas ao CVC são muito frequentes e responsáveis pelo aumento de custos para a instituição com maior tempo de internamento e com aumento de taxas de morbimortalidade, nomeadamente em utentes que se encontram nas UCI. O objetivo principal deste estudo foi analisar a associação entre os saberes e as práticas dos enfermeiros relativos ao feixe de intervenções na manutenção do CVC numa UCI de adultos polivalente de um hospital universitário do Norte de Portugal. O método adotado foi o quantitativo, tendo-se desenhado um estudo descritivo-correlacional, com uma amostra de voluntários e como instrumentos de recolha de dados utilizou-se o questionário e a observação. A amostra, composta por 42 enfermeiros, é predominantemente do sexo feminino (76,2%). O grupo etário mais representado foi dos 31-40 anos (45,2%) e a maioria é casado(a)/união de facto (57,1%). Predominam os enfermeiros licenciados (73,8%), com especialidade (54;8%), sendo a Enfermagem Médico-Cirúrgica (91,3%) a especialidade mais registada. Os resultados demonstraram que a formação sobre o feixe de intervenções na manutenção do CVC foi reportada por 21,4% dos enfermeiros. Destes, 55,6% frequentou a formação em serviço de implementação da Bundle. Relativamente aos saberes dos enfermeiros, os resultados demonstraram que 100% reconhece a importância de: avaliar diariamente a necessidade de manter o CVC e identificar o motivo; higienizar as mãos antes de manusear o CVC; realizar tratamento da ferida na periodicidade adequada utilizando técnica asséptica. Com valores inferiores, 83,3% reconhece a fricção com solução antisséptica com base alcoólica (SABA) como técnica na higienização das mãos. Ainda em relação aos saberes, os resultados revelaram que os enfermeiros reconhecem a importância de: garantir o orifício de inserção limpo e sem sangue; utilizar máscara cirúrgica, luvas esterilizadas, campo esterilizado de suporte para material de pensos; utilizar cloro-hexidina a 2% com álcool na antissepsia da pele e datar o penso; bem como proceder à substituição dos sistemas de perfusão, datando a sua substituição. Face às práticas observou-se uma adesão de 69,0% à utilização da fricção com SABA. 97,6% utilizam cloro-hexidina a 2% com álcool, para a descontaminação das conexões de manuseamento e dos pontos de acesso dos sistemas e prolongadores. 100% da amostra identificou o(s) motivo(s) para a realização do tratamento da ferida e procede ao seu tratamento dentro da periodicidade adequada e com técnica asséptica cirúrgica. Na observação da prática, e à semelhança dos resultados dos saberes, os enfermeiros também garantem o orifício de inserção limpo e sem sangue, utilizam máscara cirúrgica e realizam os restantes procedimentos. Após a análise, não se verificou uma associação estatisticamente significativa entre as práticas e os saberes dos enfermeiros relativos ao feixe de intervenções na manutenção do CVC. Conclui-se que os enfermeiros possuem elevado conhecimento do feixe de intervenções na manutenção e manipulação do CVC e que na sua prática profissional quotidiana recorrem à sua implementação.

The use of central venous catheter (CVC) and its maintenance is associated with infections, local or systemic, increasing the probability of infection, mainly by multidrug-resistant agents. Infections associated with CVC are very frequent and responsible for the increase in costs for the institution with longer hospital stays and increase morbidity and mortality rates, particularly in users who are in the ICU. The main objective of this study was to analyze the association between nurses' knowledge and practices regarding the range of interventions in CVC maintenance in a multipurpose adult ICU of a university hospital in Northern Portugal. The method adopted was the quantitative one, having been designed a descriptive-correlational study, with a sample of volunteers and as instruments of data collection it was used the questionnaire and the observation. The sample, consisting of 42 nurses, is predominantly female (76.2%). The most represented age group was between 31-40 years old (45.2%) and the majority is married/covenant (57.1%). There is a predominance of licensed nurses (73.8%), with a specialty (54.8%), with Medical-Surgical Nursing (91.3%) being the most registered specialty. The results showed that training on the range of interventions in CVC maintenance was reported by 21.4% of nurses. Of these, 55.6% attended Bundle implementation in-service training. Regarding the nurses' knowledge, the results showed that 100% recognize the importance of: daily assessing the need to maintain the CVC and identifying the reason; sanitize your hands before handling the CVC; perform wound treatment at the appropriate frequency using aseptic technique. With lower values, 83.3% recognize rubbing with an alcohol-based solution (SABA) as a technique for hand hygiene. Still in relation to knowledge, the results revealed that nurses recognize the importance of: ensuring the insertion hole is clean and free of blood; use surgical mask, sterile gloves, sterile field support for dressing material; use 2% chlorhexidine with alcohol for skin antisepsis and date the dressing; as well as proceeding with the replacement of the infusion systems, dating their replacement. In view of the practices, there was an adherence of 69.0% to the use of rubbing with an alcoholic-based solution (SABA). 97.6% use 2% chlorhexidine, with alcohol for the decontamination of handling connections and access points of systems and extensions. 100% of the sample identified the reason(s) for performing the treatment of the wound and proceeded with its treatment within the proper frequency and with aseptic surgical technique. In observing the practice, and similarly to the results of knowledge, nurses also ensure the insertion hole is clean and free of blood, use a surgical mask and perform the remaining procedures. After the analysis, there was no statistically significant association between nurses' practices and knowledge regarding the range of interventions in CVC maintenance. It is concluded that nurses have a high knowledge of the range of interventions in the maintenance and handling of the CVC and that in their daily professional practice they resort to its implementation.

A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement.

A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 ( BSCL2) , which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.