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1.
Arch. cardiol. Méx ; 94(2): 203-207, Apr.-Jun. 2024. graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1556917

Résumé

Abstract In the presence of the left ventricle hypertrophy (LVH), the differential diagnosis with hypertrophic cardiomyopathy (HCM) or some phenocopy must be always considered, which can be easily suspected when the hypertrophy is markedly asymmetric. However, when the hypertrophy is homogeneous, especially if the patient has concomitant hypertension, it may be a challenge to distinguish between hypertensive and HCM, although some clinical features may help us to suspect it. In addition, patients with HCM may present with exertional angina due to microcirculation involvement in the setting of the hypertrophy itself or dynamic obstruction in the left ventricular outflow tract, but in some cases, the presence of concomitant coronary artery disease must be suspected as the cause of angina, especially if the patient has an intermediate or high-risk probability of having ischemic heart disease. We present the case of a 46-year-old Afro-American man with poorly controlled hypertension who was found to have severe LVH, and who presented with symptoms of exertional angina during follow-up. We will review the clinical features that can help us in the differential diagnosis in this context.


Resumen Ante la presencia de hipertrofia del ventrículo izquierdo (HVI), siempre se debe considerar el diagnóstico diferencial con la miocardiopatía hipertrófica (MCH) o alguna fenocopia, que puede sospecharse fácilmente cuando la hipertrofia es marcadamente asimétrica. Además, los pacientes con MCH pueden presentar angina de esfuerzo debido a la afectación de la microcirculación en el contexto de la propia hipertrofia o si ésta condiciona obstrucción dinámica al tracto de salida del ventrículo izquierdo, pero en algunos casos debe sospecharse la presencia de enfermedad coronaria concomitante como causa de la angina, especialmente si el paciente tiene una probabilidad de riesgo intermedio o alto de padecer cardiopatía isquémica. Presentamos el caso de un varón de 46 años de afroamericana con hipertensión arterial mal controlada a quien se le detectó una HVI severa, y que durante el seguimiento presentó síntomas de angina de esfuerzo. Revisaremos las características clínicas que nos pueden ayudar en el diagnóstico diferencial en este contexto.

2.
Odovtos (En línea) ; 26(1): 14-20, Jan.-Apr. 2024. graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1558615

Résumé

Abstract Diabetes mellitus is a systemic condition potentially related to an increased risk of progression of various infections such as chronic osteomyelitis by accelerating the inflammatory process with bone tissue necrosis and suppuration. Therefore, if there is no proper management of these infections, they can be life-threatening as they spread to deeper spaces in the head and neck. We describe the case of a 52-year-old male patient with a history of diabetes mellitus and grade III osteoarthritis who was diagnosed with chronic suppurative osteomyelitis of the mandible. He underwent a multidisciplinary surgical intervention in which he underwent a hemimandibulectomy with immediate mandibular reconstruction. The present case highlights the importance of early and radical treatment of patients with chronic suppurative osteomyelitis of the mandible and systemic comorbidities. In addition, this case presents a review of diabetes mellitus and the risk of developing odontogenic infections and complications when invading deeper spaces in the head and neck. Therefore, in this population, careful planning is required for early surgical and pharmacological treatment.


Resumen La diabetes mellitus es una condición sistémica potencialmente relacionada con un mayor riesgo de progresión de diversas infecciones como la osteomielitis crónica al acelerar el proceso inflamatorio con necrosis del tejido óseo y supuración. Por lo tanto, si no hay un manejo adecuado de estas infecciones pueden ser potencialmente mortales al llegar a propagarse a espacios más profundos de la cabeza y cuello. Describimos el caso de un paciente varón de 52 años con antecedentes de diabetes mellitus y osteoartrosis grado III a quien se le diagnosticó de osteomielitis crónica supurativa mandibular. Se le realizó una intervención quirúrgica multidisciplinaria en la cual se le realizó una hemimandibulectomía con reconstrucción mandibular inmediata. El presente caso destaca la importancia del tratamiento temprano y radical de los pacientes con osteomielitis mandibular crónica supurativa y comorbilidades sistémicas. Además, en este caso se presenta una revisión sobre la diabetes mellitus y el riesgo de desarrollar infecciones odontogénicas y complicaciones al invadir espacios más profundos de la cabeza y cuello. Por lo tanto, en esta población se requiere de una planificación cuidadosa para realizar un tratamiento quirúrgico y farmacológico temprano.

3.
Rev. Ciênc. Plur ; 10 (1) 2024;10(1): 34798, 2024 abr. 30. ilus
Article Dans Portugais | LILACS, BBO | ID: biblio-1553615

Résumé

Introdução: A saúde bucal é um aspecto que não deve ser subestimado pelos pacientes, principalmente se considerar que as infecções odontogênicas podem levar a quadros graves, incluindo complicações cervicotorácicas, como Mediastinite e cervicofaciais, como Angina de Ludwig. Para tanto, é imprescindível que os profissionais da odontologia saibam reconhecer os principais sinais e sintomas dessas infecções, sua evolução, conhecer as complicações associadas e qual o manejo adequado. Objetivo: Assim, é objetivo deste trabalho, relatar, discutir um caso clínico de uma infecção odontogênica grave que acarretou em complicação cervical, com trajeto em direção ao mediastino, necessitando manejo multidisciplinar, e explorar os principais aspectos desse quadro e a conduta necessária, que exige, no mínimo, intervenção cirúrgica, antibioticoterapia e manutenção das vias aéreas. Relato de caso: O caso trata de um paciente com infecção odontogênica, iniciada como uma pericoronarite do dente 38 semieruptado, que evoluiu para a área cervical, demandando imediata drenagem nesta região pois encaminhava-se para uma mediastinite. Após a drenagem cervical e antibioticoterapia e, assim que houve redução do trismo, foi removido o dente 38, evoluindo para a cura.Conclusões:As infecções odontogênicas, principalmente as que acometem os espaços fasciais e cervicais profundos, são potencialmente graves e devem ter suas principais manifestações clínicas entre os domínios de conhecimento dos profissionais Bucomaxilofaciais, pois necessitam de diagnóstico preciso, manejo rápido e tratamento adequado e precoce, considerando a velocidade com que podem evoluir (AU).


Introduction: Oral healthis an aspect that should not be underestimated by patients, especially considering that dental infections can lead to serious symptoms, including cervicothoracic complications, such as Mediastinitis and cervicofacial complications, such as Ludwig's Angina. Therefore, it is essential that dental professionals know how to recognize the main signs and symptoms of these infections, their evolution, know the associated complications and appropriate management.Objective: Thus, this work aims to report and discuss a clinical case of a serious odontogenic infection that resulted in a cervical complication, with a path towards the mediastinum, requiring multidisciplinary management, and to explore the main aspects of this condition and the necessary conduct, which requires, at least, surgical intervention, antibiotic therapy and airway maintenance.Case report: The case concerns a patient with odontogenic infection, which began as pericoronitis of semi-erupted tooth 38, which progressed to the cervical area, requiring immediate drainage in this region as it was heading towards mediastinitis. After cervical drainage and antibiotic therapy and, as soon as the trismus was reduced, tooth 38 was removed, progressing towards healing.Conclusions: Odontogenic infections, especially those that affect the fascial and deep cervical spaces, are potentially serious and should have their main clinical manifestations among the domains of knowledge ofOral and Maxillofacial professionals, as they require accurate diagnosis, rapid management and adequate and early treatment, considering the speed at which they can evolve (AU).


Introducción: La salud bucal es un aspecto que los pacientes no deben subestimar, especialmente considerando que las infecciones odontógenas pueden derivar en afecciones graves, incluidas complicaciones cervicotorácicas, como la mediastinitis, y complicaciones cervicofaciales, como la angina de Ludwig.Para ello, es fundamental que los profesionales odontológicos sepan reconocer las principales señalesy síntomas de estas infecciones, su evolución, conocer las complicaciones asociadas y el manejo adecuado.Objetivo: Así,el objetivo de este trabajo es reportar y discutir un caso clínico de infección odontogénica grave que resultó en una complicación cervical, con trayecto hacia el mediastino, que requirió manejo multidisciplinario, y explorar los principales aspectos de esta condicióny las medidas necesarias, que requiere, como mínimo, intervención quirúrgica, terapia con antibióticos y mantenimiento de las vías respiratorias.Reporte de caso: El caso se trata de un paciente con una infección odontogénica, que comenzó como pericoronaritis del diente 38 semi-erupcionado, la cual progresó hacia la zona cervical, requiriendo drenaje inmediato en esta región ya que se encaminaba para una mediastinitis.Después del drenaje cervical y la terapia antibiótica y, una vez reducido el trismo, se extrajo el diente 38, evolucijjonando hacia la cura.Conclusiones: Las infecciones odontogénicas, especialmente aquellas que afectan los espacios fasciales y cervicales profundos, son potencialmente graves y deben tener sus principales manifestaciones clínicas entre los dominios del conocimiento de los profesionales Orales y Maxilofaciales, pues requieren de un diagnóstico certero, un manejo rápido y un tratamiento adecuado y temprano, considerando la velocidad a la que pueden evolucionar (AU).


Sujets)
Humains , Mâle , Adulte , Drainage/instrumentation , Contrôle de l'infection dentaire , Angine de Ludwig/anatomopathologie , Médiastinite , Ostéomyélite , Radiographie dentaire/instrumentation , Tomodensitométrie/instrumentation , Chirurgiens buccaux et maxillo-faciaux
4.
J. Health Biol. Sci. (Online) ; 12(1): 1-4, jan.-dez. 2024. ilus
Article Dans Portugais | LILACS | ID: biblio-1551180

Résumé

Introdução: A Síndrome de Aarskog-Scott (AAS) é uma rara displasia faciogenital ligada ao gene FGD1, afetando principalmente meninos. Relato de caso: Descreve-se um caso de um menino de 4 anos com AAS, destacando sua importância científica devido à raridade, escassez de descrições e morbidade associada. Ele apresentou fenda sacral, criptorquidia bilateral, atrasos no crescimento e histórico familiar semelhante. A AAS é caracterizada por estatura baixa, anomalias faciais e diversos comprometimentos. Este caso ressalta a importância do acompanhamento médico especializado. Considerações finais: A escassez de estudos comparáveis destaca a relevância dos relatos de casos para aprofundar a compreensão de condições clínicas singulares.


Introduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions.


Sujets)
Mâle , Enfant d'âge préscolaire , Chromosome X , Hommes
5.
Arch. argent. pediatr ; 122(1): e202303034, feb. 2024. ilus
Article Dans Anglais, Espagnol | LILACS, BINACIS | ID: biblio-1525833

Résumé

La presentación bilateral del absceso periamigdalino es poco frecuente. Su abordaje es controversial y se discute si realizar amigdalectomía en caliente versus diferida. Se presenta el caso de un paciente de sexo masculino, de 14 años, con odinofagia, trismo y fiebre. Presentaba hipertrofia amigdalina bilateral, pilares abombados y edema de paladar blando. Tomografía computada: hipertrofia amigdalina bilateral, con realce poscontraste, ambas con colección, edema con moderada estenosis faríngea. Se decidió internación para tratamiento endovenoso y amigdalectomía con drenaje bilateral. Resolución completa del cuadro con alta a las 48 horas. Ante la presencia de un absceso periamigdalino, debe considerarse la posibilidad de un absceso contralateral oculto. Debe ser diagnosticado y tratado adecuadamente para prevenir complicaciones. La amigdalectomía en caliente podría ser un tratamiento seguro y debería ser considerado en pacientes que serán sometidos a anestesia para drenaje. La decisión final debe ser determinada para cada caso en particular.


The bilateral presentation of peritonsillar abscess is uncommon. Its management is controversial and it has been argued whether a quinsy tonsillectomy or an interval tonsillectomy should be performed. Here we describe the case of a 14-year-old boy with sore throat, trismus, and fever. He had bilateral tonsillar hypertrophy, convex arches, and soft palate edema. Computed tomography: bilateral tonsillar hypertrophy, with post-contrast enhancement, both with collection, edema with moderate pharyngeal stenosis. The patient was hospitalized for intravenous therapy and tonsillectomy with bilateral drainage resulting in a complete resolution of his condition and discharge at 48 hours. In the presence of a peritonsillar abscess, an unsuspected contralateral abscess should be considered. It should be diagnosed and managed adequately to prevent complications. Quinsy tonsillectomy could be safe and should be considered in patients who will undergo anesthesia for abscess drainage. The final decision should be made for each patient on an individual basis.


Sujets)
Humains , Mâle , Adolescent , Pharyngite , Abcès périamygdalien/chirurgie , Abcès périamygdalien/diagnostic , Amygdalectomie/méthodes , Oedème , Hypertrophie/complications
6.
J. vasc. bras ; 23: e20230085, 2024. graf
Article Dans Portugais | LILACS-Express | LILACS | ID: biblio-1534796

Résumé

Resumo O maior ramo da divisão terminal da artéria braquial é a artéria ulnar, que se origina após a fossa cubital. Essa artéria usualmente tem trajeto profundo aos músculos do antebraço anterior e é responsável pela vascularização da musculatura superficial e profunda da região ulnar do antebraço e hipotênar da mão, sendo a principal responsável pela formação do arco palmar superficial após o retináculo dos flexores. Reportamos uma variação anatômica após diagnóstico com ultrassom vascular na qual a artéria ulnar situava-se em posição superficial no antebraço. A ocorrência da artéria ulnar superficial é rara, porém de grande importância para clínicos, cirurgiões e profissionais de enfermagem.


Abstract The largest branch of the terminal division of the brachial artery is the ulnar artery, which arises after the cubital fossa. This artery usually has a deep path in the muscles of the anterior forearm and is responsible for vascularization of the superficial and deep musculature on the ulnar side of the forearm and hypothenar area of the hand. We report an anatomical variant diagnosed by Doppler ultrasound in which the ulnar artery had a superficial position in the forearm. Occurrence of a superficial ulnar artery is rare, but it is an important fact for clinicians, surgeons, and nursing professionals.

7.
Braz. j. anesth ; 74(1): 744348, 2024. graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1557225

Résumé

Abstract Ultrasound evaluation of diaphragm function allows the detection of diaphragm dysfunction and the adaptation of ventilatory support in patients admitted to intensive care units. The studied patient had a C3 spinal cord injury. Ultrasound evaluation of diaphragm mobility showed that the patient suffered diaphragm dysfunction. A tracheotomy was indicated, and early ventilatory support was initiated. Ultrasound evaluation of diaphragm function in patients with cervical spinal cord injury is a useful and simple technique. It provides fast and reliable data for the diagnosis of respiratory insufficiency of neuromuscular origin.

8.
Braz. j. anesth ; 74(1): 744186, 2024. graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1557228

Résumé

Abstract Introduction: Primary pleomorphic pulmonary angiosarcomas are extremely rare tumors which could be easily mistaken for pulmonary emboli. Background and findings: We describe the successful perioperative management of a patient with a pulmonary arterial mass which turned out to be a primary pulmonary angiosarcoma. The severe pulmonary hypertension was a particular challenge compounded with the site and adhesions of the tumor, and pulmonary hemorrhage. The procedure was successfully performed with strict hemodynamic control ensuring stable systemic and pulmonary arterial pressures using perioperative transesophageal echocardiography to continuously monitor cardiac function, along with other standard cardiac surgical monitors including depth of anesthesia monitoring. Conclusion: Tight hemodynamic control, ensuring stable pulmonary arterial pressures using perioperative echocardiography, and thorough preparation with measures to reduce and prevent increase in pulmonary arterial pressure along with close communication within the multidisciplinary team are essential for successful management of patients with this pathology.

9.
Braz. j. anesth ; 74(1): 744192, 2024.
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1557230

Résumé

Abstract Platypnea-orthodeoxia syndrome (POS) is a rare condition of positional hypoxemia and dyspnea. The following is a case of hypoxemia for no obvious reason in the perioperative scenario. A 70-year-old male patient was submitted to a radical prostatectomy. On several occasions after anesthetic induction, peripheral oxygen saturation decreased without any understandable cause. In the postanesthesia care unit, severe hypoxemia occurred in the upright position, oddly correcting with recumbency. An echocardiography showed a right-to-left intracardiac shunt through a patent foramen ovale with no pulmonary hypertension, establishing POS. Achieving this diagnosis required a broad workup with a high degree of suspicion.

10.
CoDAS ; 36(3): e20230098, 2024. tab, graf
Article Dans Portugais | LILACS-Express | LILACS | ID: biblio-1557618

Résumé

RESUMO Objetivo Descrever e analisar queixas auditivas e acadêmicas de universitários e funcionários de uma universidade pública federal. Métodos O estudo foi realizado por amostra não-probabilística. A Escala de Autopercepção de Habilidades do Processamento Auditivo Central com adaptações foi utilizada para cumprir os objetivos da pesquisa. Esta possui 14 questões sobre queixas relacionadas às habilidades auditivas e 12 relacionadas ao ambiente acadêmico. Foi realizada a análise descritiva dos dados por meio da distribuição de frequência das variáveis categóricas e, para as análises de associação, foi utilizado o teste Qui-quadrado de Pearson. Resultados Participaram da pesquisa 646 indivíduos com faixa etária entre 17 e 67 anos. As queixas mais prevalentes foram: dificuldade acadêmica relacionada à memória, concentração e planejamento, ouvir e compreender a fala no ruído, e memorização de tarefas que foram apenas ouvidas. Houve associação com significância estatística bidirecional entre as queixas acadêmicas e auditivas. Conclusão Foi possível observar que há associação entre queixas auditivas e acadêmicas em adultos, marcada pela relação de aspectos cognitivos com aspectos auditivos. É relevante que esses fatores sejam considerados ao realizar avaliações do Processamento Auditivo Central, ao se intervir em pacientes com queixas auditivas, e na vida estudantil.


ABSTRACT Objective To describe and analyze auditory and academic complaints of students and employees of a federal public university. Methods The study was carried out using a non-probabilistic. The EAPAC Scale with adaptations was used to fulfill the research objectives. It has 14 questions about complaints related to listening skills and 12 questions related to the academic environment. Descriptive data analysis was performed through the frequency distribution of categorical variables and Pearson's chi-square test was used for association analyses. Results 646 individuals aged between 17 and 67 years old participated in the research. The most prevalent complaints were academic difficulty related to memory, concentration, and planning, hearing and understanding speech in noise, and memorization of tasks that were only heard. There was an association with bidirectional statistical significance between academic and auditory complaints. Conclusion It was possible to observe that there is an association between auditory and academic complaints in adults, marked by the relationship between cognitive and auditory aspects. It is relevant that these factors are considered when performing assessments of Central Auditory Processing when intervening in patients with auditory complaints, and in student life.

11.
Rev. Bras. Saúde Mater. Infant. (Online) ; 24: e20230128, 2024. tab, graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1558982

Résumé

Abstract Objectives: evaluate the association between the maternal near miss rate (TNMM) and sociodemographic and health care factors. Methods: this is an aggregated, cross- sectional epidemiological survey, with regression analysis and spatial analysis, with the units of analysis being the 399 municipalities that make up the four health macro- regions in the state of Paraná, Brazil. Data from the years 2018 to 2021 were obtained through the state maternal near miss report and monitoring system. Results: the state's total TNMM was 6.4 per 1,000 live births, with an increasing trend during the studied period (p<0.001). Sociodemographic and healthcare factors were not associated with TNMM, except for municipalities with a higher degree of urbanization (β adjusted=0.022; CI95%=0.002-0.041) and located in the northern health macro-region (β adjusted=12.352; CI95%= 10.779-15.099), demonstrated by clusters with high and positive associations (high-high). Conclusion: the lack of association with sociodemographic and care factors may be due to their low effect on near miss, or the underreporting of near miss cases in the state. The differences found can be justified by the organization of health services and the intense regionalization of municipalities belonging to the macronorth, which have a better near miss report culture.


Resumo Objetivos: avaliar a associação existente entre a taxa de near miss materno (TNMM) com fatores sociodemográficos e assistenciais de saúde. Métodos: trata-se de uma pesquisa epidemiológica agregada, transversal, com análises de regressão e análise espacial, sendo as unidades de análise os 399 municípios que compõem as quatro macrorregiões de saúde do estado do Paraná, Brasil. Os dados provenientes dos anos de 2018 a 2021 foram obtidos por meio do sistema estadual de notificação e monitoramento do near miss materno. Resultados: a TNMM total do estado foi de 6,4 por 1.000 nascidos-vivos, com tendência de aumento no período estudado (p<0,001). Fatores sociodemográficos e assistenciais não se associaram com a TNMM, exceto municípios com maior grau de urbanização (β ajustado=0,022; IC95%= 0,002-0,041) e localizados na macrorregião norte de saúde (β ajustado=12,352; IC95%= 10,779; 15,099), demonstrado por clusters com associações altas e positivas (high- high). Conclusão: a ausência de associação com os fatores sociodemográficos e assistenciais podem decorrer do baixo efeito dos mesmos sobre o near miss, ou à subnotificação de casos de near miss materno no estado. As diferenças encontradas podem ser justificadas pela organização dos serviços de saúde e intensa regionalização dos municípios pertencentes à macronorte, os quais apresentam melhor cultura de notificação de near miss.

12.
China Pharmacy ; (12): 339-342, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1006620

Résumé

OBJECTIVE To explore and analyze the adverse drug event (ADE) signals of darolutamide and provide a reference for its clinical safe use. METHODS ADEs related to darotamide were collected based on the US FDA adverse event reporting system (FAERS) database from the third quarter of 2019 to the third quarter of 2022. Data mining and analysis were conducted by the report odds ratio (ROR) and proportional reporting ratio (PRR) methods. RESULTS A total of 565 ADE reports related to darolutamide were extracted, 356 ADE reports about darolutamide as the primary suspected drug were included, 38 ADE signals with darolutamide as the primary suspected drug were excavated, involving 15 system organ class (SOC), mainly concentrated in patients over 65 years old. The SOC of darotamide ADE signal mainly focused on various examinations, systemic diseases and various reactions at the administration site, benign/malignant tumors or those with unknown nature (including cystic and polypoid), kidney and urinary system diseases. A total of 13 ADE signals not mentioned in the instructions included increased prostate-specific antigen, dysphagia, cognitive impairment, erectile dysfunction, rhabdomyolysis, gynecomastia and decreased platelet count, etc. CONCLUSIONS When using darolutamide, in addition to ADE in the drug instruction, we should pay close attention to potential ADE, such as increased prostate-specific antigen, rhabdomyolysis, gynecomastia and decreased platelet count, so as to avoid drug withdrawal or organ damage caused by ADE.

13.
Acta Medica Philippina ; : 74-78, 2024.
Article Dans Anglais | WPRIM | ID: wpr-1016686

Résumé

@#We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.


Sujets)
Autopsie , Malformations , Anomalies du tube neural , Anomalies du tube neural
14.
Acta Medica Philippina ; : 69-73, 2024.
Article Dans Anglais | WPRIM | ID: wpr-1016685

Résumé

@#Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.


Sujets)
Mucoviscidose , Dépistage néonatal , Philippines
15.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 333-336, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1016378

Résumé

@#Aortic intramural hematoma and pulmonary embolism are two rapidly progressive and life-threatening diseases. A 65-year-old male patient with descending aortic intramural hematoma and pulmonary embolism underwent pulmonary embolectomy and descending aortic stent-graft placement, with good postoperative results.

16.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 329-332, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1016377

Résumé

@#The sternum is the pivotal component of the thoracic cavity. It is connected with the clavicle and ribs on the upper part and both sides respectively, and plays an important role in protecting the stability of the chest wall. Sternal resection usually results in a large segmental chest wall defect that causes the chest wall to float and requires sternal reconstruction. This paper reports a 62 years male patient with thymic squamous cell carcinoma with sternal metastasis, who underwent thymotomy, sternal tumor resection and autologous lilum graft combined with sternal reconstruction by titanium plate after relevant examination was completed and surgical contraindications were eliminated. The patient was followed up for 6 months, the respiratory and motor functions were normal and the thoracic appearance was good.

17.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 325-328, 2024.
Article Dans Chinois | WPRIM | ID: wpr-1016375

Résumé

@#Currently, transcatheter intervention has emerged as a first-line treatment for coarctation of the aortic. Due to the radiation exposure associated with catheter interventional therapy, there are numerous restrictions, which harms both patients and medical personnel and is dependent on sizable radiation apparatus. Here, we report for the first time a case of echo-guiding percutaneous aortic stent implantation for a 27 years female patient of reproductive age. After discharge, the patient's aortic coarctation pressure decreased to 18 mm Hg, and the surgical results were satisfactory.

18.
Philippine Journal of Internal Medicine ; : 320-325, 2024.
Article Dans Anglais | WPRIM | ID: wpr-1013459

Résumé

Introduction@#Clear Cell Renal Cell Carcinoma, a renal cortical tumor characterized by malignant epithelial cells with clear cytoplasm and compact alveolar or acinar growth pattern interspersed with intricate arborizing vasculature.1 This is rare in people less than 45 years old. Though it has varied clinical manifestations, its classical triad: abdominal mass, hematuria, and groin pain only present in four to 17% of cases.2 We therefore present a case of renal cell carcinoma occurring in an unusual age group who presented with vague gastrointestinal symptoms and polycythemia which accounts only less than 5% of cases.3@*Case Presentation@#This is a case of a 28-year-old Filipino male who presented with epigastric pain with abdominal fullness and anorexia who later complained of frequent vomiting after solid and liquid intake. CBC revealed polycythemia. Gastroscopy with biopsy showed esophagitis Los Angeles classification Grade A and duodenal mass obstructing 95% of the lumen. Computed tomographic scan of whole abdomen revealed large renal mass, right of 15.9x9.35x11.34cm extending superiorly at the antropyloric region causing gastric luminal narrowing down to first and second segments of duodenum with a 4.2cm enlarged lymph node in aortocaval area. Magnetic resonance imaging revealed a huge complex right renal mass of 12x12x10cm in size extending beyond Gerota’s fascia with 8x5.2x6.2cm lymph node compressing the vena cava. Right radical nephrectomy was done for both supportive management to relieve the obstruction and for histologic diagnosis which revealed clear cell renal cell carcinoma. JAK2 gene mutation test was done to determine the cause of polycythemia and phlebotomy was performed to address the problem.@*Conclusion@#This case presents with vague gastrointestinal symptoms which is atypical of renal cell carcinoma, hence highlights the importance of properly investigating its cause. Furthermore, a multidisciplinary approach involving different subspecialties plays a significant role in the diagnosis and management in this patient.


Sujets)
Néphrocarcinome , Polyglobulie
19.
Philippine Journal of Internal Medicine ; : 318-323, 2024.
Article Dans Anglais | WPRIM | ID: wpr-1013458

Résumé

Introduction@#Opalski Syndrome is a rare type of stroke variant presenting with signs of lateral medullary syndrome plus ipsilateral hemiparesis. A confirmed myocardial infarction simultaneously occurring with this acute ischemic stroke syndrome makes this an even more challenging case of Cardiocerebral infarction.@*Case@#The patient is a 48-year-old female, a known diabetic and asthmatic, and was seen due to a 3-day history of sudden onset of non-rotatory dizziness associated with diplopia, non-projectile vomiting, numbness of the left side of the face and lingual dysarthria. She was initially admitted in a primary hospital wherein she developed chest pain, dyspnea and diaphoresis. She was transferred and was received with findings of miosis of the left eye, rotational nystagmus, left dysmetria, decreased pain and temperature sensation on the right extremities, left central facial palsy, tongue deviation to the left side, left hemiparesis and upward Babinski on the left. We localize this lesion on the left lateral medullary area with involvement of the caudal left corticospinal tract. Hence, a clinical impression of Opalski Syndrome was made. This was confirmed with cranial MRI findings of T2/FLAIR hyperintense focus involving the left lateral aspect of the medulla. The patient’s Troponin I was also elevated and she was managed as a case of acute coronary syndrome - NSTEMI. Hence, a diagnosis of Type III Cardiocerebral infarction was made. Medical intervention was started with dual antiplatelet therapy and anticoagulation with noted clinical improvement. @*Conclusion@#This case report highlights the diagnosis of Opalski Syndrome in a patient also presenting with Cardiocerebral infarction. There should be prompt recognition of the following disease entities to have an effective treatment, avoid cardiac and neurologic sequelae, and achieve an overall favorable prognosis.


Sujets)
Syndrome de Wallenberg
20.
Philippine Journal of Internal Medicine ; : 308-313, 2024.
Article Dans Anglais | WPRIM | ID: wpr-1013457

Résumé

Background@#Follicular dendritic cell sarcoma (FDCS) accounts for about 0.4% of soft tissue sarcomas. Approximately onethird of cases occur in extranodal sites and about 28% of extranodal FDCS may metastasize. Intra-abdominal occurrence is rare and there is limited published data to guide oncologists on how to best treat this malignancy.@*Case Presentation@#This is a case of a 33-year-old female who came in due to incidental finding of a left supraclavicular mass with 2-year history of early satiety. Neck node biopsy revealed a poorly differentiated malignant tumor with positive staining for CD21, CD23, vimentin and S100 consistent with FDCS. PET-CT revealed an intensely FDG-avid large mass in the left upper abdomen with signs of necrosis and mass effect. The patient was given three different chemotherapy regimens that included (1) gemcitabine/docetaxel, (2) single agent doxorubicin and (3) ifosfamide/etoposide, but she progressed on all these. Off-label use of bendamustine was then offered and after just the first cycle, the patient reportedly regained strength and was able to get up from wheelchair with noted interval decrease in size of the cervical mass. Unfortunately, the patient deteriorated and succumbed to infection and multiple pulmonary embolisms.@*Conclusion@#Intra-abdominal FDCS is a rare malignancy with heterogenous outcomes with no uniform treatment strategy at present. Molecular tumor board discussion and multi-disciplinary approach in extranodal FDCS is important in the diagnosis and management. Patients with multiple poor prognostic factors are at risk for tumor recurrence, metastasis, and death.


Sujets)
Sarcome folliculaire à cellules dendritiques , Tumeurs de l'abdomen , Traitement médicamenteux , Chlorhydrate de bendamustine , Pronostic
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