Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.

Studying a patient with Pompe disease (PD) is like opening Pandora's box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rare disease. In recent years, scientific interest in this disease has been growing more and more, but still no symptom is recognized as key to a correct diagnosis of it, nor is there any specific disease marker to date. New diagnostic/therapeutic proposals on disease allow for the diffusion of knowledge of this pathology for timely diagnosis of the patient. Due to unawareness and difficulty in diagnosis, many adults with PD are diagnosed with great delay. In this article, we report and discuss current knowledge of PD and provide new data from work conducted on a cohort of 2934 Italian subjects recruited in recent years. A genetic analysis of the GAA gene was performed on patients with significant clinical signs and pathological enzyme activity to define the genetic profile of subjects. This identified 39 symptomatic PD subjects with low acid alpha-glucosidase enzyme activity and the presence of two causative mutations in GAA gene regions. Furthermore, 22 subjects with genetic variants of uncertain significance (GVUS) were identified.

OBTAINING INFORMED CONSENT TO MEDICAL PROCEDURES.

Informed patient consent to a medical procedure is a prerequisite for the treatment process to be legal. Actions taken for the good of a person are regulated by the Constitution of the Republic of Poland, international documents, and statutory law. The provisions of the Act on the Professions of Physician and Dentist or the Act on the Professions of Nurse and Midwife are significant here as well. Moreover, the issues of respect for the patient are tackled by the Act on the Patient's Rights and the Patient's Rights Ombudsman. As prescribed in the Medical Code of Ethics, the physician's mission is to protect human life and health, prevent diseases, treat the ill. It is a legal and deontological tool allowing selection of a medical procedure for the patient. Both law and medicine are predominated by the view that any action performed by the physician without the patient's consent is unlawful even if performed for a therapeutic purpose. The border of these two scientific fields is where a clash occurs between legally protected interests: life and health on the one hand, and the right to autonomy on the other. The provisions of Art. 192 of the Polish Penal Code protect the patient's right to self-determination in the scope of agreement to or rejection of therapeutic procedures, also in situations where their life or health are threatened. The paper aims to analyze possible issues related to consents to treatment of adults capable of expressing informed consents.

Mapping evidence of mobile health technologies for disease diagnosis and treatment support by health workers in sub-Saharan Africa: a scoping review.

BACKGROUND: The rapid growth of mobile technology has given rise to the development of mobile health (mHealth) applications aimed at treating and preventing a wide range of health conditions. However, evidence on the use of mHealth in high disease burdened settings such as sub-Sharan Africa is not clear. Given this, we systematically mapped evidence on mHealth for disease diagnosis and treatment support by health workers in sub-Saharan Africa. METHODS: We conducted a scoping review study guided by the Arksey and O'Malley's framework, Levac et al. recommendations, and Joanna Briggs Institute guidelines. We thoroughly searched the following databases: MEDLINE and CINAHL with full text via EBSCOhost; PubMed; Science Direct and Google Scholar for relevant articles from the inception of mHealth technology to April 2020. Two reviewers independently screened abstracts and full-text articles using the eligibility criteria as reference. This study employed the mixed methods appraisal tool version 2018 to assess the methodological quality of the included studies. RESULTS: Out of the 798 articles identified, only 12 published articles presented evidence on the availability and use of mHealth for disease diagnosis and treatment support by health workers in SSA since 2010. Of the 12 studies, four studies were conducted in Kenya; two in Malawi; two in Nigeria; one in South Africa; one in Zimbabwe; one in Mozambique, and one in Lesotho. Out of the 12 studies, one reported the use of mHealth for diseases diagnosis; three reported the use of mHealth to manage HIV; two on the management of HIV/TB; two on the treatment of malaria; one each on the management of hypertension; cervical cancer; and three were not specific on any disease condition. All the 12 included studies underwent methodological quality appraisal with a scored between 70 and 100%. CONCLUSIONS: The study shows that there is limited research on the availability and use of mHealth by health workers for disease diagnosis and treatment support in sub-Saharan Africa. We, therefore, recommend primary studies focusing on the use of mHealth by health workers for disease diagnosis and treatment support in sub-Saharan Africa.

[Incidence, therapy, and prognosis of prostate cancer in Baden-Württemberg: analysis based on cancer registry data]. / Inzidenz, Behandlung und Prognose des Prostatakarzinoms in Baden-Württemberg: Analyse anhand von Krebsregisterdaten.

BACKGROUND: Prostate cancer (PCa) is the most common solid tumor in men in Germany. Collection of epidemiological and clinical data has been centralized for several years due to legal requirements via the state cancer registries. Thus, the reporting of diagnosis, therapy, and progression of cancer is obligatory in Germany. These data needs to be processed based on the questions of the treating physicians. OBJECTIVES: Intention of this work was to present the development of new cases, disease stages, treatment procedures and prognosis of PCa in Baden-Württemberg (BW). METHODS: For this purpose, data of the cancer registry BW regarding patients with PCa first diagnosed between 2013 and 2021 were evaluated. The evaluation was performed using descriptive statistics, Χ2 test and Kaplan-Meier analysis. RESULTS: A total of 84,347 new diagnoses of PCa were reported. Clinical stage was present in 55.3% of patients. Assignment by International Society of Urological Pathology (ISUP) groups was present in 75.7%. A steady increase in primary diagnosis was evident through 2019. The proportion of primary metastatic disease decreased (2013: 19.6% vs. 2021: 12.0%), and the proportion of localized tumors increased (2013: 65.5% vs. 2021: 77.1%). Radical prostatectomy (RP) dominated the treatment of localized tumors with a mean of 60.1%. The proportion of robot-assisted surgery increased from 23.7% (2013) to 60.8% (2021) with a decrease in the R1 rate from 34.8 to 26.2%. Progression-free survival correlated closely with tumor stage and ISUP group. CONCLUSION: An increase in PCa cases and a decrease of advanced tumors were observed. Treatment was mostly surgical in localized stages, with increasing proportion of robotic-assisted RP. Early diagnosis and treatment are critical for long-term prognosis.

Randomized study for a novel elbow joint fixation device on postoperative complications in patients undergoing percutaneous coronary diagnostic or therapeutic procedures through the brachial artery.

Brachial artery access for coronary diagnostic or therapeutic procedures is associated with a greater risk of vascular complications. To determine whether 3D printing of a novel elbow joint fixation device could reduce postoperative complications after percutaneous coronary diagnostic or therapeutic procedures through the brachial artery. Patients who underwent percutaneous coronary diagnostic or therapeutic procedures by brachial access were randomly assigned to receive either a 3D-printed elbow joint fixation device (brace group) or traditional compression (control group) from March 2023 to December 2023. The severity of puncture site-related discomfort at 24 h postsurgery was significantly lower in the brace group (P = 0.014). Similarly, the upper arm calibration rate at 24 h postsurgery was significantly lower in the brace group [0.024 (0.019-0.046) vs. 0.077 (0.038-0.103), P < 0.001], as was the forearm calibration rate [0.026 (0.024-0.049) vs. 0.050 (0.023-0.091), P = 0.007]. The brace group had a significantly lower area of subcutaneous hemorrhage at 24 h postsurgery [0.255 (0-1.00) vs. 1 (0.25-1.75) cm2]. In patients who underwent percutaneous coronary diagnostic or therapeutic procedures by brachial access after manual compression hemostasis, the novel elbow joint fixation device was effective at reducing puncture site-related discomfort, alleviating the degree of swelling, and minimizing the subcutaneous bleeding area. Additionally, no significant complications were observed.Trial registration: China Clinical Trial Registration on 01/03/2023 (ChiCTR2300068791).

Bridging the procedures skill gap from medical school to residency: a simulation-based mastery learning curriculum.

BACKGROUND: The transition from medical student to intern is a recognized educational gap. To help address this, the Association of American Medical Colleges developed the Core Entrustable Professional Activities for entering residency. As these metrics outline expectations for all graduating students regardless of specialty, the described procedural expectations are appropriately basic. However, in procedure-heavy specialties such as emergency medicine, the ability to perform advanced procedures continues to contribute to the disconnect between undergraduate and graduate medical education. To prepare our graduating students for their internship in emergency medicine, we developed a simulation-based mastery learning curriculum housed within a specialty-specific program. Our overall goal was to develop the students' procedural competency for central venous catheter placement and endotracheal intubation before graduation from medical school. METHODS: Twenty-five students participated in a simulation-based mastery learning procedures curriculum for ultrasound-guided internal jugular central venous catheter placement and endotracheal intubation. Students underwent baseline assessment, deliberate practice, and post-test assessments. Both the baseline and post-test assessments used the same internally developed checklists with pre-established minimum passing scores. RESULTS: Despite completing an emergency medicine rotation and a critical care rotation, none of the students met the competency standard during their baseline assessments. All twenty-five students demonstrated competency on both procedures by the end of the curriculum. A second post-test was required to demonstrate achievement of the central venous catheter and endotracheal intubation minimum passing scores by 16% and 28% of students, respectively. CONCLUSIONS: Students demonstrated procedural competency for central venous catheter placement and endotracheal intubation by engaging in simulation-based mastery learning procedures curriculum as they completed their medical school training. With three instructional hours, students were able to achieve basic procedural competence for two common, high-risk procedures they will need to perform during emergency medicine residency training.

Cancer and Pregnancy: A Comprehensive Review.

Cancer diagnosis and treatment in pregnant women is a challenging situation. A multidisciplinary network of specialists is required to guide both, the expecting mother and the unborn child through the diagnostic workup and the cytotoxic therapy, by balancing the respective risks and benefits. Tumor entity, stage, biology and gestational week at diagnosis determine the appropriate approach. As premature delivery emerged as one of the main risk factors for adverse long-term outcome of the progeny, it should be avoided, if reasonable from the oncological perspective. This article offers a comprehensive review with respect to the various aspects of cancer in pregnancy.

[Regulations from the German Federal Medical Chamber for specialization in urology: legal and occupational aspects]. / Die Musterweiterbildungsordnung für den Facharzt für Urologie: rechtliche und berufspolitische Aspekte.

The new regulations of the German Federal Medical Chamber for the specialization in urology have been published in November 2018 and can now be transferred into official regulations by the different Medical Chambers of the German Länder. The new concept consists of different subjects which are each subdivided into different levels of competence. Required numbers for procedures have been kept to a minimum as the emphasis is on everyday procedures of outpatient urology. The scope of urology is well represented and all subspecialities have been incorporated with their basic contents. Higher qualifications in certain subspecialities are available.

Primeros pasos en el intervencionismo. Lecciones de la práctica diaria / First steps in interventionism. Lessons from daily practice

Resumen Las características del paciente y la localización de la lesión diana pueden hacer más complejo un procedimiento intervencionista. Una adecuada formación basada en el conocimiento de los instrumentos, manejo de técnicas alternativas y complementos hacen que estos procedimientos sean efectivos y seguros. Destacaremos la planificación anticipada, los enfoques seguros, el papel de la integración y la discusión interdisciplinaria. Los elementos descritos aquí y la bibliografía adjunta pueden tomarse como una guía para comenzar una carrera en radiología intervencionista.

Abstract The characteristics of the patient and the location of the target lesion can make an interventional procedure more complex. An adequate training based on the knowledge of instruments, handling of alternative techniques and supplementary tools make these procedures effective and safe. We will emphasize advanced planning, safe approaches, the role of integration, and interdisciplinary discussion. The items described here and the accompanying bibliography can be taken as a guide to starting a career in interventional radiology.

This plant treats that illness? The hot-cold system and therapeutic procedures mediate medicinal plant use in San Miguel Tulancingo, Oaxaca, Mexico.

ETHNOPHARMACOLOGICAL RELEVANCE: Understanding the reasoning behind the choice of medicinal plants is relevant for both pharmacological and ethnobotanical quantitative studies. In this study, we analyze how the traditional medical system influences the choice of medicinal plants in a Mexican indigenous population. MATERIALS AND METHODS: The study area was San Miguel Tulancingo, Oaxaca, Mexico, and the studied people the Rru ngigua (or Chocholtecs), an Otomangue group with only a few hundred speakers remaining. Through in-depth and repeated interviews of four traditional healers and ethnobotanical collections, we identified, described and classified the medicinal plants, the nosological units, the therapeutic procedures and the reasoning behind medicinal plant and treatment choice. RESULTS: The hot-cold system, which considers illness to be a result of humoral imbalance, strongly influences treatment choice. "Hot" plants are used mainly to treat "cold" diseases, and vice versa. With some variation, plants are selected mainly for this hot-or-cold property, and the specific plant species is often not very relevant. In addition, many plants are associated with specific healing procedures, such as sweat baths. The procedures, in turn, may be used to treat various diseases. CONCLUSIONS: The study shows that the relationship between medicinal plants and treated diseases is complex and indirect in most cases. It is strongly influenced by the hot-cold concept and by therapeutic procedures.

Avaliação estética e condutas terapêuticas relacionadas aos principais perfis faciais / Aesthetic evaluation and therapeutic procedures related to main facial profiles

Introdução: A cirurgia ortognática para correções de deformidades dentofaciais proporciona uma face mais harmoniosa, funcional e estética. O objetivo desse estudo foi avaliar a percepção dos cirurgiões bucomaxilofaciais quanto à estética dos perfis faciais padrões I, II e III, relacionada ao sexo, etnia e às principais condutas terapêuticas. Métodos: Foram entrevistados 18 cirurgiões especialistas ou em formação em Cirurgia e Traumatologia Bucomaxilofacial, utilizando uma ficha clínica padronizada para avaliação estética e condutas terapêuticas de 12 imagens manipuladas simulando os perfis faciais, sexo e raças. Resultados: Quanto à estética, destacaram-se os perfis faciais tipo I, que apresentaram as melhores médias, enquanto os perfis faciais tipo III as menores; entretanto, não houve diferenças significativas entre as médias obtidas nos diferentes perfis faciais em relação ao sexo e à raça. As condutas terapêuticas foram homogêneas nos perfis II e III, com maiores percentuais para condutas clássicas no tratamento ortocirúrgico destas deformidades dentofaciais. Conclusão: O perfil facial I foi o considerado mais estético; então, houve influência do sexo e do tipo racial na estética para a amostra estudada. Os perfis faciais I foram os mais difíceis de avaliar quanto às condutas terapêuticas, o que resultou em grande variedade de opções em relação aos perfis II e III.

Introduction: Orthognathic surgery for correction of dentofacial deformities provides a more-symmetrical face, and functional and aesthetic benefits. The aim of this study was to evaluate the perception of buccomaxillofacial surgeons regarding the aesthetics of facial profiles patterns I, II, and III in related to sex, ethnicity, and the main therapeutic procedures. Methods: We interviewed 18 specialist surgeons or surgeons in training in buccomaxillofacial surgery by using a standardized clinical report form for aesthetic evaluation and therapeutic procedures of 12 manipulated images simulating facial profiles, sex, and race. Results: As for aesthetics, the highlights were that facial profile type I had the highest mean values, whereas facial profile type III had the lowest mean values. However, no significant differences were found between the mean values obtained in different facial profiles in relation to sex and race. The therapeutic procedures were homogeneous in profiles II and III, with higher percentages for classical procedures in the orthosurgical treatment of these dentofacial deformities. Conclusion: Facial profile I was considered more aesthetic. Furthermore, sex and racial type effects on aesthetics for the studied sample. Facial profiles I were the most difficult to assess as to therapeutic procedures, which resulted in a wide range of options in relation to profiles II and III.

Videoenteroscopia de balón único con prototipo Olympus: experiencia preliminar / Single-balloon videoenteroscopy olympus prototype: preliminary experience

Introducción: La enteroscopia de balón único es una técnica segura con alto alcance diagnóstico y terapéutico. Sin embargo, existe la dificultad para el manejo de accesorios mientras mayor es la profundidad de inserción. Objetivo: Mostrar ventajas en el diagnóstico y tratamiento de patología del intestino delgado utilizando un prototipo Olympus con canal 3,2 mm. Pacientes y métodos: 18 procedimientos en 13 pacientes. Diciembre 2009-Abril 2010. Se utilizó el prototipo Olympus X SIF 180 JY, con canal 3.2 mm y canal externo de irrigación. Se usaron accesorios endoscópicos de tecnología convencional para colonoscopia. Se registraron datos demográficos, indicaciones, vía de acceso, tiempo del procedimiento, profundidad de inserción, hallazgos y terapéutica. Resultados: 13 pacientes: 9 femenino, 4 masculino, edad promedio: 47,61 años. Indicaciones principales: sangrado digestivo oscuro (4), Diarrea crónica (4), síndrome de poliposis (3). Procedimientos. Vía anterógrada 13, retrógrada 4, combinado 1. Tiempo promedio: 40,46 minutos anterógrada, 36,35 minutos retrógrada. Profundidad de inserción: 201,53 cm anterógrada, 95 cm retrograda. Estudio normal: 46,15 % de los pacientes, hallazgos positivos: 53,84%. Terapéutica: 5 (27,7%): clips (2), inyección con adrenalina+argón (1), polipectomía (1), dilatación de estenosis (1). No hubo complicaciones. Conclusión: el prototipo Olympus X SIF 180 JY cuenta con canal terapéutico que permite la utilización de accesorios endoscópicos de tecnología convencional con menor dificultad de deslizamiento a mayor profundidad de inserción y canal de irrigación externo que mejora la visibilidad del campo. Ambas características favorecerían la realización de procedimientos terapéuticos.

Introduction: The single balloon enteroscopy is a safe technique with high diagnostic and therapeutic yield. However, there is the difficulty to manage attachments while the greater the depth of insertion. Objective: To show benefits in the diagnosis and treatment of diseases of the small bowel using a prototype Olympus with 3.2 mm channel. Patients and Methods: 18 procedures in 13 patients. December 2009-April 2010. We used the prototype Olympus SIF 180 JY X, with 3.2 mm channel and external canal irrigation. Standard endoscopic accessories were used for colonoscopy. Recorded demographic data, indications, route of access, procedure time, insertion depth, and therapeutic findings. Results: 13 patients: 9 women, 4 men, mean age: 47.61 years. Main indications: obscure gastrointestinal bleeding (4), chronic diarrhea (4), polyposis syndrome (3). Procedures. 13 antegrade, 4 retrograde, combined 1. Average Time: 40.46 minutes antegrade, retrograde 36.35 minutes. Depth of insertion: 201.53 cm antegrade, retrograde 95 cm. Study normal: 46.15% of patients, positive findings: 53.84%, with active bleeding lymphangioma (1), Dieulafoy lesion (1), celiac disease (1), Crohn's (1), polyposis (3). Therapeutics 5 (27.7%) clips (2), adrenaline injection + argon (1), polypectomy (1), dilatation of stenosis (1). There were no complications. Conclusion: The prototype Olympus SIF 180 JY X has therapeutic channel allows the use of standard endoscopic accessories more easily slip deeper insertion and external irrigation canal which enhances the visibility of the field. Both features favor the therapeutic procedures.

Cómo valorar e interpretar un artículo sobre tratamiento o procedimientos terapéuticos / How to evaluate and interpret an article about therapy or therapeutic procedures

Independent of the thematic area and design employed, it was verified that between 40 percent and 60 percent of published studies in surgical scientific journals are related with treatment or therapeutic procedures (TP). The aim of this manuscript is to present a synthesis of the key elements for proper writing, reading and assessment of articles related with treatment or TP, regardless of disciplinary area which has arisen in the investigation. Who writes a manuscript relating to treatment or PT, or who read an article of this type should require at least a clear, accurate and concise objective, on the stage of the research being conducted, the explicit mention of the design used with the respective methodological details inherent in this, and the endorsement and implementation of statistical tools and measures of association, or at least the numbers needed to calculate these values.

Independiente del área temática y diseño empleado, se ha verificado que entre el 40 por ciento y 60 por ciento de los estudios publicados en revistas científicas del ámbito quirúrgico corresponden a artículos de tratamiento o procedimientos terapéuticos (PT). El objetivo de este manuscrito es presentar una síntesis de los elementos fundamentales para una correcta escritura, lectura y valoración de este tipo de artículos, independiente del área disciplinaria en la que tenga origen la investigación realizada. Quien escribe un manuscrito relacionado con tratamiento o PT, o quien lee un artículo de este tipo debe exigir al menos un objetivo claro, preciso y conciso respecto del escenario de la investigación que se realizó; la mención explícita del diseño empleado con los respectivos detalles metodológicos inherentes a este; y la mención y ejecución de herramientas estadísticas y medidas de asociación, o al menos los números necesarios para poder calcular estos valores.

Infecções cervicais profundas: classificação em níveis de gravidade / Deep neck infections - classification in levels of severity

Introdução: As infecções dos espaços cervicais constituem quadros graves e que apresentam elevada mortalidade quando evoluem com complicações. Objetivo: Estabelecer um protocolo de graduação dos abscessos cervicais e organizar uma sequência para o atendimento desses pacientes. Método: Foi realizado um estudo retrospectivo de 150 pacientes portadores de abscesso cervical no qual se avaliou a impressão clínica, estado geral, condição respiratória, estado loco-regional, antibióticos utilizados e comorbidades. Após, organizou-se a classificação em níveis de gravidade. Resultados: A idade média foi de 31 anos e em 37% dos casos a origem era dentária. Na avaliação loco - regional em 67% o acometimento se estendia até nível I e II. Conforme a gravidade, os pacientes foram classificados da seguinte maneira: Grau I (46%), II (36%), III (15%) e IV (3%). Somente antibioticoterapia foi utilizada em 27% dos casos. A associação com cirurgia ocorreu em 73% Conclusão: A padronização da conduta terapêutica e a sua classificação em gravidade é fundamental para a sistematização do atendimento e diminuição da morbi-mortalidade.

Introduction: The cervical spaces infections compose severe pictures and result in a high degree of mortality when they evolve with complications. Objective: To set up a graduation protocol of the cervical abscesses and organize a sequence to treat these patients. Method: We carried out a retrospective study of 150 patients with cervical abscess in which we evaluated the clinical impression, general state, respiratory state, locoregional state, antibiotics used and comorbidity. Then we organized a classification with severity levels. Results: The mean age was of 31 years old and in 37% of the cases the origin was dental. In the locoregional evaluation in 67% the affection expanded up to level I and II. According to the severity, the patients were classified as follows: Level I (46%), II (36%), III (15%) and IV (3%). Only antibiotic therapy was used in 27% of the cases. The association with surgery occurred in 73% Conclusion: The therapeutic procedure standardization and its classification in severity is essential for the service systematization and reduction of morbimortality.